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Functional neurological

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https://www.readbyqxmd.com/read/28346496/overlapping-setbp1-gain-of-function-mutations-in-schinzel-giedion-syndrome-and-hematologic-malignancies
#1
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this hotspot disrupt a degron, a signal for the regulation of protein degradation, and lead to the accumulation of SETBP1 protein. Overlapping SETBP1 hotspot mutations have been observed recurrently as somatic events in leukemia. We collected clinical information of 47 SGS patients (including 26 novel cases) with germline SETBP1 mutations and of four individuals with a milder phenotype caused by de novo germline mutations adjacent to the SETBP1 hotspot...
March 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28346471/effect-of-functional-sympathetic-nervous-system-impairment-of-the-liver-and-abdominal-visceral-adipose-tissue-on-circulating-triglyceride-rich-lipoproteins
#2
Michael F La Fountaine, Christopher M Cirnigliaro, Steven C Kirshblum, Cristin McKenna, William A Bauman
BACKGROUND: Interruption of sympathetic innervation to the liver and visceral adipose tissue (VAT) in animal models has been reported to reduce VAT lipolysis and hepatic secretion of very low density lipoprotein (VLDL) and concentrations of triglyceride-rich lipoprotein particles. Whether functional impairment of sympathetic nervous system (SNS) innervation to tissues of the abdominal cavity reduce circulating concentrations of triglyceride (TG) and VLDL particles (VLDL-P) was tested in men with spinal cord injury (SCI)...
2017: PloS One
https://www.readbyqxmd.com/read/28346348/vitamin-d-in-chronic-kidney-disease-and-dialysis-patients
#3
REVIEW
Guillaume Jean, Jean Claude Souberbielle, Charles Chazot
Vitamin D deficiency (<20 ng/mL) and insufficiency (20-29 ng/mL) are common among patients with chronic kidney disease (CKD) or undergoing dialysis. In addition to nutritional and sunlight exposure deficits, factors that affect vitamin D deficiency include race, sex, age, obesity and impaired vitamin D synthesis and metabolism. Serum 1,25(OH)₂D levels also decrease progressively because of 25(OH)D deficiency, together with impaired availability of 25(OH)D by renal proximal tubular cells, high fibroblast growth factor (FGF)-23 and decreased functional renal tissue...
March 25, 2017: Nutrients
https://www.readbyqxmd.com/read/28346232/the-future-is-now-neuroprotection-during-cardiopulmonary-resuscitation
#4
Johanna C Moore, Jason A Bartos, Timothy R Matsuura, Demetris Yannopoulos
PURPOSE OF REVIEW: Survival with favorable neurological function after cardiac arrest remains low. The purpose of this review is to identify recent advances that focus on neuroprotection during cardiopulmonary resuscitation (CPR). RECENT FINDINGS: Multiple strategies have been shown to enhance neuroprotection during CPR. Brain perfusion during CPR is increased with therapies such as active compression decompression CPR and intrathoracic pressure regulation that improve cardiac preload and decrease intracranial pressure...
March 24, 2017: Current Opinion in Critical Care
https://www.readbyqxmd.com/read/28346054/genomic-regions-in-local-endangered-sheep-encode-potentially-favorable-genes
#5
Bianca Moioli, Roberto Steri, Gennaro Catillo
The economic evaluation of farm animal genetic resources plays a key role in developing conservation programs. However, to date, the link between diversity as assessed by neutral genetic markers and the functional diversity is not yet understood. Two genome-wide comparisons, using over 44,000 Single Nucleotide Polymorphisms, identified the markers with the highest difference in allele frequency between the Alpago endangered breed and two clusters, composed of four specialized dairy sheep, and four meat breeds respectively...
