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https://www.readbyqxmd.com/read/28533005/risk-factors-for-daytime-or-combined-incontinence-in-children-with-cerebral-palsy
#1
Bieke Samijn, Christine Van den Broeck, Ellen Deschepper, Catherine Renson, Piet Hoebeke, Frank Plasschaert, Johan Vande Walle, Erik Van Laecke
PURPOSE: To identify risk factors for daytime or combined urinary incontinence (UI) in children with cerebral palsy (CP). MATERIALS AND METHODS: A cross-sectional case-control study was conducted including children with CP with or without UI from the CP-Reference Centre at *** (blinded for review) and two associated special education schools. Factors were subdivided in three clusters, namely demographic and general medical data, CP classification and bladder and bowel dysfunction...
May 19, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28527175/chorea-and-orofaciolingual-dystonia-in-a-40-year-old-male
#2
Lulup Kumar Sahoo, Kali Prasanna Swain, Ashok Kumar Mallick, Geeta Mohanty, Maheswar Samanta, Srikanta Kumar Sahoo
Neuroacanthocytosis is a heterogeneous group of disorders which result in progressive neurodegeneration, predominantly of the basal ganglia, and erythrocyte acanthocytosis. We report a case of neuroacanthocytosis with typical phenotype of choreoacanthocytosis. A 40 year male presented with features of chorea with orofaciolingual dystonia producing eating and speech difficulties. There were features of self mutilation in form of lip and tongue biting. Peripheral blood smear examination revealed acanthocytes in our patient...
April 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28525812/clinical-characteristics-and-prrt2-gene-mutation-analysis-of-sporadic-patients-with-paroxysmal-kinesigenic-dyskinesia-in-china
#3
Yu Zhang, Lin Li, Wei Chen, Jing Gan, Zhen Guo Liu
OBJECTIVE: As a rare type of movement disorder, paroxysmal kinesigenic dyskinesia mainly affects children and is associated with PRRT2 gene mutation. The objective of our study is to identify whether the sporadic patients share the same genotype-phenotype correlations as familial patients in China. PATIENTS AND METHODS: We investigated the clinical characteristics and PRRT2 gene mutations of 15 sporadic patients with paroxysmal kinesigenic dyskinesia in china. The clinical and investigational data of our patients was recorded and analyzed meticulously...
May 8, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28525628/modulation-of-the-muscle-activity-during-sleep-in-cervical-dystonia
#4
E Antelmi, R Ferri, F Provini, C Scaglione, F Mignani, F Rundo, S Vandi, M Fabbri, F Pizza, G Plazzi, P Martinelli, R Liguori
Introduction: Impaired sleep has been reported as an important non-motor feature in dystonia, but so far, subjective complaints have never been compared with nocturnal video-polysomnographic recording, which is the gold standard to assess sleep-related disorders. Methods: Twenty patients with idiopathic isolated cervical dystonia and 22 healthy controls underwent extensive clinical investigations, neurological examination and questionnaires screening for excessive daytime sleepiness and sleep-related disorders...
May 19, 2017: Sleep
https://www.readbyqxmd.com/read/28520167/kmt2b-rare-missense-variants-in-generalized-dystonia
#5
Michael Zech, Robert Jech, Petra Havránková, Anna Fečíková, Riccardo Berutti, Dušan Urgošík, David Kemlink, Tim M Strom, Jan Roth, Evžen Růžička, Juliane Winkelmann
BACKGROUND: Recently a novel syndrome of childhood-onset generalized dystonia originating from mutations in lysine-specific methyltransferase 2B (KMT2B) has been reported. METHODS: We sequenced the exomes of 4 generalized dystonia-affected probands recruited from a Prague movement disorders center (Czech Republic). Bioinformatics analyses were conducted to select candidate causal variants in described dystonia-mutated genes. After cosegregation testing, checklists from the American College of Medical Genetics and Genomics were adopted to judge variant pathogenicity...
May 18, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28516949/paroxysmal-nocturnal-haemoglobinuria
#6
REVIEW
Anita Hill, Amy E DeZern, Taroh Kinoshita, Robert A Brodsky
Paroxysmal nocturnal haemoglobinuria (PNH) is a clonal haematopoietic stem cell (HSC) disease that presents with haemolytic anaemia, thrombosis and smooth muscle dystonias, as well as bone marrow failure in some cases. PNH is caused by somatic mutations in PIGA (which encodes phosphatidylinositol N-acetylglucosaminyltransferase subunit A) in one or more HSC clones. The gene product of PIGA is required for the biosynthesis of glycosylphosphatidylinositol (GPI) anchors; thus, PIGA mutations lead to a deficiency of GPI-anchored proteins, such as complement decay-accelerating factor (also known as CD55) and CD59 glycoprotein (CD59), which are both complement inhibitors...
