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https://www.readbyqxmd.com/read/28634363/long-term-health-outcomes-in-patients-with-prader-willi-syndrome-a-nationwide-cohort-study-in-denmark
#1
E Hedgeman, S P Ulrichsen, S Carter, N C Kreher, K P Malobisky, M M Braun, J Fryzek, M S Olsen
BACKGROUND: Prader-Willi syndrome (PWS) is a rare congenital disease that affects growth, sexual development, cognitive function and behavior. Individuals exhibit food preoccupation and hyperphagia, which may lead to obesity with premature morbidity and mortality. The aim of this work was to evaluate the risk of venous thromboembolisms (VTE), myocardial infarction, pulmonary hypertension, sleep apnea, depression, anxiety and all-cause mortality among persons with PWS as compared to an age- and sex-matched general population cohort...
June 21, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28626787/5-ht2a-receptor-deficiency-alters-the-metabolic-and-transcriptional-but-not-the-behavioral-consequences-of-chronic-unpredictable-stress
#2
Minal Jaggar, Noelia Weisstaub, Jay A Gingrich, Vidita A Vaidya
Chronic stress enhances risk for psychiatric disorders, and in animal models is known to evoke depression-like behavior accompanied by perturbed neurohormonal, metabolic, neuroarchitectural and transcriptional changes. Serotonergic neurotransmission, including serotonin2A (5-HT2A) receptors, have been implicated in mediating specific aspects of stress-induced responses. Here we investigated the influence of chronic unpredictable stress (CUS) on depression-like behavior, serum metabolic measures, and gene expression in stress-associated neurocircuitry of the prefrontal cortex (PFC) and hippocampus in 5-HT2A receptor knockout (5-[Formula: see text]) and wild-type mice of both sexes...
December 2017: Neurobiology of Stress
https://www.readbyqxmd.com/read/28625214/post-traumatic-stress-disorder-associated-with-sexual-assault-among-women-in-the-who-world-mental-health-surveys
#3
K M Scott, K C Koenen, A King, M V Petukhova, J Alonso, E J Bromet, R Bruffaerts, B Bunting, P de Jonge, J M Haro, E G Karam, S Lee, M E Medina-Mora, F Navarro-Mateu, N A Sampson, V Shahly, D J Stein, Y Torres, A M Zaslavsky, R C Kessler
BACKGROUND: Sexual assault is a global concern with post-traumatic stress disorder (PTSD), one of the common sequelae. Early intervention can help prevent PTSD, making identification of those at high risk for the disorder a priority. Lack of representative sampling of both sexual assault survivors and sexual assaults in prior studies might have reduced the ability to develop accurate prediction models for early identification of high-risk sexual assault survivors. METHODS: Data come from 12 face-to-face, cross-sectional surveys of community-dwelling adults conducted in 11 countries...
June 19, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28622538/current-psychiatric-disorders-in-patients-with-epilepsy-are-predicted-by-maltreatment-experiences-during-childhood
#4
Kirsten Labudda, Dominik Illies, Cornelia Herzig, Katharina Schröder, Christian G Bien, Frank Neuner
PURPOSE: Childhood maltreatment has been shown to be a risk factor for the development of psychiatric disorders. Although the prevalence of psychiatric disorders is high in epilepsy patients, it is unknown if childhood maltreatment experiences are elevated compared to the normal population and if early maltreatment is a risk factor for current psychiatric comorbidities in epilepsy patients. This is the main purpose of this study. METHODS: Structured interviews were used to assess current Axis I diagnoses in 120 epilepsy patients from a tertiary Epilepsy Center (34 TLE patients, 86 non-TLE patients)...
