- Last 7 days
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mlpr.inf.ed.ac.uk mlpr.inf.ed.ac.uk
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Describe how youcould incorporate this information into your analysis.
Flag: suggested answer (don't read if don't want to see a (possibly incorrect) attempt:
Update - realise some bi-modal continuous distribution may be better (but potentially difficult to perform the update)
Attempt: we model the parameter pi in a Bayesian way: we put a distribution on pi (0.7 w.p 1/2, 0.2 w.p 1/2) then we weight the 1/2 with the likelihood of the observations, given that parameter (i.e. what is the likleihood when pi = 0.7, multiply that by 1/2 then divide by the normalizing constant to get our new probability for pi = 0.7 (do the same for pi = 0.2, the normalizing constant is the sum of the 'scores' for 0.7 and 0.2 i.e. 1/2 * likelihood so we can't 'divide by the normalising constant until we have the score for both 0.2 and 0.7)
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xplain your answers
Flag - suggested answer (don't read if don't want to see a (possibly incorrect) attempt:
Grateful for comments here as I am not very certain on the situations that the MLE approach is better vs situations where Bayesian approach is better
Suggested answer:
c(i) Is frequentist approach where we have one parameter estimate (the MLE) c(ii) bayesian approach - distribution over parameters and we update our prior belief based on observations If we have no prior belief - c(i) may be a better estimate (i.e. in (my version of) c(ii) we are constraining the parameters to be 0.7 or 0.2 and updating our relative convictions about these - which is a strong prior asssumption (we can never have 0.5 for instance) If we do have prior belief and also want to incorporate uncertainty estimations in our parameters, I think c(ii) is better If the MLE is 0.7 then we will have c(i) giving 0.7 and c(ii) giving 0.7 with a very high probability and 0/2 with a very low probability to the methods will perform similarly
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likelihood estimator of π?
Flag: suggested answer (don't read if don't want to see a )(possibly incorrect) attempt:
attempt: MLE = k/3
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for - paper - Assessing the size and uncertainty of Remaining Carbon Budget (RCB) - Lamboll et al, 2023 - from - youtube - Climate scientist Kevin Anderson warns: Only 4 years left to stay below 1.5°C without urgent action
from - youtube - Climate scientist Kevin Anderson warns: Only 4 years left to stay below 1.5°C without urgent action - https://hyp.is/u-rKxK-6Ee-TT7OpdMUOTw/www.youtube.com/watch?v=kFDRp-JMf9Q
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www.dreamsongs.com www.dreamsongs.com
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https://web.archive.org/web/20241201071240/https://www.dreamsongs.com/WorseIsBetter.html
Richard P Gabriel documents the history behind 'worse is better' a talk he held in Cambridge in #1989/ The role of LISP in the then AI wave stands out to me. And the emergence of C++ on Unix and OOP. I remember doing a study project (~91) w Andre en Martin in C++ v2 because we realised w OOP it would be easier to solve and the teacher thought it would be harder for us to use a diff language.
via via via Chris Aldrich in h. to Christian Tietze, https://forum.zettelkasten.de/discussion/comment/22075/#Comment_22075 to Christine Lemmer-Webber https://dustycloud.org/blog/how-decentralized-is-bluesky/ to here.
-[ ] find overv of AI history waves and what tech / languages drove them at the time
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- Nov 2024
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wedocs.unep.org wedocs.unep.org
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f only current NDCs are implemented and no further ambition is shown in the newpledges, the best we could expect to achieve is catastrophic global warming of up to2.6°C over the course of the century
for - stats - Current National Declared Commitments (NDCs) only take us to a disastrous 2.6 Deg. C over the course of the century.- UN Emissions Gap Report 2024 - Key Messages
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Since greenhouse gas emissions grew 1.3 per cent year-on-year to 57.1 gigatonsof carbon dioxide equivalent in 2023, the task has become harder; 7.5 per centmust be shaved off emissions every year until 2035 for 1.5°C
for - stats - GHG emissions grew 1.3 % year-on-year to 57.1 Gton CO2 eq in 2023 - UN Emissions Gap Report 2024 - Key Messages - stats - 7.5% decarbonization rate is now required every year to stay under 1.5 Deg C - UN Emissions Gap Report 2024 - Key Messages
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To get on a least-cost pathway for 1.5°C, emissions must fall 42 per cent by2030, compared to 2019 levels.
for - stats - 2030 emissions - 42% lower than 2019 to stay within 1.5 Deg C - UN 2024 Emission's Gap Report
Tags
- stats - 7.5% decarbonization rate is now required every year to stay under 1.5 Deg C - UN Emissions Gap Report 2024 - Key Messages
- stats - GHG emissions grew 1.3 % year-on-year to 57.1 Gton CO2 eq in 2023 - UN Emissions Gap Report 2024 - Key Messages
- stats - Current National Declared Commitments (NDCs) only take us to a disastrous 2.6 Deg. C over the course of the century.- UN Emissions Gap Report 2024 - Key Messages
- stats - 2030 emissions - 42% lower than 2019 to stay within 1.5 Deg C - UN 2024 Emission's Gap Report
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www.youtube.com www.youtube.com
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we hit it for one year and that doesn't tell us we've hit it or we haven't hit it so we we typically want to see a longer running average so we typically use an 11-year running average so a single year doesn't tell us we've hit it or we haven't hit it but it but it may well be that we're already in that long um like that that long run average we might be already one of those years that means we're not going to drop below 1.5
for - quote - climate crisis - In 2024, temperatures soared above 1.5 Deg C. Have we breached the threshold? Yes and No - Kevin Anderson
quote - climate crisis - In 2024, temperatures soared above 1.5 Deg C. Have we breached the threshold? Yes and No - Kevin Anderson - (see below) - We hit it for one year and that doesn't tell us we've hit it or we haven't hit it - We we typically want to see a longer running average so we typically use n 11-year running average - so a single year doesn't tell us we've hit it or we haven't hit it - But it may well be that we're already in that long run average - We might be already one of those years that means we're not going to drop below 1.5
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www.nature.com www.nature.com
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the targets of the Paris Agreement are now beyond the reach of incrementalism.
for - climate target of 1.5 Deg C - incrementalism won't work - rapid system change is necessary
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- Oct 2024
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drive.google.com drive.google.com
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Case: patient is named case #2, male
Disease Assertion: UCD/OTCD
Family Info:
Case Presenting HPOs: Hyperammonemia (HP:0001987), oriticaciduria (HP:0003218), low plasma citrulline (HP:0003572), neonatal onset(HP:0003623), Hyperglutaminemia (HP:0003217)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: GDNA was isolated from lymphocytes. To examine the small mutations in the coding region of the OTC gene, all 10 exons and their flanking intron regions were amplified using PCR, and the nucleotide sequences of the amplified products were determined. To determine the intron 5 sequence of case 2, PCR was performed using primers OTCex5F and OTCint5R, and primers OTCint5F and OTCex6R (Table 1, Fig. 3). The amplified products were subcloned into the pT7 vector and the inserted DNA was sequenced using an automated DNA sequencer. Allopurinol test
Supplemental Data: TABLE 1, Notes:
Variant: NM_000531.6: c.540+265G>A
ClinVarID: NA
CAID: CA658658977
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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www.nytimes.com www.nytimes.com
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Oliver Sacks Archive Heads to the New York Public Library by [[Jennifer Schuessler]]
The voluminous papers of the celebrated neurologist include letters, notebooks, drafts and other traces of a man who couldn’t stop writing.
You have to love the boos, notebooks, papers, fountain pen, typewriter, computer, printer, and even writing software all pictured in this... Add the glasses and it just reeks of someone who reads and writes.
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aacrjournals.org aacrjournals.org
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RRID: IMSR_ORNL: IE-BALB/c
DOI: 10.1158/2326-6066.CIR-20-1043
Resource: RRID:IMSR_ORNL:IE-BALB-C
Curator: @bandrow
SciCrunch record: RRID:IMSR_ORNL:IE-BALB-C
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- Sep 2024
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Gemignani, Michael C. Elementary Topology. 2nd ed. Addison-Wesley Series in Mathematics. Reading, MA: Addison-Wesley Publishing Company, 1971.
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drive.google.com drive.google.com
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Case: Patient #8, Female, Spanish
DiseaseAssertion: UCD/OTCD
FamilyInfo: Family history of disease
CasePresentingHPOs: Hyperammonemia (HP:0001987), Hyperglutaminemia (HP:0003217), Low plasma citrulline (HP:0003572), Oroticaciduria (HP:0003218), Childhood onset (HP:0011463)
CaseHPOFreeText:
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: Patients referred for mutational study because of enzymatically proven and/or laboratory proven OTC deficiency; genomic DNA extracted using commercial kit; amplified through PCR; SSCP analysis; sequenced using ABI Prism 3100 automated sequencer
SupplementalData: Table 1
Variant: NM_000531.6: c.391_397dup (p.Ser133Ilefs*3)
ClinVarID: 597358
CAID: CA913190354
gnomAD:
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www.thelancet.com www.thelancet.com
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Both biosphere boundaries
for - question - earth system boundaries - biodiversity - how do we reconcile these boundaries with climate departure?
question - earth system boundaries - biodiversity - how do we reconcile these boundaries with climate departure? - Does the term "functional integrity" imply autonomy from climate feedbacks? Obviously, climate feedback plays a huge role in determining biodiversity health - In 2013, Mora et al. found that climate departure, the year in which a climate variable moves out of the historical bounds will occur everywhere on the planet, regardless of an aggressive RCP pathway being taken. In this study, climate departure was found to take place (relative to 2013) - 37.5 years in the future under RCP45, or - 22.5 years in the future under RCP85 - It would seem that the biodiversity boundaries should take into consideration climate departure as species extinction and ecological system disruption is projected to occur, regardless of whether RCP45 or RCP85 is adopted. - Currently, we are still on a Business-As-Usual trajectory, but since 2013, scientific research has moved the danger threshold even lower so climate departure dates are likely even sooner than those calculated in the 2013 Mora paper
to - Mora, C., Frazier, A., Longman, R. et al. (2013). The projected timing of climate departure from recent variability. Nature 502, 183–187. https://doi.org/10.1038/nature12540 - https://hyp.is/3wZrokX9Ee-XrSvMGWEN2g/www.nature.com/articles/nature12540 - Researchgate copy - https://hyp.is/go?url=https%3A%2F%2Fwww.researchgate.net%2Fpublication%2F257598710_The_projected_timing_of_climate_departure_from_recent_variability&group=world
Tags
- question - earth system boundaries - biodiversity - how do we reconcile these boundaries with climate departure?
