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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
#1
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
#2
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
#3
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/28194755/withdrawn-exercise-for-dysmenorrhoea
#4
REVIEW
Julie Brown, Stephen Brown
BACKGROUND: Dysmenorrhoea is characterised by cramping lower abdominal pain that may radiate to the lower back and upper thighs and is commonly associated with nausea, headache, fatigue and diarrhoea. Physical exercise has been suggested as a non-medical approach to the management of these symptoms. OBJECTIVES: To assess the evidence for the effectiveness of exercise in the treatment of dysmenorrhoea. SEARCH METHODS: A search was conducted using the methodology of the Menstrual Disorders and Subfertility Group (August 2009)...
February 14, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28194192/the-effect-of-acupressure-on-muscle-cramps-in-patients-undergoing-hemodialysis
#5
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/28193185/intestinal-goblet-cell-carcinoid-presenting-with-recurrent-sterile-peritonitis-in-a-patient-on-peritoneal-dialysis-a-case-report
#6
Chih-Wei Chen, Jan-Show Chu, Li-Chun Hsieh, Chih-Chin Kao, Yen-Chung Lin, Hsi-Hsien Chen
BACKGROUND: Goblet cell carcinoid is a rare variant of appendiceal carcinoid with mixed endocrine and exocrine features. The most common symptom and signs are abdominal pain, acute appendicitis and palpable mass. Additionally, abdominal pain is common in patient on peritoneal dialysis, which may confound the diagnosis in such patient. CASE PRESENTATION: We report a 71- years- old woman on peritoneal dialysis that experienced several episodes of abdominal cramping pain and sterile peritonitis...
February 13, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28192854/ingestion-of-trp-channel-agonists-attenuates-exercise-induced-muscle-cramps
#7
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/28190498/classification-of-involuntary-movements-in-dogs-paroxysmal-dyskinesias
#8
REVIEW
Mark Lowrie, Laurent Garosi
Paroxysmal dyskinesias (PDs) are a group of hyperkinetic movement disorders characterised by circumscribed episodes of disturbed movement, superimposed on a background state in which such abnormality is absent. There is no loss of consciousness. Episodes can last seconds, minutes or hours, and the beginning and end of the movement disturbance are abrupt. Neurological examination is typically normal between episodes. PDs are associated with a broad spectrum of clinical presentations, encompassing various aetiologies...
February 2017: Veterinary Journal
https://www.readbyqxmd.com/read/28173798/spasmogenic-and-spasmolytic-activity-of-rind-of-punica-granatum-linn
#9
Niaz Ali, Ayesha Jamil, Syed Wadood Ali Shah, Ismail Shah, Ghayour Ahmed
BACKGROUND: Rind of Punica granatum is traditionally used in treatment of abdominal cramps and various GIT disorders. So far spasmolytic activity of rind of Punica granatum has been reported using in vitro model. However, its mode of action is not explored yet. Therefore, the current work describes the possible mode of action for spasmolytic activity of methanolic extract of rind of Punica granatum (Pg. Cr). Acute toxicity study is also performed to determine its safe dose range. METHODS: Rind of Punica granatum was subjected to shade drying...
February 7, 2017: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/28167158/most-individuals-with-advanced-cirrhosis-have-sleep-disturbances-which-are-associated-with-poor-quality-of-life
#10
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/28162113/a-large-outbreak-of-gastrointestinal-illness-at-an-open-water-swimming-event-in-the-river-thames-london
#11
V Hall, A Taye, B Walsh, H Maguire, J Dave, A Wright, C Anderson, P Crook
Open-water swimming is increasingly popular, often in water not considered safe for bathing. Limited evidence exists on the associated health risks. We investigated gastrointestinal illness in 1100 swimmers in a River Thames event in London, UK, to describe the outbreak and identify risk factors. We conducted a retrospective cohort study. Our case definition was swimmers with any: diarrhoea, vomiting, abdominal cramps lasting ⩾48 h, nausea lasting ⩾48 h, with onset within 9 days after the event. We used an online survey to collect information on symptoms, demographics, pre- and post-swim behaviours and open-water experience...
February 6, 2017: Epidemiology and Infection
https://www.readbyqxmd.com/read/28160775/craniopharyngioma-presenting-with-severe-hyponatremia-hyponatremia-induced-myopathy-and-panhypopituitarism-a-case-report
#12
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
https://www.readbyqxmd.com/read/28156641/in-search-of-the-optimal-outcome-measure-for-patients-with-advanced-cancer-and-gastrointestinal-obstruction-a-qualitative-research-study
#13
Loretta A Williams, Eduardo Bruera
: 100 Background: Gastrointestinal obstruction (GIO) is the most common indication for palliative surgical consultation in patients with advanced cancer. The purpose of this study was to delineate the symptom burden and experience of patients with GIO. METHODS: Twenty patients with advanced cancer and GIO described symptoms at the time of surgical consultation. We used content analysis of interview transcripts and symptoms were ranked by frequency and compared to a general symptom assessment survey (MD Anderson Symptom Inventory)...
