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disorders of sex development

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https://www.readbyqxmd.com/read/28545802/attitudes-towards-disorders-of-sex-development-nomenclature-among-affected-individuals
#1
Emilie K Johnson, Ilina Rosoklija, Courtney Finlayson, Diane Chen, Elizabeth B Yerkes, Mary Beth Madonna, Jane L Holl, Arlene B Baratz, Georgiann Davis, Earl Y Cheng
INTRODUCTION: Although now commonly used in medicine, the updated "disorders of sex development" (DSD) nomenclature formally introduced in 2006 has never been universally accepted by members of the affected community, particularly advocacy groups. Use of this nomenclature by medical professionals may unintentionally negatively affect access to healthcare and research for individuals with DSD conditions. OBJECTIVE: Among individuals affected by various DSD diagnoses, this study sought to (1) evaluate attitudes towards potentially controversial DSD terminology, (2) determine potential impact of terminology on how affected individuals access healthcare, and (3) explore alternate terms...
May 8, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28545654/genetic-approach-to-ambiguous-genitalia-and-disorders-of-sex-development-what-clinicians-need-to-know
#2
Svetlana A Yatsenko, Selma Feldman Witchel
Genetic tools such as microarray and next-generation sequencing have initiated a new era for the diagnosis and management of patients with disorders of sex development (DSDs). These tools supplement the traditional approach to the evaluation and care of infants, children, and adolescents with DSDs. These tests can detect genetic variations known to be associated with DSDs, discover novel genetic variants, and elucidate novel mechanisms of gene regulation. Herein, we discuss these tests and their role in the management of patients with DSDs...
May 22, 2017: Seminars in Perinatology
https://www.readbyqxmd.com/read/28545449/quantifying-the-global-contribution-of-alcohol-consumption-to-cardiomyopathy
#3
Jakob Manthey, Sameer Imtiaz, Maria Neufeld, Margaret Rylett, Jürgen Rehm
BACKGROUND: The global impact of alcohol consumption on deaths due to cardiomyopathy (CM) has not been quantified to date, even though CM contains a subcategory for alcoholic CM with an effect of heavy drinking over time as the postulated underlying causal mechanism. In this feasibility study, a model to estimate the alcohol-attributable fraction (AAF) of CM deaths based on alcohol exposure measures is proposed. METHODS: A two-step model was developed based on aggregate-level data from 95 countries, including the most populous (data from 2013 or last available year)...
May 25, 2017: Population Health Metrics
https://www.readbyqxmd.com/read/28545101/family-aggregation-and-risk-factors-in-substance-use-disorders-over-three-generations-in-a-nation-wide-study
#4
Hans-Christoph Steinhausen, Helle Jakobsen, Povl Munk-Jørgensen
OBJECTIVE: This nation-wide register-based study investigated how often substance use disorders (SUD) and co-morbid disorders occurred in affected families compared to control families. METHOD: A total of N = 2504 child and adolescent psychiatric participants who were born between 1969 and 1986 and were registered in the Danish Psychiatric Central Research Register (DPCRR) had a mental disorder before the age of 18 and developed SUD at some point during their life-time...
2017: PloS One
https://www.readbyqxmd.com/read/28544750/unexpected-ethical-dilemmas-in-sex-assignment-in-46-xy-dsd-due-to-5-alpha-reductase-type-2-deficiency
#5
Heather M Byers, Lauren H Mohnach, Patricia Y Fechner, Ming Chen, Inas H Thomas, Linda A Ramsdell, Margarett Shnorhavorian, Elizabeth A McCauley, Anne-Marie E Amies Oelschlager, John M Park, David E Sandberg, Margaret P Adam, Catherine E Keegan
Sex assignment at birth remains one of the most clinically challenging and controversial topics in 46,XY disorders of sexual development (DSD). This is particularly challenging in deficiency of 5-alpha reductase type 2 given that external genitalia are typically undervirilized at birth but typically virilize at puberty to a variable degree. Historically, most individuals with 5-alpha reductase deficiency were raised females. However, reports that over half of patients who underwent a virilizing puberty adopted an adult male gender identity have challenged this practice...
