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https://www.readbyqxmd.com/read/29678961/-capn1-mutations-broadening-the-hereditary-spastic-paraplegia-spinocerebellar-ataxia-phenotype
#1
Jeffrey Lambe, Bernadette Monaghan, Tudor Munteanu, Janice Redmond
Increasing availability of next-generation sequencing technologies has revealed several limitations of diagnosis-driven traditional clinicogenetic disease classifications, particularly among patients with an atypical or mixed phenotype. Hereditary spastic paraplegia (HSP) and spinocerebellar ataxia (SCA) are two such disease entities with an often overlapping presentation, in which next generation exome sequencing has played a key role in identification of genes causing disease along a continuum of ataxia and spasticity...
April 20, 2018: Practical Neurology
https://www.readbyqxmd.com/read/29674381/sudden-onset-paraplegia
#2
Adomas Bunevicius, Arimantas Tamasauskas, Kazys Ambrozaitis
No abstract text is available yet for this article.
May 2018: Emergency Medicine Journal: EMJ
https://www.readbyqxmd.com/read/29673586/methylation-induced-silencing-of-spg20-facilitates-gastric-cancer-cell-proliferation-by-activating-the-egfr-mapk-pathway
#3
Zhangjian Zhou, Wei Wang, Xin Xie, Yongchun Song, Chengxue Dang, Hao Zhang
Spastic paraplegia 20 methylation was characterized in gastric cancer in our previous study. However, its mechanism remains unknown. Cell proliferation, colony formation, flow cytometry, wound healing, in vitro Transwell assays and in vivo xenografts were performed. A nomogram model was established to make a more accurate prognostic prediction for gastric cancer patients. Knockout of Spastic paraplegia 20 promoted gastric cancer cell proliferation, G2/M arrest in vitro and tumor growth in vivo. The EGFR/MAPK pathway was activated as a consequence of Spastic paraplegia 20 deletion...
April 17, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29673298/initial-clinical-experience-using-the-low-profile-altura-endograft-system-with-double-d-shaped-proximal-stents-for-endovascular-aneurysm-repair
#4
Dainis Krievins, Albrecht Krämer, Janis Savlovskis, Georgij Oszkinis, E Sebastian Debus, Alexander Oberhuber, Christopher K Zarins
PURPOSE: To report the initial clinical results of endovascular aneurysm repair (EVAR) using the low-profile (14-F) Altura Endograft System, which features a double "D-shaped" stent design with suprarenal fixation and modular iliac components that are deployed from distal to proximal. METHODS: From 2011 to 2015, 90 patients (mean age 72.8±8.3 years; 79 men) with abdominal aortic aneurysm (AAA; mean diameter 53.8±5.7 mm) were treated at 10 clinical sites in 2 prospective, controlled clinical studies using the Altura endograft...
April 1, 2018: Journal of Endovascular Therapy
https://www.readbyqxmd.com/read/29672685/surgical-and-early-outcomes-for-type-a-aortic-dissection-with-preoperative-renal-dysfunction-stratified-by-estimated-glomerular-filtration-rate
#5
Tianyu Zhou, Jun Li, Yongxin Sun, Jiawei Gu, Kai Zhu, Yulin Wang, Hao Lai, Chunsheng Wang
OBJECTIVES: The aim of this study was to analyse the effect of preoperative renal dysfunction on surgical and early outcomes for patients with Type A aortic dissection (AAD). METHODS: From January 2016 to December 2016, 140 patients with AAD who underwent surgical treatment at our institution were retrospectively analysed. According to the estimated glomerular filtration rate (eGFR), preoperative renal dysfunction was divided into 4 groups: normal (eGFR ≥90 ml/min/1...
