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https://www.readbyqxmd.com/read/28641396/geneticization-in-mim-omim%C3%A2-exploring-historic-and-epistemic-drivers-of-contemporary-understandings-of-genetic-disease
#1
Rachel A Ankeny
Prior to the genomic sequencing era, the bible for those working in clinical genetics was McKusick's Mendelian Inheritance in Man (MIM), which appeared in multiple editions between the 1960s and the late 1990s. This catalogue was organized according to general patterns of inheritance and focused on phenotypes. Beginning in the mid-1980s, it was replaced by Online Mendelian Inheritance in Man (OMIM®), a continuously updated catalogue documenting molecular relationships between genetic variation and phenotypic expression...
June 21, 2017: Journal of Medicine and Philosophy
https://www.readbyqxmd.com/read/28641389/acute-tryptophan-depletion-the-first-method-validation-in-an-avian-species-gallus-gallus-domesticus
#2
Patrick Birkl, Joergen B Kjaer, William Szkotnicki, Paul Forsythe, Alexandra Harlander-Matauschek
Acute tryptophan depletion (ATD) is a valuable non-invasive nutritional tool in human and rodent research to study dysfunctions of the serotonergic system and related behavioral disorders. Serotonergic dysfunction is thought to be involved in the pathology of feather pecking behavior of laying hens, one of the most relevant welfare and production issues in modern intensive egg-production systems. ATD temporarily compromises the influx of tryptophan (TRP) across the blood brain barrier which reduces central availability of TRP, the substrate for serotonin (5-HT) synthesis...
June 21, 2017: Poultry Science
https://www.readbyqxmd.com/read/28641386/the-neurosteroid-pregnenolone-reverts-microtubule-derangement-induced-by-the-loss-of-a-functional-cdkl5-iqgap1-complex
#3
Isabella Barbiero, Diana Peroni, Marco Tramarin, Chetan Chandola, Laura Rusconi, Nicoletta Landsberger, Charlotte Kilstrup-Nielsen
CDKL5 is a protein kinase that plays a key role for neuronal functions as testified by the onset of complex neuronal dysfunctions in patients with genetic lesions in CDKL5. Here we identify a novel interactor of CDKL5, IQGAP1, a fundamental regulator of cell migration and polarity. In accordance with a functional role of this interaction, depletion of CDKL5 impairs cell migration and impedes the localization of IQGAP1 at the leading edge. Moreover, we demonstrate that CDKL5 is required for IQGAP1 to form a functional complex with its effectors, Rac1 and the microtubule plus end tracking protein CLIP170...
June 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28641374/intergenerational-socioeconomic-mobility-and-adult-depression-the-constances-study
#4
Maria Melchior, Abdelkrim Ziad, Emilie Courtin, Marcel Goldberg, Marie Zins, Judith van der Waerden
Socioeconomic mobility from childhood onwards may predict depression risk in adulthood. Using data from the nationally representative CONSTANCES study in France (2012-2014, n = 67,057), we assessed the relationship between intergenerational socioeconomic mobility and adult depression (Center for Epidemiological Studies-Depression scale, > = 16 in men, > = 20 in women) and antidepressant use. Socioeconomic position was ascertained by occupational grade (childhood: maternal and paternal measures prior to age 15 years combined; adult: participant own)...
June 21, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28641361/maternal-alcohol-use-disorder-and-risk-of-child-contact-with-the-justice-system-in-western-australia-a-population-cohort-record-linkage-study
#5
Katherine Hafekost, David Lawrence, Colleen O'Leary, Carol Bower, James Semmens, Stephen R Zubrick
BACKGROUND: Early contact with the justice system is associated with a multitude of negative outcomes across the life course. This includes an increased risk of ongoing justice contact, social disadvantage and marginalization, and mental health and substance use issues. Children whose mothers have an alcohol use disorder may be at risk of early justice system contact, and we sought to quantify this relationship in a Western Australian cohort. METHODS: This population cohort study made use of linked administrative data...
