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671 articles
November 20266
Germline Genetic Variants and Epilepsy Surgery Response: Individual Participant Pooled Analysis of 272 Patients.
This systematic review and individual-participant pooled analysis examined seizure outcomes after resection or laser ablation in 272 people with pathogenic or likely pathogenic germline epilepsy variants, excluding…
Severe neuropsychiatric manifestations in a 17-year-old male with a 20p13 interstitial deletion encompassing CSNK2A1: a case report.
A 17-year-old male had a de novo interstitial 419 kb deletion at 20p13 encompassing CSNK2A1. His presentation was considered compatible with Okur-Chung neurodevelopmental syndrome, although the deletion was described as…
A Neonate With Excessive Weight Loss and Electrolyte Abnormalities.
A 7-day-old girl was hospitalized for excessive weight loss. Initial testing showed hyponatremia and hyperkalemia, prompting evaluation for endocrine, renal, and metabolic causes.
Genotypic-Phenotypic Correlations in Non-HbE β-Thalassemia Intermedia: A Geographic Systematic Review.
This PRISMA-guided systematic review qualitatively synthesized 21 studies of genotype–phenotype correlations in non-HbE β-thalassemia intermedia, a heterogeneous disorder now included within non-transfusion-dependent…
Father-Daughter Autosomal Recessive Gitelman Syndrome Caused by Compound Heterozygous Variants in the SLC12A3 Gene.
A Chinese father and daughter were found to have Gitelman syndrome, a kidney tubular disorder associated with pathogenic SLC12A3 variants.
The shared genetic architecture of the TDP-43 spectrum: Bridging clinical FTLD and neuropathological endophenotypes.
This inverse-variance fixed-effects and random-effects meta-analysis examined shared genetic associations across neuropathological TDP-43 conditions and clinically diagnosed frontotemporal lobar degeneration (FTLD).
October 202618
COQ8A-Associated Ataxia in a Colombian Patient Presenting with Bilateral Ptosis and Response to CoQ10 Supplementation.
A 67-year-old woman with consanguineous parents had gait instability and exercise intolerance from age 10, progressing very slowly.
Prenatal Microarray Incidentally Diagnoses a Novel Inherited NF1 Intragenic Duplication.
A woman with an undisclosed clinical diagnosis of NF1, lost to follow-up as a teenager, received a molecular diagnosis after prenatal chromosome microarray was performed because first-trimester screening indicated a…
Robotic-Assisted Partial Nephrectomy in a Solitary Kidney in a von Hippel-Lindau Renal Cell Carcinoma.
A 37-year-old man with von Hippel-Lindau disease and a solitary right kidney after left radical nephrectomy had three progressive clear cell renal cell carcinoma lesions, the largest 4.8 cm, despite belzutifan.
MLH1 AND MSH2 PROTEIN EXPRESSION LOSS AND MICROSATELLITE INSTABILITY IN COLORECTAL ADENOMAS OF PATIENTS WITH LYNCH SYNDROME: A SYSTEMATIC REVIEW AND META-ANALYSIS.
This systematic review and meta-analysis assessed the relationship between microsatellite instability (MSI) and loss of MLH1 or MSH2 expression in colorectal adenomas from people with Lynch syndrome.
PIH1D2 Loss-of-Function Directs Ciliary and Cell Cycle Defects Resulting in Left Isomerism With or Without Biliary Atresia.
Two unrelated patients with left isomerism heterotaxy were found by genome sequencing to have biallelic loss-of-function variants in PIH1D2.
Expanding the molecular and phenotypic spectrum of MMP2-related multicentric osteolysis, nodulosis, and arthropathy: two brothers with marked intrafamilial variability and a review of the literature.
Two brothers, aged 14 and 8 years, from a consanguineous family had molecularly confirmed MMP2-related multicentric osteolysis, nodulosis, and arthropathy (MONA), with the same homozygous c.1648 C > T (p.Arg550Ter)…
Infantile posterior fossa atypical teratoid/rhabdoid tumor: navigating diagnostic complexity and molecular paradigms.
