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https://www.readbyqxmd.com/read/29352661/mechanistic-insights-into-the-genetics-of-affective-psychosis-from-prader-willi-syndrome
#1
REVIEW
Lucie C S Aman, Katherine E Manning, Joyce E Whittington, Anthony J Holland
Schizophrenia and bipolar disorder are common, severe, and disabling psychotic disorders, which are difficult to research. We argue that the genetically determined neurodevelopmental disorder Prader-Willi syndrome (PWS), which is associated with a high risk of affective psychotic illness, can provide a window into genetic mechanisms and associated neural pathways. People with PWS can all show non-psychotic psychopathology and problem behaviours, but the prevalence of psychotic illness differs markedly by genetic subtype; people with PWS due to chromosome 15 maternal uniparental disomy have higher prevalence of psychotic illness compared with patients with PWS due to 15q11-13 deletions of paternal origin...
January 15, 2018: Lancet Psychiatry
https://www.readbyqxmd.com/read/29352395/association-between-crp-genetic-diversity-and-bipolar-disorder-comorbid-complications
#2
Wahid Boukouaci, José Oliveira, Bruno Etain, Meriem Bennabi, Christina Mariaselvam, Nora Hamdani, Céline Manier, Djaouida Bengoufa, Frank Bellivier, Chantal Henry, Jean-Pierre Kahn, Dominique Charron, Rajagopal Krishnamoorthy, Marion Leboyer, Ryad Tamouza
BACKGROUND: Chronic low-grade inflammation is believed to contribute, at least in a subset of patients, to the development of bipolar disorder (BD). In this context, the most investigated biological marker is the acute phase response molecule, C-reactive protein (CRP). While the genetic diversity of CRP was amply studied in various pathological settings, little is known in BD. METHODS: 568 BD patients along with 163 healthy controls (HC) were genotyped for the following single-nucleotide polymorphisms (SNPs) on the CRP gene: intron rs1417938 (+ 29) T/A, 3'-UTR rs1130864 (+ 1444) G/A, and downstream rs1205 (+ 1846) (C/T)...
January 20, 2018: International Journal of Bipolar Disorders
https://www.readbyqxmd.com/read/29352102/teenage-onset-progressive-myoclonic-epilepsy-due-to-a-familial-c9orf72-repeat-expansion
#3
Jelle van den Ameele, Ivana Jedlickova, Anna Pristoupilova, Anne Sieben, Sara Van Mossevelde, Chantal Ceuterick-de Groote, Helena Hůlková, Radoslav Matej, Alfred Meurs, Christine Van Broeckhoven, Samuel F Berkovic, Patrick Santens, Stanislav Kmoch, Bart Dermaut
BACKGROUND: The progressive myoclonic epilepsies (PME) are a heterogeneous group of disorders in which a specific diagnosis cannot be made in a subset of patients, despite exhaustive investigation. C9orf72 repeat expansions are emerging as an important causal factor in several adult-onset neurodegenerative disorders, in particular frontotemporal lobar degeneration and amyotrophic lateral sclerosis. An association with PME has not been reported previously. OBJECTIVE: To identify the causative mutation in a Belgian family where the proband had genetically unexplained PME...
January 19, 2018: Neurology
https://www.readbyqxmd.com/read/29352031/can-we-use-mice-to-study-schizophrenia
#4
REVIEW
Sarah Canetta, Christoph Kellendonk
The validity of rodent models for the study of psychiatric disorders is controversial. Despite great efforts from academic institutions and pharmaceutical companies, as of today, no major therapeutic intervention has been developed for the treatment of psychiatric disorders based on mechanistic insights from rodent models. Here, we argue that despite these historical shortcomings, rodent studies are nevertheless instrumental for identifying neuronal circuit mechanisms underlying behaviours that are affected in psychiatric disorders...
March 19, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/29352030/the-daunting-polygenicity-of-mental-illness-making-a-new-map
#5
REVIEW
Steven E Hyman
An epochal opportunity to elucidate the pathogenic mechanisms of psychiatric disorders has emerged from advances in genomic technology, new computational tools and the growth of international consortia committed to data sharing. The resulting large-scale, unbiased genetic studies have begun to yield new biological insights and with them the hope that a half century of stasis in psychiatric therapeutics will come to an end. Yet a sobering picture is coming into view; it reveals daunting genetic and phenotypic complexity portending enormous challenges for neurobiology...
