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Genetic OR biological psychiatry

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https://www.readbyqxmd.com/read/29153020/-williams-beuren-syndrome-williams-syndrome-case-report
#1
Györgyi Miklós, György Fekete, Irén Haltrich, Miklós Tóth, Péter Reismann
Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29150144/atypical-depression-and-non-atypical-depression-is-hpa-axis-function-a-biomarker-a-systematic-review
#2
REVIEW
Mario F Juruena, Mariia Bocharova, Bruno Agustini, Allan H Young
BACKGROUND: The link between the abnormalities of the Hypothalamic-pituitary-adrenal (HPA) axis and depression has been one of the most consistently reported findings in psychiatry. At the same time, multiple studies have demonstrated a stronger association between the increased activation of HPA-axis and melancholic, or endogenous depression subtype. This association has not been confirmed for the atypical subtype, and some researchers have suggested that as an antinomic depressive subtype, it may be associated with the opposite type, i...
October 6, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29144157/the-influence-of-sunlight-exposure-on-hospitalization-in-emergency-psychiatry
#3
Andrea Aguglia, Antonio Borsotti, Francesco Cuniberti, Gianluca Serafini, Mario Amore, Giuseppe Maina
OBJECTIVE: Environmental conditions during early life may affect individual vulnerability to both physiological changes as well as psychiatric conditions, especially in those with a genetic susceptibility. Among all factors, sunlight exposure intensity has a crucial effect on affecting circadian functions high-risk individuals. A potential explanation of this relation is that excessive sunlight exposure is able to impair biological mechanisms, possibly through the dysregulation of serotonin and/or melatonin production/metabolism...
November 16, 2017: Chronobiology International
https://www.readbyqxmd.com/read/29143597/genotypic-and-phenotypic-features-of-all-spanish-patients-with-mcardle-disease-a-2016-update
#4
Alfredo Santalla, Gisela Nogales-Gadea, Alberto Blázquez Encinar, Irene Vieitez, Adrian González-Quintana, Pablo Serrano-Lorenzo, Inés García Consuegra, Sara Asensio, Alfonsina Ballester-Lopez, Guillem Pintos-Morell, Jaume Coll-Cantí, Helios Pareja-Galeano, Jorge Díez-Bermejo, Margarita Pérez, Antoni L Andreu, Tomàs Pinós, Joaquín Arenas, Miguel A Martín, Alejandro Lucia
BACKGROUND: We recently described the genotype/phenotype features of all Spanish patients diagnosed with McArdle disease as of January 2011 (n = 239, prevalence of ~1/167,000) (J Neurol Neurosurg Psychiatry 2012;83:322-8). Several caveats were however identified suggesting that the prevalence of the disease is actually higher. METHODS: We have now updated main genotype/phenotype data, as well as potential associations within/between them, of all Spanish individuals currently diagnosed with McArdle disease (December 2016)...
November 14, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29133949/a-total-population-multigenerational-family-clustering-study-of-autoimmune-diseases-in-obsessive-compulsive-disorder-and-tourette-s-chronic-tic-disorders
#5
D Mataix-Cols, E Frans, A Pérez-Vigil, R Kuja-Halkola, C Gromark, K Isomura, L Fernández de la Cruz, E Serlachius, J F Leckman, J J Crowley, C Rück, C Almqvist, P Lichtenstein, H Larsson
The association between obsessive-compulsive disorder (OCD) and Tourette's/chronic tic disorders (TD/CTD) with autoimmune diseases (ADs) is uncertain. In this nationwide study, we sought to clarify the patterns of comorbidity and familial clustering of a broad range of ADs in individuals with OCD, individuals with TD/CTD and their biological relatives. From a birth cohort of 7 465 455 individuals born in Sweden between 1940 and 2007, we identified 30 082 OCD and 7279 TD/CTD cases in the National Patient Register and followed them up to 31 December 2013...
November 14, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29117606/-the-dawn-of-modernity-giovanni-boccaccio-s-the-decameron-and-the-tradition-of-genetic-understanding
#6
Moritz Eric Wigand, Felicitas Petra Söhner, Markus Jäger, Thomas Becker, Hauke Felix Wiegand
"The Decameron" by Giovanni Boccaccio is a work which stands between the Middle Ages and Modernity. There are theories which postulate that concepts of identity and individuality, which arose with the dawn of Modernity, have an influence on mental illness. We chose a hermeneutic approach towards "The Decameron" to analyse the depiction of a changing society, of love, mental suffering and the role of therapeutic interventions. We conclude that Boccaccio showed an interest in intrapsychic mechanisms, an idea pertaining to Modernity, and discuss this idea in light of today's psychiatry and Karl Jaspers' concept of "genetic understanding"...
