Database : MEDLINE
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[PMID]: 29524657
[Au] Autor:Coarelli G; Romano S; Travaglini L; Ferraldeschi M; Nicita F; Spadaro M; Fornasiero A; Frontali M; Salvetti M; Bertini E; Ristori G
[Ad] Address:Assistance Publique-Hôpitaux de Paris (AP-HP) & Paris 13 University, Avicenne Hospital, Neurology Department, 93009, Bobigny, France.
[Ti] Title:Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia.
[So] Source:Clin Neurol Neurosurg;168:60-63, 2018 Mar 03.
[Is] ISSN:1872-6968
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non-neurological signs (i.e., complicated HSPs). The clinical variability of HSPs is associated with a wide genetic heterogeneity, with more than eighty causative genes known. Recently, next generation sequencing (NGS) has allowed increasing genetic definition in such a heterogeneous group of disorders. We report on a 56- year-old man affected by sporadic complicated HSP consisting of a pyramidal syndrome, cerebellar ataxia, congenital cataract, pes cavus, axonal sensory-motor peripheral neuropathy and cognitive decline. Brain MRI showed cerebellar atrophy and thin corpus callosum. By NGS we found a novel homozygous biallelic c.452-1G > C mutation in the b-glucosidase 2 gene (GBA2), known to be causative for autosomal recessive hereditary spastic paraplegia type 46 (SPG46). The rarity of this inherited form besides reporting on a novel mutation, expands the genetic and clinical spectrum of SPG46 related HSP.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

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[PMID]: 29524462
[Au] Autor:Tigkiropoulos K; Sigala F; Tsilimigras DI; Moris D; Filis K; Melas N; Karamanos D; Kontogiannis C; Lazaridis I; Saratzis N
[Ad] Address:1(st) Department of Surgery, Aristotle University Thessaloniki, Papageorgiou General Hospital, Thessaloniki, Greece.
[Ti] Title:Endovascular Repair of Blunt Thoracic Aortic Trauma: Is Post-Implant Hypertension an Incidental Finding?
[So] Source:Ann Vasc Surg;, 2018 Mar 07.
[Is] ISSN:1615-5947
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:BACKGROUND: Blunt thoracic aortic injury (BTAI) is the second most common cause of death in trauma patients. Nowadays, thoracic endovascular aortic repair (TEVAR) has become the treatment of choice due to lower rates of mortality, paraplegia and stroke. However, concerns have been raised whether graft implantation is related to the development of hypertension in the postoperative period. OBJECTIVES: To report short- and long-term outcomes of patients undergoing TEVAR for BTAIs at a tertiary hospital as well as investigate post-implant hypertension. MATERIALS & METHODS: Between January 2005 and January 2016, 23 patients with blunt thoracic aortic trauma underwent TEVAR. Median age was 44 years (range 18-73). Among them, 14 (60.9%) patients were diagnosed with aortic rupture, while 9 (39.1%) with pseudoaneurysm. Α single thoracic stent graft was deployed in 21 patients and the rest 2 patients received two stent grafts. RESULTS: Complete exclusion of the injury was feasible in all subjects (100% primary success). The left subclavian artery (SCA) was intentionally covered in 6 patients (26%). Intraoperative complications included one nonfatal stroke managed conservatively and one external iliac artery rupture, treated with iliofemoral bypass. One patient (4.3%) died on the first postoperative day in the intensive care unit (ICU) due to hemorrhagic shock. The overall 30-day mortality and morbidity were 4.3% and 8.7%, respectively. New-onset post-implantation arterial hypertension was observed in 8 (34.8%) previously non-hypertensive patients. Younger age (p=0.027) and SCA coverage (p=0.01) were identified as potential risk factors for the development of post-implant hypertension, whereas the presence of concomitant injuries (p=0.3) and intraoperative complications (p=0.1) were not. Following a median follow-up of 100 months (range, 18-120), six of them still remain on antihypertensive therapy, whereas the other 2 did not require permanent treatment. CONCLUSIONS: TEVAR is a safe approach in the treatment of BTAI associated with low short- and long-term morbidity and mortality rates. Lower age and SCA coverage may contribute to the development of post-implant hypertension. Further larger cohort studies are warranted in order to elucidate the underlying mechanisms of post-implant hypertension.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

