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Cramp disorders

Diana A Olszewska, Terri McVeigh, Emer M Fallon, Gregory M Pastores, Tim Lynch
Genetics is the backbone of Neurology, where a number of disorders have a genetic aetiology and are complex, requiring a dedicated Neurogenetics clinic. Genetics in the Republic of Ireland is under-resourced, with the lowest number of consultants per million of population in Europe. In November 2014, we established the monthly adult Neurogenetics clinic in Ireland, staffed by 2 consultants and 2 registrars from each speciality. We see patients with complex rare neurological conditions that may potentially have an underlying genetic basis, in the presence or absence of a family history...
March 9, 2018: Irish Journal of Medical Science
Emilie Cornec-Le Gall, Fouad T Chebib, Charles D Madsen, Sarah R Senum, Christina M Heyer, Brendan C Lanpher, Marc C Patterson, Robert C Albright, Alan S Yu, Vicente E Torres, Peter C Harris
The diagnosis of autosomal dominant polycystic kidney disease (ADPKD) relies on imaging criteria in the setting of a positive familial history. Molecular analysis, seldom used in clinical practice, identifies a causative mutation in >90% of cases in the genes PKD1, PKD2, or rarely GANAB. We report the clinical and genetic dissection of a 7-generation pedigree, resulting in the diagnosis of 2 different cystic disorders. Using targeted next-generation sequencing of 65 candidate genes in a patient with an ADPKD-like phenotype who lacked the familial PKD2 mutation, we identified a COL4A1 mutation (p...
January 27, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
Michael Rohr, Chandrakala Aluganti Narasimhulu, Dhara Sharma, Mitsushita Doomra, Aladdin Riad, Saleh Naser, Sampath Parthasarathy
Inflammatory bowel diseases (IBD), including Crohn's disease and ulcerative colitis, are chronic inflammatory disorders of the gastrointestinal tract whose prevalence has been dramatically increasing over the past decade. New studies have shown that IBD is the second most common chronic inflammatory disease worldwide after rheumatoid arthritis, affecting millions of people mainly in industrialized countries. Symptoms of IBD include frequent bloody diarrhea, abdominal cramping, anorexia, abdominal distension, and emesis...
February 1, 2018: Journal of Medicinal Food
Aaron R Kuzel, Muhammad Uzair Lodhi, Intekhab Askari Syed, Mustafa Rahim
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized clinically by progressive muscle weakness that can occur proximally or distally in either the upper or lower extremities. It includes both upper motor neuron signs (spasticity, hyperreflexia, clonus, and Babinski sign) and lower motor neuron signs (atrophy, weakness, and muscle fasciculation). Initial presentation of progressively painful muscle cramps should lead the physician to screen for other signs of amyotrophic lateral sclerosis...
November 10, 2017: Curēus
Emma Matthews, Christoph Neuwirth, Fatima Jaffer, Renata S Scalco, Doreen Fialho, Matt Parton, Dipa Raja Rayan, Karen Suetterlin, Richa Sud, Roland Spiegel, Rachel Mein, Henry Houlden, Andrew Schaefer, Estelle Healy, Jacqueline Palace, Ros Quinlivan, Susan Treves, Janice L Holton, Heinz Jungbluth, Michael G Hanna
OBJECTIVE: To characterize the phenotype of patients with symptoms of periodic paralysis (PP) and ryanodine receptor (RYR1) gene mutations. METHODS: Cases with a possible diagnosis of PP but additional clinicopathologic findings previously associated with RYR1-related disorders were referred for a tertiary neuromuscular clinical assessment in which they underwent detailed clinical evaluation, including neurophysiologic assessment, muscle biopsy, and muscle MRI. Genetic analysis with next-generation sequencing and/or targeted Sanger sequencing was performed...
January 30, 2018: Neurology
Peter J Pappas, Sanjiv Lakhanpal, Khanh Q Nguyen, Rohan Vanjara
BACKGROUND: Chronic venous disorders (CVDs) have been estimated to affect up to 20 million Americans. Despite this huge prevalence, the signs, symptoms, and treatment outcomes in patients 65 years of age and older are not well defined. Our goal was to determine the presentation and treatment outcomes in elderly patients compared with a cohort of patients younger than 65 years. METHODS: From January 2015 to December 2016, we retrospectively reviewed prospectively collected data from 38,750 patients with CVD from the Center for Vein Restoration's electronic medical record (NextGen Healthcare Information Systems, Irvine, Calif)...
