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disorders of sex development

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https://www.readbyqxmd.com/read/28944319/the-ethics-of-fertility-preservation-for-pediatric-patients-with-differences-disorders-of-sex-development
#1
Lisa Campo-Engelstein, Diane Chen, Arlene B Baratz, Emilie K Johnson, Courtney Finlayson
Differences (disorders) of sex development are diverse conditions with variations in chromosomal, gonadal, and/or genital development. Fertility potential in this population is variable. Recent investigations into fertility potential in those previously thought to be infertile suggest that the majority may have fertility potential through experimental protocols. Fertility preservation may be more successful if pursued in childhood. As fertility research and techniques advance, it is important to carefully consider pediatric ethical issues specific to this population, including gonadectomy, consent/assent, experimental treatment and false hope, cost and insurance coverage, genetic transmission to offspring, and gender dysphoria...
June 1, 2017: J Endocr Soc
https://www.readbyqxmd.com/read/28943198/incidence-of-dementia-in-elderly-latin-americans-results-of-the-maracaibo-aging-study
#2
Gladys E Maestre, Luis J Mena, Jesus D Melgarejo, Daniel C Aguirre-Acevedo, Gloria Pino-Ramírez, Milady Urribarrí, Inara J Chacon, Carlos A Chávez, Luis Falque-Madrid, Ciro A Gaona, Joseph D Terwilliger, Joseph H Lee, Nikolaos Scarmeas
INTRODUCTION: There are few longitudinal studies of dementia in developing countries. We used longitudinal data from the Maracaibo Aging Study to accurately determine the age- and sex-specific incidence of dementia in elderly Latin Americans. METHODS: The Diagnostic and Statistical Manual of Mental Disorders (Fourth Edition, Text Revision) was used to diagnose dementia, which was classified as Alzheimer's disease, vascular dementia, or other. Age- and sex-specific incidence was estimated as the number of new cases of dementia divided by person-years (p-y) of follow-up...
September 21, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/28942596/the-multidimensional-therapeutic-potential-of-targeting-the-brain-oxytocin-system-for-the-treatment-of-substance-use-disorders
#3
Michael T Bowen, Inga D Neumann
The neuropeptide oxytocin is released both into the blood and within the brain in response to reproductive stimuli, such as birth, suckling and sex, but also in response to social interaction and stressors. Substance use disorders, or addictions, are chronic, relapsing brain disorders and are one of the major causes of global burden of disease. Unfortunately, current treatment options for substance use disorders are extremely limited and a treatment breakthrough is sorely needed. There is mounting preclinical evidence that targeting the brain oxytocin system may provide that breakthrough...
September 24, 2017: Current Topics in Behavioral Neurosciences
https://www.readbyqxmd.com/read/28941767/a-proton-mr-spectroscopy-study-of-the-thalamus-in-twins-with-autism-spectrum-disorder
#4
John P Hegarty, Meng Gu, Daniel M Spielman, Sue C Cleveland, Joachim F Hallmayer, Laura C Lazzeroni, Mira M Raman, Thomas W Frazier, Jennifer M Phillips, Allan L Reiss, Antonio Y Hardan
Multiple lines of research have reported thalamic abnormalities in individuals with autism spectrum disorder (ASD) that are associated with social communication impairments (SCI), restricted and repetitive behaviors (RRB), or sensory processing abnormalities (SPA). Thus, the thalamus may represent a common neurobiological structure that is shared across symptom domains in ASD. Same-sex monozygotic (MZ) and dizygotic (DZ) twin pairs with and without ASD underwent cognitive/behavioral evaluation and magnetic resonance imaging to assess the thalamus...
September 20, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28939409/over-the-counter-mouthwash-use-and-risk-of-pre-diabetes-diabetes
#5
Kaumudi J Joshipura, Francisco J Muñoz-Torres, Evangelia Morou-Bermudez, Rakesh P Patel
AIMS: Over-the-counter mouthwash (most of which are antibacterial) comprises part of routine oral care for many; however, potential adverse effects of the long-term daily use have not been evaluated. Antibacterial mouthwash could destroy oral microbes critical for nitric oxide formation, and in turn predispose to metabolic disorders including diabetes. Our aim was to evaluate longitudinally the association between baseline over-the-counter mouthwash use and development of pre-diabetes/diabetes over a 3-year follow-up...
