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https://www.readbyqxmd.com/read/28521434/detection-of-spg20-gene-promoter-methylated-dna-as-a-novel-epigenetic-biomarker-in-plasma-for-colorectal-cancer-diagnosis-using-the-methylight-method
#1
Nayebali Rezvani, Reza Alibakhshi, Assad Vaisi-Raygani, Homayoon Bashiri, Massoud Saidijam
Aberrant promoter methylation of genes is a common epigenetic alteration in colorectal cancer (CRC). In the present study, spastic paraplegia 20 (SPG20) promoter-methylated DNA, as a potential diagnostic biomarker, was investigated in plasma and tumor tissue samples from patients with CRC. To the best of our knowledge, the quantification of SPG20 promoter-methylated DNA in plasma samples remains unreported. SPG20 promoter methylation was investigated in 32 paired tumor and healthy adjacent tissues, 37 plasma samples from patients with CRC, and in 37 plasma samples from a healthy control group, using the MethyLight method...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28520679/knee-recurvatum-in-children-with-spastic-diplegic-cerebral-palsy
#2
Jeremy Bauer, K Patrick Do, Jing Feng, Rosemary Pierce, Michael Aiona
BACKGROUND: The purpose of this study is to determine which factors drive patients with diplegic cerebral palsy to walk without knee recurvatum despite hyperextension of the knee on physical examination. METHODS: A retrospective review was conducted of all data collected in the Gait Analysis Laboratory between 1999 and 2014. Patients with spastic diplegic cerebral palsy and at least 5 degrees of knee extension on clinical examination were identified for the study...
May 17, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28515288/motor-recovery-beginning-23-years-after-ischemic-stroke
#3
Peter Sörös, Robert Teasell, Daniel F Hanley, J David Spence
It is widely believed that most stroke recovery occurs within 6 months, with little benefit of physiotherapy or other modalities beyond a year. We report a remarkable case of stroke recovery beginning 23 years after a severe stroke due to embolization from the innominate artery and subclavian artery, resulting from compression of the right subclavian artery by a cervical rib. The patient had a large right fronto-parietal infarction with severe left hemiparesis, and a totally non-functional spastic left hand...
May 17, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28512616/surgical-management-of-syringomyelia-associated-with-spinal-adhesive-arachnoiditis-a-late-complication-of-tuberculous-meningitis-a-case-report
#4
Jun Seok Lee, Geun Sung Song, Dong Wuk Son
Syringomyelia associated with tuberculous meningitis is an extremely rare condition. Only a few studies have reported clinical experience with syringomyelia as a late complication of tuberculous meningitis. Twenty-six years after a tuberculous meningitis episode, a 44-year-old man presented with progressively worsening spastic paresis of the lower limbs and impaired urinary function for 2 years. Radiological examination revealed syringomyelia extending from the level of C2 to T9 and arachnoiditis with atrophy of the spinal cord between C2 and T3...
April 2017: Korean Journal of Neurotrauma
https://www.readbyqxmd.com/read/28509631/improving-balance-mobility-and-dual-task-performance-in-an-adolescent-with-cerebral-palsy-a-case-report
#5
Sarah Fisher-Pipher, Lisa K Kenyon, Marci Westman
BACKGROUND AND PURPOSE: Improving functional mobility is often a desired outcome for adolescents with cerebral palsy (CP). Traditional neurorehabilitation approaches are frequently directed at impairments; however, improvements may not be carried over into functional mobility. The purpose of this case report was to describe the examination, intervention, and outcomes of a task-oriented physical therapy intervention program to improve dynamic balance, functional mobility, and dual-task performance in an adolescent with CP...
