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Dystonia review

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https://www.readbyqxmd.com/read/28629633/atypical-pantothenate-kinase-associated-neurodegeneration-clinical-description-of-two-brothers-and-a-review-of-the-literature
#1
S Mahoui, A Benhaddadi, W Ameur El Khedoud, M Abada Bendib, M Chaouch
Two clinical forms of pantothenate kinase-associated neurodegeneration (PKAN) have been described: typical PKAN and atypical PKAN. Atypical PKAN has later onset and a slower course of disease. This report describes two siblings with the atypical form of PKAN, combining dystonia, irritability and a dysmorphia syndrome. In addition, a review of the literature was carried out for all published cases of atypical PKAN to gather descriptions of its various clinical presentations, age of onset and MRI findings, and to highlight the different treatments used for PKAN patients...
June 16, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28627117/the-cognitive-features-of-idiopathic-and-dyt1-dystonia
#2
REVIEW
Marjan Jahanshahi, Mariam Torkamani
Dystonia is a common movement disorder. In this paper, we review the literature on cognitive function in idiopathic and DYT1 dystonia. In idiopathic or DYT1 dystonia, cognition is largely intact with only isolated executive dysfunction. Dystonia patients also have increased temporal and spatial discrimination thresholds, considered endophenotypes of the disorder because deficits are also shown by unaffected relatives and nonmanifesting carriers of the DYT1 mutation. Anticholinergic medication in high doses can be associated with memory impairment in dystonia...
June 19, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28620849/clinical-management-of-dystonia-in-childhood
#3
REVIEW
Quyen N Luc, Jyes Querubin
Dystonia is one of the most frequent movement disorders in childhood. It can impede normal motor development and cause significant motor disability. The diagnostic evaluation of childhood dystonia is challenging due to the phenotypic variability and heterogeneous etiologies. Evidence to guide the diagnostic evaluation and treatment is limited. Assessment is primarily directed by clinical history and distinctive examination findings. Neuroimaging is typically necessary to evaluate for acquired or complex inherited dystonias...
June 15, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28620630/etiology-diagnosis-and-management-of-oromandibular-dystonia-an-update-for-stomatologists
#4
REVIEW
Saeed Raoofi, Hooman Khorshidi, Maryam Najafi
Oromandibular dystonia (OMD) is a rare focal neurological disorder that affects mouth, face, and jaws. This comprehensive literature review aimed to summarize the current evidence for etiology, diagnosis, and management of OMD and assess the possibility of dental origin of the disease and dental treatment plans for these patients. Different online databases namely PubMed, Google scholar, and Scopus were searched. The keywords "oromandibular dystonia", "orofaciomandibular dystonia", "orofacial-buccal dystonia", "lingual dystonia", "jaw dystonia", "cranial dystonia", and "adult-onset facial dystonia" were searched in the title and abstract of publications from 1970 to 2016...
June 2017: Journal of Dentistry
https://www.readbyqxmd.com/read/28615985/treatment-of-movement-disorders-with-focused-ultrasound
#5
REVIEW
Paul S Fishman, Victor Frenkel
Although the use of ultrasound as a potential therapeutic modality in the brain has been under study for several decades, relatively few neuroscientists or neurologists are familiar with this technology. Stereotactic brain lesioning had been widely used as a treatment for medically refractory patients with essential tremor (ET), Parkinson disease (PD), and dystonia but has been largely replaced by deep brain stimulation (DBS) surgery, with advantages both in safety and efficacy. However, DBS is associated with complications including intracerebral hemorrhage, infection, and hardware malfunction...
2017: Journal of Central Nervous System Disease
https://www.readbyqxmd.com/read/28614956/interventions-for-treating-hyperemesis-gravidarum-a-cochrane-systematic-review-and-meta-analysis
#6
Rupsa C Boelig, Samantha J Barton, Gabriele Saccone, Anthony J Kelly, Steven J Edwards, Vincenzo Berghella
INTRODUCTION: While nausea and vomiting in early pregnancy are very common, affecting approximately 80% of pregnancies, hyperemesis gravidarum is a severe form affecting 0.3-1.0% of pregnancies. Although hyperemesis gravidarum is rarely a source of mortality, it is a significant source of morbidity. It is one of the most common indications for hospitalization in pregnancy. Beyond the maternal and fetal consequences of malnutrition, the severity of hyperemesis symptoms causes a major psychosocial burden leading to depression, anxiety, and even pregnancy termination...
