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Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis
Isolated complex III (CIII) deficiencies are among the least frequently diagnosed mitochondrial disorders. Clinical symptoms range from isolated myopathy to severe multi-systemic disorders with early death and disability. To date, we know of pathogenic variants in genes encoding five out of 10 subunits and five out of 13 assembly factors of CIII. Here we describe rare bi-allelic variants in the gene of a catalytic subunit of CIII, UQCRFS1, which encodes the Rieske iron-sulfur protein, in two unrelated individuals.
Source: The American Journal of Human Genetics - December 25, 2019 Category: Genetics & Stem Cells Authors: Mirjana Gusic, Gudrun Schottmann, Ren é G. Feichtinger, Chen Du, Caroline Scholz, Matias Wagner, Johannes A. Mayr, Chae-Young Lee, Vicente A. Yépez, Norbert Lorenz, Susanne Morales-Gonzalez, Daan M. Panneman, Agnès Rötig, Richard J.T. Rodenburg, Saski Tags: Report Source Type: research

P.54Defects in iron-sulphur cluster assembly proteins ISCU and FDX2 cause characteristic mitochondrial myopathy
Iron-sulphur (Fe-S) cluster-containing enzymes are essential for generation of energy for metabolic purposes. The mitochondrial respiratory chain, which includes Fe-S containing enzymes (Complex I-III) and a heme-containing enzyme (Complex IV), may be affected secondary to defects in Fe-S cluster biogenesis. How such defects affect the five enzyme complexes of the respiratory chain at the cellular level in tissues has not been clarified. We have analyzed muscle tissue from four patients with mutations in ISCU encoding mitochondrial Fe-S cluster scaffold protein, ISCU, and four patients with mutations in the FDX2 gene encoding ferredoxin 2.
Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: C. Thomsen, J. Gurgel-Giannetti, Y. Sunnerhagen, A. Giannetti, F. Kok, M. Vainzof, A. Oldfors Source Type: research

GSE129811 The effect of an NAD+ precursor vitamin B3, niacin, on muscle transcriptomic profiles of mitochondrial myopathy patients and healthy controls
Conclusions: These results showed that niacin modulated the expression of disease associated pathways and suppressed mTOR signalling in patients but niacin did not affect disease-related ISRmt signalling.
Source: GEO: Gene Expression Omnibus - September 17, 2019 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research

Recent progress in Gene Therapy and Other Targeted Therapeutic Approaches for Beta Thalassemia.
Abstract Thalassemia syndromes are a group of inherited blood disorders caused by limitation or absence of alpha or beta- globin chain synthesis resulting in ineffective erythropoiesis and chronic hemolytic anemia. According to the clinical fact of thalassemia as recessive autosomal, thalassemia divided into alpha and beta thalassemia. The main complication of beta thalassemia is excessive red blood cells destruction, oxidative stress, extramedullary hematopoiesis pseudotumors, hemosiderosis-induced organ dysfunction, malignancy, polyneuropathy, myopathy, osteoporosis, and leg ulcers. Although, the first obligator...
Source: Current Drug Targets - July 25, 2019 Category: Drugs & Pharmacology Authors: Hamed EM, Meabed MH, Aly UF, Hussein RRS Tags: Curr Drug Targets Source Type: research

How Common is Restless Legs Syndrome in Children?
Discussion Restless legs syndrome (RLS) is also known as Willis-Ekbom disease. RLS is a clinical diagnosis with criteria being: 1. An urge to move the legs usually accompanied by uncomfortable and unpleasant sensations in the lower extremities (Note: sometimes other body parts can be affected) 2. The urge to move begins or worsens when sitting or lying down 3. The urge to move is partially or totally relieved by movement (Note: relief by activity may not be noticable if severely affected but must have been previously present) 4. The urge to move the legs and any accompanying unpleasant sensations during rest or in activ...
Source: PediatricEducation.org - June 10, 2019 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Neurologic conditions and disorders of uremic syndrome of chronic kidney disease: Presentations, causes and treatment strategies.
Authors: Hamed SA Abstract INTRODUCTION: Uremic syndrome of chronic kidney disease (CKD) is a term used to describe clinical, metabolic and hormonal abnormalities associated with progressive kidney failure. It is a rapidly growing public health problem worldwide. Nervous system complications occur in every patient with uremic syndrome of CKD. Areas covered: This review summarized central and peripheral nervous system complications of uremic syndrome of CKD and their pathogenic mechanisms. They include cognitive deterioration, encephalopathy, seizures, asterixis, myoclonus, restless leg syndrome, central pontine mye...
Source: Expert Review of Clinical Pharmacology - December 7, 2018 Category: Drugs & Pharmacology Tags: Expert Rev Clin Pharmacol Source Type: research

