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https://www.readbyqxmd.com/read/28214652/unilateral-oculomotor-palsy-in-charcot-marie-tooth-disease-1a-cmt-1a
#1
A Posa, A Emmer, M E Kornhuber
BACKGROUND: Charcot-Marie-Tooth disease (CMT) type 1A is the most common form of CMT 1 and one of the autosomal dominant demyelinating hereditary motor and sensory neuropathies (HMSN). Cranial nerves may be frequently subclinically affected in CMT disease. However manifest clinical signs of cranial nerve involvement are rare. METHODS: This case comprise neurological, ophthalmological, internal medicine and ear-nose-throat investigation, motor and sensory nerve conduction velocity, auditory evoked potentials and orbicularis-oculi reflex measurements, lumbar puncture and blood examination, inclusive molecular genetic testing, as well as electrocardiogram and cranial imaging such as computer tomography and magnetic resonance imaging RESULTS: The present case shows a Charcot-Marie-Tooth (CMT) 1A patient with complete unilateral oculomotor palsy in combination with predominant ipsilateral subclinical trigeminal demyelination...
February 13, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28214540/cognitive-performance-of-male-and-female-c57bl-6j-mice-after-repetitive-concussive-brain-injuries
#2
Alexander G Velosky, Laura B Tucker, Amanda H Fu, Jiong Liu, Joseph T McCabe
In contact sports, repetitive concussive brain injury (rCBI) is the prevalent form of head injury seen in athletes. The need for effective treatment is urgent as rCBI has been associated with a host of cognitive, behavioral and neurological complaints. There has been a growing trend in the use of female animals in pre-clinical research, but few studies have investigated possible sex differences following rCBI. The goal of the current study was to determine any differences between male and female C57BL/6J mice on assessments of learning and memory after repetitive concussive injury...
February 15, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28214521/neuroprotective-effect-of-salvianolic-acid-b-against-cerebral-ischemic-injury-in-rats-via-the-cd40-nf-%C3%AE%C2%BAb-pathway-associated-with-suppression-of-platelets-activation-and-neuroinflammation
#3
Shixin Xu, Aiqin Zhong, Huining Ma, Dan Li, Yue Hu, Yingzhi Xu, Junping Zhang
Neuroinflammation plays a critical role in the pathogenesis of ischemia/reperfusion (I/R) injury. Activated platelets are increasingly regarded as initiators and/or amplifiers of inflammatory processes in cerebral I/R injury. Salvianolic acid B (SAB) is the most abundant bioactive compound of Salviae miltiorrhizae, a well-known Chinese herb used to promote blood circulation and eliminating blood stasis. S. miltiorrhizae has been used clinically in Asia for the treatment of ischemic cerebrovascular diseases...
February 15, 2017: Brain Research
https://www.readbyqxmd.com/read/28214332/comparison-of-several-white-matter-tracts-in-feline-and-canine-brain-by-using-magnetic-resonance-diffusion-tensor-imaging
#4
Olivier Jacqmot, Bert Van Thielen, Alex Michotte, Inneke Willekens, Filip Verhelle, Peter Goossens, Filip De Ridder, Jan Pieter Clarys, Anne Vanbinst, Cindy Peleman, Johan de Mey
Recently, we published a first anatomical Diffusion Tensor Imaging (DTI) atlas regarding white matter tracts in the canine brain. The purpose of this study was to show the significance of DTI in the revelation of the white matter fibres in the feline brain (i.e. to obtain an anatomical DTI atlas of images) and to descriptively compare these to previously obtained white matter fibre images of the canine brain. DTI MR Images of 4 cats euthanised for reasons other than neurological disorders were obtained with a 3 T system...
February 18, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28214318/clinical-course-treatment-modalities-and-quality-of-life-in-patients-with-congenital-melanocytic-nevi-data-from-the-german-cmn-registry
#5
Maria Elisabeth Wramp, Anna Langenbruch, Matthias Augustin, Detlef Zillikens, Sven Krengel
BACKGROUND: Congenital melanocytic nevi (CMN) are associated with mental stress as well as medical risks for those affected. The German CMN registry was initiated in 2005. Herein, we present results from an interim analysis focusing on disease course, treatment modalities, and quality of life. PATIENTS AND METHODS: One hundred patients enrolled in the registry between 2005 and 2012 were included in this prospective cohort study, and asked to participate in a follow-up survey...
