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https://www.readbyqxmd.com/read/28337824/phenotype-genotype-correlations-of-pigo-deficiency-with-variable-phenotypes-from-infantile-lethality-to-mild-learning-difficulties
#1
Junpei Tanigawa, Haruka Mimatsu, Seiji Mizuno, Nobuhiko Okamoto, Daisuke Fukushi, Koji Tominaga, Hiroyuki Kidokoro, Yukako Muramatsu, Eriko Nishi, Shota Nakamura, Daisuke Motooka, Noriko Nomura, Kiyoshi Hayasaka, Tetsuya Niihori, Yoko Aoki, Shin Nabatame, Masahiro Hayakawa, Jun Natsume, Keiichi Ozono, Taroh Kinoshita, Nobuaki Wakamatsu, Yoshiko Murakami
Inherited GPI (glycosylphosphatidylinositol) deficiencies (IGDs), a recently defined group of diseases, show a broad spectrum of symptoms. Hyperphosphatasia mental retardation syndrome, also known as Mabry syndrome, is a type of IGDs. There are at least 26 genes involved in the biosynthesis and transport of GPI anchored proteins; however, IGDs constitute a rare group of diseases and correlations between the spectrum of symptoms and affected genes or the type of mutations have not been shown. Here we report four newly identified and five previously described Japanese families with PIGO (phosphatidylinositol glycan anchor biosynthesis class O) deficiency...
March 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28334793/compound-heterozygous-mutations-in-the-gene-pigp-are-associated-with-early-infantile-epileptic-encephalopathy
#2
Devon L Johnstone, Thi Tuyet-Mai Nguyen, Yoshiko Murakami, Kristin D Kernohan, Martine Tétreault, Claire Goldsmith, Asif Doja, Justin D Wagner, Lijia Huang, Taila Hartley, Anik St-Denis, Françoise le Deist, Jacek Majewski, Dennis E Bulman, Taroh Kinoshita, David A Dyment, Kym M Boycott, Philippe M Campeau
There are over 150 known human proteins which are tethered to the cell surface via glycosylphosphatidylinositol (GPI) anchors. These proteins play a variety of important roles in development, and particularly in neurogenesis. Not surprisingly, mutations in the GPI anchor biosynthesis and remodeling pathway cause a number of developmental disorders. This group of conditions has been termed inherited GPI deficiencies (IGDs), a subgroup of congenital disorders of glycosylation; they present with variable phenotypes, often including seizures, hypotonia and intellectual disability...
March 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28328110/comorbidity-of-internet-gaming-disorder-and-alcohol-use-disorder-a-focus-on-clinical-characteristics-and-gaming-patterns
#3
Euihyeon Na, Hyeseon Lee, Inyoung Choi, Dai-Jin Kim
BACKGROUND AND OBJECTIVES: Although Internet gaming disorder (IGD), which has been considered as a behavioral addiction in DSM-5, shares core features with alcohol use disorder (AUD), there has been minimal research on the clinical implications of the comorbidity between IGD and AUD. The purpose of this study is to investigate clinical psychopathologies and Internet game usage patterns of IGD, AUD, and their comorbid status. METHODS: Participants (n = 1819) completed a cross-sectional web-based survey...
March 22, 2017: American Journal on Addictions
https://www.readbyqxmd.com/read/28326080/characterization-of-the-highly-prevalent-regulatory-cd24-hi-cd38-hi-b-cell-population-in-human-cord-blood
#4
Ana Esteve-Solé, Irene Teixidó, Angela Deyà-Martínez, Jordi Yagüe, Ana M Plaza-Martín, Manel Juan, Laia Alsina
The newborn's immune system must transition from a sterile haploidentical uterus to the world full of antigens. Regulatory B-cells (Breg; broadly defined as CD19(+)CD24(hi)CD38(hi)) are tolerance promoters in the adult immune system. They can inhibit IFN-γ and IL-17 production by T-cells and are essential in different conditions, including pregnancy. Breg have still not been well characterized in umbilical cord blood, where we hypothesize that they are pivotal in the achievement of tolerance. We studied CD19(+)CD24(hi)CD38(hi) Breg in healthy umbilical cord blood (hUCB) compared to healthy peripheral adult blood (hAPB)...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28301967/stepping-back-to-advance-why-igd-needs-an-intensified-debate-instead-of-a-consensus
#5
Thorsten Quandt
Based on their analysis of Internet gaming disorder (IGD) criteria, Kuss, Griffiths, and Pontes (2017) come to the conclusion that the current situation can be described as "chaos and confusion." Their assessment is not an exaggeration. It can be argued that there are even more issues, on logical/definitional and political/social levels: (a) the IGD diagnosis is lacking a well-defined object, (b) the cause and effect cannot be differentiated outside lab conditions, (c) the social and political effects of declaring a social behavior as a disease are worrying, and (d) a rushed diagnosis may construct an addiction with potentially harmful effects on (formerly) healthy populations...