June 8, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28620497/painful-ovulation-in-a-46-xx-sry-ve-adult-male-with-sox9-duplication
#5
Nandini Shankara Narayana, Anne-Maree Kean, Lisa Ewans, Thomas Ohnesorg, Katie L Ayers, Geoff Watson, Arthur Vasilaras, Andrew H Sinclair, Stephen M Twigg, David J Handelsman
46,XX disorders of sexual development (DSDs) occur rarely and result from disruptions of the genetic pathways underlying gonadal development and differentiation. We present a case of a young phenotypic male with 46,XX SRY-negative ovotesticular DSD resulting from a duplication upstream of SOX9 presenting with a painful testicular mass resulting from ovulation into an ovotestis. We present a literature review of ovulation in phenotypic men and discuss the role of SRY and SOX9 in testicular development, including the role of SOX9 upstream enhancer region duplication in female-to-male sex reversal...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28617986/a-novel-hsd17b3-gene-mutation-in-a-46-xy-female-phenotype-newborn-identified-by-whole-exome-sequencing
#6
Rita Bertalan, Osnat Admoni, Anu Bashamboo, Yardena Tenenbaum-Rakover, Kenneth McElreavey
Deficiency of 17β-hydroxysteroid dehydrogenase 3 (17β-HSD3) enzyme encoded by HSD17B3 is a rare cause of disorders of sexual development (DSD). Mutations in this gene in 46,XY individuals present at birth with external female phenotype or ambiguous genitalia. The diagnosis of 46,XY DSD is very challenging and not rarely is confirmed only at older ages. This article is protected by copyright. All rights reserved.
June 15, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28613046/anti-mullerian-hormone-amh-determinations-in-the-pediatric-and-adolescent-endocrine-practice
#7
Amir Weintraub, Talia Eldar-Geva
Anti-Mullerian hormone (AMH), secreted by immature testicular Sertoli-cells, triggers the regression of male fetal Mullerian ducts. During puberty, AMH is downregulated by intratesticular testosterone. In females, AMH is secreted from granulosa cells of immature ovarian follicles from late prenatal life until menopause; serum concentration is 5-20 times lower in females than in males through lifetime. In boys, AMH determination is useful in the clinical setting as a marker of Sertoli cell function. Serum AMH is low in infants with hypogonadotrophic hypogonadism (and increases with FSH treatment), in patients with primary hypogonadism from early postnatal life and in Klinefelter syndrome from midpuberty...
June 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28609277/corino-de-andrade-disease-mechanisms-and-impact-on-reproduction
#8
REVIEW
Rita A Lopes, Teresa Coelho, Alberto Barros, Mário Sousa
Familial amyloid polyneuropathy was first described by Corino de Andrade in 1952 in Northern Portugal. It is a fatal autosomal dominant neurodegenerative disorder characterized by a progression of neurologic symptoms, beginning early in the reproductive life. The Transthyretin gene mutation originates a mutated protein that precipitates in the connective tissue as amyloid deposits. This disease is presently named Transthyretin-related hereditary amyloidosis. We performed an extensive review on this disease based on searches in Medical databases and in paper references...
June 1, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/28608020/feminine-discrepancy-stress-and-psychosocial-maladjustment-among-adolescent-girls
#9
Dennis E Reidy, Poco D Kernsmith, Carolyn A Malone, Alana M Vivolo-Kantor, Joanne P Smith-Darden
Discrepancy stress, stress about being perceived to not conform to one's gender role (i.e., gender role discrepancy), has demonstrated effects on risky sexual and violent behaviors. However, evidence of these effects has been limited to men and boys, neglecting the impact gender role discrepancy and discrepancy stress may have on girls. In addition, no study to date, has assessed the mental health correlates of gender role discrepancy and discrepancy stress. In the current study, we sought to elucidate the relationship between perceived feminine discrepancy and feminine discrepancy stress and psychosocial maladjustment while controlling for trauma symptoms stemming from the potential repercussions of feminine discrepancy...
June 12, 2017: Child Psychiatry and Human Development
https://www.readbyqxmd.com/read/28602666/a-cognitive-behavioral-therapy-group-intervention-for-hypersexual-disorder-a-feasibility-study
#10
Jonas Hallberg, Viktor Kaldo, Stefan Arver, Cecilia Dhejne, Katarina Görts Öberg
BACKGROUND: The proposed criteria of the Diagnostic and Statistical Manual for Mental Disorders, Fifth Edition for hypersexual disorder (HD) included symptoms reported by patients seeking help for excessive and out-of-control non-paraphilic sexual behavior, including sexual behaviors in response to dysphoric mood states, impulsivity, and risk taking. Although no prior studies of cognitive-behavioral therapy (CBT) for the treatment of HD have been performed, CBT has been found effective for dysphoric mood states and impulsivity...
