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512 articles
August 202624
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.
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).
Mitochondrial abnormalities in Charcot-Marie-Tooth disease: insights from a family harbouring a novel GDAP1 variant.
Charcot-Marie-Tooth disease is an inherited peripheral neuropathy marked by progressive loss of motor and sensory function.
Hearing Aid Benefit in Auditory Neuropathy Due to Friedreich Ataxia: A Case Report.
A 44-year-old woman with genetically confirmed Friedreich ataxia underwent assessment for hearing loss. Audiometry and electrophysiological testing supported auditory neuropathy spectrum disorder, with otoacoustic…
Exploring sex differences in endocannabinoid system biomarkers and their relationship with antidepressant treatment outcomes in major depressive disorder: a CAN-BIND 1 secondary analysis.
This randomized controlled trial investigated sex differences in endocannabinoid system (ECS) biomarkers and their relationship with antidepressant outcomes in 178 participants with major depressive disorder (MDD).
Genetic diversity of clinical Mycobacterium bovis BCG isolates from an immunocompromised patient with BCG infection.
The Bacillus Calmette-Guérin (BCG) vaccine is widely administered to prevent severe tuberculosis but can cause serious adverse events, including disseminated BCGosis, in immunocompromised individuals.
Clinicopathological characterisation of the first Australian family with the p.G51D SNCA mutation.
A family carrying the p.G51D SNCA mutation was identified through a community study of young-onset dementia. The proband developed parkinsonism at 38, followed by cognitive difficulties at 41 that progressed to dementia.
Pharmacokinetics of IL-23p19 Inhibitors: A Systematic Review Across Immune-Mediated Inflammatory Diseases.
This systematic review evaluated the pharmacokinetics of IL-23p19 inhibitors across various immune-mediated inflammatory diseases, including inflammatory bowel disease (IBD).
Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.
This case series involved seven children and fetuses with heterotaxy (HTX) from France and Vietnam, characterized by complex congenital heart defects and extracardiac abnormalities.
Beyond One Gene: a systematic review of layered evidence for antileishmanial resistance in Leishmania infantum.
This systematic review examined genetic evidence for antileishmanial resistance in Leishmania infantum, focusing on 29 studies.
A novel SEMA6B splice-site variant (c.1680-2A>G) causes incompletely penetrant epilepsy via diverse aberrant transcripts.
While truncating variants in the SEMA6B gene are an established cause of Progressive Myoclonus Epilepsy-1(EPM11), the pathogenic mechanisms of non-last-exon splicing variants, particularly those underlying the frequent…
Identification and characterisation of a novel homozygous KDM5A variant associated with severe axial hypotonia, seizures, and cardiac anomalies.
A patient with severe neurodevelopmental delay had neuromotor delay, profound axial hypotonia with absent head control, mild upper-limb spasticity, a history of seizures, facial dysmorphism and congenital heart disease.
Clinical features of four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32.
Four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32 (SCAR32) were identified among 411 ataxia cases negative for repeat expansion disorders.
A multi-centre study of belatacept and sirolimus for islet transplantation.
This phase II, multi-centre clinical trial evaluated the efficacy of belatacept and sirolimus (bela/siro) in islet transplantation for type 1 diabetes.
Three Generations of X-Linked Hypophosphataemia: The Inter-generational Impact of Burosumab Across the Lifespan.
This case report describes three generations of a family affected by X-linked hypophosphataemia (XLH), each receiving burosumab therapy at different life stages.
Twelve-Year Follow-up of a Family With CKD Caused by an mtDNA Variant.
Five siblings with unaffected parents presented with hyperuricemia and chronic kidney disease; the proband died of end-stage kidney disease at age 16.
68 Ga-FAPI-04 PET/CT Findings in Primary Hyperoxaluria Type 1.
A patient with primary hyperoxaluria type 1 presented with systemic oxalate deposition leading to end-stage renal disease. 68 Ga-FAPI-04 PET/CT imaging revealed significant FAPI uptake in various bones and joints…
Late gadolinium enhancement in mitochondrial myopathy: a systematic review and meta-analysis of cardiovascular magnetic resonance studies.
This systematic review and meta-analysis pooled observational studies of late gadolinium enhancement (LGE) on cardiovascular magnetic resonance in patients with mitochondrial myopathy.
Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification.
A child presented in early infancy with refractory seizures, severe hypotonia, left hemiplegia, profound developmental impairment, bilateral cataracts, and progressive intracranial calcification.
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