April 17, 2018: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/29670510/differential-expression-of-several-mirnas-and-the-host-genes-aatk-and-dnm2-in-leukocytes-of-sporadic-als-patients
#6
Katarina Vrabec, Emanuela Boštjančič, Blaž Koritnik, Lea Leonardis, Leja Dolenc Grošelj, Janez Zidar, Boris Rogelj, Damjan Glavač, Metka Ravnik-Glavač
Genetic studies have managed to explain many cases of familial amyotrophic lateral sclerosis (ALS) through mutations in several genes. However, the cause of a majority of sporadic cases remains unknown. Recently, epigenetics, especially miRNA studies, show some promising aspects. We aimed to evaluate the differential expression of 10 miRNAs, including miR-9, miR-338, miR-638, miR-663a, miR-124a, miR-143, miR-451a, miR-132, miR-206, and let-7b, for which some connection to ALS was shown previously in ALS culture cells, animal models or patients, and in three miRNA host genes, including C1orf61 (miR-9), AATK (miR-338), and DNM2 (miR-638), in leukocyte samples of 84 patients with sporadic ALS...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29668610/a-term-vaginal-delivery-by-a-patient-with-traumatic-tetraplegia-a-case-report
#7
Changfang Yao, Yongjuan Xu, Li Dai, Yan Lv, Xiaoli Xu, Wenfeng Ye
RATIONALE: About 60,0000 people are involved in traffic accident each year in China and spinal cord injury (SCI) often occurs. Pregnant women with paraplegia is rare, and they face higher risk during pregnancy and childbirth. PATIENT CONCERNS: We report a case of a 35-year-old patient with SCI, who had vaginal forceps delivery at 38 weeks and 5 days of gestation. DIAGNOSES: The patient was diagnosed with term pregnancy with traumatic tetraplegia...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29663880/the-plasma-membrane-calcium-atpases-in-calcium-signaling-network
#8
Xiaomo Wu, Liqiang Weng, Jinyan Zhang, Xiaolong Liu, Jianqing Huang
The plasma membrane Ca2+ ATPases (PMCAs) are responsible for the clearance of Ca2+ out of cells after intracellular Ca2+ transients. Cooperating with Na+/Ca2+ exchangers (NCXs) and Ca2+ buffering proteins, PMCAs play an essential role in maintaining the long-term cellular Ca2+ homeostasis. The plasma membrane Ca2+ ATPase was first discovered in red blood cell membrane about 50 years ago, and then other PMCA isoforms and alternatively spliced variants had been identified from different tissues and different developmental stages, revealing a surprising complexity of the PMCA family...
April 16, 2018: Current Protein & Peptide Science
https://www.readbyqxmd.com/read/29663743/intraspinal-intradural-nodular-fasciitis-mimicking-glioblastoma-metastasis-a-case-report
#9
Carl Moritz Zipser, Lars Füllbier, Rudi Beschorner, Hans Bösmüller, Ulf Ziemann, Marcos Soares Tatagiba, Ghazaleh Tabatabai, Benjamin Bender, Felix Behling
We report the case of a 78-year-old male patient suffering from right temporal glioblastoma with radiographic meningeal tumor spread. During the further course of the disease he developed a rapidly progressive paraplegia. An magnetic resonance imaging scan showed a contrast enhancing an intraspinal intradural lesion with compression of the myelon on segment Th 8/9. With a high suspicion of a spinal metastasis of the known glioblastoma, emergency spinal decompression and resection of the intradural mass was performed...
2018: Folia Neuropathologica
https://www.readbyqxmd.com/read/29660947/effects-of-walkbot-gait-training-on-kinematics-kinetics-and-clinical-gait-function-in-paraplegia-and-quadriplegia
#10
Jongseok Hwang, Yongil Shin, Ji-Ho Park, Young Joo Cha, Joshua Sung H You
BACKGROUND: The robotic-assisted gait training (RAGT) system has gained recognition as an innovative, effective paradigm to improve functional ambulation and activities of daily living in spinal cord injury and stroke. However, the effects of the Walkbot robotic-assisted gait training system with a specialized hip-knee-ankle actuator have never been examined in the paraplegia and quadriplegia population. OBJECTIVE: The aim of this study was to determine the long-term effects of Walkbot training on clinical for hips and knee stiffness in individuals with paraplegia or quadriplegia...
