Trending archive
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512 articles
October 202624
Early-onset VEXAS syndrome mimicking orbital cellulitis and successfully treated with allogeneic hematopoietic stem cell transplantation.
A 25-year-old male presented with recurrent fever, weight loss, arthralgia, and symptoms resembling orbital cellulitis. Imaging revealed orbital soft tissue inflammation, while laboratory tests showed macrocytic anemia…
Genome-wide meta-analysis dissects the genetic basis and health implications of circulating taurine.
This genome-wide meta-analysis examined the genetic basis of circulating taurine levels in 36,490 European individuals. The study identified six common and two rare genetic loci associated with taurine levels and…
Uveitis despite adalimumab therapy in Blau syndrome.
A middle childhood boy initially diagnosed with oligoarticular juvenile idiopathic arthritis presented with persistent arthritis, recurrent fever, and skin lesions.
Multisystem imaging findings as diagnostic red herrings in Wilson's disease.
A previously healthy man in his 20s presented with fever, cough, jaundice, and a right-sided pleural effusion. Initial tests revealed significant hepatic dysfunction, and imaging showed cirrhotic liver morphology…
Coarctation of the aorta as the presenting cardiovascular manifestation of Williams syndrome in an infant.
A male infant presented for pre-operative evaluation of a left inguinal hernia, during which discrete juxtaductal coarctation of the aorta was incidentally found.
PHOENIX: a study protocol for a pilot randomised controlled trial of pre-emptive pharmacogenomic panel testing in acute care settings with health economic evaluations.
The PHOENIX trial is a pilot randomized controlled trial assessing the impact of pre-emptive pharmacogenomic panel testing on adverse drug reactions (ADRs) and treatment failures in acute care settings.
Familial hypomagnesemia with secondary hypocalcemia: a novel TRPM6 mutation associated with treatment-resistant migraine in a North African family.
An 18-year-old woman from a consanguineous Moroccan family presented with lifelong hypomagnesemia and a severe migraine attack accompanied by paresthesias and muscle cramps.
A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of care.
This nationwide prospective randomized trial evaluated the diagnostic efficacy of genome sequencing (GS) compared to standard of care (SoC) in 567 individuals with unexplained developmental disorders (DD).
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).
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…
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