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512 articles
September 202624
Downbeat nystagmus without ataxia as an early manifestation of spinocerebellar ataxia, autosomal recessive type 10 (SCAR10): a case report.
A 23-year-old female with a history of migraine presented with a four-month history of progressive vestibular dizziness. Neurological examination revealed downbeat nystagmus without ataxia.
C12ORF54 mediates lipid droplet delivery to lysosomes with mutation causing childhood-onset metabolic dysfunction-associated steatotic liver disease.
A 2-year-old boy presented with metabolic dysfunction-associated steatotic liver disease (MASLD) and was found to have a homozygous missense variant in the C12ORF54 gene.
Cognitive impairment as a manifestation of SPG7: case report.
A 42-year-old man with a 10-year history of dysarthria and 5 years of gait difficulties presented with cognitive symptoms over the last 3 years.
Mycobacterial infections and recurrent osteomyelitis in a patient with an autosomal dominant mutation in IFN-gamma receptor 1 with overexpression of the receptor.
A Mexican man developed severe BCGitis in early childhood, followed by recurrent disseminated mycobacterial infections and vertebral osteomyelitis involving several species.
Case report: Tirzepatide-responsive refractory diabetes mellitus in an adult female with prader-willi syndrome.
A woman with Prader-Willi syndrome (PWS) presented with poorly controlled diabetes mellitus, characterized by severe insulin resistance and uncontrollable hyperphagia leading to morbid obesity.
A systematic review and network meta-analysis of single nucleotide polymorphisms associated with oral submucous fibrosis risk.
This systematic review and network meta-analysis evaluated the association between single nucleotide polymorphisms (SNPs) and the risk of oral submucous fibrosis (OSF) in a population of 2545 cases and 3772 controls.
Successful pregnancy after in vitro fertilization-embryo transfer in a patient with cytochrome P450 oxidoreductase deficiency and a double uterus: Case report.
A 29-year-old woman with a history of 7 years of infertility was diagnosed with cytochrome P450 oxidoreductase deficiency and uterus didelphys.
Progressive Axonal Neuropathy and Cerebellar Ataxia Associated with Homozygous Pathogenic POLG Mutation in a Patient of African Descent from Northern Minas Gerais/Jequitinhonha Valley, Brazil: A Case Report and Epidemiological Implications.
A 41-year-old man of African descent presented with progressive axonal sensorimotor neuropathy, cerebellar ataxia, dysarthria, and oculomotor abnormalities.
Non-convulsive status epilepticus revealing acute deterioration in AARS2 mutation-associated progressive leukoencephalopathy.
A 41-year-old woman with AARS2 mutation-associated leukoencephalopathy presented with rapid cognitive decline and altered mental status.
Expanding the TBL1XR1 Disease Spectrum: Generalized Dystonia Associated with a New Genetic Variant.
A 61-year-old man with a long-standing misdiagnosis of cerebral palsy presented with neurodevelopmental disorder, mild ataxia, and generalized dystonia.
Functional Validation of a Novel Homozygous TTN Splice-Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy.
A 42-year-old male with nonobstructive hypertrophic cardiomyopathy (HCM) and paroxysmal atrial arrhythmias underwent whole-exome sequencing, revealing a novel homozygous TTN splice-site variant.
Clinical and molecular spectrum of VEXAS with multiple UBA1 variants: case study and literature review.
A patient with VEXAS syndrome presented with neck swelling, headache, elevated inflammatory markers, leukopenia, macrocytic anemia, and thrombocytopenia. Bone marrow analysis showed no dysplasia or increased blasts.
Systematic review of machine learning approaches for predicting sickle cell crisis and mortality risk at the climate-health nexus.
This systematic review analyzed 34 studies on machine learning models predicting sickle cell anemia (SCA) crises and mortality, focusing on climate-related factors.
Germline multigene panel testing for colorectal cancer: a systematic review and meta-analysis.
This systematic review and random-effects meta-analysis assessed germline multigene panel testing in unselected patients with colorectal cancer, pooling evidence from 21 eligible studies.
Immunogenicity and safety of prophylactic HPV vaccines in people living with HIV: A systematic review and meta-analysis.
This systematic review and meta-analysis evaluated the immunogenicity and safety of prophylactic HPV vaccines in people living with HIV (PLWH). The analysis included 12 studies with 1,493 participants for HPV16.
Potential contributors to variable penetrance of NOTCH3 p.Arg1231Cys Variant.
Two patients with the NOTCH3 p.Arg1231Cys variant presented with early-onset dementia, strokes, and extensive leukoencephalopathy.
Clinical characteristics of THAP1 related dystonia: a case report with phenotypic review.
A 58-year-old man presented with dysphagia and dysarthria at age 22, followed by progressive dystonic posturing affecting his upper limbs, face, neck, and lower limbs.
Hereditary connective tissue disorders in unselected patients with spontaneous cervical artery dissection: a targeted next generation sequencing approach and systematic review.
This study investigated the prevalence of clinically relevant genetic variants in 183 unselected patients with spontaneous cervical artery dissection (sCeAD) using targeted next-generation sequencing.
Distribution of CYP2C19 polymorphism and predicted metabolizer phenotypes in the Indian population: A systematic review.
This systematic review and meta-analysis examined the prevalence of CYP2C19 polymorphisms and predicted metabolizer phenotypes in the Indian population.
Unique Thyroid Carcinoma With Somatic Inactivating TSC2 Mutations, Follicular and Melanocytic Differentiation and Distinct Morphologic Features.
Thyroid carcinomas with mutations in the TSC2 gene have been described rarely. Here, we report a unique thyroid carcinoma that has somatic mutations in TSC2 , follicular and melanocytic differentiation and distinct…
Impact of Baseline Polyneuropathy Severity on Eplontersen Efficacy in the NEURO-TTRansform Clinical Trial.
This post hoc analysis of the NEURO-TTRansform trial evaluated the effect of baseline severity of hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) on the efficacy of eplontersen.
Genomic Profiling of Anophthalmia/Microphthalmia-Associated CNVs Reveals Complex Genotype-Phenotype Correlations and Incomplete Penetrance.
This case report discusses four families with anophthalmia/microphthalmia (A/M) and associated copy number variations (CNVs).
A Novel BRCA1 Pathogenic Variant in Tunisian Patient With High Grade Ovarian Cancer: Favorable Therapeutic Response to Olaparib.
A 50-year-old woman presented with severe anemia due to heavy menometrorrhagia. Initial evaluations were unremarkable, but exploratory laparotomy revealed a peritoneal nodule.
Nephrogenic Syndrome of Inappropriate Antidiuresis: Case Report and Genetic Perspectives.
A 3-year-old male presented with intermittent convulsions and chronic hyponatremia. Genetic testing revealed a de novo hemizygous variant in the AVPR2 gene, confirming nephrogenic syndrome of inappropriate antidiuresis…
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