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https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#1
MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, Mohammad Yahya Vahidi Mehrjardi, Afsaneh Sahebalzamani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Atiyeh Eslahi, Najmeh Ahangari, Seyed Mojtaba Yassini, Afsaneh Hassanbeigi, Azam Rasti, Seyed Mehdi Kalantar, Reza Maroofian
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. METHODS: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families...
July 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28719802/cerebral-hypoperfusion-is-not-associated-with-an-increase-in-%C3%AE-amyloid-pathology-in-middle-aged-or-elderly-people
#2
O Hansson, S Palmqvist, H Ljung, T Cronberg, D van Westen, R Smith
INTRODUCTION: It is hypothesized that cerebral hypoperfusion promotes the development of Alzheimer pathology. We therefore studied whether longstanding cerebral hypoperfusion is associated with Alzheimer pathology in nondemented humans. METHODS: Cerebral blood flow and β-amyloid ((18)F-Flutemetamol) positron emission tomography retention were assessed in eleven patients with unilateral occlusion of precerebral arteries resulting in chronic and uneven hypoperfusion...
July 15, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/28719733/characterizing-a-mouse-model-for-evaluation-of-countermeasures-against-hydrogen-sulfide-induced-neurotoxicity-and-neurological-sequelae
#3
Poojya Anantharam, Elizabeth M Whitley, Belinda Mahama, Dong-Suk Kim, Paula M Imerman, Dahai Shao, Monica R Langley, Arthi Kanthasamy, Wilson K Rumbeiha
Hydrogen sulfide (H2 S) is a highly neurotoxic gas. It is the second most common cause of gas-induced deaths. Beyond mortality, surviving victims of acute exposure may suffer long-term neurological sequelae. There is a need to develop countermeasures against H2 S poisoning. However, no translational animal model of H2 S-induced neurological sequelae exists. Here, we describe a novel mouse model of H2 S-induced neurotoxicity for translational research. In paradigm I, C57/BL6 mice were exposed to 765 ppm H2 S for 40 min on day 1, followed by 15-min daily exposures for periods ranging from 1 to 6 days...
July 18, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28719406/toward-a-biopsychosocial-ecology-of-the-human-microbiome-brain-gut-axis-and-health
#4
Karl J Maier, Mustafa al'Absi
OBJECTIVE: Rapidly expanding insights to the human microbiome and health suggest that Western medicine is poised for significant evolution, or perhaps revolution - this while the field continues on a trajectory from reductionism to a biopsychosocial (BPS) paradigm recognizing biological, psychological, and social influences on health. The apparent sensitivity of the microbiota to perturbations across BPS domains suggests that a broad and inclusive framework is needed to develop applicable knowledge in this area...
July 18, 2017: Psychosomatic Medicine
https://www.readbyqxmd.com/read/28719330/case-report-microcephaly-in-twins-due-to-the-zika-virus
#5
Victor S Santos, Sheila J G Oliveira, Ricardo Q Gurgel, Dorothy R R Lima, Cliomar A Dos Santos, Paulo R S Martins-Filho
Recent studies have demonstrated an association between congenital Zika virus (ZIKV) infection and microcephaly; however, to date, there have been no reports on the consequences of ZIKV infection on fetuses in twin pregnancies. Herein, we reported on the first case of a monochorionic diamniotic (MCDA) twin pregnancy having ZIKV-related microcephaly. Our findings suggested that, in an MCDA twin pregnancy, the ZIKV may cause infection in both fetuses, resulting in severe abnormalities in the central nervous system due to neural cell destruction and the disruption of the normal development processes of the brain...
July 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28719141/neonatal-infection-produces-significant-changes-in-immune-function-with-no-associated-learning-deficits-in-juvenile-rats
#6
Brittany F Osborne, Jasmine I Caulfield, Samantha A Solomotis, Jaclyn M Schwarz
The current experiments examined the impact of early-life immune activation and a subsequent mild immune challenge with lipopolysaccharide (LPS; 25µg/kg) on hippocampal-dependent learning, proinflammatory cytokine expression in the brain, and peripheral immune function in juvenile male and female rats at P24, an age when hippocampal-dependent learning and memory first emerges. Our results indicate that neonatal infection did not produce learning deficits in the hippocampal-dependent context pre-exposure facilitation effect (CPFE) paradigm in juvenile males and females, contrary to what has been observed in adults...
