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https://www.readbyqxmd.com/read/28433475/targeted-population-screening-of-late-onset-pompe-disease-in-unspecified-myopathy-patients-for-korean-population
#1
Jung Hwan Lee, Jin-Hong Shin, Hyung Jun Park, Sook Za Kim, Young Mi Jeon, Hye Kyoung Kim, Dae-Seong Kim, Young-Chul Choi
We performed targeted population screening of late onset Pompe disease (LOPD) in unspecified myopathy patients, because early diagnosis is difficult due to its heterogeneous clinical features. We prospectively enrolled 90 unrelated myopathic patients who had one or more signs out of five LOPD-like clinical findings (proximal weakness, axial weakness, lingual weakness, respiratory difficulty, idiopathic hyperCKemia). Acid alpha glucosidase activity was evaluated with dried blood spot and mixed leukocyte simultaneously...
March 10, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28411586/inherited-and-acquired-muscle-weakness-a-moving-target-for-diagnostic-muscle-biopsy
#2
Werner Stenzel, Benedikt Schoser
Inherited and acquired muscular weakness is caused by multiple conditions. While the inherited ones are mostly caused by mutations in genes coding for myopathic or neurogenic diseases, the acquired ones occur due to inflammatory, endocrine, or toxic etiologies. Precise diagnosis of a specific disease may be challenging and may require a multidisciplinary approach. What is the current place for a diagnostic biopsy of skeletal muscle? Diagnostic muscle biopsy lost in this context its first-tier place in the primary diagnostic workup for some diseases, but it is still mandatory for others...
April 15, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28410251/association-of-need-for-tracheotomy-with-decreasing-mechanical-in-exsufflation-flows-in-amyotrophic-lateral-sclerosis
#3
John R Bach, Neelam Upadhyaya
Although patients with lower motor neuron and myopathic disorders can prolong their lives by depending on continuous noninvasive ventilatory support, most patients with amyotrophic lateral sclerosis (ALS) cannot and must use tracheostomy mechanical ventilation to prolong survival. This case demonstrates that this occurs because amyotrophic lateral sclerosis patients' upper motor neuron reflex laryngeal closure and stridor cause upper airway collapse that renders mechanical insufflation-exsufflation (MIE) ineffective in expulsing airway secretions as well as for permitting continuous noninvasive ventilatory support...
April 13, 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28357410/phenotypes-genotypes-and-prevalence-of-congenital-myopathies-older-than-5-years-in-denmark
#4
Nanna Witting, Ulla Werlauff, Morten Duno, John Vissing
OBJECTIVE: Congenital myopathy as a nosologic entity has long been recognized, but knowledge of overall and subtype prevalence and phenotype-genotype relationship is scarce, especially in the adult population. METHODS: A national cohort of 107 patients ≥5 years diagnosed with congenital myopathy were prospectively assessed clinically, histologically, and genetically. RESULTS: Twenty-five patients were excluded because of atypical features or alternative etiologies...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28345801/zc4h2-deletions-can-cause-severe-phenotype-in-female-carriers
#5
Cristina Zanzottera, Donatella Milani, Enrico Alfei, Ambra Rizzo, Stefano D'Arrigo, Susanna Esposito, Chiara Pantaleoni
ZC4H2 is involved in human brain development, and, if mutated, can be responsible for a rare X-linked disorder, originally presented in literature as Wieacker-Wolff syndrome and Miles-Carpenter syndrome. In males, severe intellectual disability is associated with variable symptoms of central and peripheral nervous system involvement, such as spasticity, hyperreflexia, muscle weakness, and arthrogryposis. Female carriers are usually described as asymptomatic or only mildly affected. Here, we report on a girl carrying a de novo deletion of ZC4H2 detected by array-CGH analysis...
March 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28325813/aging-effects-of-caenorhabditis-elegans-ryanodine-receptor-variants-corresponding-to-human-myopathic-mutations
#6
Katie Nicoll Baines, Célia Ferreira, Philip M Hopkins, Marie-Anne Shaw, Ian A Hope
Delaying the decline in skeletal muscle function will be critical to better maintenance of an active life-style in old age. The skeletal muscle ryanodine receptor, the major intracellular membrane channel through which calcium ions pass to elicit muscle contraction, is central to calcium ion balance, and is hypothesized to be a significant factor for age-related decline in muscle function. The nematode Caenorhabditis elegans is a key model system for the study of human aging and strains with modified C. elegans ryanodine receptors corresponding to human myopathic variants linked with malignant hyperthermia and related conditions were generated...
