keyword
MENU ▼
Read by QxMD icon Read
search

Genetic* and psych*

keyword
https://www.readbyqxmd.com/read/28434104/mullerian-dysgenesis-a-critical-review-of-the-literature
#1
REVIEW
Souzana Choussein, Dimitrios Nasioudis, Dimitrios Schizas, Konstantinos P Economopoulos
PURPOSE: To present an update of the genetic, clinical, diagnostic, and therapeutic aspects of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. METHODS: Studies were considered eligible if they have evaluated patients with MRKH syndrome. Eligible articles were identified by a search of MEDLINE bibliographical database from 1950 to August 2016. A purely descriptive approach was adopted concerning all outcomes examined by the individual studies. RESULTS: MRKH syndrome is defined as congenital aplasia of the upper vagina and impairment of uterine development in normal 46XX females...
April 22, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28433949/the-dimensional-structure-of-psychopathology-in-22q11-2-deletion-syndrome
#2
Maria Niarchou, Tyler M Moore, Sunny X Tang, Monica E Calkins, Donna M McDonald-McGuinn, Elaine H Zackai, Beverly S Emanuel, Ruben C Gur, Raquel E Gur
BACKGROUND: 22q11.2 Deletion Syndrome (22q11.2DS) is one of the strongest known genetic risk factors for developing schizophrenia. Individuals with 22q11.2DS have high rates of neurodevelopmental disorders in childhood, while in adulthood ∼25% develop schizophrenia. Similar to the general population, high rates of comorbidity are common in 22q11.2DS. Employing a dimensional approach where psychopathology is examined at the symptom-level as complementary to diagnostic categories in a population at such high genetic risk for schizophrenia can help gain a better understanding of how psychopathology is structured as well as its genetic underpinnings...
April 15, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28433111/epidemiology-and-introduction-to-the-clinical-presentation-of-wilson-disease
#3
Christine Lo, Oliver Bandmann
Our understanding of the epidemiology of Wilson disease has steadily grown since Sternlieb and Scheinberg's first prevalence estimate of 5 per million individuals in 1968. Increasingly sophisticated genetic techniques have led to revised genetic prevalence estimates of 142 per million. Various population isolates exist where the prevalence of Wilson disease is higher still, the highest being 885 per million from within the mountainous region of Rucar in Romania. In Sardinia, where the prevalence of Wilson disease has been calculated at 370 per million births, six mutations account for around 85% of Wilson disease chromosomes identified...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28433109/pathogenesis-of-wilson-disease
#4
Ivo Florin Scheiber, Radan Brůha, Petr Dušek
Wilson disease is an autosomal-recessive disorder originating from a genetic defect in the copper-transporting ATPase ATP7B that is required for biliary copper secretion and loading of ceruloplasmin with copper. Impaired ATP7B function in Wilson disease results in excessive accumulation of copper in liver, brain, and other tissues. Toxic copper deposits may induce oxidative stress, modify expression of genes, directly inhibit proteins, and impair mitochondrial function, leading to hepatic, neuropsychiatric, renal, musculoskeletal, and other symptoms...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28433108/genetic-and-environmental-modifiers-of-wilson-disease
#5
Valentina Medici, Karl-Heinz Weiss
Wilson disease (WD) is characterized by remarkable variety in its phenotypic presentation. Patients with WD can present with hepatic, neurologic, and psychiatric symptoms combined in different and unpredictable ways. Importantly, no convincing phenotype-genotype correlation has ever been identified, opening the possibility that other genes, aside from ATPase copper-transporting beta (ATP7B), are involved in the pathogenesis of this condition. In addition, modifier genes, or genes that can affect the expression of other genes, may be involved...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28431800/genetic-predictors-of-antipsychotic-response-to-lurasidone-identified-in-a-genome-wide-association-study-and-by-schizophrenia-risk-genes
#6
Jiang Li, Akane Yoshikawa, Mark D Brennan, Timothy L Ramsey, Herbert Y Meltzer
Biomarkers which predict response to atypical antipsychotic drugs (AAPDs) increases their benefit/risk ratio. We sought to identify common variants in genes which predict response to lurasidone, an AAPD, by associating genome-wide association study (GWAS) data and changes (Δ) in Positive And Negative Syndrome Scale (PANSS) scores from two 6-week randomized, placebo-controlled trials of lurasidone in schizophrenia (SCZ) patients. We also included SCZ risk SNPs identified by the Psychiatric Genomics Consortium using a polygenic risk analysis...
April 18, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28431366/efficacy-and-safety-of-a-video-eeg-protocol-for-genetic-generalized-epilepsies
#7
Luciana Rodrigues De Marchi, Jeana Torres Corso, Ana Carolina Zetehaku, Carina Gonçalves Pedroso Uchida, Mirian Salvadori Bittar Guaranha, Elza Márcia Targas Yacubian
INTRODUCTION: Video-EEG has been used to characterize genetic generalized epilepsies (GGE). For best performance, sleep recording, photic stimulation, hyperventilation, and neuropsychological protocols are added to the monitoring. However, risks and benefits of these video-EEG protocols are not well established. The aim of this study was to analyze the efficacy and safety of a video-EEG neuropsychological protocol (VNPP) tailored for GGE and compare its value with that of routine EEG (R-EEG)...
