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https://www.readbyqxmd.com/read/29691940/novel-cask-mutations-in-cases-with-syndromic-microcephaly
#1
Francesca Cristofoli, Koen Devriendt, Erica E Davis, Hilde Van Esch, Joris R Vermeesch
Mutations in CASK cause a wide spectrum of phenotypes in humans ranging from mild X-linked intellectual disability to a severe microcephaly (MC) and pontocerebellar hypoplasia syndrome. Nevertheless, predicting pathogenicity and phenotypic consequences of novel CASK mutations through the exclusive consideration of genetic information and population-based data remains a challenge. Using whole exome sequencing, we identified four novel CASK mutations in individuals with syndromic MC. To understand the functional consequences of the different point mutations on the development of MC and cerebellar defects we established a transient loss of function zebrafish model, and demonstrate recapitulation of relevant neuroanatomical phenotypes...
April 24, 2018: Human Mutation
https://www.readbyqxmd.com/read/29675962/dual-wavelength-hybrid-optoacoustic-ultrasound-biomicroscopy-for-functional-imaging-of-large-scale-cerebral-vascular-networks
#2
Johannes Rebling, Héctor Estrada, Sven Gottschalk, Gali Sela, Michael Zwack, Georg Wissmeyer, Vasilis Ntziachristos, Daniel Razansky
A critical link exists between pathological changes of cerebral vasculature and diseases affecting brain function. Microscopic techniques have played an indispensable role in the study of neurovascular anatomy and functions. Yet, investigations are often hindered by sub-optimal trade-offs between the spatiotemporal resolution, field-of-view and type of contrast offered by the existing optical microscopy techniques. We present a hybrid dual-wavelength optoacoustic biomicroscope capable of rapid transcranial visualization of large-scale cerebral vascular networks...
April 19, 2018: Journal of Biophotonics
https://www.readbyqxmd.com/read/29674089/biophysical-modeling-of-neural-plasticity-induced-by-transcranial-magnetic-stimulation
#3
REVIEW
Marcus T Wilson, Ben D Fulcher, Park K Fung, P A Robinson, Alex Fornito, Nigel C Rogasch
Transcranial magnetic stimulation (TMS) is a widely used noninvasive brain stimulation method capable of inducing plastic reorganisation of cortical circuits in humans. Changes in neural activity following TMS are often attributed to synaptic plasticity via process of long-term potentiation and depression (LTP/LTD). However, the precise way in which synaptic processes such as LTP/LTD modulate the activity of large populations of neurons, as stimulated en masse by TMS, are unclear. The recent development of biophysical models, which incorporate the physiological properties of TMS-induced plasticity mathematically, provide an excellent framework for reconciling synaptic and macroscopic plasticity...
April 5, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29670490/complements-to-the-chef-are-microglia-eating-neurons-in-the-epileptic-brain
#4
COMMENT
Jenny Koenig, Chris Dulla
No abstract text is available yet for this article.
March 2018: Epilepsy Currents
https://www.readbyqxmd.com/read/29670409/safinamide-an-add-on-treatment-for-managing-parkinson-s-disease
#5
REVIEW
Thomas Müller
Heterogeneous expression of neurotransmitter deficits results from onset and progression of Parkinson's disease. Intervals, characterized by reappearance of motor and associated certain nonmotor symptoms, determine the end of good tolerability and efficacy of oral levodopa therapy. These "OFF" states result from levodopa pharmacokinetics and disease progression-related deterioration of the central buffering capacity for fluctuations of dopamine levels. This review discusses safinamide as an add-on therapeutic agent in orally levodopa-treated patients with "OFF" phenomena...
2018: Clinical Pharmacology: Advances and Applications
https://www.readbyqxmd.com/read/29665816/selective-localization-of-igg-from-cerebrospinal-fluid-to-brain-parenchyma
#6
Marlene Thorsen Mørch, Sofie Forsberg Sørensen, Reza Khorooshi, Nasrin Asgari, Trevor Owens
BACKGROUND: Encounter of autoantibodies with specific antigens can lead to hypersensitivity reactions and pathology. In multiple sclerosis and neuromyelitis optica spectrum disease (NMOSD), immunoglobulin-G (IgG) deposition has been observed in pathological lesions in the central nervous system. The paradigmatic autoantibodies in NMOSD are specific for the water channel aquaporin-4, localized to astrocytic end-feet at the blood-brain barrier and ependymal cells at the cerebrospinal fluid-brain barrier...