March 19, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/29350705/direct-to-consumer-genetic-testing-helping-patients-make-informed-choices%C3%A2
#6
Suzanne M Mahon
Using direct-to-consumer genetic testing (DTCGT), individuals can order a genetic test, collect and submit a saliva sample, and obtain results about their genetic risk for a variety of traits and health conditions without involving a healthcare provider. Potential benefits of DTCGT include personal control over genetic information and health management decisions, whereas potential risks include misinterpretation of results, psychosocial distress, and lack of informed consent. Oncology nurses can provide education, support, and advocacy to enable patients to truly understand the positives and negatives associated with DTCGT...
February 1, 2018: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/29349890/case-report-cytochrome-p450-implications-for-comorbid-adhd-and-ocd-pharmacotherapy
#7
Michaela K Hogan, Nikhil P Rao
TOPIC: This case report details the treatment of an early adolescent already receiving treatment for attention-deficit hyperactivity disorder who presents with recurrent obsessive-compulsive disorder. Potential atomoxetine (Strattera) and fluoxetine (Prozac) interactions via Cytochrome P450 (CYP450) pathways are examined and alternate therapies are recommended. PURPOSE: Provide a discussion of psychopharmacogenomics, especially in the case of combining medications, CYP450 enzymes, and clinical implications in the context of the burgeoning field of precision medicine...
January 19, 2018: Journal of Child and Adolescent Psychiatric Nursing
https://www.readbyqxmd.com/read/29349527/genetic-test-reporting-and-counseling-for-melanoma-risk-in-minors-may-improve-sun-protection-without-inducing-distress
#8
Tammy K Stump, Lisa G Aspinwall, Wendy Kohlmann, Marjan Champine, Jamie Hauglid, Yelena P Wu, Emily Scott, Pamela Cassidy, Sancy A Leachman
Genetic testing of minors is advised only for conditions in which benefits of early intervention outweigh potential psychological harms. This study investigated whether genetic counseling and test reporting for the CDKN2A/p16 mutation, which confers highly elevated melanoma risk, improved sun protection without inducing distress. Eighteen minors (Mage = 12.4, SD = 1.9) from melanoma-prone families completed measures of protective behavior and distress at baseline, 1 week (distress only), 1 month, and 1 year following test disclosure...
January 19, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29346177/no-association-between-foxp2-rs10447760-and-schizophrenia-in-a-replication-study-of-the-chinese-han-population
#9
Jiajun Yin, Ningren Jia, Yansong Liu, Chunhui Jin, Fuquan Zhang, Shui Yu, Jun Wang, Jianmin Yuan
BACKGROUND: Schizophrenia (SCZ) is a severe and heritable psychiatric disorder, and previous studies have shown that regulation of the forkhead-box P2 gene (FOXP2) may play a role in schizophrenia. Moreover, just a few studies have identified a single nucleotide polymorphism (SNP) rs10447760 within the gene that was a risk variant for SCZ in the Chinese Han population. METHODS: To examine whether the variant in the FOXP2 gene contributes toward SCZ susceptibility, we carried out an association analysis of the SNP rs10447760 of the FOXP2 gene in a case-control study (1405 cases, 1137 controls) from China...
January 17, 2018: Psychiatric Genetics
https://www.readbyqxmd.com/read/29345598/dolutegravir-related-neurological-adverse-events-a-case-report-of-successful-management-with-therapeutic-drug-monitoring
#10
Francois Parant, Patrick Miailhes, Florence Brunel, Marie-Claude Gagnieu
Dolutegravir (DTG), a highly effective second-generation HIV integrase inhibitor with high genetic barrier to resistance, has shown excellent tolerability and safety profiles in clinical trials. However, some patients may experience neurological or psychiatric adverse effects leading to DTG discontinuation. This report describes a case of 29-year-old woman who developed neurological adverse events after starting the DTG-based antiretroviral therapy. Serum DTG concentrations were supra-therapeutic which has required a dosing interval adjustment...
