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https://www.readbyqxmd.com/read/28441825/-progressive-cavitating-leukoencephalopathy-four-cases-and-literatures-review
#1
C H Ren, F Fang, H Cheng, C H Ding, C H Chen, Y J Zhang, D M Shen
Objective: To analyze the clinical and genetic features of progressive cavitating leukoencephalopathy (PCL). Method: The data of clinical and genetic features of 4 PCL patients diagnosed by Beijing Children's Hospital between January 2015 and January 2016 were analyzed. The cases with complete clinical data retrieved on literature search at China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform and PubMed (up to August 2016) by using search terms of"NDUFV1" ,"NDUFS1" , or"leukoencephalopathy" , were summarized...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441824/-clinical-and-neuroimaging-features-of-acute-encephalopathy-after-status-epilepticus-in-dravet-syndrome
#2
X J Tian, Y H Zhang, A J Liu, X L Yang, Q Zeng, Z X Yang, J T Ye, X Y Liu, Y W Jiang, X R Wu
Objective: To investigate the clinical and neuroimaging characteristics of acute encephalopathy (AE) after status epilepticus (SE) of patients with Dravet syndrome (DS). Method: The clinical data of DS patients who had AE (coma ≥24 h) after SE were retrospectively collected from February 2005 to August 2016 in Peking University First Hospital and SCN1A gene tests were performed.The clinical and neuroimaging features were summarized. Result: Twenty-two patients (9 males and 13 females) with AE were collected among 412 DS patients during follow-up...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441636/psychological-features-and-quality-of-life-in-50-adult-patients-with-epilepsy-and-their-caregivers-from-the-lecco-epilepsy-center-italy
#3
Alessandra Petruzzi, Andrea Rigamonti, Claudia Yvonne Finocchiaro, Paolo Borelli, Elena Lamperti, Antonio Silvani, Rossana Regazzoni, Lorenzo Stanzani, Andrea Salmaggi
Epilepsy is one of the most common neurological disorders. To the best of our knowledge, in Italy, the relationship between patients' and caregivers' psychological state has rarely been analyzed. Thus, we sought to evaluate both the psychological state of patients with epilepsy and that of their caregivers and the interrelationship between them. We also assessed the existing relation between psychological features and some clinical and demographic information, such as number of antiepileptic drugs (AEDs), epilepsy duration and education level of patients and their caregivers...
April 22, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28441561/neural-circuits-reduced-inhibition-in-fragile-x-syndrome
#4
Randall M Golovin, Kendal Broadie
The Drosophila Fragile X Syndrome model has long generated insights into this devastating neurological disease state. A recent study of olfactory neural circuitry shows that decreased lateral inhibition onto projection neurons relaying sensory input into higher brain centers causes impaired behavior.
April 24, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28441453/brainstem-response-patterns-in-deeply-sedated-critically-ill-patients-predict-28-day-mortality
#5
Benjamin Rohaut, Raphael Porcher, Tarik Hissem, Nicholas Heming, Patrick Chillet, Kamel Djedaini, Guy Moneger, Stanislas Kandelman, Jeremy Allary, Alain Cariou, Romain Sonneville, Andréa Polito, Marion Antona, Eric Azabou, Djillali Annane, Shidasp Siami, Fabrice Chrétien, Jean Mantz, Tarek Sharshar
BACKGROUND AND PURPOSE: Deep sedation is associated with acute brain dysfunction and increased mortality. We had previously shown that early-assessed brainstem reflexes may predict outcome in deeply sedated patients. The primary objective was to determine whether patterns of brainstem reflexes might predict mortality in deeply sedated patients. The secondary objective was to generate a score predicting mortality in these patients. METHODS: Observational prospective multicenter cohort study of 148 non-brain injured deeply sedated patients, defined by a Richmond Assessment sedation Scale (RASS) <-3...
