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https://www.readbyqxmd.com/read/28342829/effects-of-peer-mentoring-on-self-efficacy-and-hospital-readmission-following-inpatient-rehabilitation-of-individuals-with-spinal-cord-injury-a-randomized-controlled-trial
#1
Julie Gassaway, Michael L Jones, W Mark Sweatman, Minna Hong, Peter Anziano, Karen DeVault
OBJECTIVE: Investigate the effect of intensive peer mentoring on patient reported outcomes of self-efficacy and unplanned hospital readmissions for persons with spinal cord injury/disease (SCI/D) within the first 6 months after discharge from inpatient rehabilitation DESIGN: Randomized controlled trial; SETTING: Non-profit inpatient rehabilitation hospital specializing in care of persons with SCI/D and brain injury PARTICIPANTS: 158 patients admitted to the SCI rehabilitation program whose discharge location was a community setting...
March 22, 2017: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/28342521/endovascular-management-of-chronic-symptomatic-aortic-dissection-with-the-streamliner-multilayer-flow-modulator-twelve-month-outcomes-from-the-global-registry
#2
Sherif Sultan, Edel P Kavanagh, Florian Stefanov, Mohamed Sultan, Ala Elhelali, Victor Costache, Edward Diethrich, Niamh Hynes
OBJECTIVE: Reported are initial 12-month outcomes of patients with chronic symptomatic aortic dissection managed by the Streamliner Multilayer Flow Modulator (SMFM; Cardiatis, Isnes, Belgium). Primary end points were freedom from rupture- and aortic-related death, and reduction in false lumen index. Secondary end points were patency of great vessels and visceral branches, and freedom of stroke, paraplegia, and renal failure. METHODS: Out of 876 SMFM implanted globally, we have knowledge of 542...
April 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/28336819/fundamental-hemodynamic-mechanisms-mediating-the-response-to-myocardial-ischemia-in-conscious-paraplegic-mice-cardiac-output-versus-peripheral-resistance
#3
Heidi L Lujan, Stephen E DiCarlo
Autonomic dysfunction, a relative sedentary lifestyle, a reduced muscle mass and increased adiposity leads to metabolic abnormalities that accelerate the development of coronary artery disease (CAD) in individuals living with spinal cord injury (SCI). An untoward cardiac incident is related to the degree of CAD, suggesting that the occurrence of a significant cardiac event is significantly higher for individuals with SCI Thus, understanding the fundamental hemodynamic mechanisms mediating the response to myocardial ischemia has the potential to positively impact individuals and families living with SCI Accordingly, we systematically investigated if thoracic level 5 spinal cord transection (T5X; paraplegia) alters the arterial blood pressure response to coronary artery occlusion and if the different arterial blood pressure responses to coronary artery occlusion between intact and paraplegic mice are mediated by changes in cardiac output and or systemic peripheral resistance and whether differences in cardiac output are caused by changes in heart rate and or stroke volume...
March 2017: Physiological Reports
https://www.readbyqxmd.com/read/28332297/hereditary-spastic-paraplegia-caused-by-compound-heterozygous-mutations-outside-the-motor-domain-of-the-kif1a-gene
#4
M Krenn, G Zulehner, C Hotzy, J Rath, E Stogmann, M Wagner, T B Haack, T M Strom, A Zimprich, F Zimprich
BACKGROUND AND PURPOSE: Hereditary spastic paraplegia is a clinically and genetically heterogeneous group of rare, inherited disorders causing an upper motor neuron syndrome with (complex) or without (pure) additional neurological symptoms. Mutations in the KIF1A gene have already been associated with recessive and dominant forms of hereditary spastic paraplegia (SPG30) in a few cases. METHODS: All family members included in the study were examined neurologically...
March 22, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28330790/outcomes-of-diagnostic-exome-sequencing-in-patients-with-diagnosed-or-suspected-autism-spectrum-disorders
#5
Mari Rossi, Dima El-Khechen, Mary Helen Black, Kelly D Farwell Hagman, Sha Tang, Zöe Powis
BACKGROUND: Exome sequencing has recently been proved to be a successful diagnostic method for complex neurodevelopmental disorders. However, the diagnostic yield of exome sequencing for autism spectrum disorders has not been extensively evaluated in large cohorts to date. MATERIALS AND METHODS: We performed diagnostic exome sequencing in a cohort of 163 individuals with autism spectrum disorder (66.3%) or autistic features (33.7%). RESULTS: The diagnostic yield observed in patients in our cohort was 25...