November 8, 2017: Fortschritte der Neurologie-Psychiatrie
https://www.readbyqxmd.com/read/29112198/co-aggregation-of-major-psychiatric-disorders-in-individuals-with-first-degree-relatives-with-schizophrenia-a-nationwide-population-based-study
#7
C-M Cheng, W-H Chang, M-H Chen, C-F Tsai, T-P Su, C-T Li, S-J Tsai, J-W Hsu, K-L Huang, W-C Lin, T-J Chen, Y-M Bai
A previous genetic study has suggested that schizophrenia, bipolar disorder, major depressive disorder, autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) share common disease-associated genes. However, whether individuals with first-degree relatives (FDRs) with schizophrenia have a higher risk of these major psychiatric disorders requires further investigation. This study used Taiwan's National Health Insurance Research Database and identified 151 650 patients with schizophrenia and 227 967 individuals with FDRs with schizophrenia...
November 7, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29112197/association-of-genetic-ancestry-with-striatal-dopamine-d2-d3-receptor-availability
#8
C E Wiers, P C Towb, C A Hodgkinson, P-H Shen, C Freeman, G Miller, E Lindgren, E Shokri-Kojori, Ş B Demiral, S W Kim, D Tomasi, H Sun, G-J Wang, D Goldman, N D Volkow
Despite ethnic differences in allele frequencies of variants in dopaminergic genes associated with dopamine D2/D3 receptor availability (D2R), no study to date has investigated the relationship between genetic ancestry and striatal D2R. Here, we show that ancestry-informative markers significantly predict dorsal striatal D2R in 117 healthy ethnically diverse residents of the New York metropolitan area using Positron Emission Tomography (PET) with [(11)C]raclopride (P<0.0001), while correcting for age, sex, BMI, education, smoking status, and estimated socioeconomic status (ZIP codes)...
November 7, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29112196/understanding-the-roles-of-mutations-in-the-amyloid-precursor-protein-in-alzheimer-disease
#9
REVIEW
S Hunter, C Brayne
Many models of disease progression in Alzheimer's disease (AD) have been proposed to help guide experimental design and aid the interpretation of results. Models focussing on the genetic evidence include the amyloid cascade (ACH) and presenilin (PSH) hypotheses and the amyloid precursor protein (APP) matrix approach (AMA), of which the ACH has held a dominant position for over two decades. However, the ACH has never been fully accepted and has not yet delivered on its therapeutic promise. We review the ACH, PSH and AMA in relation to levels of APP proteolytic fragments reported from AD-associated mutations in APP...
November 7, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29112194/genome-wide-association-study-identifies-a-novel-locus-for-cannabis-dependence
#10
A Agrawal, Y-L Chou, C E Carey, D A A Baranger, B Zhang, R Sherva, L Wetherill, M Kapoor, J-C Wang, S Bertelsen, A P Anokhin, V Hesselbrock, J Kramer, M T Lynskey, J L Meyers, J I Nurnberger, J P Rice, J Tischfield, L J Bierut, L Degenhardt, L A Farrer, J Gelernter, A R Hariri, A C Heath, H R Kranzler, P A F Madden, N G Martin, G W Montgomery, B Porjesz, T Wang, J B Whitfield, H J Edenberg, T Foroud, A M Goate, R Bogdan, E C Nelson
Despite moderate heritability, only one study has identified genome-wide significant loci for cannabis-related phenotypes. We conducted meta-analyses of genome-wide association study data on 2080 cannabis-dependent cases and 6435 cannabis-exposed controls of European descent. A cluster of correlated single-nucleotide polymorphisms (SNPs) in a novel region on chromosome 10 was genome-wide significant (lowest P=1.3E-8). Among the SNPs, rs1409568 showed enrichment for H3K4me1 and H3K427ac marks, suggesting its role as an enhancer in addiction-relevant brain regions, such as the dorsolateral prefrontal cortex and the angular and cingulate gyri...
