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https://www.readbyqxmd.com/read/29050398/delineating-sptan1-associated-phenotypes-from-isolated-epilepsy-to-encephalopathy-with-progressive-brain-atrophy
#1
Steffen Syrbe, Frederike L Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L Helbig, Tilman Polster, Beate Albrecht, Ulrich Bernbeck, Ellen van Binsbergen, Saskia Biskup, Lydie Burglen, Jonas Denecke, Bénédicte Heron, Henrike O Heyne, Georg F Hoffmann, Frauke Hornemann, Takeshi Matsushige, Ryuki Matsuura, Mitsuhiro Kato, G Christoph Korenke, Alma Kuechler, Constanze Lämmer, Andreas Merkenschlager, Cyril Mignot, Susanne Ruf, Mitsuko Nakashima, Hirotomo Saitsu, Hannah Stamberger, Tiziana Pisano, Jun Tohyama, Sarah Weckhuysen, Wendy Werckx, Julia Wickert, Francesco Mari, Nienke E Verbeek, Rikke S Møller, Bobby Koeleman, Naomichi Matsumoto, William B Dobyns, Domenica Battaglia, Johannes R Lemke, Kerstin Kutsche, Renzo Guerrini
De novo in-frame deletions and duplications in the SPTAN1 gene, encoding the non-erythrocyte αII spectrin, have been associated with severe West syndrome with hypomyelination and pontocerebellar atrophy. We aimed at comprehensively delineating the phenotypic spectrum associated with SPTAN1 mutations. Using different molecular genetic techniques, we identified 20 patients with a pathogenic or likely pathogenic SPTAN1 variant and reviewed their clinical, genetic and imaging data. SPTAN1 de novo alterations included seven unique missense variants and nine in-frame deletions/duplications of which 12 were novel...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29050391/psychogenic-amnesia-syndromes-outcome-and-patterns-of-retrograde-amnesia
#2
Neil A Harrison, Kate Johnston, Federica Corno, Sarah J Casey, Kimberley Friedner, Kate Humphreys, Eli J Jaldow, Mervi Pitkanen, Michael D Kopelman
There are very few case series of patients with acute psychogenic memory loss (also known as dissociative/functional amnesia), and still fewer studies of outcome, or comparisons with neurological memory-disordered patients. Consequently, the literature on psychogenic amnesia is somewhat fragmented and offers little prognostic value for individual patients. In the present study, we reviewed the case records and neuropsychological findings in 53 psychogenic amnesia cases (ratio of 3:1, males:females), in comparison with 21 consecutively recruited neurological memory-disordered patients and 14 healthy control subjects...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29050157/-observation-of-clinical-and-electrophysiological-features-in-patients-with-distal-myasthenia-gravis
#3
F Jian, H B Wang, N Chen, S Yang, Y Liu, Y Z Zhao, L Zhang, H Pan, X H Zhang
Objective: To explore the clinical and electrophysiological features and prognosis of distal myasthenia gravis (MG). Methods: Data of MG patients in Beijing Tiantan Hospital from October 2016 to March 2017 were reviewed, including thorough neurological examinations, nerve conduction studies, repetitive nerve stimulations (RNS) and needle electromyographies. Distal MG patients were included and were analyzed as to their clinical and electrophysiological features and response to treatments. Results: Four patients (7...
October 10, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29050101/-factors-of-hearing-preservation-in-acoustic-neuroma-surgery
#4
H Y Tan, Z Y Wang, H Wu
Over the past 50 years, the focus of acoustic neuroma surgery has shifted from low mortality and tumor resection to retention of neurological function. Hearing preservation is another point in addition to facial nerve function preservation. Hearing preservation rates overall ranged from 2% to 93% in recent studies. Characteristics such as approach, pre-operative neurological function, tumor size, nerve of origin and fundal fluid of the internal auditory canal have been reported as possible influencing factors...
