1. Last 7 days
    1. “How long have I been out this time? You're a lot taller than I remember. And whatever flowy thing is going on with your mane is not working for you.”

      Is it because of magic growth cream, or Interstellar Shine Shampoo?

    1. Identify and skeletonize the posterior belly of the digastric muscle. Do not dissect cephalad of the muscle as one may injure the facial nerve (Figure 16)

      Nguyên tắc ở bước này là chỉ bộc lộ thân cơ để làm "biển báo" dẫn đường, sau đó phẫu tích thật thận trọng ở góc giữa nó và mỏm trâm để tìm dây VII, tuyệt đối không xâm lấn lên vùng mô mềm phía trên cơ nếu chưa kiểm soát được dây thần kinh.

    1. Case 3

      Case#: Case 3, Sex: Male, Age:21

      DiseaseAssertion: STGD

      FamilyInfo: n/a

      CasePresentingHPOs:

      CaseHPOFreeText: Text mentions BCVA of 20/200 in both eyes. Pigmentary changes in macula associated with flecks, small inferior juxta-papillar area of subretinal fibrosis in right eye, left eye legion localized in posterior pole macula temporally. Instable fixation in right eye. Low retinal mean sensitivity in both eyes.

      CaseNotHPOs:n/a

      CaseNotHPOFreeText: Healthy ocular adnexa and specular transparent and 'in situ' lens. Visual acuity stable. Stable fixation in left eye.

      Genotyping Method: genetic analysis

      PreviouslyPublished: n/a

      Variant: Variant is a heterozygous mutation given as NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu) / NM_000350.3(ABCA4):c.667A>C (p.Lys223Gln) / NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg)

      ClinVar: Variation ID: 99208 / Variation ID: 845426/ Variation ID: 417989

      SupplementalData: n/a

    1. Case 3: RP3.03

      Case#: RP3.03, 23yo, 21yo on set, Moroccan

      DiseaseAssertion: Retinitis Pigmentosa (RP19)

      FamilyInfo: Born into a consanguineous family, parents are unaffected, has five unaffected siblings

      CasePresentingHPOs: HP:0000505, HP:0007675, HP:0001133, HP:0007994, HP:0007843, HP:0000510, HP:0000580, HP:0007703

      CaseHPOFreeText: Abnormal epiretinal membrane formation, Altered ERG traces, rod and cone photoreceptor dysfunctions, hyper fuorescence ring surrounding macula and peripheral retina, absence of cystic spaces

      CaseNotHPOs: HP:0000551

      CaseNotHPOFreeText: Central vision loss

      Genotyping Method: Genomic DNA was extracted using QIAamp DND Blood Mini Kit, DNA underwent WES by BGI Tech Solutions, DNA was captured by MGIEasy Exome Capture V4 Probe Set, then Alligned using the Burrows-Wheeler Aligner and HaplotypeCaller of GAWK

      PreviouslyPublished: CRB1, PDE6B

      Variant: c.5908C>T, c.6148G>C

      ClinVar: 7892, 7884

      SupplementalData: Clinical data (table 1, figure 5), Genetic analysis (table 2), Patient Pedigree (figure 1.)

    1. ABCA4ARc.[1957C > T];[4605insT]WESHuang et al., 2013cHuang et al., 2013c, Rivera et al., 2000

      Case#: QT959, Chinese

      DiseaseAssertion: Cone-rod dystrophy

      FamilyInfo: no pedigree provided for this family in this paper

      CasePresentingHPOs:

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText:

      PreviouslyPublished: 23776498-more phenotype information available there

      Variant: c.[1957C > T];[4605insT] on WES

      ClinVar: n/a

      CAID: CA645372205

      SupplementalData: n/a

    1. The proband

      Case#: 34 y.o female proband, caucasian(German), diagnosed with Stargardt, late onset.

