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161. Spastic paraparesis caused by X-linked adrenoleukodystrophy mimicking vacuolar myelopathy in a human immunodeficiency virus patient: A case report. Full Text available with Trip Pro

Spastic paraparesis caused by X-linked adrenoleukodystrophy mimicking vacuolar myelopathy in a human immunodeficiency virus patient: A case report. Vacuolar myelopathy is one of most common cause of spastic paresis in patients with human immunodeficiency virus (HIV) infection. However, X-linked adrenoleukodystrophy (X-ALD), which is a metabolic disorder caused by impairment of peroxisomal beta-oxidation of very-long-chain fatty acids (VLCFA), also manifests as various neurological

2018 Medicine

162. High incidence of cranial synostosis and Chiari I malformation in children with X-linked hypophosphatemic rickets (XLHR). Full Text available with Trip Pro

High incidence of cranial synostosis and Chiari I malformation in children with X-linked hypophosphatemic rickets (XLHR). X-linked hypophosphatemic rickets (XLHR) represents the most common form of genetic hypophosphatemia and causes rickets and osteomalacia in children because of increased FGF23 secretion and renal phosphate wasting. Even though cranial vault and craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I (...) girls, aged 8.7 ± 3.9 years at time of CT scan, were studied. We found that 59% of XLHR children had a complete or partial fusion of the sagittal suture and 25% of XLHR children showed protrusion of the cerebellar tonsils. A history of dental abscesses was associated with craniosynostosis, and craniosynostosis was associated with abnormal descent of cerebellar tonsils. Only 2 patients showed neurologic symptoms. Four of 44 patients (9%) required neurosurgery. This study highlights that sagittal

2018 Journal of Bone and Mineral Research

163. Bacteriological Link Between Upper and Lower Airways in Cystic Fibrosis and Primary Ciliary Dyskinesia

Bacteriological Link Between Upper and Lower Airways in Cystic Fibrosis and Primary Ciliary Dyskinesia Bacteriological Link Between Upper and Lower Airways in Cystic Fibrosis and Primary Ciliary Dyskinesia - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please (...) remove one or more studies before adding more. Bacteriological Link Between Upper and Lower Airways in Cystic Fibrosis and Primary Ciliary Dyskinesia (BAVASI) The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. of clinical studies and talk to your health care provider before participating. Read our for details. ClinicalTrials.gov Identifier: NCT03494894

2018 Clinical Trials

164. Traumatic Brain Injury and Alzheimer's Disease: The Cerebrovascular Link Full Text available with Trip Pro

Traumatic Brain Injury and Alzheimer's Disease: The Cerebrovascular Link Traumatic brain injury (TBI) and Alzheimer's disease (AD) are devastating neurological disorders, whose complex relationship is not completely understood. Cerebrovascular pathology, a key element in both conditions, could represent a mechanistic link between Aβ/tau deposition after TBI and the development of post concussive syndrome, dementia and chronic traumatic encephalopathy (CTE). In addition to debilitating acute

2018 EBioMedicine

165. Linking late cognitive outcome with glioma surgery location using resection cavity maps Full Text available with Trip Pro

Linking late cognitive outcome with glioma surgery location using resection cavity maps Patients with a diffuse glioma may experience cognitive decline or improvement upon resective surgery. To examine the impact of glioma location, cognitive alteration after glioma surgery was quantified and related to voxel-based resection probability maps. A total of 59 consecutive patients (range 18-67 years of age) who had resective surgery between 2006 and 2011 for a supratentorial nonenhancing diffuse (...) glioma (grade I-III, WHO 2007) were included in this observational cohort study. Standardized neuropsychological examination and MRI were obtained before and after surgery. Intraoperative stimulation mapping guided resections towards neurological functions (language, sensorimotor function, and visual fields). Maps of resected regions were constructed in standard space. These resection cavity maps were compared between patients with and without new cognitive deficits (z-score difference >1.5 SD

2018 Human brain mapping

166. Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2. Full Text available with Trip Pro

Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2. 29936104 2018 11 14 1097-6825 142 4 2018 Oct The Journal of allergy and clinical immunology J. Allergy Clin. Immunol. Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2. 1363-1365.e8 S0091-6749(18)30902-3 10.1016/j.jaci.2018.05.038 Lee Pui Y PY Division of Immunology, Boston Children's Hospital, Boston, Mass; Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital (...) Department of Neurosurgery, Boston Children's Hospital, Boston, Mass. Rivkin Michael J MJ Department of Neurology, Psychiatry and Radiology, Boston Children's Hospital, Boston, Mass. Pai Sung-Yun SY Division of Hematology-Oncology, Boston Children's Hospital, Boston, Mass; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Mass. Lyons Todd T Division of Emergency Medicine, Boston Children's Hospital, Boston, Mass. Sundel Robert P RP Division of Immunology, Boston Children's Hospital

2018 Journal of Allergy and Clinical Immunology

167. Links Between Perception of Temporal Order Judgment and Causality in Schizophrenia

Links Between Perception of Temporal Order Judgment and Causality in Schizophrenia Links Between Perception of Temporal Order Judgment and Causality in Schizophrenia - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before (...) adding more. Links Between Perception of Temporal Order Judgment and Causality in Schizophrenia (TOCAS) The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. of clinical studies and talk to your health care provider before participating. Read our for details. ClinicalTrials.gov Identifier: NCT03432000 Recruitment Status : Recruiting First Posted : February 13

2018 Clinical Trials

168. Is Tau Protein Linked to Mobility Function?

Is Tau Protein Linked to Mobility Function? Is Tau Protein Linked to Mobility Function? - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Is Tau Protein Linked to Mobility Function? (SYNERGY) The safety (...) Forest University Health Sciences Study Details Study Description Go to Brief Summary: This project will provide new data to address an important question linking Alzheimer's disease neuropathology to physical disability. Condition or disease Alzheimer Disease Physical Activity Detailed Description: Impaired mobility is strongly linked to cognitive function and vice versa. Cognitive functions are strongly associated with mobility function, most commonly assessed using gait speed. In the Health ABC

2018 Clinical Trials

169. Suppressor of Cytokine Signaling 3: Emerging Role Linking Central Insulin Resistance and Alzheimer’s Disease Full Text available with Trip Pro

Suppressor of Cytokine Signaling 3: Emerging Role Linking Central Insulin Resistance and Alzheimer’s Disease Currently, the etiology of Alzheimer's disease (AD) is still elusive. Central insulin resistance has been determined to play an important role in the progress of AD. However, the mechanism underlying the development of disrupted insulin signaling pathways in AD is unclear. Suppressor of cytokine signaling 3 (SOCS3) is a member of the SOCS protein family that acts as a negative (...) modulator of insulin signaling in sensitive tissues, such as hepatocytes and adipocytes. However, little is known about its role in neurological diseases. Recent evidence indicates that the level of SOCS3 is increased in the brains of individuals with AD, especially in areas with amyloid beta deposition, suggesting that SOCS3 may regulate the central insulin signaling pathways in AD. Here, we discuss the potential role of SOCS3 in AD and speculate that SOCS3 may be a promising therapeutic target

2018 Frontiers in neuroscience

170. The Electrophysiological Features in X-Linked Charcot-Marie-Tooth Disease With Transient Central Nervous System Deficits Full Text available with Trip Pro

The Electrophysiological Features in X-Linked Charcot-Marie-Tooth Disease With Transient Central Nervous System Deficits Background: Electrophysiological examination plays an important role in the diagnosis of X-linked Charcot-Marie-Tooth disease (CMTX1) with transient central nervous system deficits. However, the electrophysiological features are seldom reported. Methods: We reviewed and analyzed published reports to determine the electrophysiological features of CMTX1 patients with transient (...) %, 25.2 ± 7.75%, and 23.2 ± 3.95%, respectively. Conclusion: This case series serves as a reminder that electrophysiological examination should be included in the diagnosis of recurrent and episodic neurological deficit with white matter lesions. Median MNCV is a sensitive and valuable parameter to support the diagnosis of CMTX1 with transient central nervous system deficits.

