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https://www.readbyqxmd.com/read/29908077/genome-sequencing-uncovers-phenocopies-in-primary-progressive-multiple-sclerosis
#1
Xiaoming Jia, Lohith Madireddy, Stacy Caillier, Adam Santaniello, Federica Esposito, Giancarlo Comi, Olaf Stuve, Yuan Zhou, Bruce Taylor, Trevor Kilpatrick, Filippo Martinelli-Boneschi, Bruce A C Cree, Jorge R Oksenberg, Stephen L Hauser, Sergio E Baranzini
OBJECTIVE: Primary progressive multiple sclerosis (PPMS) causes accumulation of neurologic disability from disease onset without clinical attacks typical of relapsing multiple sclerosis (RMS). However, whether genetic variation influences the disease course remains unclear. We aimed to determine whether mutations causative of neurologic disorders that share features with MS contribute to risk for developing PPMS. METHODS: We examined whole-genome sequencing (WGS) data from 38 PPMS and 81 healthy subjects of European ancestry...
June 16, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29907475/radiotherapy-for-langerhans-cell-histiocytosis-with-paraplegia-a-rare-oncologic-emergency-case-report-in-infancy-and-literature-review
#2
Kentaro Nakashima, Yuhki Koga, Yasunari Sakai, Hidetoshi Takada, Katsumi Harimaya, Saiji Ohga, Tomoaki Taguchi, Yoshinao Oda, Hiroshi Honda, Shouichi Ohga
BACKGROUND: Langerhans cell histiocytosis (LCH) is a clonal disease with focal or disseminated lesions that may compress the surrounding tissues, including the spinal cord. Because few reports have described the spinal symptoms as the first manifestation of pediatric LCH, the long-term neurological outcomes remain unclear. CASE REPORT AND LITERATURE REVIEW: We report a 21-month-old boy who presented with sudden-onset paraplegia. Imaging analyses revealed that osteolytic lesions and epidural tumors compressing the spinal cord at the T7-9 vertebrae...
June 12, 2018: Brain & Development
https://www.readbyqxmd.com/read/29896721/-analysis-of-spinocerebellar-ataxia-type-31-related-mutations-among-patients-from-mainland-china
#3
Ke Yang, Sheng Zeng, Zhen Liu, Shuying Shi, Weining Sun, Yanchun Yuan, Ling Weng, Hong Jiang, Lu Shen, Beisha Tang, Junling Wang
OBJECTIVE: To determine the frequency of spinocerebellar ataxia type 31 (SCA31) related mutations among patients from mainland China. METHODS: For a cohort of molecularly unassigned patients comprised of 295 SCA patients (including 98 probands from families featuring autosomal dominant SCA and 197 sporadic cases) and 81 patients with hereditary spastic paraplegia (HSP) (including 23 probands from families with autosomal dominant HSP and 58 sporadic cases),TGGAA pentanucleotide expansion insertional mutation of the BEAN/TK2 gene was detected using repeat-primed PCR followed by capillary gel electrophoresis...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29896044/open-replacement-of-the-thoracoabdominal-aorta-short-and-long-term-outcomes-at-a-single-institution
#4
Davide Carino, Young Erben, Mohammad A Zafar, Mrinal Singh, Adam J Brownstein, Maryann Tranquilli, John Rizzo, Bulat A Ziganshin, John A Elefteriades
Background  Despite much progress in the surgical and endovascular treatment of thoracoabdominal aortic diseases (TAADs), there is no consensus regarding the optimal approach to minimize operative mortality and end-organ dysfunction. We report our experience in the past 16 years treating TAAD by open surgery. Methods  A retrospective review of all TAAD patients who underwent an open repair since January 2000 was performed. The primary endpoints included early morbidity and mortality, and the secondary endpoints were overall death and rate of aortic reintervention...
June 2018: International Journal of Angiology: Official Publication of the International College of Angiology, Inc
https://www.readbyqxmd.com/read/29895883/differential-survival-after-traumatic-spinal-cord-injury-evidence-from-a-multi-center-longitudinal-cohort-study-in-switzerland
#5
Jonviea D Chamberlain, Hans Peter Gmünder, Kerstin Hug, Xavier Jordan, André Moser, Martin Schubert, Martin W G Brinkhof
STUDY DESIGN: Observational cohort study. OBJECTIVES: To understand differentials in the force of mortality with increasing time since injury according to key spinal cord injury (SCI) characteristics. SETTING: Specialized rehabilitation centers within Switzerland. METHODS: Data from the Swiss Spinal Cord Injury (SwiSCI) cohort study were used to model mortality in relation to age, sex, and lesion characteristics. Hazard ratios (HRs) and adjusted survival curves were estimated using flexible parametric survival models of time since discharge from first rehabilitation to death or 30 September 2011, whichever came first...
