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Metabolic myopathy

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https://www.readbyqxmd.com/read/29623355/clinical-and-laboratory-features-of-patients-with-osteomalacia-initially-presenting-with-neurological-manifestations
#1
S W Kim, N Hong, Y Rhee, Y-C Choi, H Y Shin, S M Kim
Patients with osteomalacia often visit the neurology department with conditions mimicking other myopathies. We analyzed clinical features of osteomalacia patients who visited the neurology department. These patients frequently presented with hypocalcemia, hypovitaminosis D, and pain with less severe weakness. Osteomalacia should be considered when patients present with pain and weakness. INTRODUCTION: Osteomalacia is a disease of bone metabolism; however, some patients with osteomalacia initially visit the neurology department...
April 5, 2018: Osteoporosis International
https://www.readbyqxmd.com/read/29615056/patient-with-multiple-acyl-coa-dehydrogenase-deficiency-disease-and-etfdh-mutations-benefits-from-riboflavin-therapy-a-case-report
#2
Liuh Ling Goh, Yingshan Lee, Ee Shien Tan, James Soon Chuan Lim, Chia Wei Lim, Rinkoo Dalan
BACKGROUND: Lipid storage myopathy (LSM) is a diverse group of lipid metabolic disorders with great variations in the clinical phenotype and age of onset. Classical multiple acyl-CoA dehydrogenase deficiency (MADD) is known to occur secondary to mutations in electron transfer flavoprotein dehydrogenase (ETFDH) gene. Whole exome sequencing (WES) with clinical correlations can be useful in identifying genomic alterations for targeted therapy. CASE PRESENTATION: We report a patient presented with severe muscle weakness and exercise intolerance, suggestive of LSM...
April 3, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29614965/genetic-analysis-and-clinical-assessment-of-four-patients-with-glycogen-storage-disease-type-iiia-in-china
#3
Yu Zhang, Mingming Xu, Xiaoxia Chen, Aijuan Yan, Guoyong Zhang, Zhenguo Liu, Wenjuan Qiu
BACKGROUND: Glycogen Storage Disease Type III (GSD III) is a rare autosomal recessive metabolic disorder caused by AGL gene mutation. There is significant heterogeneity between the clinical manifestations and the gene mutation of AGL among different ethnic groups. However, GSD III is rarely reported in Chinese population. CASE PRESENTATION: In this study, we aimed to study the genetic and clinical characteristics of four patients with GSD IIIa from China, especially the neurological manifestations...
April 4, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29611350/oxidative-stress-and-antioxidant-treatment-in-patients-with-peripheral-artery-disease
#4
REVIEW
Panagiotis Koutakis, Ahmed Ismaeel, Patrick Farmer, Seth Purcell, Robert S Smith, Jack L Eidson, William T Bohannon
Peripheral artery disease is an atherosclerotic disease of arterial vessels that mostly affects arteries of lower extremities. Effort induced cycles of ischemia and reperfusion lead to increased reactive oxygen species production by mitochondria. Therefore, the pathophysiology of peripheral artery disease is a consequence of metabolic myopathy, and oxidative stress is the putative major operating mechanism behind the structural and metabolic changes that occur in muscle. In this review, we discuss the evidence for oxidative damage in peripheral artery disease and discuss management strategies related to antioxidant supplementation...
April 2018: Physiological Reports
https://www.readbyqxmd.com/read/29589533/liver-and-statins-a-critical-appraisal-of-the-evidence
#5
Anna Licata, Antonina Giammanco, Maria Giovanna Minissale, Salvatore Pagano, Salvatore Petta, Maurizio Averna
Adverse drug reactions (ADRs) represent an important cause of morbidity and mortality worldwide. Statins are a class of drugs whose main adverse effects are drug-induced liver injury (DILI) and myopathy. Some of these may be predictable, due to their pharmacokinetic and pharmacodynamic properties, while others, unfortunately, are idiosyncratic. Genetic factors may also influence patient susceptibility to DILI and myopathy in the case of statins. This review will first discuss the role of statins in cardiovascular disease treatment and prevention and the underlying mechanisms of action...