November 7, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29098925/the-world-federation-of-societies-of-biological-psychiatry-wfsbp-guidelines-for-the-biological-treatment-of-bipolar-disorders-acute-and-long-term-treatment-of-mixed-states-in-bipolar-disorder
#11
Heinz Grunze, Eduard Vieta, Guy M Goodwin, Charles Bowden, Rasmus W Licht, Jean-Michel Azorin, Lakshmi Yatham, Sergey Mosolov, Hans-Jürgen Möller, Siegfried Kasper
OBJECTIVES: Although clinically highly relevant, the recognition and treatment of bipolar mixed states has played only an underpart in recent guidelines. This WFSBP guideline has been developed to supply a systematic overview of all scientific evidence pertaining to the acute and long-term treatment of bipolar mixed states in adults. METHODS: Material used for these guidelines is based on a systematic literature search using various data bases. Their scientific rigour was categorised into six levels of evidence (A-F), and different grades of recommendation to ensure practicability were assigned...
November 3, 2017: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/29088930/copy-number-variation-in-syndromic-forms-of-psychiatric-illness-the-emerging-value-of-clinical-genetic-testing-in-psychiatry
#12
Christian G Bouwkamp, Anneke J A Kievit, Sander Markx, Joseph I Friedman, Laura van Zutven, Rick van Minkelen, Terry Vrijenhoek, Bin Xu, Ineke Sterrenburg-van de Nieuwegiessen, Joris A Veltman, Vincenzo Bonifati, Steven A Kushner
No abstract text is available yet for this article.
November 1, 2017: American Journal of Psychiatry
https://www.readbyqxmd.com/read/29076399/cerebrospinal-fluid-and-blood-biomarkers-for-neurodegenerative-dementias-an-update-of-the-consensus-of-the-task-force-on-biological-markers-in-psychiatry-of-the-world-federation-of-societies-of-biological-psychiatry
#13
Piotr Lewczuk, Peter Riederer, Sid E O'Bryant, Marcel M Verbeek, Bruno Dubois, Pieter Jelle Visser, Kurt A Jellinger, Sebastiaan Engelborghs, Alfredo Ramirez, Lucilla Parnetti, Clifford R Jack, Charlotte E Teunissen, Harald Hampel, Alberto Lleó, Frank Jessen, Lidia Glodzik, Mony J de Leon, Anne M Fagan, José Luis Molinuevo, Willemijn J Jansen, Bengt Winblad, Leslie M Shaw, Ulf Andreasson, Markus Otto, Brit Mollenhauer, Jens Wiltfang, Martin R Turner, Inga Zerr, Ron Handels, Alexander G Thompson, Gunilla Johansson, Natalia Ermann, John Q Trojanowski, Ilker Karaca, Holger Wagner, Patrick Oeckl, Linda van Waalwijk van Doorn, Maria Bjerke, Dimitrios Kapogiannis, H Bea Kuiperij, Lucia Farotti, Yi Li, Brian A Gordon, Stéphane Epelbaum, Stephanie J B Vos, Catharina J M Klijn, William E Van Nostrand, Carolina Minguillon, Matthias Schmitz, Carla Gallo, Andrea Lopez Mato, Florence Thibaut, Simone Lista, Daniel Alcolea, Henrik Zetterberg, Kaj Blennow, Johannes Kornhuber
In the 12 years since the publication of the first Consensus Paper of the WFSBP on biomarkers of neurodegenerative dementias, enormous advancement has taken place in the field, and the Task Force takes now the opportunity to extend and update the original paper. New concepts of Alzheimer's disease (AD) and the conceptual interactions between AD and dementia due to AD were developed, resulting in two sets for diagnostic/research criteria. Procedures for pre-analytical sample handling, biobanking, analyses and post-analytical interpretation of the results were intensively studied and optimised...
October 27, 2017: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/29072182/social-challenges-of-contemporary-psychiatry
#14
N Bouras
Psychiatry and society are interrelated and the biopsychosocial model continues to dominate the clinical psychiatric practice. Some doubts have been expressed in recent years about the value and the wide acceptance of the biopsychosocial model. Ghaemi (2009)1 considers it to be anti-humanistic and advocates the use of less eclectic, less generic, and less vague alternatives. The fundamental changes that have been witnessed in our times across the spectrum of biology, psychology and sociology have made necessary that a conceptual clarity should prevail...
