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https://www.readbyqxmd.com/read/28938731/the-importance-of-genetic-parenthood-for-infertile-men-and-women
#1
S Hendriks, K Peeraer, H Bos, S Repping, E A F Dancet
STUDY QUESTION: Do men and women beginning to attend a fertility clinic prefer genetic over non-genetic parenthood? SUMMARY ANSWER: Nearly, all infertile men and women prefer genetic parenthood. WHAT IS KNOWN ALREADY: Clinicians assume that all infertile couples prefer genetic parenthood over non-genetic parenthood and, therefore, consider treatments with donor gametes an option of last resort. Previous studies of the desire for parenthood identified 30 motivations for genetic parenthood, and 51 motivations for which having a genetically related child is not strictly necessary but might be deemed required...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28937692/bdnf-at-the-synapse-why-location-matters
#2
M Song, K Martinowich, F S Lee
Neurotrophic factors, a family of secreted proteins that support the growth, survival and differentiation of neurons, have been intensively studied for decades due to the powerful and diverse effects on neuronal physiology, as well as their therapeutic potential. Such efforts have led to a detailed understanding on the molecular mechanisms of neurotrophic factor signaling. One member, brain-derived neurotrophic factor (BDNF) has drawn much attention due to its pleiotropic roles in the central nervous system and implications in various brain disorders...
October 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28937620/dysbindin-1-involvement-in-the-etiology-of-schizophrenia
#3
REVIEW
Haitao Wang, Jiangping Xu, Philip Lazarovici, Wenhua Zheng
Schizophrenia is a major psychiatric disorder that afflicts about 1% of the world's population, falling into the top 10 medical disorders causing disability. Existing therapeutic strategies have had limited success on cognitive impairment and long-term disability and are burdened by side effects. Although new antipsychotic medications have been launched in the past decades, there has been a general lack of significant innovation. This lack of significant progress in the pharmacotherapy of schizophrenia is a reflection of the complexity and heterogeneity of the disease...
September 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28936814/-the-role-of-molecular-karyotyping-in-the-genetic-etiology-of-autism
#4
Burcu Özbaran, Bilçağ Akgün, Duygu Kaçamak, Sezen Köse, Ayşenur Kavasoğlu, Hüseyin Onay
OBJECTIVE: The aim of this study was to investigate the deletions and duplications with a molecular karyotyping technique and to elucidate the etiology of autism. METHOD: A total of 31 patients (20 boys and 11 girls) between 4 to 18 years old with normal chromosomal analysis and no Fragile X mutation were diagnosed in the Ege University Child and Adolescent Psychiatry Clinic with autism (according to DSM-IV-TR criteria) and were enrolled in the study. Symptom severity of the patients was evaluated with a Childhood Autism Rating Scale...
2017: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
https://www.readbyqxmd.com/read/28936622/prevalence-of-psychopathology-in-bipolar-high-risk-offspring-and-siblings-a-meta-analysis
#5
REVIEW
Phoebe Lau, David J Hawes, Caroline Hunt, Andrew Frankland, Gloria Roberts, Philip B Mitchell
This meta-analysis aimed to update existing data on the comparison of prevalence rates of psychopathology primarily among offspring with at least one parent with bipolar disorder (BD) and offspring of parents without psychiatric illness. Seventeen studies were derived from a systematic search of PsychInfo, Medline, Scopus and Embase. Inclusion criteria were use of a control offspring group, standardized diagnostic procedures and reporting of clear frequency data. Risk of psychopathology was estimated by aggregating frequency data from selected studies...
September 21, 2017: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/28936154/potential-role-of-amino-acids-in-pathogenesis-of-schizophrenia
#6
REVIEW
Shamaila Saleem, Faiza Shaukat, Anjuman Gul, Mahwish Arooj, Arif Malik
Schizophrenia is a syndrome of inconclusive etiopathogenesis with a prevalence of about 1% in general population. Underlying factors include genetic predisposition and defected neurodevelopment in early stages of life. The role of amino acids has been indicated in some reports. However, very few workers have detailed the effect of each amino acid in the pathophysiology of schizophrenia. Thus, in the present review, we aimed to provide an insight into the potential role of amino acids levels during schizophrenia...