  3 / 22495 MEDLINE  
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[PMID]: 29342275
[Au] Autor:Brenner D; Yilmaz R; Müller K; Grehl T; Petri S; Meyer T; Grosskreutz J; Weydt P; Ruf W; Neuwirth C; Weber M; Pinto S; Claeys KG; Schrank B; Jordan B; Knehr A; Günther K; Hübers A; Zeller D; Kubisch C; Jablonka S; Sendtner M; Klopstock T; de Carvalho M; Sperfeld A; Borck G; Volk AE; Dorst J; Weis J; Otto M; Schuster J; Del Tredici K; Braak H; Danzer KM; Freischmidt A; Meitinger T; Strom TM; Ludolph AC; Andersen PM; Weishaupt JH; German ALS network MND-NET
[Ad] Address:Neurology Department, Ulm University, Ulm, Germany.
[Ti] Title:Hot-spot KIF5A mutations cause familial ALS.
[So] Source:Brain;, 2018 Jan 12.
[Is] ISSN:1460-2156
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of the kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and Charcot-Marie-Tooth disease type 2 (CMT2). Moreover, heterozygous de novo frame-shift mutations in the C-terminal domain of KIF5A are associated with neonatal intractable myoclonus, a neurodevelopmental syndrome. These findings, together with the observation that many of the disease genes associated with amyotrophic lateral sclerosis disrupt cytoskeletal function and intracellular transport, led us to hypothesize that mutations in KIF5A are also a cause of amyotrophic lateral sclerosis. Using whole exome sequencing followed by rare variant analysis of 426 patients with familial amyotrophic lateral sclerosis and 6137 control subjects, we detected an enrichment of KIF5A splice-site mutations in amyotrophic lateral sclerosis (2/426 compared to 0/6137 in controls; P = 4.2 × 10-3), both located in a hot-spot in the C-terminus of the protein and predicted to affect splicing exon 27. We additionally show co-segregation with amyotrophic lateral sclerosis of two canonical splice-site mutations in two families. Investigation of lymphoblast cell lines from patients with KIF5A splice-site mutations revealed the loss of mutant RNA expression and suggested haploinsufficiency as the most probable underlying molecular mechanism. Furthermore, mRNA sequencing of a rare non-synonymous missense mutation (predicting p.Arg1007Gly) located in the C-terminus of the protein shortly upstream of the splice donor of exon 27 revealed defective KIF5A pre-mRNA splicing in respective patient-derived cell lines owing to abrogation of the donor site. Finally, the non-synonymous single nucleotide variant rs113247976 (minor allele frequency = 1.00% in controls, n = 6137), also located in the C-terminal region [p.(Pro986Leu) in exon 26], was significantly enriched in familial amyotrophic lateral sclerosis patients (minor allele frequency = 3.40%; P = 1.28 × 10-7). Our study demonstrates that mutations located specifically in a C-terminal hotspot of KIF5A can cause a classical amyotrophic lateral sclerosis phenotype, and underline the involvement of intracellular transport processes in amyotrophic lateral sclerosis pathogenesis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:Publisher
[do] DOI:10.1093/brain/awx370

  4 / 22495 MEDLINE  
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[PMID]: 29236946
[Au] Autor:Minnerop M; Kurzwelly D; Rattay TW; Timmann D; Hengel H; Synofzik M; Stendel C; Horvath R; Schüle R; Ramirez A
[Ad] Address:Institute of Neuroscience and Medicine (INM-1), Research Centre Juelich, 52425 Jülich, Germany.
[Ti] Title:Reply: POLR3A variants in hereditary spastic paraplegia and ataxia.
[So] Source:Brain;141(1):e2, 2018 Jan 01.
[Is] ISSN:1460-2156
[Cp] Country of publication:England
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Data-Review
[do] DOI:10.1093/brain/awx291

