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https://www.readbyqxmd.com/read/29774307/bethlem-myopathy-in-a-portuguese-patient-case-report
#1
Ana Inês Martins, Cristin Maarque, Jorge Pinto-Basto, Luis Negrão
Mutations of the encoding genes of collagen VI (COL6A1, COL6A2 and COL6A3 ), are responsible for two classical phenotypes (with a wide range of severity), the Ullrich congenital muscular dystrophy (UCMD) and the Bethlem myopathy (BM). We present a male patient of 49 years old, with symptoms of muscle weakness beginning in childhood and of very slowly progression. At the age of 42, the neurological examination revealed proximal lower limb muscle weakness and contractures of fingers flexors muscles, positive Gowers manoeuvre and a waddling gait...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29759638/a-new-case-of-limb-girdle-muscular-dystrophy-2g-in-a-greek-patient-founder-effect-and-review-of-the-literature
#2
Roberta Brusa, Francesca Magri, Dimitra Papadimitriou, Alessandra Govoni, Roberto Del Bo, Patrizia Ciscato, Marco Savarese, Claudia Cinnante, Maggie C Walter, Angela Abicht, Stefanie Bulst, Stefania Corti, Maurizio Moggio, Nereo Bresolin, Vincenzo Nigro, Giacomo Pietro Comi
Limb girdle muscular dystrophy (LGMD) type 2G is a rare form of muscle disease, described only in a few patients worldwide, caused by mutations in TCAP gene, encoding the protein telethonin. It is characterised by proximal limb muscle weakness associated with distal involvement of lower limbs, starting in the first or second decade of life. We describe the case of a 37-year-old woman of Greek origin, affected by disto-proximal lower limb weakness. No cardiac or respiratory involvement was detected. Muscle biopsy showed myopathic changes with type I fibre hypotrophy, cytoplasmic vacuoles, lipid overload, multiple central nuclei and fibre splittings; ultrastructural examination showed metabolic abnormalities...
April 13, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29750060/fascial-preadipocytes-another-missing-piece-of-the-puzzle-to-understand-fibromyalgia
#3
Bruno Bordoni, Fabiola Marelli, Bruno Morabito, Francesca Cavallaro, David Lintonbon
Fibromyalgia (FM) syndrome is a chronic condition causing pain, affecting approximately 0.5%-6% of the developed countries' population, and on average, 2% of the worldwide population. Despite the large amount of scientific literature available, the FM etiology is still uncertain. The diagnosis is based on the clinical presentation and the severity of the symptomatology. Several studies pointed out pathological alterations within the central nervous system, suggesting that FM could originate from a central sensitization of the pain processing centers...
2018: Open Access Rheumatology: Research and Reviews
https://www.readbyqxmd.com/read/29735374/clinical-and-molecular-spectrum-of-thymidine-kinase-2-related-mtdna-maintenance-defect
#4
Julia Wang, Emily Kim, Honzheng Dai, Vikki Stefans, Hannes Vogel, Fatma Al Jasmi, Samantha A Schrier Vergano, Diana Castro, Saunder Bernes, Vikas Bhambhani, Catherine Long, Ayman W El-Hattab, Lee-Jun Wong
Mitochondrial DNA maintenance (mtDNA) defects have a wide range of causes, each with a set of phenotypes that overlap with many other neurological or muscular diseases. Clinicians face the challenge of narrowing down a long list of differential diagnosis when encountered with non-specific neuromuscular symptoms. Biallelic pathogenic variants in the Thymidine Kinase 2 (TK2) gene cause a myopathic form of mitochondrial DNA maintenance defect. Since the first description in 2001, there have been 71 patients reported with 42 unique pathogenic variants...
April 28, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29731937/carnitine-palmitoyltransferase-ii-deficiency-cpt-ii-followed-by-rhabdomyolysis-and-acute-kidney-injury
#5
Nikola Gjorgjievski, Pavlina Dzekova-Vidimliski, Zvezdana Petronijevic, Gjulsen Selim, Petar Dejanov, Liljana Tozija, Aleksandar Sikole
BACKGROUND: Carnitine palmitoyltransferase II deficiency (CPT II) is an autosomal recessive disorder and the most common inherited disorder of mitochondrial long-chain fatty acid oxidation, characterised by attacks of myalgia and myoglobinuria. The most common "classic" myopathic form occurs in young adults and is characterised by recurrent episodes of rhabdomyolysis triggered by prolonged exercise, fasting or febrile illness. CASE PRESENTATION: We present a case of a 22-year-old Caucasian male admitted to our hospital with fever, dyspnea, fatigue, myalgia and dark urine (brown-coloured)...