April 7, 2018: NeuroRehabilitation
https://www.readbyqxmd.com/read/29659301/cross-cultural-validation-of-a-brazilian-version-of-the-adapted-manual-wheelchair-circuit-amwc-brazil
#11
Frederico Ribeiro Neto, Rodrigo Rodrigues Gomes Costa, Ana Cláudia Garcia Lopes, Rodrigo Luiz Carregaro
PURPOSE: To translate, culturally adapt and validate the Adapted Manual Wheelchair Circuit (AMWC) into Brazilian-Portuguese. DESIGN: Cross-sectional study. METHODS: Sixty-six men (median age of 30.5 years [percentiles 25 and 75: 24.0; 38.3 years]) with traumatic spinal cord injury were consecutively enrolled and divided into two groups: tetraplegia (TP) and paraplegia (PP). The participants performed the AMWC-Brazil and were evaluated by the Spinal Cord Injury Measure version III (SCIM-III)...
April 16, 2018: Physiotherapy Theory and Practice
https://www.readbyqxmd.com/read/29652238/challenge-of-handling-a-charcot-spinal-arthropathy-with-a-novel-hybrid-fibular-autograft-and-expandable-cage
#12
Nissim Ohana, Daniel Benharroch, Dimitri Sheinis
A 26-year-old man, who was paraplegic for 6 years due to a motor vehicle accident, presented to the authors' clinic following his incapacity to withstand a sitting posture, the frequent sensation of "clicks" in his back, and a complaint of back pain while in his wheelchair. On imaging, his dorsal spine showed a complete arthrodesis of the primarily fused vertebrae. However, distal to this segment, a Charcot spinal arthropathy with subluxation of T12-L1 was evident. Repair of this complex, uncommon, late complication of his paraplegia by the frequently used fusion techniques was shown to be inappropriate...
April 13, 2018: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/29644101/spinal-cord-injury-epidemiological-profile-in-the-sarah-network-of-rehabilitation-hospitals-a-brazilian-population-sample
#13
D C Barbetta, T R Smanioto, M F Poletto, Rfa Ferreira, Acg Lopes, F M Casaro, Acs Camargo, T O Ogashawara
Study design: Retrospective cross-sectional study. Objective: To describe the epidemiological profile of individuals with spinal cord injury (SCI), who visited the Sarah Network in 2014. Setting: Brazil, Brasília-Federal District. Methods: A review of the electronic medical records of persons with SCI, aged over 15 years, was carried out. Results: The medical records of 2076 persons were evaluated: 83% were male, the mean age was 31 years, 40% did not complete elementary school, 67...
2018: Spinal Cord Series and Cases
https://www.readbyqxmd.com/read/29627177/the-evolutionary-saga-of-circumcision-from-a-religious-perspective
#14
REVIEW
Venkatachalam Raveenthiran
Circumcision is the oldest surgical operation known to mankind. It probably originated as a less radical form of genital mutilation inflicted on prisoners of war. Over time it was adopted by the Egyptian priesthood and nobility, perhaps inspired by the mythology of Osiris. In turn, circumcision became part of the Jewish and Muslim religious cultures. In contrast, ancient Greeks valued an intact prepuce, as evident from the nude figures of Renaissance art. In the 19th century, circumcision was touted as a treatment for excessive masturbation, seizures, epilepsy, and paraplegia...
March 8, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29619775/current-strategies-of-spinal-cord-protection-during-thoracoabdominal-aortic-surgery
#15
REVIEW
Akiko Tanaka, Hazim J Safi, Anthony L Estrera
Despite improved survival rates after thoracoabdominal aortic aneurysm repairs, paraplegia remains a devastating complication with high incidence, ranging from 3 to 10%. Ischemic insults to the spinal cord are unavoidable during thoracoabdominal aortic aneurysm repairs. There is no single measure that can prevent paraplegia alone. A multimodality approach is required to minimize the ischemic insults during thoracoabdominal aortic aneurysm repairs and postoperative second hit to the spinal cord. Distal aortic perfusion is important to maintain the collateral network perfusion pressure, while cerebrospinal drainage allows to directly maintain the spinal cord perfusion...