April 18, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28429076/-search-for-risk-genes-in-schizophrenia
#8
D Rujescu
BACKGROUND: Schizophrenia is a severe psychiatric disease affecting approximately 0.5-1% of the general population. The relative contribution of genetic factors has been estimated to be 64-81%. OBJECTIVE: This review summarizes recent efforts to identify genetic variants associated with schizophrenia. METHODS: Relevant linkage and candidate genes as well as genome wide association studies, studies on copy number variants and next generation sequencing are presented and discussed...
April 20, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28428742/a-set-based-mixed-effect-model-for-gene-environment-interaction-and-its-application-to-neuroimaging-phenotypes
#9
Changqing Wang, Jianping Sun, Bryan Guillaume, Tian Ge, Derrek P Hibar, Celia M T Greenwood, Anqi Qiu
Imaging genetics is an emerging field for the investigation of neuro-mechanisms linked to genetic variation. Although imaging genetics has recently shown great promise in understanding biological mechanisms for brain development and psychiatric disorders, studying the link between genetic variants and neuroimaging phenotypes remains statistically challenging due to the high-dimensionality of both genetic and neuroimaging data. This becomes even more challenging when studying gene-environment interaction (G×E) on neuroimaging phenotypes...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28427482/a-genetic-variant-brain-dervied-neurotrophic-factor-bdnf-polymorphism-interacts-with-hostile-parenting-to-predict-error-related-brain-activity-and-thereby-risk-for-internalizing-disorders-in-children
#10
Alexandria Meyer, Greg Hajcak, Elizabeth Hayden, Haroon I Sheikh, Shiva M Singh, Daniel N Klein
The error-related negativity (ERN) is a negative deflection in the event-related potential occurring when individuals make mistakes, and is increased in children with internalizing psychopathology. We recently found that harsh parenting predicts a larger ERN in children, and recent work has suggested that variation in the brain-derived neurotrophic factor (BDNF) gene may moderate the impact of early life adversity. Parents and children completed measures of parenting when children were 3 years old (N = 201); 3 years later, the ERN was measured and diagnostic interviews as well as dimensional symptom measures were completed...
April 21, 2017: Development and Psychopathology
https://www.readbyqxmd.com/read/28426714/a-genetic-risk-score-for-cad-psychological-stress-and-their-interaction-as-predictors-of-cad-fatal-mi-non-fatal-mi-and-cardiovascular-death
#11
Thomas Svensson, Mariusz Kitlinski, Gunnar Engström, Olle Melander
BACKGROUND: Psychological stress is an independent risk factor for cardiovascular disease (CVD), but the mechanism by which stress is associated with CVD is not entirely understood. Although genetic factors are implied in both stress responsivity and cardiovascular reactivity, no studies to date have investigated their interactions with stress for cardiovascular end points. The objective was to elucidate the association and interactions between a genetic risk score (GRS), individual genetic variants and stress for three cardiovascular end points: coronary artery disease (CAD), fatal myocardial infarction (MI), non-fatal MI, and cardiovascular death...
2017: PloS One
https://www.readbyqxmd.com/read/28425121/role-of-the-dynorphin-kappa-opioid-receptor-system-in-the-motivational-effects-of-ethanol
#12
Rachel I Anderson, Howard C Becker
Evidence has demonstrated that dynorphin (DYN) and the kappa opioid receptor (KOR) system contribute to various psychiatric disorders, including anxiety, depression, and addiction. More recently, this endogenous opioid system has received increased attention as a potential therapeutic target for treating alcohol use disorders. In this review, we provide an overview and synthesis of preclinical studies examining the influence of alcohol (ethanol) exposure on DYN/KOR expression and function, as well as studies examining the effects of DYN/KOR manipulation on ethanol's rewarding and aversive properties...
April 20, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28424661/gonadotropin-inhibitory-hormone-plays-roles-in-stress-induced-reproductive-dysfunction
#13
REVIEW
Takeshi Iwasa, Toshiya Matsuzaki, Kiyohito Yano, Minoru Irahara
Physical and psychological stressors suppress hypothalamic-pituitary-gonadal axis activity and sexual behavior and consequently induce reproductive dysfunction. Recently, it has been shown that gonadotropin-inhibitory hormone (GnIH), also called RFamide-related peptide 3 (RFRP) in mammals, which is a potent inhibitory regulator of gonadotropin-releasing hormone (GnRH) and gonadotropin, is involved in stress-induced reproductive dysfunction. GnIH/Rfrp (the gene coding RFRP-3) expression and activity are increased by psychological and immune stress, and this alteration suppresses GnRH and gonadotropin secretion...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28424560/an-exploratory-study-of-host-polymorphisms-in-genes-that-clinically-characterize-breast-cancer-tumors-and-pretreatment-cognitive-performance-in-breast-cancer-survivors
#14
Theresa A Koleck, Catherine M Bender, Beth Z Clark, Christopher M Ryan, Puja Ghotkar, Adam Brufsky, Priscilla F McAuliffe, Priya Rastogi, Susan M Sereika, Yvette P Conley
PURPOSE: Inspired by the hypothesis that heterogeneity in the biology of breast cancers at the cellular level may account for cognitive dysfunction symptom variability in survivors, the current study explored relationships between host single-nucleotide polymorphisms (SNPs) in 25 breast cancer-related candidate genes (AURKA, BAG1, BCL2, BIRC5, CCNB1, CD68, CENPA, CMC2, CTSL2, DIAPH3, ERBB2, ESR1, GRB7, GSTM1, MELK, MKI67, MMP11, MYBL2, NDC80, ORC6, PGR, RACGAP1, RFC4, RRM2, and SCUBE2), identified from clinically relevant prognostic multigene-expression profiles for breast cancer, and pretreatment cognitive performance...