April 15, 2018: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29710025/-a-survivor-of-hodgkin-lymphoma-manifesting-dropped-head-syndrome-as-a-late-onset-complication-of-radiotherapy-a-case-report
#6
Misako Kaido, Yoshihito Yuasa, Hiroshi Ikeda
We report the case of a 50-year-old female survivor of Hodgkin lymphoma (HL), who developed dropped head syndrome (DHS). The patient was diagnosed with HL at 20 years of age, and underwent chemo-radiotherapy, which led to complete remission. Undergoing supplemental therapy for post-radiation hypothyroidism, she had twin babies. She noticed white stains on her neck at the age of 30, and the decolored area gradually expanded. Sixteen years after the radiotherapy (RT), her posterior neck muscle strength began to decline...
April 28, 2018: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29690886/loss-of-alpha-smooth-muscle-actin-expression-associated-with-chronic-intestinal-pseudo-obstruction-in-a-young-miniature-bull-terrier
#7
Gian Enrico Magi, Francesca Mariotti, Sara Berardi, Andrea Piccinini, Cecilia Vullo, Angela Palumbo Piccionello, Giacomo Rossi
BACKGROUND: Chronic intestinal pseudo-obstruction (CIPO) is a rare clinical syndrome in veterinary medicine characterized by severe intestinal dysmotility without evidence of mechanical occlusion of the intestinal lumen. The exact pathogenesis of CIPO is unknown. CASE PRESENTATION: A 1-year-old male Miniature Bull Terrier dog was presented with a history of chronic weight loss, regurgitation, lethargy, vomiting and diarrhea. The dog was submitted for exploratory laparotomy...
April 24, 2018: Acta Veterinaria Scandinavica
https://www.readbyqxmd.com/read/29685414/a-novel-capn3-mutation-in-late-onset-limb-girdle-muscular-dystrophy-with-early-respiratory-insufficiency
#8
Jennifer M Martinez-Thompson, Steven A Moore, Teerin Liewluck
We describe a 70 year-old independently ambulatory man with a 10-year history of progressive axial and limb-girdle weakness, hyperCKemia, and a 5-year history of dyspnea requiring nocturnal ventilatory support due to a known c.1309C>T (p.Arg437Cys) variant and a novel in-frame deletion of exons 17-19 in the calpain-3 encoding gene (CAPN3). Pulmonary function tests revealed neuromuscular respiratory weakness. Biceps femoris biopsy showed chronic myopathic changes, numerous lobulated fibers, and reduced calpain-3 immunoreactivity...
April 20, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29651353/a-rare-case-of-systemic-al-amyloidosis-with-muscle-involvement-a-misleading-diagnosis
#9
Fabrizio Accardi, Valentina Papa, Anna Rita Capozzi, Gian Luca Capello, Laura Verga, Cristina Mancini, Eugenia Martella, Roberta Costa, Laura Notarfranchi, Benedetta Dalla Palma, Franco Aversa, Vladimiro Pietrini, Giovanna Cenacchi, Nicola Giuliani
Muscle involvement in AL amyloidosis is a rare condition, and the diagnosis of amyloid myopathy is often delayed and underdiagnosed. Amyloid myopathy may be the initial manifestation and may precede the diagnosis of systemic AL amyloidosis. Here, we report the case of a 73-year-old man who was referred to our center for a monoclonal gammopathy of undetermined significance (MGUS) diagnosed since 1999. He reported a progressive weakness of proximal muscles of the legs with onset six months previously. Muscle biopsy showed mild histopathology featuring alterations of nonspecific type with a mixed myopathic and neurogenic involvement, and the diagnostic turning point was the demonstration of characteristic green birefringence under cross-polarized light following Congo red staining of perimysial vessels...
2018: Case Reports in Hematology
https://www.readbyqxmd.com/read/29649769/sliding-window-averaging-in-normal-and-pathological-motor-unit-action-potential-trains
#10
Armando Malanda-Trigueros, Javier Navallas, Javier Rodriguez-Falces, Ignacio Rodriguez-Carreño, Sonia Porta, Miguel Fernández-Martínez, Luis Gila
OBJECTIVE: To evaluate the performance of a recently proposed motor unit action potential (MUAP) averaging method based on a sliding window, and compare it with relevant published methods in normal and pathological muscles. METHODS: Three versions of the method (with different window lengths) were compared to three relevant published methods in terms of signal analysis-based merit figures and MUAP waveform parameters used in the clinical practice. 218 MUAP trains recorded from normal, myopathic, subacute neurogenic and chronic neurogenic muscles were analysed...