- to - Mora, C., Frazier, A., Longman, R. et al. (2013). The projected timing of climate departure from recent variability. Nature 502, 183–187. https://doi.org/10.1038/nature12540
Annotators
URL
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www.sciencedirect.com www.sciencedirect.com
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RRID:IMSR_ORNL
DOI: 10.1016/j.biopha.2024.117412
Resource: RRID:IMSR_ORNL:IE-BALB-C
Curator: @vtello
SciCrunch record: RRID:IMSR_ORNL:IE-BALB-C
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- Aug 2024
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www.youtube.com www.youtube.com
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34:00 ... 34:40 "why is it that we dont make vitamin C, but guinea pigs do?"<br /> some people say this is an acquired nutrient deficiency, curable by eating olive leafs.<br /> The Restoration of Vitamin C Synthesis in Humans<br /> by Thomas E. Levy, MD, JD and Ron Hunninghake, MD<br /> https://orthomolecular.org/resources/omns/v18n14.shtml
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drive.google.com drive.google.com
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Case: Patient Proband SS, Female, Caucasian
DiseaseAssertion: UCD/OTCD
FamilyInfo: De novo inheritance, no family history of disease
CasePresentingHPOs: Hyperammonemia (HP:0001987), oroticaciduria (HP:0003218), Childhood onset (HP:0011463)
CaseHPOFreeText:
CaseNOTHPOs: Positive allopurinol test
CaseNOTHPOFreeText:
CasePreviousTesting: Genomic DNA isolated from peripheral blood leukocytes or cultured skin fibroblasts. Amplification by PCR used. SSCP analysis performed. Sequencing of both free and immobilized single strands carried out by dideoxy chain termination method.
SupplementalData: Table 1: Mutations in the Ornithine Transcarbamylase Gene of 17 Females
Variant: NM_000531.6:c.77+1G>A
ClinVarID: 97313
CAID: CA224773
gnomAD:
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drive.google.com drive.google.com
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Case: Female Patient #1, Female, Japanese
DiseaseAssertion: UCD/OTCD
FamilyInfo: N/A
CasePresentingHPOs: Childhood onset (HP:0011463)
CaseHPOFreeText: Onset at 2 years
CaseNOTHPOs:
CaseNOTHPOFreeText: 16% OTC activity
CasePreviousTesting:
Variant: NM_000531.5:c.67C>T (p.Arg23*)
ClinVarID: 97292
CAID: CA224742
gnomAD:
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drive.google.com drive.google.com
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Case: Patient #38, Female, Chinese
DiseaseAssertion: UCD/OTCD
FamilyInfo: No family history of disease, mutation is inherited
CasePresentingHPOs: Hyperammonemia (HP:0001987), oroticaciduria (HP:0003218), vomiting (HP:0002013), coma (HP:0001259), lethargy (HP:0001254), seizures (HP:0001250), childhood onset (HP:0011463)
CaseHPOFreeText: Elevated plasma ammonia at 190 umol/L (Normal: 9-30 umol/L), Elevated urinary orotate at 202 mmol/mmol creatinine (Normal: 0-1.5 mmol/mmol creatinine)
CaseNOTHPOs:
CaseNOTHPOFreeText: Normal plasma glutamine at 13.5 umol/L (Normal: 6-30 umol/L), Normal plasma citrulline at 15.75 umol/L (Normal: 7-35 umol/L)
CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.
Variant: NM_000531.6:c.67C>T (p.Arg23*)
ClinVarID: 97292
CAID: CA224742
gnomAD:
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drive.google.com drive.google.com
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Case: Patient #4, Female, Caucasian
DiseaseAssertion: UCD/OTCD
FamilyInfo: N/A
CasePresentingHPOs: Hyperammonemia (HP:0001987),
CaseHPOFreeText: Elevated plasma ammonia concentration at 123 uM/L
CaseNOTHPOs:
CaseNOTHPOFreeText: Anxiety, plasma citrulline at 2 uM/L
CasePreviousTesting: N/A
Variant: NM_000531.5:c.67C>T (p.Arg23*)
ClinVarID: 97292
CAID: CA224742
gnomAD:
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drive.google.com drive.google.com
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Case: Patient #16, Male
DiseaseAssertion: UCD/OTCD
FamilyInfo: N/A
CasePresentingHPOs: Neonatal onset (HP:0003623), Hyperammonemia (HP:0001987)
CaseHPOFreeText:
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: N/A
Variant: NM_000531.6: c.77+2dupT
ClinVarID: 567293
CAID: CA891844248
gnomAD:
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Case: Patient #50, Male
DiseaseAssertion: UCD/OTCD
FamilyInfo: N/A
CasePresentingHPOs: Neonatal onset (HP:0003623), Hyperammonemia (HP:0001987)
CaseHPOFreeText:
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: N/A
Variant: NM_000531.6: c.174G>A (p.Trp58*)
ClinVarID: 97127
CAID: CA224490
gnomAD:
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Case: Patient #85, Male
DiseaseAssertion: UCD/OTCD
FamilyInfo: N/A
CasePresentingHPOs:
CaseHPOFreeText:
CaseNOTHPOs: Late Onset
CaseNOTHPOFreeText: Milder phenotype
CasePreviousTesting: N/A
Variant: NM_000531.6: c.298+1G>T
ClinVarID: 97160
CAID: CA224544
gnomAD:
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Case: Patient #32, Female
DiseaseAssertion: UCD/OTCD
FamilyInfo: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText:
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: N/A
Variant: NM_000531.6: c.140dup (p.(Asn47LysfsTer8))
ClinVarID:
CAID:
gnomAD:
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Case: Patient #7, Female
DiseaseAssertion: UCD/OTCD
FamilyInfo: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText:
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: N/A
Variant: NM_000531.6: c.29_32del (p.Asn10fs)
ClinVarID: 97157
CAID: CA224540
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: Patient #15, Female
DiseaseAssertion: UCD/OTCD
FamilyInfo: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText:
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting:
Variant: NM_000531.6: c.77+1G>A
ClinVarID: 97313
CAID: CA224773
gnomAD:
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- Jul 2024
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drive.google.com drive.google.com
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Case: patient #10, Male, Argentine
Disease Assertion: UCD/OTCD
Family Info: family history of the disease,
Case Presenting HPOs: Neonatal onset(HP:0003623), Hyperammonemia HP:0001987
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: The OTC gene mutations were identified using PCR amplification, classical sequencing (Sanger), and multiplex ligation-dependent probe amplification.10,11 Mutations were identified by comparison with the GenBank reference sequence for human OTC (GenBank entries: NG_008471.1, NP 000522.3, NM 000531.5, NC 000023.11) Missense mutations were analyzed using different computational algorithms: CLUSTALW2 (http://www.clustal.org/clustal2/), SIFT (http://blocks.fhcrc.org/sift/SIFT.html),Polyphen2(http://genetics.bwh.harvard.edu/pph/),PoPMuSiC(http://babylone.ulb.ac.be/popmusic/), and SIFT Indel(http://siftdna.org/www/SIFT_indels2.html).
Supplemental Data: Table 1 Notes: died at 6 months and had 2 brothers that died a neonatal stage
Variant: NM_000531.6: c.540+1G>A
ClinVarID: 1458773
CAID: CA412724226
gnomAD: X-38381340-A-T
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: patient#5 , female, Italian
Disease Assertion: UCD/OTCD
Family Info:
Case Presenting HPOs: irritability(HP:0000737), lethargy(HP:0001254), vomiting(HP:0002013), Oriticaciduria (HP:0003218), low plasma citrulline (HP:0003572), Elevated circulating alanine aminotransferase concentration(HP:0031964), Elevated circulating aspartate aminotransferase concentration (HP:0031956), childhood onset (HP:0011463)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: Total RNA was isolated from peripheral blood lymphocytes or lymphoblastoid cell lines and from frozen liver biopsy as described in Chomczynski and Sacchi (1987). For each patient two cDNA syntheses were performed: 10mg of total RNA with 800-1000 ng of oligo dT or 500ng of specific primer NR, mapping in the 3’UTR of OTC cDNA Identification of genetic lesions by amplification of the OTC mRNA, expressed in the liver tissue and intestine, from a non-specific tissue like PBL or lymphoblastoid cell lines. Some mutations, particularly those affecting splicing sites, may have a different expression in liver and PBL . In females, including manifesting carriers, this method allows the identification of deletions and gene rearrangements with certainty, but mutations, decreasing mRNA stability, are unlikely to be detected because the normal allele will constitute the majority of the RNA available for RT-PCR and will be preferentially amplified.
Supplemental Data: Case report section Notes: Hepatomegaly. This mutation, previously reported (Reish et al., 1993), has been correlated with a lethal disease form in a male patient, therefore the mild phenotype in our patient could be explained by a not completely unfavorable X-lyonization
Variant: NM_000531.6: c.928G>T(p.Glu310*)
ClinVarID: 97361
CAID: CA224838
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: 24 yo Laotse patient , female
Disease Assertion: UCD/OTCD
Family Info:
Case Presenting HPOs:Hyperammonemia(HP:0001987), Adult onset (HP:0003581), Elevated circulating alanine aminotransferase concentration(HP:0031964), Elevated circulating aspartate aminotransferase concentration(HP:0031956), oriticaciduria(HP:0003218), Aminoaciduria(HP:0003355, Prolonged prothrombin time(HP:0008151), Cerebral edema(HP:0002181),
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: " Genomic DNA from the patient was isolated from cultivated fibroblasts. Nine pairs of primers were designed from the published sequence of the OTC gene6,7 to allow amplification of all 10 exons including adjacent intron sequences. Single-strand conformational polymorphism analysis of the polymerase chain reaction–amplified individual exon 8 yielded an unusual migration pattern of exon 9
Supplemental Data: Case report section Notes: Patient had a pregnancy 2 years prior and lost the baby. In this case report, She was a 14weeks pregnant(2nd pregnancy) 24yo . She died during this of severe hyperammonemia 5 days after being administered amino acids through parenteral nutrition. She developed signs of encephalopathy stage 4 with maximal dilated unresponsive pupils, brisk oculocephalic reflex, and severe hyperventilation, requiring mechanical ventilation. MRI revealed revealed diffuse cortical edema with loss of white to gray matter distinction. Increased excretion of Gly, Gln, Ser, Thr, and Lys was found in her urine. Treatment with benzoate was started but didn't save the patient.
Variant: NM_000531.6: c.892_893del(p.Trp298Aspfs*15)
ClinVarID: 97348
CAID: CA224820
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: patient #11, female, 35yo, slovenian
Disease Assertion: UCD/OTCD
Family Info: family history of the disease,
Case Presenting HPOs: Adult onset(HP:0003581), hyperammonemia(HP:0001987), protein avoidance (HP:0002038)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: Sequencing was performed at a 3rd-party sequencing center using a standardized seq of procedures following PCR-free WGS library preparation protocol Illumina TrueSeq DNA Nano and sequenced on Illumina NovaSeq 6000 platform with a mean autosomal depth greater than 30×. Variants were interpreted by a medical doctor specialized in the NGS sequencing data analysis and those classified as likely pathogenic or pathogenic according to the ACMG/AMP standards and guidelines were considered for reporting, while variants of uncertain clinical significance, were not considered. Likely pathogenic and pathogenic variants were further evaluated by the referring clinical geneticist and were considered and reported if they were classified as both a likely diagnostic finding and if they were compatible with the clinical presentation of referral.
Supplemental Data: Table 4 and section 3.1(Case description) Notes:
Variant: NM_000531.6: c.540+265G>A
ClinVarID: 449382
CAID: CA658658977
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: patient #113, Male
Disease Assertion: UCD/OTCD
Family Info:
Case Presenting HPOs: Neonatal onset(HP:0003623), Hyperammonemia HP:0001987
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: GDNA from blood, cultured skin fibroblasts, liver from patients suspected for otc deficiency was used to amplify all 10 exons and exon/intron boundaries using primers listed in Table 1. The amplified DNA fragments were then screened by single-strand conformational polymorphism (SSCP) and the abnormally migrating DNA fragments were sequenced directly from PCR products (w/o subcloning) to identify the mutation. The amino acid residue substitution created by the mutation is examined using an alignment of 26 OTCase sequences from 23 species.