March 21, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28295036/a-novel-recessive-ttn-founder-variant-is-a-common-cause-of-distal-myopathy-in-the-serbian-population
#7
Stojan Perić, Jelena Nikodinović Glumac, Ana Töpf, Dušanka Savić-Pavićević, Lauren Phillips, Katherine Johnson, Marcus Cassop-Thompson, Liwen Xu, Marta Bertoli, Monkol Lek, Daniel MacArthur, Miloš Brkušanin, Sanja Milenković, Vedrana Milić Rašić, Bojan Banko, Ružica Maksimović, Hanns Lochmüller, Vidosava Rakočević Stojanović, Volker Straub
Variants in the TTN gene have been associated with distal myopathies and other distinctive phenotypes involving skeletal and cardiac muscle. Through whole-exome sequencing we identified a novel stop-gain variant (c.107635C>T, p.(Gln35879Ter)) in the TTN gene, coding a part of the M-line of titin, in 14 patients with autosomal recessive distal myopathy and Serbian ancestry. All patients share a common 1 Mb core haplotype associated with c.107635C>T, suggesting a founder variant. In compound heterozygotes, nine other TTN variants were identified: four stop-gain, three frameshift, one missense and one splice donor variant...
May 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28292886/optical-probing-of-gastrocnemius-in-patients-with-peripheral-artery-disease-characterizes-myopathic-biochemical-alterations-and-correlates-with-stage-of-disease
#8
Ryan A Becker, Kim Cluff, Nithyanandhi Duraisamy, Hootan Mehraein, Hussam Farhoud, Tracie Collins, George P Casale, Iraklis I Pipinos, Jeyamkondan Subbiah
Peripheral artery disease (PAD) is a condition caused by atherosclerotic blockages in the arteries supplying the lower limbs and is characterized by ischemia of the leg, progressive myopathy, and increased risk of limb loss. The affected leg muscles undergo significant changes of their biochemistry and metabolism including variations in the levels of many key proteins, lipids, and nucleotides. The mechanisms behind these changes are poorly understood. The objective of this study was to correlate the severity of the PAD disease stage and associated hemodynamic limitation (determined by the ankle brachial index, ABI) in the legs of the patients with alterations in the biochemistry of chronically ischemic leg muscle as determined by ATR-Fourier transform infrared micro-spectroscopy...
March 2017: Physiological Reports
https://www.readbyqxmd.com/read/28269789/histopathologic-and-biochemical-evidence-for-mitochondrial-disease-among-279-patients-with-severe-statin-myopathy
#9
Tieying Hou, Yilan Li, Weiwei Chen, Reid R Heffner, Georgirene D Vladutiu
BACKGROUND: Statins have well-known benefits in the prevention of cardiovascular disease, however, 7-29% of patients develop muscle side effects and up to 0.5% develop severe symptoms. Mitochondrial dysfunction has been associated with severe statin-induced myopathy (SM); however, there is a paucity of systematic studies in affected individuals. OBJECTIVES: The goal of this study was to combine clinical and laboratory features with quantitative biochemical and histopathologic studies of skeletal muscle biopsies from SM cases to determine what proportion could be attributed to mitochondrial dysfunction and how many of these had primary respiratory chain defects...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28268051/distal-myopathy-with-adssl1-mutations-in-korean-patients
#10
Hyung Jun Park, Ha Young Shin, Sungjun Kim, Se Hoon Kim, Yunbeom Lee, Jung Hwan Lee, Ji-Man Hong, Seung Min Kim, Kee Duk Park, Byung-Ok Choi, Ji Hyun Lee, Young-Chul Choi
To understand the characteristics of ADSSL1 myopathy, we investigated the clinical manifestation in Korean patients with ADSSL1 mutations. We developed a targeted panel of 16 distal-myopathy genes and recruited a total of 12 patients with genetically undetermined distal myopathy. We found four (33%) with ADSSL1 mutations and one (8%) with GNE mutations. ADSSL1 mutations consisted of c.910G>A, c.1048delA and c.1220T>C mutations. Patients with ADSSL1 mutations demonstrated distal muscle weakness in adolescence, followed by quadriceps muscle weakness in the early 30s...
