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https://www.readbyqxmd.com/read/28938448/novel-autosomal-dominant-pth-gene-signal-sequence-mutation-in-a-family-with-familial-isolated-hypoparathyroidism
#1
Luigia Cinque, Angelo Sparaneo, Laura Penta, Amedea Mencarelli, Daniela Rogaia, Susanna Esposito, Federico Pio Fabrizio, Filomena Baorda, Alberto Verrotti, Alberto Falorni, Gabriela Stangoni, Geoffrey N Hendy, Vito Guarnieri, Paolo Prontera
Context: Familial isolated hypoparathyroidism (FIH) is a genetically heterogeneous disorder due to mutations of the calcium-sensing receptor (CASR), glial cells missing-2 (GCM2), guanine nucleotide binding protein alpha 11 (GNA11), or parathyroid hormone (PTH) genes. Thus far, only 4 cases with homozygous and 2 cases with heterozygous mutations in the PTH gene have been reported. Objective: To clinically describe an FIH family and identify and characterize the causal gene mutation...
August 18, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938333/pediatric-glial-heterotopia-in-the-medial-canthus
#2
Soung Min Kim, Emmanuel Kofi Amponsah, Mi Young Eo, Yun Ju Cho, Suk Keun Lee
Glial heterotopias are rare, benign, congenital, midline, and nonteratomatous extracranial glial tissue. They may be confused as encephalocele or dermoid cysts and are mostly present in the nose.An 8-month-old African female child presented with a slow growing paranasal mass. The mass had been present at the left upper medial canthus since birth and had slowly and progressively enlarged. There was no communication between the mass and the cranial cavity during the operational procedure. The mass was immunohistochemically positive for S-100 protein as well as for glial fibrillary acidic protein, but negative for proliferating cell nuclear antigen...
September 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28937035/effects-of-pinealectomy-and-gonadectomy-on-olfactory-bulb-dopaminergic-neurons-in-rats
#3
Yan Li, Jian Zhu, Ying Wang, Lei Guo, Lei Li, Dong Wang
BACKGROUND: Olfactory disorder is an early manifestation of Parkinson's disease (PD), likely to be associated with abnormalities of the dopaminergic neurons in the olfactory bulb (OB); however, the causes of olfactory disorder in PD are not entirely clear. Some studies showed that melatonin (MT) and androgens (mainly testosterone, T) might participate in the pathogenesis of PD. The research aimed to investigate effects of MT or T deficiency on OB dopaminergic neurons in rats. METHODS: One hundred and twenty normal male Wistar rats were randomly divided into the control, sham operation pinealectomy (PX), sham operation gonadectomy (GDX), PX, GDX, and PX + GDX groups...
October 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28931760/inflammation-oxidative-stress-and-glial-cell-activation-characterize-stellate-ganglia-from-humans-with-electrical-storm
#4
Olujimi A Ajijola, Donald B Hoover, Thomas M Simerly, T Christopher Brown, Jane Yanagawa, Reshma M Biniwale, Jay M Lee, Ali Sadeghi, Negar Khanlou, Jeffrey L Ardell, Kalyanam Shivkumar
BACKGROUND: Neuronal remodeling in human heart disease is not well understood. METHODS: Stellate ganglia from patients with cardiomyopathy (CMY) and refractory ventricular arrhythmias undergoing cardiac sympathetic denervation (n = 8), and from organ donors with normal hearts (n = 8) collected at the time of organ procurement were compared. Clinical data on all subjects were reviewed. Electron microscopy (EM), histologic, and immunohistochemical assessments of neurotransmitter profiles, glial activation and distribution, and lipofuscin deposition, a marker of oxidative stress, were quantified...
September 21, 2017: JCI Insight
https://www.readbyqxmd.com/read/28922662/treatment-of-autoimmune-glial-fibrillary-acidic-protein-astrocytopathy-follow-up-in-7-cases
#5
Xinguang Yang, Junyan Liang, Qingmei Huang, Huiming Xu, Cong Gao, Youming Long, Xiaoyu Xiao
OBJECTIVE: The aim of this work was to report an autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy with long-term follow-up in 7 patients. METHODS: Antibodies were detected by indirect immunofluorescence assay and patient data were analyzed retrospectively. RESULTS: Seven patients (4 female, 3 male) with ≥1 year follow-up were included. All patients had positive GFAP antibodies in their cerebral spinal fluid (CSF). Their median age at disease onset was 56 years (range 27-69) and the median disease duration was 1 year (range 1-4)...
