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Hypertonia

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https://www.readbyqxmd.com/read/29771161/casting-protocols-following-bont-a-injections-to-treat-spastic-hypertonia-of-the-triceps-surae-in-children-with-cerebral-palsy-and-equinus-gait-a-randomized-controlled-trial
#1
Barbara Kelly, Marilyn MacKay-Lyons, Susan Berryman, Joe Hyndman, Ellen Wood
AIM: To study the effects of single versus serial casting post-Botulinum toxin A (BoNT-A) injections on hypoextensibility of triceps surae in children, 2-7 years old, with cerebral palsy and equinus gait. METHODS: A randomized, stratified, parallel, two-group trial was conducted at a pediatric health center with assessments at baseline, precast, postcast and, 1-, 2-, and 6-month follow-ups. One week following BoNT-A injections into triceps surae muscle, a single below-knee cast (n = 10) or 3 serial casts (n = 10) were applied for 3 weeks...
May 17, 2018: Physical & Occupational Therapy in Pediatrics
https://www.readbyqxmd.com/read/29769041/cortical-atrophy-and-hypofibrinogenemia-due-to-fgg-and-tbcd-mutations-in-a-single-family-a-case-report
#2
Joshi Stephen, Sheela Nampoothiri, K P Vinayan, Dhanya Yesodharan, Preetha Remesh, William A Gahl, May Christine V Malicdan
BACKGROUND: Blended phenotypes or co-occurrence of independent phenotypically distinct conditions are extremely rare and are due to coincidence of multiple pathogenic mutations, especially due to consanguinity. Hereditary fibrinogen deficiencies result from mutations in the genes FGA, FGB, and FGG, encoding the three different polypeptide chains that comprise fibrinogen. Neurodevelopmental abnormalities have not been associated with fibrinogen deficiencies. In this study, we report an unusual patient with a combination of two independently inherited genetic conditions; fibrinogen deficiency and early onset cortical atrophy...
May 16, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29730533/establishing-the-reliability-of-a-novel-battery-of-range-of-motion-tests-to-enable-evidence-based-classification-in-para-swimming
#3
Vaughan P Nicholson, Jemima G Spathis, Luke W Hogarth, Mark J Connick, Emma M Beckman, Sean M Tweedy, Carl J Payton, Brendan J Burkett
OBJECTIVES: To evaluate the reliability of swimming-specific range of movement tests developed in order to permit evidenced-based classification in the sport of para swimming. DESIGN: Test-retest intra- and inter-examiner reliability. SETTING: International Swimming training camps and university exercise science departments. PARTICIPANTS: 42 non-disabled participants (mean age 23.2 years) and 24 Para swimmers (mean age 28...
April 30, 2018: Physical Therapy in Sport
https://www.readbyqxmd.com/read/29653221/an-atypical-phenotype-of-a-patient-with-infantile-spinal-muscular-atrophy-with-respiratory-distress-type-1-smard-1
#4
Shuiyan Wu, Ting Chen, Ying Li, Linqi Chen, Qiuqin Xu, Fei Xiao, Zhenjiang Bai
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive disease characterized by infancy-onset diaphragmatic palsy and symmetrical distal muscular weakness. SMARD1 is caused by loss-of-function mutations in IGHMBP2 gene. In this article, we report a male SMARD1 patient with two compound heterozygous mutations (NM_002180.2: c.688C > G; p.(Gln230Glu)) and (NM_002180.2: c.1737C > A; p.(Phe579Leu)), one of which (c.688C > G; ClinVar accession: SUB3344743: SCV000612189) is novel...
April 11, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29618326/a-novel-homozygous-mutation-in-polr3a-gene-causing-4h-syndrome-a-case-report
#5
Vishal V Tewari, Ritu Mehta, C M Sreedhar, Kunal Tewari, Akbar Mohammad, Neerja Gupta, Sheffali Gulati, Madhulika Kabra
BACKGROUND: 4H syndrome is a congenital hypomyelinating leukodystrophy characterized by hypodontia, hypomyelination and hypogonadotropic hypogonadism belonging to the Pol III-related leukodystrophies which arise due to mutations in the POLR3A or POLR3B gene. The clinical presentation is of neurodevelopmental delay or regression with ataxia, dystonia, nystagmus, delayed deciduous dentition and abnormal order of eruption of teeth. MRI brain shows a characteristic hypomyelination pattern...