January 2018: Journal of Vascular Surgery. Venous and Lymphatic Disorders
Mhd Louai Manini, Michael Camilleri, Rayna Grothe, Carlo Di Lorenzo
BACKGROUND: Gastrointestinal (GI) motility disorders are common in children. Treatment is challenging with limited medical and surgical options. Pyridostigmine, an acetyl cholinesterase inhibitor, increases acetylcholine at the neuromuscular junction promoting intestinal contractions. Little is known about the role and dosing of pyridostigmine in pediatric GI motility disorders. METHODS: We present a case series of children with GI dysmotility managed with oral pyridostigmine...
December 14, 2017: Paediatric Drugs
Philip W Tipton, Zbigniew K Wszołek
Restless legs syndrome (RLS) and nocturnal leg cramps (NLCs) are common disorders affecting 7.0% and 24.1% of the population in some European countries, respectively. Patients suffering from RLS experience uncomfortable nocturnal sensations in the legs with the urge to move that dissipates while moving. NLC is characterized by abrupt muscle contraction, most often in the gastrocnemius or foot muscles, which occurs at night and may result in significant sleep disturbances. The diagnosis of these disorders has presented a challenge to health care providers because of symptom overlap with other sensory and motor disturbances with nocturnal predominance...
December 22, 2017: Polish Archives of Internal Medicine
Carlo Fusco, Carlotta Spagnoli, Grazia Gabriella Salerno, Elena Pavlidis, Daniele Frattini, Francesco Pisani
BACKGROUND: Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder most commonly presenting with acute-onset, non-painful focal sensory and motor mononeuropathy. Approximately 80% of patients carry a 1.5 Mb deletion of chromosome 17p11.2 involving the peripheral myelin protein 22 gene (PMP22), the same duplicated in Charcot-Marie-Tooth 1A patients. In a small proportion of patients the disease is caused by PMP22 point mutations. CASE PRESENTATION: We report on a familial case harbouring a new point mutation in the PMP22 gene...
October 27, 2017: Italian Journal of Pediatrics
Sevcan Karakoç Demirkaya, Hatice Aksu, Börte Gürbüz Özgür
Objective: Risperidone has been widely used to control aggression and conduct disorder (CD) in youth; however, treatment compliance is a major problem in CD. Our aim is to evaluate the effectiveness and tolerability of long-acting risperidone (LAR) in treating nonadherent cases. Methods: The medical records of children and adolescents who had CD and were nonadherent to conventional drugs and psychosocial interventions (and therefore taking LAR) were reviewed. Informed consent on offlabel use of LAR was obtained from the parents...
November 30, 2017: Clinical Psychopharmacology and Neuroscience: the Official Scientific Journal of the Korean College of Neuropsychopharmacology
Poovadan Sudhakaran
Background: Amyotrophic lateral sclerosis (ALS) is an adult onset neurodegenerative disorder that has no curative treatment and is usually fatal. Modern medicine treatment is mostly supportive. Acupuncture has much more to offer by way of symptomatic relief and improving quality of life (QoL). Useful points for the treatment of bulbar paralysis, paralysis of upper and lower extremities, and correction of underlying Disharmony Patterns are discussed and an illustrative case is presented to demonstrate the acupuncture approach for treating ALS...
October 1, 2017: Medical Acupuncture
Bei Yang, Qi-Zhong Qin, Ling-Li Han, Jing Lin, Yu Chen
To investigate the relieving effects of hot spring balneotherapy on mental stress, sleep disorder, general health problems, and women's health problems in sub-healthy people, we recruited 500 volunteers in sub-health in Chongqing, and 362 volunteers completed the project, including 223 in the intervention group and 139 in the control group. The intervention group underwent hot spring balneotherapy for 5 months, while the control group did not. The two groups took questionnaire investigation (general data, mental stress, emotional status, sleep quality, general health problems, as well as some women's health problems) and physical examination (height, weight, waist circumference, blood pressure, blood lipid, blood sugar) 5 months before and after the intervention, respectively...
September 21, 2017: International Journal of Biometeorology
Elizabeth Birk-Urovitz, M Elisabeth Del Giudice, Christopher Meaney, Karan Grewal
OBJECTIVE: To assess the use of thyroid-stimulating hormone (TSH) tests for identifying primary hypothyroidism in 2 academic family medicine settings. DESIGN: Descriptive study involving a retrospective electronic chart review of family medicine patients who underwent TSH testing. SETTING: Two academic family practice sites: one site is within a tertiary hospital in Toronto, Ont, and the other is within a community hospital in Newmarket, Ont...
September 2017: Canadian Family Physician Médecin de Famille Canadien
Niklaus Meyer, Reto Sutter, Udo Schirp, Andreas Gutzeit
BACKGROUND: Sarcoidosis is a multisystemic granulomatous disorder, which in nearly all cases involves the lungs and other organs. Isolated forms of sarcoidosis within the muscles, but without lung involvement, are extremely rare and can lead to delayed or even false diagnosis. CASE PRESENTATION: A 52-year-old white, Swiss man presented with painful arm cramps and a history of symptoms over the previous 3 years. In the initial clinical investigation, our patient also showed edema in both legs without any other complaints...