January 16, 2018: Current Drug Safety
https://www.readbyqxmd.com/read/29344342/frontotemporal-dementia-latest-evidence-and-clinical-implications
#11
REVIEW
Juan Joseph Young, Mallika Lavakumar, Deena Tampi, Silpa Balachandran, Rajesh R Tampi
Background: Frontotemporal dementia (FTD) describes a cluster of neurocognitive syndromes that present with impairment of executive functioning, changes in behavior, and a decrease in language proficiency. FTD is the second most common form of dementia in those younger than 65 years and is expected to increase in prevalence as the population ages. This goal in our review is to describe advances in the understanding of neurobiological pathology, classification, assessment, and treatment of FTD syndromes...
January 2018: Therapeutic Advances in Psychopharmacology
https://www.readbyqxmd.com/read/29344338/current-best-practice-in-the-management-of-turner-syndrome
#12
REVIEW
Roopa Kanakatti Shankar, Philippe F Backeljauw
Turner syndrome (TS) is characterized by partial or complete loss of the second X-chromosome in phenotypic females resulting in a constellation of clinical findings that may include lymphedema, cardiac anomalies, short stature, primary ovarian failure and neurocognitive difficulties. Optimizing health care delivery is important to enable these individuals achieve their full potential. We review the current best practice management recommendations for individuals with TS focusing on the latest consensus opinion in regard to genetic diagnosis, treatment of short stature, estrogen supplementation, addressing psychosocial issues, as well screening for other comorbidities...
January 2018: Therapeutic Advances in Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29343559/a-genetic-locus-for-paranoia
#13
Bernard Crespi, Silven Read, Iiro Salminen, Peter Hurd
The psychological effects of brain-expressed imprinted genes in humans are virtually unknown. Prader-Willi syndrome (PWS) is a neurogenetic condition mediated by genomic imprinting, which involves high rates of psychosis characterized by hallucinations and paranoia, as well as autism. Altered expression of two brain-expressed imprinted genes, MAGEL2 and NDN, mediates a suite of PWS-related phenotypes, including behaviour, in mice. We phenotyped a large population of typical individuals for schizophrenia-spectrum and autism-spectrum traits, and genotyped them for the single-nucleotide polymorphism rs850807, which is putatively functional and linked with MAGEL2 and NDN Genetic variation in rs850807 was strongly and exclusively associated with the ideas of reference subscale of the schizophrenia spectrum, which is best typified as paranoia...
January 2018: Biology Letters
https://www.readbyqxmd.com/read/29340742/-wilson-disease
#14
D Huster
Wilson disease is a rare hereditary disorder of copper metabolism. The genetic defect is caused by various mutations in the copper-transporting enzyme ATP7B, located mainly in the liver and brain. Clinical symptoms are highly variable, with any combination of hepatic and/or neurological or psychiatric manifestations. The age of onset varies from early childhood to young adults and can even be manifested in later ages. The clinical diagnosis is based on a combination of clinical, biochemical and molecular markers...
January 16, 2018: Der Internist
https://www.readbyqxmd.com/read/29340519/evaluating-the-current-state-of-the-art-of-huntington-disease-research-a-scientometric-analysis
#15
L A Barboza, N C Ghisi
Huntington disease (HD) is an incurable neurodegenerative disorder caused by a dominant mutation on the 4th chromosome. We aim to present a scientometric analysis of the extant scientific undertakings devoted to better understanding HD. Therefore, a quantitative study was performed to examine the current state-of-the-art approaches that foster researchers' understandings of the current knowledge, research trends, and research gaps regarding this disorder. We performed literature searches of articles that were published up to September 2016 in the "ISI Web of Science™" (http://apps...