June 22, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28641356/-tracheal-surgery
#6
Jan Volmerig, Erich Hecker
Surgery of the trachea is a specialised field in which many disciplines work jointly due to the variety of indications and the extended topography. Not only because of its particular functional importance, but also because of its complex morphology, anatomy and physiology, this organ represents a special therapeutic challenge. A variety of diseases require surgical procedures of the trachea; the therapeutic strategy is influenced both by the disease itself as well as patient-dependent parameters. Regardless of the nature of the underlying disorder, good results require a high level of expertise in airway management, a careful diagnosis and interventional planning as well as an experienced surgical team that masters extended operative techniques...
June 2017: Zentralblatt Für Chirurgie
https://www.readbyqxmd.com/read/28641333/validation-of-brain-angiotensin-system-blockade-as-a-novel-drug-target-in-pharmacological-treatment-of-neuropsychiatric-disorders
#7
Dominik Wincewicz, Jan J Braszko
Retreat in psychiatric drug development results in innovative medication decline that might be at least partially overcome by adjunct therapy. New evidence from clinical studies has shown a possible role for brain Renin-Angiotensin System (RAS) in both affective and psychotic disorders. Simultaneously, rapidly accumulating data from basic studies indicate effectiveness of central RAS blockade in much broader range of neuropsychiatric disease. Recent findings implicate brain RAS, especially Angiotensin II (Ang II), in neural pathophysiology of mental disorders through neuroendocrine modulation and effects on neurotransmitter release, mostly noradrenaline, acetylcholine and dopamine...
June 22, 2017: Pharmacopsychiatry
https://www.readbyqxmd.com/read/28641217/the-aggressor-at-the-mirror-psychiatric-correlates-of-deliberate-self-harm-in-male-prison-inmates
#8
N Verdolini, A Murru, L Attademo, R Garinella, I Pacchiarotti, C Del Mar Bonnin, L Samalin, L Pauselli, M Piselli, A Tamantini, R Quartesan, A F Carvalho, E Vieta, A Tortorella
BACKGROUND: Deliberate self-harm (DSH) causes important concern in prison inmates as it worsens morbidity and increases the risk for suicide. The aim of the present study is to investigate the prevalence and correlates of DSH in a large sample of male prisoners. METHODS: A cross-sectional study evaluated male prisoners aged 18+ years. Current and lifetime psychiatric diagnoses were assessed with the Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders - DSM-IV Axis I and Axis II Disorders and with the Addiction Severity Index-Expanded Version...
April 14, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/28641215/worry-and-cognitive-control-predict-course-trajectories-of-anxiety-in-older-adults-with-late-life-depression
#9
P Spinhoven, D C van der Veen, R C Oude Voshaar, H C Comijs
BACKGROUND: Many older adults with depressive disorder manifest anxious distress. This longitudinal study examines the predictive value of worry as a maladaptive cognitive emotion regulation strategy, and resources necessary for successful emotion regulation (i.e., cognitive control and resting heart rate variability [HRV]) for the course of anxiety symptoms in depressed older adults. Moreover, it examines whether these emotion regulation variables moderate the impact of negative life events on severity of anxiety symptoms...
May 19, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/28641177/a-30-year-history-of-mpan-case-from-russia
#10
M Selikhova, E Fedotova, S Wiethoff, L V Schottlaender, S Klyushnikov, S N Illarioshkin, H Houlden
We present a patient with progressive spastic ataxia, with dystonia and anarthria undiagnosed until detailed genetic analysis revealed an MPAN mutation. Highlighting the worldwide MPAN distribution, a 30year history of absent diagnosis and the impact and cost saving of an early but detailed genetic analysis in complex progressive movement disorders, particularly the anarthric NBIA group.
June 2, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28641168/aicardi-syndrome-and-cognitive-abilities-a-report-of-five-cases
#11
Mia Tuft, Ylva Østby, Karl O Nakken, Caroline Lund
Aicardi syndrome is a rare neurodevelopmental disorder with agenesis of corpus callosum, chorioretinal lacunae, and infantile spasms as the main features. The outcome is in general severe, with poor cognitive development and difficult-to-treat epilepsy. In this study, we assessed the level of cognitive function of five girls with Aicardi syndrome, using normed population based tests and questionnaires. Their cognitive abilities varied from mild to profound intellectual disabilities. The more severe the epilepsy, the poorer were the cognitive skills...
