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https://www.readbyqxmd.com/read/27919547/granuloma-formation-in-a-patient-with-gne-myopathy-a-case-report
#1
Keiko Nakamura, Tsuyoshi Hamaguchi, Kenji Sakai, Daisuke Noto, Kenjiro Ono, Yukiko Hayashi, Ichizo Nishino, Masahito Yamada
We report a patient with GNE myopathy with a homozygous mutation (c.1505-4G>A) in GNE gene. The patient recognized progressive weakness of extremities at age 60. Neurological examination at age 65 revealed severe weakness and atrophy in the tibialis anterior muscles and distal predominant moderate weakness in the extremities. Muscle biopsy performed at age 65 showed myopathic changes with rimmed vacuoles, and the noteworthy finding was non-caseating epithelioid cell granuloma formation surrounded by numerous inflammatory cells...
November 18, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27896132/divergent-clinical-outcomes-of-alpha-glucosidase-enzyme-replacement-therapy-in-two-siblings-with-infantile-onset-pompe-disease-treated-in-the-symptomatic-or-pre-symptomatic-state
#2
Takashi Matsuoka, Yoshiyuki Miwa, Makiko Tajika, Madoka Sawada, Koichiro Fujimaki, Takashi Soga, Hideshi Tomita, Shigeru Uemura, Ichizo Nishino, Tokiko Fukuda, Hideo Sugie, Motomichi Kosuga, Torayuki Okuyama, Yoh Umeda
Pompe disease is an autosomal recessive, lysosomal glycogen storage disease caused by acid α-glucosidase deficiency. Infantile-onset Pompe disease (IOPD) is the most severe form and is characterized by cardiomyopathy, respiratory distress, hepatomegaly, and skeletal muscle weakness. Untreated, IOPD generally results in death within the first year of life. Enzyme replacement therapy (ERT) with recombinant human acid alpha glucosidase (rhGAA) has been shown to markedly improve the life expectancy of patients with IOPD...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27875946/the-role-of-sexual-dysfunction-and-infertility-on-reproductive-health-in-diabetics-pathogenesis-evaluation-and-management
#3
Jason Gandhi, Gautam Dagur, Kelly Warren, Noel Smith, Sardar Ali Khan
BACKGROUND: Uncontrolled or long-term diabetes mellitus is conducive to vascular and oxidative stress disturbances that impede several physiological systems, which may in turn elicit psychological symptoms. OBJECTIVE: We assess the sexual and hormonal complications of diabetes mellitus that impair reproductive function in males and females. METHOD: A comprehensive MEDLINE® search was guided using key words relevant to diabetes mellitus and reproductive health...
November 22, 2016: Current Diabetes Reviews
https://www.readbyqxmd.com/read/27875899/amelioration-of-energy-metabolism-by-melatonin-in-skeletal-muscle-of-rats-with-lps-induced-endotoxemia
#4
E Ozkok, H Yorulmaz, G Ates, A Aksu, N Balkis, Ö Şahin, S Tamer
In the literature, few studies have investigated the effects of melatonin on energy metabolism in skeletal muscle in endotoxemia. We investigated the effects of melatonin on tissue structure, energy metabolism in skeletal muscle, and antioxidant level of rats with endotoxemia. We divided rats into 4 groups, control, lipopolysaccharide (LPS) (20 mg/kg, i.p., single dose), melatonin (10 mg/kg, i.p., three times), and melatonin + LPS. Melatonin was injected i.p. 30 min before and after the 2nd and 4th hours of LPS injection...
November 23, 2016: Physiological Research
https://www.readbyqxmd.com/read/27863379/targeted-next-generation-sequencing-identifies-two-novel-mutations-in-sepn1-in-rigid-spine-muscular-dystrophy-1
#5
Yi Dai, Shengran Liang, Yan Huang, Lin Chen, Santasree Banerjee
Rigid spine muscular dystrophy 1 (RSMD1) is a neuromuscular disorder, manifested with poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity with an early ventilatory insufficiency which can lead to death by respiratory failure. Mutations of SEPN1 gene are associated with autosomal recessive RSMD1. Here, we present a clinical molecular study of a Chinese proband with RSMD1. The proband is a 17 years old male, showing difficulty in feeding, delayed motor response, problem in running with frequent fall down, early onset respiratory insufficiency, general muscle weakness and rigid cervical spine...