May 16, 2017: Physiotherapy Theory and Practice
https://www.readbyqxmd.com/read/28509356/assessments-of-pain-in-children-and-adolescents-with-cerebral-palsy-a-retrospective-population-based-registry-study
#6
Lena Westbom, Amanda Rimstedt, Eva Nordmark
AIM: To explore pain screening in CPUP, a follow-up surveillance programme for people with cerebral palsy (CP), specifically to describe reported pain prevalence, localizations, patterns of distribution; to compare with studies using psychometrically sound assessment instruments; and to assess agreement between pain documented in CPUP and medical records. METHOD: Registry study of a population with CP, born 1993 to 2008, living in Skåne, Sweden in 2013. Descriptive data, cross-tabulations, and chi-square tests to characterize and compare the study groups...
May 16, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28506156/flexor-digitorum-superficialis-tendon-sling-volar-plate-reconstruction-for-swan-neck-deformity-in-the-spastic-finger
#7
Y L Tan, F C Yong
The condition of proximal interphalangeal joint (PIPJ) locking in hyperextension may occur in the athetoid or spastic hand with moderate or severe swan-neck deformity at the 'opening' phase of prehension. The patient's complaints are of complete or incomplete locking that may require passive assistance to initiate PIPJ flexion. Surgical procedures to overcome this include rerouting the lateral band, stabilisation or reconstruction procedure for the volar instability of the PIPJ, etc. Volar stabilisation may be achieved by Flexor digitorum superficialis (FDS) tenodesis procedures or criss-cross tendon graft for volar plate reconstruction...
June 2017: Journal of Hand Surgery Asian-Pacific Volume
https://www.readbyqxmd.com/read/28505986/combined-transcranial-direct-current-stimulation-and-robotic-upper-limb-therapy-improves-upper-limb-function-in-an-adult-with-cerebral-palsy
#8
Kathleen M Friel, Peter Lee, Lindsey V Soles, Ana R P Smorenburg, Hsing-Ching Kuo, Dylan J Edwards
BACKGROUND: Robotic therapy can improve upper limb function in hemiparesis. Excitatory transcranial direct current stimulation (tDCS) can prime brain motor circuits before therapy. OBJECTIVE: We tested safety and efficacy of tDCS plus robotic therapy in an adult with unilateral spastic cerebral palsy (USCP). METHODS: In each of 36 sessions, anodal tDCS (2 mA, 20 min) was applied over the motor map of the affected hand. Immediately after tDCS, the participant completed robotic therapy, using the shoulder, elbow, and wrist (MIT Manus)...
May 10, 2017: NeuroRehabilitation
https://www.readbyqxmd.com/read/28503735/wdr45b-related-intellectual-disability-spastic-quadriplegia-epilepsy-and-cerebral-hypoplasia-a-consistent-neurodevelopmental-syndrome
#9
Jehan Suleiman, Diane Allingham-Hawkins, Mais Hashem, Hanan Shamseddin, Fowzan S Alkuraya, Ayman W El-Hattab
The advancement in genomic sequencing has greatly improved the diagnostic yield for neurodevelopmental disorders and led to the discovery of large number of novel genes associated with these disorders. WDR45B has been identified as a potential intellectual disability gene through genomic sequencing of two large cohorts of affected individuals. In this report we present six individuals from three unrelated families with homozygous pathogenic variants in WDR45B: c.799C>T (p.Q267*) in one family and c.673C>T (p...
May 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28503469/motor-neuron-disease-presenting-with-acute-respiratory-failure-a-case-study
#10
Hyeonjun Oh, Seong Woong Kang, Won Ah Choi, Jang Woo Lee, Miri Suh, Eun Young Kim
Motor neuron diseases (MNDs) refer to a heterogeneous group of progressive neurologic disorders caused by degeneration of motor neurons. The diseases affect either the upper motor neurons, lower motor neurons, or both, and are characterized by weakness, atrophy, fasciculation, spasticity, and respiratory failure. We report a case of a 61-year-old male patient with no past history of cardiovascular or pulmonary disease, who presented with only dyspnea, and no indication of any other symptom such as muscle weakness, atrophy, or bulbar dysfunction...