February 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/28214165/agenesis-of-the-corpus-callosum-and-aicardi-syndrome-a%C3%A2-neuroimaging-and-clinical-comparison
#6
T Govil-Dalela, A Kumar, R Agarwal, H T Chugani
BACKGROUND: Agenesis of the corpus callosum can occur in individuals with epilepsy, either in isolation or as part of various neurological conditions, such as Aicardi syndrome. In this study, we evaluated the clinical and neuroradiological differences between children with nonsyndromic agenesis of the corpus callosum and those with Aicardi syndrome. METHODS: We evaluated 31 children with epilepsy and agenesis of the corpus callosum (11 males, 20 females), 14 of whom had Aicardi syndrome (all females)...
January 4, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28214048/psychosocial-and-behavioral-functioning-and-their-relationship-to-seizure-timing-in-children-with-benign-epilepsy-with-centrotemporal-spikes
#7
Gonca Bektaş, Uğur Tekin, Edibe Pembegül Yıldız, Tuğçe Aksu Uzunhan, Burak Tatlı, Nur Aydınlı, Mine Çalışkan, Meral Özmen
BACKGROUND: Psychosocial and behavioral problems have been reported in children with benign epilepsy with centrotemporal spikes (BECTS). Distinctive features of typical BECTS associated with cognitive and behavioral problems have not clearly been defined. PURPOSE: We aimed to identify psychosocial and behavioral functioning and their relationship to seizure timing in BECTS. METHODS: Consecutive patients with BECTS were recruited from the pediatric neurology outpatient clinic between May 2015 and May 2016...
February 14, 2017: Brain & Development
https://www.readbyqxmd.com/read/28213989/the-post-mortem-examination-in-ruminants-and-its-possible-benefit-to-ruminant-clinical-medicine
#8
K Wäsle, A Pospischil, M Hässig, C Gerspach, M Hilbe
To highlight the important role of post-mortem examination of ruminants and to identify possible benefits for modern ruminant medicine, a comparison of clinical and pathological diagnoses was conducted and influencing factors were identified. For this purpose, results from 2,000 ruminants that had undergone necropsy examination at the University of Zurich, Switzerland, were analysed retrospectively. Both clinical and pathological diagnoses were available for 81.40% of cattle, 80.22% of sheep and 66.66% of goats; no diagnoses were available for 3...
February 14, 2017: Journal of Comparative Pathology
https://www.readbyqxmd.com/read/28213969/highly-efficient-neural-conversion-of-human-pluripotent-stem-cells-in-adherent-and-animal-free-conditions
#9
Dunja Lukovic, Andrea Diez Lloret, Petra Stojkovic, Daniel Rodríguez-Martínez, Maria Amparo Perez Arago, Francisco Javier Rodriguez-Jimenez, Patricia González-Rodríguez, José López-Barneo, Eva Sykova, Pavla Jendelova, Jelena Kostic, Victoria Moreno-Manzano, Miodrag Stojkovic, Shomi S Bhattacharya, Slaven Erceg
Neural differentiation of human embryonic stem cells (hESCs) and induced pluripotent stem cells (hiPSCs) can produce a valuable and robust source of human neural cell subtypes, holding great promise for the study of neurogenesis and development, and for treating neurological diseases. However, current hESCs and hiPSCs neural differentiation protocols require either animal factors or embryoid body formation, which decreases efficiency and yield, and strongly limits medical applications. Here we develop a simple, animal-free protocol for neural conversion of both hESCs and hiPSCs in adherent culture conditions...
February 18, 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28213665/neurologic-manifestations-of-vitamin-b-deficiency-after-bariatric-surgery
#10
Suriya Punchai, Zubaidah Nor Hanipah, Katherine M Meister, Philip R Schauer, Stacy A Brethauer, Ali Aminian
INTRODUCTION: The aim of this study was to assess the incidence, clinical presentation, and outcomes of neurologic disorders secondary to vitamin B deficiencies following bariatric surgery. METHODS: Patients at a single academic institution who underwent bariatric surgery and developed neurologic complications secondary to low levels of vitamins B1, B2, B6, and B12 between the years 2004 and 2015 were studied. RESULTS: In total, 47 (0.7%) bariatric surgical patients (Roux-en-Y gastric bypass n = 36, sleeve gastrectomy n = 9, and duodenal switch n = 2) developed neurologic manifestations secondary to vitamin B deficiencies...