May 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28252410/a-density-based-clustering-approach-to-motor-unit-potential-characterizations-to-support-diagnosis-of-neuromuscular-disorders
#11
Tahereh Kamali, Daniel Stashuk
Electrophysiological muscle classification involves characterization of extracted motor unit potentials (MUPs) followed by the aggregation of these MUP characterizations. Existing techniques consider three classes (i.e., myopathic, neurogenic, and normal) for both MUP characterization and electrophysiological muscle classification. However, diseased induced MUP changes are continuous in nature, which make it difficult to find distinct boundaries between normal, myopathic and neurogenic MUPs. Hence, MUP characterization based on more than three classes is better able to represent the various effects of disease...
February 23, 2017: IEEE Transactions on Neural Systems and Rehabilitation Engineering
https://www.readbyqxmd.com/read/28245736/digital-flexor-musculotendinous-contracture-in-two-devon-rex-cats
#12
Leonie K Thom, Roy R Pool, Richard Malik
Clinical summary: A 13-year-old, spayed Devon Rex with unilateral digital flexor musculotendinous contracture of the forelimb was treated by surgical tenotomy. The condition improved transiently, but recurred rapidly and became bilateral. Histopathologic analysis of necropsy tissues resulted in a morphologic diagnosis of fibromyositis of the antebrachial muscles causing contracture and flexural deformity of the carpi and phalanges of both thoracic limbs. A search for similar cases yielded the clinical notes of a second cat, a 10-year-old, spayed Devon Rex, also with bilateral disease...
March 2017: Journal of Feline Medicine and Surgery
https://www.readbyqxmd.com/read/28210382/paraneoplastic-dermatomyositis-with-cutaneous-and-myopathic-disease-responsive-to-adrenocorticotropic-hormone-therapy
#13
Marisa Wolff, Christopher Mancuso, Karan Lal, Damian Dicostanzo, Charles Gropper
Dermatomyositis is a myopathic or amyopathic autoimmune connective tissue disease that presents with classic dermatologic findings ranging from: poikilodermatous photosensitivity (shawl sign), eyelid edema and violaceous-pigmentation (heliotrope sign), lichenoid eruptions on the knuckles and elbows (Gottron's sign), periungual telangiectasias, and ragged cuticles (Samitz sign). Up to 30 percent of adult-onset cases of dermatomyositis may represent a paraneoplastic syndrome warranting a thorough work-up for malignancy...
January 2017: Journal of Clinical and Aesthetic Dermatology
https://www.readbyqxmd.com/read/28209438/excessive-daytime-sleepiness-in-a-patient-with-coexisting-myotonic-dystrophy-type-1-myasthenia-gravis-and-graves-disease
#14
Katarzyna Kapica-Topczewska, Robert Pogorzelski, Joanna Tarasiuk, Wiesław Drozdowski, Piotr Lewczuk, Alina Kułakowska
A 41-year-old female with history of Graves' disease, bilateral cataract, paroxysmal atrial fibrillation was admitted because of muscle weakness, daytime sleepiness, fatigability, drowsiness, bilateral eyelid ptosis, descending of head and lower jaw. On neurological examination the patient was presented with muscle weakness, muscle atrophy (in face and sternocleidomastoid muscles), features of myotonia and apocamnosis (orbicular muscles). Electromyography revealed myopathic changes, myotonic and pseudomyotonic discharges, positive repetitive nerve stimulation test in proximal muscles...
February 3, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28187523/hyperckemia-and-myalgia-are-a-common-presentation-of-anoctamin-5-ano5-related-myopathy-in-french-patients
#15
Constantinos Papadopoulos, Pascal Laforêt, Juliette Nectoux, Tanya Stojkovic, Karim Wahbi, Robert-Yves Carlier, Pierre G Carlier, Sarah Leonard-Louis, France Leturcq, Norma Romero, Bruno Eymard, Anthony Behin
Introduction Patients with ANO5 mutations may present not only limb-girdle muscular dystrophy type 2L or adult-onset Miyoshi-type myopathy but also with asymptomatic hyperCKemia, exercise intolerance, or rhabdomyolysis. Materials/Methods Data from 38 in France with ANO5 mutations with and without muscle weakness on first examination were compared. Results Twenty patients presented without muscle weakness. Median age at symptom onset or discovery of hyperCKemia was 23 years. Creatine kinase (CK) levels ranged from 200 to 40,000 U/L...