March 27, 2017: Animal Biotechnology
https://www.readbyqxmd.com/read/28345734/-restless-legs-syndrome-in-patients-diagnosed-with-attention-deficit-hyperactivity-disorder
#6
C Castano-De la Mota, N Moreno-Acero, R Losada-Del Pozo, V Soto-Insuga, A Perez-Villena, C Rodriguez-Fernandez, F Martin-Del Valle, M Pons-Rodriguez
INTRODUCTION: Restless legs syndrome (RLS) is a common neurological disease. RLS has been linked to various psychiatric disorders, especially with attention deficit hyperactivity disorder (ADHD). AIMS: The main objective was to describe the frequency of RLS in pediatric patients diagnosed with ADHD. Secondary objectives of the study were describe other sleep disorders in ADHD patients. PATIENTS AND METHODS: A multicentre prospective study was conducted in nine Spanish centers...
April 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28345587/derivation-of-functional-human-astrocytes-from-cerebral-organoids
#7
Rômulo Sperduto Dezonne, Rafaela Costa Sartore, Juliana Minardi Nascimento, Verônica M Saia-Cereda, Luciana Ferreira Romão, Soniza Vieira Alves-Leon, Jorge Marcondes de Souza, Daniel Martins-de-Souza, Stevens Kastrup Rehen, Flávia Carvalho Alcantara Gomes
Astrocytes play a critical role in the development and homeostasis of the central nervous system (CNS). Astrocyte dysfunction results in several neurological and degenerative diseases. However, a major challenge to our understanding of astrocyte physiology and pathology is the restriction of studies to animal models, human post-mortem brain tissues, or samples obtained from invasive surgical procedures. Here, we report a protocol to generate human functional astrocytes from cerebral organoids derived from human pluripotent stem cells...
March 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28345373/infarct-topography-and-functional-outcomes
#8
Mark R Etherton, Natalia S Rost, Ona Wu
Acute ischemic stroke represents a major cause of long-term adult disability. Accurate prognostication of post-stroke functional outcomes is invaluable in guiding patient care, targeting early rehabilitation efforts, selecting patients for clinical research, and conveying realistic expectations to families. The involvement of specific brain regions by acute ischemia can alter post-stroke recovery potential. Understanding the influences of infarct topography on neurologic outcomes holds significant promise in prognosis of functional recovery...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28345017/proof-of-concept-demonstration-of-optimal-composite-mri-endpoints-for-clinical-trials
#9
Steven D Edland, M Colin Ard, Jaiashre Sridhar, Derin Cobia, Adam Martersteck, M Marsel Mesulam, Emily J Rogalski
BACKGROUND: Atrophy measures derived from structural MRI are promising outcome measures for early phase clinical trials, especially for rare diseases such as primary progressive aphasia (PPA), where the small available subject pool limits our ability to perform meaningfully powered trials with traditional cognitive and functional outcome measures. METHODS: We investigated a composite atrophy index in 26 PPA participants with longitudinal MRIs separated by two years...
September 2016: Alzheimer's & Dementia: Translational Research & Clinical Interventions
https://www.readbyqxmd.com/read/28343438/hsa-mir-27b-is-up-regulated-in-cytomegalovirus-infected-human-glioma-cells-targets-engrailed-2-and-inhibits-its-expression
#10
Linqian Wang, Ming Yang, Shijing Liao, Wei Liu, Gan Dai, Guojun Wu, Liyu Chen
Human cytomegalovirus (HCMV) dormant infection can alter the expression of the hosts' microRNAs (miRNAs) and impact on the regulation of target genes. To investigate the differentially expressed miRNAs induced by HCMV in human glioma U251 cells, a comprehensive miRNA screen was performed. As a result, 19 up-regulated and 14 down-regulated miRNAs were determined. Of these, hsa-miR-27b (miR-27b) attracted our attention. MiR-27b levels in U251 cells increased 7.70-fold, 8.64-fold, and 4.78-fold, respectively, post 24 h, 48 h, and 72 h HCMV infection, compared to those in the mimic-infected cells, and this up-regulation was further confirmed by quantitative RT-PCR...
January 1, 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28343319/robotic-resection-of-an-obturator-schwannoma-with-preservation-of-normal-nerve-fascicles-and-function
#11
Hubert Perrin, Philippe Brunner, Jean Claude Ortega, Bertrand Mercier, Nathalie Clement, Christophe Robino, Maurice Chazal
An asymptomatic pelvic tumor was incidentally found in a 27-year-old man. A CT-guided needle biopsy with a pathologic examination confirmed the diagnosis of a benign schwannoma. We describe the complete robotic resection with the conservation of normal fascicles. The postoperative course was uneventful. No neurological deficit occurred, and the electromyogram was normal 6 weeks and 7 months later.
