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https://www.readbyqxmd.com/read/27912105/pre-operative-walking-activity-in-youth-with-cerebral-palsy
#1
Kristen Nicholson, Nancy Lennon, Robert Hulbert, Chris Church, Freeman Miller
BACKGROUND: No data are available regarding level of walking activity for youth with cerebral palsy (CP) before undergoing orthopeadic surgery. The goals of this study were to quantify pre-operative walking activity, and determine whether pre-operative values are different from previously defined levels of walking activity in youth with CP. PROCEDURES: This study retrospectively evaluated pre-operative walking activity in youth with spastic CP, GMFCS levels I-IV...
November 29, 2016: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27912104/structured-skill-practice-during-intensive-bimanual-training-leads-to-better-trunk-and-arm-control-than-unstructured-practice-in-children-with-unilateral-spastic-cerebral-palsy
#2
Ya-Ching Hung, Marina B Brandão, Andrew M Gordon
BACKGROUND: Recently, intensive practice showed good efficacy in improving upper extremity function for children with unilateral spastic cerebral palsy (USCP). However, little is known about the significance of skill progression frequently used during intensive practice. AIMS: We evaluate the importance of skill progression during intensive bimanual practice on movement coordination. METHODS AND PROCEDURES: Twenty children with USCP (average age: 8...
November 29, 2016: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27911893/the-mitochondrial-m-aaa-protease-prevents-demyelination-and-hair-greying
#3
Shuaiyu Wang, Julie Jacquemyn, Sara Murru, Paola Martinelli, Esther Barth, Thomas Langer, Carien M Niessen, Elena I Rugarli
The m-AAA protease preserves proteostasis of the inner mitochondrial membrane. It ensures a functional respiratory chain, by controlling the turnover of respiratory complex subunits and allowing mitochondrial translation, but other functions in mitochondria are conceivable. Mutations in genes encoding subunits of the m-AAA protease have been linked to various neurodegenerative diseases in humans, such as hereditary spastic paraplegia and spinocerebellar ataxia. While essential functions of the m-AAA protease for neuronal survival have been established, its role in adult glial cells remains enigmatic...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27909242/beneficial-effects-of-rapamycin-in-a-drosophila-model-for-hereditary-spastic-paraplegia
#4
Shiyu Xu, Michael Stern, James A McNew
The locomotor deficits in the hereditary spastic paraplegias (HSPs) reflect degeneration of upper motor neurons, but the mechanisms underlying this neurodegeneration are unknown. We established a Drosophila model for the HSP atlastin (atl), which encodes an ER fusion protein. Here we show that neuronal atl loss causes degeneration of specific thoracic muscles that is preceded by other pathologies including accumulation of aggregates containing poly-ubiquitin (poly-UB), increased generation of reactive oxygen species, and activation of the JNK/Foxo stress response pathway...
December 1, 2016: Journal of Cell Science
https://www.readbyqxmd.com/read/27908676/effect-of-selective-dorsal-rhizotomy-on-daily-care-and-comfort-in-non-walking-children-and-adolescents-with-severe-spasticity
#5
A I Buizer, P E M van Schie, E A M Bolster, W J van Ouwerkerk, R L Strijers, L A van de Pol, A Stadhouder, J G Becher, R J Vermeulen
BACKGROUND: In non-walking children with severe spasticity, daily care can be difficult and many patients suffer from pain. Selective dorsal rhizotomy (SDR) reduces spasticity in the legs, and therefore has the potential to improve daily care and comfort. AIM: To examine effects of SDR on daily care and comfort in non-walking children with severe spasticity due to different underlying neurological conditions. METHODS: Medical history, changes in daily care and comfort and satisfaction with outcome were assessed retrospectively in non-walking children who underwent SDR in our center, with a mean follow-up of 1y 7m (range 11m-4y 3m)...