November 14, 2016: Oncotarget
https://www.readbyqxmd.com/read/27837354/congenital-cranial-dysinnervation-disorders
#6
REVIEW
Anupam Singh, P K Pandey, Ajai Agrawal, Sanjeev Kumar Mittal, Kartik Maheshbhai Rana, Chirag Bahuguna
The European Neuromuscular Centre (ENMC) derived the term Congenital Cranial Dysinnervation Disorders in 2002 at an international workshop for a group of congenital neuromuscular diseases. CCDDs are congenital, non-progressive ophthalmoplegia with restriction of globe movement in one or more fields of gaze. This group of sporadic and familial strabismus syndromes was initially referred to as the 'congenital fibrosis syndromes' because it was assumed that the primary pathologic process starts in the muscles of eye motility...
November 11, 2016: International Ophthalmology
https://www.readbyqxmd.com/read/27830184/novel-hspb1-mutation-causes-both-motor-neuronopathy-and-distal-myopathy
#7
D J Lewis-Smith, J Duff, A Pyle, H Griffin, T Polvikoski, D Birchall, R Horvath, P F Chinnery
OBJECTIVE: To identify the cause of isolated distal weakness in a family with both neuropathic and myopathic features on EMG and muscle histology. METHODS: Case study with exome sequencing in 2 affected individuals, bioinformatic prioritization of genetic variants, and segregation analysis of the likely causal mutation. Functional studies included Western blot analysis of the candidate protein before and after heat shock treatment of primary skin fibroblasts. RESULTS: A novel HSPB1 variant (c...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27816333/ischemic-stroke-due-to-hypoperfusion-in-a-patient-with-a-previously-unrecognized-danon-disease
#8
Marco Marino, Olimpia Musumeci, Giuseppe Paleologo, Maria Cucinotta, Alba Migliorato, Carmelo Rodolico, Antonio Toscano
Danon disease, an X-linked multisystemic disorder, is due to deficiency of Lysosome-Associated Membrane Protein 2 (LAMP2). It is usually characterized by hypertrophic cardiomyopathy, mental retardation and skeletal myopathy, sometimes also with atypical features. A 20-year-old man with cognitive impairment was admitted to the Emergency Room because of a sudden chest pain. ECG showed Wolff-Parkinson-White syndrome; echocardiography revealed hypertrophic cardiomyopathy, and, shortly after, he experienced a cardiac arrest followed by an occipital ischemic stroke...
October 5, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27815113/rosuvastatin-safety-an-experimental-study-of-myotoxic-effects-and-mitochondrial-alterations-in-rats
#9
Samar O El-Ganainy, Ahmed El-Mallah, Dina Abdallah, Mahmoud M Khattab, Mahmoud M Mohy El-Din, Aiman S El-Khatib
Myopathy is the most commonly reported adverse effect of statins. All statins are associated with myopathy, though with different rates. Rosuvastatin is a potent statin reported to induce myopathy comparable to earlier statins. However, in clinical practice most patients could tolerate rosuvastatin over other statins. This study aimed to evaluate the myopathic pattern of rosuvastatin in rats using biochemical, functional and histopathological examinations. The possible deleterious effects of rosuvastatin on muscle mitochondria were also examined...
November 1, 2016: Toxicology Letters
https://www.readbyqxmd.com/read/27790792/als-associated-endoplasmic-reticulum-proteins-in-denervated-skeletal-muscle-implications-for-motor-neuron-disease-pathology
#10
C M Jesse, E Bushuven, P Tripathi, A Chandrasekar, C M Simon, C Drepper, A Yamoah, A Dreser, I Katona, S Johann, C Beyer, S Wagner, M Grond, S Nikolin, J Anink, D Troost, M Sendtner, A Goswami, J Weis
Alpha-motoneurons and muscle fibers are structurally and functionally interdependent. Both cell types particularly rely on endoplasmic reticulum (ER/SR) functions. Mutations of the ER proteins VAPB, SigR1 and HSP27 lead to hereditary motor neuron diseases (MNDs). Here, we determined the expression profile and localization of these ER proteins/chaperons by immunohistochemistry and immunoblotting in biopsy and autopsy muscle tissue of patients with amyotrophic lateral sclerosis (ALS) and other neurogenic muscular atrophies (NMAs) and compared these patterns to mouse models of neurogenic muscular atrophy...
