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https://www.readbyqxmd.com/read/28063895/improvement-of-table-tennis-dystonia-by-stereotactic-ventro-oral-thalamotomy-a-case-report
#1
Takashi Asahi, Takaomi Taira, Kiyonobu Ikeda, Jiro Yamamoto, Shuji Sato
BACKGROUND: Task-specific focal dystonia, such as writer's cramp and musician's cramp, is a type of dystonia that affects performance of particular tasks. Such movement disorders have been treated with stereotactic ventro-oral (Vo) thalamotomy, with excellent outcomes. However, there has been no previous report of treatment of sport-related/athlete's dystonia by means of stereotactic surgery. We treated a patient with table tennis-related dystonia with Vo thalamotomy, and evaluated the outcome...
January 4, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28039522/focal-task-specific-dystonia-a-review-and-update
#2
Christine M Stahl, Steven J Frucht
In this review, we summarize recent advances in understanding the etiology, risk factors and pathophysiology of focal task specific dystonia (FTSD), movement disorders characterized by abnormal motor activation during the performance of specific, repetitive actions. We focus on two common FTSD, musician's dystonia and writer's cramp. FTSD may pose a threat to the patient's livelihood, and improved therapeutic treatments are needed.
December 30, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/28018459/a-novel-mutation-of-clcnkb-in-a-korean-patient-of-mixed-phenotype-of-bartter-gitelman-syndrome
#3
Hee-Won Cho, Sang Taek Lee, Heeyeon Cho, Hae Il Cheong
Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of patients with CLCNKB mutations has been known to be highly variable, and cases that are difficult to categorize as type III BS or other hereditary tubulopathies, such as Gitelman syndrome, have been rarely reported...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28006835/cramp-fasciculation-syndrome-associated-with-monofocal-motor-neuropathy
#4
Nicolas J Dubuisson, Vincent Van Pesch, Peter Y K Van den Bergh
INTRODUCTION: Cramp-fasciculation syndrome (CFS) is a peripheral nerve hyperexcitability disorder (PNH), which could be caused by inflammatory neuropathy. CASE REPORT: We describe a 51-year-old woman who presented with a 4-5 year history of fasciculations and painful cramping of the right thenar eminence. Electrophysiological studies showed motor conduction block in the right median nerve between the axilla and the elbow with fasciculation potentials and cramp discharges on EMG in the right abductor pollicis brevis muscle...
December 22, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27995875/-patient-reported-outcome-of-tyrosine-kinase-inhibitor-related-side-effects-and-their-impact-on-daily-life-in-chinese-patients-with-chronic-myeloid-leukemia-in-the-chronic-phase
#5
L Yu, H B Wang, Q Jiang
Objective: To explore the impact of patient reported outcome of tyrosine kinase inhibitor (TKI) related side effects on daily life in Chinese patients with chronic myeloid leukemia (CML) in the chronic phase (CP). Methods: From May to November in 2014, anonymous questionnaires were distributed to adult CML patients who were receiving TKI treatment in China. The impact of TKI-related side effects on daily life were assessed by the score of 1 (no impact) to 5 (high impact) from patient self-report. Results: Data from 731 respondents in the CP who reported the score of the impact of TKI-related side effects on daily life were collected...
November 14, 2016: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/27921050/esophagus-related-symptoms-in-first-degree-relatives-of-patients-with-achalasia-is-screening-necessary
#6
Henning R Gockel, Moritz Lesse, Johannes Schumacher, Michaela Müller, Ines Gockel
BACKGROUND: Despite an increasing understanding of the pathophysiology of achalasia, the etiology of this esophageal motility disorder remains largely unknown. However, the occurrence of familial achalasia, its association with well-defined genetic syndromes, the candidate gene approach, and recent presentation of the first systematic genome-wide association study on achalasia suggest the involvement of genetic factors. METHODS: In this study we analyzed the frequency with which symptoms associated with esophageal function (swallowing difficulties, regurgitations, retrosternal cramps/pain, heartburn) occur in first-degree relatives of patients with achalasia to determine if screening is useful and justified against the background of early diagnosis in a genetically predisposed population...
October 2016: Visceral Medicine
https://www.readbyqxmd.com/read/27906866/inherited-and-acquired-disorders-of-magnesium-homeostasis
#7
Matthias Tilmann Florian Wolf
PURPOSE OF REVIEW: Magnesium (Mg) imbalances are frequently overlooked. Hypermagnesemia usually occurs in preeclamptic women after Mg therapy or in end-stage renal disease patients, whereas hypomagnesemia is more common with a prevalence of up to 15% in the general population. Increasing evidence points toward a role for mild-to-moderate chronic hypomagnesemia in the pathogenesis of hypertension, type 2 diabetes mellitus, and metabolic syndrome. RECENT FINDINGS: The kidneys are the major regulator of total body Mg homeostasis...