March 26, 2018: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/29577809/spectrum-of-neuromuscular-disorders-with-hyperckemia-from-a-tertiary-care-pediatric-neuromuscular-center
#6
Fouad Al-Ghamdi, Basil T Darras, Partha S Ghosh
Elevated creatine kinase is a useful screening test in the diagnostic workup of patients with neuromuscular disorders. We did a retrospective study of children with hyperCKemia (>175 IU/L) who were followed in the neuromuscular program of a tertiary care pediatric center from 2005 to 2016. Patients with hyperCKemia were divided into 2 groups: myopathic and nonmyopathic. Within the myopathic group, there were 3 arbitrary subgroups based on creatine kinase values: A (creatine kinase >10 times normal), B (creatine kinase 5-10 times normal), and C (creatine kinase 1-5 times normal)...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29556838/long-term-follow-up-of-17-patients-with-childhood-pompe-disease-treated-with-enzyme-replacement-therapy
#7
Jan C van der Meijden, Michelle E Kruijshaar, Laurike Harlaar, Dimitris Rizopoulos, Nadine A M E van der Beek, Ans T van der Ploeg
OBJECTIVES: Pompe disease is a progressive metabolic myopathy for which enzyme replacement therapy (ERT) was approved in 2006. While various publications have examined the effects of ERT in classic-infantile patients and in adults, little has been published on ERT in children with non-classic presentations. STUDY DESIGN: This prospective study was conducted from June 1999 to May 2015. Seventeen patients from various countries participated. Outcome measures comprised muscle function (6-minute walk test, quick motor-function test (QMFT)), muscle strength (hand-held dynamometry; manual muscle testing), and lung function (FVC sitting and supine)...
March 19, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29539587/patients-with-neutral-lipid-storage-disease-with-myopathy-nlsdm-in-southwestern-china
#8
Jiaze Tan, Haitao Yang, Jingchuan Fan, Yulan Fan, Fei Xiao
OBJECTIVES: Neutral lipid storage disease with myopathy (NLSDM) is a rare metabolic myopathy occurring owing to mutations in the patatin like phospholipase domain containing 2 (PNPLA2) gene. Till date, less than 50 patients with PNPLA2 mutations have been reported. In this study, we describe the clinical, pathological, and genetic findings, and muscle magnetic resonance imaging (MRI) changes in four Chinese patients with NLSDM. PATIENTS AND METHODS: Peripheral blood smears were stained using Wright's stain...
March 5, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29534995/statin-induced-myopathy-slco1b1-521t-c-is-associated-with-prediabetes-high-body-mass-index-and-normal-lipid-profile-in-emirati-population
#9
Maha Saber-Ayad, Shaista Manzoor, Ahmed El-Serafy, Ibrahim Mahmoud, Salah Abusnana, Nabil Sulaiman
BACKGROUND: Statin-induced myopathy has been linked to the C allele of a single nucleotide polymorphism (SNP) (rs4149056) of SLCO1B1 gene. This effect is more significant, but not restricted to simvastatin. Many studies have included European, American, African and Southeast Asian ancestries, but few were carried out on Middle Eastern population. AIM: To detect the prevalence of SLCO1B1 rs4149056 (521T>C) in Emirati population. METHOD: We recruited 282 Emiratis through the UAE National Diabetes and Lifestyle Project...
March 10, 2018: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/29523196/2-deoxy-2-18-fluoro-d-glucose-pet-ct-18fdg-pet-ct-may-not-be-a-viable-biomarker-in-pompe-disease
#10
U Plöckinger, V Prasad, A Ziagaki, N Tiling, A Poellinger
BACKGROUND: Pompe disease (PD) is an autosomal recessive, lysosomal storage disease due to a mutation of the acid α-glucosidase (GAA) gene. In adult patients, PD is characterized by slowly progressive limb-girdle and trunk myopathy and restrictive respiratory insufficiency. Enzyme replacement therapy (ERT) is available, improving or stabilizing muscle-function in some and slowing deterioration in other patients. Unfortunately, there is no biomarker available to indicate therapeutic efficacy and/or disease activity...