2017: Breast Cancer: Targets and Therapy
https://www.readbyqxmd.com/read/28424317/the-williams-syndrome-prosociality-gene-gtf2i-mediates-oxytocin-reactivity-and-social-anxiety-in-a-healthy-population
#15
Tanya L Procyshyn, Jason Spence, Silven Read, Neil V Watson, Bernard J Crespi
The neurohormone oxytocin plays a central role in human social behaviour and cognition, and oxytocin dysregulation may contribute to psychiatric disorders. However, genetic factors influencing individual variation in the oxytocinergic system remain poorly understood. We genotyped 169 healthy adults for a functional polymorphism in GTF2I (general transcription factor II-I), a gene associated with high prosociality and reduced social anxiety in Williams syndrome, a condition reported to involve high oxytocin levels and reactivity...
April 2017: Biology Letters
https://www.readbyqxmd.com/read/28424147/treatment-of-leukoencephalopathy-with-calcifications-and-cysts-with-bevacizumab
#16
Alex J Fay, Allison A King, Joshua S Shimony, Yanick J Crow, Jan E Brunstrom-Hernandez
BACKGROUND: Leukoencephalopathy with calcifications and cysts is a rare, autosomal recessive cerebral microangiopathy that causes progressive white matter disease, calcifications, and cysts within the brain. It is typically associated with slowly progressive psychomotor regression, seizures, and movement disorders. Although leukoencephalopathy with calcifications and cysts affects only the central nervous system, it demonstrates remarkable neuropathologic and radiologic overlap with Coats plus, a disorder of small vessels of the brain, eyes, gastrointestinal tract, and bone...
March 23, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28423808/security-policy-and-infrastructure-in-the-context-of-a-multi-centeric-information-system-dedicated-to-autism-spectrum-disorder
#17
Mohamed Ben Said, Laurence Robel, Bernard Golse, Jean Philippe Jais
Autism spectrum disorders (ASD) are complex neuro-developmental disorders affecting children in their early age. The diagnosis of ASD relies on multidisciplinary investigations, in psychiatry, neurology, genetics, electrophysiology, neuro-imagery, audiology and ophthalmology. In order to support clinicians, researchers and public health decision makers, we designed an information system dedicated to ASD, called TEDIS. TEDIS was designed to manage systematic, exhaustive and continuous multi-centric patient data collection via secured Internet connections...
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/28422133/gene-set-analysis-shows-association-between-fmrp-targets-and-autism-spectrum-disorder
#18
Arija Jansen, Gwen C Dieleman, August B Smit, Matthijs Verhage, Frank C Verhulst, Tinca J C Polderman, Danielle Posthuma
Autism spectrum disorder (ASD) is a heterogeneous group of disorders characterized by problems with social interaction, communication, and repetitive and restricted behavior. Despite its high heritability and the substantial progress made in elucidating genetic associations, the corresponding biological mechanisms are largely unknown. Our objective is to investigate the contribution of common genetic variation to biological pathways functionally involved in ASD. We conducted gene-set analyses to identify ASD-associated functional biological pathways using the statistical tools MAGMA and INRICH...
April 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28422132/haploinsufficiency-for-ankrd11-flanking-genes-makes-the-difference-between-kbg-and-16q24-3-microdeletion-syndromes-12-new-cases
#19
Francesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse, Joris Robert Vermeesch, Koenraad Devriendt, Carlos A Bacino, Andrée Delahaye, S M Maas, Achille Iolascon, Orsetta Zuffardi
16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting the corpus callosum and short stature. On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability...
April 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28421709/gene-environment-interaction-influences-attachment-like-style-in-mice
#20
Glenda Lassi, Valter Tucci
Attachment styles are established soon after birth and form the basis for a healthy psychological life during adulthood. Here, we investigated whether genetic background (i.e., isogenic strains: C57Bl/6N and BALB/c) and parent-of-origin (i.e., reciprocal hybrids) epigenetic effects influence attachment-like styles in mice. We discovered that a specific genetic and epigenetic assortment exerts a role on the development of a secure or insecure attachment-like style. In particular, when biological mothers raise their pups, the attachment-like style is mainly secure, independently of the genetic background...
April 19, 2017: Genes, Brain, and Behavior
keyword
keyword
82798
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"