June 12, 2018: Spinal Cord
https://www.readbyqxmd.com/read/29893620/femoral-osteomyelitis-caused-by-cladophialophora-in-a-patient-without-known-immunocompromise
#6
Nirbhay S Jain, Christopher B Horn, Adrian A Coleoglou Centeno, Obeid N Ilahi, John E Mazuski, Grant V Bocchichio, Laurie J Punch
BACKGROUND: Chronic osteomyelitis associated with a stage IV decubitus ulcer is a challenging condition to manage, characterized by frequent relapses and need for long-term anti-microbial therapy. Although gram-positive cocci are the most common causes, fungal infections have been reported, usually in immunocompromised hosts. We present a case of Cladophialophora osteomyelitis in a patient without known immunocompromised that was managed with a Girdlestone pseudoarthroplasty. CASE REPORT: A 70-year-old male presented to our emergency room with fever, right hip pain, and purulent drainage from a right greater trochanter stage IV decubitus ulcer...
June 12, 2018: Surgical Infections
https://www.readbyqxmd.com/read/29892902/wide-phenotypic-spectrum-in-axonal-charcot-marie-tooth-neuropathy-type-2-patients-with-kif5a-mutations
#7
Da Eun Nam, Da Hye Yoo, Sun Seong Choi, Byung-Ok Choi, Ki Wha Chung
The kinesin heavy chain isoform 5A (KIF5A) gene, which encodes a microtubule-based motor protein, plays an important role in the transport of organelles in the nerve cells. Mutations in the KIF5A showed a wide phenotypic spectrum from hereditary spastic paraplegia (HSP) to axonal Charcot-Marie-Tooth peripheral neuropathy type 2 (CMT2). This study identified three pathogenic KIF5A mutations in Korean CMT2 patients by whole exome sequencing. Two mutations (p.Arg204Trp and p.Arg280His) were previously reported, but p...
January 2018: Genes & Genomics
https://www.readbyqxmd.com/read/29891881/how-are-genetic-test-results-being-used-by-australian-life-insurers
#8
K Barlow-Stewart, M Liepins, A Doble, M Otlowski
In Australia, the USA and many Asian countries the life insurance industry is self-regulated. Individuals must disclose genetic test results known to them in applications for new or updated policies including cover for critical care, income protection and death. There is limited information regarding how underwriting decisions are made for policies with such disclosures. The Australian Financial Services Council (FSC) provided de-identified data collected on applications with genetic test result disclosure from its life insurance member companies 2010-2013 to enable repetition of an independent examination undertaken of applications 1999-2003: age; gender; genetic condition; testing result; decision-maker; and insurance cover...
June 11, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29891078/recessive-ataxias
#9
Matthis Synofzik, Andrea H Németh
Recessive ataxias (spinocerebellar ataxias, recessive or SCARs) are a heterogeneous group of rare, mostly neurodegenerative genetic disorders which usually start in childhood or early adult life. They can be subdivided into two major groups: predominant sensory or afferent ataxias, which are disorders mainly of the peripheral input to the cerebellum, and predominant cerebellar ataxias, in which the cerebellum is primarily affected. Next-generation sequencing technology has enabled the identification of >100 novel SCAR genes in the last 5 years, although most of them are ultrarare...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29891058/spastic-ataxias
#10
Olena Bereznyakova, Nicolas Dupré
The presence of spasticity and pyramidal features is a hallmark of some of hereditary ataxias, such as autosomal-recessive spastic ataxia of Charlevoix-Saguenay, other primary spastic ataxias, Friedreich ataxia, or ataxia with isolated vitamin E deficiency. Certain spastic paraplegias, such as spastic paraplegia 7, may present as an ataxic phenotype and often share common pathophysiologic pathways with cerebellar ataxias. Because of the rarity and genetic heterogeneity of these conditions, their molecular diagnosis remains challenging and time consuming...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29885430/spinal-cord-ischemia-following-elective-endovascular-repair-of-infrarenal-aortic-aneurysms-a-systematic-review
#11
REVIEW
Konstantinos G Moulakakis, Vangelis G Alexiou, Georgios Karaolanis, George S Sfyroeras, George Theoharopoulos, Andreas Lazaris, John Kakisis, George Geroulakos
AIM: Spinal cord ischemia (SCI) following endovascular abdominal aortic aneurysm (AAA) repair (EVAR) is a rare but devastating complication. The mechanism underlying the occurrence of SCI following EVAR seems to be multifactorial and is underreported and not fully elucidated. The aim of the study was to investigate the clinical outcomes in patients with this serious complication. MATERIAL-METHODS: A systematic review of the current literature, as per PRISMA statement guidelines, to evaluate the incidence of SCI following elective EVAR was performed...
