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disorders of sex development

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https://www.readbyqxmd.com/read/27919738/long-term-ethanol-self-administration-induces-%C3%AE-fosb-in-male-and-female-adolescent-but-not-in-adult-wistar-rats
#1
Aranza Wille-Bille, Soledad de Olmos, Leonardo Marengo, Florencia Chiner, Ricardo Marcos Pautassi
Early-onset ethanol consumption predicts later development of alcohol use disorders. Age-related differences in reactivity to ethanol's effects may underlie this effect. Adolescent rats are more sensitive and less sensitive than adults to the appetitive and aversive behavioral effects of ethanol, respectively, and more sensitive to the neurotoxic effects of experimenter-administered binge doses of ethanol. However, less is known about age-related differences in the neural consequences of self-administered ethanol...
December 2, 2016: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/27918926/childhood-adversity-impacts-on-brain-subcortical-structures-relevant-to-depression
#2
Thomas Frodl, Deborah Janowitz, Lianne Schmaal, Leonardo Tozzi, Henrik Dobrowolny, Dan J Stein, Dick J Veltman, Katharina Wittfeld, Theo G M van Erp, Neda Jahanshad, Andrea Block, Katrin Hegenscheid, Henry Völzke, Jim Lagopoulos, Sean N Hatton, Ian B Hickie, Eva Maria Frey, Angela Carballedo, Samantha J Brooks, Daniella Vuletic, Anne Uhlmann, Ilya M Veer, Henrik Walter, Knut Schnell, Dominik Grotegerd, Volker Arolt, Harald Kugel, Elisabeth Schramm, Carsten Konrad, Bartosz Zurowski, Bernhard T Baune, Nic J A van der Wee, Marie-Jose van Tol, Brenda W J H Penninx, Paul M Thompson, Derrek P Hibar, Udo Dannlowski, Hans J Grabe
Childhood adversity plays an important role for development of major depressive disorder (MDD). There are differences in subcortical brain structures between patients with MDD and healthy controls, but the specific impact of childhood adversity on such structures in MDD remains unclear. Thus, aim of the present study was to investigate whether childhood adversity is associated with subcortical volumes and how it interacts with a diagnosis of MDD and sex. Within the ENIGMA-MDD network, nine university partner sites, which assessed childhood adversity and magnetic resonance imaging in patients with MDD and controls, took part in the current joint mega-analysis...
November 19, 2016: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/27916394/hypoactive-sexual-desire-disorder-international-society-for-the-study-of-women-s-sexual-health-isswsh-expert-consensus-panel-review
#3
REVIEW
Irwin Goldstein, Noel N Kim, Anita H Clayton, Leonard R DeRogatis, Annamaria Giraldi, Sharon J Parish, James Pfaus, James A Simon, Sheryl A Kingsberg, Cindy Meston, Stephen M Stahl, Kim Wallen, Roisin Worsley
The objective of the International Society for the Study of Women's Sexual Health expert consensus panel was to develop a concise, clinically relevant, evidence-based review of the epidemiology, physiology, pathogenesis, diagnosis, and treatment of hypoactive sexual desire disorder (HSDD), a sexual dysfunction affecting approximately 10% of adult women. Etiologic factors include conditions or drugs that decrease brain dopamine, melanocortin, oxytocin, and norepinephrine levels and augment brain serotonin, endocannabinoid, prolactin, and opioid levels...
November 30, 2016: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/27915987/sex-differences-in-alcohol-use-disorder
#4
Roberta Agabio, Claudia Pisanu, Gian Luigi Gessa, Flavia Franconi
BACKGROUND: Alcohol use disorder (AUD) is a common and disabling mental disorder associated with a significant burden of medical consequences and high socioeconomic costs. Although a growing number of studies support the existence of sex differences in several aspects of alcohol consumption and AUD, the majority of investigations have been conducted in men. OBJECTIVE: This article was aimed at reviewing sex differences in AUD, focusing on epidemiology, neurobiology, pharmacokinetics, susceptibility to medical consequences, and treatment...
December 1, 2016: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/27915330/mechanism-of-sex-determination-in-humans-insights-from-disorders-of-sex-development
#5
Anu Bashamboo, Ken McElreavey
In this review we will consider the gene mutations responsible for the non-syndromic forms of disorders of sex development (DSD) and how recent genetic findings are providing insights into the mechanism of sex determination. High-throughput sequencing technologies are having a major impact on our understanding of the genetic basis of rare human disorders, including DSD. The study of human DSD is progressively revealing subtle differences in the genetics of the sex-determining system between the mouse and the human...