October 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/29050006/recent-insights-into-the-biological-functions-of-sestrins-in-health-and-disease
#5
Menglong Wang, Yao Xu, Jianfang Liu, Jing Ye, Wenhui Yuan, Huimin Jiang, Zhen Wang, Hong Jiang, Jun Wan
Sestrins (Sesns) have been identified as a family of highly conserved stress-inducible proteins that are strongly up-regulated by various stresses, including DNA damage, oxidative stress, and hypoxia. The Sesns play protective roles in most physiological and pathological conditions mainly through the regulation of oxidative stress, inflammation, autophagy, endoplasmic reticulum stress, and metabolic homeostasis. In this review, we discussed the possible regulators of Sesns expression, such as p53, forkhead box O, nuclear factor erythroid 2 like 2 (Nrf2), NH (2)-terminal kinase (JNK)/c-Jun pathway and hypoxia-inducible factor-1α (Hif-1α), and the downstream pathways regulated by the Sesns including AMP-activated protein kinase (AMPK)/mammalian target of rapamycin (mTOR) signaling, mitogen-activated protein kinases (MAPKs) signaling, Nrf2 signaling, NADPH oxidase signaling and transforming growth factor β (TGF-β) signaling in heart diseases, lung diseases, gastrointestinal tract diseases, liver and metabolism diseases, neurological diseases, kidney diseases and immunological diseases...
October 19, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29049232/case-report-central-nervous-system-involvement-of-human-graft-versus-host-disease-report-of-7-cases-and-a-review-of-literature
#6
Mathilde Ruggiu, Wendy Cuccuini, Karima Mokhtari, Véronique Meignin, Régis Peffault de Latour, Marie Robin, Flore Sicre de Fontbrune, Aliénor Xhaard, Gérard Socié, David Michonneau
RATIONALE: Central nervous system (CNS) involvement of graft versus host disease (GvHD) is a rare cause of CNS disorders after allogeneic hematopoietic stem cell transplantation (allo-HSCT). Chronic CNS GvHD symptoms are heterogeneous and include cerebrovascular manifestations, demyelinating disease and immune-mediated encephalitis. CNS-Acute GvHD is not formally defined in literature. PATIENTS CONCERNS AND DIAGNOSES: We report 7 cases of CNS-GvHD among which two had histological-proven disease...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29049144/the-etiology-of-neuronal-development-in-craniosynostosis-a-working-hypothesis
#7
Eric D Brooks, Joel S Beckett, Jenny Yang, Andrew T Timberlake, Alexander H Sun, Carolyn Chuang, John A Persing
Craniosynostosis is one of the most common craniofacial conditions treated by neurologic and plastic surgeons. In addition to disfigurement, children with craniosynostosis experience significant cognitive dysfunction later in life. Surgery is performed in infancy to correct skull deformity; however, the field is at a crossroads regarding the best approach for correction. Since the cause of brain dysfunction in these patients has remained uncertain, the role and type of surgery might have in attenuating the later-observed cognitive deficits through impact on the brain has been unclear...
October 18, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29049132/one-year-survival-after-in-hospital-cardiac-arrest-does-pre-arrest-sepsis-matter
#8
Pia Koivikko, Olli Arola, Outi Inkinen, Minna Tallgren
AIM: Cardiac arrest is not a common complication of sepsis, although sepsis has been recognized as one condition behind cardiac arrest. Our aim was to evaluate the prevalence of sepsis among patients with in-hospital cardiac arrest (IHCA), and to determine if sepsis is associated with inferior outcome after IHCA. METHODS: All consecutive emergency team dispatches in Turku University Hospital in 2011-2014 (n = 607) were reviewed retrospectively to identify the patients undergoing cardiopulmonary resuscitation (CPR) for IHCA (n = 301)...
October 18, 2017: Shock
https://www.readbyqxmd.com/read/29049004/long-term-outcomes-of-transoral-incisionless-fundoplication-in-a-high-risk-pediatric-population
#9
Jason O Robertson, Marcus D Jarboe
INTRODUCTION: Laparoscopic Nissen fundoplication (LNF) is the standard for surgical treatment of gastroesophageal reflux disease (GERD), but postoperative complications and pain are common in patients with severe neurological impairment (NI) and those undergoing reoperative procedures. Transoral incisionless fundoplication (TIF) is an endoscopic alternative to treat GERD. Long-term results in pediatric populations are unknown. METHODS: Eleven patients who underwent TIF between January 2008 and September 2010 were included...