May 18, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28515949/cerebellum-an-explanation-for-dystonia
#7
REVIEW
Matteo Bologna, Alfredo Berardelli
Dystonia is a movement disorder that is characterized by involuntary muscle contractions, abnormal movements and postures, as well as by non-motor symptoms, and is due to abnormalities in different brain areas. In this article, we focus on the growing number of experimental studies aimed at explaining the pathophysiological role of the cerebellum in dystonia. Lastly, we highlight gaps in current knowledge and issues that future research studies should focus on as well as some of the potential applications of this research avenue...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28515706/research-priorities-in-limb-and-task-specific-dystonias
#8
REVIEW
Sarah Pirio Richardson, Eckart Altenmüller, Katharine Alter, Ron L Alterman, Robert Chen, Steven Frucht, Shinichi Furuya, Joseph Jankovic, H A Jinnah, Teresa J Kimberley, Codrin Lungu, Joel S Perlmutter, Cecília N Prudente, Mark Hallett
Dystonia, which causes intermittent or sustained abnormal postures and movements, can present in a focal or a generalized manner. In the limbs, focal dystonia can occur in either the upper or lower limbs and may be task-specific causing abnormal motor performance for only a specific task, such as in writer's cramp, runner's dystonia, or musician's dystonia. Focal limb dystonia can be non-task-specific and may, in some circumstances, be associated with parkinsonian disorders. The true prevalence of focal limb dystonia is not known and is likely currently underestimated, leaving a knowledge gap and an opportunity for future research...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28514402/-psychoemotional-and-autonomic-states-in-patients-with-cholelithiasis
#9
Ya M Vakhrushev, N A Khokhlacheva, N N Sergeeva
AIM: To investigate the psychoemotional and autonomic states of patients with biliary system diseases and to determine their significance in the development of cholelithiasis. SUBJECTS AND METHODS: A total of 396 patients with stage 1 cholelithiasis were examined. The results of hepatobiliary ultrasonography, multifractional duodenal probing, followed by macroscopic, microscopic, and biochemical examinations of bile (the total concentration of bile acids and cholesterol, by subsequently calculating the cholate-cholesterol ratio) were used to verify the diagnosis...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28511835/adcy5-related-movement-disorders-frequency-disease-course-and-phenotypic-variability-in-a-cohort-of-paediatric-patients
#10
Miryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, Roser Pons, Celeste Panteghini, Giovanna Zorzi, Federica Zibordi, Anastasios Bonakis, Argyris Dinopoulos, Joseph Jankovic, Leonidas Stefanis, Kailash P Bhatia, Valentina Monti, Lea R'Bibo, Liana Veneziano, Barbara Garavaglia, Carlo Fusco, Nicholas Wood, Maria Stamelou, Nardo Nardocci
INTRODUCTION: ADCY5 mutations have been recently identified as an important cause of early-onset hyperkinetic movement disorders. The phenotypic spectrum associated with mutations in this gene is expanding. However, the ADCY5 mutational frequency in cohorts of paediatric patients with hyperkinetic movement disorders has not been evaluated. METHODS: We performed a screening of the entire ADCY5 coding sequence in 44 unrelated subjects with genetically undiagnosed childhood-onset hyperkinetic movement disorders, featuring chorea alone or in combination with myoclonus and dystonia...
May 10, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28511126/endophenotyping-in-idiopathic-adult-onset-cervical-dystonia
#11
Georg Kägi, Diane Ruge, Florian Brugger, Petra Katschnig, Rafael Sauter, Mirta Fiorio, Michele Tinazzi, John Rothwell, Kailash P Bhatia
OBJECTIVE: Idiopathic adult onset cervical dystonia (IAOCD) is considered to be a partially penetrant autosomal dominant genetic condition. Dystonia may result from genetic and environmental factors. In this view, part of the physiology should be an endophenotype stemming from the genetic background. We assessed the most discriminative test to separate patients with IAOCD and healthy controls for further endophenotyping in non-affected 1st degree relatives. METHODS: We included patients with IAOCD, their 1st degree relatives and healthy controls...
April 23, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28510682/musician-s-focal-dystonia
#12
Joanna White
No abstract text is available yet for this article.
May 16, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28507829/bupropion-induced-acute-dystonia-with-dose-escalation-and-use-of-naranjo-nomogram
#13
Nawal Wasif, Komal Wasif, Muhammad W Saif
Acute drug-induced dystonia is commonly associated with antipsychotic drugs, antidepressants, antiemetics, and other medications. Bupropion (Wellbutrin and Zyban) is one of the most frequently prescribed antidepressants in the United States and Canada and smoking cessation aid. However, only few reported cases have been published of acute dystonia including dystonia after discontinuation of bupropion and even after a single dose of bupropion. Here, we report another case concerning an acute dystonia resulting from bupropion after dose escalation...