June 14, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28604158/a-stepwise-approach-decreasing-infection-in-deep-brain-stimulation-for-childhood-dystonic-cerebral-palsy
#7
Stephen J Johans, Kevin N Swong, Ryan C Hofler, Douglas E Anderson
Dystonia is a movement disorder characterized by involuntary muscle contractions, which cause twisting movements or abnormal postures. Deep brain stimulation has been used to improve the quality of life for secondary dystonia caused by cerebral palsy. Despite being a viable treatment option for childhood dystonic cerebral palsy, deep brain stimulation is associated with a high rate of infection in children. The authors present a small series of patients with dystonic cerebral palsy who underwent a stepwise approach for bilateral globus pallidus interna deep brain stimulation placement in order to decrease the rate of infection...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28600040/anti-n-methyl-d-aspartate-receptor-nmdar-encephalitis-during-pregnancy-clinical-analysis-of-reported-cases
#8
Yan-Chao Shi, Xiu-Ju Chen, Hong-Mei Zhang, Zhen Wang, Da-Yong Du
OBJECTIVE: To analyze the clinical features of 13 pregnant patients with anti-N-Methyl-d-Aspartate receptor (NMDAR) encephalitis. MATERIALS AND METHODS: Retrospective review of thirteen reported cases was conducted for anti-NMDAR encephalitis patients during pregnancy. The clinical data were collected from papers published in PubMed prior to 16 February 2016. Statistical analysis of the data was performed, which encompasses the patients' age, past medical history, onset of symptoms, concomitant with ovarian teratomas, immunotherapy, outcomes of mothers and newborns...
June 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28590521/seventy-years-with-the-globus-pallidus-pallidal-surgery-for-movement-disorders-between-1947-and-2017
#9
REVIEW
Laura Cif, Marwan Hariz
The year 2017 marks the 70th anniversary of the birth of human stereotactic neurosurgery. The first procedure was a pallidotomy for Huntington's disease. However, it was for Parkinson's disease that pallidotomy was soon adopted worldwide. Pallidotomy was abandoned in the late 1950s in favor of thalamotomy because of the latter's more striking effect on tremor. The advent of levodopa put a halt to all surgery for PD. In the mid-1980s, Laitinen reintroduced the posteroventral pallidotomy of Leksell, and this procedure spread worldwide thanks to its efficacy on most parkinsonian symptoms including levodopa-induced dyskinesias and thanks to basic scientific work confirming the role of the globus pallidus internus in the pathophysiology of PD...
June 7, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28580062/dermoid-of-the-oral-cavity-case-report-with-histopathology-correlation-and-review-of-literature
#10
Hanisha Patel, Jonathan Mayl, Bhawna Chandra, Cedric Pritchett, Tushar Chandra
Dermoid cysts are rare masses of the oral cavity derived from ectodermal elements. These are benign, slow-growing tumors that are typically asymptomatic but cause complications of inflammation or dysphagia, dystonia, and airway encroachment due to mass effects. We report the case of a 17 year old female with a painless mass in the left side of the oral cavity. Ultrasound findings demonstrated non-specific findings of a cystic lesion, and definite diagnosis was made with contrast-enhanced CT and intraoperatively with pathologic confirmation...
December 2016: Journal of Radiology Case Reports
https://www.readbyqxmd.com/read/28566775/orthopedic-surgery-in-cerebral-palsy-instructional-course-lecture
#11
Deepak Sharan
Orthopedic surgery (OS) plays an important role in the management of cerebral palsy (CP). The objectives of OS are to optimize functions and prevent deformity. Newer developments in OS for CP include emphasis on hip surveillance, minimally invasive procedures, use of external fixators instead of plates and screws, better understanding of lever arm dysfunctions (that can only be corrected by bony OS), orthopedic selective spasticity-control surgery, and single-event multilevel lever arm restoration and anti spasticity surgery, which have led to significant improvements in gross motor function and ambulation, especially in spastic quadriplegia, athetosis, and dystonia...
May 2017: Indian Journal of Orthopaedics
https://www.readbyqxmd.com/read/28543038/central-voice-production-and-pathophysiology-of-spasmodic-dysphonia
#12
REVIEW
Niv Mor, Kristina Simonyan, Andrew Blitzer
OBJECTIVE: Our ability to speak is complex, and the role of the central nervous system in controlling speech production is often overlooked in the field of otolaryngology. In this brief review, we present an integrated overview of speech production with a focus on the role of central nervous system. The role of central control of voice production is then further discussed in relation to the potential pathophysiology of spasmodic dysphonia (SD). DATA SOURCES: Peer-review articles on central laryngeal control and SD were identified from PUBMED search...
May 23, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28536875/-genetic-risk-variants-in-parkinson-s-disease-and-other-movement-disorders
#13
REVIEW
K Brockmann, K Lohmann
Movement disorders are often genetically complex with genetic risk factors playing a major role. For example, monogenic causes of Parkinson's disease (PD) can be found in only 2-5% of patients who often have an early onset (<40 years). In the majority of patients, common genetic variants seem to contribute to the disease risk. To date, 24 genetic risk factors have been identified. For restless legs syndrome (RLS), six different risk variants have been reported but no monogenic cause is known yet. For the genetic risk factors of essential tremor and dystonia, which are less well studied, only five and two candidate variants, respectively, have been described but their roles still require independent confirmation...