November 30, 2016: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/27905363/-sleep-disorders-in-the-early-stage-of-parkinson-s-disease-in-untreated-patients
#8
N A Amosova, I G Smolentseva, P M Guseinova, O A Maslyuk, E L Gavrilov
Disorders of sleep and wakefulness occur in about 60-98% of patients with Parkinson's disease (PD). The majority of research on the scale and nature of the disorders was performed in patients treated with antiparkinsonian drugs, and, therefore, the true picture of sleep disorders was interfering with side effects of therapy. The spectrum of these disorders in PD patients is broad and includes insomnia, parasomnia and hypersomnia. The main symptoms of insomnia are difficulty in maintaining sleep, associated with nocturia, rapid eye movement (REM) sleep behavior disorder (RBD), night cramps, akinesia and tremor...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27898361/movement-symptoms-in-european-moyamoya-angiopathy-first-systematic-questionnaire-study
#9
Markus Kraemer, Leonidas Trakolis, Jens Platzen, Jan Claudius Schwitalla, Anna Bersano, Philipp Albrecht, Marc Schlamann, Peter Berlit
OBJECTIVE: Movement disorders are a rare manifestation of Moyamoya angiopathy (MMA). Data on prevalence and clinical presentation are warranted. Possible involuntary movements include focal motor seizures, tremor, limb-shaking transient ischemic attacks, choreiform and spastic or dystonic movement disorders. PATIENTS AND METHODS: We developed a questionnaire to systematically assess movement disorders in MMA. Patients' history of involuntary movements and their clinical presentation were assessed systematically by interview...
January 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/27878516/axonal-excitability-in-amyotrophic-lateral-sclerosis-axonal-excitability-in-als
#10
REVIEW
Susanna B Park, Matthew C Kiernan, Steve Vucic
Axonal excitability testing provides in vivo assessment of axonal ion channel function and membrane potential. Excitability techniques have provided insights into the pathophysiological mechanisms underlying the development of neurodegeneration and clinical features of amyotrophic lateral sclerosis (ALS) and related neuromuscular disorders. Specifically, abnormalities of Na(+) and K(+) conductances contribute to development of membrane hyperexcitability in ALS, thereby leading to symptom generation of muscle cramps and fasciculations, in addition to promoting a neurodegenerative cascade via Ca(2+)-mediated processes...
November 22, 2016: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/27861220/hereditary-neuropathy-with-liability-to-pressure-palsies-diverse-phenotypes-in-childhood
#11
Yohei Harada, Araya Puwanant, David N Herrmann
Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare autosomal-dominant disorder that most commonly produces recurrent painless focal sensory and motor neuropathies often preceded by minor, mechanical stress, or minor trauma. Herein, we report 2 pediatric cases of HNPP with atypical presentations; isolated muscle cramping and toe walking. Electrophysiologic testing disclosed multifocal sensorimotor polyneuropathy with slowing of sensory conduction velocities in both cases, which prompted PMP 22 gene deletion testing...
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27784836/a-presumptive-case-of-gluten-sensitivity-in-a-border-terrier-a-multisystem-disorder
#12
M Lowrie, M Hadjivassiliou, D S Sanders, O A Garden
Paroxysmal gluten-sensitive dyskinesia (previously termed canine epileptoid cramping syndrome) is a condition of Border terriers in which the leading manifestation is neurological. The authors describe a case they believe to represent the first report of a Border terrier with a combination of neurological signs, atopy, positive serological results for anti-transglutaminase 2 (TG2 IgA) and anti-gliadin (AGA IgG) antibodies, and signs suggestive of gastrointestinal disease with pathological changes in the gastrointestinal tract-seemingly responsive to a gluten-free diet...
December 3, 2016: Veterinary Record
https://www.readbyqxmd.com/read/27751907/assessment-of-an-electronic-intervention-in-young-women-with-heavy-menstrual-bleeding
#13
Jennifer E Dietrich, Donald L Yee, Xiomara M Santos, Jennifer L Bercaw-Pratt, Jennifer Kurkowski, Heather Soni, Youngna J Lee-Kim, Mona D Shah, Donald Mahoney, Lakshmi V Srivaths
: STUDY OBJECTIVE, DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: Bleeding disorders (BD) occur in up to 50% of adolescents with heavy menstrual bleeding (HMB). This presents unique challenges to health care providers because of the complexity of treating the condition and such complexity can result in difficulty with patients understanding basic information about their condition, limit communication with medical providers, and patient compliance. The aim of the study was to use an electronic approach to enhance patient compliance with medications used to treat their HMB, and to provide educational access to adolescents with BD...
October 15, 2016: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/27739081/chemical-identification-and-quality-evaluation-of-lycopus-lucidus-turcz-by-uhplc-q-tof-ms-and-hplc-ms-ms-and-hierarchical-clustering-analysis
#14
Qiang Ren, Lin Ding, Shan-Shan Sun, Hui-Yun Wang, Liang Qu
Lycopus lucidus Turcz has been used as a traditional phytomedicine for menstrual disorder, amenorrhea, menstrual cramps, inflammation and cardiovascular diseases. However, there is not enough information about identification and quantification for the chemical constituents of L. lucidus Turcz. In this work, a simple, rapid and sensitive UHPLC-Q-TOF-MS method was developed for characterization and identification of the phytochemical compositions in L. lucidus Turcz in negative ion mode. A total of 37 compounds, including 15 phenolic acids, 12 flavonoids, three triterpenoids and seven organic acids were tentatively characterized and identified by means of the retention time, accurate mass and characteristic fragment ions...