Supplemental Data: Table 4 Notes:
Variant: NM_000531.6: c.867+1G>A
ClinVarID: 97342
CAID: CA224813
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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pages.cs.wisc.edu pages.cs.wisc.edu
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volatile int counter = 0;
作用:确保了对变量的直接内存访问 在C语言中,
volatile
关键字的主要作用是: 1. 防止编译器对变量进行优化 编译器通常会对程序进行优化,以提高运行效率。但是对于一些与硬件密切相关的变量,编译器优化可能会导致一些意料之外的结果。volatile
关键字可以告诉编译器,该变量可能会被意外因素影响,因此每次使用该变量时都要重新从内存中读取。这就防止了编译器对该变量进行优化和缓存。 2. 用于多线程编程 在多线程编程中,如果多个线程访问同一个变量,而该变量没有被适当地保护,就可能导致竞态条件。将变量声明为volatile
可以确保每个线程都直接从内存中读取变量的值,而不是使用寄存器中的值。这样可以避免一些并发访问的问题。 3. 访问硬件寄存器volatile
关键字常用于访问内存映射的硬件寄存器,如设备的控制寄存器。这些寄存器的值可能会被硬件异步修改,所以编译器不应该对访问这些寄存器的代码进行优化。 需要注意的是,volatile
关键字本身并不能解决所有的并发问题,它只是确保了对变量的直接内存访问。在多线程编程中,仍然需要采用适当的同步机制,如互斥锁、信号量等,来保护共享数据。 总之,volatile
关键字的作用是防止编译器对变量进行优化,确保直接从内存中读取变量的值,这在硬件编程和多线程编程中非常有用。
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www.liberation.fr www.liberation.fr
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Eine extreme hitzewelle in marokko hat in einer stadt im landesinneren an einemTag meh als 20 Todesopfer gefordert. Vorausgegangen. waren mehrere andere Hitzewellen. Sie sind laut einer Studie mit höchster Wahrscheinlichkeit der Erderhitzung durch Treibhausgase zuzuschreiben. https://www.liberation.fr/environnement/climat/maroc-une-vague-de-chaleur-sans-precedent-entraine-la-mort-de-plus-de-20-personnes-en-24-heures-20240725_YHPM3UEXSFDYLB7PYXNA5LO5F4/
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drive.google.com drive.google.com
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Case: patient #20, Male
Disease Assertion: UCD/OTCD
Family Info: NA
Case Presenting HPOs: Hyperammonemia (HP:0001987), oriticaciduria (HP:0003218), low plasma citrulline (HP:0003572), neonatal onset (HP:0003623)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: Genomic DNA was isolated using PUREGENE blood kit from peripheral leukocytes of patients and related family members with informed consents. Amplification by PCR of all 10 exons of the OTC gene was performed using nine pairs of primers designed to span all exons and their adjacent intronic regions. PCR products were subsequently sequenced using ABI3100 Genetic analyzer with BigDye termination ver.3.0.To analyze the activity of OTC protein expressed in the COS-7, high-pressure liquid chromatographic (HPLC) analysis was performed with a Water system, consisting of a model 510 pump and a UV-visible 420 detector.
Supplemental Data: Table 1 Notes:
Variant: NM_000531.6: c.796_805del(p.Ile265AspfsX20)
ClinVarID: NA
CAID: CA2695233326
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: patient #1, female Disease Assertion: UCD/OTCD
Family Info:
Case Presenting HPOs: Hyperammonemia (HP:0001987), Juvenile onset (HP:0003621)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: "DNA samples were obtained from either peripheral white blood cells or liver biopsies of probands. Patient 1 total liver RNAs were extracted by the acid-phenol-guanidium method and reverse-transcribed in cDNA by hexanucleotide priming using Superscript 11' (Life Technologies, Cergy-Pantoia, France). First strand cDNA was further PCR-amplified using forward and reverse primers specificons 7 and 9 of the OTC gene, respectively. Sequence comparisons were conducted using the FASTA option of the BISANCE package. Secondary protein conformational changes induced by sequence mutations were predicted using the algorithms of the BISANCE package. Nucleotidic changes potentially altering splice sites were studied using the Senapathy's algorithm from the BISANCE package."
Supplemental Data: TABLE 1, Notes:
Variant: NM_000531.6: c.731_739del(p.Leu244Profs)
ClinVarID: 97307
CAID: CA224765
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: patient #273, Male
Disease Assertion: UCD/OTCD
Family Info: NA
Case Presenting HPOs: Neonatal onset (HP:0003623)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: NA
Supplemental Data: Supplemental table file Notes:
Variant: NM_000531.6: c.818del (p.Glu273Glyfs*16)
ClinVarID: 97338
CAID: CA224807
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: patient MW
Disease Assertion: UCD/OTCD
Family Info: NA
Case Presenting HPOs: NA
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: NA
Supplemental Data: NA Notes: mutation might cause exon 8 kipping durring splicing.
Variant: NM_000531.6: c.718-2A>G
ClinVarID: 97303
CAID: CA224761
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: patient #5, male, German Disease Assertion: UCD/OTCD
Family Info: Family history of the disease, Variant found in mother of the patient
Case Presenting HPOs: infantile onset (HP:0003593), oritic aciduria(HP:0003218), hyperammonemia(HP:0001987), hyperglutaminemia(HP:0003217), low plasma citrulline (HP:0003572)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: Liver tissues were used to extract RNA that was later used to synthesize cDNA. The products were compared to healthy controls in order to detect variants. gDNA, in order to determine the size of deletions in patient 3 and 4 , a set of intronic primers presumably flanking the deletions was used and specific primers allowed sequencing of exactly those critical regions(sequencing on paper). To estimate the relevance of the identified intronic variants in terms of their capability to induce splicing, we used a score developed by Shapiro and Senapathy. This splice score offers information about the usage of a certain splice site
Supplemental Data: TABLE 1, Notes: died at 11 months, was given medication and low protein diet and was asymptomatic during that time. Died from sever cerebral edema.
Variant: NM_000531.6: c.1005+1091C>G
ClinVarID: N/A
CAID: CA2695233334
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #1, male, turkish
Disease Assertion: UCD/OTCD
Family Info: Family history of the disease, Variant found in mother of the patient
Case Presenting HPOs: infantile onset (HP:0003593), coma(HP:0001259), episodic hyperammonemia(HP:0001951), oriticaciduria(HP:0003218)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: Liver tissues were used to extract RNA that was later used to synthesize cDNA. The products were compared to healthy controls in order to detect variants. gDNA, in order to determine the size of deletions in patient 3 and 4 , a set of intronic primers presumably flanking the deletions was used and specific primers allowed sequencing of exactly those critical regions(sequencing on paper). To estimate the relevance of the identified intronic variants in terms of their capability to induce splicing, we used a score developed by Shapiro and Senapathy. This splice score offers information about the usage of a certain splice site
Supplemental Data: TABLE 1, Notes: very mild movement disorder, the diagnosis was prenatal so measures were taken from birth,. 2 biopsies were performed and the revealed respectively a 30% and 50 % decrease on OTC activity.
Variant: NM_000531.6: c.867+1126A>G
ClinVarID: 571311
CAID: CA891843643
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #2, male, Saudi Arabian
Disease Assertion: UCD/OTCD
Family Info: Family history of the disease, Variant found in mother of the patient, Brother died of hyperammonemic crisis
Case Presenting HPOs: intellectual disability (HP:0001249), Neonatal onset (HP:0003623), seizure(HP:0001250), episodic hyperammonemia(HP:0001951), intellectual disability (HP:0001249)
Case HPO FreeText: hyperammonemic encephalopathy
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: Liver tissues were used to extract RNA that was later used to synthesize cDNA. The products were compared to healthy controls in order to detect variants. gDNA, in order to determine the size of deletions in patient 3 and 4 , a set of intronic primers presumably flanking the deletions was used and specific primers allowed sequencing of exactly those critical regions(sequencing on paper). To estimate the relevance of the identified intronic variants in terms of their capability to induce splicing, we used a score developed by Shapiro and Senapathy. This splice score offers information about the usage of a certain splice site
Supplemental Data: TABLE 1, Patient was severely mentally retarded after the age of 2. Low OTC activity
Variant: NM_000531.6: c.540+265G>A(p.Gln180_Glu181insX4)
ClinVarID: 449382
CAID: CA658658977
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: no patient #ID, female Disease Assertion: UCD/OTCD
Family Info: NA
Case Presenting HPOs: NA
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: NA
Supplemental Data: TABLE 1, Notes: NA
Variant: NM_000531.6: c.665del(p.(Gly222ValfsTer8)
ClinVarID: 97289
CAID: CA224738
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Not done!!!
Case: no patient #ID, female Disease Assertion: UCD/OTCD
Family Info: NA
Case Presenting HPOs: NA
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: NA
Supplemental Data: TABLE 1, Notes: NA
Variant: NM_000531.6: c.664-1delG
ClinVarID: 97289
CAID: CA224738
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: no patient #ID, female Disease Assertion: UCD/OTCD
Family Info: NA
Case Presenting HPOs: NA
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: NA
Supplemental Data: TABLE 1, Notes: NA
Variant: NM_000531.6: c.663+2T>C
ClinVarID: 97285
CAID: CA224732
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: no patient #ID, male Disease Assertion: UCD/OTCD
Family Info: NA
Case Presenting HPOs: NA
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: NA
Supplemental Data: TABLE 1, Notes: NA
Variant: NM_000531.6: c.663+1G>A
ClinVarID: 97283
CAID: CA224730
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: no patient #ID, female Disease Assertion: UCD/OTCD
Family Info: NA
Case Presenting HPOs: NA
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: NA
Supplemental Data: TABLE 1, Notes: NA
Variant: NM_000531.6: c.77+1G>T
ClinVarID: 97314
CAID: CA224774
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: no patient ID#, 36yo donor , female
Disease Assertion: UCD/OTCD
Family Info:
Case Presenting HPOs: adult onset (HP:0003581), oriticaciduria (HP:0003218), irritability (HP:0000737), protein avoidance
Case HPO FreeText: hyperammonemic encephalopathy
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: N/A
Supplemental Data: TABLE 1, She is vegeterian. The symptoms of OTCD started showing after the patient donated 60% of liver to her sibling. the information reported in this is the biochemical results during hyperammonemic episode following the transplantation. the patient became irritable and confused, and her level of consciousness deteriorated markedly. After hemodialysis the patient recovered.
Variant: NM_000531.6: c.429T>A(p.Tyr143*)
ClinVarID: 1072591
CAID: CA412723166
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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there was a paper that came out a few years ago showing that five degrees at the pace we're doing would be 00:40:13 is like easily sufficient to reproduce some of these catastrophes in Earth history
for - climate crisis - 5 deg C could reproduce similar levels of catastrophes as those in early earth history
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www.mdpi.com www.mdpi.com
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If warming reaches or exceeds 2 °C this century, mainly richer humans will be responsible for killing roughly 1 billion mainly poorer humans through anthropogenic global warming, which is comparable with involuntary or negligent manslaughter.
for - quote - exceeding 2 Deg C may result in a billion deaths - Joshua Pearce
quote - exceeding 2 Deg C may result in a billion deaths - Joshua Pearce - (see below) - If warming reaches or exceeds 2 °C this century, - mainly richer humans will be responsible for killing roughly 1 billion mainly poorer humans - through anthropogenic global warming, - which is comparable with involuntary or negligent manslaughter.
