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https://www.readbyqxmd.com/read/28635951/new-insights-into-the-imprinted-meg8-dmr-in-14q32-and-clinical-and-molecular-description-of-novel-patients-with-temple-syndrome
#1
Jasmin Beygo, Alma Küchler, Gabriele Gillessen-Kaesbach, Beate Albrecht, Jonas Eckle, Thomas Eggermann, Alexandra Gellhaus, Deniz Kanber, Ulrike Kordaß, Hermann-Josef Lüdecke, Sabine Purmann, Eva Rossier, Johannes van de Nes, Ilse M van der Werf, Maren Wenzel, Dagmar Wieczorek, Bernhard Horsthemke, Karin Buiting
The chromosomal region 14q32 contains several imprinted genes, which are expressed either from the paternal (DLK1 and RTL1) or the maternal (MEG3, RTL1as and MEG8) allele only. Imprinted expression of these genes is regulated by two differentially methylated regions (DMRs), the germline DLK1/MEG3 intergenic (IG)-DMR (MEG3/DLK1:IG-DMR) and the somatic MEG3-DMR (MEG3:TSS-DMR), which are methylated on the paternal and unmethylated on the maternal allele. Disruption of imprinting in the 14q32 region results in two clinically distinct imprinting disorders, Temple syndrome (TS14) and Kagami-Ogata syndrome (KOS14)...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28633571/the-role-of-peri-traumatic-stress-and-disruption-distress-in-predicting-symptoms-of-major-depression-following-exposure-to-a-natural-disaster
#2
Caroline J Bell, Joseph M Boden, L John Horwood, Roger T Mulder
OBJECTIVE: Few studies have examined the contribution of specific disaster-related experiences to symptoms of depression. The aims of this study were to do this by examining the roles of peri-traumatic stress and distress due to lingering disaster-related disruption in explaining linkages between disaster exposure and major depressive disorder symptoms among a cohort exposed to the 2010-2011 Canterbury (New Zealand) earthquakes. METHODS: Structural equation models were fitted to data obtained from the Christchurch Health and Development Study at age 35 ( n = 495), 20-24 months following the onset of the disaster...
July 2017: Australian and New Zealand Journal of Psychiatry
https://www.readbyqxmd.com/read/28633048/affective-traits-and-history-of-depression-are-related-to-ventral-striatum-connectivity
#3
Sophie R DelDonno, Lisanne M Jenkins, Natania A Crane, Robin Nusslock, Kelly A Ryan, Stewart A Shankman, K Luan Phan, Scott A Langenecker
INTRODUCTION: Studying remitted Major Depressive Disorder (rMDD) facilitates a better understanding of neural mechanisms for risk, given that confounding effects of active symptoms are removed. Disrupted functional connectivity has been reported in multiple networks in MDD. However, no study to date of rMDD has specifically examined connectivity of the ventral striatum (VS), a region highly implicated in reward and motivation. We investigated functional connectivity of the VS in individuals with and without a history of MDD, and in relation to affective personality traits...
June 15, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28632983/a-descriptive-study-of-a-community-based-home-visiting-program-with-preschool-children-prenatally-exposed-to-alcohol
#4
Ana Hanlon-Dearman, Sayma Malik, Julia Wellwood, Karen Johnston, Holly Gammon, Kathy N Andrew, Breann Maxwell, Sally Longstaffe
BACKGROUND: Research suggests that prenatal alcohol exposure (PAE) and Fetal Alcohol Spectrum Disorder (FASD) increases the risk of insecure caregiver-child attachment and related negative child emotional-behavioural outcomes. Research also shows positive effects of attachment-focused interventions in preventing disrupted caregiver-child attachment relationships; however, such interventions have not been specifically adapted for children with FASD. OBJECTIVES: This paper describes the implementation, challenges, and results of a community home-based attachment intervention, Circle of Security® (COS), with preschool children affected by PAE/FASD in Manitoba, Canada...