2017: PloS One
https://www.readbyqxmd.com/read/28441414/regional-early-and-progressive-loss-of-brain-pericytes-but-not-vascular-smooth-muscle-cells-in-adult-mice-with-disrupted-platelet-derived-growth-factor-receptor-%C3%AE-signaling
#6
Angeliki Maria Nikolakopoulou, Zhen Zhao, Axel Montagne, Berislav V Zlokovic
Pericytes regulate key neurovascular functions of the brain. Studies in pericyte-deficient transgenic mice with aberrant signaling between endothelial-derived platelet-derived growth factor BB (PDGF-BB) and platelet-derived growth factor receptor β (PDGFRβ) in pericytes have contributed to better understanding of the role of pericytes in the brain. Here, we studied PdgfrβF7/F7 mice, which carry seven point mutations that disrupt PDGFRβ signaling causing loss of pericytes and vascular smooth muscle cells (VSMCs) in the developing brain...
2017: PloS One
https://www.readbyqxmd.com/read/28441394/maternal-obese-type-gut-microbiota-differentially-impact-cognition-anxiety-and-compulsive-behavior-in-male-and-female-offspring-in-mice
#7
Annadora J Bruce-Keller, Sun-Ok Fernandez-Kim, R Leigh Townsend, Claudia Kruger, Richard Carmouche, Susan Newman, J Michael Salbaum, Hans-Rudolf Berthoud
Maternal obesity is known to predispose offspring to metabolic and neurodevelopmental abnormalities. While the mechanisms underlying these phenomena are unclear, high fat diets dramatically alter intestinal microbiota, and gut microbiota can impact physiological function. To determine if maternal diet-induced gut dysbiosis can disrupt offspring neurobehavioral function, we transplanted high fat diet- (HFD) or control low fat diet-associated (CD) gut microbiota to conventionally-housed female mice. Recipient mice were then bred and the behavioral phenotype of male and female offspring was tracked...
2017: PloS One
https://www.readbyqxmd.com/read/28441281/incarcerated-medial-epicondyle-fractures-with-elbow-dislocation-risk-factors-associated-with-morbidity
#8
Carley Vuillermin, Kyna S Donohue, Patricia Miller, Andrea S Bauer, Dennis E Kramer, Yi-Meng Yen
BACKGROUND: Incarcerated medial epicondyle fractures in association with elbow trauma are rare and an absolute indication for intervention. Because of the infrequent nature, outcomes following this injury are not well documented. We studied a large cohort of these injuries to determine factors associated with functional outcomes. It was hypothesized that a greater duration between initial presentation and time of surgery would lead to poorer outcomes. METHODS: A total of 32 patients aged 18 and under who underwent surgical treatment for an incarcerated medical epicondyle fracture at a level-1 pediatric trauma center from 2003 to 2015 were identified...
April 24, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28441280/the-clinical-utility-of-flexion-extension-cervical-spine-mri-in-22q11-2-deletion-syndrome
#9
Samuel E Kolman, Stephanie Y Ohara, Aashim Bhatia, Tamara Feygin, Dino Colo, Keith D Baldwin, Donna Mcdonald-Mcginn, David A Spiegel
BACKGROUND: Our goal is to correlate the findings on flexion and extension radiographs with dynamic magnetic resonance imaging (MRI), and the clinical history, in a nonrandomly selected cohort of patients with 22q11.2 deletion syndrome (22q). METHODS: All patients with the 22q who had a dynamic MRI from January 2004 to March 2015 were included. We analyzed multiple radiographic measurements on both the dynamic plain films and the MRIs, and correlated these findings with a review of each patient's medical record...
April 24, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28441266/safety-of-the-inactivated-japanese-encephalitis-virus-vaccine-ixiaro%C3%A2-in-children-an-open-label-randomized-active-controlled-phase-3-study
#10
Katrin L Dubischar, Vera Kadlecek, Benjamin Sablan, Charissa Fay Borja-Tabora, Salvacion Gatchalian, Susanne Eder-Lingelbach, Zsuzsanna Mueller, Kerstin Westritschnig
BACKGROUND: Japanese encephalitis (JE) remains a serious health concern in Asian countries and has sporadically affected pediatric travelers. In the present study we monitored the safety profile of the JE virus (JEV) vaccine IXIARO in a pediatric population. METHODS: We randomized 1869 children between the age of 2 months and 17 years in an age-stratified manner to vaccination with IXIARO or one of the control vaccines, Prevnar and HAVRIX 720. Adverse events (AEs) (unsolicited and solicited local and systemic adverse events), serious AEs and medically-attended AEs were assessed up to Day 56 and Month 7 after the first dose...