February 17, 2017: Obesity Surgery
https://www.readbyqxmd.com/read/28213155/high-frequency-stimulation-of-afferent-fibers-generates-asynchronous-firing-in-the-downstream-neurons-in-hippocampus-through-partial-block-of-axonal-conduction
#11
Zhouyan Feng, Zhaoxiang Wang, Zheshan Guo, Wenjie Zhou, Ziyan Cai, Dominique M Durand
Deep brain stimulation (DBS) is effective for treating neurological disorders in clinic. However, the therapeutic mechanisms of high-frequency stimulation (HFS) of DBS have not yet been elucidated. Previous studies have suggested that HFS-induced changes in axon conduction could have important contributions to the DBS effects and desiderate further studies. To investigate the effects of prolonged HFS of afferent axons on the firing of downstream neurons, HFS trains of 100 and 200 Hz were applied on the Schaffer collaterals of the hippocampal CA1 region in anaesthetized rats...
February 14, 2017: Brain Research
https://www.readbyqxmd.com/read/28212985/nonsteroidal-anti-inflammatory-drugs-in-clinical-and-experimental-epilepsy
#12
REVIEW
Beatrice Mihaela Radu, Florin Bogdan Epureanu, Mihai Radu, Paolo Francesco Fabene, Giuseppe Bertini
Current antiepileptic drugs have limited efficacy and provide little or no benefits in 30% of the patients. Given that a role for brain inflammation in epilepsy has been repeatedly reported in recent years, the potential of anti-inflammatory drugs should be explored in depth, as they may provide new therapeutical approaches in preventing or reducing epileptogenesis. Here, we review preclinical (both in vivo and in vitro) and clinical epilepsy studies in which nonsteroidal antiinflammatory drugs (NSAIDs), i...
February 9, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28212920/neonatal-lupus-follow-up-in-infants-with-anti-ssa-ro-antibodies-and-review-of-the-literature
#13
REVIEW
Antonio Alberto Zuppa, Riccardo Riccardi, Simonetta Frezza, Francesca Gallini, Rita Maria Paola Luciano, Giovanni Alighieri, Costantino Romagnoli, Sara De Carolis
Neonatal Lupus Syndrome (NLS) is a distinct clinical entity caused by transplacental passage of maternal anti-SSA/Ro antibodies (Ab). Mothers may have systemic lupus erythematosus, Sjögren syndrome, or other connective tissue disease, or may be completely healthy at the time of giving birth. NLS includes several clinical manifestations: complete congenital heart block (CCHB) and cutaneous lupus are the most common, while hepatobiliary disease, hematological manifestations and central nervous system involvement may occur...
February 14, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28212689/sleep-complaints-and-sleep-architecture-in-children-with-idiopathic-central-sleep-apnea
#14
Neepa Gurbani, Stijn L Verhulst, Chee Tan, Narong Simakajornboon
STUDY OBJECTIVES: Idiopathic central sleep apnea (ICSA) is categorized as a type of nonhypercapnic central sleep apnea (CSA). Recurrent cessation and resumption of respiration leads to sleep fragmentation, which causes excessive daytime sleepiness, frequent nocturnal awakenings, or both. ICSA has been described in the adult population but there is limited information in children. The purpose of this study was to describe clinical manifestations and polysomnographic findings in children with ICSA...
April 14, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/28212663/isolation-of-primary-microglia-from-the-human-post-mortem-brain-effects-of-ante-and-post-mortem-variables
#15
Mark R Mizee, Suzanne S M Miedema, Marlijn van der Poel, Adelia, Karianne G Schuurman, Miriam E van Strien, Jeroen Melief, Joost Smolders, Debbie A Hendrickx, Kirstin M Heutinck, Jörg Hamann, Inge Huitinga
Microglia are key players in the central nervous system in health and disease. Much pioneering research on microglia function has been carried out in vivo with the use of genetic animal models. However, to fully understand the role of microglia in neurological and psychiatric disorders, it is crucial to study primary human microglia from brain donors. We have developed a rapid procedure for the isolation of pure human microglia from autopsy tissue using density gradient centrifugation followed by CD11b-specific cell selection...