September 19, 2017: Nitric Oxide: Biology and Chemistry
https://www.readbyqxmd.com/read/28939132/peak-hyperammonemia-and-atypical-acute-liver-failure-the-eruption-of-an-urea-cycle-disorder-during-hyperemesis-gravidarum
#6
REVIEW
Nicolas Weiss, Fanny Mochel, Marika Rudler, Sophie Demeret, Pascal Lebray, Filomena Conti, Damien Galanaud, Chris Ottolenghi, Jean-Paul Bonnefont, Marc Dommergues, Jacques Bernuau, Dominique Thabut
BACKGROUND: Inborn urea cycle deficiencies are under-recognized metabolic causes of hyperammonaemia in adults. METHODS: A 28-year-old primigravida, 7-week pregnant woman affected by hyperemesis gravidarum developed acute liver injury and then acute liver failure (ALF) in less than 48 hours. RESULTS: Because the patient developed atypical features, especially mildly elevated serum transaminases contrasting with very high blood ammonia levels (281 μmol/l), concomitant with normal serum creatinine, an inborn error of metabolism was suspected...
September 19, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28938747/prevalence-of-endocrine-and-genetic-abnormalities-in-boys-evaluated-systematically-for-a-disorder-of-sex-development
#7
R Nixon, V Cerqueira, A Kyriakou, A Lucas-Herald, J McNeilly, M McMillan, A I Purvis, E S Tobias, R McGowan, S F Ahmed
STUDY QUESTION: What is the likelihood of identifying genetic or endocrine abnormalities in a group of boys with 46, XY who present to a specialist clinic with a suspected disorder of sex development (DSD)? SUMMARY ANSWER: An endocrine abnormality of the gonadal axis may be present in a quarter of cases and copy number variants (CNVs) or single gene variants may be present in about half of the cases. WHAT IS KNOWN ALREADY: Evaluation of 46, XY DSD requires a combination of endocrine and genetic tests but the prevalence of these abnormalities in a sufficiently large group of boys presenting to one specialist multidisciplinary service is unclear...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28938676/risk-factors-for-mortality-from-pneumocystis-carinii-pneumonia-pcp-in-non-hiv-patients-a-meta-analysis
#8
Yao Liu, Lili Su, Shu-Juan Jiang, Hui Qu
The number of patients with non-human immunodeficiency virus (HIV) related pneumocystis carinii pneumonia (PCP) is increasing with widespread immunosuppressive treatment. We performed a meta-analysis to describe the clinical characteristics and factors associated with outcomes of PCP in HIV-negative patients. A total of 13 studies including 867 patients with non-HIV related PCP was included. The overall mortality for non-HIV patients with PCP was 30.6%. The most common underlying disorder for the development of PCP is hematological malignancies (29...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938475/modeling-the-sex-differences-and-inter-individual-variability-in-the-activity-of-the-hypothalamic-pituitary-adrenal-axis
#9
Rohit T Rao, Ioannis P Androulakis
Significant sex differences exist in the activity of the hypothalamic-pituitary-adrenal (HPA) axis. These differences are thought to contribute to the disparity in the prevalence of various autoimmune and infectious diseases between males and females. We use a mathematical model of the HPA axis to evaluate the hypothesis that differential sensitivity and negative feedback of the HPA axis network are causal factors for the observed sex differences in its activity. In doing so, we implicitly account for the differential influence of gonadal hormones on the HPA axis...
August 31, 2017: Endocrinology
https://www.readbyqxmd.com/read/28938419/nocturnal-urinary-excretion-of-fsh-and-lh-in-children-and-adolescents-with-normal-and-early-puberty
#10
Nanna Kolby, Alexander S Busch, Lise Aksglaede, Kaspar Sørensen, Jorgen Holm Petersen, Anna-Maria Andersson, Anders Juul
Context: Clinical use of single serum gonadotropin measurements in children is limited by the pulsatile section of FSH and LH. However, first morning voided (FMV) urine may integrate the fluctuating gonadotropin serum levels. Objective: We aimed to evaluate urinary and serum gonadotropin levels according to age, sex and pubertal stage in healthy children and to assess the clinical use of FMV urinary gonadotropins in children with disordered puberty. Design: Cross-sectional part of the COPENHAGEN Puberty study and longitudinal study of patients...