March 19, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29629541/clinical-and-pathologic-findings-of-korean-patients-with-ryr1-related-congenital-myopathy
#11
Ha Neul Jeong, Hyung Jun Park, Jung Hwan Lee, Ha Young Shin, Se Hoon Kim, Seung Min Kim, Young Chul Choi
BACKGROUND AND PURPOSE: This study was designed to investigate clinical and pathologic characteristics of five Korean patients with RYR1-related congenital myopathy (CM). METHODS: Five patients from unrelated families were diagnosed with RYR1-related CM via direct or targeted sequencing of RYR1. Their clinical, mutational, and pathologic findings were then analyzed. RESULTS: Seven different mutations were identified, including two novel mutations: c...
January 2018: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/29627768/mitochondrial-ca-2-influx-contributes-to-arrhythmic-risk-in-nonischemic-cardiomyopathy
#12
An Xie, Zhen Song, Hong Liu, Anyu Zhou, Guangbin Shi, Qiongying Wang, Lianzhi Gu, Man Liu, Lai-Hua Xie, Zhilin Qu, Samuel C Dudley
BACKGROUND: Heart failure (HF) is associated with increased arrhythmia risk and triggered activity. Abnormal Ca2+ handling is thought to underlie triggered activity, and mitochondria participate in Ca2+ homeostasis. METHODS AND RESULTS: A model of nonischemic HF was induced in C57BL/6 mice by hypertension. Computer simulations were performed using a mouse ventricular myocyte model of HF. Isoproterenol-induced premature ventricular contractions and ventricular fibrillation were more prevalent in nonischemic HF mice than sham controls...
April 7, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29623846/immune-mediated-necrotizing-myopathy-where-do-we-stand
#13
Abdel Gaffar A Mohammed, Ayanda Gcelu, Farzana Moosajee, Stella Botha, Ali Asgar Kalla
Immune-mediated necrotizing myopathies (IMNMs) are a group of acquired autoimmune muscle disorders that have been recently defined. They are characterized by proximal muscle weakness, high levels of creatinine kinase, and myopathic findings on electromyogram (EMG). Muscle biopsy in IMNM differentiates it from the other subgroups of idiopathic inflammatory myositis (IIM) by the presence of myofibre necrosis and prominent regeneration without substantial lymphocytic inflammatory infiltrates. Anti-signal recognition particle (SRP) and anti-3hydroxy-3 methylglutaryl-coenzyme A reductase (HMGCR) autoantibodies were found in two thirds of IMNM patients...
April 5, 2018: Current Rheumatology Reviews
https://www.readbyqxmd.com/read/29593477/novel-nonsense-mutation-in-slc39a13-initially-presenting-as-myopathy-case-report-and-review-of-the-literature
#14
Maja Dusanic, Gabriele Dekomien, Thomas Lücke, Matthias Vorgerd, Joachim Weis, Joerg T Epplen, Cornelia Köhler, Sabine Hoffjan
Myopathies comprise a heterogeneous group of disorders characterized by variable phenotypes. The increasing use of next-generation sequencing allows identification of the causative genes in a much higher percentage of patients with hereditary muscle disorders and also illustrates a considerable degree of overlap with other clinical entities, including connective tissue disorders. Here, we present a 14-year-old German patient who was initially suspected to suffer from myopathy based on his clinical, radiological, and muscle biopsy findings...
February 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29577809/spectrum-of-neuromuscular-disorders-with-hyperckemia-from-a-tertiary-care-pediatric-neuromuscular-center
#15
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/29575654/spermidine-promotes-nucleus-pulposus-autophagy-as-a-protective-mechanism-against-apoptosis-and-ameliorates-disc-degeneration
#16
Zengming Zheng, Zhou-Guang Wang, Yu Chen, Jian Chen, Sinan Khor, Jiawei Li, Zili He, Qingqing Wang, Hongyu Zhang, Ke Xu, Gong Fanghua, Jian Xiao, Xiangyang Wang
Spermidine has therapeutic effects in many diseases including as heart diastolic function, myopathic defects and neurodegenerative disorders via autophagy activation. Autophagy has been found to mitigate cell apoptosis in intervertebral disc degeneration (IDD). Accordingly, we theorize that spermidine may have beneficial effects on IDD via autophagy stimulation. In this study, spermidine's effect on IDD was evaluated in tert-butyl hydroperoxide (TBHP)-treated nucleus pulposus cells of SD rats in vitro as well as in a puncture-induced rat IDD model...