July 2017: Psychiatrikē, Psychiatriki
https://www.readbyqxmd.com/read/29072179/the-role-of-chronobiology-as-transdisciplinary-field-of-research-application-to-psychiatry
#15
Okan Çalıyurt
Chronobiology is a field that studies the effects of time on biological systems. Periodicity is of particular interest. The master biological clock in the suprachiasmatic nucleus controls daily rhythms of core body temperature, rest-activity cycle, physiological and behavioral functions, psychomotor functions and mood in humans. The clock genes are involved in the generation of the circadian rhythms and the biological clock is synchronized to solar day by direct photic inputs. Various circadian rhythm abnormalities have been demonstrated in mood disorders such as unipolar depression, bipolar depression and seasonal affective disorder...
October 26, 2017: Balkan Medical Journal
https://www.readbyqxmd.com/read/29038767/evaluation-of-plasma-cytokines-in-patients-with-cocaine-use-disorders-in-abstinence-identifies-transforming-growth-factor-alpha-tgf%C3%AE-as-a-potential-biomarker-of-consumption-and-dual-diagnosis
#16
Rosa Maza-Quiroga, Nuria García-Marchena, Pablo Romero-Sanchiz, Vicente Barrios, María Pedraz, Antonia Serrano, Raquel Nogueira-Arjona, Juan Jesus Ruiz, Maribel Soria, Rafael Campos, Julie Ann Chowen, Jesus Argente, Marta Torrens, Meritxell López-Gallardo, Eva María Marco, Fernando Rodríguez de Fonseca, Francisco Javier Pavón, Pedro Araos
BACKGROUND: Cocaine use disorder (CUD) is a complex health condition, especially when it is accompanied by comorbid psychiatric disorders (dual diagnosis). Dual diagnosis is associated with difficulties in the stratification and treatment of patients. One of the major challenges in clinical practice of addiction psychiatry is the lack of objective biological markers that indicate the degree of consumption, severity of addiction, level of toxicity and response to treatment in patients with CUD...
2017: PeerJ
https://www.readbyqxmd.com/read/29038598/male-specific-deficits-in-natural-reward-learning-in-a-mouse-model-of-neurodevelopmental-disorders
#17
N M Grissom, S E McKee, H Schoch, N Bowman, R Havekes, W T O'Brien, E Mahrt, S Siegel, K Commons, C Portfors, T Nickl-Jockschat, T M Reyes, T Abel
Neurodevelopmental disorders, including autism spectrum disorders, are highly male biased, but the underpinnings of this are unknown. Striatal dysfunction has been strongly implicated in the pathophysiology of neurodevelopmental disorders, raising the question of whether there are sex differences in how the striatum is impacted by genetic risk factors linked to neurodevelopmental disorders. Here we report male-specific deficits in striatal function important to reward learning in a mouse model of 16p11.2 hemideletion, a genetic mutation that is strongly associated with the risk of neurodevelopmental disorders, particularly autism and attention-deficit hyperactivity disorder...
October 17, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29033635/evaluation-of-5-httlpr-gene-polymorphism-and-resilience-components-on-the-development-of-psychopathology-in-adolescent-sexual-abuse-cases
#18
Gresa Çarkaxhiu Bulut, Ayşe Rodopman Arman, İlter Güney, Pınar Gültepe
INTRODUCTION: More than one-fourth adolescents are exposed to unexpected frightening experiences and traumas until adulthood. In this study, we aimed to determine the potential role of serotonin transporter (5-HTT) gene polymorphism regarding resilience factors in the symptom variability of individuals exposed to sexual abuse. METHODS: Adolescents aged 11-17 years, who were admitted to the Marmara University Child Psychiatry Outpatient Clinic Forensic division with sexual abuse experience history, were informed about the research, and volunteers were included in the study...
September 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/29031921/disconnectionism-in-biological-psychiatry
#19
Aaron F Alexander-Bloch
No abstract text is available yet for this article.
November 15, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29021832/pharmacogenomics-in-the-treatment-of-mood-disorders-strategies-and-opportunities-for-personalized-psychiatry
#20
REVIEW
Azmeraw T Amare, Klaus Oliver Schubert, Bernhard T Baune
Personalized medicine (personalized psychiatry in a specific setting) is a new model towards individualized care, in which knowledge from genomics and other omic pillars (microbiome, epigenomes, proteome, and metabolome) will be combined with clinical data to guide efforts to new drug development and targeted prescription of the existing treatment options. In this review, we summarize pharmacogenomic studies in mood disorders that may lay the foundation towards personalized psychiatry. In addition, we have discussed the possible strategies to integrate data from omic pillars as a future path to personalized psychiatry...
September 2017: EPMA Journal
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