July 2017: International Journal of Health Sciences
https://www.readbyqxmd.com/read/28934990/x-linked-ichthyosis-associated-with-psychosis-and-behavioral-abnormalities-a-case-report
#7
Amna Malik, Ahmed Bait Amer, Mohammed Salama, Bander Haddad, Muhammad T Alrifai, Mohammed Al Balwi, William Davies, Wafaa Eyaid
BACKGROUND: X-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been associated with developmental and neurological phenotypes. Here, we show for the first time, that X-linked ichthyosis may be comorbid with an additional psychiatric phenotype (psychosis). CASE PRESENTATION: We report the case of an 11-year-old Saudi Arabian boy with X-linked ichthyosis associated with psychosis, mental retardation, autism spectrum disorder, inattentive attention deficit hyperactivity disorder, and epilepsy...
September 22, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28934779/what-are-the-predictors-of-altered-central-pain-modulation-in-chronic-musculoskeletal-pain-populations-a-systematic-review
#8
Jacqui Clark, Jo Nijs, Gillian Yeowell, Peter Charles Goodwin
BACKGROUND: Altered central pain modulation is the predominant pain mechanism in a proportion of chronic musculoskeletal pain disorders and is associated with poor outcomes. Although existing studies predict poor outcomes such as persistent pain and disability, to date there is little consensus on what factors specifically predict altered central pain modulation. OBJECTIVES: To review the existing literature on the predictive factors specifically for altered central pain modulation in musculoskeletal pain populations...
September 2017: Pain Physician
https://www.readbyqxmd.com/read/28933969/psychopharmacological-advances-in-eating-disorders
#9
Hubertus Himmerich, Janet Treasure
Anorexia nervosa (AN), bulimia nervosa (BN) and binge eating disorder (BED) are the primary eating disorders (EDs). The only psychopharmacological treatment options for EDs with approval in some countries include fluoxetine for BN and lisdexamfetamine for BED. Given the high comorbidity and genetic correlations with other psychiatric disorders, it seems possible that novel medications for these conditions might also be effective in EDs. Areas Covered: The current scientific literature has increased our understanding of how medication could be beneficial for patients with EDs on a molecular, functional and behavioral level...
September 21, 2017: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/28932874/-epilepsy-new-diagnostic-tools-old-drugs-therapeutic-consequences-of-epilepsy-genetics
#10
REVIEW
M Tacke, B A Neubauer, L Gerstl, T Roser, J Rémi, I Borggraefe
BACKGROUND: Recent advances in the field of epilepsy genetics have led to an increased fraction of patients with epilepsies where the etiology of the disease could be identified. Nevertheless, there is some criticism regarding the use of epilepsy genetics because in many cases the identification of a pathogenetic mutation does not lead to an adaptation of therapy or to an improved prognosis. In addition, the interpretation of genetic results might be complicated due to the considerable numbers of variants of unclear significance...
September 20, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28932600/abnormal-n400-semantic-priming-effect-may-reflect-psychopathological-processes-in-schizophrenia-a-twin-study
#11
Anuradha Sharma, Heinrich Sauer, Holger Hill, Claudia Kaufmann, Stephan Bender, Matthias Weisbrod
OBJECTIVE: Activation of semantic networks is indexed by the N400 effect. We used a twin study design to investigate whether N400 effect abnormalities reflect genetic/trait liability or are related to psychopathological processes in schizophrenia. METHODS: We employed robust linear regression to compare N400 and behavioral priming effects across 36 monozygotic twin pairs (6 pairs concordant for schizophrenia/schizoaffective disorder, 11 discordant pairs, and 19 healthy control pairs) performing a lexical decision task...
