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Osteomalacic Myopathy in Children and Adolescents with Vitamin-D Deficiency
Conclusions: Vitamin-D deficiency should be considered in the differential diagnosis of proximal myopathy in children and adolescents.
Source: Neurology India - December 23, 2021 Category: Neurology Authors: Suhalika S Sahni Shruti Kakkar Ruchika Kumar Jatinder S Goraya Source Type: research

Vasculitis and neurobrucellosis: Evaluation of nine cases using radiologic findings
ConclusionsWe aimed to present our cases due to the fact that this disease should be kept in mind in the differential diagnosis of patients with stroke and similar neuropsychiatric findings. Vascular syndromes are rarely seen in inflammation in Neurobrucellosis. Neurobrucellosis should be kept in mind in the differential diagnosis of stroke and patients with similar neuropsychiatric findings.
Source: Brain and Behavior - March 1, 2018 Category: Neurology Authors: Sule Aydin Turkoglu, Siddika Halicioglu, Fatma Sirmatel, Murside Yildiz, Nebil Yildiz, Serpil Yildiz Tags: ORIGINAL RESEARCH Source Type: research

Pediatric presentation of Marinesco –Sjögren syndrome with a novel SIL1 mutation in two siblings
Marinesco –Sjögren syndrome (MSS) is an autosomal recessive multisystem disorder characterized by cerebellar ataxia with cerebellar atrophy, early onset cataracts, progressive myopathy, hypotonia, and mild to severe intellectual disability. Children with MSS usually present with muscular hypotonia in early infancy; distal and proximal muscular weakness is noticed during the first decade of life. Diagnosis is based on a clinic approach including radiographic and neuroimaging studies, but ultimately based molecular genetics.
Source: Neuromuscular Disorders - September 10, 2016 Category: Neurology Authors: A. Ka çar Bayram, N. Bayram, S. Çırak, S. Doğanay, H. Gumus, H. Per Source Type: research

Clinical Reasoning: A 33-year-old man with cardiomyopathy and myopathy
An 18-year-old Hmong man sought medical care because of worsening performance on military training exercises. He had a previous syncopal episode with prompt recovery. His medical and developmental history were otherwise unremarkable. A chest radiograph revealed cardiomegaly and, after further cardiac tests, he was diagnosed with postinfectious or idiopathic cardiomyopathy. His cardiac function deteriorated and heart transplantation was pursued. During preoperative evaluation, his serum creatine kinase (CK) was noted to be persistently elevated in the 4,000s, prompting further investigation, but since he was not weak or oth...
Source: Neurology - August 21, 2016 Category: Neurology Authors: Foster, L. A., Courville, E. L., Manousakis, G. Tags: Lipidoses, Muscle disease, Cardiac, All Genetics RESIDENT AND FELLOW SECTION Source Type: research

G.p.135
Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy in adults with autosomal dominant inheritance and multisystemic involvements. The core features comprise progressive myopathy, often with a pronounced facial muscle atrophy and weakness. The aim of this study is to characterize dental and orthodontic aspects of this disease and to discuss possibles therapeutic strategies. The study concerned 16 patients, 6 women and 10 men, aged 13–63years, with the genetically proved DM1. All patients were evaluated with clinical orthodontic and dental examination as well as a panoramic radiograph and lateral cephalogram.
Source: Neuromuscular Disorders - October 1, 2014 Category: Neurology Authors: , A. Lusakowska, D. Maciejak, A.M. Kaminska, M. Zadurska Source Type: research

G.P.135: Dental and orthodontic aspects of myotonic dystrophy type 1
Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy in adults with autosomal dominant inheritance and multisystemic involvements. The core features comprise progressive myopathy, often with a pronounced facial muscle atrophy and weakness. The aim of this study is to characterize dental and orthodontic aspects of this disease and to discuss possibles therapeutic strategies. The study concerned 16 patients, 6 women and 10 men, aged 13–63years, with the genetically proved DM1. All patients were evaluated with clinical orthodontic and dental examination as well as a panoramic radiograph and lateral cephalog...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: D. Nadaj, A. Lusakowska, D. Maciejak, A.M. Kaminska, M. Zadurska Source Type: research