July 18, 2017: Developmental Neurobiology
https://www.readbyqxmd.com/read/28719087/mri-guided-stereotactic-neurosurgical-procedures-in-a-diagnostic-mri-suite-background-and-safe-practice-recommendations
#7
Paul S Larson, Jon T Willie, Sudhakar Vadivelu, Hooman Azmi-Ghadimi, Amy Nichols, Loretta Litz Fauerbach, Helen Boehm Johnson, Denise Graham
The development of navigation technology facilitating MRI-guided stereotactic neurosurgery has enabled neurosurgeons to perform a variety of procedures ranging from deep brain stimulation to laser ablation entirely within an intraoperative or diagnostic MRI suite while having real-time visualization of brain anatomy. Prior to this technology, some of these procedures required multisite workflow patterns that presented significant risk to the patient during transport. For those facilities with access to this technology, safe practice guidelines exist only for procedures performed within an intraoperative MRI...
July 2017: Journal of Healthcare Risk Management: the Journal of the American Society for Healthcare Risk Management
https://www.readbyqxmd.com/read/28719076/multimodal-image-analysis-of-clinical-influences-on-preterm-brain-development
#8
Gareth Ball, Paul Aljabar, Phumza Nongena, Nigel Kennea, Nuria Gonzalez-Cinca, Shona Falconer, Andrew T M Chew, Nicholas Harper, Julia Wurie, Mary A Rutherford, Serena J Counsell, A David Edwards
Objective Premature birth is associated with numerous complex abnormalities of white and grey matter and a high incidence of long-term neurocognitive impairment. An integrated understanding of these abnormalities and their association with clinical events is lacking. The aim of this study was to identify specific patterns of abnormal cerebral development and their antenatal and postnatal antecedents. Methods In a prospective cohort of 449 infants (226 male), we performed a multi-variate and data-driven analysis combining multiple imaging modalities...
July 18, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28718779/a-review-and-experimental-study-on-application-of-classifiers-and-evolutionary-algorithms-in-eeg-based-brain-machine-interface-systems
#9
Farajollah Tahernezhad-Javazm, Vahid Azimirad, Maryam Shoaran
OBJECTIVE: Considering the importance and the near future development of noninvasive Brain-Machine Interface (BMI) systems, this paper presents a comprehensive theoretical-experimental survey on the classification and evolutionary methods for BMI-based systems in which EEG signals are used. APPROACH: The paper is divided into two main parts. In the first part a wide range of different types of the base and combinatorial classifiers including boosting and bagging classifiers and also evolutionary algorithms are reviewed and investigated...
July 18, 2017: Journal of Neural Engineering
https://www.readbyqxmd.com/read/28718448/neuronal-activity-in-ontogeny-and-oncology
#10
REVIEW
Humsa Venkatesh, Michelle Monje
The nervous system plays a central role in regulating the stem cell niche in many organs, and thereby pivotally modulates development, homeostasis, and plasticity. A similarly powerful role for neural regulation of the cancer microenvironment is emerging. Neurons promote the growth of cancers of the brain, skin, prostate, pancreas, and stomach. Parallel mechanisms shared in development and cancer suggest that neural modulation of the tumor microenvironment may prove a universal theme, although the mechanistic details of such modulation remain to be discovered for many malignancies...
February 2017: Trends in Cancer
https://www.readbyqxmd.com/read/28718447/prostaglandin-e2-signaling-alternative-target-for-glioblastoma
#11
Jianxiong Jiang, Jiange Qiu, Qianqian Li, Zhi Shi
Elevated cyclooxygenase-2 (COX-2) and the associated inflammation within the brain contribute to glioblastoma development. However, medical use of COX inhibitors in glioblastoma treatment has been limited due to their well-documented vascular toxicity and inconsistent outcomes from recent human studies. Prostaglandin E2 (PGE2) has emerged as a principal mediator for COX-2 cascade-driven gliomagenesis. Are PGE2 terminal synthases and receptors feasible therapeutic targets for glioblastoma?
