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194 articles
October 202624
From Bench to Bedside: Evaluating the Accuracy of Clinical Sensory Testing in Detecting Somatosensory Disorders. A Systematic Review.
This systematic review assessed the diagnostic accuracy of clinical sensory tests (CSTs) for somatosensory disorders across populations and conditions, comparing test results with reference standards.
A novel PGAP1 splice-site variant expanding the clinical and molecular spectrum of GPI-anchor disorders.
A patient with neurodevelopmental impairment was found to carry a novel homozygous PGAP1 splice-site variant, NM_024989.4.1173 + 1G > A.
Clinical manifestations of Armfield syndrome in females with heterozygous FAM50A variants and skewed X-chromosome inactivation.
A Spanish female patient presented with macrocephaly, global developmental delay, and leukoencephalopathy. Whole-exome sequencing identified a novel de novo heterozygous FAM50A variant, c.905 A > T (p.His302Leu).
Disease trajectory in cerebral amyloid angiopathy: a matter of time.
A 75-year-old woman diagnosed with possible cerebral amyloid angiopathy (CAA) in 2016 had a spontaneous right prerolandic convexal subarachnoid hemorrhage and MRI evidence of small-vessel disease.
Mapping the prevalence of Epstein-Barr virus and multiple sclerosis in Middle East and North Africa: a systematic review and meta-analysis.
This systematic review and meta-analysis mapped published estimates of multiple sclerosis (MS) prevalence and Epstein-Barr virus (EBV) seroprevalence in Middle East and North Africa populations.
Copy number variants across the developmental epilepsy-developmental and epileptic encephalopathy spectrum: an Indonesian case series.
A retrospective series from a tertiary hospital in Yogyakarta described four Indonesian children with developmental epilepsy or developmental and epileptic encephalopathy and pathogenic copy number variants.
Intermittent Maple Syrup Urine Disease Presenting With Chronic Demyelinating Polyneuropathy: A Genetically Confirmed DBT-Related Case.
A female patient with intermittent maple syrup urine disease (MSUD), genetically confirmed by compound heterozygous pathogenic DBT variants, had recurrent ataxic episodes from early childhood.
The entorhinal cortex atrophy score for diagnostic distinction between phases of the Alzheimer's disease continuum.
This systematic review assessed the Entorhinal Cortex Atrophy (ERICA) visual score for distinguishing subjective cognitive decline (SCD), mild cognitive impairment (MCI), and Alzheimer’s disease (AD) dementia.
Feasibility of a Co-Designed Personalized Cognitive Reablement Program Delivered via Digital Voice Assistants for Older Adults Living With Early-Stage Dementia or Mild Cognitive Impairment: Pilot Randomized Controlled Trial.
This nonblinded pilot randomized controlled trial assessed the feasibility and potential effectiveness of VOICE-COG, a personalized cognitive reablement program delivered through digital voice assistants, in adults aged…
Lesion Water Content on CT Predicts 12-Month Outcome and Modifies Thrombectomy Effect in Large-Core Stroke-A Secondary Analysis of the TENSION Trial.
This secondary analysis of the randomized TENSION trial examined whether CT-derived net water uptake (NWU) predicts 12-month outcomes and modifies thrombectomy effects in 198 patients with large-core ischemic stroke.
Neuronal intermediate filament neurologic autoimmunity in a patient with Merkel cell carcinoma receiving pembrolizumab.
A 55-year-old woman with recurrent stage IIIA Merkel cell carcinoma developed vertigo, gait instability, dysarthria, and persistent right hemifacial and cervical spasms after her second pembrolizumab dose.
Protective effect of N-acetylcysteine on oxaliplatin-induced peripheral neuropathy in colorectal cancer: a randomized controlled trial.
This randomized controlled trial evaluated oral N-acetylcysteine (NAC) for preventing oxaliplatin-induced peripheral neuropathy in 46 patients with stage III or high-risk stage II colorectal cancer receiving adjuvant…
STN-SNr co-stimulation in Parkinson's disease: a systematic review and meta-analysis of motor and freezing-of-gait outcomes.
This systematic review and meta-analysis assessed whether adding substantia nigra pars reticulata stimulation to subthalamic nucleus deep brain stimulation improves motor function or freezing of gait in people with…
Spontaneous regression of post-traumatic syringomyelia: longitudinal mr imaging demonstrating a dynamic disease course.
A 69-year-old patient with post-traumatic cervicothoracic syringomyelia presented with occipital headaches, dizziness, and subjective upper-extremity weakness.
Agreement Between In-Person and Telephone Application of the Informant Questionnaire on Cognitive Decline in the Elderly.
This methodological study assessed agreement between in-person and telephone administration of the Informant Questionnaire on Cognitive Decline in the Elderly (IQCODE), completed by caregivers or family members of older…
Antidopaminergic Medications and Clinical Outcomes in Huntington Disease: Evidence From the PROOF-HD Placebo-Controlled Trial.
This post hoc analysis of the placebo arm of the randomized PROOF-HD trial examined associations between antidopaminergic medication (ADM) use and clinical outcomes in adults with Huntington disease.
Prediction of death by neurologic criteria in patients with non-traumatic acute brain injury: a systematic review and meta-analysis.
This systematic review and meta-analysis examined predictors of death by neurologic criteria (DNC) after non-traumatic acute brain injury.
Tuberculosis-Associated Longitudinally Extensive Transverse Myelitis.
A 51-year-old man with a year of chronic non-productive cough and about 20 days of fever and headache presented with encephalopathy but no focal neurological deficits.
Determining the minimal important difference of EQ-5D-5 L utility values in CIDP patients using data from a large clinical trial.
This analysis of data from the ADHERE randomized controlled trial estimated the minimal important difference (MID) in EQ-5D-5 L utility values for patients with chronic inflammatory demyelinating polyradiculoneuropathy…
Locus coeruleus abnormalities on neuromelanin-sensitive MRI in Parkinson's disease: a systematic review and meta-analysis.
This systematic review and meta-analysis assessed locus coeruleus (LC) integrity on neuromelanin-sensitive MRI in Parkinson’s disease (PD), pooling independent comparisons with healthy controls using random-effects…
Efficacy and Safety of Argatroban as an Adjunct to Antiplatelet Therapy in Ischemic Stroke: An Updated Systematic Review and Meta-analysis.
This systematic review and meta-analysis assessed argatroban added to antiplatelet therapy versus control in acute ischemic stroke.
Effects of transcranial direct current stimulation on nicotine use disorder: a systematic review and meta-analysis.
This systematic review and meta-analysis assessed transcranial direct current stimulation (tDCS) for smoking-related outcomes in people with nicotine use disorder.
Evaluating Improvement in Pain and Sensory Function When Using High-Frequency (10-kHz) Spinal Cord Stimulation in Individuals With Painful Diabetic Neuropathy: A Multicenter Randomized Controlled Trial (PDN-Sensory).
The multicenter randomized controlled PDN-Sensory trial evaluated 10-kHz spinal cord stimulation (SCS) plus conventional medical management (CMM) versus CMM alone in people with painful diabetic neuropathy.
Feasibility of a multidimensional interdisciplinary rehabilitation program for people with dementia and their informal primary caregivers - a randomized pilot trial with a caregiver focus.
This randomized pilot trial assessed the feasibility of a person-centred, interdisciplinary rehabilitation program for community-dwelling people with dementia that also provided education and support to informal…
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