February 17, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28212620/clinical-manifestations-of-severe-enterovirus-71-infection-and-early-assessment-in-a-southern-china-population
#16
Si-da Yang, Pei-Qing Li, Yi-Min Li, Wei Li, Wen-Ying Lai, Cui-Ping Zhu, Jian-Ping Tao, Li Deng, Hong-Sheng Liu, Wen-Cheng Ma, Jia-Ming Lu, Yan Hong, Yu-Ting Liang, Jun Shen, Dan-Dan Hu, Yuan-Yuan Gao, Yi Zhou, Min-Xiong Situ, Yan-Ling Chen
BACKGROUND: Enterovirus 71 (EV-A71) shows a potential of rapid death, but the natural history of the infection is poorly known. This study aimed to examine the natural history of EV-A71 infection. METHODS: This was a prospective longitudinal observational study performed between January 1(st) and October 31(st), 2012, at three hospitals in Guangdong, China. Subjects with positive EV-A71 RNA laboratory test results were included. Disease progression was documented with MRI, autopsies, and follow-up...
February 17, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28212618/clinical-features-and-outcome-in-patients-with-osseomuscular-type-of-wilson-s-disease
#17
Hao Yu, Juan-Juan Xie, Yu-Chao Chen, Qin-Yun Dong, Yi Dong, Wang Ni, Zhi-Ying Wu
BACKGROUND: Wilson's disease with osseomuscular type is a rare condition, which often lacks typical hepatic and neurological symptoms and causes misdiagnoses easily. During the past 10 years, eight Chinese patients of osseomuscular type of Wilson's disease were identified in our clinic. METHODS: Clinical information was gathered from medical records and follow-ups. The genetic testing was performed in each patient. Serum ceruloplasmin, Kayser-Fleischer rings, liver function, brain magnetic resonance imaging and abdominal ultrasonography were also evaluated...
February 17, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28212307/antiretroviral-treatment-in-hiv-1-positive-mothers-neurological-implications-in-virus-free-children
#18
REVIEW
Antonio Victor Campos Coelho, Paola Maura Tricarico, Fulvio Celsi, Sergio Crovella
Since the worldwide introduction of antiretroviral therapy (ART) in human immunodeficiency virus type 1, HIV-1-positive mothers, together with HIV-1 testing prior to pregnancy, caesarian birth and breastfeeding cessation with replacement feeding, a reduction of HIV-1 mother-to-child transmission (MTCT) has been observed in the last few years. As such, an increasing number of children are being exposed in utero to ART. Several questions have arisen concerning the neurological effects of ART exposure in utero, considering the potential effect of antiretroviral drugs on the central nervous system, a structure which is in continuous development in the fetus and characterized by great plasticity...
February 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28212120/neurogenic-voiding-dysfunction
#19
Petros Georgopoulos, Apostolos Apostolidis
PURPOSE OF REVIEW: This review aims to analyze and discuss all recently published articles associated with neurogenic voiding discussion providing readers with the most updated knowledge and trigger for further research. RECENT FINDINGS: They include the proposal of a novel classification system for the pathophysiology of neurogenic lower urinary tract dysfunction (NLUTD) which combines neurological defect in a distinct anatomic location, and data on bowel dysfunction, autonomic dysreflexia and urine biomarkers; review of patient-reported outcome measures in NLUTD; review of the criteria for the diagnosis of clinically significant urinary infections; novel research findings on the pathophysiology of NLUTD; and review of data on minimally and more invasive treatments...
February 16, 2017: Current Opinion in Urology
https://www.readbyqxmd.com/read/28211990/homozygous-mutation-in-prune1-in-an-oji-cree-male-with-a-complex-neurological-phenotype
#20
Gregory Costain, Andrea Shugar, Pradeep Krishnan, Saadet Mahmutoglu, Suzanne Laughlin, Peter Kannu
The PRUNE1 gene encodes a member of the phosphoesterases (DHH) protein superfamily that is highly expressed in the human fetal brain and involved in the regulation of cell migration. Homozygous or compound heterozygous PRUNE1 mutations were recently identified in five individuals with brain malformations from four families. We present a case of a 2-year-old male with a complex neurological phenotype and abnormalities on brain MRI. Re-annotation of clinical whole-exome sequencing data revealed a homozygous likely pathogenic variant in PRUNE1 (c...
March 2017: American Journal of Medical Genetics. Part A
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