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Clinical phenotype of FASTKD2 mutation
Ritesh Shah, Seema BalasubramaniamJournal of Pediatric Neurosciences 2021 16(4):319-322Mitochondrial disorders (MIDs) are frequently multisystemic in nature and cause significant morbidity and mortality. Accurate assessment of mitochondrial disease prevalence has been difficult in the past. Primary MIDs are due to mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA)-located genes. Here we report cases of two siblings who presented to the pediatric emergency department with status epilepticus. Initially, the elder sibling was treated for metabolic encephalopathy and viral encephalitis, during his admission to the ho...
Source: Journal of Pediatric Neurosciences - November 1, 2022 Category: Neuroscience Authors: Ritesh Shah Seema Balasubramaniam Source Type: research

Clinical and radiological aspects of bilateral temporal abnormalities: pictorial essay
Abstract The temporal lobes are vulnerable to several diseases, including infectious, immune-mediated, degenerative, vascular, metabolic, and neoplastic processes. Therefore, lesions in the temporal lobes can pose a diagnostic challenge for the radiologist. The temporal lobes are connected by structures such as the anterior commissure, corpus callosum, and hippocampal commissure. That interconnectedness favors bilateral involvement in various clinical contexts. This pictorial essay is based on a retrospective analysis of case files from a tertiary university hospital and aims to illustrate some of the conditions that simul...
Source: Radiologia Brasileira - March 26, 2021 Category: Radiology Source Type: research

Mild Encephalitis/Encephalopathy with a Reversible Splenial Lesion in an Adult with Cerebellar Ataxia: A Case Report.
Abstract Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is a clinicoradiological syndrome characterized by transient mild encephalopathy and magnetic resonance imaging (MRI) findings of a reversible lesion in the splenium of the corpus callosum (SCC). Patients with MERS generally present with central nervous system symptoms such as consciousness disturbance, headache, and seizure; adult-onset MERS with cerebellar ataxia is rare. A 53-year-old man was admitted to our hospital with fever of 1 week's duration, headache, neck stiffness, and gait disturbance. Neurological examination revealed...
Source: Journal of Nippon Medical School - July 15, 2020 Category: Universities & Medical Training Authors: Nakajima M, Suda S, Kimura K Tags: J Nippon Med Sch Source Type: research

What Genetics are Associated with Multiple Sclerosis?
Discussion Multiple sclerosis (MS) is “a chronic degenerative, often episodic disease of the central nervous system marked by patchy destruction of the myelin that surrounds and insulates nerve fibers, usually appearing in young adulthood and manifested by one or more mild to severe neural and muscular impairments, as spastic weakness in one or more limbs, local sensory losses, bladder dysfunction, or visual disturbances.” It is a chronic disease and therefore symptoms must occur more than once. The first episode is called an acute demyelinating attack. Fifteen to forty-five percent of children with their first...
Source: PediatricEducation.org - April 4, 2016 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news