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drive.google.com drive.google.com
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Case: no patient ID#, male
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: Neonatal onset (HP:0003623)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: GDNA was extracted from blood or liver tissues using salt and ethanol precipitation. multiplex amplification for exons 1, 5 and 9 to screen male patients with large deletions. Band intensities were measured using a molecular dynamics phosphoimager.
Supplemental Data: TABLE 2
Variant: NM_000531.6: c.541-2A>G
ClinVarID: 97243
CAID: CA224675
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: no patient ID#, male
Disease Assertion: UCD/OTCD
Family Info:
Case Presenting HPOs: Neonatal onset (HP:0003623)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: GDNA was extracted from blood or liver tissues using salt and ethanol precipitation. multiplex amplification for exons 1, 5 and 9 to screen male patients with large deletions. Band intensities were measured using a molecular dynamics phosphoimager.
Supplemental Data: TABLE 2,
Variant: NM_000531.6: c.437C>G(p.Ser146*)
ClinVarID: 97201
CAID: CA224606
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: patient #573, male
Disease Assertion: UCD/OTCD
Family Info:
Case Presenting HPOs:hyperammonemia (HP:0001987), Neonatal onset (HP:0003623)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: GDNA extracted from blood leukocytes using the proteinase K/phenol extraction procedure on a model 340 A nucleic acid extractor (Applied Biosystems). 5mg samples of DNA were digested with BamHI, MspI, or TaqI restriction endonuclease, electrophoresed through 1 % agarose gels, and transferred to a nylon membrane by standard procedures. The blots were then hybridized with a radiolabeled full-length cDNA probe for human OTC.
Supplemental Data: TABLE 3,
Variant: NM_000531.6: c.67C>T(p.Arg23*)
ClinVarID:97292
CAID: CA224742
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient SM, male
Disease Assertion: UCD/OTCD
Family Info:
Case Presenting HPOs: Hyperammonemia (HP:0001987), Neonatal onset (HP:0003623)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: GDNA extracted from blood leukocytes using the proteinase K/phenol extraction procedure on a model 340 A nucleic acid extractor (Applied Biosystems). 5mg samples of DNA were digested with BamHI, MspI, or TaqI restriction endonuclease, electrophoresed through 1 % agarose gels, and transferred to a nylon membrane by standard procedures. The blots were then hybridized with a radiolabeled full-length cDNA probe for human OTC.
Supplemental Data: TABLE 3,
Variant: NM_000531.6: c.274C>T(p.Arg92*)
ClinVarID:97151
CAID: CA224530
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: patient from family 1, male
Disease Assertion: UCD/OTCD
Family Info: Family history of the disease
Case Presenting HPOs: coma(HP:0001259), lethargy(HP:0001254), hyperammonemia (HP:0001987), Neonatal Onset HP:0003623
Case HPO FreeText: Poor feeding, poor spirit
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: Genomic DNA was extracted using the QIAamp DNA Blood Midi Kit (Qiagen, Duesseldorf, Germany). Quality control assessment of DNA samples was performed using the NanoDrop 2000 ultra-microvolume nucleic acid and protein spectrophotometer (Thermo, Waltham, MA, USA). The purity of DNA was required to be between 1.8 and 2.0.
Supplemental Data: TABLE 1, admitted to neonatal department because of poor feeding, poor spirit, coma, and lethargy. The maternal grandmother of the proband in this family had given birth to 3 boys and 2 girls. Two boys died within 1 month after birth
Variant: NM_000531.6: c.867+1G>C
ClinVarID:N/A
CAID: CA412723994
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: patient #5, female
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: Neonatal onset (HP:0003623)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: gDNA testing involves PCR amplification of all 10 exons and exon/intron boundaries followed by screening for mutations or sequencing of all fragments, For these patients, confirmation of the diagnosis requires enzymatic assays. No specifications about the test
Supplemental Data: TABLE 1
Variant: NM_000531.6: c.53del (p.His18Profs*20)
ClinVarID: 97239
CAID: CA224671
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #85, female
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs:
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: gDNA testing involves PCR amplification of all 10 exons and exon/intron boundaries followed by screening for mutations or sequencing of all fragments, For these patients, confirmation of the diagnosis requires enzymatic assays. No specifications about the test
Supplemental Data: TABLE 1
Variant: NM_000531.6: c.449_451del(p.Leu151Trpfs*36)
ClinVarID: N/A
CAID: CA2759533410
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #154, male
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: Neonatal onset (HP:0003623)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: gDNA testing involves PCR amplification of all 10 exons and exon/intron boundaries followed by screening for mutations or sequencing of all fragments, For these patients, confirmation of the diagnosis requires enzymatic assays. No specifications about the test
Supplemental Data: TABLE 1
Variant: NM_000531.6: c.664-1G>A
ClinVarID: 97288
CAID: CA224811
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #188, male
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: Neonatal onset (HP:0003623)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: gDNA testing involves PCR amplification of all 10 exons and exon/intron boundaries followed by screening for mutations or sequencing of all fragments, For these patients, confirmation of the diagnosis requires enzymatic assays. No specifications about the test
Supplemental Data: TABLE 1
Variant: NM_000531.6: c.835C>T(p.Gln279*)
ClinVarID: 97341
CAID: CA224811
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #213, male
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: Neonatal onset (HP:0003623)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: gDNA testing involves PCR amplification of all 10 exons and exon/intron boundaries followed by screening for mutations or sequencing of all fragments, For these patients, confirmation of the diagnosis requires enzymatic assays. No specifications about the test
Supplemental Data: TABLE 1
Variant: NM_000531.6: c.962C>A(p.Ser321*)
ClinVarID: 97373
CAID: CA224859
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #220, male
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: Neonatal onset (HP:0003623)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: gDNA testing involves PCR amplification of all 10 exons and exon/intron boundaries followed by screening for mutations or sequencing of all fragments, For these patients, confirmation of the diagnosis requires enzymatic assays. No specifications about the test
Supplemental Data: Table 1
Variant: NM_000531.6: c.1005+2T>C
ClinVarID: 97090
CAID: CA224431
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
Tags
- c.835C>T
- CAID: CA2759533410
- ClinVar: 97239
- PMID:11793468
- CAID: CA224859
- ClinVar: 97373
- CAID: CA224671
- CAID: CA224737
- CAID: CA224811
- ClinVar: 97288
- c.1005+2T>C
- Mutation: Frameshift
- c.53delA
- ClinVar: 97341
- ClinVar: 97090
- CAID: CA224431
- Mutation: Splicing LOF
- Mutation: Nonsense
- Gene: OTC
- c.449_451delC
- c.664-1G>A
- c.962C>A
Annotators
URL
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drive.google.com drive.google.com
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Case: patient #335, female
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs:
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: No specific functional tests indicated
Supplemental Data: In supplemental data files
Variant: NM_000531.6: c.861_862insAC (p.Met288Thrfs*2)
ClinVarID: N/A
CAID: CA2759522140
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #303, female
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs:
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: No specific functional tests indicated
Supplemental Data: In supplemental data files
Variant: NM_000531.6: c.766G>T(p.256Gly*)
ClinVarID: 870326
CAID: CA412722685
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #212, female
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs:
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: No specific functional tests indicated
Supplemental Data: In supplemental data files
Variant: NM_000531.6:c.561delA(p.Gly188Valfs*18)
ClinVarID: N/A
CAID: CA2499307429
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #198, male
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: Neonatal onset (HP:0003623)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: No specific functional tests indicated
Supplemental Data: In supplemental data files
Variant: NM_000531.6:c.538C>T(p.Gln180*)
ClinVarID: N/A
CAID: CA412724187
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: patient #16, female, Japanese
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs:
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: The severity of missense mutations was assessed using conservation and solvent accessible area of the replaced amino acid, calculated destabilization of mutant proteins and their SIFT and PolyPhen2 scores
Supplemental Data: Kido_et_al_2022_fgene_Data Sheet 2
Variant: NM_000531.6:c.77+1G>T
ClinVarID: 97314
CAID: CA224774
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: patient #55, male, Japanese
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: Seizure (HP:0001250), Hyperammonemia (HP:0001987), Intellectual disability (HP:0001249)
Case HPO FreeText: abnormal brain MRI and brain waves, acute liver failure, corneal opacity
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: The mRNA ref seq were, wherein the “A” nucleotide of the start codon ATG constituted as +1 numbering of the cDNA sequence. Met encoded by the start codon ATG also represented +1 for the amino acid numbering as set forth by the preprotein seq. PolyPhen-2, SIFT, and I-Mutant 3 tools were used for predicting the potential impact of an amino acid alteration in missense mutations on the function of each enzyme.
Supplemental Data: Table 1
Variant: NM_000531.6:c.c.929_931del(p.Glu310Valfs*45)
ClinVarID: 858012
CAID: CA916083888
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #56, female, Japanese
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: ,Hyperammonemia (HP:0001987)
Case HPO FreeText: N/A
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: The mRNA ref seq were, wherein the “A” nucleotide of the start codon ATG constituted as +1 numbering of the cDNA sequence. Met encoded by the start codon ATG also represented +1 for the amino acid numbering as set forth by the preprotein seq. PolyPhen-2, SIFT, and I-Mutant 3 tools were used for predicting the potential impact of an amino acid alteration in missense mutations on the function of each enzyme.
Supplemental Data: Table 1, patient had a liver transplant at 12yo.
Variant: NM_000531.6:c.940G>T(p.Glu314*)
ClinVarID: N/A
CAID: CA412726302
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #52, female, Japanese
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: ,Hyperammonemia (HP:0001987)
Case HPO FreeText: N/A
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: The mRNA ref seq were, wherein the “A” nucleotide of the start codon ATG constituted as +1 numbering of the cDNA sequence. Met encoded by the start codon ATG also represented +1 for the amino acid numbering as set forth by the preprotein seq. PolyPhen-2, SIFT, and I-Mutant 3 tools were used for predicting the potential impact of an amino acid alteration in missense mutations on the function of each enzyme.
Supplemental Data: Table 1
Variant: NM_000531.6:c.894G>A(p.Trp298*)
ClinVarID: N/A
CAID: CA412725724
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #51, male, Japanese
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: neonatal(HP:0003623), intellectual disability (HP:0001249), seizure (HP:0001250),Hyperammonemia (HP:0001987)
Case HPO FreeText: Hypertonus, Autism, Acute liver failure. very high blood ammonia
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: The mRNA ref seq were, wherein the “A” nucleotide of the start codon ATG constituted as +1 numbering of the cDNA sequence. Met encoded by the start codon ATG also represented +1 for the amino acid numbering as set forth by the preprotein seq. PolyPhen-2, SIFT, and I-Mutant 3 tools were used for predicting the potential impact of an amino acid alteration in missense mutations on the function of each enzyme.
Supplemental Data: Table 1
Variant: NM_000531.6:c.867+1G>C
ClinVarID: N/A
CAID: CA412723994
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #50, male, Japanese
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: Seizure HP:0001250, hyperammonemia HP: 0001987
Case HPO FreeText: Hepatomegaly, Abnormal brain MRI and brain waves, Acute liver failure, Corneal opacity
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: The mRNA ref seq were, wherein the “A” nucleotide of the start codon ATG constituted as +1 numbering of the cDNA sequence. Met encoded by the start codon ATG also represented +1 for the amino acid numbering as set forth by the preprotein seq. PolyPhen-2, SIFT, and I-Mutant 3 tools were used for predicting the potential impact of an amino acid alteration in missense mutations on the function of each enzyme.
