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https://www.readbyqxmd.com/read/28535259/altered-organisation-of-the-intermediate-filament-cytoskeleton-and-relocalisation-of-proteostasis-modulators-in-cells-lacking-the-ataxia-protein-sacsin
#1
Emma J Duncan, Roxanne Larivière, Teisha Y Bradshaw, Fabiana Longo, Nicolas Sgarioto, Matthew J Hayes, Lisa E L Romano, Suran Nethisinghe, Paola Giunti, Michaela B Bruntraeger, Heather D Durham, Bernard Brais, Francesca Maltecca, Benoit J Gentil, J Paul Chapple
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in the gene SACS, encoding the 520 kDa protein sacsin. Although sacsin's physiological role is largely unknown, its sequence domains suggest a molecular chaperone or protein quality control function. Consequences of its loss include neurofilament network abnormalities, specifically accumulation and bundling of perikaryal and dendritic neurofilaments.To investigate if loss of sacsin affects intermediate filaments more generally, the distribution of vimentin was analysed in ARSACS patient fibroblasts and in cells where sacsin expression was reduced...
May 23, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28534521/comprehensive-analysis-of-adverse-events-associated-with-per-oral-endoscopic-myotomy-in-1826-patients-an-international-multicenter-study
#2
Yamile Haito-Chavez, Haruhiro Inoue, Kristin W Beard, Peter V Draganov, Michael Ujiki, Burkhard H A Rahden, Pankaj N Desai, Mathieu Pioche, Bu Hayee, Amyn Haji, Payal Saxena, Kevin Reavis, Manabu Onimaru, Valerio Balassone, Jun Nakamura, Yoshitaka Hata, Dennis Yang, Davinderbir Pannu, Ali Abbas, Yaseen B Perbtani, Lava Y Patel, Jorg Filser, Sabine Roman, Jerome Rivory, Francois Mion, Thierry Ponchon, Silvana Perretta, Vivien Wong, Roberta Maselli, Saowanee Ngamruengphong, Yen-I Chen, Majidah Bukhari, Gulara Hajiyeva, Amr Ismail, Renata Pieratti, Vivek Kumbhari, Gerson Galdos-Cardenas, Alessandro Repici, Mouen A Khashab
OBJECTIVES: The safety of peroral endoscopic myotomy (POEM) is still debated since comprehensive analysis of adverse events (AEs) associated with the procedure in large multicenter cohort studies has not been performed. To study (1) the prevalence of AEs and (2) factors associated with occurrence of AEs in patients undergoing POEM. METHODS: Patients who underwent POEM at 12 tertiary-care centers between 2009 and 2015 were included in this case-control study. Cases were defined by the occurrence of any AE related to the POEM procedure...
May 23, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28534044/hsp-and-deafness-neurocristopathy-caused-by-a-novel-mosaic-sox10-mutation
#3
Sandra Donkervoort, Diana Bharucha-Goebel, Pomi Yun, Ying Hu, Payam Mohassel, Ahmet Hoke, Wadih M Zein, Daniel Ezzo, Andrea M Atherton, Ann C Modrcin, Majed Dasouki, A Reghan Foley, Carsten G Bönnemann
OBJECTIVE: To identify the underlying genetic cause in 2 sisters affected with progressive lower extremity spasticity, neuropathy, and early-onset deafness. METHODS: Whole-exome sequencing was performed, and segregation testing of variants was investigated using targeted Sanger sequencing. An inherited paternal mosaic mutation was further evaluated through quantitative analysis of the ratio of mutant vs wild-type allele in genomic DNA from various tissues, including blood, dermal fibroblasts, and saliva...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28533629/the-effects-of-a-multisensory-dynamic-balance-training-on-the-thickness-of-lower-limb-muscles-in-ultrasonography-in-children-with-spastic-diplegic-cerebral-palsy
#4
Seung-Min Nam, Won-Hyo Kim, Chang-Kyo Yun
[Purpose] This study aimed to investigate the effects of multisensory dynamic balance training on muscles thickness such as rectus femoris, anterior tibialis, medial gastrocnemius, lateral gastrocnemius in children with spastic diplegic cerebral palsy by using ultrasonography. [Subjects and Methods] Fifteen children diagnosed with spastic diplegic cerebral palsy were divided randomly into the balance training group and control group. The experimental group only received a multisensory dynamic balance training, while the control group performed general physiotherapy focused balance and muscle strengthening exercise based Neurodevelopmental treatment...