June 14, 2017: Journal of Population Therapeutics and Clinical Pharmacology
https://www.readbyqxmd.com/read/28632163/melatonin-as-a-novel-interventional-candidate-for-fragile-x-syndrome-with-autism-spectrum-disorder-in-humans
#5
REVIEW
Jinyoung Won, Yunho Jin, Jeonghyun Choi, Sookyoung Park, Tae Ho Lee, Sang-Rae Lee, Kyu-Tae Chang, Yonggeun Hong
Fragile X syndrome (FXS) is the most common monogenic form of autism spectrum disorder (ASD). FXS with ASD results from the loss of fragile X mental retardation (fmr) gene products, including fragile X mental retardation protein (FMRP), which triggers a variety of physiological and behavioral abnormalities. This disorder is also correlated with clock components underlying behavioral circadian rhythms and, thus, a mutation of the fmr gene can result in disturbed sleep patterns and altered circadian rhythms. As a result, FXS with ASD individuals may experience dysregulation of melatonin synthesis and alterations in melatonin-dependent signaling pathways that can impair vigilance, learning, and memory abilities, and may be linked to autistic behaviors such as abnormal anxiety responses...
June 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28631721/disc1-in-astrocytes-influences-adult-neurogenesis-and-hippocampus-dependent-behaviors-in-mice
#6
Chantelle E Terrillion, Bagrat Abazyan, Zhongxi Yang, Joshua Crawford, Alexey V Shevelkin, Yan Jouroukhin, Ki Hyun Yoo, Chang Hoon Cho, Robin Roychaudhuri, Solomon H Snyder, Mi-Hyeon Jang, Mikhail V Pletnikov
The functional role of genetic variants in glia in the pathogenesis of psychiatric disorders remains poorly studied. Disrupted-In-Schizophrenia 1 (DISC1), a genetic risk factor implicated in major mental disorders, has been implicated in regulation of astrocyte functions. As both astrocytes and DISC1 influence adult neurogenesis in the dentate gyrus (DG) of the hippocampus, we hypothesized that selective expression of dominant-negative C-terminus truncated human DISC1 (mutant DISC1) in astrocytes would affect adult hippocampal neurogenesis and hippocampus-dependent behaviors...
June 20, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28631016/new-insights-into-cohesin-loading
#7
REVIEW
Ireneusz Litwin, Robert Wysocki
Cohesin is a conserved, ring-shaped protein complex that encircles sister chromatids and ensures correct chromosome segregation during mitosis and meiosis. It also plays a crucial role in the regulation of gene expression, DNA condensation, and DNA repair through both non-homologous end joining and homologous recombination. Cohesins are spatiotemporally regulated by the Scc2-Scc4 complex which facilitates cohesin loading onto chromatin at specific chromosomal sites. Over the last few years, much attention has been paid to cohesin and cohesin loader as it became clear that even minor disruptions of these complexes may lead to developmental disorders and cancers...
June 19, 2017: Current Genetics
https://www.readbyqxmd.com/read/28631009/methods-of-probing-the-interactions-between-small-molecules-and-disordered-proteins
#8
REVIEW
Gabriella T Heller, Francesco A Aprile, Michele Vendruscolo
It is generally recognized that a large fraction of the human proteome is made up of proteins that remain disordered in their native states. Despite the fact that such proteins play key biological roles and are involved in many major human diseases, they still represent challenging targets for drug discovery. A major bottleneck for the identification of compounds capable of interacting with these proteins and modulating their disease-promoting behaviour is the development of effective techniques to probe such interactions...
June 19, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28631008/regulation-of-neural-circuit-formation-by-protocadherins
#9
REVIEW
Stacey L Peek, Kar Men Mah, Joshua A Weiner
The protocadherins (Pcdhs), which make up the most diverse group within the cadherin superfamily, were first discovered in the early 1990s. Data implicating the Pcdhs, including ~60 proteins encoded by the tandem Pcdha, Pcdhb, and Pcdhg gene clusters and another ~10 non-clustered Pcdhs, in the regulation of neural development have continually accumulated, with a significant expansion of the field over the past decade. Here, we review the many roles played by clustered and non-clustered Pcdhs in multiple steps important for the formation and function of neural circuits, including dendrite arborization, axon outgrowth and targeting, synaptogenesis, and synapse elimination...
June 19, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28630456/rare-disruptive-variants-in-the-disc1-interactome-and-regulome-association-with-cognitive-ability-and-schizophrenia
#10
S Teng, P A Thomson, S McCarthy, M Kramer, S Muller, J Lihm, S Morris, D C Soares, W Hennah, S Harris, L M Camargo, V Malkov, A M McIntosh, J K Millar, D H Blackwood, K L Evans, I J Deary, D J Porteous, W R McCombie
Schizophrenia (SCZ), bipolar disorder (BD) and recurrent major depressive disorder (rMDD) are common psychiatric illnesses. All have been associated with lower cognitive ability, and show evidence of genetic overlap and substantial evidence of pleiotropy with cognitive function and neuroticism. Disrupted in schizophrenia 1 (DISC1) protein directly interacts with a large set of proteins (DISC1 Interactome) that are involved in brain development and signaling. Modulation of DISC1 expression alters the expression of a circumscribed set of genes (DISC1 Regulome) that are also implicated in brain biology and disorder...
