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D Zbogar, J J Eng, W C Miller, A V Krassioukov, M C Verrier
STUDY DESIGN: Longitudinal observational study. OBJECTIVE: To quantify the amount of upper- and lower-extremity movement repetitions (that is, voluntary movements as part of a functional task or specific motion) occurring during inpatient spinal cord injury (SCI), physical (PT) and occupational therapy (OT), and examine changes over the inpatient rehabilitation stay. SETTING: Two stand-alone inpatient SCI rehabilitation centers. METHODS: Participants: A total of 103 patients were recruited through consecutive admissions to SCI rehabilitation...
October 18, 2016: Spinal Cord
Gianina Ravenscroft, Nataliya Di Donato, Gabriele Hahn, Mark R Davis, Paul D Craven, Gemma Poke, Katherine R Neas, Teresa M Neuhann, William B Dobyns, Nigel G Laing
Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few cases have also showed upper motor neuron pathology, including presenting with features resembling hereditary spastic paraplegia. The age-of-onset for the published families is usually at birth but also included cases with childhood- and adult-onset disease. In this report we described two isolated probands that presented in utero with features associated with reduced fetal movements...
September 19, 2016: Neuromuscular Disorders: NMD
Kanan Yatsuya, Satoshi Hirano, Eiichi Saitoh, Shigeo Tanabe, Hirotaka Tanaka, Masayuki Eguchi, Masaki Katoh, Yasuhiro Shimizu, Akito Uno, Hitoshi Kagaya
OBJECTIVE: To compare the energy efficiency of Wearable Power-Assist Locomotor (WPAL) with conventional knee-ankle-foot orthoses (MSH-KAFO) such as Hip and Ankle Linked Orthosis (HALO) or Primewalk. STUDY DESIGN: Cross over case-series. SETTING: Chubu Rosai Hospital, Aichi, Japan, which is affiliated with the Japan Organization of Occupational Health and Safety. METHODS: Six patients were trained with MSH-KAFO (either HALO or Primewalk) and WPAL...
October 17, 2016: Journal of Spinal Cord Medicine
Thomas Musacchio, Ann-Kathrin Zaum, Nurcan Üçeyler, Claudia Sommer, Nora Pfeifroth, Karlheinz Reiners, Erdmute Kunstmann, Jens Volkmann, Simone Rost, Stephan Klebe
Silver syndrome/SPG17 is a motor manifestation of mutations in the BSCL2 gene and usually presents as a complicated form of hereditary spastic paraplegia (HSP). We present clinical data, follow-up, and genetic results of seven patients with Silver syndrome/SPG17 including a family with a variable intrafamilial phenotype ranging from subclinical signs to a severe and rapidly progressing amyotrophic lateral sclerosis (ALS)-like phenotype. For molecular diagnosis of the family, we used the TruSight Exome sequencing panel consisting of 2761 genes...
October 13, 2016: Journal of Neurology
Koichi Morisaki, Takuya Matsumoto, Yutaka Matsubara, Kentaro Inoue, Yukihiko Aoyagi, Daisuke Matsuda, Shinichi Tanaka, Jun Okadome, Yoshihiko Maehara
We herein report a case of a rare complication of spinal cord ischemia (SCI) following endovascular aneurysm repair (EVAR). Computed tomography showed stenosis and calcification of bilateral iliac arteries and a saccular aneurysm of the terminal aorta. Paraplegia occurred soon after balloon angioplasty of iliac arteries and EVAR. Cerebrospinal fluid drainage was not performed because the patient was on dual antiplatelet drugs. The patient was treated with intravenous methylpredonisolone and naloxone; however, this did not improve his paraplegia...
2016: Annals of Vascular Diseases
Isabela Dos Passos Porto, Fernando Luiz Cardoso, Cinara Sacomori
OBJECTIVE: To analyse the association of team sports practice and physical and psychological factors with sexual adjustment in men with paraplegia. More specifically, we aimed to compare athletes and non-athletes regarding sexual adjustment, resilience, body and sexual self-esteem, and functional independence. DESIGN: Cross-sectional study with a paired design. PARTICIPANTS: The study included 60 men with paraplegia (30 athletes and 30 non-athletes)...