April 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28533627/reduced-foot-pain-after-spasticity-control-with-alcohol-block-in-a-patient-with-chronic-hemiparetic-stroke-a-case-report
#5
Min Cheol Chang
[Purpose] This study report a case of a patient with hemiparetic stroke who showed significantly reduced foot pain when ankle spasticity was reduced using nerve and motor point blocks with 20% ethyl alcohol. [Subject and Methods] A 58-year-old woman with left hemiparesis following intracranial hemorrhage five years previously presented with pain in the left fifth metatarsal head for two years (numeric rating scale[NRS]: 8). Erythema and edema were observed on the lateral aspect of the head of the fifth metatarsal bone...
April 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28533005/risk-factors-for-daytime-or-combined-incontinence-in-children-with-cerebral-palsy
#6
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/28532646/the-novel-psen1-m84v-mutation-associated-to-frontal-dysexecutive-syndrome-spastic-paraparesis-and-cerebellar-atrophy-in-a-dominant-alzheimer-s-disease-family
#7
Maura Gallo, Francesca Frangipane, Chiara Cupidi, Matteo De Bartolo, Sabina Turone, Camilla Ferrari, Benedetta Nacmias, Giuliana Grimaldi, Valentina Laganà, Rosanna Colao, Livia Bernardi, Maria Anfossi, Maria Elena Conidi, Franca Vasso, Sabrina Anna Maria Curcio, Maria Mirabelli, Nicoletta Smirne, Giusi Torchia, Maria Gabriella Muraca, Gianfranco Puccio, Raffaele Di Lorenzo, Maristella Piccininni, Andrea Tedde, Raffaele Giovanni Maletta, Sandro Sorbi, Amalia Cecilia Bruni
We identified the novel PSEN1 pathogenic mutation M84V in 3 patients belonging to a large kindred affected by autosomal dominant Alzheimer's disease (AD). The clinical phenotype was characterized by early onset dementia in 14 affected subjects over 3 generations. Detailed clinical, imaging and genetic assessment was performed. We highlighted the presence of unusual symptoms such as frontal executive syndrome, psychosis and spastic paraparesis in these patients. Spastic paraparesis has been reported in other PSEN1 mutations in adjacent codons, suggesting that the position of the genetic defect may affect the clinical expression, although this phenotype can occur in mutations throughout the whole PSEN1 gene...
April 27, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28530017/mechanical-stress-by-spasticity-accelerates-fracture-healing-after-spinal-cord-injury
#8
Naoyoshi Sakitani, Hiroyuki Iwasawa, Masato Nomura, Yasushi Miura, Hiroshi Kuroki, Junya Ozawa, Hideki Moriyama
Accelerated fracture healing in patients with spinal cord injuries (SCI) is often encountered in clinical practice. However, there is no distinct evidence in the accelerated fracture healing, and the mechanisms of accelerated fracture healing in SCI are poorly understood. We aimed to determine whether SCI accelerated fracture healing in morphology and strength, to characterize the healing process with SCI, and to clarify the factors responsible for accelerated fracture healing. In total, 39 male Wistar rats were randomly divided into healthy control without intervention, SCI only, fracture with SCI, botulinum toxin (BTX) A-treated fracture with SCI, and propranolol-treated fracture with SCI groups...
May 22, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28528818/patellar-tendon-vibration-reduces-the-increased-facilitation-from-quadriceps-to-soleus-in-post-stroke-hemiparetic-individuals
#9
Eric Maupas, Joseph-Omer Dyer, Sibele de Andrade Melo, Robert Forget
BACKGROUND: Stimulation of the femoral nerve in healthy people can facilitate soleus H-reflex and electromyography (EMG) activity. In stroke patients, such facilitation of transmission in spinal pathways linking the quadriceps and soleus muscles is enhanced and related to co-activation of knee and ankle extensors while sitting and walking. Soleus H-reflex facilitation can be depressed by vibration of the quadriceps in healthy people, but the effects of such vibration have never been studied on the abnormal soleus facilitation observed in people after stroke...
May 18, 2017: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/28527629/p62-sequestosome-1-knockout-delays-neurodegeneration-induced-by-drp1-loss
#10
Tatsuya Yamada, Yoshihiro Adachi, Toru Yanagawa, Miho Iijima, Hiromi Sesaki
Purkinje neurons, one of the largest neurons in the brain, are critical for controlling body movements, and the dysfunction and degeneration of these cells cause ataxia. Purkinje neurons require a very efficient energy supply from mitochondria because of their large size and extensive dendritic arbors. We have previously shown that mitochondrial division mediated by dynamin-related protein 1 (Drp1) is critical for the development and survival of Purkinje neurons. Drp1 deficiency has been associated with one of the major types of ataxia: autosomal recessive spastic ataxia of Charlevoix Saguenay...
May 17, 2017: Neurochemistry International
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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