2018 Frontiers in neurology

171. Multispecies mass mortality of marine fauna linked to a toxic dinoflagellate bloom. Full Text available with Trip Pro

of animals examined at necropsy. Reports of marine fauna presenting signs of neurological dysfunction were also supportive of exposure to these neurotoxins. The event reported here represents the first well-documented case of multispecies mass mortality of marine fish, birds and mammals linked to a PST-producing algal bloom. (...) Multispecies mass mortality of marine fauna linked to a toxic dinoflagellate bloom. Following heavy precipitation, we observed an intense algal bloom in the St. Lawrence Estuary (SLE) that coincided with an unusually high mortality of several species of marine fish, birds and mammals, including species designated at risk. The algal species was identified as Alexandrium tamarense and was determined to contain a potent mixture of paralytic shellfish toxins (PST). Significant levels of PST were

2017 PLoS ONE

172. The gut microbiome in human neurological disease: A review. Full Text available with Trip Pro

to neurological health to be examined. Emerging evidence links perturbations in the gut microbiota to neurological disease, including disease risk, activity, and progression. This review provides an overview of the recent advances in microbiome research in relation to neuro(auto)immune and neurodegenerative conditions affecting humans, such as multiple sclerosis, neuromyelitis optica spectrum disorders, Parkinson disease, Alzheimer disease, Huntington disease, and amyotrophic lateral sclerosis. Study design (...) The gut microbiome in human neurological disease: A review. Almost half the cells and 1% of the unique genes found in our bodies are human, the rest are from microbes, predominantly bacteria, archaea, fungi, and viruses. These microorganisms collectively form the human microbiota, with most colonizing the gut. Recent technological advances, open access data libraries, and application of high-throughput sequencing have allowed these microbes to be identified and their contribution

2017 Annals of Neurology

173. Establishment of Genetic Basis for Neurological Disease by Genetic Screening

Establishment of Genetic Basis for Neurological Disease by Genetic Screening Establishment of Genetic Basis for Neurological Disease by Genetic Screening - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more (...) . Establishment of Genetic Basis for Neurological Disease by Genetic Screening The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. of clinical studies and talk to your health care provider before participating. Read our for details. ClinicalTrials.gov Identifier: NCT03322306 Recruitment Status : Recruiting First Posted : October 26, 2017 Last Update Posted : January 31

2017 Clinical Trials

174. Impact of Neurological Diseases on the Prognosis of Bullous Pemphigoid: A Retrospective Study of 178 Patients

, 2015 Resource links provided by the National Library of Medicine related topics: resources: Groups and Cohorts Go to Group/Cohort Intervention/treatment group "Bullous pemphigoid" Patients consulting at dermatology department of Reims Teaching Hospital for bullous pemphigoid between 1997 and 2011. Other: Data record Outcome Measures Go to Primary Outcome Measures : neurological disease [ Time Frame: Day 0 ] neurological disease are dementia (Alzheimers disease or other dementia), Parkinson's (...) Impact of Neurological Diseases on the Prognosis of Bullous Pemphigoid: A Retrospective Study of 178 Patients Impact of Neurological Diseases on the Prognosis of Bullous Pemphigoid: A Retrospective Study of 178 Patients - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies

2017 Clinical Trials

175. Chart Review: Central Motor Conduction Time in Neurological Disorders

conduction time (PMCT), the cortical motor evoked potential (MEP) latency and amplitude will be used to calculate CMCT, clinical patient factors pertinent to estimation of CMCT as well clinically significant physical exam findings will be recorded as well. Clinical diagnoses and neurological exams will be extracted from medical records Patient identifiers will be de-linked after compiling data from medical records Outcome measures - Results of CMCT using TMS in different diagnoses will be summarized (...) links provided by the National Library of Medicine related topics: Groups and Cohorts Go to Group/Cohort Chart Review Existing records of patients within the NINDS database who have had TMS performed to measure central motor conduction time (CMCT). Outcome Measures Go to Primary Outcome Measures : Summary of central motor conduction studies in neurological disorders [ Time Frame: Study completion ] Eligibility Criteria Go to Information from the National Library of Medicine Choosing to participate

2017 Clinical Trials

176. Devices for Ambulatory Monitoring of Sleep-Associated Disorders in Children with Neurological Diseases Full Text available with Trip Pro

Devices for Ambulatory Monitoring of Sleep-Associated Disorders in Children with Neurological Diseases Good sleep quality is essential for a child's wellbeing. Early sleep problems have been linked to the later development of emotional and behavioral disorders and can negatively impact the quality of life of the child and his or her family. Sleep-associated conditions are frequent in the pediatric population, and even more so in children with neurological problems. Monitoring devices can help (...) intervention of events like seizures. Optimal monitoring devices will be patient- and diagnosis-specific, but may include a combination of modalities such as ambulatory electroencephalograms, actigraphy, and pulse oximetry. We will summarize the current literature on ambulatory sleep devices for detecting sleep disorders in children with neurological diseases.