March 17, 2017: Journal of Behavioral Addictions
https://www.readbyqxmd.com/read/28301964/not-good-enough-further-comments-to-the-wording-meaning-and-the-conceptualization-of-internet-gaming-disorder
#6
Elfrid Krossbakken, Ståle Pallesen, Helge Molde, Rune Aune Mentzoni, Turi Reiten Finserås
In their commentary, Kuss, Griffiths, and Pontes (2016) criticize the use of the term "Internet" in the recently proposed diagnosis for Internet Gaming Disorder (IGD) and its use as one of the included diagnostic criteria. We agree with the exclusion of the term "Internet" in the diagnosis, but have some considerations to the comments regarding the nine criteria for IGD. Specifically, we discuss the meaning, the wording, and the importance of the criteria, as well as the importance of distress or functional impairment in the proposed diagnosis...
March 17, 2017: Journal of Behavioral Addictions
https://www.readbyqxmd.com/read/28301963/internet-gaming-disorder-inadequate-diagnostic-criteria-wrapped-in-a-constraining-conceptual-model
#7
Vladan Starcevic
Background and aims The paper "Chaos and confusion in DSM-5 diagnosis of Internet Gaming Disorder: Issues, concerns, and recommendations for clarity in the field" by Kuss, Griffiths, and Pontes (in press) critically examines the DSM-5 diagnostic criteria for Internet gaming disorder (IGD) and addresses the issue of whether IGD should be reconceptualized as gaming disorder, regardless of whether video games are played online or offline. This commentary provides additional critical perspectives on the concept of IGD...
March 17, 2017: Journal of Behavioral Addictions
https://www.readbyqxmd.com/read/28299878/igy-a-key-isotype-in-antibody-evolution
#8
Xiaoying Zhang, Rosaleen A Calvert, Brian J Sutton, Katy A Doré
Immunoglobulin Y (IgY) is central to our understanding of immunoglobulin evolution. It has links to antibodies from the ancestral IgM to the mucosal IgX and IgA, as well as to mammalian serum IgG and IgE. IgY is found in amphibians, birds and reptiles, and as their most abundant serum antibody, is orthologous to mammalian IgG. However, IgY has the same domain architecture as IgM and IgE, lacking a hinge region and comprising four heavy-chain constant domains. The relationship between IgY and the mucosal antibodies IgX and IgA is discussed herein, in particular the question of how IgA could have contributed to the emergence of IgY...
March 16, 2017: Biological Reviews of the Cambridge Philosophical Society
https://www.readbyqxmd.com/read/28265829/a-multicenter-study-of-a-fluorescence-in-situ-hybridization-probe-set-for-diagnosing-high-grade-dysplasia-and-adenocarcinoma-in-barrett-s-esophagus
#9
John M Poneros, Adam S Faye, Emily G Barr Fritcher, Ananda Sen, Sharmila Anandasabapathy, Robert S Bresalier, Norman Marcon, D Kim Turgeon, Henry Appelman, Daniel Normolle, Larry E Morrison, Dean E Brenner, Kevin C Halling
BACKGROUND AND AIMS: Preliminary single-institution data suggest that fluorescence in situ hybridization (FISH) may be useful for detecting high-grade dysplasia (HGD) and esophageal adenocarcinoma (EA) in patients with Barrett's esophagus (BE). This multicenter study aims to validate the measurement of polysomy (gain of at least two loci) by FISH as a way to discriminate degrees of dysplasia in BE specimens. METHODS: Tissue specimens were collected from four different hospitals and read by both the local pathology department ("Site diagnosis") and a single central pathologist ("Review diagnosis") at a separate institution...
