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Disorder of sex development

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https://www.readbyqxmd.com/read/28528281/risk-of-stroke-among-patients-with-borderline-personality-disorder-a-nationwide-longitudinal-study
#1
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
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/28523440/assessing-and-modifying-coronary-artery-disease-risk-in-women
#6
REVIEW
Amy Sarma, Nandita S Scott
Despite continued advances in the field, cardiovascular disease remains the leading cause of death in women in the USA with an annual mortality rate that has remained higher for women as compared to men. The factors leading to this sex difference remain incompletely understood. Likely contributors include atypical symptoms at presentation and lack of recognition of cardiovascular risk by women and their providers alike. In addition, women have a higher burden of comorbidities at the time of disease diagnosis and can have differential pathophysiological mechanisms of their acute events...
July 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28518074/eliciting-and-analyzing-male-mouse-ultrasonic-vocalization-usv-songs
#7
Jonathan Chabout, Joshua Jones-Macopson, Erich D Jarvis
Mice produce ultrasonic vocalizations (USVs) in a variety of social contexts throughout development and adulthood. These USVs are used for mother-pup retrieval(1), juvenile interactions(2), opposite and same sex interactions(3)(,)(4)(,)(5), and territorial interactions(6). For decades, the USVs have been used by investigators as proxies to study neuropsychiatric and developmental or behavioral disorders(7)(,)(8)(,)(9), and more recently to understand mechanisms and evolution of vocal communication among vertebrates(10)...
May 9, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28511686/intrathymic-injection-of-hematopoietic-progenitor-cells-establishes-functional-t-cell-development-in-a-mouse-model-of-severe-combined-immunodeficiency
#8
Andrea Z Tuckett, Raymond H Thornton, Richard J O'Reilly, Marcel R M van den Brink, Johannes L Zakrzewski
BACKGROUND: Even though hematopoietic stem cell transplantation can be curative in patients with severe combined immunodeficiency, there is a need for additional strategies boosting T cell immunity in individuals suffering from genetic disorders of lymphoid development. Here we show that image-guided intrathymic injection of hematopoietic stem and progenitor cells in NOD-scid IL2rγ(null) mice is feasible and facilitates the generation of functional T cells conferring protective immunity...
May 16, 2017: Journal of Hematology & Oncology
https://www.readbyqxmd.com/read/28508605/disorders-of-adrenal-steroidogenesis-impact-on-gonadal-function-and-sex-development
#9
Christiaan F Mooij, Antonius E van Herwaarden, Hedi L Claahsen-van der Grinten
A defect in adrenal steroidogenesis may cause a disorder of sex development (DSD). Importantly, DSD of adrenal origin is not restricted to a genital phenotype but is in most cases accompanied by mild to severe impairment in glucocorticoid and/or mineralocorticoid synthesis. If a patient is suspected of DSD of adrenal origin evaluation of glucocorticoid and mineralocorticoid metabolism is therefore essential to provide adequate medical care in the case of a severe and potentially life-threatening insufficiency...
December 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28507489/evaluation-of-the-serum-zinc-level-in-patients-with-vitiligo
#10
Majid Rostami Mogaddam, Nastaran Safavi Ardabili, Nasrollah Maleki, Mir Mehdi Chinifroush, Elham Maleki Fard
INTRODUCTION: Vitiligo is an acquired, idiopathic disorder characterized by circumscribed depigmented macules and patches, which affects approximately 0.1-2% of the general population worldwide. Zinc is an essential trace element that is necessary for growth and development at all stages of life. Some studies have reported an association between serum zinc levels and vitiligo. AIM: To measure the serum zinc level in patients with vitiligo compared to healthy subjects...
April 2017: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/28506348/-influence-of-home-nurture-environment-on-language-development-and-social-emotion-in-children-with-developmental-language-disorder
#11
Guo-Kai Li, Gui-Hua Liu, Qin-Fang Qian, Pin Ge, Yan-Qin Xie, Min-Yan Yang, Zhang-Qiong Wang, Ping Ou
OBJECTIVE: To investigate the influence of home nurture environment on language development and social emotion in children with developmental language disorder (DLD). METHODS: The 1-3 Years Child Home Nurture Environment Scale, Gesell Developmental Scale, and Infant-Toddler Social and Emotional Assessment Scale were used for the evaluation of 125 children with DLD. A total of 130 children with normal language development matched for age and sex were enrolled as control group...
