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Terence D Sanger
Dystonia is a collection of symptoms with involuntary muscle activation causing hypertonia, hyperkinetic movements, and overflow. In children, dystonia can have numerous etiologies with varying neuroanatomic distribution. The semiology of dystonia can be explained by gain-of-function failure of a feedback controller that is responsible for stabilizing posture and movement. Because postural control is maintained by a widely distributed network, many different anatomic regions may be responsible for symptoms of dystonia, although all features of dystonia can be explained by uncontrolled activation or hypersensitivity of motor cortical regions that can cause increased reflex gain, inserted postures, or sensitivity to irrelevant sensory variables...
February 28, 2018: Annual Review of Neuroscience
V V Ivanov, E E Achkasov, N M Markov, E K Krechina
The study objective was to determinate variations of stato-dynamical functional markers of postural balance system in the process of malocclusion treatment. Twenty patients aged from 14 to 30 years with class II malocclusion were recruited for this prospective study. All patients underwent electromyography of mm. temporalis and mm. maseter in rest and at maximal jaws pressure. Postural balance was evaluated by stabilometry platform and body's regions relationship was assessed by computer optical topography...
2018: Stomatologii︠a︡
Imen Ammous, Imène Zhioua Braham, Majdi Boukari, Ilhem Mili Boussen, Khalil Errais, Raja Zhioua
AIM: to analyse clinical and epidemiological characteristics of atrophic tear retinal detachment (ATRD) and evaluate anatomical and functional results. METHODS: Retrospective study of 48 cases underwent primary scleral buckling for ATRD. Mean follow up was 80,52 months. RESULTS: ATRD represented 7% of all reghmatogenous RD. Mean age of patients was 38 years and 7 months. Age was less than 40 years in 62,5% of patients. Male predominance was noted...
March 2017: La Tunisie Médicale
Marietta L van der Linden, Sadaf Jahed, Nicola Tennant, Martine H G Verheul
OBJECTIVES: RaceRunning enables athletes with limited or no walking ability to propel themselves independently using a three-wheeled running bike that has a saddle and a chest plate for support but no pedals. For RaceRunning to be included as a Para athletics event, an evidence-based classification system is required. Therefore, the aim of this study was to assess the association between a range of impairment measures and RaceRunning performance. METHODS: The following impairment measures were recorded: lower limb muscle strength assessed using Manual Muscle Testing (MMT), selective voluntary motor control assessed using the Selective Control Assessment of the Lower Extremity (SCALE), spasticity recorded using both the Australian Spasticity Assessment Score (ASAS) and Modified Ashworth Scale (MAS), passive range of motion (ROM) of the lower extremities and the maximum static step length achieved on a stationary bike (MSSL)...
February 5, 2018: Gait & Posture
E A Faqeih, M Almannai, M M Saleh, A H AlWadie, M M Samman, F S Alkuraya
The association between KCTD3 gene and neurogenetic disorders has only been published recently. In this report, we describe the clinical phenotype associated with two pathogenic variants in KCTD3 gene. Seven individuals (including one set of monozygotic twin) from four consanguineous families presented with developmental epileptic encephalopathy, global developmental delay, central hypotonia, progressive peripheral hypertonia, and variable dysmorphic facial features. Posterior fossa abnormalities (ranging from Dandy-Walker malformation to isolated hypoplasia of the cerebellar vermis) were consistently observed in addition to other variable neuroradiological abnormalities such as hydrocephalus and abnormal brain myelination...
February 6, 2018: Clinical Genetics
Zaid Aljuboori, Jacob Archer, Wei Huff, Amee Moreno, Andrew Jea
Intrathecal baclofen has been suggested as an effective and safe treatment for intractable spasticity and dystonia. Techniques of lumbar and intraventricular catheter placement have been previously described. The purpose of this study was to describe a technique to implant catheters for intrathecal baclofen infusion through C1-2 puncture. Four of 5 consecutively treated patients underwent successful placement of catheters for intrathecal baclofen. There were no instances of infection, CSF leak, or catheter migration seen during a follow-up period of at least 6 months; furthermore, there were no occurrences of vertebral artery or spinal cord injury...
January 26, 2018: Journal of Neurosurgery. Pediatrics
Peck Yee Liew, Kirsty Stewart, Debra Khan, Sarah Jane Arnup, Adam Scheinberg
AIM: To determine whether intrathecal baclofen (ITB) therapy improves performance and performance satisfaction in goal areas identified by patients' parents. METHOD: This study formed part of an ongoing multicentre national audit involving six paediatric ITB pump implant centres across Australia. The Canadian Occupational Performance Measure was the primary outcome measure utilized at baseline, 6 months, and 12 months after pump implants in paediatric patients receiving ITB therapy for the first time between 31st December 2009 and 31st December 2014...