June 8, 2017: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/28597829/urogenital-infection-as-a-risk-factor-for-male-infertility
#11
Hans-Christian Schuppe, Adrian Pilatz, Hamid Hossain, Thorsten Diemer, Florian Wagenlehner, Wolfgang Weidner
BACKGROUND: Infections of the genital tract are considered common causes of male fertility disorders, with a prevalence of 6-10%. Most of the affected men are asymptomatic. The diagnostic evaluation is based mainly on laboratory testing. Inconsistent diagnostic criteria have been applied to date, and this may explain the controversial debate about the role of infection and inflammation in the genital tract as a cause of infertility. The risk of an irreversible fertility disorder should not be underestimated...
May 12, 2017: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/28596205/congenital-prepubic-sinus-an-epispadiac-variant-of-dorsal-urethral-duplication-with-dorsal-penile-curvature-in-an-adult-man-a-rare-association
#12
Ruchir Aeron, Sunny Goel, Manmeet Singh, Ashok Kumar Gupta
Urethral duplication is among a very rare congenital disorder with multiple anatomical variants reported. Urethral duplication of complete type is usually diagnosed during childhood with urinary incontinence or double urinary stream as common presentation. However, patients with incomplete urethral duplication usually present with intermittent mucous discharge from the accessory urethral opening. A 20-year-old man presented to us with intermittent mucous discharge from the accessory opening along with dorsal penile curvature making sexual intercourse very difficult...
June 8, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28596070/sm%C3%A2-sm-the-interface-of-systems-medicine-and-sexual-medicine-for-facing-non-communicable-diseases-in-a-gender-dependent-manner
#13
REVIEW
Emmanuele A Jannini
INTRODUCTION: Complex non-communicable diseases (NCDs), including cancer, cardiovascular disease, obesity, diabetes, and chronic respiratory disorders, are major causes of morbidity and mortality globally. The complexity of NCDs requires innovative, integrated, and interdisciplinary approaches for diagnosis, treatment, and prevention by adopting the new paradigm called systems medicine. A growing body of evidence suggests that sexual dysfunction in general and erectile and lubrication dysfunctions in particular are, in a sex-dependent manner, efficient predictors of overall systemic well-being...
June 5, 2017: Sexual Medicine Reviews
https://www.readbyqxmd.com/read/28592912/prospective-and-descriptive-study-on-serum-androstenedione-concentration-in-healthy-children-from-birth-until-18-years-of-age-and-its-associated-factors
#14
María Gabriela Ballerini, Virginia Gaido, María Eugenia Rodríguez, Ana Chiesa, María Gabriela Ropelato
INTRODUCTION: Androstenedione (A4) is an adrenal and gonadal steroid biomarker, useful in the assessment of children in whom steroidogenic disorders are suspected. The first key step in the evaluation of a diagnostic test resides on confident reference intervals (RI). The lack of updated A4-RI with current methods in pediatrics may mislead A4 results and limit its diagnosis accuracy. AIM: To provide A4 reference ranges in healthy children. METHODS: Prospective, descriptive study...
2017: Disease Markers
https://www.readbyqxmd.com/read/28590829/aging-and-sexual-health-getting-to-the-problem
#15
Ecem Kaya, Suresh C Sikka, Philip J Kadowitz, Serap Gur
Erectile dysfunction (ED) is one of the most common disorders in male and is often associated with other age-related comorbidities. The aging process affects the structural organization and function of penile erectile components such as smooth muscle cell and vascular architecture. These modifications affect penile hemodynamics by impairing cavernosal smooth muscle cell relaxation, reducing penile elasticity, compliance and promoting fibrosis. This review aims to identify the mechanisms of ED in the penile aging process in experimental and clinical data...