October 12, 2016: Journal of Rehabilitation Medicine
Laxmi Prasanna Bingi
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Kestutis Skucas, Vaida Pokvytyte
BACKGROUND: Of the research was to examine the effects of twelve weeks of combined dry land strength and resistance swimming training for increasing upper body strength, swimming performance and stroking parameters in swimmers with paraplegia and to determine correlation between these parameters. METHODS: The preliminary, the second (after 4 weeks), the third (after 8 weeks) and the last (after 12 weeks) testing were performed. The measurements consisted of the following assessments: the assessment of isometric strength in dry land (tension force), the assessment of swimming performance and stroke parameters during 50m backstroke, the assessment of strength during tethered swimming (tension force)...
October 11, 2016: Journal of Sports Medicine and Physical Fitness
Marina Diomedi, Ziv Gan-Or, Fabio Placidi, Patrick A Dion, Anna Szuto, Mario Bengala, Guy A Rouleau, Gian Luigi Gigli
Glucose transporter 1 (GLUT1) deficiency syndrome (GLUT1DS) was initially described in the early 90s as a sporadic clinical condition, characterized by seizures, motor and intellectual impairment with variable clinical presentation, and without a known genetic cause. Although causative mutations in SLC2A1 were later identified and much more is known about the disease, it still remains largely underdiagnosed. In the current study, a previously described Italian family was re-analyzed using whole exome sequencing and clinically re-evaluated...
October 7, 2016: European Journal of Medical Genetics
Pouya Nazari, Lee A Tan, Manish K Kasliwal, Vincent C Traynelis
No abstract text is available yet for this article.
October 4, 2016: Journal of Emergency Medicine
Nadeem Toodayan, Christopher J Boes
The eponymous legacy of Sir William Richard Gowers (1845-1915) was the subject of a comprehensive appraisal first written for this journal late last year. Since the completion of that work, a revealing February 1903 letter has come to light recording, amongst other things, Gowers' firsthand and somewhat private opinions concerning some of his own eponymous contributions to medicine. This addendum to the primary author's original article will review and contextualize this very interesting find as it relates to Gowers' eponymous legacy...
August 11, 2016: Journal of the History of the Neurosciences
Isabela Dos Porto, Fernando Luiz Cardoso, Cinara Sacomori
OBJECTIVE: To analyse the association of team sports practice and physical and psychological factors with sexual adjustment in men with paraplegia. More specifically, we aimed to compare athletes and non-athletes regarding sexual adjustment, resilience, body and sexual self-esteem, and functional independence. DESIGN: Cross-sectional study with a paired design. PARTICIPANTS: The study included 60 men with paraplegia (30 athletes and 30 non-athletes)...
October 5, 2016: Journal of Rehabilitation Medicine
Taisei Sako, Yasuaki Iida, Yuichirou Yokoyama, Shintaro Tsuge, Keiji Hasegawa, Akihito Wada, Tetsuo Mikami, Hiroshi Takahashi
Solitary epidural space metastasis of a malignant tumor is rare. We encountered a 79-year-old male patient with solitary metastatic epidural tumor who developed paraplegia and dysuria. The patient had undergone total gastrectomy for gastric cancer followed by chemotherapy 8 months priorly. The whole body was examined for suspected metastatic spinal tumor, but no metastases of the spine or important organs were observed, and a solitary mass was present in the thoracic spinal epidural space. The mass was excised for diagnosis and treatment and was histopathologically diagnosed as metastasis from gastric cancer...
2016: Case Reports in Orthopedics
Hisako Akiyama, Kazuki Nakajima, Yoshiyuki Itoh, Tomoko Sayano, Yoko Ohashi, Yoshiki Yamaguchi, Peter Greimel, Yoshio Hirabayashi
To date, sterylglucosides have been reported to be present in various fungi, plants, and animals. In bacteria, such as Helicobacter pylori, proton NMR spectral analysis of isolated cholesterylglucoside (GlcChol) demonstrated the presence of an α-glucosidic linkage. By contrast in animals, no detailed structural analysis of GlcChol has been reported, in part because animal-derived samples contain a high abundance of glucosylceramides/galactosylceramides, which exhibit highly similar chromatographic behavior to GlcChol...