April 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28503467/medial-lemniscus-tract-lesion-after-high-voltage-electrical-injury-a-case-report
#11
Chul-Hyun Cho, Dong Gyu Lee
We present the case of a 33-year-old man who experienced a 10,000-V electrical shock when working with electrical wiring. He suffered third-degree burns on his scalp at the right occiput (entry wound) and on his left arm (exit would), and a second-degree burn on his left foot (exit wound). He presented with severe spasticity of both lower extremities, motor weakness with a Medical Research Council grade of 3, and sensory impairments below thoracic level 11 that included an inability to sense light touch and defects in proprioception...
April 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28503461/immediate-effect-of-a-single-session-of-whole-body-vibration-on-spasticity-in-children-with-cerebral-palsy
#12
Chunung Park, Eun Sook Park, Ja Young Choi, Yoona Cho, Dong-Wook Rha
OBJECTIVE: To investigate the immediate effect of a single session of whole body vibration (WBV) on lower extremity spasticity in children with cerebral palsy (CP). METHODS: Seventeen children with spastic CP were included. A single session of WBV was administered: 10-minute WBV, 1-minute rest, and 10-minute WBV. The effects of WBV were clinically assessed with the Modified Ashworth Scale (MAS) and Modified Tardieu Scale (MTS) before and immediately, 30 minutes, 1 hour, 2 hours, 3 hours, and 4 hours after WBV...
April 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28503323/severe-cervical-flexion-myelopathy-with-long-tract-signs-a-case-report-and-a-review-of-literature
#13
Takahito Fujimori, Akiko Tamura, Toshitada Miwa, Motoki Iwasaki, Takenori Oda
INTRODUCTION: Hirayama disease, a type of cervical flexion myelopathy, is a rare neurological disease characterized by muscular atrophy of the forearms and hands. Generally, the pathology is limited to the gray matter of the anterior horns in the lower cervical spinal cord. However, in rare cases the damage can spread to the white matter and present as long tract signs. CASE PRESENTATION: We report on a 30-year-old female whose onset presented as unilateral muscle atrophy of the right hand in her teens...
2017: Spinal Cord Series and Cases
https://www.readbyqxmd.com/read/28503163/different-effects-of-cold-stimulation-on-reflex-and-non-reflex-components-of-poststroke-spastic-hypertonia
#14
Sheng Li, Henry Shin, Ping Zhou, Xiaoyan Li
OBJECTIVE: To use an established biomechanical approach to quantify reflex and non-reflex responses from spastic-paretic elbow flexors in response to controlled cold and heat stimulation. METHODS: Thirteen spastic-hemiplegic stroke subjects were tested in the experiment. The spastic elbow joint was stretched into extension for 50° at two speeds (5°/s and 100°/s) in a customized apparatus. Thermal stimulation (HEAT at heat pain threshold, COLD at 0°C, or BASELINE at room temperature) was applied to the thenar eminence of the contralateral hand immediately prior to stretching for at least 30 s...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28502191/a-novel-mutation-in-als2-associated-with-severe-and-progressive-infantile-onset-of-spastic-paralysis
#15
Huma Tariq, Shahid Mukhtar, Sadaf Naz
Infantile onset ascending spastic paralysis (IAHSP) is a type of recessively inherited spastic paraplegia. We investigated the clinical and genetic cause of a recessively inherited disorder in two siblings manifesting severe spasticity in the lower limbs which hindered their gait. A novel homozygous nonsense mutation c.1918 C > T (p.Arg640*) was identified after whole-exome sequencing within ALS2 in the DNA of both patients. The obligate carriers were heterozygous for the mutation and other unaffected members were homozygous for the wild type allele...
May 13, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28500261/osmotic-demyelination-syndrome-in-type-1-diabetes-in-the-absence-of-dyselectrolytaemia-an-overlooked-complication
#16
Chandramohan Sharma, Banshi Lal Kumawat, Maulik Panchal, Mohit Shah
Central pontine myelinolysis (CPM) is a demyelinating disorder of central nervous system which involves central portion of the pons and sometimes extrapontine areas also. It is commonly reported in settings of hyponatraemia or its rapid correction, but in the last few years it has also been reported in patients with diabetes in the absence of electrolyte disturbances or correction of serum osmolality. Here we report a case of a 20-year-old female patient, with a known history of type 1 diabetes mellitus, who presented with acute onset spastic quadriparesis with dysarthria and mild ataxia which evolved over 2 weeks...
