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排序方式: 共有5806条查询结果,搜索用时 15 毫秒
991.
Christina Canavati Karl Martin Klein Zaid Afawi Manuela Pendziwiat Amal Abu Rayyan Lara Kamal Fouad Zahdeh Ikram Qaysia Ingo Helbig Moien Kanaan 《Epilepsia》2019,60(6):e67-e73
Despite tremendous progress through next generation sequencing technologies, familial focal epilepsies are insufficiently understood. We sought to identify the genetic basis in multiplex Palestinian families with familial focal epilepsy with variable foci (FFEVF). Family I with 10 affected individuals and Family II with five affected individuals underwent detailed phenotyping over three generations. The phenotypic spectrum of the two families varied from nonlesional focal epilepsy including nocturnal frontal lobe epilepsy to severe structural epilepsy due to hemimegalencephaly. Whole‐exome sequencing and single nucleotide polymorphism array analysis revealed pathogenic variants in NPRL3 in each family, a partial ~38‐kb deletion encompassing eight exons (exons 8‐15) and the 3′‐untranslated region of the NPRL3 gene in Family I, and a de novo nonsense variant c.1063C>T, p.Gln355* in Family II. Furthermore, we identified a truncating variant in the PDCD10 gene in addition to the NPRL3 variant in a patient with focal epilepsy from Family I. The individual also had developmental delay and multiple cerebral cavernomas, possibly demonstrating a digenic contribution to the individual's phenotype. Our results implicate the association of NPRL3 with hemimegalencephaly, expanding the phenotypic spectrum of NPRL3 in FFEVF and underlining that partial deletions are part of the genotypic spectrum of NPRL3 variants. 相似文献
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994.
Laura C. Burlage Lara Hessels Rianne van Rijn Alix P. M. Matton Masato Fujiyoshi Aad P. van den Berg Koen M.E.M. Reyntjens Peter Meyer Marieke T. de Boer Ruben H. J. de Kleine Maarten W. Nijsten Robert J. Porte 《American journal of transplantation》2019,19(4):1061-1071
Liver transplantation is frequently associated with hyperkalemia, especially after graft reperfusion. Dual hypothermic oxygenated machine perfusion (DHOPE) reduces ischemia/reperfusion injury and improves graft function, compared to conventional static cold storage (SCS). We examined the effect of DHOPE on ex situ and in vivo shifts of potassium and sodium. Potassium and sodium shifts were derived from balance measurements in a preclinical study of livers that underwent DHOPE (n = 6) or SCS alone (n = 9), followed by ex situ normothermic reperfusion. Similar measurements were performed in a clinical study of DHOPE‐preserved livers (n = 10) and control livers that were transplanted after SCS only (n = 9). During DHOPE, preclinical and clinical livers released a mean of 17 ± 2 and 34 ± 6 mmol potassium and took up 25 ± 9 and 24 ± 14 mmol sodium, respectively. After subsequent normothermic reperfusion, DHOPE‐preserved livers took up a mean of 19 ± 3 mmol potassium, while controls released 8 ± 5 mmol potassium. During liver transplantation, blood potassium levels decreased upon reperfusion of DHOPE‐preserved livers while levels increased after reperfusion of SCS‐preserved liver, delta potassium levels were ‐0.77 ± 0.20 vs. +0.64 ± 0.37 mmol/L, respectively (P = .002). While hyperkalemia is generally anticipated during transplantation of SCS‐preserved livers, reperfusion of hypothermic machine perfused livers can lead to decreased blood potassium or even hypokalemia in the recipient. 相似文献
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996.
Carneiro Lara S. F. Mota Maria Paula Vieira-Coelho Maria Augusta Alves Rita C. Fonseca António Manuel Vasconcelos-Raposo José 《European archives of psychiatry and clinical neuroscience》2017,267(2):117-121
European Archives of Psychiatry and Clinical Neuroscience - A randomized controlled trial was conducted to assess the effects of exercise plus pharmacotherapy on monoamine neurotransmitters... 相似文献
997.