October 22, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27907872/does-unilateral-single-event-multilevel-surgery-improve-gait-in-children-with-spastic-hemiplegia-a-retrospective-analysis-of-a-long-term-follow-up
#6
Christian Schranz, Annika Kruse, Tanja Kraus, Gerhardt Steinwender, Martin Svehlik
Single event multilevel surgery (SEMLS) has become a standard intervention for children with cerebral palsy (CP). SEMLS proved to improve the gait in bilateral spastic cerebral palsy and those improvements can be maintained in the long term. However there is no evidence on the long-term outcome of unilateral SEMLS in children with unilateral spastic cerebral palsy. The gait analyses and clinical data of 14 children (9 male/5 female, mean age 12.1) with unilateral CP (6 children Gross Motor Function Classification System Scale level I and 8 children level II) were retrospectively reviewed at four time-points: preoperatively, 1year, 3-5 years and approximately 10 years after unilateral SEMLS...
November 15, 2016: Gait & Posture
https://www.readbyqxmd.com/read/27906083/neonatal-diffusion-tensor-brain-imaging-predicts-later-motor-outcome-in-preterm-neonates-with-white-matter-abnormalities
#7
Do-Yeon Kim, Hyun-Kyung Park, Nam-Su Kim, Se-Jin Hwang, Hyun Ju Lee
BACKGROUND: White matter (WM) abnormalities associated with prematurity are one of the most important causes of neurological disability that involves spastic motor deficits in preterm newborns. This study aimed to evaluate regional microstructural changes in diffusion tensor imaging (DTI) associated with WM abnormalities. METHODS: We prospectively studied extremely low birth weight (ELBW; <1000 g) preterm infants who were admitted to the Neonatal Intensive Care Unit of Hanyang University Hospital between February 2011 and February 2014...
December 1, 2016: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/27904961/muscle-elastography-a-new-imaging-technique-for-multiple-sclerosis-spasticity-measurement
#8
G Illomei, G Spinicci, E Locci, M G Marrosu
Multiple sclerosis (MS) spasticity is currently evaluated on the basis of neurological examinations such as Ashworth Scale (AS) and 0-10 NRS. Severity of spasticity is difficult to quantify. We investigated the use of real time elastography (RTHE) ultrasounds for evaluating objectively the muscle fibers status in MS spasticity patients and their changes after a new antispasticity treatment. Two studies were performed. In study A, 110 MS patients underwent a neurological evaluation based on the AS and RTHE. The RTHE images were scored with the new 1-5 muscle fibers rigidity imaging scale, here called MEMSs (Muscle Elastography Multiple Sclerosis Score)...
November 30, 2016: Neurological Sciences
https://www.readbyqxmd.com/read/27904914/testicular-infarction-in-a-patient-with-spinal-cord-injury-with-epididymitis-a-case-report
#9
Po-Cheng Hsu, William J Huang, Shih-Fong Huang
: O-bjective: To describe a case of epididymitis-related testicular infarction in a patient with spinal cord injury. CASE REPORT: A 22-year-old man with a traumatic spinal cord injury (American Spinal Injury Association Impairment Scale A; neurological level, C4) developed epididymitis during hospitalization. He presented with spiking fever, autonomic dysreflexia, and increased spasticity. Physical examination revealed a rapidly progressive, firm swelling of the right hemiscrotum; however, the patient had no subjective complaint of pain owing to a loss of sensation...
November 30, 2016: Journal of Rehabilitation Medicine
https://www.readbyqxmd.com/read/27904031/variant-aldehyde-dehydrogenase-2-aldh2-2-in-east-asians-interactively-exacerbates-tobacco-smoking-risk-for-coronary-spasm%C3%A3-possible-role-of-reactive-aldehydes
#10
Yuji Mizuno, Seiji Hokimoto, Eisaku Harada, Kenji Kinoshita, Michihiro Yoshimura, Hirofumi Yasue
BACKGROUND: Coronary spastic angina (CSA) is common among East Asians and tobacco smoking (TS) is an established risk factor for CSA. Aldehyde dehydrogenase 2 (ALDH2) plays a key role in removing reactive toxic aldehydes and a deficient variant ALDH2 genotype (ALDH2*2) is prevalent among East Asians. We examined the interaction between TS andALDH2*2as a risk factor for CSA to better understand the disease pathogenesis.Methods and Results:The study subjects comprised 410 patients (258 men, 152 women; mean age, 66...