February 8, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28329371/rare-spinal-cord-infarction-in-a-patient-with-acute-type-b-aortic-dissection
#6
Yuji Sekine, Takeshi Nishina, Yuichi Ueda
A 69-year-old man was admitted to our hospital with acute epigastric discomfort and subsequent paraplegia. Computed tomography revealed acute type B aortic dissection with a thrombosed false lumen. Magnetic resonance imaging did not reveal spinal cord infarction. Paraplegia resolved completely within 1 h. However, on the following day, the patient developed motor impairment in the left leg, sensory disorder of the bilateral legs and urinary retention. The symptoms gradually improved with conservative medical therapy...
February 20, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28329046/spinal-cord-protection-during-thoracoabdominal-aortic-replacement-spinal-cord-perfusion-maintenance
#7
Gaku Uchino, Keiji Yunoki, Naoya Sakoda, Shigeru Hattori, Takuya Kawabata, Munehiro Saiki, Yasufumi Fujita, Kunikazu Hisamochi, Hideo Yoshida
OBJECTIVES: Spinal cord protection during thoracoabdominal aortic surgery is challenging for surgeons. We performed thoracoabdominal replacement using a strategy for maintaining spinal cord perfusion pressure. Here, we report our experience with this procedure and the surgical outcomes. METHODS: Between January 2000 and December 2014, 130 patients [male: 91 (74.6%), female: 39 (25.4%); mean age: 66.6 ± 12.8 years] underwent thoracoabdominal replacement using cardiopulmonary bypass at Hiroshima Shimin Hospital, Japan...
February 6, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28327087/nt5c2-novel-splicing-variant-expands-the-phenotypic-spectrum-of-spastic-paraplegia-spg45-case-report-of-a-new-member-of-thin-corpus-callosum-spg-subgroup
#8
Mahmoud F Elsaid, Khalid Ibrahim, Nader Chalhoub, Ahmed Elsotouhy, Noora El Mudehki, Alice Abdel Aleem
BACKGROUND: Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative diseases. Thin Corpus Callosum (TCC) associated HSP is a distinguished subgroup of complex forms. Purines and pyrimidine, the basic DNA and RNA components, are regulating the cell metabolism, having roles in signal transduction, energy preservation and cellular repair. Genetic defects in nucleotide metabolism related genes have been only recently implicated in brain and neurodegenerative diseases' pathogenesis...
March 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28324774/methylation-changes-of-sirt1-klf4-dapk1-and-spg20-in-b-lymphocytes-derived-from-follicular-and-diffuse-large-b-cell-lymphoma
#9
Raffaele Frazzi, Eleonora Zanetti, Mariaelena Pistoni, Ione Tamagnini, Riccardo Valli, Luca Braglia, Francesco Merli
Diffuse large-B cell lymphomas (DLBCL) and follicular lymphomas (FL) are the most represented subtypes among mature B-cell neoplasms and originate from malignant B lymphocytes. Methylation represents one of the major epigenetic mechanisms of gene regulation. Silent information regulator 1 (SIRT1) is a class III lysine-deacetylase playing several functions and considered to be a context-dependent tumor promoter. We present the quantitative methylation, gene expression and tissue distribution of SIRT1 and some key mediators related to lymphoma pathogenesis in B lymphocytes purified from biopsies of follicular hyperplasias, FL and DLBCL...
March 9, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28322867/bile-acid-analysis-in-human-disorders-of-bile-acid-biosynthesis
#10
REVIEW
Frédéric M Vaz, Sacha Ferdinandusse
Bile acids facilitate the absorption of lipids in the gut, but are also needed to maintain cholesterol homeostasis, induce bile flow, excrete toxic substances and regulate energy metabolism by acting as signaling molecules. Bile acid biosynthesis is a complex process distributed across many cellular organelles and requires at least 17 enzymes in addition to different metabolite transport proteins to synthesize the two primary bile acids, cholic acid and chenodeoxycholic acid. Disorders of bile acid synthesis can present from the neonatal period to adulthood and have very diverse clinical symptoms ranging from cholestatic liver disease to neuropsychiatric symptoms and spastic paraplegias...