March 25, 2017: Journal of Robotic Surgery
https://www.readbyqxmd.com/read/28343295/identification-of-sphingosine-1-phosphate-receptor-subtype-1-s1p1-as-a-pathogenic-factor-in-transient-focal-cerebral-ischemia
#12
Bhakta Prasad Gaire, Chi-Ho Lee, Arjun Sapkota, Sang Yeul Lee, Jerold Chun, Hee Jun Cho, Tae-Gyu Nam, Ji Woong Choi
Medically relevant roles of receptor-mediated sphingosine 1-phosphate (S1P) signaling have become a successful or promising target for multiple sclerosis or cerebral ischemia. Animal-based proof-of-concept validation for the latter is particularly through the neuroprotective efficacy of FTY720, a non-selective S1P receptor modulator, presumably via activation of S1P1. In spite of a clear link between S1P signaling and cerebral ischemia, it remains unknown whether the role of S1P1 is pathogenic or neuroprotective...
March 25, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28343240/childhood-angular-kyphosis-a-plea-for-involvement-of-the-pediatric-neurosurgeon
#13
E Cornips, S Koudijs, J Vles, L van Rhijn
INTRODUCTION: Childhood angular kyphosis is rare, as most children are affected by a mixed kyphotic and scoliotic deformity. Published series involving a mix of kyphosis and kyphoscoliosis, pediatric and adult, congenital and acquired cases are almost exclusively authored by orthopedic surgeons, suggesting that (pediatric) neurosurgeons are not involved. CASE SERIES: We present five cases that illustrate the spectrum of angular kyphosis, and these were treated by a multidisciplinary team including child neurologist, orthopedic surgeon, and pediatric neurosurgeon as complementary partners...
March 25, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28343223/sildenafil-enhances-quantity-of-immature-neurons-and-promotes-functional-recovery-in-the-developing-ischemic-mouse-brain
#14
Jonas Engels, Natalie Elting, Lisa Braun, Ivo Bendix, Josephine Herz, Ursula Felderhoff-Müser, Mark Dzietko
BACKGROUND: Hypoxic-ischemic (HI) injury to the developing brain occurs in 1 out of 1,000 live births and remains a major cause of significant morbidity and mortality. A large number of survivors suffer from long-term sequelae including seizures and neurological deficits. However, the pathophysiological mechanisms of recovery after HI insult are not clearly understood, and preventive measures or clinical treatments are nonexistent or not sufficiently effective in the clinical setting...
March 25, 2017: Developmental Neuroscience
https://www.readbyqxmd.com/read/28343073/breviscapine-confers-a-neuroprotective-efficacy-against-transient-focal-cerebral-ischemia-by-attenuating-neuronal-and-astrocytic-autophagy-in-the-penumbra
#15
Zhang Pengyue, Guo Tao, He Hongyun, Yang Liqiang, Deng Yihao
Breviscapine is a flavonoid derived from a traditional Chinese herb Erigerin breviscapus (Vant.) Hand-Mazz, and has been extensively used in clinical treatment for cerebral stroke in China, but the underlying pharmacological mechanisms are still unclear. In present study, we investigated whether breviscapine could confer a neuroprotection against cerebral ischemia injury by targeting autophagy mechanisms. A cerebral stroke model in Sprague-Dawley rats was prepared by middle cerebral artery occlusion (MCAO), rats were then randomly divided into 5 groups: MCAO+Bre group, rats were treated with breviscapine; MCAO+Tat-Beclin-1 group, animals were administrated with specific autophagy inducer Tat-Beclin-1; MCAO+Bre+Tat-Beclin-1 group, rats were treated with both breviscapine and Tat-Beclin-1, MCAO+saline group, rats received the same volume of physiological saline, and Sham surgery group...
