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Total 16 results found since Jan 2013.

Mitochondrial Myopathy in a 21-Year-Old Man Presenting With Bilateral Lower Extremity Weakness and Swelling
We report a case of a 21-year-old student who developed bilateral lower limb weakness, pain, and swelling diagnosed with mitochondrial myopathy on muscle biopsy. Initial laboratory tests revealed elevated creatinine kinase, brain natriuretic peptide, troponin, myoglobin, and lactic acid and reduced serum bicarbonate. Cardiac workup revealed systolic heart failure with a reduced ejection fraction. Endomyocardial biopsy revealed punctate foci of lymphocytic myocarditis. However, cardiac magnetic resonance imaging did not reveal either myocarditis or an infiltrative cardiac disease. An extensive autoimmune and infection work-...
Source: Primary Care - May 10, 2023 Category: Primary Care Authors: Kavya Bharathidasan Abbie Evans Fabiana Monte Alegre Olmos Fernandez Arunee Tansrisook Motes Kenneth Nugent Source Type: research

Distinct MR features in scleroderma associated myopathy
ConclusionsIntramuscular and fascial edema on MRI are more common in SSc-associated FM, while markers of chronic muscle damage are more often associated with NFM.
Source: La Radiologia Medica - January 4, 2021 Category: Radiology Source Type: research

First person - Stephanie Fernandes FIRST PERSON
ABSTRACT First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Stephanie Fernandes is first author on ‘Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy’, published in DMM. Stephanie conducted the research described in this article while a master's degree student in Mariz Vainzof's lab at the Human Genome and Stem-Cell Research Center, University of São Paulo, São Paulo, Brazil. She is now a PhD student in the...
Source: DMM Disease Models and Mechanisms - January 9, 2020 Category: Biomedical Science Tags: FIRST PERSON Source Type: research

First person - Celia Cordero-Sanchez FIRST PERSON
ABSTRACT First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Celia Cordero-Sanchez is joint first author on ‘A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy’, published in DMM. Celia is a PhD student in the lab of Armando Genazzani at the University of Piemonte Orientale, investigating a mouse model of tubular aggregate myopathy.
Source: DMM Disease Models and Mechanisms - December 2, 2019 Category: Biomedical Science Tags: FIRST PERSON Source Type: research

A Rare Case of Paralysis
​BY ALEXANDRA SALAS; JENNIFER TUONG; IVAN KHARCHENKO; VICTOR RIVERA; & AHMED RAZIUDDIN, MDA 27-year-old man with a past medical history of ADHD managed with Adderall presented to the emergency department with bilateral upper leg weakness associated with soreness since the day before. He had run 2.5 miles before his symptoms started.The symptoms progressively worsened until he was not able to walk or get up from a sitting position. He was also experiencing weakness in his arms. He had no associated trauma, headache, vision changes, chest pain, shortness of breath, fever, abdominal pain, nausea, vomiting, diarrhea, or ...
Source: The Case Files - August 27, 2019 Category: Emergency Medicine Tags: Blog Posts Source Type: research

Antisynthetase syndrome presenting as interstitial lung disease: a case report
ConclusionAntisynthetase syndrome is a rare clinical entity which apart from clinical presentation requires specific serological investigations for diagnosis. Concomitant association of interstitial lung disease gives it a guarded prognosis.
Source: Journal of Medical Case Reports - August 3, 2019 Category: General Medicine Source Type: research

Blood Levels of Co-inhibitory-Receptors: A Biomarker of Disease Prognosis in Multiple Sclerosis
Discussion Our main finding is that LAG-3 and TIM-3 expression levels in the PBMCs of MS patients can aid to predict disease outcome. Lower LAG-3 and TIM-3 expression were associated with the worst outcome and increased likelihood to progress to SPMS, while higher LAG-3 and TIM-3 expression correlated significantly with benign prognosis, persisting RRMS, and lower EDSS score at 10 years after blood sampling. Analysis of the paraclinical and clinical parameters baseline brain MRI T2LV, EDSS at diagnosis, and 1-year progression index combined with LAG-3 and TIM-3 expression levels resulted in superior ability to identify pa...
Source: Frontiers in Immunology - April 29, 2019 Category: Allergy & Immunology Source Type: research

7th drug hypersensitivity meeting: part one
Table of contentsOral AbstractsO1 Functionally distinct HMGB1 isoforms correlate with physiological processes in drug-induced SJS/TENDaniel F. Carr, Wen-Hung Chung, Rosalind E. Jenkiins, Mas Chaponda, Gospel Nwikue, Elena M. Cornejo Castro, Daniel J. Antoine, Munir PirmohamedO2 Hypersensitivity reactions to beta-lactams, does the t cell recognition pattern influence the clinical picture?Natascha Wuillemin, Dolores Dina, Klara K. Eriksson, Daniel YerlyO3 Specific binding characteristics of HLA alleles associated with nevirapine hypersensitivityRebecca Pavlos, Elizabeth Mckinnin, David Ostrov, Bjoern Peters, Soren Buus, Davi...
Source: Clinical and Translational Allergy - August 24, 2016 Category: Allergy & Immunology Source Type: research