February 2017: Trends in Cancer
https://www.readbyqxmd.com/read/28718326/cns-anticancer-drug-discovery-and-development-2016-conference-insights
#12
Victor A Levin, Lauren E Abrey, Timothy P Heffron, Peter J Tonge, Arvin C Dar, William A Weiss, James M Gallo
CNS Anticancer Drug Discovery and Development November 2016, AZ, USA The 2016 second CNS Anticancer Drug Discovery and Development Conference addressed diverse viewpoints about why new drug discovery/development focused on CNS cancers has been sorely lacking. Despite more than 70,000 individuals in the USA being diagnosed with a primary brain malignancy and 151,669-286,486 suffering from metastatic CNS cancer, in 1999, temozolomide was the last drug approved by the US FDA as an anticancer agent for high-grade gliomas...
July 18, 2017: CNS Oncology
https://www.readbyqxmd.com/read/28718312/gbm-skin-metastasis-a-case-report-and-review-of-the-literature
#13
Gary D Lewis, Andreana L Rivera, Ivo W Tremont-Lukats, Leomar Y Ballester-Fuentes, Yi Jonathan Zhang, Bin S Teh
Glioblastoma (GBM) is the most common type of malignant tumor found in the brain, and acts very aggressively by quickly and diffusely infiltrating the surrounding brain parenchyma. Despite its aggressive nature, GBM is rarely found to spread extracranially and develop distant metastases. The most common sites of these rare metastases are the lungs, pleura and cervical lymph nodes. There are also a few case reports of skin metastasis. We present the clinical, imaging and pathologic features of a case of a GBM with metastasis to the soft tissue scar and skin near the original craniotomy site...
July 18, 2017: CNS Oncology
https://www.readbyqxmd.com/read/28718304/the-role-of-surgery-in-low-grade-gliomas-do-timing-and-extent-of-resection-matter
#14
Hugues Duffau
Hugues Duffau is a Professor and Chairman of the Neurosurgery Department in the Montpellier University Medical Center and Head of the INSERM 1051 Team "plasticity of the central nervous system, human stem cells and glial tumors" at the Institute for Neurosciences of Montpellier (France). He is an expert in the awake cognitive neurosurgery of slow-growing brain tumors, such as low-grade gliomas, a routine which he has developed since 20 years. His fundamental approach is centered on the concepts of the brain connectomics and neuroplasticity, breaking with the traditional localizationist view of cerebral processing...
July 18, 2017: CNS Oncology
https://www.readbyqxmd.com/read/28718187/brain-natriuretic-propeptide-as-an-early-marker-of-bronchopulmonary-dysplasia-or-death-in-the-preterm-newborn
#15
Alicia Montaner, Raquel Pinillos, Zenaida Galve, Hector Boix, Carmen Ruiz de la Cuesta, Lorenzo Jimenez, Pilar Samper, Segundo Rite
Aim To investigate whether increased brain natriuretic propeptide (NT-proBNP) levels at 48 to 72 h of life are associated with the development of bronchopulmonary dysplasia (BPD) or death in premature neonates. Methods A retrospective study was performed in neonates born before 32 weeks' gestation or with birth weight below 1500 grams, in whom NT-proBNP determination and echocardiography were performed at 48 to 72 h of life. Associations between NT-proBNP levels and the combined outcome BPD or death were analyzed using multivariate logistic regression analysis...