September 19, 2017: Neuroimmunomodulation
https://www.readbyqxmd.com/read/28918256/transgene-is-specifically-and-functionally-expressed-in-retinal-inhibitory-interneurons-in-the-vgat-chr2-eyfp-mouse
#6
Guo-Zhong Xu, Ling-Jie Cui, Ai-Lin Liu, Wei Zhou, Xue Gong, Yong-Mei Zhong, Xiong-Li Yang, Shi-Jun Weng
Ectopic transgene expression in the retina has been reported in various transgenic mice, indicating the importance of characterizing retinal phenotypes. We examined transgene expression in the VGAT-ChR2-EYFP mouse retina by fluorescent immunohistochemistry and electrophysiology, with special emphasis on enhanced yellow fluorescent protein (EYFP) localization in retinal neuronal subtypes identified by specific markers. Strong EYFP signals were detected in both the inner and outer plexiform layers. In addition, the ChR2-EYFP fusion protein was also expressed in somata of the great majority of inhibitory interneurons, including horizontal cells and GABAergic and glycinergic amacrine cells...
September 14, 2017: Neuroscience
https://www.readbyqxmd.com/read/28916475/deletion-of-nadh-oxidase-in-listeria-monocytogenes-promotes-the-bacterial-infection-of-brain
#7
Sen Li, Wenwen Yu, Xiao Guan, Zhen Luo, Guowei Chen, Wukang Liu, Jingchen Zhang
NADH oxidase (NOX) plays important roles in respiration and reactive oxygen species (ROS) generation in cells. In this study, we explored the function of NOX in Listeria monocytogenes by gene deletion. From our results, nox mutant strain (∆nox) had lower H2O2 level and showed no significant alteration in bacteria growth activity. But it had enhanced invasiveness during the invasion of glial cells and mice brain compared to wildtype strain. Furthermore, several virulence genes involved in invasion, such as inlA, inlB, vip and sigB, were upregulated in ∆nox, and the alterations could be restored by complementation...
September 12, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28910154/activation-of-veratridine-sensitive-sodium-channels-but-not-electrical-field-stimulation-dilates-porcine-retinal-arterioles-with-preserved-perivascular-tissue
#8
Nils M Kratholm, Peter Skov Jensen, Sidse Kringelholt, Ulf Simonsen, Toke Bek
PURPOSE: Disturbances in retinal blood flow are a prominent feature of vision threatening retinal diseases. The regulation of tone in retinal resistance vessels involves the perivascular retinal tissue, but it is unknown to what extent neurons or glial cells contribute to the effect. Therefore, the purpose of the present study was to study the contribution of neurons in the perivascular retina to vascular tone during activation of voltage-gated sodium channels with veratridine and electrical field stimulation (EFS)...
September 14, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28892569/serine-racemase-deficiency-attenuates-choroidal-neovascularization-and-reduces-nitric-oxide-and-vegf-levels-by-retinal-pigment-epithelial-cells
#9
Haiyan Jiang, Mengjuan Wu, Yimei Liu, Liping Song, Shifeng Li, Xianwei Wang, Yun-Feng Zhang, Junxu Fang, Shengzhou Wu
Choroidal neovascularization (CNV) is a leading cause of blindness in age-related macular degeneration. Production of VEGF and macrophage recruitment by retinal pigment epithelial cells (RPE) significantly contributes to the process of CNV in an experimental CNV model. Serine racemase (SR) is expressed in retinal neurons and glial cells, and its product, D-serine, is an endogenous co-agonist of N-methyl-D-aspartate receptor (NMDAR). Activation of the receptor results in production of nitric oxide ((.) NO), a molecule that promotes retinal and choroidal neovascularization...
September 11, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28891527/glial-cell-derived-neurotrophic-factor-gene-polymorpisms-affect-severity-and-functionality-of-bipolar-disorder
#10
Roghaiyeh Safari, Zeliha Tunca, Ayşegül Özerdem, Deniz Ceylan, Yaprak Yalçın, Meral Sakizli
Glial cell-derived neurotrophic factor and other neurotrophins have important role in the development of mental disorders. Here, we aimed to assess the effects of Single nucleotide polymorphisms at potentially regulated regions of GDNF on severity and functionality of bipolar disorder and GDNF serum levels in bipolar disorder patients and healthy volunteers. Severity and functionality of bipolar disorder were evaluated using the Clinical Global Impression and Global Assessment of Functioning scales in sixty-six bipolar disorder patients...
