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671 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).
The yield of artificial intelligence (GI genius) in Lynch syndrome -A randomized tandem-colonoscopy trial.
This single-centre randomized tandem-colonoscopy trial assessed whether artificial intelligence (AI) added polyp detection beyond high-definition white-light endoscopy (HD-WLE) in patients with Lynch syndrome.
Association between the rs2228570 polymorphism of the vitamin D receptor gene and serum vitamin D levels: A systematic review and meta-analysis.
This systematic review and meta-analysis examined whether the vitamin D receptor rs2228570 (FokI) polymorphism is associated with circulating 25(OH)D in healthy adults.
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.
Clinical heterogeneity and disease progression during adolescence in AGPAT2-associated congenital generalized lipodystrophy: a case series of four patients.
This case series followed four adolescents with genetically confirmed AGPAT2-associated congenital generalized lipodystrophy.
A Homozygous Variant in DMRTB1 Is Associated With Non-Obstructive Azoospermia in Humans.
A patient with non-obstructive azoospermia was found by whole-exome sequencing to carry a homozygous DMRTB1 variant, c.792-797del (p.265-266del).
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…
USP6-FISH Negative Nodular Fasciitis: Benign Impostor of the Orbit.
An 11-year-old boy had a painless, progressively enlarging periorbital mass initially thought to be a dermoid cyst. Ultrasound was reassuring, but MRI showed an enhancing lesion concerning for neoplasm, leading to…
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 Phase 3 Trial of Vosoritide in Children with Hypochondroplasia.
This phase 3, multicenter, randomized, placebo-controlled trial evaluated once-daily vosoritide in children aged 3 to less than 18 years with hypochondroplasia.
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