April 12, 2017: Curēus
https://www.readbyqxmd.com/read/28505262/the-basal-ganglia-striosomes-affect-the-modulation-of-conflicts-by-subliminal-information-evidence-from-x-linked-dystonia-parkinsonism
#14
Christian Beste, Moritz Mückschel, Raymond Rosales, Aloysius Domingo, Lillian Lee, Arlene Ng, Christine Klein, Alexander Münchau
Cognitive control is relevant when distracting information induces behavioral conflicts. Such conflicts can be produced consciously and by subliminally processed information. Interestingly, both sources of conflict interact suggesting that they share neural mechanisms. Here, we ask whether conjoint effects between different sources of conflict are modulated by microstructural basal ganglia dysfunction. To this end, we carried out an electroencephalography study and examined event-related potentials (ERPs) including source localization using a combined flanker-subliminal priming task in patients with X-linked dystonia Parkinsonism (XDP) and a group of healthy controls...
May 13, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28504361/alterations-of-resting-state-fmri-measurements-in-individuals-with-cervical-dystonia
#15
Zhihao Li, Cecília N Prudente, Randall Stilla, K Sathian, H A Jinnah, Xiaoping Hu
Cervical dystonia (CD) is a neurological disorder with typical symptoms of involuntary and abnormal movements and postures of the head. CD-associated alterations of functional brain networks have not been well characterized. Previous studies of CD using resting-state functional MRI (rfMRI) are limited in two aspects: (i) the analyses were not directly focused on the functional brain network related to head movement and (ii) rfMRI measurements other than functional connectivity (FC) were not investigated. The present study examined alterations of FC in CD by capitalizing on newly identified brain regions supporting isometric head rotation (Prudente et al...
May 15, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28503362/a-case-of-myoclonus-dystonia-responding-to-low-frequency-pallidal-stimulation
#16
Harini Sarva, Joan Miravite, Matthew C Swan, Andres Deik, Deborah Raymond, William Lawrence Severt, Brian H Kopell
BACKGROUND: High-frequency pallidal stimulation has been shown to improve various types of dystonia, including myoclonus-dystonia. CASE REPORT: We report a case of epsilon sarcoglycan mutation-negative myoclonus-dystonia with response to low-frequency bilateral pallidal stimulation. DISCUSSION: Low-frequency pallidal stimulation provides an effective means of treating various dystonias, regardless of genetic status, as in our case, as it provides increased programming options with fewer adverse effects...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28488652/microcephaly-with-generalized-dystonia-exception-to-the-rule
#17
Lokesh Saini, Biswaroop Chakrabarty, Atin Kumar, Sheffali Gulati
No abstract text is available yet for this article.
May 2017: Neurology India
https://www.readbyqxmd.com/read/28488616/sensory-tricks-in-dystonia-phenomenology-and-mechanisms
#18
Pooja Mailankody, Pramod Kumar Pal
No abstract text is available yet for this article.
May 2017: Neurology India
https://www.readbyqxmd.com/read/28488615/sensory-tricks-in-primary-blepharospasm-and-idiopathic-cervical-dystonia
#19
Sanjay Pandey, Gulab Soni, Neelav Sarma
OBJECTIVE: To study the frequency, types, phenomenology, and effectiveness of sensory tricks in patients with primary blepharospasm and idiopathic cervical dystonia. BACKGROUND: Sensory tricks are maneuvers seen in patients with dystonia, which are used to temporarily reduce the severity of dystonic postures. In different types of dystonia, the frequency of sensory tricks have been described to range from 17-89%. MATERIALS AND METHODS: In this cross-sectional observational study, we analyzed the frequency, types, phenomenology, and effectiveness of sensory tricks in 20 patients with primary blepharospasm and 20 patients with idiopathic cervical dystonia, respectively...
May 2017: Neurology India
https://www.readbyqxmd.com/read/28488071/erratum-to-correlation-of-electrode-position-and-clinical-outcomes-in-globus-pallidus-stimulation-for-dystonia
#20
Hye Ran Park, Jae Min Lee, Gwanhee Ehm, Hui-Jun Yang, In Ho Song, Yong Hoon Lim, Mi-Ryoung Kim, Keyoung Ran Kim, Woong-Woo Lee, Young Eun Kim, Jae Ha Hwang, Chae Won Shin, Hyeyoung Park, Jin Wook Kim, Han-Joon Kim, Cheolyoung Kim, Dong Gyu Kim, Beom Seok Jeon, Sun Ha Paek
No abstract text is available yet for this article.
May 10, 2017: Acta Neurochirurgica
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