October 28, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27785400/sarcolemmal-deficiency-of-sarcoglycan-complex-in-an-18-month-old-turkish-boy-with-a-large-deletion-in-the-beta-sarcoglycan-gene
#11
G Diniz, H Tekgul, F Hazan, K Yararbas, A Tukun
Limb-girdle muscular dystrophy type 2E (LGMD-2E) is caused by autosomal recessive defects in the beta sarcoglycan (SGCB) gene located on chromosome 4q12. In this case report, the clinical findings, histopathological features and molecular genetic data in a boy with β sarcoglycanopathy are presented. An 18-month-old boy had a very high serum creatinine phosphokinase (CPK) level that was accidentally determined. The results of molecular analyses for the dystrophin gene was found to be normal. He underwent a muscle biopsy which showed dystrophic features...
December 1, 2015: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/27754251/os-36-02-astragaloside-iv-ameliorated-mitochondrial-oxidative-stress-in-hypertensive-mice-with-cardiomyopathy-by-regulating-mitochondrial-ca2-flux
#12
Qiongying Wang, An Xie, Han Xu, Jing Yu
OBJECTIVE: Abnormal Ca handling is thought to be related with triggered activity and mitochondria participate in Ca homeostasis. We evaluated the contribution of Astragaloside IV (ASI) for mitochondrial ROS and Ca Flux to cardiac function by using DOCA-salt hypertensive mice. DESIGN AND METHOD: We used the deoxycorticosterone acetate (DOCA)-salt mouse model. The ventricular myocytes isolated from mice was utilized for action potentials (APs) recording, potassium and L-type Ca currents...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27739254/the-caveolin-3-g56s-sequence-variant-of-unknown-significance-muscle-biopsy-findings-and-functional-cell-biological-analysis
#13
Eva Brauers, Andreas Roos, Laxmikanth Kollipara, René P Zahedi, Alf Beckmann, Nilane Mohanadas, Hartmut Bauer, Martin Häusler, Stéphanie Thoma, Wolfram Kress, Jan Senderek, Joachim Weis
In the era of next generation sequencing, we are increasingly confronted with sequence variants of unknown significance. Here, we focus on three patients carrying the sequence variant G56S in Caveolin-3 who presented with mild to moderate necrotizing myopathy and on the result of a controversial recent large scale analyses revealing that G56S is present at a frequency of around 10 % in the African population. Therefore, aim of our combined investigations was to address this discrepancy by morphological and biochemical studies...
October 14, 2016: Proteomics. Clinical Applications
https://www.readbyqxmd.com/read/27738507/neurogenic-muscle-hypertrophy-a-case-report
#14
Hyun Ho Shin, Young Hoon Jeon, Seung Won Jang, Sae Young Kim
Muscular hypertrophy is caused mainly due to myopathic disorder. But, it is also rarely produced by neurogenic disorder. A 74-year-old woman complained of right calf pain with hypertrophy for several years. Recent lumbar spine magnetic resonance imaging (MRI) showed central and lateral canal narrowing at the L4-L5 intervertebral space. Lower extremity MRI revealed fatty change of right medial head of the gastrocnemius and soleus, causing right calf hypertrophy. Electrodiagnostic examinations including electromyography and nerve conduction velocity testing demonstrated 5(th) lumbar and 1(st) sacral polyradiculopathy...
October 2016: Korean Journal of Pain
https://www.readbyqxmd.com/read/27735149/clinical-and-aetiological-spectrum-of-hypokalemic-flaccid-paralysis-in-western-odisha
#15
Biranchi Narayan Mohapatra, Sujit Kumar Lenka, Manoranjan Acharya, Chakradhar Majhi, Gouri Oram, Khetra Mohan Tudu
OBJECTIVE: To study the clinical profile of hypokalemic flaccid paralysis (HKFP) and to evaluate its causes. METHODS: Fifty cases of hypokalemic flaccid paralysis (HKFP) admitted between November 2012 to October 2014 were taken up in the study. Serum potassium level < 3.5 mmol/ltr has been taken as hypokalemia. All cases were studied for spot and/or 24 hour urinary sodium / potassium, serum potassium / calcium / magnesium. Hypokalemic periodic paralysis (HPP) were diagnosed if there was spot/24 hour urine potassium excretion < 20mmol/ltr in presence of hypokalemia and flaccid weakness without other causes...
