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https://www.readbyqxmd.com/read/28330959/predominantly-myalgic-phenotype-caused-by-the-c-3466g-a-p-a1156t-mutation-in-scn4a-gene
#1
Johanna Palmio, Satu Sandell, Michael G Hanna, Roope Männikkö, Sini Penttilä, Bjarne Udd
OBJECTIVE: To characterize the clinical phenotype in patients with p.A1156T sodium channel mutation. METHODS: Twenty-nine Finnish patients identified with the c.3466G>A p.A1156T mutation in the SCN4A gene were extensively examined. In a subsequent study, 63 patients with similar myalgic phenotype and with negative results in myotonic dystrophy type 2 genetic screening (DM2-neg group) and 93 patients diagnosed with fibromyalgia were screened for the mutation. Functional consequences of the p...
March 22, 2017: Neurology
https://www.readbyqxmd.com/read/28318624/treatment-tolerance-and-patient-reported-outcomes-favor-online-hemodiafiltration-compared-to-high-flux-hemodialysis-in-the-elderly
#2
Marion Morena, Audrey Jaussent, Lotfi Chalabi, Hélène Leray-Moragues, Leila Chenine, Alain Debure, Damien Thibaudin, Lynda Azzouz, Laure Patrier, Francois Maurice, Philippe Nicoud, Claude Durand, Bruno Seigneuric, Anne-Marie Dupuy, Marie-Christine Picot, Jean-Paul Cristol, Bernard Canaud
Large cohort studies suggest that high convective volumes associated with online hemodiafiltration may reduce the risk of mortality/morbidity compared to optimal high-flux hemodialysis. By contrast, intradialytic tolerance is not well studied. The aim of the FRENCHIE (French Convective versus Hemodialysis in Elderly) study was to compare high-flux hemodialysis and online hemodiafiltration in terms of intradialytic tolerance. In this prospective, open-label randomized controlled trial, 381 elderly chronic hemodialysis patients (over age 65) were randomly assigned in a one-to-one ratio to either high-flux hemodialysis or online hemodiafiltration...
March 15, 2017: Kidney International
https://www.readbyqxmd.com/read/28294976/vitamins-and-microelement-bioavailability-in-different-stages-of-chronic-kidney-disease
#3
REVIEW
Magdalena Jankowska, Bolesław Rutkowski, Alicja Dębska-Ślizień
Chronic kidney disease (CKD) predisposes one to either deficiency or toxic excess of different micronutrients. The knowledge on micronutrients-specifically water-soluble vitamins and trace elements-in CKD is very limited. Consequently, current guidelines and recommendations are mostly based on expert opinions or poor-quality evidence. Abnormalities of micronutrient resources in CKD develop for several reasons. Dietary restrictions and anorexia lead to an insufficient micronutrient intake, while diuretics use and renal replacement therapy lead to their excessive losses...
March 15, 2017: Nutrients
https://www.readbyqxmd.com/read/28284391/neuromuscular-manifestations-in-mitochondrial-diseases-in-children
#4
Andrés Nascimento, Carlos Ortez, Cristina Jou, Mar O'Callaghan, Federico Ramos, Àngels Garcia-Cazorla
Mitochondrial diseases exhibit significant clinical and genetic heterogeneity. Mitochondria are highly dynamic organelles that are the major contributor of adenosine triphosphate, through oxidative phosphorylation. These disorders may be developed at any age, with isolated or multiple system involvement, and in any pattern of inheritance. Defects in the mitochondrial respiratory chain impair energy production and almost invariably involve skeletal muscle and peripheral nerves, causing exercise intolerance, cramps, recurrent myoglobinuria, or fixed weakness, which often affects extraocular muscles and results in droopy eyelids (ptosis), progressive external ophthalmoplegia, peripheral ataxia, and peripheral polyneuropathy...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28283277/anabolic-androgen-use-in-the-management-of-hereditary-angioedema-not-so-cheap-after-all
#5
Kevin Y Tse, Bruce L Zuraw, Qiaoling Chen, Sandra C Christiansen
BACKGROUND: Hereditary angioedema due to C1 inhibitor deficiency (HAE) is a rare, life-threatening disease that imposes a significant burden on affected patients. 17α-alkylated androgens (anabolic androgens) decrease attack frequency and severity but carry the risk of potentially serious dose-related adverse effects. Despite the emergence of targeted therapies for HAE, continued anabolic androgen use has been driven in part by their low cost. OBJECTIVE: To examine the hidden cost of anabolic androgen use related to the risk of developing non-HAE comorbidities...