January 19, 2018: Developmental Medicine and Child Neurology
Sertac Yetiser
Hypoglossal-facial anastomosis provides excellent motor supply to the mimetic muscles of the face when there is no chance of recovery of the damaged facial nerve. However, to achieve optimal results, the timing of facial nerve surgery based on electrophysiological testing and clinical evaluation requires close follow-up of the patient. Functional results after delayed surgery are not predictable and depend on the number of surviving fibers, type of injury, severity of damage, degree of infiltration of inflammatory cells, and local fibrosis...
December 27, 2017: Journal of Craniofacial Surgery
M Del Mar Aguilar, Pedro Moya, M José Alcaide, Alba Fernández, M Amparo Gómez, Jair Santos, Rafael Calpena, Antonio Arroyo
INTRODUCTION: The treatment of chronic anal fissure (FAC) differs depending on the professional. To come to a consensus, the current situation in Spain should be studied. The aim of this study is to evaluate the current situation of the management of FAC in Spanish hospitals. METHODS: Descriptive study, with data from a survey of surgeons of the Spanish Association of Coloproctology. Data was collected according to the doctor's autonomous community, type of hospital and professional category; FAC management data and 3 clinical cases...
December 12, 2017: Cirugía Española
Géraldine Martens, Steven Laureys, Aurore Thibaut
Background: Spasticity is a motor disorder frequently encountered after a lesion involving the central nervous system. It is hypothesized to arise from an anarchic reorganization of the pyramidal and parapyramidal fibers and leads to hypertonia and hyperreflexia of the affected muscular groups. While this symptom and its management is well-known in patients suffering from stroke, multiple sclerosis or spinal cord lesion, little is known regarding its appropriate management in patients presenting disorders of consciousness after brain damage...
December 9, 2017: Brain Sciences
Tomohiro Kumada, Katsumi Imai, Yukitoshi Takahashi, Shin Nabatame, Hirokazu Oguni
BACKGROUND: In Japan, Meiji 817-B (M817-B), a powdered ketogenic milk, has been available since the ketogenic diet was introduced to infants and tube-fed children with medication-resistant epilepsy in the 1980s. METHODS: We retrospectively evaluated the efficacy, tolerability, and side effects of the ketogenic diet using M817-B as the main source of daily food intake for patients with epilepsy by sending questionnaires to the members of a subcommittee of the Japan Epilepsy Society that focuses on the proper use of M817-B...
March 2018: Brain & Development
Nickolas J Nahm, H Kerr Graham, Mark E Gormley, Andrew G Georgiadis
PURPOSE OF REVIEW: The review provides an update on the treatment of hypertonia in cerebral palsy, including physical management, pharmacotherapy, neurosurgical, and orthopedic procedures. RECENT FINDINGS: Serial casting potentiates the effect of Botulinum neurotoxin A injections for spasticity. Deep brain stimulation, intraventricular baclofen, and ventral and dorsal rhizotomy are emerging tools for the treatment of dystonia and/or mixed tone. The long-term results of selective dorsal rhizotomy and the timing of orthopedic surgery represent recent advances in the surgical management of hypertonia...
February 2018: Current Opinion in Pediatrics
Kirsty Stewart, Emma Tavender, James Rice, Adrienne Harvey
AIM: The aims of this study were to investigate clinicians' knowledge, and barriers they perceive exist, relating to the identification and measurement of dyskinesia (dystonia/choreoathetosis) in children with cerebral palsy (CP) and to explore educational needs regarding improving identification and assessment of dyskinesia. METHODS: This was a cross-sectional online survey of clinicians working with children with CP. Data analysis was descriptive, with qualitative analysis of unstructured questions...
October 31, 2017: Journal of Paediatrics and Child Health
Andreas Hermann, Hagen H Kitzler, Tobias Pollack, Saskia Biskup, Stefanie Krüger, Claudia Funke, Caterina Terrile, Tobias B Haack
BACKGROUND: Static encephalopathy of childhood with neurodegeneration in adulthood is a phenotypically distinctive, X-linked dominant subtype of neurodegeneration with brain iron accumulation (NBIA). WDR45 mutations were recently identified as causal. WDR45 encodes a beta-propeller scaffold protein with a putative role in autophagy, and the disease has been renamed beta-propeller protein-associated neurodegeneration (BPAN). CASE REPORT: Here we describe a female patient suffering from a classical BPAN phenotype due to a novel heterozygous deletion of WDR45...