May 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28506340/-endocrine-and-metabolic-features-of-female-children-with-prader-willi-syndrome-an-analysis-of-4-cases
#12
Mo-Ling Wu, Juan Li, Yu Ding, Yao Chen, Guo-Ying Chang, Xiu-Min Wang, Jian Wang, Yi-Ping Shen
This article reports the clinical features and endocrine and metabolic features of 4 children with Prader-Willi syndrome (PWS). All the patients were female and aged 6-12 years at diagnosis. All of them had clinical manifestations of obesity, unusual facies, developmental retardation, and intellectual disability. Genetic detection showed that 2 patients had paternal deletion of the 15q11.2-q13 region, one patient had maternal autodiploid in the 15q11.2-q13 region, and one patient had no abnormality in the 15q11...
May 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28504499/-transverse-vaginal-septum-diagnosed-in-sisters-cases-report
#13
Gonzalo González García, Patricia Bretón Hernández, María J Boillos Calvo, Anna Miralles Puigbert
Transverse vaginal septum is a disorder that would arise from a failure in the fusion and/or channeling of the urogenital sinus and the müllerian ducts with low frequency but with a significant impact on the health of patients. The treatment is surgical and it will depend on the location and thickness of the septum. Sometimes, it described a female sex-limited autosomal recessive transmission but few cases of family association have been reported. We present the cases of two sisters who had this rare entity 5 years apart and were diagnosed by the presentation of an intense hypogastric abdominal pain at the age of 11 and 12 years when they had a Tanner stage III pubertal development and primary amenorrhea...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28504475/map3k1-related-gonadal-dysgenesis-six-new-cases-and-review-of-the-literature
#14
Andrea Granados, Veronica I Alaniz, Lauren Mohnach, Hayk Barseghyan, Eric Vilain, Harry Ostrer, Elisabeth H Quint, Ming Chen, Catherine E Keegan
Investigation of disorders of sex development (DSD) has resulted in the discovery of multiple sex-determining genes. MAP3K1 encodes a signal transduction regulator in the sex determination pathway and is emerging as one of the more common genes responsible for 46,XY DSD presenting as complete or partial gonadal dysgenesis. Clinical assessment, endocrine evaluation, and genetic analysis were performed in six individuals from four unrelated families with 46,XY DSD. All six individuals were found to have likely pathogenic MAP3K1 variants...
May 15, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28504212/psychological-adjustment-in-parents-of-children-born-with-atypical-genitalia-one-year-after-their-child-undergoes-genitoplasty
#15
Rebecca Eh Ellens, Dana M Bakula, Alexandria J Mullins, Kristy J Scott Reyes, Paul Austin, Laurence Baskin, Kerlly Bernabé, Earl Y Cheng, Allyson Fried, Dominic Frimberger, Denise Galan, Lynette Gonzalez, Saul Greenfield, Thomas Kolon, Bradley Kropp, Yegappan Lakshmanan, Sabrina Meyer, Theresa Meyer, Larry L Mullins, Natalie J Nokoff, Blake Palmer, Dix Poppas, Alethea Paradis, Elizabeth Yerkes, Amy B Wisniewski, Cortney Wolfe-Christensen
PURPOSE: The current study examined the psychological adjustment of parents of children born with moderate to severe genital atypia 12 months after their child underwent genitoplasty. MATERIALS AND METHODS: Parents were recruited longitudinally from a multi-center collaboration of 10 pediatric hospitals with specialty care for children with a Disorder/Difference of Sex Development and/or Congenital Adrenal Hyperplasia. Parents completed measures of depressive and anxious symptoms, illness uncertainty, quality of life, post-traumatic stress, and decisional regret...