March 9, 2018: Human Genomics
https://www.readbyqxmd.com/read/29517768/mitochondrial-oxodicarboxylate-carrier-deficiency-is-associated-with-mitochondrial-dna-depletion-and-spinal-muscular-atrophy-like-disease
#11
Veronika Boczonadi, Martin S King, Anthony C Smith, Monika Olahova, Boglarka Bansagi, Andreas Roos, Filmon Eyassu, Christoph Borchers, Venkateswaran Ramesh, Hanns Lochmüller, Tuomo Polvikoski, Roger G Whittaker, Angela Pyle, Helen Griffin, Robert W Taylor, Patrick F Chinnery, Alan J Robinson, Edmund R S Kunji, Rita Horvath
PurposeTo understand the role of the mitochondrial oxodicarboxylate carrier (SLC25A21) in the development of spinal muscular atrophy-like disease.MethodsWe identified a novel pathogenic variant in a patient by whole-exome sequencing. The pathogenicity of the mutation was studied by transport assays, computer modeling, followed by targeted metabolic testing and in vitro studies in human fibroblasts and neurons.ResultsThe patient carries a homozygous pathogenic variant c.695A>G; p.(Lys232Arg) in the SLC25A21 gene, encoding the mitochondrial oxodicarboxylate carrier, and developed spinal muscular atrophy and mitochondrial myopathy...
March 8, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29512533/-homeostasis-and-disorder-of-musculoskeletal-system-influence-of-steroid-therapy-on-muscuoskeletal-system
#12
Hirotoshi Tanaka
Muscle atrophy occurs when glucocorticoid steroids are administered in pharmacological doses or in Cushing syndrome, and such pathological condition is termed as steroid myopathy. Its molecular mechanism is clarified from the study of the gene expression regulation mechanism mediated by steroid receptors in skeletal muscle, progressing to translational research and also addressing the mechanism by which steroids participate in the regulation of whole body energy metabolism via skeletal muscle.
2018: Clinical Calcium
https://www.readbyqxmd.com/read/29510724/diversification-of-the-muscle-proteome-through-alternative-splicing
#13
REVIEW
Kiran Nakka, Claudia Ghigna, Davide Gabellini, F Jeffrey Dilworth
BACKGROUND: Skeletal muscles express a highly specialized proteome that allows the metabolism of energy sources to mediate myofiber contraction. This muscle-specific proteome is partially derived through the muscle-specific transcription of a subset of genes. Surprisingly, RNA sequencing technologies have also revealed a significant role for muscle-specific alternative splicing in generating protein isoforms that give specialized function to the muscle proteome. MAIN BODY: In this review, we discuss the current knowledge with respect to the mechanisms that allow pre-mRNA transcripts to undergo muscle-specific alternative splicing while identifying some of the key trans-acting splicing factors essential to the process...
March 6, 2018: Skeletal Muscle
https://www.readbyqxmd.com/read/29502916/inborn-errors-of-metabolism-with-myopathy-defects-of-fatty-acid-oxidation-and-the-carnitine-shuttle-system
#14
REVIEW
Areeg El-Gharbawy, Jerry Vockley
Fatty acid oxidation disorders (FAODs) and carnitine shuttling defects are inborn errors of energy metabolism with associated mortality and morbidity due to cardiomyopathy, exercise intolerance, rhabdomyolysis, and liver disease with physiologic stress. Hypoglycemia is characteristically hypoketotic. Lactic acidemia and hyperammonemia may occur during decompensation. Recurrent rhabdomyolysis is debilitating. Expanded newborn screening can detect most of these disorders, allowing early, presymptomatic treatment...
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29491033/a-nonsense-variant-in-the-acadvl-gene-in-german-hunting-terrier-dogs-with-exercise-induced-metabolic-myopathy
#15
Vincent Lepori, Franziska Mühlhause, Adrian C Sewell, Vidhya Jagannathan, Nils Janzen, Marco Rosati, Filipe Miguel Maximiano Alves de Sousa, Aurélie Tschopp, Gertraud Schüpbach, Kaspar Matiasek, Andrea Tipold, Tosso Leeb, Marion Kornberg
Several enzymes are involved in fatty acid oxidation, which is a key process in mitochondrial energy production. Inherited defects affecting any step of fatty acid oxidation can result in clinical disease. We present here an extended family of German Hunting Terriers with 10 dogs affected by clinical signs of exercise induced weakness, muscle pain, and suspected rhabdomyolysis. The combination of clinical signs, muscle histopathology and acylcarnitine analysis with an elevated tetradecenoylcarnitine (C14:1) peak suggested a possible diagnosis of acyl-CoA dehydrogenase very long chain deficiency (ACADVLD)...