March 6, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28264786/response-inhibition-and-internet-gaming-disorder-a-meta-analysis
#10
REVIEW
Evangelia Argyriou, Christopher B Davison, Tayla T C Lee
Previous research has demonstrated that Internet Gaming Disorder (IGD) has multiple negative effects in psychological functioning and health. This makes the identification of its underpinnings, such as response inhibition, essential for the development of relevant interventions that target these core features of the disorder resulting in more effective treatment. Several empirical studies have evaluated the relationship between response inhibition deficits and IGD using neurocognitive tasks, but provided mixed results...
February 24, 2017: Addictive Behaviors
https://www.readbyqxmd.com/read/28264590/motives-for-online-gaming-questionnaire-its-psychometric-properties-and-correlation-with-internet-gaming-disorder-symptoms-among-chinese-people
#11
Anise M S Wu, Mark H C Lai, Shu Yu, Joseph T F Lau, Man-Wai Lei
Background and aims Internet gaming disorder (IGD) imposes a potential public health threat worldwide. Gaming motives are potentially salient factors of IGD, but research on Chinese gaming motives is scarce. This study empirically evaluated the psychometric properties of the Chinese version of the Motives for Online Gaming Questionnaire (C-MOGQ), the first inventory that measures seven different gaming motives applicable to all type of online games. We also investigated the associations between various gaming motives and IGD symptoms among Chinese gamers...
March 6, 2017: Journal of Behavioral Addictions
https://www.readbyqxmd.com/read/28257632/immunomodulatory-constituents-of-human-breast-milk-and-immunity-from-bronchiolitis
#12
Chunyu Li, Yanbo Liu, Yanfang Jiang, Naijun Xu, Jie Lei
BACKGROUND: The mother's immune status can be achieved by genetic and breastfeeding impact descendants of the immune system. The study aimed to determine whether a mother's immune status and breastfeeding practices were related to development of bronchiolitis in her infant. METHODS: The frequency of T, B and natural kill (NK) cells in patients' blood and their mothers' breast milk was determined using flow cytometry. The concentrations of serum and breast milk IgG and IgD in individual patients and healthy control were determined by enzyme-linked immunosorbent assay (ELISA)...
January 14, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28225502/associations-between-prospective-symptom-changes-and-slow-wave-activity-in-patients-with-internet-gaming-disorder-a-resting-state-eeg-study
#13
Yeon Jin Kim, Jun-Young Lee, Sohee Oh, Minkyung Park, Hee Yeon Jung, Bo Kyung Sohn, Sam-Wook Choi, Dai Jin Kim, Jung-Seok Choi
The identification of the predictive factors and biological markers associated with treatment-related changes in the symptoms of Internet gaming disorder (IGD) may provide a better understanding of the pathophysiology underlying this condition. Thus, the present study aimed to identify neurophysiological markers associated with symptom changes in IGD patients and to identify factors that may predict symptom improvements following outpatient treatment with pharmacotherapy. The present study included 20 IGD patients (mean age: 22...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28223410/microbiome-dependent-recombination-shapes-the-host-antibody-repertoire
#14
Alexandra A Mushegian
Secreted IgD concentration depends on the presence of microbiota.
February 21, 2017: Science Signaling
https://www.readbyqxmd.com/read/28222180/pre-existing-neutralizing-antibody-mitigates-b-cell-dysregulation-and-enhances-the-env-specific-antibody-response-in-shiv-infected-rhesus-macaques
#15
Juan Pablo Jaworski, Peter Bryk, Zachary Brower, Bo Zheng, Ann J Hessell, Alexander F Rosenberg, Tong Tong Wu, Ignacio Sanz, Michael C Keefer, Nancy L Haigwood, James J Kobie
Our central hypothesis is that protection against HIV infection will be powerfully influenced by the magnitude and quality of the B cell response. Although sterilizing immunity, mediated by pre-formed abundant and potent antibodies is the ultimate goal for B cell-targeted HIV vaccine strategies, scenarios that fall short of this may still confer beneficial defenses against viremia and disease progression. We evaluated the impact of sub-sterilizing pre-existing neutralizing antibody on the B cell response to SHIV infection...