Supplemental Data: Table 1
Variant: NM_000531.6:c.834_840del(p.Gln279Serfs*8)
ClinVarID: N/A
CAID: CA2695233329
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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-
drive.google.com drive.google.com
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Case: no patient ID, Female
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: HP:0001951, HP: 0001987
Case HPO FreeText: episodic hyperammonemia, hyperammonemia
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: "Genomic DNAs were extracted from leukocytes, The ten exons and intron-exon boundaries of the OTC gene were PCR amplified and analyzed by Sanger sequencing on an ABI3100 sequencer. Intragenic deletions/duplications were searched for by Multiple Ligation Probe Dependent Amplification assay. Potential impact of non truncating variants on mRNA and protein was predicted using Splice Site Prediction. OTC variants were split into two groups, “severe” and “mild,” based on their impact on the clinical phenotype and on the OTC protein.
Supplemental Data: Table 3, All nuclear family members were tested but no information about their genotype. the condition to be part of this study was the presence of at least one heterozygous female in the pedigree of the patient.
Variant: NM_000531.6:c.1052delA(p.Lys351Serfs*44)
ClinVarID: 915468
CAID: CA1139667400
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: no patient ID, Female
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: HP:0003623, HP: 0001987
Case HPO FreeText: Neonatal onset, hyperammonemia
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: "Genomic DNAs were extracted from leukocytes, The ten exons and intron-exon boundaries of the OTC gene were PCR amplified and analyzed by Sanger sequencing on an ABI3100 sequencer. Intragenic deletions/duplications were searched for by Multiple Ligation Probe Dependent Amplification assay. Potential impact of non truncating variants on mRNA and protein was predicted using Splice Site Prediction. OTC variants were split into two groups, “severe” and “mild,” based on their impact on the clinical phenotype and on the OTC protein.
Supplemental Data: Table 3, All nuclear family members were tested but no information about their genotype. the condition to be part of this study was the presence of at least one heterozygous female in the pedigree of the patient.
Variant: NM_000531.6:c.766G>T(p.Gly256*)
ClinVarID: 870326
CAID: CA412722685
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
-
Case: no patient ID, Female
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: HP:0001951, HP: 0001987
Case HPO FreeText: episodic hyperammonemia, hyperammonemia
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: "Genomic DNAs were extracted from leukocytes, The ten exons and intron-exon boundaries of the OTC gene were PCR amplified and analyzed by Sanger sequencing on an ABI3100 sequencer. Intragenic deletions/duplications were searched for by Multiple Ligation Probe Dependent Amplification assay. Potential impact of non truncating variants on mRNA and protein was predicted using Splice Site Prediction. OTC variants were split into two groups, “severe” and “mild,” based on their impact on the clinical phenotype and on the OTC protein.
Supplemental Data: Table 3, All nuclear family members were tested but no information about their genotype. the condition to be part of this study was the presence of at least one heterozygous female in the pedigree of the patient.
Variant: NM_000531.6:c.568dupA(p.Thr190Asnfs*35)
ClinVarID: 870328
CAID: CA916083887
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
-
Case: no patient ID, male
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: HP:0003623, HP: 0001987
Case HPO FreeText: Neonatal onset, hyperammonemia
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: "Genomic DNAs were extracted from leukocytes, The ten exons and intron-exon boundaries of the OTC gene were PCR amplified and analyzed by Sanger sequencing on an ABI3100 sequencer. Intragenic deletions/duplications were searched for by Multiple Ligation Probe Dependent Amplification assay. Potential impact of non truncating variants on mRNA and protein was predicted using Splice Site Prediction. OTC variants were split into two groups, “severe” and “mild,” based on their impact on the clinical phenotype and on the OTC protein.
Supplemental Data: Table 3, All nuclear family members were tested but no information about their genotype. the condition to be part of this study was the presence of at least one heterozygous female in the pedigree of the patient.
Variant: NM_000531.6:c.217-2A>G(IVS2)
ClinVarID: 915470
CAID: CA412716751
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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-
drive.google.com drive.google.com
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Case: Patient #27, male, Korean
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: HP:0003593, HP:0003218, HP: 0001987
Case HPO FreeText: Infantile onset, oroticaciduria, hyperammonemia
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: "Potential impact of mutations on OTC function and/or folding assessed by multiple alignments of orthologous protein sequences and human OTC and structural data from Protein Data Bank (1C9Y and available orthologs). In M patients, the approximate extent of the deletions assessed by inspection of presence/absence of PCR products. In F patients, the deletions determined by the SALSA multiplex ligation probe amplification (MLPA) KIT P079 OTC (MRC-Holland, Amsterdam, the Netherlands) and the Affymetrix Human SNP 6.0 array (Santa Clara, CA). Sequence spanning 38,211,736 – 38,300,703 bp region on chromosome X (GRCh37) and including OTC was scanned for motifs CCTCCCT, CCTCCTT, CCTCCCTT, CCCCACCCC, CCNCCNTNNCCNC, GGNGGNAGGG and their complements known as being associated with recombination hotspots. Repeats capable of non-B DNA structure formation implicated in double strand breaks (DSBs) were sought by complexity analysis . X-inactivation ratio determined by analysis of methylation status of the human androgen-receptor locus (HUMARA)
Supplemental Data: Table 1&2, The minimum plasma ammonia, orotic acid and Gln+Glu concentrations depends on certain age range: Plasma ammonia: neonates <90μmol/l, other <60μmol/l. Urinary orotic acid: 0–1year <6.6mmol/mol creatinine, 1 – 10 years <3.5 mmol/mol creatinine, over 10 years <2.4 mmol/mol creatinine. Serum glutamate + glutamine: 0 – 1 month 200–1200μmol/l, 1 month–1year 200–1100μmol/l, 1year–18years 200–900μmol/l, over 18years 200–800μmol/l.
Variant: NM_000531.6:c.929_931del(p.Glu310Valfs*45)
ClinVarID: N/A
CAID: CA916083888
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: Patient #37, female, Korean
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: HP:0011463, HP:0003218, HP: 0001987
Case HPO FreeText: Childhood onset, oroticaciduria, hyperammonemia
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: "Potential impact of mutations on OTC function and/or folding assessed by multiple alignments of orthologous protein sequences and human OTC and structural data from Protein Data Bank (1C9Y and available orthologs). In M patients, the approximate extent of the deletions assessed by inspection of presence/absence of PCR products. In F patients, the deletions determined by the SALSA multiplex ligation probe amplification (MLPA) KIT P079 OTC (MRC-Holland, Amsterdam, the Netherlands) and the Affymetrix Human SNP 6.0 array (Santa Clara, CA). Sequence spanning 38,211,736 – 38,300,703 bp region on chromosome X (GRCh37) and including OTC was scanned for motifs CCTCCCT, CCTCCTT, CCTCCCTT, CCCCACCCC, CCNCCNTNNCCNC, GGNGGNAGGG and their complements known as being associated with recombination hotspots. Repeats capable of non-B DNA structure formation implicated in double strand breaks (DSBs) were sought by complexity analysis . X-inactivation ratio determined by analysis of methylation status of the human androgen-receptor locus (HUMARA)
Supplemental Data: Table 1&2, The minimum plasma ammonia, orotic acid and Gln+Glu concentrations depends on certain age range: Plasma ammonia: neonates <90μmol/l, other <60μmol/l. Urinary orotic acid: 0–1year <6.6mmol/mol creatinine, 1 – 10 years <3.5 mmol/mol creatinine, over 10 years <2.4 mmol/mol creatinine. Serum glutamate + glutamine: 0 – 1 month 200–1200μmol/l, 1 month–1year 200–1100μmol/l, 1year–18years 200–900μmol/l, over 18years 200–800μmol/l.
Variant: NM_000531.6:c.1043delA(p.Gln348Argfs*47)
ClinVarID: N/A
CAID: CA2695233335
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: Patient #35, female, Korean
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: HP:0011463, HP:0003218, HP: 0001987
Case HPO FreeText: childhood onset, oroticaciduria, hyperammonemia
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: "Potential impact of mutations on OTC function and/or folding assessed by multiple alignments of orthologous protein sequences and human OTC and structural data from Protein Data Bank (1C9Y and available orthologs). In M patients, the approximate extent of the deletions assessed by inspection of presence/absence of PCR products. In F patients, the deletions determined by the SALSA multiplex ligation probe amplification (MLPA) KIT P079 OTC (MRC-Holland, Amsterdam, the Netherlands) and the Affymetrix Human SNP 6.0 array (Santa Clara, CA). Sequence spanning 38,211,736 – 38,300,703 bp region on chromosome X (GRCh37) and including OTC was scanned for motifs CCTCCCT, CCTCCTT, CCTCCCTT, CCCCACCCC, CCNCCNTNNCCNC, GGNGGNAGGG and their complements known as being associated with recombination hotspots. Repeats capable of non-B DNA structure formation implicated in double strand breaks (DSBs) were sought by complexity analysis . X-inactivation ratio determined by analysis of methylation status of the human androgen-receptor locus (HUMARA)
Supplemental Data: Table 1&2, This is a large deletion. The minimum plasma ammonia, orotic acid and Gln+Glu concentrations depends on certain age range: Plasma ammonia: neonates <90μmol/l, other <60μmol/l. Urinary orotic acid: 0–1year <6.6mmol/mol creatinine, 1 – 10 years <3.5 mmol/mol creatinine, over 10 years <2.4 mmol/mol creatinine. Serum glutamate + glutamine: 0 – 1 month 200–1200μmol/l, 1 month–1year 200–1100μmol/l, 1year–18years 200–900μmol/l, over 18years 200–800μmol/l.
Variant: NM_000531.6:c.853C>T(p.Gln285*)
ClinVarID: N/A
CAID: CA412723777
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: Patient #34, female, Korean
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: HP:0011463, HP:0003218, HP: 0001987
Case HPO FreeText: childhood onset, oroticaciduria, hyperammonemia
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: "Potential impact of mutations on OTC function and/or folding assessed by multiple alignments of orthologous protein sequences and human OTC and structural data from Protein Data Bank (1C9Y and available orthologs). In M patients, the approximate extent of the deletions assessed by inspection of presence/absence of PCR products. In F patients, the deletions determined by the SALSA multiplex ligation probe amplification (MLPA) KIT P079 OTC (MRC-Holland, Amsterdam, the Netherlands) and the Affymetrix Human SNP 6.0 array (Santa Clara, CA). Sequence spanning 38,211,736 – 38,300,703 bp region on chromosome X (GRCh37) and including OTC was scanned for motifs CCTCCCT, CCTCCTT, CCTCCCTT, CCCCACCCC, CCNCCNTNNCCNC, GGNGGNAGGG and their complements known as being associated with recombination hotspots. Repeats capable of non-B DNA structure formation implicated in double strand breaks (DSBs) were sought by complexity analysis . X-inactivation ratio determined by analysis of methylation status of the human androgen-receptor locus (HUMARA)
Supplemental Data: Table 1&2, This is a manifesting heterozygote. Serum Gln+Glu was considered elevated. The minimum plasma ammonia, orotic acid and Gln+Glu concentrations depends on certain age range: Plasma ammonia: neonates <90μmol/l, other <60μmol/l. Urinary orotic acid: 0–1year <6.6mmol/mol creatinine, 1 – 10 years <3.5 mmol/mol creatinine, over 10 years <2.4 mmol/mol creatinine. Serum glutamate + glutamine: 0 – 1 month 200–1200μmol/l, 1 month–1year 200–1100μmol/l, 1year–18years 200–900μmol/l, over 18years 200–800μmol/l.