November 29, 2016: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/27903814/blink-associated-contralateral-eccentric-saccades-as-a-rare-sign-of-unilateral-brain-injury
#11
Ilaria Zivi, Eugenio Bertelli, Giacinta Bilotti, Ignazio Alessandro Clemente, Leopold Saltuari, Giuseppe Frazzitta
OBJECTIVE: To describe a rare sign of unilateral brain injury as a form of unwanted blink-associated contralateral eccentric saccades. METHODS: A 62-year-old patient who underwent an ischemic stroke affecting the entire right middle cerebral artery territory came to our attention 1 year after stroke, manifesting with transient contralateral conjugate gaze deviations associated with spontaneous blinking. We complemented the regular neurologic evaluation with brain MRI, study of evoked potentials, electroneurography of the facial nerve, and infrared video-oculoscopy...
November 30, 2016: Neurology
https://www.readbyqxmd.com/read/27903018/intrathecal-baclofen-therapy-for-the-treatment-of-spasticity-in-lithuania
#12
Robertas Kvascevicius, Ona Lapteva, Jurate Kesiene, Alfredas Vaitkus, Laima Mikulenaite, Ramunas Raugalas, Jurate Sipylaite, Saulius Rocka, Alvydas Juocevicius
Spasticity of cerebral or spinal origin severely impairs an individual's functional ability and quality of life. Intrathecal baclofen (ITB) therapy via an implantable pump is indicated for use in patients unresponsive to oral antispasmodics. ITB therapy improves the daily caring for and relief of painful spasms. In Lithuania, ITB therapy was introduced in clinical practice just recently. We share our experience of spasticity management with the ITB pump system in five patients at Vilnius University Hospital Santariskiu Klinikos...
November 30, 2016: Journal of Neurological Surgery. Part A, Central European Neurosurgery
https://www.readbyqxmd.com/read/27902906/generalized-tetanus-in-a-gyrfalcon-falco-rusticolus-with-pododermatitis
#13
Hugues Beaufrère, Delphine Laniesse, Paul Stickings, Robert Tierney, Thea Sesardic, Durda Slavic, Nicole Compo, Dale A Smith
A 2-yr-old male gyrfalcon ( Falco rusticolus ) was presented for severe and generalized muscle spasticity and pododermatitis. The falcon had been treated for pododermatitis over the previous 4 mo. Muscle rigidity and spasms involved the entire bird but were more severe on the right leg. The bird was also tachypneic and hyperthermic at 45 C. While the plantar pododermatitis lesions had healed, there was still a small abscess on the lateral aspect of the right foot. Clinical signs were consistent with tetanus...
December 2016: Avian Diseases
https://www.readbyqxmd.com/read/27902635/correlation-between-transverse-plan-kinematics-and-foot-progression-angle-in-children-with-spastic-diplegia
#14
Ana Presedo, Anne-Laure Simon, Cindy Mallet, Brice Ilharreborde, Keyvan Mazda, Georges-François Pennecot
In diplegic patients, the orientation of foot progression depends on multiple factors. We investigated the relationship between foot progression alignment, hip and pelvic rotations during gait, femoral anteversion, and tibial torsion. Kinematic and clinical parameters were evaluated for 114 children who walked independently and had not undergone previous surgery. Causes of intoeing presented combined in 72% of cases. Internal foot progression correlated with internal hip rotation and showed an inverse correlation with tibial torsion...
November 29, 2016: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/27901622/childhood-asthma-in-batumi-georgia-prevalence-correlates-potential-underdiagnosis
#15
Vakhtang Beridze, Lia Abuladze, Naira Partenadze, Tamar Bakhtadze, Joshua Lawson, Jan E Zejda
OBJECTIVE: A relative lack of data for Eastern Europe and unknown epidemiology of childhood asthma in Batumi (Georgia) justified a study aimed at determining the prevalence of physician-diagnosed asthma and related respiratory conditions, a comparison of the prevalence of these conditions between urban and rural children, and identification of their environmental correlates. METHODS: Subjects of the cross-sectional population-based study were 3238 urban and 2081 rural children aged 5-17 years whose respiratory status was assessed using the ISAAC questionnaire...