April 17, 2018: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29664465/a-high-resolution-probabilistic-in-vivo-atlas-of-human-subcortical-brain-nuclei
#7
Wolfgang M Pauli, Amanda N Nili, J Michael Tyszka
Recent advances in magnetic resonance imaging methods, including data acquisition, pre-processing and analysis, have benefited research on the contributions of subcortical brain nuclei to human cognition and behavior. At the same time, these developments have led to an increasing need for a high-resolution probabilistic in vivo anatomical atlas of subcortical nuclei. In order to address this need, we constructed high spatial resolution, three-dimensional templates, using high-accuracy diffeomorphic registration of T1 - and T2 - weighted structural images from 168 typical adults between 22 and 35 years old...
April 17, 2018: Scientific Data
https://www.readbyqxmd.com/read/29662628/a-gene-expression-signature-predicts-recurrence-free-survival-in-meningioma
#8
Adriana Olar, Lindsey D Goodman, Khalida M Wani, Nicholas S Boehling, Devi S Sharma, Reema R Mody, Joy Gumin, Elizabeth B Claus, Frederick F Lang, Timothy F Cloughesy, Albert Lai, Kenneth D Aldape, Franco DeMonte, Erik P Sulman
BACKGROUND: Meningioma is the most common primary brain tumor and has a variable risk of local recurrence. While World Health Organization (WHO) grade generally correlates with recurrence, there is substantial within-grade variation of recurrence risk. Current risk stratification does not accurately predict which patients are likely to benefit from adjuvant radiation therapy (RT). We hypothesized that tumors at risk for recurrence have unique gene expression profiles (GEP) that could better select patients for adjuvant RT...
March 23, 2018: Oncotarget
https://www.readbyqxmd.com/read/29657367/navigational-strategies-and-their-neural-correlates
#9
Deepa Jain, Indraja R Jakhalekar, Sachin S Deshmukh
Animals depend on navigation to find food, water, mate(s), shelter, etc. Different species use diverse strategies that utilise forms of motion- and location-related information derived from the environment to navigate to their goals and back. We start by describing behavioural studies undertaken to unearth different strategies used in navigation. Then we move on to outline what we know about the brain area most associated with spatial navigation, namely the hippocampal formation. While doing so, we first briefly explain the anatomical connections in the area and then proceed to describe the neural correlates that are considered to play a role in navigation...
December 2017: Journal of the Indian Institute of Science
https://www.readbyqxmd.com/read/29657307/non-coding-rna-as-novel-players-in-the-pathophysiology-of-schizophrenia
#10
REVIEW
Andrew Gibbons, Madhara Udawela, Brian Dean
Schizophrenia is associated with diverse changes in the brain's transcriptome and proteome. Underlying these changes is the complex dysregulation of gene expression and protein production that varies both spatially across brain regions and temporally with the progression of the illness. The growing body of literature showing changes in non-coding RNA in individuals with schizophrenia offers new insights into the mechanisms causing this dysregulation. A large number of studies have reported that the expression of microRNA (miRNA) is altered in the brains of individuals with schizophrenia...
April 12, 2018: Non-Coding RNA
https://www.readbyqxmd.com/read/29657181/a-personal-narrative-on-living-and-dealing-with-psychiatric-symptoms-after-dbs-surgery
#11
Frédéricand Gilbert, John Noel Viaña
Although deep brain stimulation (DBS) may result in dramatic motor improvement in people with Parkinson's disease (PD), it has been correlated with a number of postoperative psychiatric side effects. We report a case of a person with PD experiencing depression and hypomania following DBS surgery. We provide a detailed report of the patient's personal experiences dealing with and managing these psychiatric side effects for three years. Providing a personal narrative focusing on detailed patient subjective experiences complements reports that give insight into the short- and long-term effects of DBS on established psychiatric measures and neurologic activity...