Variant: NM_000531.6:c.717+1G>T(IVS7+1G>T)
ClinVarID: 97298
CAID: CA224753
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: Patient #30, female, Korean
DiseaseAssertion: UCD/OTCD
FamilyInfo: N/A
CasePresentingHPOs: HP:0011463, HP:0003218
CaseHPOFreeText: childhood onset, oroticaciduria,
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: "Potential impact of mutations on OTC function and/or folding assessed by multiple alignments of orthologous protein sequences and human OTC and structural data from Protein Data Bank (1C9Y and available orthologs). In M patients, the approximate extent of the deletions assessed by inspection of presence/absence of PCR products. In F patients, the deletions determined by the SALSA multiplex ligation probe amplification (MLPA) KIT P079 OTC (MRC-Holland, Amsterdam, the Netherlands) and the Affymetrix Human SNP 6.0 array (Santa Clara, CA). Sequence spanning 38,211,736 – 38,300,703 bp region on chromosome X (GRCh37) and including OTC was scanned for motifs CCTCCCT, CCTCCTT, CCTCCCTT, CCCCACCCC, CCNCCNTNNCCNC, GGNGGNAGGG and their complements known as being associated with recombination hotspots. Repeats capable of non-B DNA structure formation implicated in double strand breaks (DSBs) were sought by complexity analysis . X-inactivation ratio determined by analysis of methylation status of the human androgen-receptor locus (HUMARA)
Supplemental Data: Table 1&2, Serum Gln+Glu was considered elevated, the minimum plasma ammonia, orotic acid and Gln+Glu concentrations depends on certain age range: Plasma ammonia: neonates <90μmol/l, other <60μmol/l. Urinary orotic acid: 0–1year <6.6mmol/mol creatinine, 1 – 10 years <3.5 mmol/mol creatinine, over 10 years <2.4 mmol/mol creatinine. Serum glutamate + glutamine: 0 – 1 month 200–1200μmol/l, 1 month–1year 200–1100μmol/l, 1year–18years 200–900μmol/l, over 18years 200–800μmol/l.
Variant: NM_000531.6:c.491C>G(p.Ser164*)
ClinVarID: 97220
CAID: CA224642
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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Case: Patient #6, male, Korean
DiseaseAssertion: UCD/OTCD
FamilyInfo: N/A
CasePresentingHPOs: HP:0011463, HP:0001987, HP:0003218
CaseHPOFreeText: Neonatal onset, hyperammonemia, oroticaciduria,
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: "Potential impact of mutations on OTC function and/or folding assessed by multiple alignments of orthologous protein sequences and human OTC and structural data from Protein Data Bank (1C9Y and available orthologs). In M patients, the approximate extent of the deletions assessed by inspection of presence/absence of PCR products. In F patients, the deletions determined by the SALSA multiplex ligation probe amplification (MLPA) KIT P079 OTC (MRC-Holland, Amsterdam, the Netherlands) and the Affymetrix Human SNP 6.0 array (Santa Clara, CA). Sequence spanning 38,211,736 – 38,300,703 bp region on chromosome X (GRCh37) and including OTC was scanned for motifs CCTCCCT, CCTCCTT, CCTCCCTT, CCCCACCCC, CCNCCNTNNCCNC, GGNGGNAGGG and their complements known as being associated with recombination hotspots. Repeats capable of non-B DNA structure formation implicated in double strand breaks (DSBs) were sought by complexity analysis . X-inactivation ratio determined by analysis of methylation status of the human androgen-receptor locus (HUMARA)
Supplemental Data: Table 1&2, the minimum plasma ammonia, orotic acid and Gln+Glu concentrations depends on certain age range: Plasma ammonia: neonates <90μmol/l, other <60μmol/l. Urinary orotic acid: 0–1year <6.6mmol/mol creatinine, 1 – 10 years <3.5 mmol/mol creatinine, over 10 years <2.4 mmol/mol creatinine. Serum glutamate + glutamine: 0 – 1 month 200–1200μmol/l, 1 month–1year 200–1100μmol/l, 1year–18years 200–900μmol/l, over 18years 200–800μmol/l.
Variant: NM_000531.6:c.461_471del(p.Glu154Alafs*18)
ClinVarID: N/A
CAID:CA2695233305
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
Tags
- Gene: OTC
- c.853C>T
- CAID: CA2695233305
- CAID: CA224642
- CAID: CA916083888
- ClinVar: 97220
- Mutation: Frameshift
- c.491C>G
- c.717+1G>T
- c.461_471del
- c.929_931del
- c.1043delA
- Mutation: Splicing LOF
- Mutation: Nonsense
- ClinVar: 97298
- PMID: 23278509
- CAID:CA2695233335
- CAID: CA412723777
- CAID: CA224753
Annotators
URL
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drive.google.com drive.google.com
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Case: Patient #15, male, Korean
DiseaseAssertion: UCD/OTCD
FamilyInfo: N/A
CasePresentingHPOs: HP:0011463, HP:0001987, HP:0003218, HP:0003572
CaseHPOFreeText: Neonatal onset, hyperammonemia, oroticaciduria, low plasma citrulline
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: Genomic DNA was extracted from peripheral blood leukocytes. A total of 10 coding exons and exon–intron boundaries of the OTC gene were amplified by PCR with customized primers. PCR products were directly sequenced with the same primers . Sequencing results were compared with the established human OTC sequences(NM_000531.5). Multiplex ligation-dependent probe amplification analysis was performed for patients in whom no OTC mutations were identified by direct sequencing using the OTC MLPA kit.
Supplemental Data: Table 1, mother is a carrier, no range was given for blood ammonia concentration, range given in the tables for glutamine and urine orotate is slightly different than the one in the results paragraphs.
Variant: NM_000531.6:c.796_805del(p.Ile265_Gly268delinsAspfs*19)
ClinVarID: N/A
CAID:CA2695233326
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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Case: Patient #45, female, Korean
DiseaseAssertion: UCD/OTCD
FamilyInfo: variant in mother (father not tested) and brother
CasePresentingHPOs: HP:0003593, HP:0001987, HP:0003218
CaseHPOFreeText: infantile onset, hyperammonemia, oroticaciduria
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: Genomic DNA was extracted from peripheral blood leukocytes. A total of 10 coding exons and exon–intron boundaries of the OTC gene were amplified by PCR with customized primers. PCR products were directly sequenced with the same primers . Sequencing results were compared with the established human OTC sequences(NM_000531.5). Multiplex ligation-dependent probe amplification analysis was performed for patients in whom no OTC mutations were identified by direct sequencing using the OTC MLPA kit.
Supplemental Data: Table 1, mother is a carrier, the mutation was also found in patient 13(her brother), no range was given for blood ammonia concentration, range given in the tables for glutamine and urine orotate is slightly different than the one in the results paragraphs.
Variant: NM_000531.6c.664_667delinsAC(p.Gly222Thrfs*2)
ClinVarID: N/A
CAID:CA2695233319
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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Case: Patient #42, female, Korean
DiseaseAssertion: UCD/OTCD
FamilyInfo: N/A
CasePresentingHPOs: HP:0011463, HP:0001987, HP:0003218
CaseHPOFreeText: Childhood onset, hyperammonemia, oroticaciduria
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: Genomic DNA was extracted from peripheral blood leukocytes. A total of 10 coding exons and exon–intron boundaries of the OTC gene were amplified by PCR with customized primers. PCR products were directly sequenced with the same primers . Sequencing results were compared with the established human OTC sequences(NM_000531.5). Multiplex ligation-dependent probe amplification analysis was performed for patients in whom no OTC mutations were identified by direct sequencing using the OTC MLPA kit.
Supplemental Data: Table 1, no range was given for blood ammonia concentration, range given in the tables for glutamine and urine orotate is slightly different than the one in the results paragraphs.
Variant: NM_000531.6:c.958C>T(p.Arg320*)
ClinVarID: 97371
CAID:CA285809
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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Case: Patient #44, female, Korean
DiseaseAssertion: UCD/OTCD
FamilyInfo: variant in mother (father not tested)
CasePresentingHPOs: HP:0011463, HP:0001987, HP:0003218, HP:0003217
CaseHPOFreeText: Childhood onset, hyperammonemia, oroticaciduria, hyperglutaminemia
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: Genomic DNA was extracted from peripheral blood leukocytes. A total of 10 coding exons and exon–intron boundaries of the OTC gene were amplified by PCR with customized primers. PCR products were directly sequenced with the same primers . Sequencing results were compared with the established human OTC sequences(NM_000531.5). Multiplex ligation-dependent probe amplification analysis was performed for patients in whom no OTC mutations were identified by direct sequencing using the OTC MLPA kit.
Supplemental Data: Table 1, mother is a carrier, no range was given for blood ammonia concentration, range given in the tables for glutamine and urine orotate is slightly different than the one in the results paragraphs.
Variant: NM_000531.6:c.799_800insA (p.Ser267Lysfs*26)
ClinVarID: N/A
CAID:CA2695233327
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: Patient #30, male, Chinese
DiseaseAssertion: UCD/OTCD
FamilyInfo: no family history of the disease
CasePresentingHPOs: HP:0003593, HP:0001987, HP:0003218
CaseHPOFreeText: infantile onset, hyperammonemia, oroticaciduria
CaseNOTHPOs:
CaseNOTHPOFreeText: No neurological damage
CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.
SupplementalData: Table 3, drug treatment(L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate)
Variant: NM_000531.6:c.929_931del(p.Glu310Valfs*45)
ClinVarID: 858012
CAID:CA916083888
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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Case: Patient #61, female, Chinese
DiseaseAssertion: UCD/OTCD
FamilyInfo:
CasePresentingHPOs: HP:0011463, HP:0001987, HP:0003218, HP:0003572
CaseHPOFreeText: childhood onset, hyperammonemia, oroticaciduria, low plasma citrulline
CaseNOTHPOs:
CaseNOTHPOFreeText: neurological damage
CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.
SupplementalData: Table 3, drug treatment(L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate)
Variant: NM_000531.6:c.868-1G>C
ClinVarID: N/A
CAID:CA412725475
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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Case: Patient #52, female, Chinese
DiseaseAssertion: UCD/OTCD
FamilyInfo: family history of the disease, variant in probands mother and father
CasePresentingHPOs: HP:0011463, HP:0001987, HP:0003218, HP:0003572
CaseHPOFreeText: childhood onset,, hyperammonemia, oroticaciduria, low plasma citrulline
CaseNOTHPOs:
CaseNOTHPOFreeText: neurological damage
CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.