      DiseaseAssertion: STGD

      FamilyInfo: Unaffected father, mother exhibiting retinal disease. Biparental history of glaucoma and AMD, pattern dystrophy on maternal side.

      CasePresentingHPOs:HP:0001129, HP:0007722 ,HP:0007663, HP:0030329, HP:0007814, HP:0000608

      CaseHPOFreeText: Proband exhibits retinal thinning in all retinal layers, alongside chorioretinal atrophy. Experienced increased central vision loss over the course of a decade. At time of study, diagnosed with Stargardt disease. Visual acuity 20/200 in right eye and 20/40 in left. Additionally found granular molting of retinal pigment epithilium.

      CaseNotHPOs:n/a

      CaseNotHPOFreeText:n/a

      Genotyping Method: WES and variant calling performed at Columbia Institute for Genomic Medicine.

      PreviouslyPublished:n/a

      Variant: rs61751407, c.5714+5G>A

      ClinVar: 432057

      CAID: n/a

      SupplementalData: n/a

    1. We found statistically significant association for six variations (c.1268A>G, c.4203C>A, c.5603A>T, c.5682G>C, c.5843C>T, c.6249C>T) (FDR < 0.05, Supplementary Table S4)

      This paper is listed under the ClinVar citations for this variant, but only as a paper that references other variants in the initiator codon that have been observed in individuals with ABCA4-related conditions. The actual initiator variant included in this paper is c.1A>G

    1. Postmortem Retinal Structural and Metabolic Analysis After Human Embryonic Stem Cell–derived Retinal Pigment Epithelium Transplantation in a Patient With Stargardt Disease

      PCMID:*PMC12657203

      PMID41323838

      Gene: ABCA4

      HGNC ID: 34

      Case#:80 year old man,

      DiseaseAssertion:NA

      FamilyInfo:NA

      CasePresentingHPOs:NA

      CaseHPOFreeText:Diagnosed w/ targardt disease at the age of 18 years, medical retierment at 64 as result

      CaseNotHPOs:*parkinsons at 80

      CaseNotHPOFreeText:NA

      Genotyping Method:NA

      PreviouslyPublished:NA

      Variant:after gentic testing (unspecified) a pathogenic heterozygous mutation (G1961E) in ABCA4 gene a substiution, GAA) at amino acid position 1961, or c.5882 G>A at the complementary DNA level, or pGly1961Glu or G1961E at the protein level. No second mutation was identified. One of his 2 sisters had the same mutation.

      ClinVar:NA

      CAID:NA

      SupplementalData:this goes into how eye retina transplant results and outcomes.

    1. a 12-year-old female

      Case#: a 12-year-old female admitted to the B Department Hédi Raies institut of Ophtalmology in Tunis, Tunisia

      DiseaseAssertion: Cone rod dystrophy

      FamilyInfo: No parental consanguinity nor pathological or opthalmological history in the family

      CasePresentingHPOs: HP:0000529, HP:0000662, HP:0001141, HP:0000543,HP:0007737, HP:0030602

      CaseHPOFreeText: progressive visual loss, poor night vision, 1/20 visual acuity in both eyes, pallor of the optic disk, attenuated retinal vessels, paravascular bone spiculed pigmentations and an epimacular membrane, paravascular and macular heterogeneous hypoautofluorescence, diffuse alteration of ellipsoid zone, decreased photopic and scotopic responses.

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      Genotyping Method: Whole exome sequencing, Sanger sequencing

      PreviouslyPublished: NR

      Variant: c.885delC, NM_000350.3

      ClinVar: 438109

      CAID: CA958684

      SupplementalData: Karyotyping showed monosomy 45,X in the patient

    1. The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

      PMID: 28600779

      Gene: ABCA4

      HGNCID: HGNC:34

      MonDO:

      Case: 16N-0520, Male, Saudi Arabia, 1 yo

      DiseaseAssertion:

      FamilyInfo: Consanguineous parents, positive family history

      CasePresentingHPOs: HP:0000618, HP:0000648 (Blindness, Optic atrophy)

      CaseHPOFreeText: Coloboma of eye

      GenotypingMethod: WES, analysis of Vision Panel, constituent genes are described in PMID 26112015.