April 4, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29597251/-appropriate-treatment-and-therapeutic-window-in-spasticity-treatment-with-incobotulinumtoxina-from-100-to-1000-units
#6
Giancarlo Ianieri, Riccardo Marvulli, Giulia Alessia Gallo, Pietro Fiore, Marisa Megna
Many neurological diseases (ischemic and hemorrhagic stroke, multiple sclerosis, infant cerebral palsy, spinal cord injuries, traumatic brain injury, and other cerebrovascular disorders) may cause muscle spasticity. Different therapeutic strategies have been proposed for the treatment of spasticity. One of the major treatments for tone modulation is botulinum toxin type A (BTX-A), performed in addition to other rehabilitation strategies based on individualized multidisciplinary programs aimed at achieving certain goals for each patient...
March 28, 2018: Toxins
https://www.readbyqxmd.com/read/29594463/traumatic-brain-injury-in-indian-children
#7
REVIEW
Krishna Chaitanya, Archana Addanki, Rajendra Karambelkar, Rakesh Ranjan
INTRODUCTION: Traumatic brain injury (TBI) in children and adolescents is a community-based medical and educational challenge world-over due to increasing urbanization and motorization. In India, children between 1 to 15 years constitute significant proportion of the total population, who are vulnerable for TBI. In developed countries, pediatric trauma mortality still represents more than half of all childhood fatalities, which is 18 times more common than brain tumors. In this study, we attempted to analyze epidemiological factors, management, and outcome of TBI in children at a tertiary care center in Pune, Maharashtra...
March 29, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29490197/basic-and-translational-neuroscience-of-childhood-onset-dystonia-a-control-theory-perspective
#8
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
https://www.readbyqxmd.com/read/29465077/-changes-of-postural-statusa-in-patients-undergoing-orthodontic-treatment
#9
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
https://www.readbyqxmd.com/read/29446816/atrophic-tear-retinal-detachment-clinical-characteristics-and-surgical-treatment-results-at-long-term
#10
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
https://www.readbyqxmd.com/read/29433091/the-influence-of-lower-limb-impairments-on-racerunning-performance-in-athletes-with-hypertonia-ataxia-or-athetosis
#11
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)...
March 2018: Gait & Posture
https://www.readbyqxmd.com/read/29406573/phenotypic-characterization-of-kctd3-related-developmental-epileptic-encephalopathy
#12
E A Faqeih, M Almannai, M M Saleh, A H AlWadei, 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 2 pathogenic variants in KCTD3 gene. Seven individuals (including one set of monozygotic twin) from 4 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...
May 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29372855/placement-of-baclofen-pump-catheter-through-a-c1-2-puncture-technical-note
#13
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...
April 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29349778/intrathecal-baclofen-therapy-in-children-an-analysis-of-individualized-goals
#14
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...
April 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29283938/immediate-hypoglossal-facial-anastomosis-in-patients-with-facial-interruption
#15
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
https://www.readbyqxmd.com/read/29246589/results-of-the-national-survey-on-the-treatment-of-chronic-anal-fissure-in-spanish-hospitals
#16
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...
January 2018: Cirugía Española
https://www.readbyqxmd.com/read/29232836/spasticity-management-in-disorders-of-consciousness
#17
REVIEW
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
https://www.readbyqxmd.com/read/29183766/ketogenic-diet-using-a-japanese-ketogenic-milk-for-patients-with-epilepsy-a-multi-institutional-study
#18
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
https://www.readbyqxmd.com/read/29135566/management-of-hypertonia-in-cerebral-palsy
#19
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
https://www.readbyqxmd.com/read/29090508/identification-classification-and-assessment-of-dyskinesia-in-children-with-cerebral-palsy-a-survey-of-clinicians
#20
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
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