SupplementalData: Table 3, inherited mutation, drug treatment(L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate), low protein diet treatment, and continuous veno venous hemodialfiltration
Variant: NM_000531.6:c.703C>T
ClinVarID: N/A
CAID: CA412721652
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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Case: Patient #20, male, Chinese
DiseaseAssertion: UCD/OTCD
FamilyInfo:
CasePresentingHPOs: HP:0011463, HP:0001987, HP:0003218
CaseHPOFreeText: childhood onset, hyperammonemia, oroticaciduria
CaseNOTHPOs:
CaseNOTHPOFreeText: No neurological damage
CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.
SupplementalData: Table 3, drug treatment (L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate), deceased
Variant: NM_000531.6:c.794G>A(p.Trp265*)
ClinVarID: N/A
CAID:CA412722994
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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Case: Patient #60, female, Chinese
DiseaseAssertion: UCD/OTCD
FamilyInfo: family history of the disease
CasePresentingHPOs: HP:0011463, HP:0001987, HP:0003218, HP:0003572
CaseHPOFreeText: childhood onset,, hyperammonemia, oroticaciduria, low plasma citrulline
CaseNOTHPOs:
CaseNOTHPOFreeText: neurological damage
CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.
SupplementalData: Table 3, inherited mutation, drug treatment(L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate), low protein diet treatment, and continuous veno venous hemodialfiltration
Variant: NM_000531.6:c.718-1G>A
ClinVarID: N/A
CAID: CA412722112
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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Case: Patient #58, female, Chinese
DiseaseAssertion: UCD/OTCD
FamilyInfo: variant pin proband's mother and father CasePresentingHPOs: HP:0003593, HP:0002038, HP:0001987, HP:0003218, HP:0003572
CaseHPOFreeText: infantile onset , protein avoidance, hyperammonemia, oroticaciduria, low plasma citrulline
CaseNOTHPOs: N/A
CaseNOTHPOFreeText: neurological damage
CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purifed and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplifcation analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.
SupplementalData: Table 3, low protein diet treatment and drug treatment(L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate), neurological damage
Variant: NM_000531.6:c.540+265G>A
ClinVarID: 449382
CAID: CA658658977
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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Case: Patient #3, male, Chinese
DiseaseAssertion: UCD/OTCD
FamilyInfo: Family history of the disease, variant in probands mother and father
CasePresentingHPOs: HP:0003623, HP:0001987, HP:0003218
CaseHPOFreeText: neonatal, hyperammonemia , oroticaciduria
CaseNOTHPOs: N/A
CaseNOTHPOFreeText: No neurological damage
CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.
SupplementalData: Table 3, no therapy received, mutation inherited, family history, deceased
Variant: NM_000531.6:c.579G>A
ClinVarID: N/A
CAID: CA412725369
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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Case: Patient #59, female, Chinese
DiseaseAssertion: UCD/OTCD
FamilyInfo: variant in proband's mother and father
CasePresentingHPOs: HP:0003621, HP:0001987, HP:0003218, HP:0003217
CaseHPOFreeText:juvenile onset, hyperammonemia , oroticaciduria, hyperglutaminemia
CaseNOTHPOs: N/A
CaseNOTHPOFreeText: No neurological damage
CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.
SupplementalData: Table 3, drug treatment(L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate)
Variant: NM_000531.6:c.664-1G>A
ClinVarID: 97288
CAID: CA224737
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
Tags
- c.868-1G>C
- cDNA: c.540+265G>A
- c.718-1G>A
- CAID: CA412725369
- CAID: CA658658977
- CAID: CA412725475
- CAID: CA224737
- CAID:CA412721652
- CAID:CA412722112
- c.794G>A
- Mutation: Frameshift
- ClinVar: 858012
- CAID: CA412722994
- ClinVar:97288
- c.929_931del
- PMID: 33272297
- Mutation: Splicing LOF
- c.703C>T
- Mutation: Nonsense
- Gene: OTC
- c.579G>A
- CAID: CA916083888
- c.664-1G>A
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- May 2024
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www.theguardian.com www.theguardian.com
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Im südlichen Teil Brasiliens fvel in diesem Frühjahr in 10 Tagen so viel Regen wie sonst in einem ganzen Jahr. Es handelt sich um die größte klimabedingte Katastrophe im Bundesstaat Rio Grande del Sol der bereits im vergangenen Jahr von zwei großen Überschwemmungen betroffen war. Die extremen Regenfälle, die es so früher in dieser Region nicht gab, werden von Forschenden auf die globale Erhitzung und mit ihr verbundene Klimaphänomene zurückgeführt. Ausführlicher hintergrundartikel im Guardian der sich auf eine Reihe von Studien und Interviews mit Forschenden bezieht. https://www.theguardian.com/global-development/article/2024/may/10/brazil-is-reeling-from-catastrophic-floods-what-went-wrong-and-what-does-the-future-hold
Tags
- Natalie Unterstell
- Civil Defense
- the National Institute of Meteorology (Inmet) ind
- Marcelo Dutra da Silva
- Rio Grande do Sul
- Überschwemmungen in Brasilien Oktober 2023
- Institute of Advanced Studies (IAE)
- Metsul Meteorologia
- increasing risk of floodings
- Überschwemmungen in Brasilien April und Mai 2024
- Wagner Rodrigues Soares
- José Antonio Marengo
- Brazil
- Science Panel for the Amazon
- Joel Goldenfum
- Überschwemmungen in Brasilien September 2023
- by: Jorge C Carrasco
- expert: Carlos Nobre
- Porto Alegre
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aacrjournals.org aacrjournals.org
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RRID:IMSR_RJ:BALB-C-NUDE
DOI: 10.1158/1078-0432.CCR-23-2951
Resource: RRID:IMSR_RJ:BALB-C-NUDE
Curator: @scibot
SciCrunch record: RRID:IMSR_RJ:BALB-C-NUDE
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RRID:IMSR_RJ:BALB-C-NUDE
DOI: 10.1158/1078-0432.CCR-23-2951
Resource: RRID:IMSR_RJ:BALB-C-NUDE
Curator: @scibot
SciCrunch record: RRID:IMSR_RJ:BALB-C-NUDE
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there is a neuron in a seans that responds to temperature and if you take a normal temperature worm 00:36:26 and you put it in high temperature
for - paradigm shift - evolutionary biology - epigenetic's critical role in inheritance - experimental proof - C. Elegan - Oded Rechavi
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english.tau.ac.il english.tau.ac.il
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for - Oded Rechavi - neurobiology - gene centrism - critique - from - youtube podcast interview - book - Understanding Living Systems - Ray Noble - Denis Noble
summary - Rechavi performed experiments with C Elegan and demonstrated that it possesses a type of neuron that - produces RNA that in response to elevated temperature change is transmitted to reproductive cells so that the offsprings encode it in the genome, and it is better adapted to deal with elevated temperatures
question - How many species do this? Is it generally found throughout nature?
from - outube podcast interview - book - Understanding Living Systems - Ray Noble - Denis Noble - https://hyp.is/OUlGVBXrEe-iaBeZhH_4DQ/docdrop.org/video/oHZI1zZ_BhY/
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- Apr 2024
- Mar 2024
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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RRID:IMSR_RJ:BALB-C-NUDE
DOI: 10.1158/2159-8290.CD-23-0954
Resource: IMSR_RJ:BALB-C-NUDE
Curator: @scibot
SciCrunch record: RRID:IMSR_RJ:BALB-C-NUDE
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aacrjournals.org aacrjournals.org
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RRID:IMSR_ORNL:IE-BALB
DOI: 10.1158/1535-7163.MCT-22-0681
Resource: RRID:IMSR_ORNL:IE-BALB-C
Curator: @abever99
SciCrunch record: RRID:IMSR_ORNL:IE-BALB-C
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- Feb 2024
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52.53.155.43 52.53.155.43
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RRID:IMSR_RJ:BALB-C-
DOI: 10.1158/2159-8290.cd-23-0954
Resource: IMSR_RJ:BALB-C-NUDE
Curator: @abever99
SciCrunch record: RRID:IMSR_RJ:BALB-C-NUDE
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www.figma.com www.figma.comFigma1
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testing the account
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universities and public libraries have completed the“retrospective conversions” of their catalogs to computer databases(frequently with the help of federal Title II-C money, as part of the“Strengthening Research Library Resources” program),
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www.brighteon.com www.brighteon.com
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0:03 vitamin C: see also http://orthomolecular.org/resources/omns/v18n14.shtml -- The Restoration of Vitamin C Synthesis in Humans. by Thomas E. Levy and Ron Hunninghake. contrary to popular belief, we humans can produce vitamin C in our body. our vitamin C deficiency is not a genetic defect, but an aquired weakness, because of false nutrition. adding olive oil and olive leaf to the nutrition increases the vitamin C levels in the body. vitamin C is also relevant in fighting cancer (natural cancer cures, Frederick Klenner, Linus Pauling)
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pressbooks.online.ucf.edu pressbooks.online.ucf.edu
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Shall find it–being grown perfect–in himself. Believing, he receives it when the soul Masters itself, and cleaves to Truth, and comes– Possessing knowledge–to the higher peace,
Arjuna struggles with moral decisions while serving his country. Jnana Yoga, often known as the "Yoga of Knowledge," is a highly profound kind of yoga that emphasizes realizing one's own transience and pursuing self-realization. Arjuna's journey through this Yoga illustrates the transformational potential of knowledge by serving as a metaphor for the seeker's journey towards enlightenment. In the face of adversity facing the challenges of line ones Dharma must still be fulfilled. This understanding reveals the moral and ethical beliefs Hindu philosophies operated by. Nonetheless philosophy like this can be applied to our own lives. Regardless of the mountain present in front of us, it is important that we seek and fulfill our life's purpose. .
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Monday had been a walk around the deer park within the walls ofMagdalen College. C. S. Lewis had said that the circular path was the perfectlength for any problem. It was true.
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- Jan 2024
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www.msnbc.com www.msnbc.com
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“A second Trump term is game over for the climate — really!”
for - quote - Michael Mann - quote - a Second Trump presidency - polycrisis - politics and climate crisis - climate mitigation strategy - voting in 2024 U.S. election - adjacency - Michael Mann - 2nd Trump presidency - exceeding planetary boundaries - exceeding 1.5 Deg C - Gen Z voting
adjacency - between - Michael Mann - 2nd Trump presidency - exceeding planetary boundaries - exceeding 1.5 Deg C - Trump's presidency is existential threat to humanity - Gen Z voting - 2024 election - adjacency statement - Michael Mann's quote " A second Trump term is game over for the climate - really" applies to the 2024 election if Trump becomes the Republican nominee. - Trumps dismal environmental record in his 2016 to 2020 term speaks for itself. He would do something similiar in 2025 if he were the president. G - Given there are only 5 years and 172 days before we hit the dangerous threshold of burning through all the carbon budget for humanity, - https://climateclock.world/ - It is questionable whether Biden's government alone can do enough, but certainly if Trump won the 2024 election, his term in office would create a regression severe enough to put the Paris Climate goal of staying within 1.5 Deg C out of reach, and risk triggering major planetary tipping points - A Biden government is evidence-based and believes in anthropogenic climate change and is already taking measures to mitigate it. A Trump government is not evidence-based and is supported by incumbent fossil fuel industry so does not have the interest of the U.S. population nor all of humanity at heart. - Hence, the 2024 U.S. election can really determine the fate of humanity. - Gen Z can play a critical role for humanity by voting against a government that would, in leading climate scientists Michael Mann's words, be game over for a stable climate, and therefore put humanity and unimaginable risk. - Gen Z can swing the vote to a government willing to deal with the climate crisis over one in climate denial so voting activists need to be alerted to this and create the right messaging to reach Gen Z - https://hyp.is/LOud7sBBEe6S0D8itLHw1A/circle.tufts.edu/latest-research/41-million-members-gen-z-will-be-eligible-vote-2024
Tags
- polycrisis - political crisis - climate crisis
- quote - Michael Mann
- climate mitigation strategy - voting in the 2024 U.S. election
- adjacency - Michael Mann - 2nd Trump presidency - exceeding planetary boundaries - exceeding 1.5 Deg C - Gen Z voting
- quote - A second Trump presidency - climate disaster
- polycrisis - politics - climate crisis
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( 1) The rearranging of the file, as I have already said, isone way. One simply dumps out heretofore disconnectedfolders, mixing up their contents, and then re-sorts themmany times. How often and how extensively one does thiswill of course vary with different problems and the devel-opment of their solutions. But in general the mechanics ofit are as simple as that.