February 10, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28164378/a-patient-with-a-novel-purine-rich-element-binding-protein-a-pura-mutation
#16
Nobuhiko Okamoto, Hideto Nakao, Tetsuya Niihori, Yoko Aoki
There have been several reports on 5q31.3 microdeletion syndrome. The overlapping deleted region includes purine-rich element binding protein A (PURA), which encodes transcriptional activator protein Pur-α. Patients with PURA mutations show moderate to severe neurodevelopmental delay and learning disability. Neonatal hypotonia, respiratory insufficiency, feeding difficulties, and seizures are often seen. Dysmorphic features including myopathic faces are helpful as clinical signs of the diagnosis. We report a patient with a novel PURA mutation detected by whole-exome sequencing...
February 6, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28108548/the-effect-of-left-ventricular-pacing-on-transmural-activation-delay-in-myopathic-human-hearts
#17
Andreu Porta-Sánchez, Paul Angaran, Stéphane Massé, Krishnakumar Nair, Talha Farid, Karthikeyan Umapathy, John Asta, Sigfus Gizurarson, Kumaraswamy Nanthakumar
AIMS: Left ventricular (LV) epicardial pacing (LVEpiP) in human myopathic hearts does not decrease global epicardial activation delay compared with right ventricular (RV) endocardial pacing (RVEndoP); however, the effect on transmural activation delay has not been evaluated. To characterize the transmural electrical activation delay in human myopathic hearts during RVEndoP and LVEpiP compared with global epicardial activation delay. METHODS AND RESULTS: Explanted hearts from seven patients (5 male, 46 ± 10 years) undergoing cardiac transplantation were Langendorff-perfused and mapped using an epicardial sock electrode array (112 electrodes) and 25 transmural plunge needles (four electrodes, 2 mm spacing), for a total of 100 unipolar transmural electrodes...
January 20, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28106121/endoplasmic-reticulum-oxidative-stress-triggers-tgf-beta-dependent-muscle-dysfunction-by-accelerating-ascorbic-acid-turnover
#18
Diego Pozzer, Mariagrazia Favellato, Marco Bolis, Roberto William Invernizzi, Francesca Solagna, Bert Blaauw, Ester Zito
Endoplasmic reticulum (ER) and oxidative stress are two related phenomena that have important metabolic consequences. As many skeletal muscle diseases are triggered by oxidative stress, we explored the chain of events linking a hyperoxidized ER (which causes ER and oxidative stress) with skeletal muscle dysfunction. An unbiased exon expression array showed that the combined genetic modulation of the two master ER redox proteins, selenoprotein N (SEPN1) and endoplasmic oxidoreductin 1 (ERO1), led to an SEPN1-related myopathic phenotype due to excessive signalling of transforming growth factor (TGF)-beta...
January 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28104788/myo18b-is-essential-for-sarcomere-assembly-in-fast-skeletal-muscle
#19
Joachim Berger, Silke Berger, Mei Li, Peter D Currie
Congenital myopathies are muscle degenerative disorders with a broad clinical spectrum. A number of myopathies have been associated with molecular defects within sarcomeres, the force-generating component of the muscle cell. Whereas the highly regular organization of the myofibril has been studied in detail, in vivo assembly of sarcomeres remains a poorly understood process. Therefore, a more detailed knowledge of sarcomere assembly is crucial to better understand the pathogenic mechanisms within myopathies...
March 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28070494/pure-myopathy-with-enlarged-mitochondria-associated-to-a-new-mutation-in-mtnd2-gene
#20
Alice Zanolini, Ana Potic, Franco Carrara, Eleonora Lamantea, Daria Diodato, Flavia Blasevich, Silvia Marchet, Marina Mora, Francesco Pallotti, Lucia Morandi, Massimo Zeviani, Costanza Lamperti
To date, only few mutations in the mitochondrial DNA (mtDNA)-encoded ND2 subunit of Complex I have been reported, usually presenting a severe phenotype characterized by early onset encephalomyopathy and early death. In this report, we describe a new mutation in the MTND2 gene in a 21-year-old man with a mild myopathic phenotype characterized by exercise intolerance and increased plasma lactate at rest. Electromyography and brain NMR were normal, and no cardiac involvement was present. Muscle biopsy showed a massive presence of ragged red - COX-positive fibres, with enlarged mitochondria containing osmiophilic inclusions...
March 2017: Molecular Genetics and Metabolism Reports
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