Grégoire Leleup Audrey Fohlen Anthony Dohan Lara Bryan-Rest Vincent Le Pennec Olivier Limot Olivier Le Dref Philippe Soyer Jean-Pierre Pelage 《Journal of vascular and interventional radiology : JVIR》2017,28(5):696-701
Purpose
To evaluate the feasibility and efficacy of embolization of the round ligament arteries in the management of postpartum hemorrhage.Materials and Methods
Eleven women (mean age, 31 y) underwent round ligament artery because of persistent or recurrent hemorrhage after initial uterine or internal iliac artery embolization.Results
A total of 16 round ligament arteries were embolized. The round ligament artery arose from the inferior epigastric artery in 11 cases (69%) and directly from the external iliac artery in 5 (31%). Embolization was performed with calibrated microspheres in 7 women (63%) and gelatin sponge pledgets in 4 (37%). Coils were used in addition to gelatin sponge pledgets in 3 patients. Hemostasis was achieved in 10 patients (91%), and 1 required additional conservative surgery. The mean hemoglobin level before embolization was 7.2 g/dL ± 1 and increased significantly on day 1 after embolization (10.3 g/dL ± 1.0; P < .05). No procedure-related complication was reported. The mean hospital stay was 5.6 days ± 2. Two patients had further pregnancies 13 and 14 months after embolization.Conclusions
Selective embolization of the round ligament artery is a safe and effective treatment for obstetric hemorrhage. It should be considered in cases of persistent or recurrent bleeding after initial uterine or internal iliac artery embolization. 相似文献998.
European consensus on the concepts and measurement of the pathophysiological neuromuscular responses to passive muscle stretch
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J. C. van den Noort E. Aertbeliën M. Bonikowski S. M. Braendvik E. W. Broström A. I. Buizer J. H. Burridge A. van Campenhout B. Dan J. F. Fleuren S. Grunt F. Heinen H. L. Horemans C. Jansen A. Kranzl B. K. Krautwurst M. van der Krogt S. Lerma Lara C. M. Lidbeck J.‐P. Lin I. Martinez C. Meskers D. Metaxiotis G. Molenaers D. A. Patikas O. Rémy‐Néris K. Roeleveld A. P. Shortland J. Sikkens L. Sloot R. J. Vermeulen C. Wimmer A. S. Schröder S. Schless J. G. Becher K. Desloovere J. Harlaar 《European journal of neurology》2017,24(7):981-e38
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1000.
Ricielle Lopes Augusto Alinny Rosendo Isaac Ivanildo Inácio da Silva-Júnior David Filipe de Santana Diorginis José Soares Ferreira Claudia Jacques Lagranha Catarina Gonçalves-Pimentel Marcelo Cairrão Araujo Rodrigues Belmira Lara da Silveira Andrade-da-Costa 《Cerebellum (London, England)》2017,16(1):103-117
The cerebellum is vulnerable to malnutrition effects. Notwithstanding, it is able to incorporate higher amount of docosahexaenoic acid (DHA) than the cerebral cortex (Cx) when low n-6/n-3 fatty acid ratio is present in a multideficient diet. Considering importance of DHA for brain redox balance, we hypothesize that this cerebellum feature improves its antioxidant status compared to the Cx. A chronic malnutrition status was induced on dams before mating and kept until weaning or adulthood (offspring). A group nutritionally rehabilitated from weaning was also analyzed. Morphometric parameters, total-superoxide dismutase (t-SOD) and catalase activities, lipoperoxidation (LP), nitric oxide (NO), reduced (GSH) and oxidized (GSSG) glutathione, reactive oxygen species (ROS), and reduced nicotinamide adenine dinucleotide/phosphate levels were assessed. Both ROS and LP levels were increased (~53 %) in the Cx of malnourished young animals while the opposite was seen in the cerebellum (72 and 20 % of the control, respectively). Consistently, lower (~35 %) and higher t-SOD (~153 %) and catalase (CAT) (~38 %) activities were respectively detected in the Cx and cerebellum compared to the control. In malnourished adult animals, redox balance was maintained in the cerebellum and recovered in the Cx (lower ROS and LP levels and higher GSH/GSSG ratio). NO production was impaired by malnutrition at either age, mainly in the cerebellum. The findings suggest that despite a multinutrient deficiency and a modified structural development, a low dietary n-6/n-3 ratio favors early antioxidant resources in the male cerebellum and indicates an important role of astrocytes in the redox balance recovery of Cx in adulthood. 相似文献