June 20, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28629418/prenatal-brain-disruption-in-isolated-sulfite-oxidase-deficiency
#11
Hsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren Tsai, Hung-Chieh Chen, I-Chun Lee
BACKGROUND: Isolated sulfite oxidase deficiency (ISOD) is a very rare autosomal recessive inherited neurometabolic disease. The most striking postnatal neuroimaging finding is multicystic encephalomalacia, which occurs rapidly within days to weeks after birth and mimics severe hypoxic-ischemic encephalopathy. The aim of this study was to describe the prenatal neuroimaging features in a neonate and a fetus diagnosed with ISOD. RESULTS: We report an 11-day-old female neonate who presented with feeding difficulties, decreased activity, neonatal seizures, and movement disorders within a few days after birth...
June 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28629225/cortical-plasticity-in-depression
#12
Mariagiovanna Cantone, Alessia Bramanti, Giuseppe Lanza, Manuela Pennisi, Placido Bramanti, Giovanni Pennisi, Rita Bella
Neural plasticity is considered the neurophysiological correlate of learning and memory, although several studies have also noted that it plays crucial roles in a number of neurological and psychiatric diseases. Indeed, impaired brain plasticity may be one of the pathophysiological mechanisms that underlies both cognitive decline and major depression. Moreover, a degree of cognitive impairment is frequently observed throughout the clinical spectrum of mood disorders, and the relationship between depression and cognition is often bidirectional...
May 2017: ASN Neuro
https://www.readbyqxmd.com/read/28626982/vaginal-seeding-or-vaginal-microbial-transfer-from-the-mother-to-the-cesarean-born-neonate-a-commentary-regarding-clinical-management
#13
Thor Haahr, Julie Glavind, Paul Axelsson, Margit Bistrup Fischer, Johanna Bjurström, Gudbjörg Andrésdóttir, Dorte Teilmann-Jørgensen, Ulla Bonde, Nina Olsén Sørensen, Margrethe Møller, Jens Fuglsang, Per G Ovesen, Jesper P Petersen, Jakob Stokholm, Tine D Clausen
Recent evidence suggests cesarean delivery (CD) to be a risk factor for inflammatory and metabolic diseases such as asthma, allergies and other chronic immune disorders in the child. One hypothetical pathogenesis of these associations has been proposed to be a disruption of the neonatal colonization (NC) after CD. To further support this hypothesis, it has been observed that the effect of CD on NC was different according to type of CD, i.e. planned or emergency, and that the risk of asthma in children born by CD was mitigated by rupture of membranes, though still increased compared to children delivered vaginally...
June 18, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28626499/the-effects-of-blast-exposure-on-protein-deimination-in-the-brain
#14
Peter J Attilio, Michael Flora, Alaa Kamnaksh, Donald J Bradshaw, Denes Agoston, Gregory P Mueller
Oxidative stress and calcium excitotoxicity are hallmarks of traumatic brain injury (TBI). While these early disruptions may be corrected over a relatively short period of time, long-lasting consequences of TBI including impaired cognition and mood imbalances can persist for years, even in the absence of any evidence of overt injury based on neuroimaging. This investigation examined the possibility that disordered protein deimination occurs as a result of TBI and may thus contribute to the long-term pathologies of TBI...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28625231/you-ll-feel-better-in-the-morning-slow-wave-activity-and-overnight-mood-regulation-in-interepisode-bipolar-disorder
#15
A M Soehner, K A Kaplan, J M Saletin, L S Talbot, I S Hairston, J Gruber, P Eidelman, M P Walker, A G Harvey
BACKGROUND: Sleep disturbances are prominent correlates of acute mood episodes and inadequate recovery in bipolar disorder (BD), yet the mechanistic relationship between sleep physiology and mood remains poorly understood. Using a series of pre-sleep mood inductions and overnight sleep recording, this study examined the relationship between overnight mood regulation and a marker of sleep intensity (non-rapid eye movement sleep slow wave activity; NREM SWA) during the interepisode phase of BD...