March 22, 2017: Molecular Aspects of Medicine
https://www.readbyqxmd.com/read/28322242/psychological-distress-and-user-experiences-with-health-care-provision-in-persons-living-with-spinal-cord-injury-for-more-than-20-years
#11
V M Jakimovska, E Kostovski, F Biering-Sørensen, I B Lidal
STUDY DESIGN: Descriptive cross-sectional and retrospective study. OBJECTIVES: To gain more insight into the long-term health status in persons with traumatic spinal cord injury (SCI), especially perceived psychological distress as well as self-reports of utilization of healthcare services. SETTING: Sunnaas Rehabilitation Hospital, Norway. METHODS: In total, 147 persons with SCI were examined for more than 20 years and interviewed (in 2004/2005) using a self-administrated questionnaire and General Health Questionnaire (GHQ-20)...
March 21, 2017: Spinal Cord
https://www.readbyqxmd.com/read/28320130/spg2-mimicking-multiple-sclerosis-in-a-family-identified-using-next-generation-sequencing
#12
Anna Rubegni, Carla Battisti, Alessandra Tessa, Alfonso Cerase, Stefano Doccini, Alessandro Malandrini, Filippo M Santorelli, Antonio Federico
Several single gene disorders can potentially be overlooked in the differential diagnostic evaluation of patients with multiple sclerosis (MS). Pelizaeus-Merzbacher disease and spastic paraplegia type 2 are allelic X-linked disorders associated with defective myelination of the central nervous system and mutations in PLP1. Neurological symptoms are occasionally observed in female carriers of these mutations. Two women - the proposita (Pt1) and her mother (Pt2) - reported walking difficulties since adolescence and showed progressive cognitive decline...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28319551/a-contemporary-medicolegal-analysis-of-implanted-devices-for-chronic-pain-management
#13
Christopher R Abrecht, Penny Greenberg, Ellen Song, Richard D Urman, James P Rathmell
BACKGROUND: Analysis of closed malpractice claims allows the study of rare but serious complications and likely results in improved patient safety by raising awareness of such complications. Clinical studies and closed claims analyses have previously reported on the common complications associated with intrathecal drug delivery systems (IDDS) and spinal cord stimulators (SCS). This study provides a contemporary analysis of claims from within the past 10 years. METHODS: We performed a closed claims analysis for a period January 1, 2009 to December 31, 2013 for cases with pain medicine as the primary service...
April 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28316845/spinal-cord-infarction-in-the-course-of-a-septic-shock-about-one-case-and-review-of-the-literature
#14
P Henin, A Molderez, V Huberlant, H Trine
We report the case of a patient admitted to our intensive care unit in the course of a septic shock, secondary to cholangitis. After rapid hemodynamic stabilization, antibiotherapy, and endoscopic extraction of bile ducts stones, she appeared to have developed flaccid paraplegia. The suspected diagnosis of medullar ischemia was confirmed by typical MRI findings. This case stresses the potential pathogenic role of hypotension in medullar ischemia and the place of magnetic resonance imaging (MRI) as a reliable diagnostic tool...
2017: Case Reports in Critical Care
https://www.readbyqxmd.com/read/28314966/-neuro-urological-diagnosis-and-therapy-of-lower-urinary-tract-dysfunction-in-patients-with-spinal-cord-injury-s2k-guideline-of-the-german-speaking-medical-society-of-paraplegia-dmgp-awmf-register-no-179-001
#15
R Böthig, B Domurath, A Kaufmann, J Bremer, W Vance, I Kurze
BACKGROUND: Most patients with spinal cord injury (SCI) suffer from neurogenic lower urinary tract dysfunction (NLUTD), bowel dysfunction and sexual dysfunction. If these remain untreated, severe medical complications and serious limitations (restrictions) in quality of life are imminent. OBJECTIVES: In the long term, there are considerable differences in the treatment results of highly specialized centers versus other treatment facilities. MATERIALS AND METHODS: Against this background, a consensus-based guideline, according to the AWMF (Association of the Scientific Medical Societies in Germany) criteria (S2k), was developed by the neuro-urology working group of the DMPG (German-Speaking Medical Society of Paraplegia)...