April 24, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28441232/atriobronchial-fistula-complicated-by-septic-cerebral-air-emboli-after-pulmonary-vein-ablation
#11
David Velghe, Thomas Apers, Stefanie Devriendt, Ivo Deblier, Bart Hendriks, Rogier Nieuwendijk, Peter Rogiers
OBJECTIVE: To describe a case of an infected atriobronchial fistula as a late complication after pulmonary vein ablation, leading to septic air emboli and requiring urgent cardiac surgery. DATA SOURCES: Clinical observation. STUDY SELECTION: Case report. DATA EXTRACTION: Relevant clinical information. PubMed was searched for relevant literature. DATA SYNTHESIS: Given its high success and low complication rate, pulmonary vein isolation is expected to be increasingly performed worldwide...
April 22, 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28441051/diffusion-weighted-magnetic-resonance-imaging-of-the-brain-of-neurologically-normal-dogs
#12
Megan J MacLellan, Christopher P Ober, Daniel A Feeney, Carl R Jessen
OBJECTIVE To acquire MRI diffusion data (apparent diffusion coefficient [ADC] and fractional anisotropy [FA] values, including separate measures for gray and white matter) at 3.0 T for multiple locations of the brain of neurologically normal dogs. ANIMALS: 13 neurologically normal dogs recruited from a group of patients undergoing tibial plateau leveling osteotomy. PROCEDURES: MRI duration ranged from 20 to 30 minutes, including obtaining preliminary images to exclude pathological changes (T2-weighted fluid-attenuated inversion recovery transverse and dorsal images) and diffusion-weighted images...
May 2017: American Journal of Veterinary Research
https://www.readbyqxmd.com/read/28440997/-neisseria-meningitidis-a-clinical-case-with-multi-organ-affection
#13
Alejandro Medina-Reyes, Beatriz Díaz-Polanco, Diego Sandoval-Chávez, Manuel Nodal-Hernández, Juan R Ayala-Franco
Neisseria meningitidis (Nm) is an agent feared for decades in the medical field due to its important morbidity and mortality. Ironically between 10 and 15% of the population will be asymptomatic carriers of this germ, which will also be ready to activate and manifest itself as a sickness at the right moment. We present the case of a nine-year-old girl who arrived at the Pediatric Emergency Service (to the Hospital General Region number 35, in Ciudad Juárez, Chihuahua) with the disease in multiple organs, where the Nm was isolated in the cerebrospinal fluid and in skin injuries, displaying three serotypes of Nm...
May 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28440900/phosphoglycerate-dehydrogenase-phgdh-deficiency-without-epilepsy-mimicking-primary-microcephaly
#14
Antoine Poli, Yoann Vial, Damien Haye, Sandrine Passemard, Manuel Schiff, Hala Nasser, Catherine Delanoe, Emma Cuadro, Rémi Kom, Narcisse Elanga, Anne Favre, Séverine Drunat, Alain Verloes
Phosphoglycerate dehydrogenase (PHGDH) deficiency (OMIM 256520) is a rare autosomal recessive disorder of serine synthesis, with mostly severe congenital microcephaly, caused by mutations in the PHGDH gene. Fourteen patients reported to date show severe, early onset, drug resistant epilepsy. In a cohort of patients referred for primary microcephaly, compound heterozygosity for two unreported variants in PHGDG was identified by exome sequencing in a pair of sibs who died aged 4.5 months and 4.5 years. They had severe neurological involvement with congenital microcephaly, disorganized EEG, and progressive spasticity, but never had seizures...
April 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28440874/role-of-glycogen-synthase-kinase-3-in-ischemia-induced-blood-brain-barrier-disruption-in-aged-female-rats
#15
Han Xiao, Mingyang Deng, Binbin Yang, Jianguang Tang, Zhiping Hu
Estrogen receptors have protective effects against ischemic brain injury. However, the molecular mechanisms underlying this phenomenon have yet to be well studied. Given that inhibition of glycogen synthase kinase (GSK3) can reduce cerebral ischemia/reperfusion injury, we hypothesized that estrogen receptors-mediated protective effects against ischemia-induced blood brain barrier (BBB) disruption involve inhibition of GSK3. Thus, we evaluated GSK3 expression in the brain of ovariectomized female rats, and examined the effects of intracerebroventricular pre-treatments of SB216763, GSK3 inhibitor, on BBB permeability following middle cerebral artery occlusion (MCAO)...