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[PMID]: 29228109
[Au] Autor:Gauquelin L; Tétreault M; Thiffault I; Farrow E; Miller N; Yoo B; Bareke E; Yoon G; Suchowersky O; Dupré N; Tarnopolsky M; Brais B; Wolf NI; Majewski J; Rouleau GA; Gan-Or Z; Bernard G
[Ad] Address:Department of Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada.
[Ti] Title:POLR3A variants in hereditary spastic paraplegia and ataxia.
[So] Source:Brain;141(1):e1, 2018 Jan 01.
[Is] ISSN:1460-2156
[Cp] Country of publication:England
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Data-Review
[do] DOI:10.1093/brain/awx290

  6 / 22495 MEDLINE  
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[PMID]: 29523439
[Au] Autor:Kaushik S; Gasper WJ; Ramanan B; Vartanian SM; Reilly LM; Chuter TAM; Hiramoto JS
[Ad] Address:Division of Vascular and Endovascular Surgery, University of California, San Francisco, San Francisco, Calif.
[Ti] Title:The impact of prior aortic surgery on outcomes after multibranched endovascular aortic aneurysm repair.
[So] Source:J Vasc Surg;, 2018 Mar 06.
[Is] ISSN:1097-6809
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVE: The purpose of this study was to evaluate the impact of prior aortic surgery on outcomes after multibranched endovascular aneurysm repair (MBEVAR) of thoracoabdominal aortic aneurysms (TAAAs) and pararenal aortic aneurysms (PRAAs). METHODS: From July 2005 to October 2016, there were 153 patients who underwent elective endovascular repair of TAAA and PRAA using multibranched stent grafts. Data on demographics, procedural details, and outcomes were collected prospectively. RESULTS: The mean age was 73 ± 8 years, and 113 of 153 (74%) were men. Mean aneurysm diameter was 67 ± 9 mm. Before MBEVAR, 68 of 153 (44%) patients had undergone a prior aortic surgery; 49 of 68 (72%) had prior open aortic surgery, 15 of 68 (22%) had prior endovascular aortic surgery, and 4 of 68 (6%) had both. There were no significant differences in age, sex, preoperative aneurysm diameter, or medical comorbidities (coronary artery disease, lung disease, diabetes mellitus, or hypertension) in patients with previous aortic surgery compared with those without. Patients with previous aortic surgery had higher fluoroscopy times (131 ± 59 vs 118 ± 54 minutes; P = .18) and procedural times (370 ± 101 vs 345 ± 118 minutes; P = .27) during MBEVAR, but these differences did not reach statistical significance. Patients without previous aortic intervention had higher rates of postoperative paraplegia (9/85 [11%]) vs (0/68 [0%]; P = .005) compared with those with previous aortic surgery. Of 153 patients, 3 (2%) had a postoperative stroke, and this was not different between the two groups. Median follow-up time was 2.5 years (interquartile range, 1.0-4.5 years) and did not differ between those with and those without previous aortic surgery. Kaplan-Meier estimated 5-year freedom from aneurysm-related mortality and overall mortality was 90% and 48%, respectively, and did not differ between the two groups. There was also no difference in branch vessel occlusion between the two groups. CONCLUSIONS: A high proportion of patients undergoing MBEVAR for TAAA or PRAA have already undergone prior open or endovascular aortic procedures, but this does not appear to increase the complication rate or affect midterm clinical outcomes. Patients with prior aortic surgery who undergo MBEVAR have lower rates of paraplegia compared with those without prior surgery, which may be due to effective recruitment of collateral circulation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