March 25, 2018: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29567349/whole-exome-sequencing-discloses-a-pathogenic-mtm1-gene-mutation-and-ends-the-diagnostic-odyssey-in-an-older-woman-with-a-progressive-and-seemingly-sporadic-myopathy-case-report-and-literature-review-of-mtm1-manifesting-female-carriers
#17
Kevin J Felice, Charles H Whitaker, Qian Wu
We report the case of a 58-year-old woman with a progressive and seemingly sporadic myopathy who, later through whole exome sequencing, was diagnosed as a manifesting carrier of a myotubularin 1 gene mutation (c.342_342 + 4delAGTAA). As the case was a diagnostic challenge for 7 years, we thought it would be helpful to report the patient and review the other 25 cases thus far described. The manifesting carrier state is a rare cause for myopathic weakness in a female but should be strongly considered in kindreds with known affected males with myotubularin 1 gene mutations, and families with history of gestational polyhydramnios or male infantile death...
February 8, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29566247/increased-polyamines-as-protective-disease-modifiers-in-congenital-muscular-dystrophy
#18
D U Kemaladewi, J S Benjamin, E Hyatt, E A Ivakine, R D Cohn
Most Mendelian disorders, including neuromuscular disorders, display extensive clinical heterogeneity that cannot be solely explained by primary genetic mutations. This phenotypic variability is largely attributed to the presence of disease modifiers, which can exacerbate or lessen the severity and progression of the disease.LAMA2-deficient Congenital Muscular Dystrophy (LAMA2-CMD) is a fatal degenerative muscle disease resulting from mutations in the LAMA2 gene encoding Laminin-α2. Progressive muscle weakness is predominantly observed in the lower limbs in LAMA2-CMD patients, whereas upper limbs muscles are significantly less affected...
March 15, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29552494/open-label-clinical-trial-of-bezafibrate-treatment-in-patients-with-fatty-acid-oxidation-disorders-in-japan
#19
Kenji Yamada, Hideaki Shiraishi, Eishin Oki, Mika Ishige, Toshiyuki Fukao, Yusuke Hamada, Norio Sakai, Fumihiro Ochi, Asami Watanabe, Sanae Kawakami, Kazuyo Kuzume, Kenji Watanabe, Koji Sameshima, Kiyotaka Nakamagoe, Akira Tamaoka, Naoko Asahina, Saki Yokoshiki, Takashi Miyakoshi, Kota Ono, Koji Oba, Toshiyuki Isoe, Hiroshi Hayashi, Seiji Yamaguchi, Norihiro Sato
Introduction: Fatty acid oxidation disorders (FAODs) are rare diseases caused by defects in mitochondrial fatty acid oxidation (FAO) enzymes. While the efficacy of bezafibrate, a peroxisome proliferator-activated receptor agonist, on the in vitro FAO capacity has been reported, the in vivo efficacy remains controversial. Therefore, we conducted a clinical trial of bezafibrate in Japanese patients with FAODs. Materials and methods: This trial was an open-label, non-randomized, and multicenter study of bezafibrate treatment in 6 patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency and 2 patients with carnitine palmitoyltransferase-II (CPT-2) deficiency (median age, 8...
June 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29515464/localization-and-expression-of-nuclear-factor-of-activated-t-cells-5-in-myoblasts-exposed-to-pro-inflammatory-cytokines-or-hyperosmolar-stress-and-in-biopsies-from-myositis-patients
#20
Sandrine Herbelet, Elly De Vlieghere, Amanda Gonçalves, Boel De Paepe, Karsten Schmidt, Eline Nys, Laurens Weynants, Joachim Weis, Gert Van Peer, Jo Vandesompele, Jens Schmidt, Olivier De Wever, Jan L De Bleecker
Aims: Regeneration in skeletal muscle relies on regulated myoblast migration and differentiation, in which the transcription factor nuclear factor of activated T-cells 5 (NFAT5) participates. Impaired muscle regeneration and chronic inflammation are prevalent in myositis. Little is known about the impact of inflammation on NFAT5 localization and expression in this group of diseases. The goal of this study was to investigate NFAT5 physiology in unaffected myoblasts exposed to cytokine or hyperosmolar stress and in myositis...
2018: Frontiers in Physiology
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