February 28, 2018: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29475365/a-new-case-of-chanarin-dorfman-syndrome-with-a-novel-deletion-in-abhd5-gene
#16
Shahrbanoo Nakhaei, Hamed Heidary, Aliasghar Rahimian, Mahdi Vafadar, Farzaneh Rohani, Gholam Reza Bahoosh, Davoud Amirkashani
Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive metabolic disorder caused by mutations in gene encoding the domain-5 of α/β-hydrolase enzyme (ABHD5). It is known as a natural lipid storage disorder arising from impaired lipid metabolism often characterized by hepatomegaly, myopathy, ataxia, non-bullous ichthyosiform erythroderma, hearing loss, and mental retardation. In the present study, we report two affected 28-month-old monozygotic twin boys as a new case of CDS. Genetic analysis was performed in patients, and the results showed a homozygote deletion in exon 4 of ABHD5...
February 24, 2018: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/29471047/a-urinary-biosignature-for-mitochondrial-myopathy-encephalopathy-lactic-acidosis-and-stroke-like-episodes-melas
#17
Karien Esterhuizen, J Zander Lindeque, Shayne Mason, Francois H van der Westhuizen, Anu Suomalainen, Anna H Hakonen, Christopher J Carroll, Richard J Rodenburg, Paul B de Laat, Mirian C H Janssen, Jan A M Smeitink, Roan Louw
We used a comprehensive metabolomics approach to study the altered urinary metabolome of two mitochondrial myopathy, encephalopathy lactic acidosis and stroke like episodes (MELAS) cohorts carrying the m.3243A>G mutation. The first cohort were used in an exploratory phase, identifying 36 metabolites that were significantly perturbed by the disease. During the second phase, the 36 selected metabolites were able to separate a validation cohort of MELAS patients completely from their respective control group, suggesting usefulness of these 36 markers as a diagnostic set...
February 19, 2018: Mitochondrion
https://www.readbyqxmd.com/read/29457121/anesthesia-for-patients-with-ptrf-mutations-a-case-report
#18
Atsuko Hirano, Tomohiko Takada, Mariko Senda, Hidemasa Takahashi, Takeo Suzuki
Background: Polymeraze I and transcript release factor ( PTRF ) mutations are a newly recognized disease, which cause congenital generalized lipodystrophy associated with myopathy. Case presentation: A 29-year-old man (height 126 cm; weight 22 kg) with a PTRF mutation was scheduled for mandibular dentigerous cystectomy. His primary symptoms were lipodystrophy, myopathy, long QT syndrome, refractory nephrosis, and abnormal lipid metabolism. Defibrillator pads were applied soon after the patient entered the operating room...
2018: JA Clinical Reports
https://www.readbyqxmd.com/read/29424033/mitochondrial-dysfunction-in-human-skeletal-muscle-biopsies-of-lipid-storage-disorder
#19
B Debashree, Manish Kumar, T S Keshava Prasad, Archana Natarajan, Rita Christopher, A Nalini, P S Bindu, N Gayathri, M M Srinivas Bharath
Mitochondria regulate the balance between lipid metabolism and storage in the skeletal muscle. Altered lipid transport, metabolism and storage influence the bioenergetics, redox status and insulin signalling contributing to cardiac and neurological diseases. Lipid storage disorders (LSDs) are neurological disorders which entail intramuscular lipid accumulation and impaired mitochondrial bioenergetics in the skeletal muscle causing progressive myopathy with muscle weakness. However, the mitochondrial changes including molecular events associated with impaired lipid storage have not been completely understood in the human skeletal muscle...
February 9, 2018: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29405939/neuromuscular-features-of-hypophosphatasia
#20
C Fonta, J-P Salles
The pathophysiology of the neuromuscular manifestations of hypophosphatasia (HPP) remains unknown. Pyridoxine-sensitive seizures characterize severe forms of infantile HPP. Young children and infants affected with severe forms of HPP, but also adults often present with myopathy characterized by hypotonia or muscle weakness. Chronic pain, of unclear mechanism is also often present. Tissue-non-specific alkaline phosphatase (Alkaline Phosphatase-Liver/Bone/Kidney [ALPL]) is expressed in brain neuronal cell and in muscle cells during development and adulthood...
May 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
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