A female infant younger than 1 year presented with a massive cystic-solid posterior fossa tumor and rapidly developing obstructive hydrocephalus.
Double heterozygous pathogenic germline APC and MSH2 variants in a 16-year-old female diagnosed with colorectal cancer.
A 16-year-old female presented with multiple colonic polyps and invasive colorectal carcinoma. Genetic testing identified heterozygous pathogenic variants in both APC and MSH2, consistent with the genetic basis of…
A missense variant in LAMB3 underlies variable expressivity in familial tooth agenesis and microdontia.
A three-generation family presented with non-syndromic dental anomalies, including missing teeth (oligodontia), microdontia and delayed eruption.
Familial Glioma in a Father and Son: Integrated Genomic and Multi-compartment Proteomic Profiling.
A 60-year-old father and his 35-year-old son presented with gliomas. The father’s tumor was glioblastoma, IDH-wildtype, WHO grade 4, with an unmethylated MGMT promoter; the son’s was astrocytoma, IDH-mutant, WHO grade…
COLOBOMA ASSOCIATED WITH VACTERL CHARACTERIZED BY ULTRA-WIDEFIELD OPTICAL COHERENCE TOMOGRAPHY.
A 34-week-old infant admitted for repair of type C tracheoesophageal fistula with esophageal atresia and management of pelviectasis and low conus medullaris underwent routine retinopathy of prematurity screening.
A CASE OF CHOROIDAL NEOVASCULAR MEMBRANE IN ENHANCED S-CONE SYNDROME TREATED WITH AFLIBERCEPT.
An 18-year-old male presented after six days of declining vision in his left eye. Testing showed foveomacular schisis in the right eye and active choroidal neovascularization in the left; further evaluation confirmed…
SUCCESSFUL MANAGEMENT OF A GIANT MACULAR HOLE IN ALPORT SYNDROME USING AUTOLOGOUS RETINAL TRANSLATION AS AN INITIAL PROCEDURE.
A 30-year-old woman with Alport syndrome had bilateral anterior lenticonus and a giant full-thickness macular hole in her right eye, measuring 1,791 μm.
PARS PLANA VITRECTOMY WITH FOVEAL CYST ASPIRATION AS A TREATMENT OPTION FOR MACULAR RETINOSCHISIS IN A COATS-LIKE RETINITIS PIGMENTOSA CASE.
A 45-year-old woman with CRB1 mutation-related retinitis pigmentosa was referred for surgery for macular detachment. Examination and imaging showed bilateral bullous macular retinoschisis associated with Coats-like…
Pearls & Oy-sters: Beyond the Bone Marrow-VEXAS Syndrome Presenting as Subacute Encephalomyelitis.
A 70-year-old man with myelodysplastic syndrome and confirmed VEXAS syndrome (UBA1 p.Met41Thr) developed subacute ascending paresthesia, Lhermitte sign, and urinary hesitancy.
Germline BRCA-Lynch syndrome MINAS: report of six Argentinian families and a systematic review of the literature.
This report combined six Argentinian families with a systematic review of 40 publications to describe the phenotype of BRCA-Lynch syndrome (BRCA-LS) MINAS. The analysis included 92 patients from 69 families.
Pseudodominant inheritance in paraplegin (SPG7)-associated CPEO-ataxia syndrome.
A 47-year-old man presented with progressive external ophthalmoplegia, ptosis, gait disturbance and spasticity. Over ten years, he developed slowly progressive spastic ataxia with ocular motor involvement and neurogenic…
Can neurodevelopmental disorders be part of brain-lung-thyroid syndrome? A case report.
A 12-year-old girl with an NKX2-1 gene mutation was reported to have an articulation disorder and a specific learning disorder.
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