  7 / 22495 MEDLINE  
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[PMID]: 29523405
[Au] Autor:Yamanaka K; Eldeiry M; Aftab M; Mares J; Ryan TJ; Meng X; Weyant MJ; Cleveland JC; Fullerton DA; Reece TB
[Ad] Address:Division of Cardiothoracic Surgery, Department of Surgery, University of Colorado, Aurora, Colo. Electronic address: katsuhiro.yamanaka@ucdenver.edu.
[Ti] Title:Optimized induction of beta common receptor enhances the neuroprotective function of erythropoietin in spinal cord ischemic injury.
[So] Source:J Thorac Cardiovasc Surg;, 2018 Feb 09.
[Is] ISSN:1097-685X
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Paraplegia remains the most feared complication of complex thoracoabdominal aortic intervention. Although erythropoietin (EPO) has demonstrated neuroprotective effects in spinal cord ischemia, it does not work until expression of the beta common receptor subunit of the EPO receptor (ßcR) is induced by ischemia. We hypothesized that the ßcR can be induced by diazoxide (DZ), amplifying the neuroprotective effects of EPO in spinal cord ischemia-reperfusion injury. METHODS: For the DZ time trial, adult male C57/BL6 mice received DZ (20 mg/kg) by oral gavage. Spinal cords were harvested after 0, 12, 24, 36, and 48 hours of administration. To evaluate optimal dosing, DZ was administered at 0, 5, 10, 20, and 40 mg/kg. The expression of ßcR was assessed by Western blot analysis. Five groups were studied: PBS (pretreatment)+PBS (immediately before), PBS+EPO, DZ+PBS, DZ+EPO, and sham (without cross-clamping). Spinal cord ischemia was induced by 4 minutes of thoracic aortic cross-clamping. Functional scoring (Basso Mouse Score) was done at 12-hour intervals for 48 hours, and spinal cords were harvested for histological analysis. RESULTS: Western blot analysis demonstrated that optimal ßcR up-regulation occurred at 36 hours after DZ administration, and the optimal DZ dosage for ßcR induction was 20 mg/kg. Motor function at 48 hours after treatment was significantly better preserved in the DZ+EPO group compared with all other groups, and was significantly better preserved in the DZ only and EPO only groups compared with control (PBS+PBS). CONCLUSIONS: Pharmacologic up-regulation of ßcR with DZ can increase the efficacy of EPO in preventing spinal cord ischemia and reperfusion injury. Improved understanding of this synergetic mechanism may serve to further prevent ischemic complications for high-risk aortic intervention.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

  8 / 22495 MEDLINE  
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Puech-Leäo, Pedro
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[PMID]: 29518516
[Au] Autor:Diamante Leiderman DB; Wolosker N; Vieira de Melo Oliveira M; Miranda de Carvalho HA; Trajano de Freitas Barão F; Zerati AE; De Luccia N; Puech-Leão P
[Ad] Address:Research Fellow in Vascular and Endovascular Surgery, Hospital Israelita Albert Einstein, São Paulo, Brazil. Electronic address: dah.diamante@gmail.com.
[Ti] Title:Paraplegia of Lower Limbs Caused By A Segmental Thrombosis of the Descending Thoracic Aorta Reversed With Endovascular Treatment - A Case Report And Literature Review.
[So] Source:Ann Vasc Surg;, 2018 Mar 05.
[Is] ISSN:1615-5947
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:BACKGROUND: Transient paraplegia of the lower limbs is a rare condition and when has a vascular etiology is usually associated with thromboembolic events, aortic dissection, aortic aneurysms, or as a complication of the surgical correction of those deseases. There is no case reported of acute paraplegia caused by a segmental thrombotic subocclusion of the descending thoracic aorta. CASE REPORT: We report a not yet described clinical situation of a young patient (51 years) admitted to the emergency care department for treatment of systemic arterial hypertension of difficult control with 4 antihypertensive medication classes. At the intensive care unit for treatment with intravenous antihypertensive, evolved with acute paraplegia and a segmental thrombotic subocclusion of the descending thoracic aorta, previously free of disease, was diagnosed. He was submitted to endovascular treatment with total recovery of the deficits. CONCLUSION: The previously normal descending thoracic aorta may be a site of segmental thrombosis and may lead to paraplegia. Early endovascular treatment can reverse this type of situation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher

  9 / 22495 MEDLINE  
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[PMID]: 29518504
[Au] Autor:Püschel A; Ebel R; Fuchs P; Hofmann J; Schubert JK; Roesner JP; Bergt S; Wree A; Vollmar B; Klar E; Bünger CM; Kischkel S
[Ad] Address:Department of General, Thoracic, Vascular and Transplantation Surgery, Rostock University Medical Center, Rostock, Germany.
[Ti] Title:Can recognition of spinal ischemia be improved? Application of motor-evoked potentials, serum markers and breath gas analysis in an acutely instrumented pig model.
[So] Source:Ann Vasc Surg;, 2018 Mar 05.
[Is] ISSN:1615-5947
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:BACKROUND: Paraplegia due to spinal cord ischemia (SCI) is a serious complication after repair of thoraco-abdominal aortic aneurysms. For prevention and early treatment of spinal ischemia intraoperative monitoring of spinal cord integrity is essential. This study was intended to improve recognition of SCI through a combination of transcranial motor-evoked potentials (tc-MEPs), serum markers and innovative breath analysis. METHODS: In nine female German landrace pigs, tc-MEPs were captured, markers of neuronal damage were determined in blood and volatile organic compounds (VOCs) were analysed in exhaled air. After thoraco-phrenico-laparotomy SCI was initiated through sequential clamping (n=4) or permantly ligating (n=5) spinal arteries (SAs) of the abdominal and thoracic aorta in caudiocranial orientation until a drop in the tc-MEPs to at least 25% of the baseline was recorded. VOCs in breath were determined by means of solid-phase micro-extraction coupled with gas chromatography mass spectrometry. After waking up, clinical and neurological status was evaluated (Tarlov-score). Spinal cord histology was obtained post mortem. RESULTS: Permanent vessel ligature induced a worse neurological outcome and a higher number of necrotic motor neurons compared to clamping. Changes of serum markers remained unspecific. After laparotomy exhaled acetone and isopropanol showed highest concentrations, pentane and hexane increased during ischemia-reperfusion. CONCLUSIONS: In order to mimic spinal ischemia occurring in humans during aortic aneurysm repair, animal models have to be meticulously evaluated concerning vascular anatomy and function. Volatiles from breath indicated metabolic stress during surgery and oxidative damage through ischemia reperfusion. Breath VOCs may provide complimentary information to conventional monitoring methods.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher

  10 / 22495 MEDLINE  
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[PMID]: 29518090
[Au] Autor:Pulido-Valdeolivas I; Gómez-Andrés D; Martín-Gonzalo JA; Rodríguez-Andonaegui I; López-López J; Pascual-Pascual SI; Rausell E
[Ad] Address:Department of Anatomy, Histology and Neuroscience, TRADESMA-IdiPaz Universidad Autónoma de Madrid, Madrid, Spain.
[Ti] Title:Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests.
[So] Source:PLoS One;13(3):e0192345, 2018.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The Hereditary Spastic Paraplegias (HSP) are a group of heterogeneous disorders with a wide spectrum of underlying neural pathology, and hence HSP patients express a variety of gait abnormalities. Classification of these phenotypes may help in monitoring disease progression and personalizing therapies. This is currently managed by measuring values of some kinematic and spatio-temporal parameters at certain moments during the gait cycle, either in the doctor´s surgery room or after very precise measurements produced by instrumental gait analysis (IGA). These methods, however, do not provide information about the whole structure of the gait cycle. Classification of the similarities among time series of IGA measured values of sagittal joint positions throughout the whole gait cycle can be achieved by hierarchical clustering analysis based on multivariate dynamic time warping (DTW). Random forests can estimate which are the most important isolated parameters to predict the classification revealed by DTW, since clinicians need to refer to them in their daily practice. We acquired time series of pelvic, hip, knee, ankle and forefoot sagittal angular positions from 26 HSP and 33 healthy children with an optokinetic IGA system. DTW revealed six gait patterns with different degrees of impairment of walking speed, cadence and gait cycle distribution and related with patient's age, sex, GMFCS stage, concurrence of polyneuropathy and abnormal visual evoked potentials or corpus callosum. The most important parameters to differentiate patterns were mean pelvic tilt and hip flexion at initial contact. Longer time of support, decreased values of hip extension and increased knee flexion at initial contact can differentiate the mildest, near to normal HSP gait phenotype and the normal healthy one. Increased values of knee flexion at initial contact and delayed peak of knee flexion are important factors to distinguish GMFCS stages I from II-III and concurrence of polyneuropathy.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.1371/journal.pone.0192345


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