Polyneuropathy Associated with Severe Iron Overload and Oxidative Stress in β-Thalassemia Patients
AbstractTo investigate the frequency of peripheral neuropathy in patients with β-thalassemia, and to assess its relation to iron overload and oxidative stress. Sixty β-thalassemia patients with mean age of 19 ± 4.9 years were recruited. Serum ferritin was quantitatively assessed by enzyme-linked immunoassay and biomarkers of oxidative stress were estimated calorimetric ally. Electrophysiological studies using NEMUS 2, Galileu Software were carried out. The patients were separated into two groups: those with abnormal nerve conduction studies (NCS) {Group A; N = 38} and those with normal NCS {Group B; N = 22}...
Source: Indian Journal of Hematology and Blood Transfusion - November 22, 2018 Category: Hematology Source Type: research

Rare Diseases Inform Myocardial Phenotypes for Precision Medicine
Friedreich's Ataxia (FA) is an autosomal recessive ‘triplet repeat’ disorder characterized by cerebellar degeneration, long tract and a generalized myopathy.1 While neurological symptoms typically antedate any clinical cardiac involvement, heart failure remains the dominant cause of death in FA. The genetic basis of the disorder is dramatic expa nsion of a GAA repeat sequence in the first intron of the FRDA gene which encodes an iron-binding mitochondrial protein whose function remains incompletely understood.
Source: Journal of Cardiac Failure - September 13, 2018 Category: Cardiology Authors: Calum A. MacRae Tags: Brief Report Source Type: research

Metabolic myopathies i
Hereditary myopathy with lactic acidosis and myopathy with deficiency of succinate dehydrogenase and aconitase are variants of a recessive disorder characterised by childhood-onset early fatigue, dyspnoea and palpitations on trivial exercise. The disease is non-progressive, but life-threatening episodes of widespread weakness, metabolic acidosis and rhabdomyolysis may occur. So far, this disease has been molecularly defined only in Swedish patients, all homozygous for a deep intronic splicing affecting mutation in ISCU encoding a scaffold protein for the assembly of iron-sulfur (Fe-S) clusters.
Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: C. Gitiaux, S. Gobin-Limballe, I. Desguerre, C. Barnerias, P. De Lonlay, F. Authier Source Type: research

MITOCHONDRIAL DISEASES (Posters)
Iron –sulphur cluster containing proteins are essential for iron homeostasis and respiratory chain function, with ISCU being among the most conserved proteins in evolution. Deficiency of the mitochondrial isoform due to deleterious mutations in the ISCU gene is associated with mitochondrial myopathy an d exercise intolerance known as hereditary myopathy with lactic acidosis (OMIM #255125). Biochemical investigations demonstrate a characteristic profound complex II (succinate dehydrogenase, SDH) deficiency in addition to complex I and complex IV (cytochrome c oxidase, COX) deficiency.
Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: C. Thomsen, Y. Sunnerhagen, A. Oldfors Source Type: research

A novel complex neurological phenotype due to a homozygous mutation in FDX2
This study describes a novel complex neurological phenotype with unusual MRI and muscle biopsy features, conclusively mapped to a mutation inFDX2, which encodes a ubiquitously expressed mitochondrial ferredoxin essential for early [Fe-S] cluster biogenesis.
Source: Brain - July 13, 2018 Category: Neurology Source Type: research

Polyneuropathy and myopathy in beta-thalassemia major patients
AbstractThe thalassemias are the most common single gene disorder in the world. Nowadays, the average life expectancy of patients in developed countries has increased significantly, while, there was an increase of complications. We aimed to investigate peripheral neuropathy and myopathy in this patient group using a neurophysiological study. We performed nerve conduction studies and electromyography of upper and lower extremities on 36 beta-thalassemia major ( β-thal) patients. The electrophysiological findings were correlated with demographic data and laboratory parameters of the disease. Patients with β-thal present po...
Source: Annals of Hematology - March 29, 2018 Category: Hematology Source Type: research

Anatomic & amp; metabolic brain markers of the m.3243A & gt;G mutation: A multi-parametric 7T MRI study
In this study, ultra-high field MRI at 7T and volume- and surface-based data analyses approaches were used to highlight morphology (i.e. atrophy)-, microstructure (i.e. myelin and iron concentration)- and metabolism (i.e. cerebral blood flow)-related differences between patients (N = 22) and healthy controls (N = 15). The use of quantitative MRI at 7T allowed us to detect subtle changes of biophysical processes in the brain with high accuracy and sensitivity, in addition to typically assessed lesions and atrophy. Furthermore, the effect of m.3243A>G mutation load in blood and urine epithelial cells on these ...
Source: NeuroImage: Clinical - February 28, 2018 Category: Radiology Source Type: research

Anatomic & amp; metabolic brain markers of the m.3243A & gt;G mutation: A multi-parametric 7  T MRI study
In this study, ultra-high field MRI at 7 T and volume- and surface-based data analyses approaches were used to highlight morphology (i.e. atrophy)-, microstructure (i.e. myelin and iron concentration)- and metabolism (i.e. cerebral blood flow)-related differences between patients (N = 22) and healthy controls (N = 15). The use of quantitative MRI at 7 T allowed us to detect subtle changes of biophysical processes in the brain with high accuracy and sensitivity, in addition to typically assessed lesions and atrophy. Furthermore, the effect of m.3243A>G mutation load in blood and urine epithelial cells on ...
Source: NeuroImage: Clinical - February 1, 2018 Category: Radiology Source Type: research

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