October 9, 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28153824/brincidofovir-is-highly-efficacious-in-controlling-adenoviremia-in-pediatric-recipients-of-hematopoietic-cell-transplant
#14
Prashant Hiwarkar, Persis Amrolia, Ponni Sivaprakasam, Su Han Lum, Hemalatha Doss, Ciara O'Rafferty, Toni Petterson, Katharine Patrick, Juliana Silva, Mary Slatter, Sarah Lawson, Kanchan Rao, Colin Steward, Adam Gassas, Paul Veys, Robert Wynn
Cidofovir is pre-emptively used for controlling adenoviremia and preventing disseminated viral disease in hematopoietic cell transplant (HCT) recipients but does not lead to resolution of viremia without T-cell immune-reconstitution. The lipid conjugated prodrug of Cidofovir, Brincidofovir, has improved oral bioavailability and achieves higher intracellular concentrations of active drug. We present retrospective multicentre data comparing the kinetics of viremia and toxicities following pre-emptive treatment with Cidofovir and Brincidofovir in children and adolescents diagnosed with HCT-related adenoviremia...
February 2, 2017: Blood
https://www.readbyqxmd.com/read/28149652/bilateral-intra-articular-radiofrequency-ablation-for-cervicogenic-headache
#15
Charles A Odonkor, Teresa Tang, David Taftian, Akhil Chhatre
Introduction. Cervicogenic headache is characterized by unilateral neck or face pain referred from various structures such as the cervical joints and intervertebral disks. A recent study of patients with cervical pain showed significant pain relief after cervical medial branch neurotomy but excluded patients with C1-2 joint pain. It remains unclear whether targeting this joint has potential for symptomatic relief. To address this issue, we present a case report of C1-2 joint ablation with positive outcomes...
2017: Case Reports in Anesthesiology
https://www.readbyqxmd.com/read/28131554/-hereditary-neuropathy-with-liability-to-pressure-palsies-in-childhood-report-of-three-cases
#16
C Bar, F Villéga, C Espil, M Husson, J-M Pedespan, M-F Rouanet
Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant neuropathy. It is characterized by recurrent sensory and motor nerve palsies, usually precipitated by minor trauma or compression. Even though rare in childhood, this disorder is probably underdiagnosed given its wide spectrum of clinical symptoms. We review three separate cases of HNPP diagnosed in children with various phenotypes: fluctuating and distal paresthesias disrupting learning at school, cramps related to intensive piano practice, and discrete muscle weakness with no functional complaint...
January 25, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28127506/chemotherapy-induced-neuropathies-a-growing-problem-for-patients-and-health-care-providers
#17
Marta Banach, Judyta K Juranek, Aneta L Zygulska
INTRODUCTION: Chemotherapy-induced neuropathies are one of the most common side effects of cancer treatment, surpassing bone marrow suppression and kidney dysfunction. Chemotherapy effects on the nervous system vary between different classes of drugs and depend on specific chemical and physical properties of the drug used. The three most neurotoxic classes of anti-cancer drugs are: platinum-based drugs, taxanes, and thalidomide and its analogs; other, less neurotoxic but also commonly used drugs are: bortezomib, ixabepilone, and vinca alkaloids...
January 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28121203/chronic-myeloid-leukemia-with-a-novel-e8a1-bcr-abl1-fusion-rapid-molecular-response-with-nilotinib
#18
Mireille Crampe, Fatima Shakkak, Johanna Kelly, Andrew Hodgson, Stephen E Langabeer
No abstract text is available yet for this article.
January 25, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28117803/analyzing-beneficial-effects-of-nutritional-supplements-on-intestinal-epithelial-barrier-functions-during-experimental-colitis
#19
Hilda Vargas Robles, Karla Fabiola Castro Ochoa, Porfirio Nava, Angélica Silva Olivares, Mineko Shibayama, Michael Schnoor
Inflammatory bowel diseases (IBD), including Crohn's disease and ulcerative colitis, are chronic relapsing disorders of the intestines. They cause severe problems, such as abdominal cramping, bloody diarrhea, and weight loss, in affected individuals. Unfortunately, there is no cure yet, and treatments only aim to alleviate symptoms. Current treatments include anti-inflammatory and immunosuppressive drugs that may cause severe side effects. This warrants the search for alternative treatment options, such as nutritional supplements, that do not cause side effects...
January 5, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28114700/-botulinum-toxin-new-developments-in-ophthalmology
#20
B Wabbels
Botulinum toxin is recognised as the gold standard for the treatment of essential blepharospasm and hemifacial spasm, which is similar in effect in synkinesis after facial nerve palsy. The injection intervals can be adjusted according to the patients' needs and be shortened for up to six weeks in cases of eyelid cramping. Newer indications for the use of botulinum toxin in ophthalmology include eyelid retraction in Graves' disease, induction of protective ptosis and treatment of crocodile tears syndrome after facial nerve palsy...
January 23, 2017: Klinische Monatsblätter Für Augenheilkunde
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