2017: Schizophrenia Research and Treatment
https://www.readbyqxmd.com/read/28931501/cancer-predisposition-cascade-screening-for-hereditary-breast-ovarian-cancer-and-lynch-syndromes-in-switzerland-study-protocol
#12
Maria C Katapodi, Valeria Viassolo, Maria Caiata-Zufferey, Christos Nikolaidis, Rosmarie Bührer-Landolt, Nicole Buerki, Rossella Graffeo, Henrik Csaba Horváth, Christian Kurzeder, Manuela Rabaglio, Michael Scharfe, Corinne Urech, Tobias E Erlanger, Nicole Probst-Hensch, Karl Heinimann, Viola Heinzelmann-Schwarz, Olivia Pagani, Pierre O Chappuis
BACKGROUND: Breast, colorectal, ovarian, and endometrial cancers constitute approximately 30% of newly diagnosed cancer cases in Switzerland, affecting more than 12,000 individuals annually. Hundreds of these patients are likely to carry germline pathogenic variants associated with hereditary breast ovarian cancer (HBOC) or Lynch syndrome (LS). Genetic services (counseling and testing) for hereditary susceptibility to cancer can prevent many cancer diagnoses and deaths through early identification and risk management...
September 20, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28931400/conduct-disorders-and-psychopathy-in-children-and-adolescents-aetiology-clinical-presentation-and-treatment-strategies-of-callous-unemotional-traits
#13
REVIEW
Simone Pisano, Pietro Muratori, Chiara Gorga, Valentina Levantini, Raffaella Iuliano, Gennaro Catone, Giangennaro Coppola, Annarita Milone, Gabriele Masi
Conduct Disorder (CD) is a psychiatric diagnosis characterized by a repetitive and persistent pattern of behaviour in which the basic rights of others and major age-appropriate social norms or rules are violated. Callous Unemotional (CU) traits are a meaningful specifier in subtyping CD for more severe antisocial and aggressive behaviours in adult psychopathology; they represent the affective dimension of adult psychopathy, but they can be also detected in childhood and adolescence. The CU traits include lack of empathy, sense of guilt and shallow emotion, and their characterization in youth can improve our diagnostic, prognostic and therapeutic abilities...
September 20, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28931220/race-ethnicity-and-the-pharmacogenetics-of-reported-suicidality-with-efavirenz-among-clinical-trials-participants
#14
Katie R Mollan, Camlin Tierney, Jacklyn N Hellwege, Joseph J Eron, Michael G Hudgens, Roy M Gulick, Richard Haubrich, Paul E Sax, Thomas B Campbell, Eric S Daar, Kevin R Robertson, Diana Ventura, Qing Ma, Digna R Velez Edwards, David W Haas
Background: We examined associations between suicidality and genotypes that predict plasma efavirenz exposure among AIDS Clinical Trials Group study participants in the United States. Methods: Four clinical trials randomly assigned treatment-naive participants to efavirenz-containing regimens; suicidality was defined as reported suicidal ideation or attempted or completed suicide. Genotypes that predict plasma efavirenz exposure were defined by CYP2B6 and CYP2A6 polymorphisms...
September 1, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28930645/spores-and-vegetative-cells-of-phenotypically-and-genetically-diverse-i-bacillus-cereus-sensu-lato-i-are-common-bacteria-in-fresh-water-of-northeastern-poland
#15
Marek Bartoszewicz, Urszula Czyzewska
Gram-positive rods named <i>B. cereus sensu lato</i> (<i>sl</i>), are common in natural habitats and food products. It is believed that they are restricted to spores, however their ecology in aquatic habitats is still poorly investigated. Thus, the aim of the study was to assess the rain-dependent fluctuations of the concentration of <i>B. cereus sl</i> vegetative cells and spores with evaluation of their phylogenetic and population structure in relation to the toxicity and psychrotolerance...