October 3, 2016: Journal of Lipid Research
Andreas Tulzer, Rudolf Mair, Michaela Kreuzer, Gerald Tulzer
OBJECTIVES: Coarctation with hypoplastic aortic arch can be treated with resection and extended end-to-end anastomosis (REEEA) as well as end-to-side anastomosis (ESA). The aim of the study was to review our experience with these techniques in newborns and infants and to assess mid-term outcome with regards to morbidity, mortality, and reintervention rate in relation to operative access and technique. PATIENTS AND METHODS: Retrospective review of hospital charts and surgical reports from 183 consecutive newborns and infants with coarctation and hypoplastic aortic arch with or without ventricular septal defect between 1996 and 2013...
August 31, 2016: Journal of Thoracic and Cardiovascular Surgery
Ludivine Chamard, Sabrina Ferreira, Alexa Pijoff, Manon Silvestre, Eric Berger, Eloi Magnin
Objectives. To describe cognitive assessment including social cognition in SPG4 patients. Methods. We reported a series of nine patients with SPG4 mutation with an extensive neuropsychological examination including social cognition assessment. Results. None of our patients presented with mental retardation or dementia. All presented with mild cognitive impairment with a high frequency of attention deficit (100%), executive disorders (89%), and social cognition impairment (78%). An asymptomatic patient for motor skills presented with the same cognitive profile...
2016: Behavioural Neurology
H W Wu, L Sun, D M Li, H Jing, B Xu, C T Wang, L Zhang
Objective: To summarize the short- and mid-term results on endovascular repair of primary retrograde Stanford type A aortic dissection with an entry tear in distal aortic arch or descending aorta. Methods: Between December 2009 and December 2014, 21 male patients of primary retrograde Stanford type A aortic dissection with a mean age of (52±9) years received endovascular repair in Department of Cardiothoracic Surgery, Jinling Hospital. Among the 21 cases, 17 patients were presented as ascending aortic intramural hematoma, 4 patients as active blood flow in false lumen and partial thrombosis, 8 patients as ulcer on descending aorta combined intramural hematoma in descending aorta, and 13 patients as typical dissection changes...
October 1, 2016: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
Prashanth J Rao, Kevin Phan, Jonathon Ball
No abstract text is available yet for this article.
March 2016: J Spine Surg
Kishore R Kumar, G M Wali, Mahesh Kamate, Gautam Wali, André E Minoche, Clare Puttick, Mark Pinese, Velimir Gayevskiy, Marcel E Dinger, Tony Roscioli, Carolyn M Sue, Mark J Cowley
We performed whole genome sequencing (WGS) in nine families from India with early-onset hereditary spastic paraplegia (HSP). We obtained a genetic diagnosis in 4/9 (44 %) families within known HSP genes (DDHD2 and CYP2U1), as well as perixosomal biogenesis disorders (PEX16) and GM1 gangliosidosis (GLB1). In the remaining patients, no candidate structural variants, copy number variants or predicted splice variants affecting an extended candidate gene list were identified. Our findings demonstrate the efficacy of using WGS for diagnosing early-onset HSP, particularly in consanguineous families (4/6 diagnosed), highlighting that two of the diagnoses would not have been made using a targeted approach...
October 2016: Neurogenetics
Emna Toulgui, Sonia Jemni, Samia Frioui, Nadia Lazreg, Sahbi Mtaouaa, Fayçal Khachnaoui
OBJECTIVE: Tuberculous spondylitis, or Pott's disease, is a public health problem in Tunisia, where it occurs as an endemic disease. It is the most common and most severe articular bone tuberculosis. It is responsible for a major handicap because of its location and its destructive nature. This work aims to assess the contribution of rehabilitation for patients with Pott's disease. MATERIAL/PATIENTS AND METHODS: A retrospective study that included 29 patients with Pott's disease and hospitalized in PMR Service...
September 2016: Annals of Physical and Rehabilitation Medicine
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