2017: Tremor and Other Hyperkinetic Movements
Shaza M Musa, Ishag Adam, Nada G Hassan, Duria A Rayis, Mohamed F Lutfi
Labor necessitates continuous adjustments of cardiac autonomic reflexes by alternate activation of the sympathetic and parasympathetic nervous systems. The division of the autonomic nervous system (ANS) that predominates during the first stage of labor is unclear and needs to be further investigated. The study aimed to compare heart rate variability (HRV) in pregnant women in the third trimester with those during the first stage of labor. We conducted a case-control study at Saad Abul Ela Maternity Hospital, Khartoum, Sudan...
2017: Frontiers in Physiology
Robert Dymarek, Kuba Ptaszkowski, Lucyna Słupska, Małgorzata Paprocka-Borowicz, Jakub Taradaj, Tomasz Halski, Joanna Rosińczuk
Cerebrovascular diseases based on stroke etiology concern millions of people worldwide, and annual rates of disease are still increasing. In the era of an aging society and suffering from a number of risk factors, in particular those modifiable, strokes and muscles' spastic paresis, subsequently resulting in damage of upper motor neuron structures will become a serious problem for the entire health care system. Effective management and physiotherapy treatment for post-stroke spasticity persisted, both in the acute and chronic, is still a significant medical problem in the interdisciplinary aspect...
2017: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
Antonio Carlos Valezi, Fernando Augusto Herbella, Jorge Mali-Junior, Mariano de Almeida Menezes, Mário Liberatti, Rafael Onuki Sato
BACKGROUND: Sleeve gastrectomy may alter esophageal motility and lower esophageal sphincter pressure. AIM: To detect manometric changings in the esophagus and lower esophageal sphincter before and after sleeve gastrectomy in order to select patients who could develop postoperative esophageal motilitity disorders and lower esophageal sphincter pressure modifications. METHODS: Seventy-three patients were selected. All were submitted to manometry before the operation and one year after...
July 2017: Arquivos Brasileiros de Cirurgia Digestiva: ABCD, Brazilian Archives of Digestive Surgery
Lucio Marinelli, Antonio Currà, Carlo Trompetto, Elisabetta Capello, Carlo Serrati, Francesco Fattapposta, Elisa Pelosin, Chetan Phadke, Claire Aymard, Luca Puce, Franco Molteni, Giovanni Abbruzzese, Fabio Bandini
BACKGROUND: Spasticity and spastic dystonia are two separate phenomena of the upper motor neuron syndrome. Spasticity is clinically defined by velocity-dependent hypertonia and tendon jerk hyperreflexia due to the hyper-excitability of the stretch reflex. Spastic dystonia is the inability to relax a muscle leading to a spontaneous tonic contraction. Both spasticity and spastic dystonia are present in patients who are at rest; however, only patients with spasticity are actually able to kept their muscles relaxed prior to muscle stretch...
December 2017: Journal of Electromyography and Kinesiology
Helena Claerhout, Peter Witters, Luc Régal, Katrien Jansen, Marie-Rose Van Hoestenberghe, Jeroen Breckpot, Pieter Vermeersch
Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe neurological impairment. As no long-term effective treatment is available, distinction from other treatable diseases, such as molybdenum cofactor deficiency (MoCD) type A, should be made. We reviewed 47 patients (45 previously reported in the literature). Cases were reviewed for consanguinity, sex, age at onset, death, clinical findings (including spasticity, seizures, psychomotor retardation, feeding difficulties, ectopia lentis, microcephaly), laboratory findings [urinary sulfite, S-sulfocysteine (in plasma and urine), plasma cystine, total homocysteine, uric acid, and oxypurines in urine] and radiological findings (including cerebral/cerebellar atrophy, cystic white matter changes, ventriculomegaly)...
January 2018: Journal of Inherited Metabolic Disease
Crystal A Lee, Lih-Shen Chin, Lian Li
Hypertonia is a neurological dysfunction associated with a number of central nervous system disorders, including cerebral palsy, Parkinson's disease, dystonia, and epilepsy. Genetic studies have identified a homozygous truncation mutation in Trak1 that causes hypertonia in mice. Moreover, elevated Trak1 protein expression is associated with several types of cancers and variants in Trak1 are linked to childhood absence epilepsy in humans. Despite the importance of Trak1 in health and disease, the mechanisms of Trak1 action remain unclear and the pathogenic effects of Trak1 mutation are unknown...
September 18, 2017: Protein & Cell
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