October 14, 2016: Biomedical Chromatography: BMC
https://www.readbyqxmd.com/read/27738992/aberrant-default-mode-network-in-patients-with-primary-dysmenorrhea-a-fmri-study
#15
Peng Liu, Yanfei Liu, Geliang Wang, Xuejuan Yang, Lingmin Jin, Jinbo Sun, Wei Qin
Primary dysmenorrhea (PDM), characterized by cramping pain in the lower abdomen, is a common gynecological disorder in women of child-bearing age. An increasing number of neuroimaging studies have emphasized that PDM is associated with functional and structural abnormalities in the regions related to the default mode network (DMN). Based on resting-state functional magnetic resonance imaging (fMRI), the aim of this study was to use amplitude of low-frequency fluctuation (ALFF) and functional connectivity (FC) to investigate changes of the intrinsic brain activity in the DMN in PDM...
October 13, 2016: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/27723714/-sleep-disorders-in-the-early-stage-of-parkinson-s-disease-in-untreated-patients
#16
N A Amosova, I G Smolentseva, P M Guseinova, O A Maslyuk, E L Gavrilov
Disorders of sleep and wakefulness occur in about 60-98% of patients with Parkinson's disease (PD). The majority of research on the scale and nature of the disorders was performed in patients treated with antiparkinsonian drugs, and, therefore, the true picture of sleep disorders was interfering with side effects of therapy. The spectrum of these disorders in PD patients is broad and includes insomnia, parasomnia and hypersomnia. The main symptoms of insomnia are difficulty in maintaining sleep, associated with nocturia, rapid eye movement (REM) sleep behavior disorder (RBD), night cramps, akinesia and tremor...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27716084/quinine-induced-simvastatin-toxicity-through-cytochrome-inhibition-a-case-report
#17
Johannes M Just, Klaus Weckbecker, Katja S Just
BACKGROUND: Nocturnal leg cramps are painful, involuntary muscle contractions commonly seen in elderly. While mostly harmless, they can severely impair quality of life and often disrupt sleep. Adverse drug effects may be responsible for a fraction of nocturnal leg cramps but often go unrecognized, resulting in additional prescribing intended to deal with adverse effects that might be better addressed by reduction, substitution, or discontinuation of the offending agent. CASE PRESENTATION: An 87 year old female presented as outpatient in family medicine with nocturnal leg cramps which had been present for five years and increasingly burdened her quality of life...
October 1, 2016: BMC Geriatrics
https://www.readbyqxmd.com/read/27696930/dopamine-drd2-polymorphism-drd2-annk1-taq1a-is-not-a-significant-risk-factor-in-writer-s-cramp
#18
Kirsten E Zeuner, Albert Acewicz, Arne Knutzen, Dirk Dressler, Katja Lohmann, Karsten Witt
Writers' cramp is a movement disorder with dystonic co-contraction of fingers and hand during writing and is part of the clinical spectrum of focal dystonias. Previous studies showed reduced striatal dopamine receptor D2 (DRD2) availability in dystonia. The expression of D2 receptors is modulated by a DRD2/ANKK1-Taq1A polymorphism (rs1800497). This study addresses the question of whether the DRD2/ANKK1-Taq1A polymorphism is a risk factor for writer's cramp. We determined the DRD2/ANKK1-Taq1A polymorphism 34 patients with writer's cramp compared to 67 age matched controls...
September 2016: Journal of Neurogenetics
https://www.readbyqxmd.com/read/27693997/mental-rotation-and-working-memory-in-musicians-dystonia
#19
Roberto Erro, Stephanie T Hirschbichler, Lucia Ricciardi, Agata Ryterska, Elena Antelmi, Christos Ganos, Carla Cordivari, Michele Tinazzi, Mark J Edwards, Kailash P Bhatia
BACKGROUND: Mental rotation of body parts engages cortical-subcortical areas that are actually involved in the execution of a movement. Musicians' dystonia is a type of focal hand dystonia that is grouped together with writer's cramp under the rubric of "occupational dystonia", but it is unclear to which extent these two disorders share common pathophysiological mechanisms. Previous research has demonstrated patients with writer's cramp to have deficits in mental rotation of body parts...
September 28, 2016: Brain and Cognition
https://www.readbyqxmd.com/read/27610352/solitary-rectal-ulcer-syndrome-is-it-really-a-rare-condition-in-children
#20
Seyed Mohsen Dehghani, Maryam Bahmanyar, Bita Geramizadeh, Anahita Alizadeh, Mahmood Haghighat
AIM: To evaluate the clinicopathologic characteristics of the children with solitary rectal ulcer. METHODS: Fifty-five children with a confirmed diagnosis of solitary rectal ulcer were studied in a period of 11 years from March 2003 to March 2014. All data were collected from the patients, their parents and medical records in the hospital. RESULTS: From 55 studied patients, 41 were male (74.5%) and 14 female (25.5%). The mean age of the patients was 10...
August 8, 2016: World Journal of Clinical Pediatrics
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