June 6, 2018: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/29882580/hyperbaric-oxygen-therapy-for-spinal-cord-ischaemia-after-complex-aortic-repair-a-retrospective-review
#12
Matteo Parotto, Maral Ouzounian, Ludwik Fedorko, George Oreopoulos, Thomas Lindsay, Rita Katznelson
BACKGROUND: Complex aortic repair (CAR) carries high rates of debilitating postoperative complications, including spinal cord injury. The rate of spinal cord deficits post-CAR is approximately 10%, with permanent paraplegia in 2.9% and paraparesis in 2.4% of patients. Treatment options are limited. Rescue therapies include optimization of spinal cord perfusion and oxygen delivery by mean arterial pressure augmentation (> 90 mm Hg), cerebrospinal fluid drainage, and preservation of adequate haemoglobin concentration (> 100 g L⁻¹)...
June 8, 2018: Anaesthesiology Intensive Therapy
https://www.readbyqxmd.com/read/29882329/gpt2-mutations-cause-developmental-encephalopathy-with-microcephaly-and-features-of-complicated-hereditary-spastic-paraplegia
#13
H Hengel, R Keimer, W Deigendesch, A Rieß, H Marzouqa, J Zaidan, P Bauer, L Schöls
Various genetic defects can cause intellectual and developmental disabilities (IDD). Often IDD is a symptom of a more complex neurodevelopmental or neurodegenerative syndrome. Identifying syndromic patterns is substantive for diagnostics and for understanding the pathomechanism of a disease. Recessive GPT2 mutations have recently been associated with IDD in four families. Here, we report a novel recessive GPT2 stop mutation p.Gln24* causing a complex IDD phenotype in a homozygous state in five patients from two consanguineous Arab families...
June 7, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29879513/a-case-report-of-idiopathic-spinal-subdural-hematoma-and-literature-review
#14
Yongli Wang, Hua Zheng, Yafeng Ji, Qian Lu, Xiongfeng Li, Xue-Sheng Jiang
STUDY DESIGN: This article reported a case of idiopathic spinal subdural hematoma (SDH) and made a review of this disease. OBJECTIVE: To make a review of idiopathic spinal subdural hematoma. SUMMARY OF BACKGROUND DATA: To the best of our knowledge, there are 20 cases idiopathic SDH only 1 case which reported the idiopathic SDH located in cervical region. METHODS: A 43-year-old man had a sudden onset of needle-like and continuous neck pain for 3 days with paresthesias and paraplegia...
June 4, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29877287/novel-spg11-mutations-in-a-patient-with-symptoms-mimicking-multiple-sclerosis
#15
Masako Mukai, Kishin Koh, Yuko Ohnuki, Eiichiro Nagata, Yoshihisa Takiyama, Shunya Takizawa
We describe the cases of two sisters with spastic paraplegia 11 (SPG11). The younger sister developed relapsing lesions in the brain white matter with enhancement during the acute phase that mimicked multiple sclerosis (MS). The elevation of myelin basic protein in the CSF suggested demyelination, but a normal IgG index, the absence of oligoclonal bands, and the ineffectiveness of steroid treatment indicate that an autoimmune mechanism may not have been involved. In these affected sisters, we identified novel compound heterozygous mutations in the SPG11 gene...