July 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/28717667/haploinsufficiency-of-bcl11a-associated-with-cerebellar-abnormalities-in-2p15p16-1-deletion-syndrome
#16
Hiroko Shimbo, Takayuki Yokoi, Noriko Aida, Seiji Mizuno, Hiroshi Suzumura, Junichi Nagai, Kazumi Ida, Yumi Enomoto, Chihiro Hatano, Kenji Kurosawa
BACKGROUND: Chromosome 2p15p16.1 deletion syndrome is a rare genetic disorder characterized by intellectual disability (ID), neurodevelopmental delay, language delay, growth retardation, microcephaly, structural brain abnormalities, and dysmorphic features. More than 30 patients with 2p15p16.1 microdeletion syndrome have been reported in the literature. METHODS: Molecular analysis was performed using microarray-based comparative genomic hybridization (array CGH)...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28717517/knowledge-mapping-visualization-analysis-of-the-military-health-and-medicine-papers-published-in-the-web-of-science-over-the-past-10%C3%A2-years
#17
Xuan-Ming Zhang, Xuan Zhang, Xu Luo, Hai-Tao Guo, Li-Qun Zhang, Ji-Wei Guo
BACKGROUND: Military medicine is a research field that seeks to solve the medical problems that occur in modern war conditions based on public medicine theory. METHODS: We explore the main research topics of military health and medical research in the web of science™ core collection (WoSCC) from 2007 to 2016, and the goal of this work is to serve as a reference for orientation and development in military health and medicine. Based on CiteSpace III, a reference co-citation analysis is performed for 7921 papers published in the WoSCC from 2007 to 2016...
2017: Military Medical Research
https://www.readbyqxmd.com/read/28717415/chronic-antiepileptic-drug-use-and-functional-network-efficiency-a-functional-magnetic-resonance-imaging-study
#18
Tamar M van Veenendaal, Dominique M IJff, Albert P Aldenkamp, Richard H C Lazeron, Paul A M Hofman, Anton J A de Louw, Walter H Backes, Jacobus F A Jansen
AIM: To increase our insight in the neuronal mechanisms underlying cognitive side-effects of antiepileptic drug (AED) treatment. METHODS: The relation between functional magnetic resonance-acquired brain network measures, AED use, and cognitive function was investigated. Three groups of patients with epilepsy with a different risk profile for developing cognitive side effects were included: A "low risk" category (lamotrigine or levetiracetam, n = 16), an "intermediate risk" category (carbamazepine, oxcarbazepine, phenytoin, or valproate, n = 34) and a "high risk" category (topiramate, n = 5)...
June 28, 2017: World Journal of Radiology
https://www.readbyqxmd.com/read/28717391/transcriptional-mechanisms-underlying-life-history-responses-to-climate-change-in-the-three-spined-stickleback
#19
Sin-Yeon Kim, Maria M Costa, Anna Esteve-Codina, Alberto Velando
Phenotypic plasticity, the ability of an organism to express different phenotypes depending on the environment, provides an important mechanism by which an animal population can persist under rapid climate change. We experimentally tested both life-history and transcriptional responses of an ecological model species, the three-spined stickleback, to warm acclimation at the southern edge of its European range. We explored cross-environment genetic correlations of key life-history traits in male sticklebacks exposed to long-term temperature changes to examine whether the plasticity pattern was variable among genotypes by using a character-state approach...
August 2017: Evolutionary Applications
https://www.readbyqxmd.com/read/28717351/serial-sampling-of-serum-protein-biomarkers-for-monitoring-human-traumatic-brain-injury-dynamics-a-systematic-review
#20
REVIEW
Eric Peter Thelin, Frederick Adam Zeiler, Ari Ercole, Stefania Mondello, András Büki, Bo-Michael Bellander, Adel Helmy, David K Menon, David W Nelson
BACKGROUND: The proteins S100B, neuron-specific enolase (NSE), glial fibrillary acidic protein (GFAP), ubiquitin carboxy-terminal hydrolase L1 (UCH-L1), and neurofilament light (NF-L) have been serially sampled in serum of patients suffering from traumatic brain injury (TBI) in order to assess injury severity and tissue fate. We review the current literature of serum level dynamics of these proteins following TBI and used the term "effective half-life" (t1/2) in order to describe the "fall" rate in serum...
2017: Frontiers in Neurology
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