2017: Journal of Integrative Neuroscience
https://www.readbyqxmd.com/read/28882088/slc7a11-xct-protein-expression-is-not-altered-in-the-depressed-brain-and-system-xc-deficiency-does-not-affect-depression-associated-behaviour-in-the-corticosterone-mouse-model
#11
Thomas Demuyser, Lauren Deneyer, Eduard Bentea, Giulia Albertini, Teresa Femenia, Laura Walrave, Hideyo Sato, Niels C Danbolt, Dimitri De Bundel, Alex Michotte, Maria Lindskog, Ann Massie, Ilse Smolders
OBJECTIVES: The cystine/glutamate antiporter (system xc-) is believed to contribute to nonvesicular glutamate release from glial cells in various brain areas. Although recent investigations implicate system xc- in mood disorders, unambiguous evidence has not yet been established. Therefore, we evaluated the possible role of system xc- in the depressive state. METHODS: We conducted a protein expression analysis of the specific subunit of system xc- (xCT) in brain regions of the corticosterone mouse model, Flinders Sensitive Line rat model and post-mortem tissue of depressed patients...
September 8, 2017: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/28873259/increased-enteric-glial-cells-in-proximal-margin-of-resection-is-associated-with-postoperative-recurrence-of-crohn-s-disease
#12
Yi Li, Yuanyuan Ge, Weiming Zhu, Jianfeng Gong, Lei Cao, Zhen Guo, Lili Gu, Jieshou Li
BACKGROUND AND AIM: The enteric nervous system can amplify or modulate intestinal inflammation through secretion of neuropeptides, and enteric glial cells has been implicated in the pathophysiology of Crohn's disease. The goal of the study was to search for an association between the density of neurons, neuropeptides, as well as enteric glial cells and postoperative recurrence. METHODS: The ileal proximal uninflamed section from ileocolonic sample was studied using immunohistochemistry with antibodies directed against vasoactive intestinal polypeptide (VIP), substance P (SP), neuron-specific enolase (NES), and the glial marker protein S100...
September 5, 2017: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28871468/microrna-expression-in-the-locus-coeruleus-entorhinal-cortex-and-hippocampus-at-early-and-middle-stages-of-braak-neurofibrillary-tangle-pathology
#13
Franc Llorens, Katrin Thüne, Pol Andrés-Benito, Waqas Tahir, Belén Ansoleaga, Karina Hernández-Ortega, Eulàlia Martí, Inga Zerr, Isidro Ferrer
The present study analyzes by RT-qPCR the expression of microRNA (miRNA)-27a-3p, miRNA-124-3p, miRNA-132-3p, and miRNA-143-3p in the locus coeruleus (LC), entorhinal cortex (EC), CA1 region of the hippocampus (CA1), and dentate gyrus (DG) of middle-aged (MA) individuals with no brain lesions and of cases at Braak and Braak stages I-II and II-IV of neurofibrillary tangle (NFT) pathology. The most affected region is the LC in which miRNA-27a-3p, miRNA-124-3p, and miRNA-143-3p show a trend to increase at stages I-II and are significantly up-regulated at stages III-IV when compared with MA...
September 5, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28856389/structural-and-metabolic-changes-in-the-traumatically-injured-rat-brain-high-resolution-in-vivo-proton-magnetic-resonance-spectroscopy-at-7%C3%A2-t
#14
Jing Li, Can Zhao, Jia-Sheng Rao, Fei-Xiang Yang, Zhan-Jing Wang, Jian-Feng Lei, Zhao-Yang Yang, Xiao-Guang Li
PURPOSE: The understanding of microstructural and metabolic changes in the post-traumatic brain injury is the key to brain damage suppression and repair in clinics. METHODS: Ten female Wistar rats were traumatically injured in the brain CA1 region and above the cortex. Next, diffusion tensor magnetic resonance imaging (DTI) and proton magnetic resonance spectroscopy ((1)H MRS) were used to analyze the microstructural and metabolic changes in the brain within the following 2 weeks...
August 31, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28855626/dual-roles-of-a%C3%AE-in-proliferative-processes-in-an-amyloidogenic-model-of-alzheimer-s-disease
#15
David Baglietto-Vargas, Elisabeth Sánchez-Mejias, Victoria Navarro, Sebastián Jimenez, Laura Trujillo-Estrada, Angela Gómez-Arboledas, Maria Sánchez-Mico, Raquel Sánchez-Varo, Marisa Vizuete, José Carlos Dávila, José Manuel García-Verdugo, Javier Vitorica, Antonia Gutierrez
Alzheimer's disease is a major neurodegenerative disorder that leads to severe cognitive deficits in the elderly population. Over the past two decades, multiple studies have focused on elucidating the causative factors underlying memory defects in Alzheimer's patients. In this regard, new evidence linking Alzheimer's disease-related pathology and neuronal stem cells suggests that hippocampal neurogenesis impairment is an important factor underlying these cognitive deficits. However, because of conflicting results, the impact of Aβ pathology on neurogenesis/gliogenesis remains unclear...