May 25, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28544433/gynecological-challenges-in-the-diagnosis-and-care-of-patients-with-dsd-the-role-of-the-obstetrician-gynecologist-in-the-multidisciplinary-approach-to-the-patient
#6
Veronica Gomez-Lobo, Anne-Marie Amies Oelschlager
Disorders (differences) of sex development (DSD) are identified when there is atypical chromosomal, gonadal, or anatomic sex. Given the complexity of DSD conditions, the consensus guidelines recommend that affected individuals be evaluated and cared for by teams with expertise in DSD conditions. Obstetrician gynecologists are experts in genital and reproductive anatomy, hormonal function, fertility, sexuality, and obstetrics, allowing them to provide a unique and essential function within the DSD team. Furthermore, obstetrician gynecologists with expertise in Pediatric and Adolescent Gynecology may follow individuals from birth into adulthood and provide reproductive health care for all ages, allowing these patients to "grow up" with them...
May 25, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28542383/performance-in-eyeblink-conditioning-is-age-and-sex-dependent
#7
Karolina Löwgren, Rasmus Bååth, Anders Rasmussen, Henk-Jan Boele, Sebastiaan K E Koekkoek, Chris I De Zeeuw, Germund Hesslow
A growing body of evidence suggests that the cerebellum is involved in both cognition and language. Abnormal cerebellar development may contribute to neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD), autism, fetal alcohol syndrome, dyslexia, and specific language impairment. Performance in eyeblink conditioning, which depends on the cerebellum, can potentially be used to clarify the neural mechanisms underlying the cerebellar dysfunction in disorders like these. However, we must first understand how the performance develops in children who do not have a disorder...
2017: PloS One
https://www.readbyqxmd.com/read/28542256/maternal-depression-and-anxiety-disorders-mdad-and-child-development-a-manitoba-population-based-study
#8
Brenda Comaskey, Noralou P Roos, Marni Brownell, Murray W Enns, Dan Chateau, Chelsea A Ruth, Okechukwu Ekuma
OBJECTIVE: To examine the association between maternal depression and anxiety disorders (MDAD) and child development assessed during the kindergarten year. METHODS: Administrative data from several health and social databases in Manitoba, Canada, were used to study 18,331 mother-child pairs. MDAD over the period from one year prior to the child's birth to the kindergarten year was defined using physician diagnoses and filled prescriptions. Child development was assessed during the kindergarten year using the Early Development Instrument (EDI) which measures vulnerability across five domains of development...
2017: PloS One
https://www.readbyqxmd.com/read/28541236/attention-deficit-hyperactivity-disorder-adhd-symptoms-and-cognitive-skills-of-preschool-children
#9
L Thomaidis, A Choleva, M Janikian, G Bertou, A Tsitsika, G Giannakopoulos, D C Anagnostopoulos
Attention deficit/hyperactivity disorder (ADHD) constitutes a neurobehavioral disorder which may potentially adversely affect children's wellbeing and academic achievement. The onset of symptoms is present prior to 12 years of age, and often the symptoms are evident in the preschool years. In fact, it has been suggested that screening for ADHD symptoms may be initiated as early as four years of age. Preschool children with ADHD have been shown to present with poor pre-academic skills and might be at increased risk for numerous school-related problems, including functional impairment during elementary school years and persistent poor academic performance thereafter...
January 2017: Psychiatrikē, Psychiatriki
https://www.readbyqxmd.com/read/28538409/a-case-report-of-pedigree-of-a-homozygous-mutation-of-the-steroidogenic-acute-regulatory-protein-causing-lipoid-congenital-adrenal-hyperplasia
#10
Rong Fu, Lin Lu, Jun Jiang, Min Nie, Xiaojing Wang, Zhaolin Lu
RATIONALE: Lipoid congenital adrenal hyperplasia (LCAH) is extremely rare, but is the most fatal form of congenital adrenal hyperplasia resulting from mutations in the steroidogenic acute regulatory protein (STAR) gene. LCAH arises from severe defects in the conversion of cholesterol to pregnenolone, the precursor of all steroids. PATIENT CONCERNS: A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28536974/neonatal-immune-challenge-with-lipopolysaccharide-triggers-long-lasting-sex-and-age-related-behavioral-and-immune-neurotrophic-alterations-in-mice-relevance-to-autism-spectrum-disorders
#11
Charllyany Sabino Custódio, Bruna Stefânia Ferreira Mello, Adriano José Maia Chaves Filho, Camila Nayane de Carvalho Lima, Rafaela Carneiro Cordeiro, Fábio Miyajima, Gislaine Z Réus, Silvânia Maria Mendes Vasconcelos, Tatiana Barichello, João Quevedo, Antônio Carlos de Oliveira, David Freitas de Lucena, Danielle S Macedo
Early-life challenges, particularly infections and stress, are related to neuropsychiatric disorders such as autism and schizophrenia. Here, we conducted a wide range of behavioral tests in periadolescent (postnatal day (PN) 35) and adult (PN70) Swiss mice neonatally challenged with LPS on PN5 and -7, to unveil behavioral alterations triggered by LPS exposure. Immune and neurotrophic (brain-derived neurotrophic factor-BDNF) alterations were determined in the prefrontal cortex (PFC), hippocampus (HC), and hypothalamus (HT)...