Proximal Myopathy in Interferon Based Therapy
(Combined Military Hospital, Kharian Cantt, Pakistan)(Case Report; p137-139)
Source: Journal of Pakistan Medical Students - October 6, 2015 Category: Universities & Medical Training Authors: JPMS Source Type: research

Pharmacokinetic study of rosuvastatin in males and females
Abstract Rosuvastatin is used to treat dyslipidemia and is metabolized by CYP2C9 that shows variable metabolic activity in males and females. Pharmacokinetics (PK) of drugs varies in males and females that may result in altered drug response and therapeutic efficacy. In current study, PK of rosuvastatin has been evaluated in males and females. A single oral dose (40 mg rosuvastatin), open-label and non-controlled PK study was arranged. A reversed phase HPLC method was applied for quantification of rosuvastatin in serum samples. PK parameters of rosuvastatin were compared in males and females by applying student ...
Source: European Journal of Drug Metabolism and Pharmacokinetics - August 29, 2015 Category: Drugs & Pharmacology Source Type: research

Polyneuritis cranialis with generalized hyperreflexia as a presenting manifestation of thyrotoxicosis
Gaurav M Kasundra, Amita Narendra Bhargava, Bharat Bhushan, Khichar Shubhakaran, Isha SoodAnnals of Indian Academy of Neurology 2015 18(2):240-242A 22-year-old male student with no past medical illness, presented with acute onset dysarthria, binocular diplopia, and dysphagia over 10 hours. On examination, he had tachycardia, hypertension, generalized hyper-reflexia, and bilateral pupil sparing oculomotor, troclear, abducens, trigeminal, facial, glossopharyngeal, and vagus nerve palsy. Rest examination was unremarkable. Facial nerve conduction study (NCS) showed decreased amplitude bilaterally and neurogenic pattern on elec...
Source: Annals of Indian Academy of Neurology - May 8, 2015 Category: Neurology Authors: Gaurav M KasundraAmita Narendra BhargavaBharat BhushanKhichar ShubhakaranIsha Sood Source Type: research

The FVB Background Does Not Dramatically Alter the Dystrophic Phenotype of Mdx Mice
Discussion To meet the practical needs of our transgenic studies, we crossed the BL10-background mdx mice with FVB/NJ mice. Recent studies suggest that the so-called “wild type” inbred mice may actually carry various changes in their genome. For example, the commonly used A/J mice were recently show to display progressive muscular dystrophy due to a mutation in the dysferlin gene 24. The FVB strain was also found to carry mutations in several genes of the visual system 25. It is thus important to determine whether the FVB background alters the dystrophic phenotype of the original mdx mice. After seven generations of ba...
Source: PLOS Currents Muscular Dystrophy - February 10, 2015 Category: Neurology Authors: Nalinda B. Wasala Source Type: research

Progressive Ophthalmoplegia with Ocular and Generalized Myopathy with Ragged-Red Fibers, Linear Scleroderma and Contralateral Cerebral Hemiatrophy (P3.289)
CONCLUSIONS:The presenting sign of progressive ptosis is suggestive of chronic progressive ophthalmoplegia (CPEO), which is not probable since generalized myopathic EMG findings, circumscript scleroderma as well as progressive left hemispheric atrophy cannot be attributed to CPEO.A small number of similar cases were classified as Parry-Romberg syndrome, although with hemifacial atrophy, linear scleroderma and myopathy, and usually attributed to an autoimmune disorder.The combination of ocular and generalized myopathy, progressive cerebral atrophy and circumscript scleroderma has not been reported in this form to date.We pr...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Haupt, W., Rabenstein, M., Brunn, A., Burghaus, L. Tags: Myopathies/Muscle Disease Source Type: research

Ataxia and epilepsy due to a rare autosomal mitochondrial disease
We report a case of a twenty three year old female presenting with status epilepticus due to a rare mutation in a nuclear gene causing mitochondrial dysfunction. She had previously been investigated for an inherited ataxia without a definitive diagnosis being made. She presented as an emergency with focal seizures that rapidly evolved into intractable status epilepticus. Despite prolonged, aggressive treatment in Intensive Care Unit, she remained encephalopathic with persisting seizures. Her younger sister who also has milder symptoms with ataxia visited our hospital on the day of acute admission and revealed some useful i...
Source: Journal of Neurology, Neurosurgery and Psychiatry - October 9, 2013 Category: Neurosurgery Authors: Cheripelli, B. K., Duncan, C. Tags: Genetics, Brain stem / cerebellum, Cranial nerves, Epilepsy and seizures, Muscle disease, Neuromuscular disease, Ophthalmology, Hospice, Drugs: psychiatry, Musculoskeletal syndromes Association of British Neurologists (ABN) joint meeting with the Royal Source Type: research