The first part of "sociological imagination" for Mills is what I term combinatorial creativity. In his instance, at varying intervals he dumps out disconnected ideas, files and resorts them to find interesting potential solutions.
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www.repubblica.it www.repubblica.it
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now we are facing a high risk of overshooting 1.5°C - at best - for several decades. Currently, we must admit that we do not know what the consequences are of such an overshoot, i.e., we do not know how long time the big tipping point systems - like the Gulf Stream or the Coral Reef systems, can cope with high risk temperatures above 1.5°C.
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for: quote - Johan Rockstrom, quote - uncertainty at 1.5 Deg C for years
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quote: Johan Rockstrom
- now we are facing a high risk of overshooting 1.5°C - at best - for several decades. Currently, we must admit that we do not know what the consequences are of such an overshoot, i.e., we do not know how long time the big tipping point systems - like the Gulf Stream or the Coral Reef systems, can cope with high risk temperatures above 1.5°C.
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- Dec 2023
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www.heilpflanzen-welt.de www.heilpflanzen-welt.de
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Polyphenole sind ein Grundstoff für die körpereigene Vitamin C Synthese.
Die "offizielle Geschichte" behauptet, Menschen haben einen Gendefekt, der die Vitamin C Synthese verhindert... aber das ist eine Lüge, wie so viele andere "offizielle Geschichten" auch. Siehe auch: Official Stories. by Liam Scheff. Official stories exist to protect officials.
http://orthomolecular.org/resources/omns/v18n14.shtml
The Restoration of Vitamin C Synthesis in Humans
The full importance of vitamin C remains unappreciated by most health care practitioners today, as it is the most important nutrient in the body, and daily intake must be multigram in amount to even approach the benefits that vitamin C affords the body when optimally present. It has been well-established that the higher the blood levels of vitamin C, the longer and healthier the life.
The inability of most human livers to make vitamin C from glucose appears to be a combination of genetic and epigenetic defects. However, it has been discovered that the intake of hydroxytyrosol (HT) in the form of a quality olive leaf extract allows most of the consumers to substantially increase their blood levels of vitamin C. It would appear that HT effectively overcomes an epigenetic translation defect allowing the formation of GULO which can then complete the synthesis of vitamin C in the liver. And while the underlying genetic details remain to be clarified and completely understood, multiple studies have indicated that many humans do make vitamin C in utero and after birth, clearly indicating that the ability to synthesize vitamin C is a lost ability, rather than one that was never present. This also indicates that epigenetic (acquired) defects likely play the major role in adults not having the ability to make vitamin C.
Limited and small experiments have also indicated that humans supplementing HT not only have the return of the ability to make vitamin C, but also the ability to make much larger amounts of vitamin C when faced with acute toxic and/or infectious oxidative stress in the blood. This ability would be profoundly synergistic with all other beneficial treatments for different medical conditions.
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twitter.com twitter.com
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Brian Stephenson@bstephen2·Aug 5, 2020As for the Pirnie collection, not counted it, but I am slowly going through it for my online #ChessProblem database: http://bstephen.me.uk/meson/meson.pl?opt=top… . Also going through several boxes of the White-Hume Collection which I have.
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www.resilience.org www.resilience.org
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for: climate solutions - low economic growth, Jason Hickel,
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climateuncensored.com climateuncensored.com
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For a flip-of-a-coin chance of staying at or below 1.5°C we have, globally, just five to eight years of current emissions before we blow our carbon budget
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for: 1.5 Deg C target - 50/50 chance
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comment
- What most people don't recognize and pay attention to is 50/50 chance that is part of the 1.5 Deg C target.
- The world is up in arms about the 1.5 Deg C target when it ONLY GIVES US A 50/50 CHANCE!
- These are not great odds! In fact, THESE ODDS ARE TERRIBLE! What if you were given those chances in your cancer treatment? You would be concerned, wouldn't you?
- So what would an intervention closer to 90% chance of staying under 1.5 Deg C look like? If people consider today's intervention impossible, then a 90% chance would be beyond impossible. This is the nature of the challenge we face!
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i have absolutely no doubt about that if we go even to three degrees warming and we're about 1.2 right at the moment above pre-industrial temperatures but if we go to even three degrees warming there isn't an ecosystem on the planet 00:35:24 that will not be shredded by that and there's no prospect for anything resembling liberal democracy to serve to survive in a world that's three degrees warmer than it was pre-industrial times
- for: 3 Deg C world - catastrophic
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sonec.org sonec.org
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Common objective on a local level, like a specific problemNeighbourhood cooperation to build better relationships, without a specific objectiveAn individual takes the initiative to build a neighbourhood community, driven by a visionof a better world.
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for: question - SONEC alignment to earth system boundaries
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question
- Stop Reset Go's objective is to find global community partners who can help motivate a local community strategy aligned with the tight timeframe to stay under 1.5 Deg C.
- Is SONEC open to working on a strategic to empower communities in this way?
- We can offer it as an optional framework that the community can integrate into their final framework
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It may be that the climate denialists, even in the 1980s, knew this very well. They denied global heating because they saw it meant social and political change on a scale never seen before. An economic system that had made millions rich and billions at least comfortable would collapse. For those who’ve benefited from the system, death is less frightening than poverty.
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for: quote - staying under 1.5 Deg C
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quote: staying under 1.5 Deg C
- It may be that the climate denialists, even in the 1980s, knew this very well.
- They denied global heating because they saw it meant social and political change on a scale never seen before.
- An economic system that had made millions rich and billions at least comfortable would collapse.
- For those who’ve benefited from the system, death is less frightening than poverty.
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Cutting emissions back to bring global temperatures down to 1.5 C or 2 C would be the equivalent of shutting down China, the United States, India, Japan and Russia.
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for: stats - staying under 1.5 Deg C
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stats: staying under 1.5 Deg C
- is equivalent to shutting down the economies of China, the US, India, Japan and Russia
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Not large enough for most index card collections, but you have to love this listing for this photo of a man snuggling up to his card index:
Original photo from their website:
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picturing.climatecentral.org picturing.climatecentral.org
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for: visualizations - sea level rise at 3 Deg C
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comment
- Look to canal cities like Venice or Amsterdam for inspiration because if it cities are salvagable, parts of them will become canal cities.
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- Nov 2023
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In a scenario that hits global net zero emissions by 2050, declines in demand are sufficiently steep that no new long lead-time conventional oil and gas projects are required. Some existing production would even need to be shut in. In 2040, more than 7 million barrels per day of oil production is pushed out of operation before the end of its technical lifetime in a 1.5 °C scenario.
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for: stats - oil and gas industry - steep drop in production
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stats - oil and gas industry - steep drop in production
- no new fields can be developed to meet a 1.5 Deg C scenario
- any new developments face the certain risk of being a stranded asset
- by 2040, 7 million less barrels of oil are produced each day to meet a 1.5 Deg C scenario
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If all national energy and climate goals are reached, this value is lower by 25%, and by 60% if the world gets on track to limit global warming to 1.5 °C.
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for: stats - fossil fuel industry - valuation in a 1.5 Deg C world
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stats: fossil fuel industry - valuation in a 1.5 Deg C world
- current 2023 valuation: 6 trillion USD
- current NDCs met (short of a 1.5 Deg C world): 4.5 trillion USD
- 1.5 Deg C world: 2.4 trillion USD
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if governments deliver in full on their national energy and climate pledges, then oil and gas demand would be 45% below today's level by 2050 and the temperature rise could be limited to 1.7 °C. If governments successfully pursue a 1.5 °C trajectory, and emissions from the global energy sector reach net zero by mid-century, oil and gas use would fall by 75% to 2050.
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for: Nationally Determined Contributions insufficient to meet 1.5 Deg C, NDC insufficient to meet 1.5 Deg C
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stats: climate change - NDC
- current NDCs
- 45% reduction in fossil fuel usage by 2050
- NDCs to meet 1.5 Deg C
- 75% reduction in fossil fuel usage by 2050
- current NDCs
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Tags
- stats - oil and gas industry - no new fields to meet 1.5 Deg C
- Nationally Determined Contributions insufficient to meet 1.5 Deg C.
- stats - climate change - NDC
- stats - oil and gas industry - steep drop in production to meet 1.5 Deg C
- NDCs insufficient to meet 1.5 Deg C
- stats - fossil fuel industry - valuation in a 1.5 Deg C world
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And so, in colonialcircumstances, the bard could become symptomatic and symbolic of theeducation of Africans and Caribbeans into a passive, subservient rela-tionship to dominant colonial culture
Point C
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When the man-monster, brutalised by long continued torture, be-gins, 'This island's mine, by Sycorax my mother, which thou takestfrom me', we have the whole case of the aboriginal against aggressivecivilisation dramatised before us. I confess I felt a sting of con-science-vicariously suffered for my Rhodesian friends, notablyDr. Jameson-when Caliban proceeded to unfold a similar caseto that of the Matebele
"it services decolonialism by possibly enganging within the reader a sense of empathy for caliban"
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hat that's going to mean is that a lot of the things um that again that this wealthy say onethird of our society has normalized will have to change the size of our houses 00:12:01 we shouldn't be building really huge houses anymore I would also go further and say if we are really serious about climate change we need to think about the very large properties that we have which there are many of in our society 00:12:12 that need to be divided to make good quality and reasonable sized houses for say three or four families rather than just one family no more second homes and where second homes are in areas where other 00:12:25 people need to live they are no longer allowed to exist so no more second homes
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for: staying within 1.5 Deg C - elites - lifestyle changes - property and building
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example:
- Vancouver, B.C. has artificially inflated property market
- Local Vancouver city government does not want to change bylaws that advantage elites
- Climate change equity issues need to become part of the argument
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github.com github.com
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I guess we should look at what CRuby does here but the autoload logic in CRuby seems particularly unreadable.
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craftsmanship
this single word for some humanists is likely to call forward the idea of
Mills, C. Wright. “On Intellectual Craftsmanship (1952).” Society 17, no. 2 (January 1, 1980): 63–70. https://doi.org/10.1007/BF02700062.
I know it did for me...
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www.youtube.com www.youtube.com
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I think you should all know that I did not come here tonight to make fun of Don Rickles. Neither did I come here to trade barbs, because it would take a comedian to do the first and a true wit to do the second.
Instead, I've come here tonight to say something nice about Don Rickles. And for that, you have to have an actor. —George C. Scott, at a roast of Don Rickles
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