2017 Children

177. Neurologic Complications Associated With the Zika Virus in Brazilian Adults. Full Text available with Trip Pro

Neurologic Complications Associated With the Zika Virus in Brazilian Adults. There are no prospective cohort studies assessing the incidence and spectrum of neurologic manifestations secondary to Zika virus (ZIKV) infection in adults.To evaluate the rates of acute ZIKV infection among patients hospitalized with Guillain-Barré syndrome (GBS), meningoencephalitis, or transverse myelitis.A prospective, observational cohort study was conducted at a tertiary referral center for neurological diseases (...) in Rio de Janeiro, Brazil, between December 5, 2015, and May 10, 2016, among consecutive hospitalized adults (>18 years of age) with new-onset acute parainfectious or neuroinflammatory disease. All participants were tested for a series of arbovirosis. Three-month functional outcome was assessed.Samples of serum and cerebrospinal fluid were tested for ZIKV using real-time reverse-transcriptase-polymerase chain reaction and an IgM antibody-capture enzyme-linked immunosorbent assay. Clinical

2017 JAMA neurology

178. Specific Biomarkers Associated With Neurological Complications and Congenital Central Nervous System Abnormalities From Zika Virus-Infected Patients in Brazil. Full Text available with Trip Pro

Specific Biomarkers Associated With Neurological Complications and Congenital Central Nervous System Abnormalities From Zika Virus-Infected Patients in Brazil. Zika virus (ZIKV) infections have been linked to different levels of clinical outcomes, ranging from mild rash and fever to severe neurological complications and congenital malformations.We investigated the clinical and immunological response, focusing on the immune mediators profile in 95 acute ZIKV-infected adult patients from Campinas (...) , Brazil. These patients included 6 pregnant women who later delivered during the course of this study. Clinical observations were recorded during hospitalization. Levels of 45 immune mediators were quantified using multiplex microbead-based immunoassays.Whereas 11.6% of patients had neurological complications, 88.4% displayed mild disease of rash and fever. Several immune mediators were specifically higher in ZIKV-infected patients, and levels of interleukin 10, interferon gamma-induced protein 10 (IP

2017 Journal of Infectious Diseases

179. Zika Virus: An Emerging Infectious Disease with Serious Perinatal and Neurologic Complications. Full Text available with Trip Pro

infection likely has gone undetected, misdiagnosed, or both for many years. ZIKV is somewhat unique among flaviviruses in its ability to also be transmitted through sexual contact, nonsexual body fluids, and perinatally. The relatively recent detection of the link between ZIKV infection and Guillain-Barré syndrome and fetal neurological defects, including microcephaly, has prompted intense efforts aimed at the development of new and specific diagnostic tests. Infection with ZIKV has been postulated (...) Zika Virus: An Emerging Infectious Disease with Serious Perinatal and Neurologic Complications. Zika virus (ZIKV) is a flavivirus that is primarily transmitted by Aedes aegypti, the mosquito vector also important in transmission of the flaviviruses responsible for dengue fever, yellow fever, and chikungunya. Because of occurrence in the same geographic regions, serologic cross-reactivity, and similar but often less severe clinical manifestations, such as dengue and chikungunya infections, ZIKV

2017 Journal of Allergy and Clinical Immunology

180. Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. Full Text available with Trip Pro

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. Although the role of typical Rho GTPases and other Rho-linked proteins in synaptic plasticity and cognitive function and dysfunction is widely acknowledged, the role of atypical Rho GTPases (such as RHOBTB2) in neurodevelopment has barely been characterized. We have now identified de novo missense variants clustering in the BTB-domain-encoding (...) locomotor defects. Knockdown of RhoBTB in the Drosophila dendritic arborization neurons resulted in a decreased number of dendrites, thus suggesting a role of RhoBTB in dendritic development. We have established missense variants in the BTB-domain-encoding region of RHOBTB2 as causative for a developmental and epileptic encephalopathy and have elucidated the role of atypical Rho GTPase RhoBTB in Drosophila neurological function and possibly dendrite development.Copyright © 2017 American Society of Human

2017 American Journal of Human Genetics

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