August 15, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28931575/case-report-of-clitoral-hypertrophy-in-2-extremely-premature-girls-with-an-ovarian-cyst
#11
Anne-Laure Nerré, Pierre Bétrémieux, Sylvie Nivot-Adamiak
Neonatal clitoromegaly is mainly attributed to in utero androgen exposure secondary to congenital adrenal hyperplasia. We report on 2 extremely premature girls with clitoromegaly, increased androgen levels, no salt wasting syndrome, and ovarian cyst. In case 1, the cyst liquid was aspired during ovarian hernia surgery and revealed high androgen levels. After aspiration, serum androgen levels decreased, as did clitoral size. In case 2, an ovarian cyst was seen on pelvic ultrasound. Aspiration was not indicated...
September 20, 2017: Pediatrics
https://www.readbyqxmd.com/read/28926727/early-pregnancy-intrauterine-fetal-exposure-to-maternal-smoking-and-impact-on-fetal-telomere-length
#12
Hooman Mirzakhani, Immaculata De Vivo, J Steven Leeder, Roger Gaedigk, Carrie A Vyhlidal, Scott T Weiss, Kelan Tantisira
BACKGROUND: Reduced telomere length, or its accelerated attrition, has been implicated in aging, mortality, and several human diseases, including respiratory diseases. Age dependent manifestation of telomere-mediated disease during life span indicates the role of developmental stage in these diseases and highlights the importance of fetal developmental process in utero and at earlier life stages. Environmental determinants during developmental and later stages of life could affect telomere length...
September 14, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28925591/melinjo-gnetum-gnemon-seed-extract-consumption-during-lactation-improved-vasodilation-and-attenuated-the-development-of-hypertension-in-female-offspring-of-fructose-fed-pregnant-rats
#13
Rachael A Uson-Lopez, Saori Kataoka, Yuuka Mukai, Shin Sato, Masaaki Kurasaki
BACKGROUND: Fructose intake has been correlated with increased prevalence of metabolic disorders including hypertension. In pregnant rats, fructose intake has been reported to have adverse effects on the health of its offspring. This study investigated the effects of gestational maternal fructose consumption and if supplementation with melinjo seed extracts to the maternal diet during lactation could benefit the offspring in later life. METHODS: Pregnant rats were randomly divided into three groups: untreated (CC), fructose-treated (FC), and fructose and melinjo-treated (FM)...
September 19, 2017: Birth defects research
https://www.readbyqxmd.com/read/28925389/ptsd-blood-transcriptome-mega-analysis-shared-inflammatory-pathways-across-biological-sex-and-modes-of-trauma
#14
Michael S Breen, Daniel S Tylee, Adam X Maihofer, Thomas C Neylan, Divya Mehta, Elisabeth Binder, Sharon D Chandler, Jonathan L Hess, William S Kremen, Victoria B Risbrough, Christopher H Woelk, Dewleen G Baker, Caroline M Nievergelt, Ming T Tsuang, Joseph D Buxbaum, Stephen J Glatt
Transcriptome-wide screens of peripheral blood during the onset and development of posttraumatic stress disorder (PTSD) indicate widespread immune dysregulation. However, little is known as to whether biological sex and the type of traumatic event influence shared or distinct biological pathways in PTSD. We performed a combined analysis of five independent PTSD blood transcriptome studies covering seven types of trauma in 229 PTSD and 311 comparison individuals to synthesize the extant data. Analyses by trauma type revealed a clear pattern of PTSD gene expression signatures distinguishing interpersonal (IP)-related traumas from combat-related traumas...
September 19, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28924013/reward-related-ventral-striatum-activity-buffers-against-the-experience-of-depressive-symptoms-associated-with-sleep-disturbances
#15
Reut Avinun, Adam Nevo, Annchen R Knodt, Maxwell L Elliott, Spenser R Radtke, Bartholomew D Brigidi, Ahmad R Hariri
Sleep disturbances represent one risk factor for depression. Reward-related brain function, particularly the activity of the ventral striatum (VS), has been identified as a potential buffer against stress-related depression. We were therefore interested in testing whether reward-related VS activity would moderate the effect of sleep disturbances on depression in a large cohort of young adults. Data were available from 1129 university students (mean age 19.71 ± 1.25 years; 637 women) who completed a reward-related functional MRI task to assay VS activity and provided self-reports of sleep using the Pittsburgh Sleep Quality Index and symptoms of depression using a summation of the General Distress/Depression (GDD) and Anhedonic Depression (AD) subscales of the Mood and Anxiety Symptoms Questionnaire-short form...