2018: Narrative Inquiry in Bioethics
https://www.readbyqxmd.com/read/29655930/circadian-signaling-in-homarus-americanus-region-specific-de-novo-assembled-transcriptomes-show-that-both-the-brain-and-eyestalk-ganglia-possess-the-molecular-components-of-a-putative-clock-system
#12
Andrew E Christie, Andy Yu, Micah G Pascual, Vittoria Roncalli, Matthew C Cieslak, Amanda N Warner, Tess J Lameyer, Meredith E Stanhope, Patsy S Dickinson, J Joe Hull
Essentially all organisms exhibit recurring patterns of physiology/behavior that oscillate with a period of ~24-h and are synchronized to the solar day. Crustaceans are no exception, with robust circadian rhythms having been documented in many members of this arthropod subphylum. However, little is known about the molecular underpinnings of their circadian rhythmicity. Moreover, the location of the crustacean central clock has not been firmly established, although both the brain and eyestalk ganglia have been hypothesized as loci...
April 11, 2018: Marine Genomics
https://www.readbyqxmd.com/read/29652127/optical-probes-for-neurobiological-sensing-and-imaging
#13
Eric H Kim, Gregory Chin, Guoxin Rong, Kira E Poskanzer, Heather A Clark
Fluorescent nanosensors and molecular probes are next-generation tools for imaging chemical signaling inside and between cells. Electrophysiology has long been considered the gold standard in elucidating neural dynamics with high temporal resolution and precision, particularly on the single-cell level. However, electrode-based techniques face challenges in illuminating the specific chemicals involved in neural cell activation with adequate spatial information. Measuring chemical dynamics is of fundamental importance to better understand synergistic interactions between neurons as well as interactions between neurons and non-neuronal cells...
April 13, 2018: Accounts of Chemical Research
https://www.readbyqxmd.com/read/29651153/decipher-reliable-biomarkers-of-brain-aging-by-integrating-literature-based-evidence-with-interactome-data
#14
Sang-Hun Bae, Han Wool Kim, SeoJeong Shin, Joopyung Kim, Yun-Hwa Jeong, Jisook Moon
Aging is an inevitable progressive decline in every physiological function and serves as a primary risk factor for cognitive decline and Alzheimer's disease. Thus, age-dependent impairments in cognitive function must be understood in association with general aging processes with an integrative approach in a systemic manner. An integrative aging gene network was constructed based on mutual molecular interactions using literature-curated interactome data and separated into functionally distinct modules. To investigate key surrogate biomarkers of the aging brain in the context of the general aging process, co-expression networks were built on post-mortem and Alzheimer's brain transcriptome data...
April 13, 2018: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/29627530/an-enriched-environment-restores-hepatitis-b-vaccination-mediated-impairments-in-synaptic-function-through-ifn-%C3%AE-arginase1-signaling
#15
Fangfang Qi, Zejie Zuo, Saisai Hu, Yucen Xia, Dan Song, Jiechen Kong, Yang Yang, Yingying Wu, Xiao Wang, Junhua Yang, Dandan Hu, Qunfang Yuan, Juntao Zou, Kaihua Guo, Jie Xu, Zhibin Yao
Activation of the neonatal immune system may contribute to deficits in neuronal plasticity. We have reported that neonatal vaccination with a hepatitis B vaccine (HBV) transiently impairs mood status and spatial memory involving a systemic T helper (Th) 2 bias and M1 microglial activation. Here, an EE induced microglial anti-inflammatory M2 polarization, as evidenced by selectively enhanced expression of the Arginase1 gene (Arg-1) in the hippocampus. Interestingly, knock-down of the Arg-1 gene prevented the effects of EE on restoring the dendritic spine density...