January 11, 2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/29339091/an-energetic-view-of-stress-focus-on-mitochondria
#16
REVIEW
Martin Picard, Bruce S McEwen, Elissa Epel, Carmen Sandi
Energy is required to sustain life and enable stress adaptation. At the cellular level, energy is largely derived from mitochondria - unique multifunctional organelles with their own genome. Four main elements connect mitochondria to stress: 1) Energy is required at the molecular, (epi)genetic, cellular, organ, and systemic levels to sustain components of stress responses; 2) Glucocorticoids and other steroid hormones are produced and metabolized by mitochondria; 3) Reciprocally, mitochondria functionally respond to neuroendocrine and metabolic stress mediators; and 4) Experimentally manipulating mitochondrial functions alters physiological and behavioral responses to psychological stress...
January 12, 2018: Frontiers in Neuroendocrinology
https://www.readbyqxmd.com/read/29338492/genetic-variation-of-gria3-gene-is-associated-with-vulnerability-to-methamphetamine-dependence-and-its-associated-psychosis
#17
Sri-Arun Iamjan, Samur Thanoi, Paritat Watiktinkorn, Gavin P Reynolds, Sutisa Nudmamud-Thanoi
Methamphetamine (METH) is an addictive psychostimulant drug commonly leading to schizophrenia-like psychotic symptoms. Disturbances in glutamatergic neurotransmission have been proposed as neurobiological mechanisms and the α-amino-3 hydroxy-5 methyl-4 isoxazole propionic acid (AMPA) glutamate receptor has been implicated in these processes. Moreover, genetic variants in GRIAs, genes encoding AMPA receptor subunits, have been observed in association with both drug dependence and psychosis. We hypothesized that variation of GRIA genes may be associated with METH dependence and METH-induced psychosis...
January 1, 2018: Journal of Psychopharmacology
https://www.readbyqxmd.com/read/29336871/epigenetic-regulation-of-the-kappa-opioid-receptor-gene-by-an-insertion-deletion-in-the-promoter-region
#18
Pierre-Eric Lutz, Daniel Almeida, Raoul Belzeaux, Ipek Yalcin, Gustavo Turecki
Preclinical and clinical studies have demonstrated that the kappa opioid receptor (KOR) regulates reward, hedonic tone and emotions. At therapeutic level, on-going clinical trials are assessing the potential of targeting the KOR for the management of depression, anxiety disorders and substance use disorders. However, genetic polymorphisms in the KOR gene that potentially contribute to its implication in these phenotypes have been poorly studied. Here we investigated an insertion-deletion in the promoter region of KOR (rs35566036), recently associated with alcohol addiction, in a cohort of depressed subjects who died by suicide, as well as psychiatrically healthy individuals...
January 11, 2018: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29336661/cancer-related-genetic-testing-and-personalized-medicine-for-adolescents-a-narrative-review-of-impact-and-understanding
#19
Janine Vetsch, Claire E Wakefield, Meera Warby, Katherine Tucker, Pandora Patterson, Brittany C McGill, Alison Metcalfe, Richard J Cohn, Joanna E Fardell
Genetic testing is becoming increasingly available for adolescents who are undergoing cancer treatment or at risk of cancer predisposition syndromes. With this narrative review, we aimed to synthesize the evidence on psychosocial outcomes and adolescents' understanding of genetic testing-thus far, an underresearched topic. Both psychological benefits and harms of predictive testing were reported in adolescents from high-risk families. Harms were mainly related to cancer-specific distress and increased worries...
January 16, 2018: Journal of Adolescent and Young Adult Oncology
https://www.readbyqxmd.com/read/29336640/novel-rnaset2-pathogenic-variants-in-an-east-asian-child-with-delayed-psychomotor-development
#20
Yan Sun, Xuyun Hu, Jiqing Song, Yanyan Hu, Caihong Liu, Guimei Li
INTRODUCTION: RNASET2 mutation has been reported in patients with cystic leukoencephalopathy without megalencephaly and the Aicardi-Goutieres syndrome. Both disorders are Mendelian mimics of congenital cytomegalovirus infection with overlapping features, including leukoencephalopathy, white matter alterations, intracranial calcification, delayed psychomotor development, intelligence disability and seizures. Only eight families with RNASET2 mutation have been previously reported. METHODS: Whole exome sequencing was performed and copy number variants were described by read-depth strategy...
January 16, 2018: Fetal and Pediatric Pathology
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