May 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27726926/focal-myositis-a-review
#16
P Devic, L Gallay, N Streichenberger, P Petiot
Amongst the heterogeneous group of inflammatory myopathies, focal myositis (FM) stands as a rare and benign dysimmune disease. Although FM can be associated with root and/or nerve lesions, traumatic muscle lesions and autoimmune diseases, its triggering factors remain poorly understood. Defined as an isolated inflammatory pseudotumour usually restricted to one skeletal muscle, clinical presentation of FM is that of a rapidly growing solitary mass within a single muscle, usually in the lower limbs. Electromyography shows spontaneous activity associated with a myopathic pattern...
August 26, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27725122/immune-mediated-rippling-muscle-disease-and-myasthenia-gravis
#17
Mariela Bettini, Hernan Gonorazky, Marcelo Chaves, Ernesto Fulgenzi, Alejandra Figueredo, Silvia Christiansen, Edgardo Cristiano, Enrico S Bertini, Marcelo Rugiero
Cases of acquired rippling muscle disease in association with myasthenia gravis have been reported. We present three patients with iRMD (immune-mediated rippling muscle disease) and AChR-antibody positive myasthenia gravis. None of them had thymus pathology. They presented exercise-induced muscle rippling combined with generalized myasthenia gravis. One of them had muscle biopsy showing a myopathic pattern and a patchy immunostaining with caveolin antibodies. They were successfully treated steroids and azathioprine...
October 15, 2016: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/27722793/outcome-and-prognostic-factors-in-a-french-cohort-of-patients-with-myositis-associated-interstitial-lung-disease
#18
Julie Obert, Olivia Freynet, Hilario Nunes, Pierre-Yves Brillet, Makoto Miyara, Robin Dhote, Dominique Valeyre, Jean-Marc Naccache
Interstitial lung disease (ILD) is a common form of extramuscular involvement in patients with polymyositis/dermatomyositis and is associated with poor prognosis. This study was designed to describe the long-term outcome of myositis-associated ILD. This retrospective observational study was conducted in 48 consecutive patients. Two groups defined according to outcome were compared to determine prognostic factors: a "severe" group (vital capacity [VC] < 50 % or carbon monoxide transfer factor [TLCO] < 35 % or death or lung transplantation) and a "nonsevere" group (other patients)...
October 8, 2016: Rheumatology International
https://www.readbyqxmd.com/read/27716924/electrophysiological-activity-of-the-pharyngoesophageal-transition-of-total-laryngectomees
#19
Telma K Takeshita-Monaretti, Lílian Aguiar-Ricz, Patrícia Bastos, Wilson Marques, Hilton Ricz
OBJECTIVES/HYPOTHESIS: To determine the association of the electrophysiological activity of the pharyngoesophageal transition with tracheoesophageal speech proficiency in total laryngectomees. STUDY DESIGN: An observational (nonexperimental) study of the correlation type with a descriptive approach. METHODS: Thirty-four individuals (26 males), average age 62.5 years, total laryngectomees rehabilitated with the use of a tracheoesophageal prosthesis, were assessed for tracheoesophageal speech proficiency using an adapted protocol and classified as good, moderate, or poor speakers...
September 26, 2016: Laryngoscope
https://www.readbyqxmd.com/read/27697312/myopathy-in-childhood-muscle-specific-kinase-myasthenia-gravis
#20
Lukas Kirzinger, Andrei Khomenko, Wilhelm Schulte-Mattler, Roland Backhaus, Sabine Platen, Berthold Schalke
BACKGROUND: Adult and pediatric patients suffering from MuSK (muscle-specific kinase) -antibody positive myasthenia gravis exhibit similar features to individuals with acetylcholine receptor (AChR) antibodies, but they differ in several characteristics such as a predominant bulbar, respiratory and neck weakness, a generally worse disease severity and a tendency to develop muscle atrophy. Muscle atrophy is a rare phenomenon that is usually restricted to the facial muscles. RESULTS: We describe a girl with MuSK-antibody positive myasthenia gravis who developed a myopathy with severe generalized muscular weakness, muscle atrophy, and myopathic changes on electromyography...
December 2016: Pediatric Neurology
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