June 19, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28641164/protective-effects-of-flavonoids-against-alzheimer-s-disease-related-neural-dysfunctions
#12
REVIEW
Mahsa Bakhtiari, Yunes Panahi, Javad Ameli, Behrad Darvishi
Senile ages of human life is mostly associated with developmental of several neurological complicated conditions including decreased cognition and reasoning, increased memory loss and impaired language performance. Alzheimer's disease (AD) is the most prevalent neural disorder associated with dementia, consisting of about 70% of dementia reported cases. Failure of currently approved chemical anti-AD therapeutic agents has once again brought up the idea of administering naturally occurring compounds as effective alternative and/or complementary regimens in AD treatment...
June 19, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28641149/thyroid-autoimmunity-in-bipolar-disorder-a-systematic-review
#13
REVIEW
Margherita Barbuti, André F Carvalho, Cristiano A Köhler, Andrea Murru, Norma Verdolini, Giovanni Guiso, Ludovic Samalin, Michael Maes, Brendon Stubbs, Giulio Perugi, Eduard Vieta, Isabella Pacchiarotti
BACKGROUND: Accumulating evidence points to the pathophysiological relevance between immune dysfunction and mood disorders. High rates of thyroid dysfunction have been found in patients with bipolar disorder (BD), compared to the general population. A systematic review of the relationship between BD and thyroid autoimmunity was performed. METHODS: Pubmed, EMBASE and PsycINFO databases were searched up till January 28th, 2017. This review has been conducted according to the PRISMA statements...
June 13, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28641148/non-suicidal-self-injury-and-suicide-attempts-in-a-new-zealand-birth-cohort
#14
Daniel D L Coppersmith, Shyamala Nada-Raja, Annette L Beautrais
BACKGROUND: Non-suicidal self-injury (NSSI) and suicide attempts are related, but distinct behaviors. The primary aim of the current study was to identify factors that distinguish those with different lifetime histories of self-injury. A secondary aim was to test whether lifetime history of self-injury at age 26 predicted current suicide ideation at age 32. METHODS: Participants were 26 year olds from a large birth cohort with a lifetime history of no self-injury (n = 466), a lifetime history of NSSI (n = 191), or a lifetime history of NSSI and a suicide attempt (NSSI+SA; n = 52)...
June 15, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28641131/children-s-brain-activation-during-risky-decision-making-a-contributor-to-substance-problems
#15
Thomas J Crowley, Manish S Dalwani, Joseph T Sakai, Kristen M Raymond, Shannon K McWilliams, Marie T Banich, Susan K Mikulich-Gilbertson
OBJECTIVE: Among young children excessive externalizing behaviors often predict adolescent conduct and substance use disorders. Adolescents with those disorders show aberrant brain function when choosing between risky or cautious options. We therefore asked whether similarly aberrant brain function during risky decision-making accompanies excessive externalizing behaviors among children, hypothesizing an association between externalizing severity and regional intensity of brain activation during risky decision-making...
June 4, 2017: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/28641122/working-with-parents-to-treat-anxiety-disordered-children-a-proof-of-concept-rct-evaluating-fear-less-triple-p
#16
Vanessa E Cobham, Ania Filus, Matthew R Sanders
Little is known about the efficacy of parent-only interventions and the maintenance of gains over time with anxiety-disordered children and adolescents. The current study aimed to evaluate the efficacy of a 6-session parent-focused intervention (Fear-less Triple P) in reducing children's anxiety symptomatology. The parents of 61 anxiety-disordered children (7-14 years) were randomly assigned to either the 6-session parent-only group CBT intervention or a wait-list control (WL) group. Diagnostic and questionnaire measures were administered at post-treatment; as well as 3-, 6- and 12 months following the completion of treatment...
