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501 articles
October 202624
Clinical manifestations of Armfield syndrome in females with heterozygous FAM50A variants and skewed X-chromosome inactivation.
A Spanish female patient presented with macrocephaly, global developmental delay, and leukoencephalopathy. Whole-exome sequencing identified a novel de novo heterozygous FAM50A variant, c.905 A > T (p.His302Leu).
Intermittent Maple Syrup Urine Disease Presenting With Chronic Demyelinating Polyneuropathy: A Genetically Confirmed DBT-Related Case.
A female patient with intermittent maple syrup urine disease (MSUD), genetically confirmed by compound heterozygous pathogenic DBT variants, had recurrent ataxic episodes from early childhood.
Delayed diagnosis of MEN1 after kidney transplantation: unrecognized pre-transplant features and implications for clinical practice.
A 68-year-old man with end-stage renal disease underwent living-donor kidney transplantation and had persistent hypercalcemia afterward.
Successful treatment with BrECADD in a patient with Dubin-Johnson syndrome and classic Hodgkin lymphoma: a case report.
A 26-year-old man with advanced-stage classic Hodgkin lymphoma also had Dubin–Johnson syndrome (DJS) associated with a homozygous ABCC2 variant, c.2291G>A (p.Gly764Asp).
Unexpected finding of AA amyloidosis with novel genetic variants in the MEFV gene in patients undergoing kidney biopsy for proteinuria. A case series.
The report describes patients undergoing kidney biopsy for proteinuria in whom AA amyloidosis was identified, alongside MEFV gene variants.
Molecular-genetic mechanisms of cerebral arteriovenous malformations: A systematic review of germline, somatic and experimental evidence.
This systematic review synthesised human genetic, molecular, and experimental evidence on cerebral arteriovenous malformation (AVM) formation, clinical course, and potential therapeutic targets.
Clinically isolated hearing loss as a mild phenotype of PEX26-associated peroxisomal biogenesis disorder: A case report, literature review, and in silico analysis.
An Iranian man presented with bilateral sensorineural hearing loss (SNHL) and no other clinical manifestations at evaluation.
Inherited epidermal differentiation disorders (EDD) in pediatric patients from a single Italian referral Center.
A retrospective review at an Italian referral center described three children with congenital, clinically heterogeneous inherited epidermal differentiation disorders.
Co-occurrence of aortic dissection and polycystic kidney disease: a case report.
A 19-year-old Caucasian man with no known medical history collapsed during sexual intercourse and died. Post-mortem examination found hemopericardium and aortic dissection in association with polycystic kidney disease…
Primary intracranial sarcoma, DICER1-mutant: 5 cases highlighting variable clinical and molecular features.
The report describes five patients aged 6 to 40 years with primary intracranial sarcoma, DICER1-mutant, identified through methylation profiling and/or sequencing.
Child Neurology: Neonatal Management of Tyrosine Hydroxylase Deficiency: How Early Is Early Enough?
Two preterm neonates from unrelated families with a known family history of tyrosine hydroxylase deficiency were diagnosed early. Both began levodopa/carbidopa treatment during the neonatal period.
Meta-analysis of 990 EBV genomes identifies EBER2 SNP7048 and its interaction with HLA-A*11:01 driving nasopharyngeal carcinoma risk.
This meta-analysis examined whether EBV genetic variation and host genetics are associated with nasopharyngeal carcinoma (NPC) across endemic populations in Singapore, Hong Kong, and China’s Guangdong and Guangxi…
Neurosurgical manifestations and management of mucopolysaccharidoses: A systematic review.
This PRISMA-guided systematic review synthesized contemporary reports of neurosurgical manifestations and management across mucopolysaccharidosis (MPS) subtypes.
Phenotypic variability in Arboleda-Tham syndrome: a report of a polish patient with a pathogenic KAT6A variant.
A 6-year-old boy born to healthy parents had global developmental delay, with milestones reached substantially later than expected. Diagnostic evaluation began at 18 months.
Pacak-Zhuang syndrome with EPAS1 p.Pro531Leu somatic variant: one case report and literature review.
A 4-year-old girl presented with recurrent hypertension, polycythemia and renal hilar masses. Imaging, biochemical testing and genetic analysis of paraffin-embedded tissue confirmed Pacak-Zhuang syndrome with a somatic…
High-Resolution Ultrasound in the Evaluation of Median and Superficial Radial Nerve Involvement in Neurofibromatosis Type 1.
A 16-year-old girl with neurofibromatosis type 1 presented with hand pain and paresthesia. High-resolution ultrasound showed a hypervascular superficial neurofibroma, marked epineural thickening of the median nerve…
Delayed diagnosis of cerebrotendinous xanthomatosis with progressive neurological involvement: a case report.
A 34-year-old man with genetically confirmed cerebrotendinous xanthomatosis presented with progressive gait instability, dysarthria, dysphagia, and cognitive impairment.
An Integrated Approach to MSI-High Colorectal Cancer Therapy in a Young Patient: A Clinical Case.
A 16-year-old male underwent appendectomy for presumed appendicitis, but persistent postoperative bowel obstruction led to CT detection of a descending-colon tumor and emergency Hartmann’s procedure.
Gene-based association analysis of depression risk among European ancestry Parkinson's disease patients.
This gene-based association analysis and meta-analysis examined common and low-frequency genetic variants related to depression among European-ancestry patients with Parkinson’s disease (PD) in three population-based…
Co-existence of CLCN1 and DNM2 variants in a phenotype overlapping myotonia and myopathy.
An Iranian family was evaluated for a phenotype combining severe myotonia and myopathic features. The index patient had clinical and electrical myotonia, with myopathic changes on electromyography.
Genetic correlates of corticobasal degeneration: a systematic review and meta-analysis.
This PRISMA-guided systematic review and meta-analysis synthesized genetic association studies of corticobasal degeneration (CBD), including 22 studies published between 2001 and 2025.
Local ancestry-aware genome-wide meta-analysis uncovers novel genetic loci for sickle cell disease nephropathy.
This local ancestry-aware genome-wide association meta-analysis examined estimated glomerular filtration rate in participants from two well-characterized adult sickle cell disease cohorts, seeking genetic loci…
Approach to the patient with APS-1/APECED.
This article presents five cases of autoimmune polyendocrine syndrome type 1 (APS-1/APECED), a disorder caused by impaired immune tolerance and typically associated with biallelic AIRE variants.
The extra X chromosome and autoimmune susceptibility in Klinefelter syndrome.
This systematic review and meta-analysis assessed autoimmune susceptibility in people with Klinefelter syndrome (47,XXY), using studies of autoimmune disease and serological markers.
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