November 30, 2016: Journal of Asthma: Official Journal of the Association for the Care of Asthma
https://www.readbyqxmd.com/read/27900367/whole-genome-sequencing-of-two-probands-with-hereditary-spastic-paraplegia-reveals-novel-splice-donor-region-variant-and-known-pathogenic-variant-in-spg11
#16
Allen Chi-Shing Yu, Anne Yin-Yan Chan, Wing Chi Au, Yun Shen, Ting Fung Chan, Ho-Yin Edwin Chan
Hereditary spastic paraplegias (HSPs) are a group of heterogeneous neurodegenerative disorders, which are often presented with overlapping phenotypes such as progressive paraparesis and spasticity. To assist the diagnosis of HSP subtypes, next-generation sequencing is often used to provide supporting evidence. In this study, we report the case of two probands from the same family with HSP symptoms, including bilateral lower limb weakness, unsteady gait, cognitive decline, dysarthria, and slurring of speech since the age of 14...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27900365/genome-sequencing-in-a-case-of-niemann-pick-type-c
#17
Max Dougherty, John Lazar, Jason C Klein, Karina Diaz, Theodore Gobillot, Eli Grunblatt, Nicholas Hasle, Daniel Lawrence, Megan Maurano, Maria Nelson, Gregory Olson, Sanjay Srivatsan, Jay Shendure, C Dirk Keene, Thomas Bird, Marshall S Horwitz, Desiree A Marshall
Adult-onset Niemann-Pick disease type C (NPC) is an infrequent presentation of a rare neurovisceral lysosomal lipid storage disorder caused by autosomal recessive mutations in NPC1 (∼95%) or NPC2 (∼5%). Our patient was diagnosed at age 33 when he presented with a 10-yr history of difficulties in judgment, concentration, speech, and coordination. A history of transient neonatal jaundice and splenomegaly with bone marrow biopsy suggesting a lipid storage disorder pointed to NPC; biochemical ("variant" level cholesterol esterification) and ultrastructural studies in adulthood confirmed the diagnosis...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27898361/movement-symptoms-in-european-moyamoya-angiopathy-first-systematic-questionnaire-study
#18
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...
November 23, 2016: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/27898091/restoring-ureagenesis-in-hepatocytes-by-crispr-cas9-mediated-genomic-addition-to-arginase-deficient-induced-pluripotent-stem-cells
#19
Patrick C Lee, Brian Truong, Agustin Vega-Crespo, W Blake Gilmore, Kip Hermann, Stephanie Ak Angarita, Jonathan K Tang, Katherine M Chang, Austin E Wininger, Alex K Lam, Benjamen E Schoenberg, Stephen D Cederbaum, April D Pyle, James A Byrne, Gerald S Lipshutz
Urea cycle disorders are incurable enzymopathies that affect nitrogen metabolism and typically lead to hyperammonemia. Arginase deficiency results from a mutation in Arg1, the enzyme regulating the final step of ureagenesis and typically results in developmental disabilities, seizures, spastic diplegia, and sometimes death. Current medical treatments for urea cycle disorders are only marginally effective, and for proximal disorders, liver transplantation is effective but limited by graft availability. Advances in human induced pluripotent stem cell research has allowed for the genetic modification of stem cells for potential cellular replacement therapies...
November 29, 2016: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/27895574/robot-assisted-rehabilitation-of-ankle-plantar-flexors-spasticity-a-3-month-study-with-proprioceptive-neuromuscular-facilitation
#20
Zhihao Zhou, Yao Sun, Ninghua Wang, Fan Gao, Kunlin Wei, Qining Wang
In this paper, we aim to investigate the effect of proprioceptive neuromuscular facilitation (PNF)-based rehabilitation for ankle plantar flexors spasticity by using a Robotic Ankle-foot Rehabilitation System (RARS). A modified robot-assisted system was proposed, and seven poststroke patients with hemiplegic spastic ankles participated in a 3-month robotic PNF training. Their impaired sides were used as the experimental group, while their unimpaired sides as the control group. A robotic intervention for the experimental group started from a 2-min passive stretching to warming-up or relaxing the soleus and gastrocnemius muscles and also ended with the same one...
2016: Frontiers in Neurorobotics
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