October 19, 2017: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
https://www.readbyqxmd.com/read/29048744/comorbidity-of-alcohol-use-disorder-and-chronic-pain-genetic-influences-on-brain-reward-and-stress-systems
#10
REVIEW
Ellen W Yeung, Jason G Craggs, Ian R Gizer
Alcohol use disorder (AUD) is highly comorbid with chronic pain (CP). Evidence has suggested that neuroadaptive processes characterized by reward deficit and stress surfeit are involved in the development of AUD and pain chronification. Neurological data suggest that shared genetic architecture associated with the reward and stress systems may contribute to the comorbidity of AUD and CP. This monograph first delineates the prevailing theories of the development of AUD and pain chronification focusing on the reward and stress systems...
October 19, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/29045967/-early-surgical-treatment-of-multi-segmet-intramedullary-cervical-spinal-cord-ependymoma
#11
C C Ma, G Z Lin, Z Y Wang
OBJECTIVE: To investigate the early clinical treatment and prognosis of multi-segment intramedullary cervical ependymoma. METHODS: Twenty patients with multi-segment (more than 3 segments) intramedullary spinal ependymoma (McCormic grade I) were microsurgically treated with assistance of intraoperative neuroelectrophysiological monitoring. None of them received postoperative radiotherapy. Preoperatively all the patients underwent MRI examination and their neurologically function was assessed by McCormic classification method...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29044654/animal-models-of-neuroinflammation-secondary-to-acute-insults-originated-outside-the-brain
#12
REVIEW
Mike Yoshio Hamasaki, Marcel Cerqueira César Machado, Fabiano Pinheiro da Silva
The term "neuroinflammation" has been widely used to describe a series of acute or chronic conditions that cause inflammation in the central nervous system (CNS). Neurological damage can be a consequence of direct local injury or, secondary, of systemic or even distant inflammatory processes. In this respect, animal models have been developed to better understand the pathophysiology and, possibly, to evaluate more effective methods of treatment for these disorders. Animal models that promote alterations in blood-brain barrier permeability-the activation of microglia or astrocytes, modifications in neuropeptide expression, oxidative stress, increased apoptosis, release of inflammatory mediators, leukocyte infiltration, and brain edema-are likely to involve neuroinflammation and therefore can serve as useful models for human inflammatory CNS injury...
October 16, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/29044647/epilepsy-and-astrocyte-energy-metabolism
#13
Detlev Boison, Christian Steinhäuser
Epilepsy is a complex neurological syndrome characterized by neuronal hyperexcitability and sudden, synchronized electrical discharges that can manifest as seizures. It is now increasingly recognized that impaired astrocyte function and energy homeostasis play key roles in the pathogenesis of epilepsy. Excessive neuronal discharges can only happen, if adequate energy sources are made available to neurons. Conversely, energy depletion during seizures is an endogenous mechanism of seizure termination. Astrocytes control neuronal energy homeostasis through neurometabolic coupling...
October 17, 2017: Glia
https://www.readbyqxmd.com/read/29044482/hematopoietic-stem-cell-transplantation-for-gaucher-disease
#14
REVIEW
Usha R Somaraju, Krishna Tadepalli
BACKGROUND: Gaucher disease is the most common lysosomal storage disorder caused by a deficiency of the enzyme glucocerebrosidase. Current treatment of the disease involves a choice from enzyme replacement therapy, substrate reduction therapy and hemotopoietic stem cell transplantation (HSCT). HSCT is a high risk procedure with possible long-term benefits in the regression of skeletal and neurological changes in people with Gaucher disease. This is an update of a previously published Cochrane Review...
October 18, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29044349/high-risk-of-brain-tumors-in-farmers-a-mini-review-of-the-literature-and-report-of-the-results-of-a-case-control-study
#15
P Fallahi, R Foddis, A Cristaudo, A Antonelli
Even though a relationship between farmer work and the development of brain tumors was suggest by the scientific literature, a small number of italian studies investigate on the impact of this job on the cancer morbidity of farmer population. The informations about this case-control study were obtained from patients recruited in the Neurosurgical Department of the University-Hospital of Pisa, Italy, from 1990 to 2000. One hundred and seventy-four, newly diagnosed cases of brain tumors (glioma and meningiomas, histologically confirmed), were recruited, such as 522 controls (with other non tumoral neurologic diseases: trauma, etc), by matching cases and controls (1:3), for age (± 5 years) and gender...