March 23, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28342820/injury-of-the-obturator-nerve-in-the-modified-stoppa-approach-for-acetabular-fractures
#16
Ji Wan Kim, Hyun Chul Shon, Jai Hyung Park
INTRODUCTION: The modified Stoppa approach for acetabular fractures has become popular. However, the possibility of injury to the obturator nerve with this approach has not been sufficiently considered. We have experienced a case of nerve entrapment in severely displaced fractures. Therefore we performed a retrospective study to: 1) evaluate the incidence of obturator nerve injury in the modified Stoppa approach for acetabular fractures, 2) analyze the relationship between the extent of displacement of the quadrilateral plate and injury to the obturator nerve HYPOTHESIS: We hypothesized that obturator nerve injury would be related to a marked medial displacement of the quadrilateral plate PATIENTS AND METHODS: We conducted a retrospective cohort study of 22 patients with acetabular fractures that were surgically treated with the modified Stoppa approach...
March 22, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/28342781/modulation-of-neuroinflammation-the-role-and-therapeutic-potential-of-transient-receptor-potential-vanilloid-1-in-neuro-immune-axis
#17
REVIEW
Wei-Lin Kong, Yuan-Yuan Peng, Bi-Wen Peng
Transient receptor potential vanilloid type 1 channel (TRPV1), as a ligand-gated non-selective cation channel, has recently been demonstrated to have wide expression in the neuro-immune axis, where its multiple functions occur through regulation of both neuronal and non-neuronal activities. Growing evidence has suggested that TRPV1 is functionally expressed in glial cells, especially in the microglia and astrocytes. Glial cells perform immunological functions in response to pathophysiological challenges through pro-inflammatory or anti-inflammatory cytokines and chemokines in which TRPV1 is involved...
March 22, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/28342748/rnai-of-arcrna-hsr%C3%AF-affects-sub-cellular-localization-of-drosophila-fus-to-drive-neurodiseases
#18
Luca Lo Piccolo, Masamitsu Yamaguchi
Defective RNA metabolism is common pathogenic mechanisms involved in neurological disorders. Indeed, a conspicuous feature of some neurodegenerative diseases is the loss of nuclear activities of RNA-binding proteins (RBPs) like Fused in sarcoma (FUS) and eventually, their accumulation in cytoplasmic proteinaceous inclusions. Long non-coding RNAs (lncRNAs) are emerging as important regulators of tissue physiology and disease processes, including neurological disorders. A subset of these lncRNAs is the core of nuclear bodies (NBs), which are the sites of RNA processing and sequestration of specific ribonucleoproteins (RNPs) complexes...
March 22, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28341672/activation-of-myeloid-tlr4-mediates-t-lymphocyte-polarization-after-traumatic-brain-injury
#19
Molly Braun, Kumar Vaibhav, Nancy Saad, Sumbul Fatima, Darrell W Brann, John R Vender, Lei P Wang, Md Nasrul Hoda, Babak Baban, Krishnan M Dhandapani
Traumatic brain injury (TBI) is a major public health issue, producing significant patient mortality and poor long-term outcomes. Increasing evidence suggests an important, yet poorly defined, role for the immune system in the development of secondary neurologic injury over the days and weeks following a TBI. In this study, we tested the hypothesis that peripheral macrophage infiltration initiates long-lasting adaptive immune responses after TBI. Using a murine controlled cortical impact model, we used adoptive transfer, transgenic, and bone marrow chimera approaches to show increased infiltration and proinflammatory (classically activated [M1]) polarization of macrophages for up to 3 wk post-TBI...
March 24, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28341583/a-story-of-birth-and-death-insights-into-the-formation-and-dynamics-of-the-microglial-population
#20
REVIEW
Katharine Askew, Diego Gomez-Nicola
Microglia are the main resident immunocompetent cells of the brain with key roles in brain development, homeostasis and function. Here we briefly review our current knowledge of the homeostatic mechanisms regulating the composition and turnover of the microglial population under physiological conditions from development to ageing. A greater understanding of these mechanisms may inform understanding of how dysregulation of microglial dynamics could contribute to the pathogenesis and/or progression of neurological disorders...
March 21, 2017: Brain, Behavior, and Immunity
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