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671 articles
August 202624
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.
Expanding the clinical and molecular spectrum of SETD5, NEDD4L, and TBL1X related disorders: A case report and literature review.
A male child presented with a complex phenotype including intellectual disability, seizures, periventricular nodular heterotopia (PVNH), congenital central hypothyroidism, and multiorgan malformations.
Identification of a novel likely pathogenic MT-TS2 variant in a patient with mitochondrial myopathy, retinitis pigmentosa and sensorineural hearing loss.
A 55-year-old male with Kallmann syndrome, retinitis pigmentosa, and congenital sensorineural hearing loss presented with generalized weakness and imbalance.
Effect of the unreported COL5A2 variant c.2499 + 4_2499 + 5insTAA on RNA splicing: Insights from minigene assays.
Classical Ehlers-Danlos syndrome (cEDS), caused by pathogenic variants in COL5A2, is characterized by skin hyperextensibility, joint hypermobility and atrophic scarring.
A 4-year-old male presenting with frequent falls, clumsily rising from seated positions, but a normal creatine kinase.
A 4-year-9-month-old boy had progressive gait instability, frequent falls, mild coordination impairment, and difficulty rising.
The variant c.2766+3A>T in DPYD leads to exon 21 skipping and is associated with DPD deficiency and severe fluoropyrimidine toxicity.
A 50-year-old man with colorectal cancer developed life-threatening grade 3–4 toxicity while receiving adjuvant XELOX (oxaliplatin and capecitabine). Routine DPYD genotyping found no pathogenic variants.
Metabolic mimic of inherited bone marrow failure: LMBRD1 (cblF) deficiency in an infant.
An eight-month-old boy presented with macrocytic anemia, reticulocytopenia, neutropenia, infections, failure to thrive, and developmental delay.
Functional Clopidogrel Resistance and CYP2C19 Genetic Determinants After Lower Limb Endovascular Intervention: A Systematic Review and Meta-analysis of Clinically Relevant Outcomes.
This systematic review and meta-analysis examined whether functional clopidogrel resistance, measured as high on-treatment platelet reactivity (HTPR), and CYP2C19 genetic determinants were associated with outcomes after…
Dental phenotypes associated with novel PHEX variants in X-linked hypophosphatemia.
Two unrelated patients with X-linked hypophosphatemia (XLH) were evaluated for dental phenotypes associated with novel PHEX variants.
Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.
Two unrelated Japanese individuals presented with global developmental delay, hypotonia, midface hypoplasia, thin upper lip, elongated facial shape, and reduced cerebral white matter volume.
Peroxisomal disorder associated with ACOX1 gain-of-function mimicking neuroinflammatory disease.
A 6-year-old girl presented with motor delay, ichthyosiform eczema, gait disturbance, pain, weakness, areflexia, hypomimia, and hearing loss.
TGFBI p.H626R Mutation in a Chinese Family with Lattice Corneal Dystrophy: A Short Report and Literature Review.
A three-generation Chinese family with lattice corneal dystrophy underwent ophthalmic assessment and genetic testing. Sequencing identified a heterozygous TGFBI c.1877A>G (p.His626Arg) mutation in affected family…
Comparative Effectiveness of Pharmacogenomics for Treatment of Depression.
This randomized controlled trial evaluated the effectiveness of pharmacogenomics-guided treatment (PGx+GIT) versus guideline-informed treatment (GIT) alone in 201 individuals with major depressive disorder.
A Rare BCR::SPECC1L::ABL1 Fusion in a Pediatric Chronic Myeloid Leukemia Patient.
An 8-year-old girl diagnosed with chronic myeloid leukemia (CML) presented with a typical Philadelphia chromosome and BCR::ABL1 fusion identified through karyotyping and FISH.
Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.
Three male patients with pathogenic variants in the PORCN gene were identified through exome sequencing. One patient exhibited features of focal dermal hypoplasia (FDH) due to a mosaic de novo variant, while two…
Pharmacogenetic hypersensitivity to somatropin in a child with severe growth hormone deficiency and MC4R p.V166I variant.
A boy with multiple pituitary hormone deficiencies and severe growth hormone deficiency began somatropin at 57 months of age, when his height and growth velocity were low. He carried a heterozygous MC4R p.V166I variant.
Barth Syndrome and Referral to Heart Transplantation: Single-Center Experience and Literature Review.
This report discusses three pediatric patients with genetically confirmed Barth syndrome who were referred for heart transplantation evaluation.
Safety and immunogenicity of one or two doses of the rVSVΔG-ZEBOV-GP Ebola virus vaccine in adults and adolescents living with HIV: a phase 2, multicentre, double-blind, randomised, placebo-controlled trial.
This phase 2, multicentre, double-blind, randomised, placebo-controlled trial evaluated the safety and immunogenicity of the rVSVΔG-ZEBOV-GP Ebola vaccine in 251 adults and adolescents living with HIV.
Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1 -Related Noonan Syndrome.
Two unrelated female pediatric patients were evaluated for LZTR1-related Noonan syndrome. The first patient exhibited isolated short stature and subtle dysmorphic features, with a confirmed heterozygous pathogenic…
Developmental Dysplasia of the Hip in Saudi Arabia and the Gulf Countries: A Genetic Systematic Review Study .
This systematic review examined genetic determinants of developmental dysplasia of the hip (DDH) in Saudi Arabia and Gulf countries.
A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.
Neuromuscular oculoauditory syndrome (NMOAS; OMIM# 618733) is a rare neurodevelopmental disorder caused by heterozygous variants in DHX16, a gene in the DExD/H-box RNA helicase family.
Severe atopic dermatitis and growth failure associated with a STAT5B gene mutation in a 7-month-old infant.
A 7-month-old boy with no significant perinatal history was referred for a skin condition present for 5 months and severe growth retardation, including low weight for height.
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