May 23, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28536745/health-related-quality-of-life-in-adult-patients-with-common-variable-immunodeficiency-disorders-and-impact-of-treatment
#12
Nicholas L Rider, Carleigh Kutac, Joud Hajjar, Chris Scalchunes, Filiz O Seeborg, Marcia Boyle, Jordan S Orange
PURPOSE: Common variable immunodeficiency disorder (CVID) is a primary immunodeficiency disease (PIDD) often associated with severe and chronic infections. Patients commonly receive immunoglobulin (Ig) treatment to reduce the cycle of recurrent infection and improve physical functioning. However, how Ig treatment in CVID affects quality of life (QOL) has not been thoroughly evaluated. The purpose of a recent Immune Deficiency Foundation (IDF) mail survey was to assess the factors that are associated with QOL in patients with CVID receiving Ig treatment...
May 23, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28536274/mapping-22q11-2-gene-dosage-effects-on-brain-morphometry
#13
Amy Lin, Christopher R K Ching, Ariana Vajdi, Daqiang Sun, Rachel K Jonas, Maria Jalbrzikowski, Leila Kushan-Wells, Laura Pacheco Hansen, Emma Krikorian, Boris Gutman, Deepika Dokoru, Gerhard Helleman, Paul M Thompson, Carrie E Bearden
Reciprocal chromosomal rearrangements at the 22q11.2 locus are associated with elevated risk of neurodevelopmental disorders. The 22q11.2 deletion confers the highest known genetic risk for schizophrenia, but a duplication in the same region is strongly associated with autism and is less common in schizophrenia cases than in the general population. Here we conducted the first study of 22q11.2 gene dosage effects on brain structure in a sample of 143 human subjects: 66 with 22q11.2 deletions (22q-del; 32 males), 21 with 22q11...
May 23, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28535943/pragmatic-approach-to-intersex-including-genital-ambiguity-in-the-newborn
#14
Kanthi Bangalore Krishna, Christopher P Houk, Peter A Lee
The evaluation and management of a newborn with ambiguous genitalia must be undertaken as quickly as possible and with great sensitivity for the child's family. Where possible, a comprehensive team approach with a pediatric urologist, endocrinologist, geneticist, neonatologist, and child psychiatrist/psychologist should work closely with the family to establish the diagnosis and determine gender. Although the preferred gender assignment is not always clear, a thorough examination of endocrine function, karyotype, and potential for fertility should guide the determination...
May 20, 2017: Seminars in Perinatology
https://www.readbyqxmd.com/read/28528563/chronic-obstructive-pulmonary-disease-associated-with-increased-risk-of-bipolar-disorder
#15
Vincent Yi-Fong Su, Li-Yu Hu, Chiu-Mei Yeh, Huey-Ling Chiang, Cheng-Che Shen, Kun-Ta Chou, Tzeng-Ji Chen, Ti Lu, Cheng-Hwai Tzeng, Chia-Jen Liu
Epidemiological studies have identified a trend in the development of depressive and anxiety disorders following a diagnosis of chronic obstructive pulmonary disease (COPD). However, the relationship between COPD and subsequent bipolar disorder remains unclear. From January 1, 2000, we identified adult patients with COPD from the Taiwan National Health Insurance Research Database. A nationwide population-based study was conducted; 46,778 COPD patients and 46,778 age-, sex-, and comorbidity-matched subjects between 2000 and 2011 were enrolled...