March 17, 2017: Der Urologe. Ausg. A
https://www.readbyqxmd.com/read/28304239/immunoglobulin-g4-related-epidural-inflammatory-pseudotumor-presenting-with-pulmonary-complications-and-spinal-cord-compression-case-report
#16
Kavelin Rumalla, Kyle A Smith, Paul M Arnold
Immunoglobulin G4-related disease (IgG4-RD) is a recently defined condition characterized by inflammatory tumefactive lesions in various organ systems. IgG4-RD is a clinical and radiological diagnosis of exclusion and requires the presence of specific histopathological criteria for diagnosis. A 50-year-old man presented to an outside hospital with a 3-month history of progressively worsening back pain and symptoms of pleurisy, nasal crusting, and hematochezia. Radiological workup revealed an epidural-paraspinal mass with displacement of the spinal cord, destruction of the T5-6 vertebrae, and extension into the right lung...
March 17, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28295203/pla2g6-mutations-associated-with-a-continuous-clinical-spectrum-from-neuroaxonal-dystrophy-to-hereditary-spastic-paraplegia
#17
Burcak Ozes, Nazan Karagoz, Rebecca Schüle, Adriana Rebelo, María-Jesús Sobrido, Florian Harmuth, Matthis Synofzik, Samuel Ignacio Pascual Pascual, Melek Colak, Beyza Ciftci-Kavaklioglu, Batuhan Kara, Andrés Ordóñez-Ugalde, Beatriz Quintáns, Michael A Gonzalez, Aysun Soysal, Stephan Zuchner, Esra Battaloglu
PLA2G6-associated neurodegeneration (PLAN) and hereditary spastic paraplegia (HSP) are two groups of heterogeneous neurodegenerative diseases. In this study, we report PLA2G6 gene mutations in three families from Turkey, Morocco, and Romania. Two affected Turkish siblings presenting HSP adds the disease to PLAN phenotypes. They were homozygous for the PLA2G6 missense c.2239C>T, p.Arg747Trp variant and the ages of onset were 9 and 21. Parkinsonism, dystonia or cognitive decline were not the clinical elements in these patients contrary to the cases that has been previously reported with the same variant, however, iron accumulation was evident in their cranial MRI...
March 13, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28290470/descriptive-study-of-earthquake-related-spinal-cord-injury-in-nepal
#18
C C Groves, M K Poudel, M Baniya, C Rana, D R House
STUDY DESIGN: Descriptive study. OBJECTIVES: To describe the epidemiological features of spinal cord injury (SCI) following the 2015 earthquakes in Nepal. SETTING: Spinal Injury Rehabilitation Centre, Kavre, Nepal. METHODS: Data were collected from the medical records of all earthquake-related patients seen from 25 April 2015 through to 16 June 2016. Data collected included patient demographics, mechanism of injury, initial medical treatment, neurological assessment, complications, neurological/functional outcomes and length of stay...
March 14, 2017: Spinal Cord
https://www.readbyqxmd.com/read/28290467/long-term-survival-after-traumatic-spinal-cord-injury-a-70-year-british-study
#19
G Savic, M J DeVivo, H L Frankel, M A Jamous, B M Soni, S Charlifue
STUDY DESIGN: Retrospective and prospective observational. OBJECTIVES: Analyse long-term survival after traumatic spinal cord injury (SCI) in Great Britain over the 70-year study period, identify mortality risk factors and estimate current life expectancy. SETTING: Two spinal centres in Great Britain. METHODS: The sample consisted of patients with traumatic SCI injured 1943-2010 who survived the first year post-injury, had residual neurological deficit on discharge and were British residents...
March 14, 2017: Spinal Cord
https://www.readbyqxmd.com/read/28290094/evaluating-the-calling-performance-of-a-rare-disease-ngs-panel-for-single-nucleotide-and-copy-number-variants
#20
P Cacheiro, A Ordóñez-Ugalde, B Quintáns, S Piñeiro-Hermida, J Amigo, M García-Murias, S I Pascual-Pascual, F Grandas, J Arpa, A Carracedo, M J Sobrido
INTRODUCTION: Variant detection protocols for clinical next-generation sequencing (NGS) need application-specific optimization. Our aim was to analyze the performance of single nucleotide variant (SNV) and copy number (CNV) detection programs on an NGS panel for a rare disease. METHODS: Thirty genes were sequenced in 83 patients with hereditary spastic paraplegia. The variant calls obtained with LifeScope, GATK UnifiedGenotyper and GATK HaplotypeCaller were compared with Sanger sequencing...
March 13, 2017: Molecular Diagnosis & Therapy
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