2017: PloS One
https://www.readbyqxmd.com/read/28197808/age-related-alterations-of-the-cd19-complex-and-memory-b-cells-in-children-with-down-syndrome
#16
Ayse Nazli Seckin, Hulya Ozdemir, Ayca Ceylan, Hasibe Artac
Children with Down syndrome (DS) have a high incidence of recurrent respiratory tract infections, leukaemia and autoimmune disorders, suggesting immune dysfunction. The present study evaluated the role of the CD19 complex and memory B cells in the pathogenesis of immunodeficiency in children with DS. The expression levels (median fluorescein intensity-MFI) of CD19, CD21 and CD81 molecules on the surface of B cells and memory B cell subsets were studied in 37 patients and 39 healthy controls. Twenty-nine of the DS group had congenital cardiac disease...
February 14, 2017: Clinical and Experimental Medicine
https://www.readbyqxmd.com/read/28193454/new-developments-in-brain-research-of-internet-and-gaming-disorder
#17
REVIEW
Aviv Weinstein, Abigail Livny, Abraham Weizman
There is evidence that the neural mechanisms underlying Internet Gaming Disorder (IGD) resemble those of drug addiction. Functional Magnetic Resonance Imaging (fMRI) studies of the resting state and measures of gray matter volume have shown that Internet game playing was associated with changes to brain regions responsible for attention and control, impulse control, motor function, emotional regulation, sensory-motor coordination. Furthermore, Internet game playing was associated with lower white matter density in brain regions that are involved in decision-making, behavioral inhibition and emotional regulation...
February 11, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28185244/back-cover-eur-j-immunol-2-17
#18
(no author information available yet)
Our back cover features an immunohistological staining of a splenic B-cell follicle (IgM green, IgD blue and MOMA-1 red) in Rag2(-/-) mice reconstituted with pro-B cells propagated in vitro. The image is taken from von Muenchow et al. (pp. 394-405), who describe the long-term propagation of pro-B cells in stromal cell-free cultures. This novel culture method will allow studying B-cell development in much greater detail and might also have clinical implications.
February 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/28174127/altered-functional-connectivity-in-default-mode-network-in-internet-gaming-disorder-influence-of-childhood-adhd
#19
Deokjong Lee, Junghan Lee, Jung Eun Lee, Young-Chul Jung
OBJECTIVE: Internet gaming disorder (IGD) is a type of behavioral addiction characterized by abnormal executive control, leading to loss of control over excessive gaming. Attention deficit and hyperactivity disorder (ADHD) is one of the most common comorbid disorders in IGD, involving delayed development of the executive control system, which could predispose individuals to gaming addiction. We investigated the influence of childhood ADHD on neural network features of IGD. METHODS: Resting-state functional magnetic resonance imaging analysis was performed on 44 young, male IGD subjects with and without childhood ADHD and 19 age-matched, healthy male controls...
April 3, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28152189/effectiveness-of-brief-abstinence-for-modifying-problematic-internet-gaming-cognitions-and-behaviors
#20
Daniel L King, Dean Kaptsis, Paul H Delfabbro, Michael Gradisar
This pilot study tested the efficacy of a voluntary 84-hour abstinence protocol for modifying problematic Internet gaming cognitions and behaviors METHOD: Twenty-four adults from online gaming communities, including 9 individuals who screened positively for Internet gaming disorder (IGD), abstained from Internet games for 84 hours. Surveys were collected at baseline, at daily intervals during abstinence, and at 7-day and 28-day follow-up RESULTS: Brief voluntary abstinence was successful in reducing hours of gaming, maladaptive gaming cognitions, and IGD symptoms...
February 2, 2017: Journal of Clinical Psychology
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