December 3, 2016: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/27914918/epigenetic-game-theory-how-to-compute-the-epigenetic-control-of-maternal-to-zygotic-transition
#6
REVIEW
Qian Wang, Kirk Gosik, Sujuan Xing, Libo Jiang, Lidan Sun, Vernon M Chinchilli, Rongling Wu
Epigenetic reprogramming is thought to play a critical role in maintaining the normal development of embryos. How the methylation state of paternal and maternal genomes regulates embryogenesis depends on the interaction and coordination of the gametes of two sexes. While there is abundant research in exploring the epigenetic interactions of sperms and oocytes, a knowledge gap exists in the mechanistic quantitation of these interactions and their impact on embryo development. This review aims at formulating a modeling framework to address this gap through the integration and synthesis of evolutionary game theory and the latest discoveries of the epigenetic control of embryo development by next-generation sequencing...
November 9, 2016: Physics of Life Reviews
https://www.readbyqxmd.com/read/27908278/comparison-of-predictors-of-hip-fracture-and-mortality-after-hip-fracture-in-community-dwellers-with-and-without-alzheimer-s-disease-exposure-matched-cohort-study
#7
Anna-Maija Tolppanen, Heidi Taipale, Antti Tanskanen, Jari Tiihonen, Sirpa Hartikainen
BACKGROUND: Dementia, with Alzheimer's disease (AD) being the most common form, is a major hip fracture risk factor, but currently it is not known whether the same factors predict hip fracture among persons with and without dementia/AD. We compared the predictors of hip fracture and mortality after hip fracture in persons with and without AD. METHODS: An exposure-matched cohort of all community-dwellers of Finland who received a new clinically verified AD diagnosis in 2005-2011 and had no history of previous hip fracture (N = 67,072) and an age, sex, and region-matched cohort of persons without AD (N = 67,072)...
December 1, 2016: BMC Geriatrics
https://www.readbyqxmd.com/read/27899884/the-inverse-relationship-between-the-microstructural-variability-of-amygdala-prefrontal-pathways-and-trait-anxiety-is-moderated-by-sex
#8
M Justin Kim, Annemarie C Brown, Alison M Mattek, Samantha J Chavez, James M Taylor, Amy L Palmer, Yu-Chien Wu, Paul J Whalen
Anxiety impacts the quality of everyday life and may facilitate the development of affective disorders, possibly through concurrent alterations in neural circuitry. Findings from multimodal neuroimaging studies suggest that trait-anxious individuals may have a reduced capacity for efficient communication between the amygdala and the ventral prefrontal cortex (vPFC). A diffusion-weighted imaging protocol with 61 directions was used to identify lateral and medial amygdala-vPFC white matter pathways. The structural integrity of both pathways was inversely correlated with self-reported levels of trait anxiety...
2016: Frontiers in Systems Neuroscience
https://www.readbyqxmd.com/read/27899716/behavioral-and-emotional-problems-in-high-functioning-girls-and-boys-with-autism-spectrum-disorders-parents-reports-and-adolescents-self-reports
#9
Ewa Pisula, Monika Pudło, Monika Słowińska, Rafał Kawa, Magdalena Strząska, Anna Banasiak, Tomasz Wolańczyk
The purpose of this study was to investigate sex differences in behavioral and emotional problems in high-functioning girls and boys with autism spectrum disorder. The results obtained by adolescents with autism spectrum disorder were compared with those of typically developing girls and boys. Correlations between parents' and adolescents' ratings were also analyzed. Participants were 35 girls and 35 boys with autism spectrum disorder, aged 11-18 years, matched for chronological age and full-scale IQ. The control group consisted of 24 typically developing girls and 24 boys of the same age and IQ...
November 29, 2016: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/27899709/the-art-of-camouflage-gender-differences-in-the-social-behaviors-of-girls-and-boys-with-autism-spectrum-disorder
#10
Michelle Dean, Robin Harwood, Connie Kasari
This study examined the extent to which gender-related social behaviors help girls with autism spectrum disorder to seemingly mask their symptoms. Using concurrent mixed methods, we examined the social behaviors of 96 elementary school children during recess (autism spectrum disorder = 24 girls and 24 boys, typically developing = 24 girls and 24 boys). Children with autism spectrum disorder had average intelligence (IQ ⩾ 70), a confirmed diagnosis, and were educated in the general education classroom...
November 29, 2016: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/27899708/sex-differences-in-the-reciprocal-behaviour-of-children-with-autism
#11
Tineke Backer van Ommeren, Hans M Koot, Anke M Scheeren, Sander Begeer
Differences in the social limitations of girls compared to boys on the autism spectrum are still poorly understood. Impaired social-emotional reciprocity is a core diagnostic criterion for an autism spectrum disorder. This study compares sex differences in reciprocal behaviour in children with autism spectrum disorder (32 girls, 114 boys) and in typically developing children (24 girls, 55 boys). While children with autism spectrum disorder showed clear limitations in reciprocal behaviour compared to typically developing children, sex differences were found only in the autism spectrum disorder group: girls with autism spectrum disorder had higher reciprocity scores than boys with autism spectrum disorder...
