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Disorder of sex development

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https://www.readbyqxmd.com/read/27931301/corticosteroid-related-toxicity-in-patients-with-chronic-idiopathic-urticariachronic-spontaneous-urticaria
#1
Dennis Ledford, Michael S Broder, Evgeniya Antonova, Theodore A Omachi, Eunice Chang, Allan Luskin
BACKGROUND: Treatments for patients with chronic idiopathic urticaria (CIU)chronic spontaneous urticaria (CSU) who were unresponsive to antihistamines include oral corticosteroids (OCS). Risks of OCS-related side effects in these patients have not been described quantitatively. OBJECTIVE: To investigate the relationship between OCS use and the risk of developing side effects possibly attributable to OCS and associated health care costs in privately insured patients with CIU/CSU...
November 2016: Allergy and Asthma Proceedings:
https://www.readbyqxmd.com/read/27930697/early-antenatal-prediction-of-gestational-diabetes-in-obese-women-development-of-prediction-tools-for-targeted-intervention
#2
Sara L White, Debbie A Lawlor, Annette L Briley, Keith M Godfrey, Scott M Nelson, Eugene Oteng-Ntim, Stephen C Robson, Naveed Sattar, Paul T Seed, Matias C Vieira, Paul Welsh, Melissa Whitworth, Lucilla Poston, Dharmintra Pasupathy
All obese women are categorised as being of equally high risk of gestational diabetes (GDM) whereas the majority do not develop the disorder. Lifestyle and pharmacological interventions in unselected obese pregnant women have been unsuccessful in preventing GDM. Our aim was to develop a prediction tool for early identification of obese women at high risk of GDM to facilitate targeted interventions in those most likely to benefit. Clinical and anthropometric data and non-fasting blood samples were obtained at 15+0-18+6 weeks' gestation in 1303 obese pregnant women from UPBEAT, a randomised controlled trial of a behavioural intervention...
2016: PloS One
https://www.readbyqxmd.com/read/27930513/percutaneous-trigeminal-ganglion-radiofrequency-thermocoagulation-alleviates-anxiety-and-depression-disorders-in-patients-with-classic-trigeminal-neuralgia-a-cohort-study
#3
YuanZhang Tang, Ling Ma, Na Li, Yuna Guo, Liqiang Yang, Baishan Wu, Jianning Yue, Qi Wang, Jingjie Liu, Jia-Xiang Ni
Trigeminal neuralgia (TN) is a neurological condition that presents as excruciating facial pain. Depression and anxiety are commonly associated with TN; however, anxiety and depression disorders in patients with TN and the effects of the various therapeutic strategies for TN on these disorders are not well studied.To evaluate depression and anxiety in patients with trigeminal neuralgia (TN), identify factors that predict their occurrence and study the effect of the percutaneous trigeminal ganglion radiofrequency thermocoagulation (PRT) procedure for alleviating pain on depression and anxiety...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27929308/sex-differences-in-the-appraisal-of-traumatic-events-and-psychopathology
#4
Justyna Kucharska
OBJECTIVE: The current study is an investigation of the relationship between the appraisal of traumatic events and mental disorder symptoms: internalizing symptoms and externalizing/substance-abuse symptoms. Cumulative trauma over the lifetime was taken into account. Also, specific effects related to traumatic events of various types (i.e., betrayal trauma, accident involving a family member, physical violence, and natural disaster) were assessed. Participants, 190 young men and 277 young women, were asked to evaluate the strength with which the traumatic event impacted their lives...
December 8, 2016: Psychological Trauma: Theory, Research, Practice and Policy
https://www.readbyqxmd.com/read/27928880/a-novel-clinical-score-intertak-diagnostic-score-to-differentiate-takotsubo-syndrome-from-acute-coronary-syndrome-results-from-the-international-takotsubo-registry
#5
Jelena R Ghadri, Victoria L Cammann, Stjepan Jurisic, Burkhardt Seifert, L Christian Napp, Johanna Diekmann, Dana Roxana Bataiosu, Fabrizio D'Ascenzo, Katharina J Ding, Annahita Sarcon, Elycia Kazemian, Tanja Birri, Frank Ruschitzka, Thomas F Lüscher, Christian Templin
AIMS: Clinical presentation of takotsubo syndrome (TTS) mimics acute coronary syndrome (ACS) and does not allow differentiation. We aimed to develop a clinical score to estimate the probability of TTS and to distinguish TTS from ACS in the acute stage. METHODS AND RESULTS: Patients with TTS were recruited from the International Takotsubo Registry ( www.takotsubo-registry.com) and ACS patients from the leading hospital in Zurich. A multiple logistic regression for the presence of TTS was performed in a derivation cohort (TTS, n = 218; ACS, n = 436)...
December 7, 2016: European Journal of Heart Failure
https://www.readbyqxmd.com/read/27927631/acute-coronary-syndrome-and-suicide-a-case-referent-study
#6
Chao-Han Liu, Ming-Kung Yeh, Ji-Hung Wang, Shu-Chuan Weng, Meng-Yi Bai, Jung-Chen Chang
BACKGROUND: The high prevalence of acute coronary syndrome (ACS) represents a significant burden on healthcare resources. A robust association exists between depression and increased morbidity and mortality after ACS. This study examined the relationship between suicide and ACS after adjusting for depression and other comorbidities. METHODS AND RESULTS: In this case-referent study conducted in Taiwan, the cases were people aged 35 years or older who died from suicide between 2000 and 2012 and 4 live referents, each matched by age, sex, and area of residence...
December 7, 2016: Journal of the American Heart Association
https://www.readbyqxmd.com/read/27924235/evaluation-of-related-risk-factors-in-number-of-musculoskeletal-disorders-among-carpet-weavers-in-iran
#7
Nasim Karimi, Abbas Moghimbeigi, Majid Motamedzade, Ghodratollah Roshanaei
BACKGROUND: Musculoskeletal disorders (MSDs) are a common problem among carpet weavers. This study was undertaken to introduce affecting personal and occupational factors in developing the number of MSDs among carpet weavers. METHODS: A cross-sectional study was performed among 862 weavers in seven towns with regard to workhouse location in urban or rural regions. Data were collected by using questionnaires that contain personal, workplace, and information tools and the modified Nordic MSDs questionnaire...
December 2016: Safety and Health At Work
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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