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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
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
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
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
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
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
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
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
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...
August 20, 2016: Pediatric Neurology
E C McKenzie, L V Eyrich, M E Payton, S J Valberg
A previous report suggests a substantial incidence of exertional rhabdomyolysis (ER) in Arabian horses performing endurance racing. This study compared formalin histopathology and clinical and metabolic responses to a standardised field exercise test (SET) between Arabians with and without ER. Arabian horses with (n = 10; age 15.4 ± 5.6 years) and without (n = 9; 12.9 ± 6.1 years) prior ER were stall-rested for 24-48 h, after which paired ER and control horses were fitted with a telemetric ECG and performed a 47 min submaximal SET...
October 2016: Veterinary Journal
Janelle Geist, Aikaterini Kontrogianni-Konstantopoulos
Myosin Binding Protein-C (MyBP-C) comprises a family of accessory proteins that includes the cardiac, slow skeletal, and fast skeletal isoforms. The three isoforms share structural and sequence homology, and localize at the C-zone of the sarcomeric A-band where they interact with thick and thin filaments to regulate the cycling of actomyosin crossbridges. The cardiac isoform, encoded by MYBPC3, has been extensively studied over the last several decades due to its high mutational rate in congenital hypertrophic and dilated cardiomyopathy...
2016: Frontiers in Physiology
Bo Bao, Rika Maruyama, Toshifumi Yokota
Facioscapulohumeral muscular dystrophy (FSHD) is an inherited autosomal dominant disorder characterized clinically by progressive muscle degeneration. Currently, no curative treatment for this disorder exists. FSHD patients are managed through physiotherapy to improve function and quality of life. Over the last two decades, FSHD has been better understood as a disease genetically characterized by a pathogenic contraction of a subset of macrosatellite repeats on chromosome 4. Specifically, several studies support an FSHD pathogenesis model involving the aberrant expression of the double homeobox protein 4 (DUX4) gene...
August 2016: Intractable & Rare Diseases Research
Dorota Monies, Hindi N Alhindi, Mohamed A Almuhaizea, Mohamed Abouelhoda, Anas M Alazami, Ewa Goljan, Banan Alyounes, Dyala Jaroudi, Abdulelah AlIssa, Khalid Alabdulrahman, Shazia Subhani, Mohamed El-Kalioby, Tariq Faquih, Salma M Wakil, Nada A Altassan, Brian F Meyer, Saeed Bohlega
BACKGROUND: Fifty random genetically unstudied families (limb-girdle muscular dystrophy (LGMD)/myopathy) were screened with a gene panel incorporating 759 OMIM genes associated with neurological disorders. Average coverage of the CDS and 10 bp flanking regions of genes was 99 %. All families were referred to the Neurosciences Clinic of King Faisal Specialist Hospital and Research Centre, Saudi Arabia. Patients presented with muscle weakness affecting the pelvic and shoulder girdle. Muscle biopsy in all cases showed dystrophic or myopathic changes...
September 27, 2016: Human Genomics
Edith Pérez de Arce, Glauben Landskron, Sandra Hirsch, Carlos Defilippi, Ana María Madrid
Background/Aims: Chronic intestinal pseudo-obstruction (CIPO) is a rare syndrome characterized by a failure of the propulsion of intraluminal content and recurrent symptoms of partial bowel obstruction in the absence of mechanical obstruction. Regional variations of the intestinal compromise have been described. Intestinal manometry can indicate the pathophysiology and prognosis. Our objective is to establish the demographic and clinical characteristics of group Chilean patients and analyze the motility of the small intestine and its prognostic value...
September 26, 2016: Journal of Neurogastroenterology and Motility
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
Atsushi Shima, Tetsuhiko Yasuno, Kenji Yamada, Miyoko Yamaguchi, Ryuichi Kohno, Seiji Yamaguchi, Hiroshi Kido, Hidetoshi Fukuda
Carnitine palmitoyltransferase II (CPT II) deficiency is a rare inherited disorder related to recurrent episodes of rhabdomyolysis. The adult myopathic form of CPT II deficiency is relatively benign and difficult to diagnose. The point mutation S113L in CPT2 is very common in Caucasian patients, whereas F383Y is the most common mutation among Japanese patients. We herein present a case of CPT II deficiency in a Japanese patient homozygous for the missense mutation S113L. The patient showed a decreased frequency of rhabdomyolysis recurrence after the administration of a diet containing medium-chain triglyceride oil and supplementation with carnitine and bezafibrate...
2016: Internal Medicine
Tomica Ambang, Joo-San Tan, Sheila Ong, Kum-Thong Wong, Khean-Jin Goh
Telbivudine, a thymidine nucleoside analog, is a common therapeutic option for chronic hepatitis B infection. While raised serum creatine kinase is common, myopathy associated with telbivudine is rare. Reports on its myopathological features are few and immunohistochemical analyses of inflammatory cell infiltrates have not been previously described. We describe the clinical, myopathological and immunohistochemical features of four patients who developed myopathy after telbivudine therapy for chronic hepatitis B infection...
2016: PloS One
Fiona C Pearce, Alan A McNab, Thomas G Hardy
PURPOSE: To report 4 cases of Marcus Gunn jaw-winking synkinesis (MGJWS) in the absence of ptosis. METHODS: A retrospective review of patients with MGJWS and congenital ptosis was compiled from the public and private subspecialty adult and pediatric oculoplastic practices of the 2 senior authors (AAM, TGH). Clinical data collected on patients with MGJWS included visual acuity, stereopsis, ocular motility, side of jaw-wink, presence or absence of ptosis, levator function, clinical photographs and videos, and any management undertaken...
September 7, 2016: Ophthalmic Plastic and Reconstructive Surgery
Kenji Yamada, Hironori Kobayashi, Ryosuke Bo, Jamiyan Purevsuren, Yuichi Mushimoto, Tomoo Takahashi, Yuki Hasegawa, Takeshi Taketani, Seiji Fukuda, Seiji Yamaguchi
INTRODUCTION: We evaluated the effects of bezafibrate (BEZ) on β-oxidation in fibroblasts obtained from patients with glutaric acidemia type II (GA2) of various clinical severities using an in vitro probe (IVP) assay. METHODS: Cultured fibroblasts from 12 patients with GA2, including cases of the neonatal-onset type both with and without congenital anomalies (the prenatal- and neonatal-onset forms, respectively), the infantile-onset, and the myopathic forms, were studied...
August 30, 2016: Brain & Development
Kaumudi Konkay, Meena Angamuthu Kannan, Lokesh Lingappa, Megha S Uppin, Sundaram Challa
BACKGROUND AND PURPOSE: Muscle biopsy features of congenital muscular dystrophies (CMD) vary from usual dystrophic picture to normal or nonspecific myopathic picture or prominent fibrosis or striking inflammatory infiltrate, which may lead to diagnostic errors. A series of patients of CMD with significant inflammatory infiltrates on muscle biopsy were correlated with laminin α2 deficiency on immunohistochemistry (IHC). MATERIAL AND METHODS: Cryostat sections of muscle biopsies from the patients diagnosed as CMD on clinical and muscle biopsy features from 1996 to 2014 were reviewed with hematoxylin and eosin(H&E), enzyme and immunohistochemistry (IHC) with laminin α2...
July 2016: Annals of Indian Academy of Neurology
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