May 23, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28533005/risk-factors-for-daytime-or-combined-incontinence-in-children-with-cerebral-palsy
#14
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/28485494/a-systematic-review-of-scales-to-measure-dystonia-and-choreoathetosis-in-children-with-dyskinetic-cerebral-palsy
#15
REVIEW
Kirsty Stewart, Adrienne Harvey, Leanne M Johnston
AIM: To identify and systematically review the psychometric properties and clinical utility of dystonia and choreoathetosis scales reported for children with cerebral palsy (CP). METHOD: Six electronic databases were searched for dystonia and choreoathetosis scales with original psychometric data for children with CP aged 0 to 18 years. RESULTS: Thirty-four papers met the inclusion criteria, which contained six scales purported to measure dystonia and/or choreoathetosis in children with CP: the Burke-Fahn-Marsden Dystonia Rating Scale; Barry-Albright Dystonia Scale; Unified Dystonia Rating Scale; Movement Disorder-Childhood Rating Scale; Movement Disorder-Childhood Rating Scale 0-3 Years; and the Dyskinesia Impairment Scale...
May 9, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28465830/economics-of-botulinum-toxin-therapy-influence-of-the-abobotulinumtoxina-package-size-on-the-costs-of-botulinum-toxin-therapy
#16
Dirk Dressler, Fereshte Adib Saberi
BACKGROUND: AbobotulinumtoxinA (Dysport®) was distributed for many years in vials containing 500MU (D500). Recently a new 300MU vial (D300) was additionally introduced (introduction). We wanted to explore whether more differentiated package sizes allow for more economic use of Dysport® in a large neurological botulinum toxin (BT) outpatient clinic. METHODS: The study followed a retrospective chart review design based on our digital BT therapy data bank. All patients receiving Dysport® exclusively in a constant dose during the observation period (introduction ± 7 months) were included...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28464773/the-role-of-atypical-antipsychotics-in-sexuality-road-to-recovery-in-schizophrenia
#17
Raja Lope Adam, Hatta Sidi, Marhani Midin, Hazli Zakaria, Srijit Das, Khairi Che Mat
Sexuality is an important dimension in human beings as a form of expression of individuality. For many decades, sexual functioning has been a neglected area among patients suffering from schizophrenia. It was a presumption that patients with schizophrenia could be asexual and this could be secondary to overwhelming situations of delusion, hallucination, hostility and negative symptoms among others. The deficient in sexual functioning are due to innate factors, i.e. negative symptoms (apathy, avolition and amotivation) and also as a result of prefrontal dysfunction, i...
May 2, 2017: Current Drug Targets
https://www.readbyqxmd.com/read/28461905/dystonic-storm-a-practical-clinical-and-video-review
#18
REVIEW
Pichet Termsarasab, Steven J Frucht
Dystonic storm is a frightening hyperkinetic movement disorder emergency. Marked, rapid exacerbation of dystonia requires prompt intervention and admission to the intensive care unit. Clinical features of dystonic storm include fever, tachycardia, tachypnea, hypertension, sweating and autonomic instability, often progressing to bulbar dysfunction with dysarthria, dysphagia and respiratory failure. It is critical to recognize early and differentiate dystonic storm from other hyperkinetic movement disorder emergencies...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28441826/-a-childhood-onset-rapid-onset-dystonia-parkinsonism-family-with-atp1a3-gene-mutation-and-literatures-review
#19
C L Zhang, F Yin, F He, N Gai, Z Q Shi, J Peng
Objective: To explore clinical characteristics, treatment, and prognosis of a family with childhood-onset rapid-onset dystonia parkinsonism (RDP) caused by ATP1A3 gene mutation and review literatures. Method: The clinical data of a RDP child, his brother and mother had been analyzed retrospectively. This family was admitted to Xiangya Hospital in January 2016. DNA samples were analyzed by the next-generation sequencing and confirmed by Sanger sequencing. Related literature from PubMed, Online Mendelian Inheritance in Man (OMIM), CNKI and Wanfang databases to date (up to October 2016) with"Rapid-onset dystonia-parkinsonism"RDP"DYT12" as key words was reviewed...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441825/-progressive-cavitating-leukoencephalopathy-four-cases-and-literatures-review
#20
C H Ren, F Fang, H Cheng, C H Ding, C H Chen, Y J Zhang, D M Shen
Objective: To analyze the clinical and genetic features of progressive cavitating leukoencephalopathy (PCL). Method: The data of clinical and genetic features of 4 PCL patients diagnosed by Beijing Children's Hospital between January 2015 and January 2016 were analyzed. The cases with complete clinical data retrieved on literature search at China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform and PubMed (up to August 2016) by using search terms of"NDUFV1" ,"NDUFS1" , or"leukoencephalopathy" , were summarized...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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