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512 articles
September 202624
Clinical and Genomic Insights into the Allodiploid Hybrid Pathogen Aspergillus latus: A Retrospective Case Series.
This case series describes five patients with infections caused by Aspergillus latus, identified through metagenomic next-generation sequencing (mNGS).
Chronic hypophosphatemia leading to the diagnosis of autosomal recessive hypophosphatemic rickets type 2 caused by a novel pathogenic variant in ENPP1.
Two brothers in their late 40s presented with chronic hypophosphatemia and elevated serum parathyroid hormone (PTH) levels.
Recognizing genetic association between Lhermitte-Duclos Disease and Autism Spectrum Disorder in PTEN-related patients: a case report and literature comprehension.
A mother diagnosed with Lhermitte-Duclos disease (LDD) associated with PTEN Hamartoma Tumor Syndrome (PHTS) presented alongside her 14-year-old daughter, who was diagnosed with autism spectrum disorder (ASD).
Identification of a new, likely pathogenic, heterozygous ABCB4 variant causing low phospholipid-associated cholelithiasis.
A late adolescent boy presented with recurrent biliary symptoms after cholecystectomy, alongside elevated cholestatic liver enzymes and a family history of hepatobiliary disease.
Previously unreported pathogenic variant in FOXC1 causing Axenfeld-Rieger syndrome with significant ocular anterior segment dysgenesis.
A patient presented with Axenfeld-Rieger syndrome, exhibiting significant ocular anterior segment dysgenesis. Genetic testing revealed heterozygosity for a previously unreported pathogenic variant in the FOXC1 gene.
Complex cardiac and porcelain aorta surgery in patients with untreated familial hypercholesterolaemia: a case report.
A 28-year-old man with untreated familial hypercholesterolaemia and diabetes presented with a non-ST-elevation myocardial infarction.
Unraveling the Clinical Spectrum of DNASE1L3 Deficiency: Insights from Case Series and Systematic Literature Review.
This case series examined four children with genetically confirmed biallelic DNASE1L3 variants, revealing a diverse clinical spectrum of immune-mediated diseases.
Reversible exacerbation of parkinsonism during epirubicin-cyclophosphamide chemotherapy in a patient with PTEN hamartoma tumor syndrome and young-onset Parkinson's disease.
A patient with a germline PTEN variant and young-onset Parkinson's disease developed severe exacerbations of parkinsonism during epirubicin-cyclophosphamide chemotherapy for bilateral breast cancer.
DPYD c.85 T > C, DPYD c.496 A>G, and DPYD c.2194 G>A and severe toxicity to fluoropyrimidines in PREPARE and Alpe-DPD trials. An original study and meta-analysis.
This meta-analysis evaluated the impact of DPYD variants on severe toxicity from fluoropyrimidines in 17,485 patients across multiple studies, including the PREPARE and Alpe-DPD trials.
Clinical and genetic analysis of a family with 16p11.2 microduplication syndrome and variable multisystem manifestations.
A multigenerational family was studied for 16p11.2 microduplication syndrome, with the proband presenting symptoms including limb muscle pain, exercise intolerance, and chronic gastrointestinal issues.
Lipidomic profiles and their relationship to incident diabetic retinopathy in type 2 diabetes: The Fremantle Diabetes Study Phase II.
This exploratory longitudinal study examined whether baseline plasma lipid profiles predicted diabetic retinopathy (DR) in 762 adults with type 2 diabetes.
Novel SLC6A9 variants in an adult presenting with GlyT1 encephalopathy.
A 27-year-old man with GlyT1 encephalopathy was found to carry two novel compound-heterozygous SLC6A9 variants. His features included neonatal hypotonia followed by hypertonicity, respiratory failure, exaggerated…
Delayed Diagnosis of Type 1 Gaucher Disease at Age 15 After Years of Mild Cytopenias and Splenomegaly: A Case Report and Long-Term Follow-Up.
A 15-year-old male with a history of mild splenomegaly and cytopenias since infancy was diagnosed with Type 1 Gaucher Disease after developing severe skeletal pain and fever.
Genetic basis of pancreatic steatosis: a systematic review of comparison between African and non-African populations.
This systematic review examined genetic factors associated with pancreatic steatosis in African versus non-African populations, analyzing data from over 120,000 participants.
Growth hormone deficiency: craniofacial characteristics and changes after growth hormone therapy - a systematic review.
This systematic review examined craniofacial characteristics in children and adolescents with non-syndromic growth hormone deficiency (GHD) and the effects of growth hormone therapy (GHT).
Expansion of the allelic and phenotypic spectrum of MED25-related developmental disorder: novel compound heterozygous variants with structural domain implications.
MED25-related developmental disorder (Basel-Vanagaite-Smirin-Yosef syndrome) is a rare autosomal recessive disorder, defined by severe neurodevelopmental delay, corpus callosum abnormalities, ocular involvement…
MNV-aware molecular characterization of a rare homozygous TTPA complex allele in ataxia with vitamin E deficiency.
A 34-year-old woman presented with childhood-onset progressive ataxia, diagnosed as ataxia with vitamin E deficiency due to a homozygous TTPA complex allele.
First Cornelia de Lange Syndrome Type 4 Caused by the Gonadal Mosaicism of RAD21 Deletion.
This report describes two siblings from a Chinese family diagnosed with Cornelia de Lange syndrome Type 4, characterized by dysmorphic facial features, cleft palate, spina bifida occulta, and limb abnormalities.
A familial case of FLAD1 protein deficiency associated with impaired adrenal steroidogenesis.
This report details two siblings with compound heterozygous mutations in the FLAD1 gene, resulting in adrenal insufficiency, a previously unreported association.
Clinical and immunological characterization of a child with a homozygous TBK1 kinase-domain truncation.
TBK1 is a serine-tyrosine kinase protein that transmits signals from pattern recognition receptors to the NF-κB pathway leading to production of Type 1 Interferons.
Prion disease mimicking rapidly progressive Alzheimer disease: case series and systematic review.
Prion disease and Alzheimer disease (AD) are common causes of rapidly progressive dementia (RPD). Although most patients with prion disease are distinguished by MRI and CSF findings, selected cases mimic rapidly…
Dysmorphic child with cone-shaped epiphyses: a diagnostic approach and novel trichorhinophalangeal syndrome gene variant.
A teenage girl presented with clinical and radiological features consistent with trichorhinophalangeal syndrome type I, characterized by short, deformed fingers and cone-shaped epiphyses.
Meckel-Gruber syndrome: a rare and fatal congenital disorder (case report).
A 40-year-old woman, gravida 2 para 1, presented with a fetus diagnosed with Meckel-Gruber syndrome, identified through prenatal ultrasound and MRI.
Delayed diagnosis and genetic testing in spinal muscular atrophy: a case series.
This case series presents five patients with spinal muscular atrophy (SMA) who experienced significant delays in diagnosis.
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