May 12, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28499657/electrically-assisted-movement-therapy-in-chronic-stroke-patients-with-severe-upper-limb-paresis-a-pilot-single-blind-randomized-crossover-study
#17
Stefano Carda, Andrea Biasiucci, Andrea Maesani, Silvio Ionta, Julien Moncharmont, Stephanie Clarke, Micah M Murray, José Del R Millán
OBJECTIVE: To evaluate the effects of electrically assisted movement therapy (EAMT) in which patients use functional electrical stimulation, modulated by a custom device controlled through the patient's unaffected hand, to produce or assist task-specific upper limb movements, which enables them to engage in intensive goal-oriented training. DESIGN: Randomized, crossover, assessor-blinded, 5-week trial with follow-up at 18 weeks. SETTING: Rehabilitation university hospital...
May 5, 2017: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/28497442/-myths-and-evidence-on-the-use-of-botulinum-toxin-spasticity-in-adults-and-in-children-with-cerebral-palsy
#18
J C Martinez-Castrillo, J L Pena-Segura, P Sanz-Cartagena, X Alonso-Curco, J M Arbelo-Gonzalez, G Arriola-Pereda, M D Coll-Bosch, J A Conejero-Casares, A Garcia-Ribes, S Jauma-Classen, J Pagonabarraga, J Vidal-Valls, P J Garcia-Ruiz
INTRODUCTION: Spasticity is a medical problem with a high incidence that significantly impact on the quality of life of patients and their families. AIM: To analyze and to answer different questions about the use of botulinum toxin type A (BTA) in our clinical practice. DEVELOPMENT: A group of experts in neurology develop a list of topics related with the use of BTA. Two big groups were considered: spasticity in adults and in children with cerebral palsy...
May 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28495799/studies-on-truncating-mutations-of-spast-associated-with-hereditary-spastic-paraplegia-indicate-greater-accumulation-and-toxicity-of-the-m1-isoform-of-spastin
#19
Joanna M Solowska, Anand N Rao, Peter W Baas
The SPAST gene, which produces two isoforms (M1 and M87) of the microtubule-severing protein called spastin, is the chief gene mutated in hereditary spastic paraplegia. Haploinsufficiency is a popular explanation for the disease, in part because most of the over 200 pathogenic mutations of the gene are truncating, and expected to produce only vanishingly small amounts of shortened proteins. Here we studied two such mutations, N184X and S245X, and our results suggest another possibility. We found that the truncated M1 proteins can accumulate to notably higher levels than their truncated M87 or wild-type counterparts...
May 11, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28494813/not-only-dominant-not-only-optic-atrophy-expanding-the-clinical-spectrum-associated-with-opa1-mutations
#20
Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello, Michela Di Nottia, Marcello Niceta, Costanza Lamperti, Anna Ardissone, Stefania Bianchi-Marzoli, Giancarlo Iarossi, Enrico Bertini, Isabella Moroni, Marco Tartaglia, Leonardo Salviati, Rosalba Carrozzo, Daniele Ghezzi
BACKGROUND: Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations. Few cases harboring compound heterozygous OPA1 mutations have been described manifesting complex neurodegenerative disorders in addition to optic atrophy. RESULTS: We report here three patients: one boy showing an early-onset mitochondrial disorder with hypotonia, ataxia and neuropathy that was severely progressive, leading to early death because of multiorgan failure; two unrelated sporadic girls manifesting a spastic ataxic syndrome associated with peripheral neuropathy and, only in one, optic atrophy...
May 12, 2017: Orphanet Journal of Rare Diseases
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