April 4, 2018: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29616887/upper-limb-muscle-activation-during-sports-video-gaming-of-persons-with-spinal-cord-injury
#16
Jeffrey P Jaramillo, M Elise Johanson, B Jenny Kiratli
OBJECTIVE: Video gaming as a therapeutic tool has largely been studied within the stroke population with some benefits reported in upper limb motor performance, balance, coordination, and cardiovascular status. To date, muscle activation of upper limb muscles in persons with spinal cord injuries (SCI) has not been studied during video game play. In this paper, we provide descriptive and comparative data for muscle activation and strength during gaming for players with tetraplegia and paraplegia, as well as, compare these results with data from traditional arm exercises (ie, biceps curl and shoulder press) with light weights which are commonly prescribed for a home program...
April 4, 2018: Journal of Spinal Cord Medicine
https://www.readbyqxmd.com/read/29613898/hereditary-myelopathies
#17
Peter Hedera
PURPOSE OF REVIEW: Hereditary myelopathies are very diverse genetic disorders, and many of them represent a widespread neurodegenerative process rather than isolated spinal cord dysfunction. This article reviews various types of inherited myelopathies, with emphasis on hereditary spastic paraplegias and spastic ataxias. RECENT FINDINGS: The ever-growing number of myelopathy-causing genes and broadening of phenotype-genotype correlations makes the molecular diagnosis of inherited myelopathies a daunting task...
April 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29608900/sensitivity-of-the-sci-fi-at-in-individuals-with-traumatic-spinal-cord-injury
#18
Tamra Keeney, Mary Slavin, Pamela Kisala, Pengsheng Ni, Allen W Heinemann, Susan Charlifue, Denise C Fyffe, Ralph J Marino, Leslie R Morse, Lynn A Worobey, Denise Tate, David Rosenblum, Ross Zafonte, David Tulsky, Alan M Jette
OBJECTIVE: To examine the ability of the Spinal Cord Injury Functional Index Assistive Technology (SCI-FI/AT) measure to detect change in persons with SCI. DESIGN: Multi-site, longitudinal (12-month follow-up). SETTING: 9 SCI Model Systems programs. PARTICIPANTS: 165 adults with SCI enrolled in the SCI Model Systems database. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: SCI-FI/AT CAT (Basic Mobility, Self-Care, Fine Motor Function, Wheelchair Mobility, and/or Ambulation) completed at discharge from rehabilitation and 12 months post-SCI...
March 30, 2018: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/29604224/mutations-in-vps13d-lead-to-a-new-recessive-ataxia-with-spasticity-and-mitochondrial-defects
#19
Eunju Seong, Ryan Insolera, Marija Dulovic, Erik-Jan Kamsteeg, Joanne Trinh, Norbert Brüggemann, Erin Sandford, Sheng Li, Ayse Bilge Ozel, Jun Z Li, Tamison Jewett, Anneke J A Kievit, Alexander Münchau, Vikram Shakkottai, Christine Klein, Catherine Collins, Katja Lohmann, Bart P van de Warrenburg, Margit Burmeister
OBJECTIVE: To identify novel causes of recessive ataxias, including spinocerebellar ataxia with saccadic intrusions, spastic ataxias and spastic paraplegia. METHODS: In an international collaboration, we independently performed exome sequencing in seven families with recessive ataxia and/or spastic paraplegia. To evaluate the role of VPS13D mutations, we evaluated a Drosophila knock-out model and investigated mitochondrial function in patient-derived fibroblast cultures...
March 31, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29602473/early-outcomes-with-a-single-sided-access-endovascular-stent
#20
Michael Hofmann, Felice Pecoraro, David Planer, Thomas Pfammatter, Gilbert Puippe, Dominique Bettex, Frank J Veith, Mario Lachat, Lyubov Chaykovska
OBJECTIVE: The objective of this study was to report the 1-year follow-up study results of the new Horizon stent graft (Endospan, Herzliya, Israel) from two different prospective consecutive trials. The Horizon abdominal aortic aneurysm stent graft system is a 14F profile system requiring only a single access site. It consists of three modules, introduced separately: base limb (iliac to iliac limb); distal aortic limb; and proximal aortic limb with a bare suprarenal crown and active fixation...
March 27, 2018: Journal of Vascular Surgery
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