September 2017: La Clinica Terapeutica
https://www.readbyqxmd.com/read/29043906/parkinson-s-disease-and-the-quest-for-preclinical-diagnosis-an-interview-with-professor-werner-poewe
#16
Werner Poewe
Werner Poewe speaks to Laura Dormer, Editorial Director: Professor Werner Poewe is Professor of Neurology and Director of the Department of Neurology at Innsbruck Medical University in Innsbruck, Austria. He held a Residency in Clinical Neurology and Psychiatry at the University of Innsbruck, Austria, from 1977 to 1984. From 1984 to 1985 he teamed up with Gerald Stern and Andrew Lees as a British Council Research Fellow at University College and Middlesex Hospital's Medical School in London to perform clinical studies into levodopa-induced dystonia and pharmacokinetics of levodopa in naive versus L-Dopa treated Parkinson's disease...
October 18, 2017: Neurodegenerative Disease Management
https://www.readbyqxmd.com/read/29042332/the-relevance-of-simpson-grade-resectionsin-the-modern-neurosurgical-treatment-of-world-health-organization-grade-1-2-and-3meningiomas
#17
Jeff S Ehresman, Tomas Garzon-Muvdi, Davis Rogers, Michael Lim, Gary L Gallia, Jon Weingart, Henry Brem, Chetan Bettegowda, Kaisorn L Chaichana
OBJECT: The Simpson grading system has played an important role in the surgical resections of meningiomas. This study set out to determine if this grading system predicts meningioma recurrence in a modern cohort of patients with tumors of all World Health Organization (WHO) grades. METHODS: Adult patients who underwent primary, non-biopsy resection of a meningioma at a tertiary care institution between 2007 and 2015 were retrospectively reviewed. Stepwise multivariate proportional hazard analyses were used to identify associations with recurrence following resection...
October 14, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29042299/non-pharmacological-interventions-for-spasticity-in-adults-an-overview-of-systematic-reviews
#18
REVIEW
Fary Khan, Bhasker Amatya, Djamel Bensmail, Alain Yelnik
OBJECTIVES: Spasticity causes significant long-term disability-burden, requiring comprehensive management. This review evaluates evidence from published systematic reviews of clinical trials for effectiveness of non-pharmacological interventions for improved spasticity outcomes. METHODS: Data sources: A literature search was conducted using medical and health science electronic (MEDLINE, EMBASE, CINAHL, PubMed, and the Cochrane Library) databases for published systematic reviews up to 15(th) June 2017...
October 14, 2017: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/29042182/are-endocrine-disrupting-compounds-environmental-risk-factors-for-autism-spectrum-disorder
#19
REVIEW
Amer Moosa, Henry Shu, Tewarit Sarachana, Valerie W Hu
Recent research on the etiology of autism spectrum disorder (ASD) has shifted in part from a singular focus on genetic causes to the involvement of environmental factors and their gene interactions. This shift in focus is a result of the rapidly increasing prevalence of ASD coupled with the incomplete penetrance of this disorder in monozygotic twins. One such area of environmentally focused research is the association of exposures to endocrine disrupting compounds (EDCs) with elevated risk for ASD. EDCs are exogenous chemicals that can alter endogenous hormone activity and homeostasis, thus potentially disrupting the action of sex and other natural hormones at all stages of human development...
October 14, 2017: Hormones and Behavior
https://www.readbyqxmd.com/read/29040883/veno-arterial-extracorporeal-membrane-oxygenation-va-ecmo-for-emergency-cardiac-support
#20
Terri Sun, Andrew Guy, Amandeep Sidhu, Gordon Finlayson, Brian Grunau, Lillian Ding, Saida Harle, Leith Dewar, Richard Cook, Hussein D Kanji
PURPOSE: Veno-arterial extracorporeal membrane oxygenation (VA-ECMO) may provide benefit to patients in refractory cardiac arrest and cardiogenic shock. We aim to summarize our center's 6-year experience with resuscitative VA-ECMO. MATERIALS AND METHODS: A retrospective medical record review (April 2009 to 2015) was performed on consecutive non-cardiotomy patients who were managed with VA-ECMO due to refractory in- or out-of-hospital cardiac (IHCA/OHCA) arrest (E-CPR) or refractory cardiogenic shock (E-CS) with or without preceding cardiac arrest...
October 12, 2017: Journal of Critical Care
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