March 7, 2017: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/28264542/a-case-series-study-on-the-efficacy-of-functional-surgery-associated-with-early-intensive-rehabilitation-therapy-in-charcot-marie-tooth-type-1a-disease
#6
Francesco Ferraro, Barbara Dusina, Irene Carantini, Roberto Strambi, Emanuela Galante, Luca Gaiani
BACKGROUND: Charcot-Marie-Tooth (CMT) is a genetically and clinically heterogeneous disorder, and it is caused by alterations in genes with different loci that encode for proteins, resulting into metabolic and structural defects. The most common form of the disease is CMT1A. Treatment of the disease, due to the absence of an effective pharmacological therapy, mainly relies on surgical treatment and rehabilitative therapy. However, the Literature is still poor of evidences on this subject...
March 6, 2017: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/28261922/a-case-of-primary-aldosteronism-caused-by-unilateral-multiple-adrenocortical-micronodules-presenting-as-muscle-cramps-at-rest-the-importance-of-functional-histopathology-for-identifying-a-culprit-lesion
#7
Atsushi Ito, Yuto Yamazaki, Hironobu Sasano, Daisuke Matsubara, Noriyoshi Fukushima, Mio Tamba, Kenichi Tabata, Kentaro Ashizawa, Akihito Takei, Masaru Koizumi, Yasunaru Sakuma, Naohiro Sata, Hisashi Oshiro
Unilateral multiple adrenocortical micronodules (UMNs) constitute a rare subset of primary aldosteronism (PA) characterized by the hypersecretion of aldosterone derived from multiple small nodules in the zona glomerulosa of the unilateral adrenal grand. This case study describes a 49-year-old man with PA and UMNs who presented with muscle cramps at rest due to hypokalemia. The patient had a 6-year history of hypertension treated with antihypertensive drugs. Imaging studies revealed bilateral adrenal nodules as large as 5 mm...
March 5, 2017: Pathology International
https://www.readbyqxmd.com/read/28241802/criteria-in-diagnosing-nocturnal-leg-cramps-a-systematic-review
#8
Joannes Hallegraeff, Mathieu de Greef, Wim Krijnen, Cees van der Schans
BACKGROUND: Up to 33% of the general population over 50 years of age are affected by nocturnal leg cramps. Currently there are no generally accepted clinical characteristics, which identify nocturnal leg cramps. This study aims to identify these clinical characteristics and to differentiate between them and the characteristics of restless leg syndrome and periodic limb disorder. METHOD: A systematic literature study was executed from December 2015 to May 2016. This study comprised of a systematic literature review of randomized clinical trials, observational studies on nocturnal and rest cramps of legs and other muscles, and other systematic and narrative reviews...
February 28, 2017: BMC Family Practice
https://www.readbyqxmd.com/read/28241332/osteopathic-manipulative-treatment-in-the-management-of-isaacs-syndrome
#9
Lisa K T Shanahan, Selena G M Raines, Rachel L Coggins, Teanna Moore, Michael Carnes, Laura Griffin
Isaacs syndrome is a rare neuromuscular disorder characterized by chronic muscle stiffness, cramping, fasciculations, myokymia, and hyperhidrosis. Pathogenesis includes autoimmunity, paraneoplastic disorders, genetic predisposition, or toxin exposure. There is no known cure for Isaacs syndrome. This case report describes a patient who had been given the diagnosis of Isaacs syndrome and received osteopathic manipulative treatment to manage fascial and cranial dysfunctions and reduce nervous system hyperexcitability...
March 1, 2017: Journal of the American Osteopathic Association
https://www.readbyqxmd.com/read/28223675/-low-dose-and-interval-administration-of-imatinib-in-a-patient-with-liver-metastasis-of-the-gastrointestinal-stromal-tumor-of-the-stomach-a-case-report
#10
Nobuhiro Morinaga, Hideyuki Saito, Chika Komine, Asuka Matsumoto, Toshihide Katoh, Naritaka Tanaka, Kenji Nakazato, Takuro Nakamura, Yoshinori Shitara, Masatoshi Ishizaki
A 69-year-old woman underwent proximal gastrectomy with distal pancreatectomy and splenectomy for a gastrointestinal stromal tumor of the stomach.Adjuvant imatinib was administered for a year.Two years after resection of the tumor, liver metastasis in S8 was detected.Therefore, imatinib was re-administered at 300mg/day.After a year of re-administration, the patient suffered muscle cramps in the hands, and therefore imatinib was administered with intervals, such as 4 weeks administration and 4 weeks rest.Re -administration of imatinib was effective and her liver metastasis decreased in size...