June 2017: Aging Male: the Official Journal of the International Society for the Study of the Aging Male
https://www.readbyqxmd.com/read/28589545/tonic-immobility-during-sexual-assault-a-common-reaction-predicting-posttraumatic-stress-disorder-and-severe-depression
#16
Anna Möller, Hans Peter Söndergaard, Lotti Helström
Active resistance is considered to be the "normal" reaction during rape. However, studies have indicated that similar to animals, humans exposed to extreme threat may react with a state of involuntary, temporary motor inhibition known as tonic immobility. The aim of the present study was to assess the occurrence of tonic immobility during rape and subsequent posttraumatic stress disorder and severe depression MATERIAL AND METHODS: Tonic immobility at the time of the assault was assessed using the Tonic Immobility Scale in 298 women who had visited the Emergency clinic for raped women within 1 month of a sexual assault...
June 7, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28585846/-czech-linguistic-validation-of-the-pelvic-organ-prolapse-urinary-incontinence-sexual-questionnaire-iuga-revised
#17
Z Rušavý, P Nečesalová, E Rinnová, M Smažinka, M Havíř, V Kališ
OBJECTIVE: To produce a Czech version of a validated tool for sexual quality of life assessment among women with pelvic floor disorders; PISQ-IR (Pelvic organ prolapse/Incontinence Sexual Questionnaire - Internationally Revised). DESIGN: Original study. SETTING: Department of Obstetrics and Gynecology, University Hospital and Faculty of Medicine, Charles University in Pilsen. METHODS: The whole process of translation and linguistic validation of the questionnaire followed the protocol of the International Urogynecology Association developed for this purpose...
2017: Ceská Gynekologie
https://www.readbyqxmd.com/read/28581530/mental-and-behavioural-disorders-in-the-icd-11-concepts-methodologies-and-current-status
#18
REVIEW
Wolfgang Gaebel, Jürgen Zielasek, Geoffrey M Reed
This review provides an overview of the concepts, methods and current status of the development of the Eleventh Revision of the Mental and Behavioural Disorders chapter of the International Classification of Diseases and Related Health Problems (ICD-11) by the World Health Organization (WHO). Given the global use of the current version (ICD-10) for a wide range of applications in clinical practice and health statistics, a major aim of the development process for ICD-11 has been to increase the utility of the classification system...
April 30, 2017: Psychiatria Polska
https://www.readbyqxmd.com/read/28580451/a-case-with-late-onset-of-ambiguous-genitalia
#19
Soraya Saleh Gargari, Faezeh Azizi, Nasrin Saleh, Mir Davood Omrani
BACKGROUND: Ambiguous genitalia is an uncommon situation that happens between 1 and 2 per every 1000 live births and falls under the umbrella diagnosis of disorders of sexual development. CASE: In this article, we report a case of male pseudohermaphroditism with ambiguous genitalia. The proband was a 12 yr old girl without any uterus or ovarian tissues. Karyotype of the case is 46, XY. Genes involved in sexual differentiation such as AR, SRD5A2, LH, LHR, FSH, 17 B HSD and SRY genes were sequenced in both directions...
March 2017: International Journal of Reproductive Biomedicine (Yazd, Iran)
https://www.readbyqxmd.com/read/28562323/pdgfra-hsd17b4-and-hmgb2-are-potential-therapeutic-targets-in-polycystic-ovarian-syndrome-and-breast-cancer
#20
Huiyu Xu, Yong Han, Jiaying Lou, Hongxian Zhang, Yue Zhao, Balázs Győrffy, Rong Li
To explore the key genes associated with both PCOS and breast cancer, we overlapped the synchronously differently expressed genes in two obese insulin-resistant GEO datasets in muscle tissue and genes exert essential roles in breast cancer prognosis together base on the following reasons: (1) Androgens excess is believed to contribute to the onset of both PCOS and breast cancer. (2) PCOS is usually complicated with metabolic symptoms, such as obesity and insulin-resistance. (3) Muscle is the main place where energy metabolism and material metabolism take place...
May 13, 2017: Oncotarget
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