November 29, 2016: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/27899157/disorders-of-sex-development-insights-from-targeted-gene-sequencing-of-a-large-international-patient-cohort
#12
Stefanie Eggers, Simon Sadedin, Jocelyn A van den Bergen, Gorjana Robevska, Thomas Ohnesorg, Jacqueline Hewitt, Luke Lambeth, Aurore Bouty, Ingrid M Knarston, Tiong Yang Tan, Fergus Cameron, George Werther, John Hutson, Michele O'Connell, Sonia R Grover, Yves Heloury, Margaret Zacharin, Philip Bergman, Chris Kimber, Justin Brown, Nathalie Webb, Matthew F Hunter, Shubha Srinivasan, Angela Titmuss, Charles F Verge, David Mowat, Grahame Smith, Janine Smith, Lisa Ewans, Carolyn Shalhoub, Patricia Crock, Chris Cowell, Gary M Leong, Makato Ono, Antony R Lafferty, Tony Huynh, Uma Visser, Catherine S Choong, Fiona McKenzie, Nicholas Pachter, Elizabeth M Thompson, Jennifer Couper, Anne Baxendale, Jozef Gecz, Benjamin J Wheeler, Craig Jefferies, Karen MacKenzie, Paul Hofman, Philippa Carter, Richard I King, Csilla Krausz, Conny M A van Ravenswaaij-Arts, Leendert Looijenga, Sten Drop, Stefan Riedl, Martine Cools, Angelika Dawson, Achmad Zulfa Juniarto, Vaman Khadilkar, Anuradha Khadilkar, Vijayalakshmi Bhatia, Vũ Chí Dũng, Irum Atta, Jamal Raza, Nguyen Thi Diem Chi, Tran Kiem Hao, Vincent Harley, Peter Koopman, Garry Warne, Sultana Faradz, Alicia Oshlack, Katie L Ayers, Andrew H Sinclair
BACKGROUND: Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic diagnosis. To address this we have developed a massively parallel sequencing targeted DSD gene panel which allows us to sequence all 64 known diagnostic DSD genes and candidate genes simultaneously. RESULTS: We analyzed DNA from the largest reported international cohort of patients with DSD (278 patients with 46,XY DSD and 48 with 46,XX DSD)...
November 29, 2016: Genome Biology
https://www.readbyqxmd.com/read/27899089/familial-forms-of-disorders-of-sex-development-may-be-common-if-infertility-is-considered-a-comorbidity
#13
Raja Brauner, Flavia Picard-Dieval, Henri Lottmann, Sébastien Rouget, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey
BACKGROUND: Families with 46,XY Disorders of Sex Development (DSD) have been reported, but they are considered to be exceptionally rare, with the exception of the familial forms of disorders affecting androgen synthesis or action. The families of some patients with anorchia may include individuals with 46,XY gonadal dysgenesis. We therefore analysed a large series of patients with 46,XY DSD or anorchia for the occurrence in their family of one of these phenotypes and/or ovarian insufficiency and/or infertility and/or cryptorchidism...
November 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27898583/genetic-control-of-postnatal-human-brain-growth
#14
Laura I van Dyck, Eric M Morrow
PURPOSE OF REVIEW: Studies investigating postnatal brain growth disorders inform the biology underlying the development of human brain circuitry. This research is becoming increasingly important for the diagnosis and treatment of childhood neurodevelopmental disorders, including autism and related disorders. Here, we review recent research on typical and abnormal postnatal brain growth and examine potential biological mechanisms. RECENT FINDINGS: Clinically, brain growth disorders are heralded by diverging head size for a given age and sex, but are more precisely characterized by brain imaging, post-mortem analysis, and animal model studies...
November 24, 2016: Current Opinion in Neurology
https://www.readbyqxmd.com/read/27898418/rapid-molecular-genetic-diagnosis-with-next-generation-sequencing-in-46-xy-disorders-of-sex-development-cases-efficiency-and-cost-assessment
#15
Samim Özen, Hüseyin Onay, Tahir Atik, Aslı Ece Solmaz, Ferda Özkınay, Damla Gökşen, Şükran Darcan
BACKGROUND/AIM: The aim of this study was to use targeted next-generation sequencing (TNGS) including all known genes associated with 46,XY disorders of sex development (DSD) for a fast molecular genetic diagnosis. METHODS: Twenty pediatric patients were recruited, and 56 genes related to 46,XY DSD were sequenced using TNGS. The time elapsed between initial appointment and final diagnosis as well as the mean expenditure was determined. RESULTS: A total of 9 (45%) mutations in 4 different genes were identified...