April 5, 2018: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/29616278/rehabilitation-service-models-for-people-with-physical-and-or-mental-disability-living-in-low-and-middle-income-countries-a-systematic-review
#16
Andréa D Furlan, Emma Irvin, Claire Munhall, Mario Giraldo-Prieto, Laura Fullerton, Robert McMaster, Shivang Danak, Alicia Costante, Kristen B Pitzul, Rohit P Bhide, Stanislav Marchenko, Quenby Mahood, Judy A David, John F Flannery, Mark Bayley
OBJECTIVE: To compare models of rehabilitation services for people with mental and/or physical disability in order to determine optimal models for therapy and interventions in low- to middle-income countries. DATA SOURCES: CINAHL, EMBASE, MEDLINE, CENTRAL, PsycINFO, Business Source Premier, HINARI, CEBHA and PubMed. STUDY SELECTION: Systematic reviews, randomized control trials and observational studies comparing >2 models of rehabilitation care in any language...
April 3, 2018: Journal of Rehabilitation Medicine
https://www.readbyqxmd.com/read/29616032/astrocytic-interleukin-15-reduces-pathology-of-neuromyelitis-optica-in-mice
#17
Zhiguo Li, Jinrui Han, Honglei Ren, Cun-Gen Ma, Fu-Dong Shi, Qiang Liu, Minshu Li
Astrocyte loss induced by neuromyelitis optica (NMO)-IgG and complement-dependent cytotoxicity (CDC) is the hallmark of NMO pathology. The survival of astrocytes is thought to reflect astrocyte exposure to environmental factors in the CNS and the response of astrocytes to these factors. However, still unclear are how astrocytes respond to NMO-IgG and CDC, and what CNS environmental factors may impact the survival of astrocytes. In a murine model of NMO induced by intracerebral injection of NMO-IgG and human complement, we found dramatic upregulation of IL-15 in astrocytes...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29606504/a-chimeric-antibody-against-ackr3-cxcr7-in-combination-with-tmz-activates-immune-responses-and-extends-survival-in-mouse-gbm-models
#18
Nicole Salazar, Jeffrey C Carlson, Kexin Huang, Yayue Zheng, Cecilia Oderup, Julia Gross, Andrew D Jang, Thomas M Burke, Susanna Lewén, Alexander Scholz, Serina Huang, Leona Nease, Jon Kosek, Michel Mittelbronn, Eugene C Butcher, Hua Tu, Brian A Zabel
Glioblastoma (GBM) is the least treatable type of brain tumor, afflicting over 15,000 people per year in the United States. Patients have a median survival of 16 months, and over 95% die within 5 years. The chemokine receptor ACKR3 is selectively expressed on both GBM cells and tumor-associated blood vessels. High tumor expression of ACKR3 correlates with poor prognosis and potential treatment resistance, making it an attractive therapeutic target. We engineered a single chain FV-human FC-immunoglobulin G1 (IgG1 ) antibody, X7Ab, to target ACKR3 in human and mouse GBM cells...
March 6, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29606485/complement-the-emerging-architect-of-the-developing-brain
#19
REVIEW
Liam G Coulthard, Owen A Hawksworth, Trent M Woodruff
Complement activation products have long been associated with roles in the innate immune system, linking the humoral and cellular responses. However, among their recently described non-inflammatory roles, complement proteins also have multiple emerging novel functions in brain development. Within this context, separate proteins and pathways of complement have carved out physiological niches in the formation, development, and refinement of neurons. They demonstrate actions that are both reminiscent of peripheral immune actions and removed from them...
March 29, 2018: Trends in Neurosciences
https://www.readbyqxmd.com/read/29604399/brief-report-recurrently-mutated-genes-differ-between-leptomeningeal-and-solid-lung-cancer-brain-metastases
#20
Yingmei Li, Boxiang Liu, Ian David Connolly, Bina Wasunga Kakusa, Wenying Pan, Seema Nagpal, Stephen B Montgomery, Melanie Hayden Gephart
When compared to solid brain metastases from NSCLC, leptomeningeal disease (LMD) has unique growth patterns and is rapidly fatal. LMD does not undergo surgical resection, limiting the tissue available for scientific research. Here we performed whole-exome sequencing (WES) on 8 LMD samples to identify somatic mutations and compared the results with 26 solid brain metastases. We found that TAS2R31 and PDE4DIP were recurrently mutated among LMD samples, suggesting involvement in LMD progression. Together with retrospective chart review of an additional 44 NSCLC LMD patients, we discovered a surprisingly low number of KRAS mutations (n=4, 7...
March 28, 2018: Journal of Thoracic Oncology
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