June 15, 2017: Behaviour Research and Therapy
https://www.readbyqxmd.com/read/28641109/rare-copy-number-variants-in-nrxn1-and-cntn6-increase-risk-for-tourette-syndrome
#17
Alden Y Huang, Dongmei Yu, Lea K Davis, Jae Hoon Sul, Fotis Tsetsos, Vasily Ramensky, Ivette Zelaya, Eliana Marisa Ramos, Lisa Osiecki, Jason A Chen, Lauren M McGrath, Cornelia Illmann, Paul Sandor, Cathy L Barr, Marco Grados, Harvey S Singer, Markus M Nöthen, Johannes Hebebrand, Robert A King, Yves Dion, Guy Rouleau, Cathy L Budman, Christel Depienne, Yulia Worbe, Andreas Hartmann, Kirsten R Müller-Vahl, Manfred Stuhrmann, Harald Aschauer, Mara Stamenkovic, Monika Schloegelhofer, Anastasios Konstantinidis, Gholson J Lyon, William M McMahon, Csaba Barta, Zsanett Tarnok, Peter Nagy, James R Batterson, Renata Rizzo, Danielle C Cath, Tomasz Wolanczyk, Cheston Berlin, Irene A Malaty, Michael S Okun, Douglas W Woods, Elliott Rees, Carlos N Pato, Michele T Pato, James A Knowles, Danielle Posthuma, David L Pauls, Nancy J Cox, Benjamin M Neale, Nelson B Freimer, Peristera Paschou, Carol A Mathews, Jeremiah M Scharf, Giovanni Coppola
Tourette syndrome (TS) is a model neuropsychiatric disorder thought to arise from abnormal development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly heritable, but its underlying genetic causes are still elusive, and no genome-wide significant loci have been discovered to date. We analyzed a European ancestry sample of 2,434 TS cases and 4,093 ancestry-matched controls for rare (< 1% frequency) copy-number variants (CNVs) using SNP microarray data. We observed an enrichment of global CNV burden that was prominent for large (> 1 Mb), singleton events (OR = 2...
June 21, 2017: Neuron
https://www.readbyqxmd.com/read/28641093/hematological-parameters-and-red-blood-cell-morphological-abnormality-of-glucose-6-phosphate-dehydrogenase-deficiency-co-inherited-with-thalassemia
#18
Jutharat Pengon, Saovaros Svasti, Sumalee Kamchonwongpaisan, Phantip Vattanaviboon
OBJECTIVE/BACKGROUND: Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and thalassemia are genetically independent hemolytic disorders. Co-inheritance of both disorders may affect red blood cell pathology to a greater extent than normally seen in either disorder alone. This study determines the prevalence and evaluates hematological changes of G-6-PD deficiency and thalassemia co-inheritance. METHODS: G-6-PD deficiency was screened from 200 male thalassemia blood samples using a fluorescent spot test...
June 15, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28641068/centric-relation-intercuspal-position-discrepancy-and-its-relationship-with-temporomandibular-disorders-a-systematic-review
#19
Antonio Jiménez-Silva, Julio Tobar-Reyes, Sheilah Vivanco-Coke, Eduardo Pastén-Castro, Hernán Palomino-Montenegro
OBJECTIVE: The objective of this study is to assess the relationship between centric relation-intercuspal position discrepancy (CR-ICP discrepancy) and temporomandibular disorders (TMDs), by systematically reviewing the literature. MATERIALS AND METHODS: A systematic research was performed between 1960 and 2016 based on electronic databases: PubMed, Cochrane Library, Medline, Embase, Scopus, EBSCOhost, BIREME, Lilacs and Scielo, including all languages. Analytical observational clinical studies were identified...
June 22, 2017: Acta Odontologica Scandinavica
https://www.readbyqxmd.com/read/28641067/noggle-c-dean-r-macneill-horton-a-jr-eds-2012-the-encyclopedia-of-neuropsychological-disorders
#20
John Dsurney
No abstract text is available yet for this article.
June 22, 2017: Applied Neuropsychology. Adult
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