November 30, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27895064/risk-of-obstructive-sleep-apnoea-in-patients-with-rheumatoid-arthritis-a-nationwide-population-based-retrospective-cohort-study
#16
Te-Chun Shen, Liang-Wen Hang, Shinn-Jye Liang, Chien-Chung Huang, Cheng-Li Lin, Chih-Yen Tu, Te-Chun Hsia, Chuen-Ming Shih, Wu-Huei Hsu, Fung-Chang Sung
OBJECTIVE: Sleep disorders are prevalent medical disorders in patients with rheumatoid arthritis (RA). However, whether patients with RA are at an increased risk of developing obstructive sleep apnoea (OSA) is unclear. DESIGN: Using population-based retrospective cohort study to examine the risk of OSA in patients with RA. SETTING: We used claims data of the National Health Insurance Research Database (NHIRD) of Taiwan. PARTICIPANTS: We identified a RA cohort with 33 418 patients newly diagnosed in 2000-2010 and a randomly selected non-RA comparison cohort with 33 418 individuals frequency matched by sex, age and diagnosis year...
November 28, 2016: BMJ Open
https://www.readbyqxmd.com/read/27893657/status-of-serum-magnesium-in-egyptian-children-with-type-1-diabetes-and-its-correlation-to-glycemic-control-and-lipid-profile
#17
Doaa Shahbah, Amr Abo El Naga, Tamer Hassan, Marwa Zakaria, Mohamed Beshir, Salah Al Morshedy, Mohamed Abdalhady, Ezzat Kamel, Doaa Abdel Rahman, Lamiaa Kamel, May Abdelkader
Diabetes mellitus has been suggested to be the most common metabolic disorder associated with magnesium deficiency, having 25% to 39% prevalence. This deficit could be associated with the development of late diabetic complications, especially macroangiopathy.We aimed to evaluate the status of serum Mg in children with type 1 diabetes and assess its relation to glycemic control and lipid profile.We included 71 Egyptian children with type 1diabetes having their follow-up at Pediatric Endocrinology outpatient clinic, Zagazig University Hospital and 71 age- and sex-matched control...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27892720/association-between-chronic-pancreatitis-and-pyogenic-liver-abscess-a-nationwide-population-study
#18
Chih-Wei Tseng, Yu-Tso Chen, Cheng-Li Lin, Ji-An Liang
BACKGROUND: The relationship between chronic pancreatitis (CP) and subsequent pyogenic liver abscess (PLA) is not well understood. METHODS: We investigated the risk of PLA in patients with CP using inpatient claims data from the Taiwan National Health Insurance Program for the period 2000-2010, we identified 17,810 patients with chronic pancreatitis (CP group) and 71,240 patients without CP (non-CP group). Both cohorts were followed until a diagnosis of PLA, until they were censored from the study because of loss to follow-up, death, or termination of insurance, or until the study cut-off date of December 31, 2011...
November 28, 2016: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/27891212/the-role-of-sex-differential-biology-in-risk-for-autism-spectrum-disorder
#19
REVIEW
Donna M Werling
Autism spectrum disorder (ASD) is a developmental condition that affects approximately four times as many males as females, a strong sex bias that has not yet been fully explained. Understanding the causes of this biased prevalence may highlight novel avenues for treatment development that could benefit patients with diverse genetic backgrounds, and the expertise of sex differences researchers will be invaluable in this endeavor. In this review, I aim to assess current evidence pertaining to the sex difference in ASD prevalence and to identify outstanding questions and remaining gaps in our understanding of how males come to be more frequently affected and/or diagnosed with ASD...
2016: Biology of Sex Differences
https://www.readbyqxmd.com/read/27889598/association-between-antipsychotic-drug-use-and-cataracts-in-patients-with-bipolar-disorder-a-population-based-nested-case-control-study
#20
Che-Sheng Chu, Po-Han Chou, Yi-Huei Chen, Min-Wei Huang, Min-Yen Hsu, Tsuo-Hung Lan, Ching-Heng Lin
BACKGROUND: No previous study has focused on the association between use of antipsychotic drugs and the development of cataracts in patients with bipolar disorder (BD); hence, we aimed to examine this association in the present study. METHODS: We conducted a retrospective nested case-control study using data from the National Health Insurance Database of Taiwan between 2000 and 2011. A total of 3292 BD patients, 1684 with cataracts and 1608 controls matched for age, sex, and index date, were included...
November 19, 2016: Journal of Affective Disorders
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