May 11, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28503313/novel-dhcr7-mutation-in-a-case-of-smith-lemli-opitz-syndrome-showing-46-xy-disorder-of-sex-development
#16
Mayuko Tamura, Tsuyoshi Isojima, Takeshi Kasama, Ryo Mafune, Konomi Shimoda, Hiroki Yasudo, Hiroyuki Tanaka, Chie Takahashi, Akira Oka, Sachiko Kitanaka
Smith-Lemli-Opitz syndrome is an autosomal recessive disease caused by mutations in 7-dehydrocholesterol reductase (DHCR7), which is rarely observed in Japan. We report a Japanese case with 46,XY disorder of sex development and Y-shaped 2-3 toe syndactyly. DHCR7 gene analysis revealed compound heterozygous mutations including the novel mutation H442R. Early diagnosis led to starting cholesterol treatment at an early age.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28502262/effects-of-combined-iugr-and-prenatal-stress-on-the-development-of-the-hippocampus-in-a-fetal-guinea-pig-model
#17
A L Cumberland, H K Palliser, P Rani, D W Walker, J J Hirst
Intrauterine growth restriction (IUGR) and maternal stress during pregnancy are two compromises that negatively impact neurodevelopment and increase the risk of developing later life neuropsychiatric disorders such as schizophrenia, depression and behavioural disorders. Neurosteroids, particularly allopregnanolone, are important in protecting the developing brain and promoting many essential neurodevelopmental processes. Individually, IUGR and prenatal stress (PS) reduce myelination and neurogenesis within affected fetal brains, however less information is available on the combined effects of these two disorders on the term fetal brain...
May 15, 2017: Journal of Developmental Origins of Health and Disease
https://www.readbyqxmd.com/read/28500965/resting-state-functional-connectivity-in-primary-insomnia-generalized-anxiety-disorder-and-controls
#18
Edward F Pace-Schott, Jared P Zimmerman, Ryan M Bottary, Erik G Lee, Mohammed R Milad, Joan A Camprodon
Sleep abnormalities are extremely common in anxiety disorders and may contribute to their development and persistence. Their shared pathophysiological mechanisms could thus serve as biomarkers or targets for novel therapeutics. Individuals with Primary Insomnia were age- and sex-matched to controls and to persons with Generalized Anxiety Disorder. All underwent fMRI resting-state scans at 3-T. In Primary Insomnia and controls, sleep was recorded for 2 weeks using diaries and actigraphy. All participants completed state-anxiety and neuroticism inventories...
May 8, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28500650/aberrant-cognitive-phenotypes-and-altered-hippocampal-bdnf-expression-related-to-epigenetic-modifications-in-mice-lacking-the-post-synaptic-scaffolding-protein-shank1-implications-for-autism-spectrum-disorder
#19
A Özge Sungur, Magdalena C E Jochner, Hani Harb, Ayşe Kılıç, Holger Garn, Rainer K W Schwarting, Markus Wöhr
Autism spectrum disorder (ASD) is a class of neurodevelopmental disorders characterized by persistent deficits in social communication/interaction, together with restricted/repetitive patterns of behavior. ASD is among the most heritable neuropsychiatric conditions, and while available evidence points to a complex set of genetic factors, the SHANK gene family has emerged as one of the most promising candidates. Here, we assessed ASD-related phenotypes with particular emphasis on social behavior and cognition in Shank1 mouse mutants in comparison to heterozygous and wildtype littermate controls across development in both sexes...
May 12, 2017: Hippocampus
https://www.readbyqxmd.com/read/28499521/investigating-clinically-and-scientifically-useful-cut-points-on-the-compulsive-sexual-behavior-inventory
#20
Michael H Miner, Nancy Raymond, Eli Coleman, Rebecca Swinburne Romine
INTRODUCTION: One of the major obstacles to conducting epidemiologic research and determining the incidence and prevalence of compulsive sexual behavior (CSB) has been the lack of relevant empirically derived cut points on the various instruments that have been used to measure the concept. AIM: To further develop the Compulsive Sexual Behavior Inventory (CSBI) through exploring predictive validity and developing an empirically determined and clinically useful cut point for defining CSB...
May 2017: Journal of Sexual Medicine
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