April 25, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28440798/improved-gene-delivery-to-adult-mouse-spinal-cord-through-the-use-of-engineered-hybrid-adeno-associated-viral-serotypes
#16
J J Siu, N J Queen, W Huang, F Q Yin, X Liu, C Wang, D M McTigue, L Cao
Adeno-associated viral (AAV) vectors are often used in gene therapy for neurological disorders because of its safety profile and promising results in clinical trials. One challenge to AAV gene therapy is effective transduction of large numbers of the appropriate cell type, which can be overcome by modulating the viral capsid through DNA shuffling. Our previous study demonstrates that Rec2, among a family of novel engineered hybrid capsid serotypes (Rec1~4) transduces adipose tissue with far superior efficiency than naturally occurring AAV serotypes...
April 25, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28440687/the-consequence-of-spatial-visual-processing-dysfunction-caused-by-traumatic-brain-injury-tbi
#17
William V Padula, Jose E Capo-Aponte, William V Padula, Eric L Singman, Jonathan Jenness
OBJECTIVE: A bi-modal visual processing model is supported by research to affect dysfunction following a traumatic brain injury (TBI). TBI causes dysfunction of visual processing affecting binocularity, spatial orientation, posture and balance. Research demonstrates that prescription of prisms influence the plasticity between spatial visual processing and motor-sensory systems improving visual processing and reducing symptoms following a TBI. RATIONALE: The rationale demonstrates that visual processing underlies the functional aspects of binocularity, balance and posture...
April 25, 2017: Brain Injury: [BI]
https://www.readbyqxmd.com/read/28440586/comparison-of-preoperative-quantitative-magnetic-resonance-imaging-and-clinical-assessment-of-deep-pain-perception-as-prognostic-tools-for-early-recovery-of-motor-function-in-paraplegic-dogs-with-intervertebral-disk-herniations
#18
A Wang-Leandro, J S Siedenburg, M K Hobert, P Dziallas, K Rohn, V M Stein, A Tipold
BACKGROUND: Prognostic tools to predict early postoperative motor function recovery (MFR) after thoracolumbar intervertebral disk herniation (IVDH) in paraplegic dogs represent an opportunity to timely implement novel therapies that could shorten recovery times and diminish permanent neurological dysfunctions. HYPOTHESIS: Fractional anisotropy (FA) values obtained using diffusion tensor imaging have a higher prognostic value than a lesion extension ratio in T2-weighted images (T2W-LER) and clinical assessment of deep pain perception (DPP) for MFR...
April 25, 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28440493/the-extracellular-signal-regulated-kinase-1-2-pathway-in-neurological-diseases-a-potential-therapeutic-target-review
#19
Jing Sun, Guangxian Nan
Signaling pathways are critical modulators of a variety of physiological and pathological processes, and the abnormal activation of some signaling pathways can contribute to disease progression in various conditions. As a result, signaling pathways have emerged as an important tool through which the occurrence and development of diseases can be studied, which may then lead to the development of novel drugs. Accumulating evidence supports a key role for extracellular signal-regulated kinase 1/2 (ERK1/2) signaling in the embryonic development of the central nervous system (CNS) and in the regulation of adult brain function...
April 21, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28440418/two-novel-mutations-in-ercc6-cause-cockayne-syndrome-b-in-a-chinese-family
#20
Chunxia He, Mao Sun, Guoxia Wang, Ying Yang, Libo Yao, Yuanming Wu
Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized principally by progressive growth failure, neurologic abnormality and premature aging. Mutations of excision repair cross‑complementation group 6 (ERCC6) and ERCC8 are predominantly responsible for CS, of which mutation of ERCC6 accounts for approximately two thirds of cases. The current report describes two siblings with severe neurologic abnormality and premature aging. Whole exome sequencing identified two novel mutations in ERCC6 that had not been previously reported...
April 20, 2017: Molecular Medicine Reports
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