September 20, 2017: Canadian Journal of Microbiology
https://www.readbyqxmd.com/read/28929996/why-are-psychotic-experiences-associated-with-self-injurious-thoughts-and-behaviours-a-systematic-review-and-critical-appraisal-of-potential-confounding-and-mediating-factors
#16
E Hielscher, J E DeVylder, S Saha, M Connell, J G Scott
Psychotic experiences (PEs), including hallucination- and delusion-like experiences, are robustly associated with self-injurious thoughts and behaviours (SITB) in the general population. However, it remains unclear as to why there is an association. The purpose of this systematic review was to elucidate the role of other factors that influence the association between PEs and SITB and, in doing so, highlight potential mechanisms underlying the relationship. A search of electronic international databases was undertaken, including PubMed, PsycINFO and EMBASE, and eligible studies were grouped according to seven confounder categories: sociodemographics, mental disorders, alcohol and substance use, environmental, psychological, intervention and family history/genetic factors...
September 20, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28929285/genomic-disorders-in-psychiatry-what-does-the-clinician-need-to-know
#17
REVIEW
Chelsea Lowther, Gregory Costain, Danielle A Baribeau, Anne S Bassett
PURPOSE OF REVIEW: The purpose of this review is to summarize the role of genomic disorders in various psychiatric conditions and to highlight important recent advances in the field that are of potential clinical relevance. RECENT FINDINGS: Genomic disorders are caused by large rare recurrent deletions and duplications at certain chromosomal "hotspots" (e.g., 22q11.2, 16p11.2, 15q11-q13, 1q21.1, 15q13.3) across the genome. Most overlap multiple genes, affect development, and are associated with variable cognitive and other neuropsychiatric expression...
September 20, 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28926843/the-genetic-basis-of-delayed-puberty
#18
S R Howard, Leo Dunkel
<br>The genetic control of puberty remains an important but mostly unanswered question. Late pubertal timing affects over 2% of adolescents and is associated with adverse health outcomes including short stature, reduced bone mineral density and compromised psychosocial health. Self-limited delayed puberty (DP) is a highly heritable trait, which often segregates in an autosomal dominant pattern; however, its neuroendocrine pathophysiology and genetic regulation remain unclear. Some insights into the genetic mutations that lead to familial DP have come from sequencing genes known to cause GnRH deficiency, most recently via next generation sequencing, and others from large-scale genome wide association studies in the general population...
September 18, 2017: Neuroendocrinology
https://www.readbyqxmd.com/read/28925523/bdnf-haplo-insufficiency-impairs-high-frequency-cortical-oscillations-in-mice
#19
Nigel C Jones, Matthew Hudson, Joshua Foreman, Gil Rind, Rachel Hill, Elizabeth E Manning, Maarten van den Buuse
Schizophrenia is a complex psychiatric disorder with a heterogeneous aetiology involving genetic and environmental factors. Deficiencies in both brain-derived neurotrophic factor (BDNF) and NMDA receptor function have been implicated in the disorder, and may play causal and synergistic roles. Perturbations in the regulation of electrophysiological signals, including high-frequency (gamma: 30-80 Hz and beta: 20-30 Hz) neuronal oscillations, are also associated with the disorder. This study investigated the influence of BDNF deficiency and NMDA receptor hypofunction on electrophysiological responses to brief acoustic stimuli...
September 19, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28925351/parenting-practices-in-middle-childhood-mediate-the-relation-between-growing-up-with-a-parent-having-bipolar-disorder-and-offspring-psychopathology-from-childhood-into-early-adulthood
#20
Vanessa Iacono, Leah Beaulieu, Sheilagh Hodgins, Mark A Ellenbogen
The offspring of parents with bipolar disorder (OBD) are at high risk for developing mental disorders. In addition to genetic factors, environmental risk is purported to be associated with these negative outcomes. However, few studies have examined this relation. Using concurrent and longitudinal data, we examined if support, structure, and control provided by parents in middle childhood mediated the relation between having a parent with or without bipolar disorder, and offspring mental health. The sample included 145 offspring (77 OBD, 68 controls) aged 4 to 14 years and their parents...
September 19, 2017: Development and Psychopathology
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