August 24, 2017: Journal of Medical Case Reports
Clara G Sears, Kristina M Zierold
Coal ash, generated from coal combustion, is composed of small particles containing metals and other elements, such as metalloids. Coal ash is stored in open-air impoundments, frequently near communities. The objective of this study was to evaluate the prevalence of health and sleep problems in children living near coal ash and compare these prevalences to children not living near coal ash. In 2013 to 2014, we conducted a cross-sectional survey in a community adjacent to coal ash storage sites and a community not exposed to coal ash...
2017: Global Pediatric Health
Lynn Marie Trotti
PURPOSE OF REVIEW: This article provides an update on six sleep-related movement disorders: restless legs syndrome (RLS), periodic limb movement disorder, sleep-related leg cramps, bruxism, rhythmic movement disorder, and propriospinal myoclonus, with an emphasis on RLS. RECENT FINDINGS: RLS is a common sensorimotor disorder that impairs quality of life. RLS is frequently comorbid to neurologic, psychiatric, vascular, and inflammatory diseases. Accumulating evidence implicates the pathophysiology of RLS as a state of dopamine dysfunction and iron deficiency that occurs on a background of genetic susceptibility conferred by 6 gene polymorphisms...
August 2017: Continuum: Lifelong Learning in Neurology
Josephe A Honorat, Lars Komorowski, Keith A Josephs, Kai Fechner, Erik K St Louis, Shannon R Hinson, Sabine Lederer, Neeraj Kumar, Avi Gadoth, Vanda A Lennon, Sean J Pittock, Andrew McKeon
OBJECTIVE: To describe the phenotypes, treatment response, and outcome of IgLON5 autoimmunity. METHODS: Archived serum and CSF specimens from 367 patients known to harbor unclassified antibodies which stained neural synapses diffusely (mimicking amphiphysin-IgG) were reevaluated by indirect immunofluorescence assay (IFA) using a composite of mouse tissues and recombinant IgLON5-transfected cell-based assay (CBA, Euroimmun). RESULTS: Available specimens (serum, 25; CSF, 9) from 26/367 patients (7%) had identical IFA appearance and robust IgLON5 CBA positivity...
September 2017: Neurology® Neuroimmunology & Neuroinflammation
James C Anderson, Megan L Fritz, John-Michael Benson, Brian L Tracy
INTRODUCTION: Restless legs syndrome (RLS) is a prevalent sleep disorder affecting quality of life and is often comorbid with other neurological diseases, including peripheral neuropathy. The mechanisms related to RLS symptoms remain unclear, and treatment options are often aimed at symptom relief rather than etiology. RLS may present in distinct phenotypes often described as "primary" vs. "secondary" RLS. Secondary RLS is often associated with peripheral neuropathy. Nerve decompression surgery of the common and superficial fibular nerves is used to treat peripheral neuropathy...
2017: Frontiers in Neurology
Afsane Bahrami, Hamidreza Sadeghnia, Amir Avan, Seyed Jamal Mirmousavi, Alireza Moslem, Saeed Eslami, Masoud Heshmati, Hamidreza Bahrami-Taghanaki, Gordon A Ferns, Majid Ghayour-Mobarhan
OBJECTIVE: Hormonal variations during the menstrual cycle may affect emotional regulation. We aimed to investigate the association between dysmenorrhea (the severe abdominal pain and cramps associated with menstruation) and cognitive abilities, emotional function and sleep patterns in adolescent girls. Moreover, we evaluated the frequency of premenstrual syndrome (PMS) in our population and then divided them into 4 groups: subjects with only PMS; subjects with only dysmenorrhea; individuals with both PMS and dysmenorrhea and normal subjects...
August 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Emma Matthews, Arpana Silwal, Richa Sud, Michael G Hanna, Adnan Y Manzur, Francesco Muntoni, Pinki Munot
OBJECTIVE: To ascertain the presenting symptoms of children with skeletal muscle channelopathies to promote early diagnosis and treatment. STUDY DESIGN: Retrospective case review of 38 children with a skeletal muscle channelopathy attending the specialist pediatric neuromuscular service at Great Ormond Street Hospital over a 15-year period. RESULTS: Gait disorder and leg cramps are a frequent presentation of myotonic disorders (19 of 29). Strabismus or extraocular myotonia (9 of 19) and respiratory and/or bulbar symptoms (11 of 19) are common among those with sodium channelopathy...
September 2017: Journal of Pediatrics
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