Trending archive
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1687 articles
October 202624
Endoscopic third ventriculostomy for diencephalosynapsis-related hydrocephalus in MPDZ gene syndrome: a case report and review of the literature.
A female infant with prenatally diagnosed obstructive ventriculomegaly was confirmed to have MPDZ syndrome through whole-exome sequencing.
Concurrent presentation of distinct extranodal and splenic marginal zone lymphomas.
A patient was diagnosed with both extranodal marginal zone lymphoma (EMZL) of the ocular adnexa and splenic marginal zone lymphoma (SMZL).
Maternal and fetal outcomes of spinal tuberculosis in pregnancy: A systematic review and descriptive pooled analysis.
Spinal tuberculosis (TB) in pregnancy is rare and poses diagnostic, neurological, and obstetric challenges. Data are limited to isolated case reports and small series, precluding evidence-based guidance on management…
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.
A Rare Case of Nodular Fasciitis of the Hard Palate with Complete Clinical Resolution.
A 24-year-old female presented with a rapidly enlarging, pedunculated mass on the hard palate, initially diagnosed as a pyogenic granuloma.
Thyrotoxicosis-Associated Cholestatic Jaundice in a Patient With Incidental Gallstone Disease: A Case Report and Literature Review.
A 62-year-old woman presented with right upper quadrant pain, weight loss, and jaundice. Laboratory tests indicated cholestatic liver injury, and imaging revealed a solitary gallstone and signs of right-sided heart…
Type II RAF Inhibitor Tovorafenib in Recurrent/Refractory Melanoma or Other Solid Tumors With BRAF Fusions or CRAF/RAF1 Fusions or Amplification: Phase II FIRELIGHT-1 Substudy.
This Phase II clinical trial evaluated the efficacy and safety of tovorafenib in 23 patients with recurrent/refractory solid tumors harboring BRAF or CRAF fusions/amplifications.
Tumor-Free Circulating Tumor DNA in Node-Negative Rectal Cancers Undergoing Neoadjuvant Chemotherapy, Excision, and Observation in the Phase II NEO Trial (CO.28).
The Phase II NEO trial investigated the role of circulating tumor DNA (ctDNA) in guiding treatment decisions for 53 patients with node-negative rectal cancer undergoing neoadjuvant chemotherapy and transanal excision.
Small Fiber Neuropathy.
Small fiber neuropathy is a common disorder; however, its diagnosis and treatment can be challenging. This article outlines the pain pathways involved in small fiber neuropathy and provides an overview of its various…
Amyloid Neuropathies.
This article reviews the pathophysiology, epidemiology, and clinical features of amyloid neuropathies, with a focus on light chain (AL) amyloidosis and hereditary amyloidogenic transthyretin (ATTRv) amyloidosis, and…
Wellness and Career Sustainability in Neurology.
This article reviews drivers of well-being in neurology, using the practice of neuromuscular neurology as an example and high-yield interventions to enhance professional fulfillment.
Diagnostic Approach to Neuropathy.
This article provides an updated overview of polyneuropathy, emphasizing the significance of accurate diagnosis and the evolving understanding of its underlying causes and pathophysiology.
Guillain-Barré Syndrome.
This article reviews the epidemiology, clinical symptoms, examination findings, pathogenesis, diagnostic criteria, and recent guidelines of Guillain-Barré syndrome (GBS) and its variants, including information on…
Amyotrophic Lateral Sclerosis.
This article describes the nerve loss underlying amyotrophic lateral sclerosis, its clinical manifestations, examination findings leading to the diagnosis, the expanding role of genetics, and available treatment and…
Nutritional and Toxic Neuropathies.
This article reviews the etiologies, clinical presentations, and management of nutritional and toxic neuropathies.
Diabetic Neuropathies.
This article provides an update on the biological mechanisms and risk factors for the varied manifestations of diabetes-associated nerve injury, and reviews current diagnostic and treatment approaches.
Chronic Inflammatory Demyelinating Polyradiculoneuropathy.
This article describes the cardinal clinical, electrophysiologic, and supportive features of typical CIDP and its variants, how to review and apply CIDP diagnostic criteria, objective measures that can be used in…
Inflammatory and Autoimmune Axonal Neuropathies.
This article outlines the clinical patterns, diagnostic strategies, and treatment principles for patients with inflammatory and autoimmune axonal neuropathies.
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.
Paraproteinemic Neuropathies.
Paraproteinemic neuropathies present with a myriad of phenotypes and associated underlying plasma cell dyscrasias. This article provides a phenotype-driven approach to the evaluation of paraproteinemic neuropathies…
Spinal Muscular Atrophy.
This article reviews the history, epidemiology, genetics, clinical presentation, multidisciplinary management, and established and emerging therapies for patients with spinal muscular atrophy.
A Randomized Controlled Trial of a Digital Stepped-Care Program to Reduce Anxiety and Depressive Symptoms Among Long-Term Care Workers With Psychological Distress: The REPICAL Study.
The REPICAL study evaluated a digital stepped-care program aimed at reducing anxiety and depressive symptoms among long-term care workers (LTCWs) in Catalonia, Spain.
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).
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