September 18, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28923310/factors-associated-with-specific-diagnostic-and-statistical-manual-of-mental-disorders-fourth-edition-sexual-dysfunctions-in-breast-cancer-survivors-a-study-of-patients-and-their-partners
#16
Susanna B Hummel, Daniela E E Hahn, Jacques J D M van Lankveld, Hester S A Oldenburg, Eva Broomans, Neil K Aaronson
BACKGROUND: Many women develop sexual problems after breast cancer (BC) treatment. Little is known about BC survivors with a Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) sexual dysfunction and their partners, and the factors associated with their sexual functioning. AIM: To evaluate (i) patient-related and clinical factors associated with (a) specific DSM-IV sexual dysfunctions and (b) level of sexual functioning and sexual distress as reported by BC survivors and (ii) the association between the sexual functioning of BC survivors and that of their partners...
September 8, 2017: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/28923284/fertility-outcome-and-information-on-fertility-issues-in-individuals-with-different-forms-of-disorders-of-sex-development-findings-from-the-dsd-life-study
#17
Jolanta Słowikowska-Hilczer, Angelica Lindén Hirschberg, Hedi Claahsen-van der Grinten, Nicole Reisch, Claire Bouvattier, Ute Thyen, Peggy Cohen Kettenis, Robert Roehle, Birgit Köhler, Anna Nordenström
OBJECTIVE: To investigate fertility outcome in individuals with different forms of disorders of sex development (DSD), if assisted reproductive technology (ART) was used, and the patients' satisfaction with the information they had received. DESIGN: A cross-sectional multicenter study, dsd-LIFE. SETTING: Not applicable. PATIENT(S): A total of 1,040 patients aged ≥16 years with different DSD diagnoses participated...
September 15, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28923274/mapping-orbitofrontal-limbic-maturation-in-non-human-primates-a-longitudinal-magnetic-resonance-imaging-study
#18
Akiko Uematsu, Junichi Hata, Yuji Komaki, Fumiko Seki, Chihoko Yamada, Norio Okahara, Yoko Kurotaki, Erika Sasaki, Hideyuki Okano
Brain development involves spatiotemporally complex microstructural changes. A number of neuropsychiatric disorders are linked to the neural processes of development and aging. Thus, it is important to understanding the typical developmental patterns of various brain structures, which will help to define critical periods of vulnerability for neural maturation, as well as anatomical mechanisms of brain structure-related neuropathology. In this study, we used magnetic resonance imaging to assess development of the orbitofrontal cortex, cingulate cortex, amygdala, and hippocampus in a non-human primate species, the common marmoset (Callithrix jacchus)...
September 18, 2017: NeuroImage
https://www.readbyqxmd.com/read/28922735/assessing-the-interplay-of-childhood-adversities-with-more-recent-stressful-life-events-and-conditions-in-predicting-panic-pathology-among-adults-from-the-general-population
#19
E Asselmann, J Stender, H J Grabe, J König, C O Schmidt, A O Hamm, C A Pané-Farré
BACKGROUND: Although research suggests that (a) childhood adversities and more recent stressful life events/conditions are risk factors for panic pathology and that (b) early life stress increases vulnerability to later psychopathology, it remains unclear whether childhood adversities amplify the association between more recent stressful life events/conditions and panic pathology. METHODS: Data were derived from a general population sample (Study of Health in Pomerania, SHIP)...
August 24, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28920018/neonatal-sex-assignment-in-disorders-of-sex-development-a-philosophical-introspection
#20
REVIEW
V Raveenthiran
Management of ambiguous genitalia is highly controversial. This condition was known previously as intersex and presently as disorders of sex development (DSD). There is no consensus regarding the choice, timing and method of sex assignment in neonates with DSD. Consensus conferences could not unify the views of various stakeholders and third parties. This article philosophically examines the nature and origin of such controversies. Misconception, bias and conflicting priorities are identified as the three cardinal sources of controversies...
July 2017: Journal of Neonatal Surgery
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