June 19, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28624907/dityrosine-administration-induces-dysfunction-of-insulin-secretion-accompanied-by-diminished-thyroid-hormones-t3-function-in-pancreas-of-mice
#16
Yin-Yi Ding, Zhu-Qing Li, Xiang-Rong Cheng, Yu-Mei Ran, Sha-Ji Wu, Yonghui Shi, Guowei Le
Oxidized tyrosine products are commonly found in food with high protein content and have been demonstrated to cause damage of liver and kidney in our previous studies. Dityrosine (Dityr) is a typical oxidized tyrosine product. Due to its structural homology with thyroid hormones T3, we assumed that one of the endocrine systems most likely considered in connection with its disruption by Dityr may be the T3 action. T3 plays important roles in insulin synthesis, and thyroid hormone resistance (RTH) is associated with the impairment of glucose metabolism...
June 17, 2017: Amino Acids
https://www.readbyqxmd.com/read/28623313/inhibition-of-calpains-protects-mn-induced-neurotransmitter-release-disorders-in-synaptosomes-from-mice-involvement-of-snare-complex-and-synaptic-vesicle-fusion
#17
Can Wang, Bin Xu, Zhuo Ma, Chang Liu, Yu Deng, Wei Liu, Zhao-Fa Xu
Overexposure to manganese (Mn) could disrupt neurotransmitter release via influencing the formation of SNARE complex, but the underlying mechanisms are still unclear. A previous study demonstrated that SNAP-25 is one of substrate of calpains. The current study investigated whether calpains were involved in Mn-induced disorder of SNARE complex. After mice were treated with Mn for 24 days, Mn deposition increased significantly in basal nuclei in Mn-treated and calpeptin pre-treated groups. Behaviorally, less time spent in the center of the area and decreased average velocity significantly in an open field test after 24 days of Mn exposure...
June 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28622552/fornix-microalterations-associated-with-early-trauma-in-panic-disorder
#18
Seung-Taek Yu, Kang-Soo Lee, Sang-Hyuk Lee
BACKGROUND: It is well accepted that panic disorder (PD) is associated with early trauma, and that the limbic systems are one of the main structures involved in PD pathophysiology. However, previous studies have not addressed the relationship between early trauma and major limbic white-matter (WM) structures in PD. METHODS: Participants enrolled in the study consisted of 53 right-handed patients with PD and 21 healthy controls (HC). The Early Trauma Inventory Self Report-Short Form (ETISR-SF), Anxiety Sensitivity Inventory-Revised (ASI-R), and the Albany Panic and Phobia Questionnaire (APPQ) were applied in the study...
May 30, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28621423/roles-of-the-cilium-associated-gene-ccdc11-in-left-right-patterning-and-in-laterality-disorders-in-humans
#19
Michal Gur, Enbal Ben-Tal Cohen, Olga Genin, Abraham Fainsod, Zeev Perles, Yuval Cinnamon
Axial determination occurs during early stages of embryogenesis. Flaws in laterality patterning result in abnormal positioning of visceral organs, as manifested in heterotaxy syndrome, or complete left-right inversion as in situs inversus totalis. These malformations are often associated with ciliopathies, as seen in primary ciliary dyskinesia. We have recently described a novel mutation in the Coiled-Coil Domain-Containing 11 (CCDC11) gene associated with laterality disorders in a consanguineous family of Arab-Muslim origin with two affected siblings presenting with diverse phenotypes, one with heterotaxy syndrome and the other with non-primary ciliary dyskinesia situs inversus totalis...
2017: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/28620497/painful-ovulation-in-a-46-xx-sry-ve-adult-male-with-sox9-duplication
#20
Nandini Shankara Narayana, Anne-Maree Kean, Lisa Ewans, Thomas Ohnesorg, Katie L Ayers, Geoff Watson, Arthur Vasilaras, Andrew H Sinclair, Stephen M Twigg, David J Handelsman
46,XX disorders of sexual development (DSDs) occur rarely and result from disruptions of the genetic pathways underlying gonadal development and differentiation. We present a case of a young phenotypic male with 46,XX SRY-negative ovotesticular DSD resulting from a duplication upstream of SOX9 presenting with a painful testicular mass resulting from ovulation into an ovotestis. We present a literature review of ovulation in phenotypic men and discuss the role of SRY and SOX9 in testicular development, including the role of SOX9 upstream enhancer region duplication in female-to-male sex reversal...
2017: Endocrinology, Diabetes & Metabolism Case Reports
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