May 2017: Chronic Respiratory Disease
https://www.readbyqxmd.com/read/28528281/risk-of-stroke-among-patients-with-borderline-personality-disorder-a-nationwide-longitudinal-study
#16
Mu-Hong Chen, Ju-Wei Hsu, Ya-Mei Bai, Tung-Ping Su, Cheng-Ta Li, Wei-Chen Lin, Shih-Jen Tsai, Wen-Han Chang, Tzeng-Ji Chen, Kai-Lin Huang
BACKGROUND: Previous studies suggested that patients with borderline personality disorder (BPD) had a higher prevalence of stroke-related risk factors, such as hypertension, dyslipidemia, and diabetes mellitus. But, the association between BPD and subsequent stroke has been rarely investigated. METHODS: Using the Taiwan National Health Insurance Research Database, 5969 borderline patients aged 18 years and older and 23,876 age-and sex-matched controls were enrolled between 2002 and 2009, and followed up to the end of 2011 to identify the development of stroke...
May 8, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28527693/two-hit-model-of-schizophrenia-induced-by-neonatal-immune-activation-and-peripubertal-stress-in-rats-study-of-sex-differences-and-brain-oxidative-alterations
#17
Aline Santos Monte, Bruna Stefânia Ferreira Mello, Vládia Célia Moreira Borella, Tatiane da Silva Araujo, Francisco Eliclécio Rodrigues da Silva, Francisca Cléa F de Sousa, Antônio Carlos Pinheiro de Oliveira, Clarissa Severino Gama, Mary V Seeman, Silvânia Maria Mendes Vasconcelos, David Freitas De Lucena, Danielle Macêdo
Schizophrenia is considered to be a developmental disorder with distinctive sex differences. Aiming to simulate the vulnerability of the third trimester of human pregnancy to the developmental course of schizophrenia, an animal model was developed, using neonatal poly(I:C) as a first-hit, and peripubertal stress as a second-hit, i.e. a two-hit model. Since, to date, there have been no references to sex differences in the two-hit model, our study sought to determine sex influences on the development of behavior and brain oxidative change in adult rats submitted to neonatal exposure to poly(I:C) on postnatal days 5-7 as well as peripubertal unpredictable stress (PUS)...
May 17, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28525585/the-effects-of-gender-on-electrical-therapies-for-the-heart-physiology-epidemiology-and-access-to-therapies-a-report-from-the-xii-congress-of-the-italian-association-on-arrhythmology-and-cardiostimulation-aiac
#18
Giuseppe Boriani, Stefano Lorenzetti, Elisabetta Cerbai, Giuseppe Oreto, Gabriele Bronzetti, Vincenzo Livio Malavasi, Alessandro Biffi, Luigi Padeletti, Gianluca Botto, Igor Diemberger
The difference between men and women is clear even just by looking at an electrocardiogram: females present higher resting heart rate, a shorter QRS complex length and greater corrected QT interval. The development of these differences from pubertal age onward suggests that sexual hormones play a key role, although their effect is far from being completely understood. Different incidences between sexes have been reported for many arrhythmias, both ventricular and supraventricular, and also for sudden cardiac death...
May 19, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28525341/morphological-analysis-of-testicles-in-cats-with-disorders-of-sex-development
#19
S Dzimira, W Nizanski, J A Madej
Disorders of sex development (DSD) are rare in cats. They can be caused by chromosomal aberrations, gene mutations or other undefined factors. The aim of the present study was to compare the histological structure and immunohistochemical reactivity of testes in cats with DSD and in healthy cats. The research material consisted of the gonads of four cats - phenotypic males with an incorrect structure of the reproductive system. The control group consisted of the testes of four healthy cats - routinely castrated phenotypical males...
March 28, 2017: Polish Journal of Veterinary Sciences
https://www.readbyqxmd.com/read/28524230/the-etiology-of-autistic-traits-in-preschoolers-a-population-based-twin-study
#20
Eveline L de Zeeuw, Catharina E M van Beijsterveldt, Rosa A Hoekstra, Meike Bartels, Dorret I Boomsma
BACKGROUND: Autism Spectrum Disorders (ASD) are highly heritable, but the exact etiological mechanisms underlying the condition are still unclear. METHODS: Using a multiple rater twin design in a large sample of general population preschool twins, this study aimed to (a) estimate the contribution of genetic and environmental factors to autistic traits, controlling for the possible effects of rater bias, (b) to explore possible sex differences in etiology and (c) to investigate the discordance in autistic traits in monozygotic and same-sex dizygotic twin pairs...
May 19, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
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