Trending archive
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671 articles
October 202624
Brain-Derived Neurotrophic Factor Val66Met Polymorphism and Cognitive Outcome after Stroke: A Systematic Review.
This systematic review examined the association between the BDNF Val66Met polymorphism and cognitive outcomes in 2,494 adults post-stroke.
Metabolomic biomarkers and metabolic remodelling in genetically characterised hypertrophic cardiomyopathy: a systematic review.
This systematic review examined metabolomic evidence in 1511 participants with genetically characterised hypertrophic cardiomyopathy (HCM).
Androgen insensitivity syndrome: A case report.
A 29-year-old phenotypic female presented with primary amenorrhea and intermittent abdominal pain. Examination revealed normal breast development, sparse pubic hair, and female external genitalia.
Excellent response to high-dose Riboflavin in Brown-Vialetto-Van Laere syndrome: A case report.
A young Asian man presented with progressive bilateral hearing loss, dysphagia, limb weakness, and respiratory issues. Neurological examination revealed significant deficits, and genetic testing confirmed pathogenic…
Genetic evidence for associations between gastroesophageal reflux disease and site-specific extraesophageal cancers: A Mendelian randomization study.
This Mendelian randomization study investigated the relationship between genetically predicted gastroesophageal reflux disease (GERD) and 22 extraesophageal cancers using data from over 600,000 individuals.
Incidence, severity, and associated risk factors for amyloid-related imaging abnormalities in anti-amyloid monoclonal antibody therapy for early Alzheimer's disease: a systematic review and meta-analysis.
This systematic review and meta-analysis evaluated the incidence and risk factors for amyloid-related imaging abnormalities (ARIA) in 12,610 patients with early Alzheimer's disease receiving anti-amyloid monoclonal…
Short-chain enoyl-CoA hydratase deficiency: a systematic review of clinical spectrum, genotype-phenotype correlations and survival predictors.
This systematic review examined short-chain enoyl-CoA hydratase 1 (SCEH) deficiency in 165 patients with confirmed ECHS1 variants.
Hereditary Neuropathies.
This article describes the clinical features, genetic causes, and diagnostic strategies of inherited peripheral neuropathies, and highlights how recent developments are reshaping the management of these disorders.
Genotype-Phenotype Relationships in Patients Carrying Biallelic FDXR Pathogenic Variants-New Cases and Systematic Review.
Biallelic pathogenic FDXR variations were identified in 2017 as being responsible for sensorial neuropathies. The first reported patients suffered from auditory and optic sensorineural impairments (ANOA, MIM #617717).
A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review.
A 7-year-11-month-old Chinese girl presented with short stature and advanced bone age; knee imaging also showed asymptomatic osteochondritis dissecans.
Hereditary Spastic Paraplegia Type 11: A Comprehensive Case Report.
An 18-year-old woman with no significant medical history presented with a 2-year history of progressive weakness and stiffness in both lower limbs, leading to difficulty in walking.
Hereditary TTP and Hemolytic Anemia in Newborns.
This case report discusses three siblings diagnosed with hereditary thrombotic thrombocytopenic purpura (hTTP) due to ADAMTS13 deficiency, presenting with severe jaundice at birth.
Alpha-catenin Mutation-associated Synchronous Follicular Thyroid Carcinoma and Papillary Thyroid Carcinoma With Numerous Adenomatoid Nodules.
A 59-year-old woman with a history of breast cancer was found to have a thyroid nodule during a chest CT. Subsequent biopsies revealed synchronous minimally invasive follicular thyroid carcinoma and classic papillary…
New Primary and Secondary Prevention Measures for Cutaneous Melanoma: A Systematic Review.
This systematic review evaluated recent evidence on primary and secondary prevention strategies for cutaneous melanoma, analyzing 24 studies.
Low-Dose Cytarabine Plus G-CSF Induction in Pediatric M2 Acute Myeloid Leukemia: A Multicenter Study.
This multicenter randomized controlled trial analyzed the efficacy and safety of low-dose chemotherapy (LDC) versus standard-dose chemotherapy (SDC) in 221 children with M2 acute myeloid leukemia.
Apheresis-Triggered Torsades De Pointes in Congenital Long QT Syndrome Type 2: Citrate-Related Arrhythmia Risk and Safe Modality Switching During Myasthenic Crisis.
A 44-year-old woman with congenital long QT syndrome Type 2 presented in myasthenic crisis due to anti-MuSK-positive myasthenia gravis.
Utilizing Machine Learning to Identify Multimodal Signatures for Patients Who Would Benefit from the Addition of Tremelimumab to Durvalumab and Chemotherapy (TRIDENT).
The TRIDENT analysis, a post hoc study of the POSEIDON trial, utilized machine learning to identify patients with metastatic non-small cell lung cancer (NSCLC) who may benefit from adding tremelimumab to durvalumab and…
Pediatric Spinal Cord Astrocytoma With Granular Cell-Like Morphology and KIAA1549::BRAF Fusion.
A pediatric patient presented with a spinal cord tumor exhibiting prominent granular cell-like features, complicating the initial diagnosis.
A Novel BORCS5 Loss-Of-Function Variant in a Patient With a Rare Neurodevelopmental Disorder.
The BORCS5 is an important and critical component of the BLOC-one-related complex (BORC), involved in kinesin-dependent anterograde lysosomal transport.
Identification of Variants in Two Families With Congenital Cataract by Whole Exome Sequencing.
Congenital cataract (CC) is an ophthalmic disorder diagnosed at birth or during early infancy, characterized by severe visual impairment and potential blindness.
A Novel De Novo MTM1 Insertion Frameshift Variant Causes X-Linked Myotubular Myopathy in a Chinese Female.
A 24-year-old woman presented with infantile hypotonia and progressive, asymmetric proximal weakness, including facial and ocular involvement.
Variants in CEP135 Cause Congenital Microcephaly and Primary Ciliary Dyskinesia.
Three children from two families presented with congenital microcephaly and chronic respiratory issues consistent with primary ciliary dyskinesia (PCD). Diagnostic testing revealed autosomal recessive variants in CEP135.
Tumor Profile, Clinical Features, and Outcomes in Individuals With Constitutional Trisomy 8: A Systematic Review of Case Reports and Case Series.
Constitutional trisomy 8 mosaicism (CT8M) is a rare chromosomal disorder with poorly characterized cancer risk. This systematic review aimed at summarizing reported cases of malignancy and associated clinical outcomes…
Mosaicism for Cohen-Gibson Syndrome in a Female Individual With Overgrowth and Neurodevelopmental Delay.
A 12-year-old girl presented with tall stature, dysmorphic features, developmental delay, and congenital anomalies. Genetic evaluation revealed a likely pathogenic mosaic variant in the EED gene, with varying allele…
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