February 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28223230/myotoxicity-of-statins-mechanism-of-action
#11
REVIEW
Patrick du Souich, Ghislaine Roederer, Robert Dufour
Statins are effective drugs to reduce cardiovascular events secondary to dyslipidemia; however, they cause frequent undesirable side effects. The incidence of statin-induced myotoxicity (SIM) is presented by 7 to 29% of patients, depending upon the report. SIM may develop in presence of abnormally high concentrations of statins in the myocyte and/or in presence of muscular conditions that may predispose to SIM. High concentrations of statins in the myocyte may occur whenever the activity of liver influx membrane transporters, namely OATP1B1, of drug metabolizing enzymes, and of liver and muscular efflux transporters, MDR1 and BCRP, is reduced...
February 14, 2017: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28222455/muscle-cramps-pain-%C3%A2-weakness-%C3%A2-muscle-twitching-%C3%A2-dx
#12
Sommer Aldulaimi
A 39-year-old man who worked in construction presented to our clinic with complaints of muscle cramps and muscle pain that had been bothering him for several months. The cramps and pain started in both of his arms and subsequently became diffuse and generalized. He also reported an unintentional 15-pound weight loss.
February 2017: Journal of Family Practice
https://www.readbyqxmd.com/read/28215594/adult-onset-satoyoshi-syndrome-in-a-young-male
#13
Vinícius Viana Abreu Montanaro, Thiago Falcão Hora, Christian Marques Couto, Flavio Diniz Ribas
Satoyoshi syndrome is a rare condition of presumed autoimmune etiology that is characterized by intermittent painful spasms, diarrhea, hair loss, and bone abnormalities. We report the first case of adult onset Satoyoshi syndrome in South America. A 32-year-old Caucasian male presented with sudden involuntary muscle contractions and painful cramps that had started at the age of 21. He also presented with trismus and complete loss of body hair. Electroneuromyography showed abnormal spontaneous activity. Diagnosis of Satoyoshi syndrome was made after extensive investigation; improvement was achieved with corticosteroids and azathioprine...
January 20, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28214267/a-japanese-male-with-a-novel-ano5-mutation-with-minimal-muscle-weakness-and-muscle-pain-till-his-late-fifties
#14
Masato Kadoya, Katsuhisa Ogata, Mikiya Suzuki, Yutaka Honma, Kazunari Momma, Kana Yatabe, Takuhisa Tamura, Kenichi Kaida, Naomasa Miyata, Ichizo Nishino, Ikuya Nonaka, Mitsuru Kawai
Limb girdle muscular dystrophy type 2L (LGMD2L) is an adult-onset slowly progressive muscular dystrophy associated with anoctamin 5 (ANO5) gene mutation, mainly reported from Northern and Central Europe. We report the case of a Japanese male patient with a novel homozygous mutation of c.2394dup, p.Arg799Thrfs in ANO5 gene, the second patient in the Asian population. He had had marked elevation of creatine kinase (CK) level for more than 10 years with minimal muscular symptoms consisting of muscle stiffness and occasional cramps, preceding the onset of proximal limb weakness...
January 18, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28209505/botulinum-toxin-treatment-for-nocturnal-calf-cramps-in-patients-with-lumbar-spinal-stenosis-a-randomized-clinical-trial
#15
Sang Jun Park, Kyung Bong Yoon, Duck Mi Yoon, Shin Hyung Kim
OBJECTIVES: To evaluate the clinical effectiveness of botulinum toxin (BTX) injection into the gastrocnemius muscles in lumbar spinal stenosis (LSS) patients with frequent nocturnal calf cramps (NCCs) DESIGN: Prospective randomized clinical trial SETTING: Outpatient department for interventional pain management. PARTICIPANTS: Fifty LSS patients with a frequency of NCCs ≥ once per week were enrolled. INTERVENTION: Patients were randomly allocated to receive either conservative treatments plus gabapentin (Group GPN) or BTX injection (Group BTX)...