August 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28853695/paradoxical-results-obtained-with-ki67-labeling-and-phh3-mitosis-index-in-glial-tumors-a-literature-analysis
#16
İlhan Elmaci, Meric A Altinoz, Fatih Han Bolukbasi, Ozlem Yapicier, Aydin Sav
Precise tiered tumor grading is essential for predicting prognosis, selecting different treatment options and for follow-up of brain tumor patients. Ki67 labeling index (LI) is widely employed in assessing aggressiveness of glial brain tumors. However, Ki67 is subject to interlaboratory variability, and its antigen is expressed on all cell cycle phases except G0, which hinders its usage as a precise criterion for assessing cell proliferation. Indeed, there exist peculiar observations pertinent to increases of Ki67 index in glial tumors following radiotherapy or treatment with tyrosine kinase inhibitors...
August 30, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/28853308/insulin-suppresses-mpp-induced-neurotoxicity-by-targeting-integrins-and-syndecans-in-c6-astrocytes
#17
Mahesh Ramalingam, Mi Hyun Cheng, Sung-Jin Kim
Parkinson's disease (PD) is the second most common neurodegenerative disease in the elderly. In central nervous system, astrocytes regulates neuronal function via the modulation of synaptic transmission and plasticity, secretion of growth factors, uptake of neurotransmitters and regulation of extracellular ion concentrations and metabolic support of neurons. Therefore, C6 astroglial cells have been used to study the in vitro PD model induced by 1-methyl-4-phenyl pyridinium (MPP(+)). In this study, pre-treatment of insulin inhibited MPP(+)-induced cell membrane damages on LDH and NO releases, which also inhibited the iNOS and Cox-2 levels...
August 30, 2017: Journal of Receptor and Signal Transduction Research
https://www.readbyqxmd.com/read/28852856/chronic-stress-targets-adult-neurogenesis-preferentially-in-the-suprapyramidal-blade-of-the-rat-dorsal-dentate-gyrus
#18
Nuno D Alves, Patrícia Patrício, Joana S Correia, António Mateus-Pinheiro, Ana R Machado-Santos, Eduardo Loureiro-Campos, Mónica Morais, João M Bessa, Nuno Sousa, Luísa Pinto
The continuous generation of new neurons and glial cells in the adult hippocampal dentate gyrus (DG) represents an important form of adult neuroplasticity, involved in normal brain function and behavior but also associated with the etiopathogenesis and treatment of psychiatric disorders. Despite the large number of studies addressing cell genesis along the septotemporal axis, data on the anatomical gradients of cytogenesis along the DG transverse axis is scarce, especially after exposure to stress. As such, in this study we characterized both basal proliferation and survival of adult-born neural cells along the transverse axis of the rat dorsal DG, and after stress exposure...
August 29, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/28837401/complex-roles-of-myoglianin-in-regulating-adult-performance-and-lifespan
#19
Hrvoje Augustin, Jennifer Adcott, Christopher J H Elliott, Linda Partridge
Myoglianin, the Drosophila homolog of the secreted vertebrate proteins Myostatin and GDF-11, is an important regulator of neuronal modeling, and synapse function and morphology. While Myoglianin suppression during development elicits positive effects on the neuromuscular system, genetic manipulations of myoglianin expression levels have a varied effect on the outcome of performance tests in aging flies. Specifically, Myoglianin preserves jumping ability, has no effect on negative geotaxis, and negatively regulates flight performance in aging flies...
August 24, 2017: Fly
https://www.readbyqxmd.com/read/28836097/animal-models-of-diabetic-retinopathy
#20
REVIEW
Ana Maria Olivares, Kristen Althoff, Gloria Fanghua Chen, Siqi Wu, Margaux A Morrisson, Margaret M DeAngelis, Neena Haider
PURPOSE OF REVIEW: Diabetic retinopathy (DR) is one of the most common complications associated with chronic hyperglycemia seen in patients with diabetes mellitus. While many facets of DR are still not fully understood, animal studies have contributed significantly to understanding the etiology and progression of human DR. This review provides a comprehensive discussion of the induced and genetic DR models in different species and the advantages and disadvantages of each model. RECENT FINDINGS: Rodents are the most commonly used models, though dogs develop the most similar morphological retinal lesions as those seen in humans, and pigs and zebrafish have similar vasculature and retinal structures to humans...
August 24, 2017: Current Diabetes Reports
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