June 6, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29869587/first-in-man-intrathecal-application-of-neurite-growth-promoting-anti-nogo-a-antibodies-in-acute-spinal-cord-injury
#16
Klaus Kucher, Donald Johns, Doris Maier, Rainer Abel, Andreas Badke, Hagen Baron, Roland Thietje, Steven Casha, Renate Meindl, Baltazar Gomez-Mancilla, Christian Pfister, Rüdiger Rupp, Norbert Weidner, Anis Mir, Martin E Schwab, Armin Curt
BACKGROUND: Neutralization of central nervous system neurite growth inhibitory factors, for example, Nogo-A, is a promising approach to improving recovery following spinal cord injury (SCI). In animal SCI models, intrathecal delivery of anti-Nogo-A antibodies promoted regenerative neurite growth and functional recovery. OBJECTIVE: This first-in-man study assessed the feasibility, safety, tolerability, pharmacokinetics, and preliminary efficacy of the human anti-Nogo-A antibody ATI355 following intrathecal administration in patients with acute, complete traumatic paraplegia and tetraplegia...
May 1, 2018: Neurorehabilitation and Neural Repair
https://www.readbyqxmd.com/read/29865944/advanced-technical-considerations-for-implanting-the-t-branch-off-the-shelf-multibranched-stent-graft-to-treat-thoracoabdominal-aneurysms
#17
Marcelo Ferreira, Diego Ferreira, Rodrigo Cunha, Guilherme Bicalho, Eduardo Rodrigues
PURPOSE: To demonstrate different techniques and device modifications that can expand the anatomic suitability of the off-the-shelf multibranched t-Branch for treatment of thoracoabdominal aortic aneurysm. TECHNIQUE: The t-Branch device is not customized for specific patient anatomy, and the most frequent limitations to its use are an inadequate sealing zone and renal artery anatomy. Experience with this device has prompted the development of several techniques that can be employed to maximize the suitability of this stent-graft...
June 1, 2018: Journal of Endovascular Therapy
https://www.readbyqxmd.com/read/29859891/partial-loss-of-atp13a2-causes-selective-gliosis-independent-of-robust-lipofuscinosis
#18
Sruti Rayaprolu, Yasin B Seven, John Howard, Colin Duffy, Marcelle Altshuler, Christina Moloney, Benoit I Giasson, Jada Lewis
Loss-of-function mutations in ATP13A2 are associated with three neurodegenerative diseases: a rare form of Parkinson's disease termed Kufor-Rakeb syndrome (KRS), a lysosomal storage disorder termed neuronal ceroid lipofuscinosis (NCL), and a form of hereditary spastic paraplegia (HSP). Furthermore, recent data suggests that heterozygous carriers of mutations in ATP13A2 may confer risk for the development of Parkinson's disease, similar to the association of mutations in glucocerebrosidase (GBA) with both Parkinson's disease and Gaucher's disease, a lysosomal storage disorder...
May 31, 2018: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/29859878/a-rodent-brain-machine-interface-paradigm-to-study-the-impact-of-paraplegia-on-bmi-performance
#19
Nathaniel R Bridges, Michael Meyers, Jonathan Garcia, Patricia A Shewokis, Karen A Moxon
BACKGROUND: Most brain machine interfaces (BMI) focus on upper body function in non-injured animals, not addressing the lower limb functional needs of those with paraplegia. A need exists for a novel BMI task that engages the lower body and takes advantage of well-established rodent spinal cord injury (SCI) models to study methods to improve BMI performance. NEW METHOD: A tilt BMI task was designed that randomly applies different types of tilts to a platform, decodes the tilt type applied and rights the platform if the decoder correctly classifies the tilt type...
May 31, 2018: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/29851689/anesthetic-considerations-for-ivor-lewis-esophagectomy-in-a-patient-with-hereditary-spastic-paraplegia-a-case-report
#20
Phillip F Yang, David J R Links, Johnny Petrovski
Hereditary spastic paraplegia (HSP), also known as familial spastic paraparesis or Strümpell-Lorrain disease, is a rare group of inherited disorders characterized by progressive spastic weakness in the lower limbs due to axonal degeneration of the corticospinal tracts. We describe the anesthetic management of a 52-year-old man with HSP who underwent an Ivor-Lewis esophagectomy for esophageal adenocarcinoma. This is the first report in the literature describing the anesthetic management of a patient with HSP successfully undergoing complex thoracoabdominal surgery...
May 29, 2018: A&A practice
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