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671 articles
September 202612
Late-Onset Tay-Sachs Disease With SMALED-Like Muscle MRI Pattern Despite a Distinct Clinical Phenotype.
Two female patients in their second decade presented with slowly progressive, lower limb-predominant flaccid weakness and tremor.
Boy in the Barrel: Excruciating Paroxysmal Pain Disorder Associated With an SCN9A Gain-of-Function Variant.
A young man presented with severe childhood-onset paroxysmal pain triggered by heat, alongside autonomic dysfunction and skeletal abnormalities.
Enamel pits and enamel developmental defects in tuberous sclerosis complex: A descriptive synthesis and pooled prevalence analysis.
This systematic review analyzed enamel pits and developmental defects in patients with tuberous sclerosis complex (TSC), synthesizing data from seven studies involving 217 patients.
The Clinical Application of Refined Risk Estimates Study in BRCA1 and BRCA2 Pathogenic Variant Carriers: A Randomized Controlled Trial.
This randomized controlled trial evaluated the impact of genotype-informed personalized cancer risk estimates (GRE) versus standard lifetime cancer risk estimates (SRE) on decisional conflict in women with BRCA1/BRCA2…
De Novo MFN2 p.Arg95Met in Severe Charcot-Marie-Tooth Disease Type 2A.
A 30-year-old Taiwanese woman presented with severe axonal sensorimotor neuropathy, characterized by early-onset weakness, distal wasting, optic atrophy, and bilateral sensorineural hearing loss.
The Epidemiology of PRSS1 Hereditary Pancreatitis and Its Clinical Implications: A Systematic Review.
This systematic review examined the epidemiology and clinical implications of PRSS1 hereditary pancreatitis (HP) across 68 studies.
Safety and efficacy of elexacaftor/tezacaftor/ivacaftor in adolescents and adults with cystic fibrosis and F508del-gating and F508del-residual function genotypes: results from an open-label extension study.
This phase 3 open-label extension study evaluated the long-term safety and efficacy of elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) in 251 adolescents and adults with cystic fibrosis and F508del-gating or…
Tandem Double Inversion Resolves the Structural Paradox Underlying Recurrent KAT6A::NCOA2 Fusion in Acute Myeloid Leukemia.
A case of acute myeloid leukemia (AML) presented with the rare KAT6A::NCOA2 fusion, typically associated with inv(8)(p11q13). Genomic profiling revealed an unexpected MTFR1::KAT6A rearrangement.
Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.
Phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG) is a rare, autosomal recessive disease caused by PMM2 deficiency, which impairs conversion of mannose-6-phosphate into mannose-1-phosphate (M1P) and…
Analysis of Genetic Factors in a Family With Short Stature.
To elucidate the genetic underpinnings of short stature in a familial cohort of five individuals.
Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.
Two unrelated individuals, a 5-year-old girl and an adult woman, were diagnosed with Silver-Russell syndrome (SRS) and found to have de novo missense variants in IGF2.
FGF14 (GAA) repeat expansion-associated Ataxia (SCA27B): Expanding the clinical and diagnostic spectrum from the first genetically confirmed case in Argentina.
An Argentinean patient with late-onset ataxia was initially diagnosed with alcoholic cerebellar degeneration. Genetic testing identified an FGF14 GAA repeat expansion, confirming spinocerebellar ataxia 27B (SCA27B).
August 202612
Treatment of multiple sclerosis with peptide-coupled red blood cells induces antigen-specific T regulatory cells.
This phase Ib clinical trial evaluated the safety and efficacy of peptide-coupled red blood cells (pcRBCs) in patients with multiple sclerosis (MS).
Calcitonin-negative medullary thyroid carcinoma in a young adult.
A young woman in her early 20s presented with a thyroid nodule and normal serum calcitonin levels, which typically indicate the absence of medullary thyroid carcinoma (MTC).
A novel FLNA p.Pro2469Ser variant is associated with impaired T and NK cell function and immune dysregulation.
FLNA encodes filamin A, a ubiquitously expressed actin-binding cytoskeletal protein that cross-links actin filaments and links them to membrane-associated signaling complexes.
Hereditary neurodegenerative disorders with spastic-ataxic manifestations: genetic and clinical insights into previously reported variants.
Hereditary neurodegenerative disorders comprise a heterogeneous group of genetic conditions that affect the central and/or peripheral nervous system, often presenting with hallmark clinical features including ataxia…
The recurrent SACS gene p.Arg272His hotspot expands the neurodevelopmental and cognitive spectrum of ARSACS.
A 16-year-old Sicilian girl, born to consanguineous parents, presented with the classical symptoms of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), including progressive cerebellar ataxia…
Clinical features, genetic analysis, and efficacy evaluation of hematopoietic stem cell transplantation in a case of osteopetrosis caused by compound heterozygous variations in the TNFRSF11A gene: a case study.
A three-year-old Chinese girl with osteopetrosis presented with recurrent fractures, short stature, and macrocephaly. Radiological findings showed elevated bone mineral density and constricted medullary spaces.
Digital Acro-osteolysis Revealing Hajdu-Cheney Syndrome in an Elderly Patient: A Case Report.
An 85-year-old woman presented with infectious dactylitis of the right third finger. Radiographic examination revealed distal osteolysis in multiple digits.
From Pustules to Pruritus: A Novel IL36RN Frameshift Variant Reveals a Triple Biologic Paradox and a Th17-To-Th2 Phenotypic Transition.
A 64-year-old woman with longstanding psoriasis vulgaris, asthma, allergic rhinitis, and a family history of atopy developed generalized pustular psoriasis after biologic treatment.
Voretigene Neparvovec (Luxturna) for Biallelic RPE65-Associated Retinal Dystrophy: Systematic Review.
This systematic review synthesized randomized and observational studies of voretigene neparvovec in people with biallelic RPE65-associated inherited retinal disorders.
VEXAS Syndrome：Report of One Case.
An elderly male presented with fatigue and fever, later developing macrocytic anemia, tracheal and bronchial wall thickening, polyarthritis, rashes, and elevated inflammatory markers.
A single-cell meta-analysis evidences transposable element dysregulation in sex-based differences in Parkinson's disease.
This meta-analysis examined transposable element (TE) expression in Parkinson's disease (PD) using single-nucleus RNA-seq data from 66 donors.
Safety and lipoprotein(a)-lowering effects of Kylo-11, a non-canonical, long-duration small interfering RNA targeting lipoprotein(a): a first-in-human, randomised, double-blind, placebo-controlled, phase 1 trial.
This phase 1, randomized, double-blind, placebo-controlled trial evaluated the safety and lipoprotein(a)-lowering effects of Kylo-11 in 71 healthy adults aged 18-55 with elevated lipoprotein(a).
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