      SupplementalData: Supplemental table

      Variant: ABCA4:NM_000350:exon49:c.6764G>T:p.S2255I

      CAID: CA202970

      gnomAD: 0.4845 (gnomAD v4.0.0, Grpmax Filtered AF African/African-American) https://gnomad.broadinstitute.org/variant/1-93996161-C-A?dataset=gnomad_r4

      VariantEvidence: Authors classified as VOUS. But later downgraded to LB in PMID 31130284.

    1. The study cohort consisted of 643 individuals of (mostly Eastern) European descent. Of these, 2 ABCA4 mutations were identified in 437 cases (68%), 1 mutation in 117 cases (18%) and 0 mutations in 89 cases (14%) (see online supplementary table 1), leaving ~23% of disease-associated alleles in 32% of patients yet to be identified. Almost all patients with no ABCA4 mutations and ~50% of patients with 1 mutation have been screened by whole exome sequencing to determine if variants in other genes were causal in these cases. All cases, where disease-associated variants in other genes were detected, were excluded from this cohort.

      Case#: Case #3483, likely European, 10yo at onset

      DiseaseAssertion: ABCA4 disease

      FamilyInfo: n/a

      CasePresentingHPOs:

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText: foveal sparing

      GenotypingMethod: NGS, Sanger

      PreviouslyPublished: n/a

      Variant: c.2453G>A (p.Gly818Glu); c.4462T>C (p.Cys1488Arg)

      ClinVar: 99135

      CAID: CA227000

      SupplementalData: supplemental table 1

    1. STGD47/164 IVS13+1G→A 2588G→C Yes

      Case#: STGD47/164, 10-14yo at onset, German

      DiseaseAssertion: STGD

      FamilyInfo: segregation in family

      CasePresentingHPOs:

      CaseHPOFreeText: "The diagnosis of STGD was based on the demonstration of bilateral impairment of central vision and the appearance of perimacular and/or peripheral yellow-white flecks, with or without atrophy of the central retinal-pigment epithelium and a normal or only mildly abnormal flash electroretinogram when recorded in early stages of the disease."

      CaseNotHPOs:

      CaseNotHPOFreeText:

      GenotypingMethod: denaturing gradient gel electrophoresis, dHPLC, and SSCP analysis, PCR amplification of individual coding exons and flanking intron sequences, direct DNA sequencing

      PreviouslyPublished: n/a

      Variant: IVS13+1G→A; 2588G→C in trans "Correct segregation of disease alleles was demonstrated in all 39 cases in which family samples were available for study"

      ClinVar: 7879

      CAID: CA119128

      SupplementalData: n/a

    1. A total of 88 eyes of 44 patients (32 female [73%]) with a mean age at examination of 37.6 ± 2.5 years (±SEM; range, 9–77 years) were included in this study (Table 1, Supplementary Table S1). Forty-one patients were found to have two disease-causing mutations. Three patients had only one disease-causing mutation but showed a phenotype consistent with ABCA4-related retinopathy.

      Case#: Patients #33 and 34, female, 63 and 61yo at report, respectively, German

      DiseaseAssertion: ABCA4-related retinopathy

      FamilyInfo: n/a but they could be related

      CasePresentingHPOs:

      CaseHPOFreeText: "Inclusion criteria comprised the presence of at least one disease-causing mutation in ABCA4 and a phenotype consistent with ABCA4-related retinopathy, including RPE atrophy and flecks." BCVA [LogMAR] for patient #33: OD= 0.4, OS= 0.1. BCVA [LogMAR] for patient #34: OD= 1.5, OS= 1.0. Reduced (over 2 SD) photopic B-wave and 30-Hz flicker amplitudes

      CaseNotHPOs:

      CaseNotHPOFreeText: Insufficient pupil dilation, additional retinal pathology, previous vitreoretinal surgery, or other ocular comorbidities substantially affecting visual function (e.g., significant media opacity, amblyopia, or optic nerve disease) led to exclusion. Abnormal responses on scotopic and photopic full-field ERG

      GenotypingMethod:

      PreviouslyPublished: likely the same patients as other Muller papers in this curation

      Variant: c.3468C>G p.(Tyr1156*) and c.5059A>T p.(Ile1687Phe)

      ClinVar: n/a

      CAID: CA341290648

      SupplementalData: Table S1 has genotype/phenotype info for probands

    1. 1545c.6221G>Tp.G2074V (D; N)16c.2453G>Ap.G818E (D)Compound heterozygous

      Case#: Sporadic Case #15, Mexican

      DiseaseAssertion: Stargardt

      FamilyInfo: n/a

      CasePresentingHPOs:

      CaseHPOFreeText: STGD diagnosis based on: "onset of symptoms in childhood or early adulthood (before 20 years of age), bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the mid periphery, normal caliber of the retinal vessels, no pigmented bone spicules in the retinal periphery, a normal to subnormal electroretinogram, and a typical dark choroid in fluorescein angiography."

      CaseNotHPOs:

      CaseNotHPOFreeText:

      PreviouslyPublished: n/a

      Variant: allele 1: c.6221G>T (p.G2074V) allele 2: c.2453G>A (p. G818E); direct sequencing of exons of ABCA4

      ClinVar: 99135

      CAID: CA227000

      SupplementalData: n/a

    1. STGD in 48 patients (55%) was explained by recessive ABCA4 mutations (supplemental table S2). Only 22 patients could be solved using previously known STGD causing mutations. However, we identified 35 novel mutations in ABCA4 contributing to the diagnosis of 25 STGD patients. This contained 10 novel mutations leading to amino acid substitutions already known to cause disease and mutations known to cause diseases other than STGD. In addition, we identified 13 novel nonsense mutations. The remaining 12 novel mutations are well justified, and novel mutations were either completely absent or extremely rare in controls.

      Case#: Patient #9, Canadian

      DiseaseAssertion: Stargardt

      FamilyInfo: n/a

      CasePresentingHPOs: "Clinical diagnosis of STGD was made when the patient, usually a child, developed central visual acuity loss with an atrophic maculopathy with or without flecks." No individual details

      CaseHPOFreeText: n/a

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      PreviouslyPublished: n/a

      Variant: c.6383 A>G p.(H2128R); c.785 G>A p.(G1961E)

      ClinVar: 99455

      CAID: CA227399

      SupplementalData: info found in table S2

    1. Figure 3: Protein yield and ATP-binding capacity of 37 naturally occurring ABCR variants produced in transiently transfected 293 cells.Membranes were analysed by immunoblotting with affinity-purified anti-ABCR antibodies (top) and photoaffinity labelling with α-32P azido-ATP (bottom). We loaded 1 μg (immunoblotting) or 2.5 μg (azido-ATP labelling) of total membrane protein, as determined by Bradford assay, per track. The mutations that reside in NBD-1 and NBD-2 are indicated above the corresponding lanes. The relative levels of the different variant proteins and the extent of azido-ATP labelling were observed to be highly reproducible in multiple independent experiments. ABCR (large arrowhead); an endogenous 55-kD protein (small arrowhead) serves as an internal control for azido-ATP labelling. Molecular mass standards are shown on the left in kD.

      This variant was transfected into HEK 293 cells and appears to show reduced expression and ATP-binding capacity, but no quantities were provided

    1. multiplication

      Composition in python

      ``` from sympy import symbols

      x, y = symbols('x y')

      def f(w): u, v = w return [5u + 6v, 7u + 8v]

      def g(w): x, y = w return [x + 2y, 3x + 4*y]

      f(g([x, y])) ```