February 13, 2017: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/28195911/a-restless-leg-syndrome-incidentally-detected-by-an-18f-fdg-positron-emission-tomography
#16
Jessica Ohnona, Arnaud Metlaine, Damien Leger, Jean-Noël Talbot
A case of a restless leg syndrome (RLS) was incidentally detected in a 49-year-old woman referred for an F-FDG PET/CT in monitoring her breast cancer. She was treated with chemotherapy and on long-term hormone therapy. Diffuse F-FDG uptake of calf muscles was visualized. Medical history revealed that the patient felt leg cramps in supine position, suggesting RLS. The diagnosis was confirmed using clinical rating scales and polysomnography. RLS being underdiagnosed, this type of FDG PET/CT incidental finding should prompt to check the presence of evocative symptoms and refer the patient to a physician specialized in sleep disorders...
February 13, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28194192/the-effect-of-acupressure-on-muscle-cramps-in-patients-undergoing-hemodialysis
#17
Kolsoom Mohmadi, Nahid Shahgholian, Mahboubeh Valiani, Hossein Mardanparvar
BACKGROUND: Pain resulting from muscle cramps is one of the most common outcomes of hemodialysis. One of the mechanisms associated with muscle cramps is unnatural muscle metabolism. Because acupressure improves muscle metabolism through the releasing of energy, this study was performed with the purpose of determining the impact of acupressure on muscle cramps. MATERIALS AND METHODS: This study was a single-blind clinical trial. Accordingly, 64 patients were selected and intensity and frequency of muscle cramps were determined by randomly categorizing them into two groups...
November 2016: Iranian Journal of Nursing and Midwifery Research
https://www.readbyqxmd.com/read/28192854/ingestion-of-trp-channel-agonists-attenuates-exercise-induced-muscle-cramps
#18
Daniel H Craighead, Sean W Shank, Jinger S Gottschall, Dennis H Passe, Bob Murray, Lacy M Alexander, W Larry Kenney
Exercise associated muscle cramping (EAMC) is a poorly understood problem that is neuromuscular in origin. Ingestion of transient receptor potential (TRP) channel agonists has been efficacious in attenuating electrically-induced muscle cramps. PURPOSE: To examine the effect of TRP agonist ingestion on voluntarily-induced EAMC and motor function. METHODS: Study 1: 39 subjects completed 2 trials after ingesting TRP agonist-containing active treatment (A), or vehicle (V) control...
February 13, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28167158/most-individuals-with-advanced-cirrhosis-have-sleep-disturbances-which-are-associated-with-poor-quality-of-life
#19
Marwan Ghabril, Mollie Jackson, Raghavender Gotur, Regina Weber, Eric Orman, Raj Vuppalanchi, Naga Chalasani
BACKGROUND & AIMS: Sleep disturbances are common in patients with cirrhosis, but their determinants and effects on health-related quality of life are not well understood. We investigated the prevalence of disturbed sleep in these patients, factors associated with sleep disruption, and effects on quality of life. METHODS: We performed a prospective, cross-sectional study of 193 stable ambulatory patients with cirrhosis (154 with decompensated cirrhosis). Participants completed the Pittsburgh sleep questionnaire index (to assess sleep quality), the chronic liver disease questionnaire (CLDQ), muscle cramp questionnaires, and underwent neurocognitive testing...
February 3, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28160775/craniopharyngioma-presenting-with-severe-hyponatremia-hyponatremia-induced-myopathy-and-panhypopituitarism-a-case-report
#20
M D S A Dilrukshi, G V N Sandakumari, P K Abeysundara, T Chang
BACKGROUND: Craniopharyngiomas are rare intracranial tumors commonly presenting with neurological symptoms. Reports of severe hyponatremia as a presenting manifestation of a craniopharyngioma and hyponatremia-induced myopathy are rare. We report the case of a patient with craniopharyngioma presenting with severe hyponatremia, panhypopituitarism, and hyponatremia-induced myopathy. CASE PRESENTATION: A 52-year-old Sri Lankan man presented with anorexia, nausea, fatigue, generalized muscle weakness, and cramps for 1 week...
February 5, 2017: Journal of Medical Case Reports
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