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https://www.readbyqxmd.com/read/29155986/prenatal-high-estradiol-exposure-induces-sex-specific-and-dietarily-reversible-insulin-resistance-through-decreased-hypothalamic-insr
#1
Hui-Hui Wang, Cheng-Liang Zhou, Min Lv, Qian Yang, Ju-Xue Li, Min Hou, Jing Lin, Xin-Mei Liu, Yan-Ting Wu, Jian-Zhong Sheng, He-Feng Huang
Adverse intrauterine environment may induce adult disease in offspring, but the mechanisms are not well understood. It is reported that fresh embryo transfer (ET) in assisted reproductive technology presents extra-high maternal estradiol (E2) and prenatal high E2 exposure increases the risk of organ disorders in later life. We found male newborns and children of fresh ET showed increased fasting insulin and the homeostasis model of assessment for insulin resistance index (HOMA-IR). Prenatal high E2 exposed (HE) male mice grew heavier than control and developed insulin resistance, they also showed increased food intake with enhanced orexigenic hypothalamic neuropeptide Y (NPY) expression...
November 15, 2017: Endocrinology
https://www.readbyqxmd.com/read/29154571/taxometric-analyses-of-pedophilia-utilizing-self-report-behavioral-and-sexual-arousal-indicators
#2
Skye Stephens, Elisabeth Leroux, Tracey Skilling, James M Cantor, Michael C Seto
Pedophilia refers to the recurrent, intense sexual interest in prepubescent children who, by definition, have not developed any secondary sex characteristics. Researchers have begun to investigate whether persons with pedophilia are qualitatively different from those without pedophilia (pedophilia is a taxon) or if people vary in their level of sexual interest toward children (pedophilia is dimensional). Two relatively small studies have previously attempted to address this question, but produced conflicting results...
November 2017: Journal of Abnormal Psychology
https://www.readbyqxmd.com/read/29152903/reproductive-endocrine-phenotypes-relating-to-chd7-mutations-in-humans
#3
REVIEW
Ravikumar Balasubramanian, William F Crowley
Mutations in the gene CHD7 cause CHARGE syndrome, a rare multi-organ syndromic disorder. Gonadal defects are common in individuals with CHARGE syndrome (seen in ∼60-80% of cases) and represent the letter "G" in the CHARGE syndrome acronym. The gonadal defect in CHARGE syndrome results from congenital deficiency of the hypothalamic hormone Gonadotropin-releasing hormone (GnRH), which manifests clinically as pubertal failure and infertility, and biochemically as hypogonadotropic hypogonadism (low sex steroid hormone levels with inappropriately normal or low gonadotropin levels)...
November 20, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29152164/mutations-in-rab39b-in-individuals-with-intellectual-disability-autism-spectrum-disorder-and-macrocephaly
#4
Marc Woodbury-Smith, Eric Deneault, Ryan K C Yuen, Susan Walker, Mehdi Zarrei, Giovanna Pellecchia, Jennifer L Howe, Ny Hoang, Mohammed Uddin, Christian R Marshall, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W Scherer
Background: Autism spectrum disorder (ASD), a developmental disorder of early childhood onset, affects males four times more frequently than females, suggesting a role for the sex chromosomes. In this study, we describe a family with ASD in which a predicted pathogenic nonsense mutation in the X-chromosome gene RAB39B segregates with ASD phenotype. Methods: Clinical phenotyping, microarray, and whole genome sequencing (WGS) were performed on the five members of this family...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29151255/weight-disorders-in-short-children
#5
Paweł Tomaszewski, Anna Majcher, Katarzyna Milde, Romuald Stupnicki
This study aimed to determine the degree of adiposity and prevalence of weight disorders in short children and to assess relationships between selected birth parameters and actual body fat content and body mass indicators. The study encompassed 85 girls and 97 boys, aged 7-14 years, with height below the 10th centile of the age and sex standard. In addition, 609 normal-height children (height between 25th and 75th centile) served as a comparison group. The children underwent measurements of body mass and height, skinfold thickness, and waist circumference...
November 19, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29151085/a-novel-mutation-in-the-critical-p-box-residue-of-steroidogenic-factor-1-presenting-with-xy-sex-reversal-and-transient-adrenal-failure
#6
Anna S Orekhova, Natalia Kalinchenko, Ivan A Morozov, Evgeny V Vasilyev, Petr M Rubtsov, Ivan I Dedov, Anatoly Tiulpakov
BACKGROUND: Although the importance of steroidogenic factor-1 (SF1, NR5A1) for adrenal development is supported by numerous in vitro and in vivo studies, cases of SF1 deficiency associated with adrenal failure are exceptionally rare. The first human NR5A1 mutation was a heterozygous de novo p.G35E variant identified in a patient with disorder of sex development (DSD) 46,XY and primary adrenal insufficiency. Here we describe another association of the "classic" SF1 phenotype with a novel NR5A1 mutation affecting G35 residue...
November 17, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29149458/hormone-therapy-and-patients-satisfaction-with-treatment-in-a-large-cohort-of-diverse-disorders-of-sex-development-dsd
#7
Anna Nordenström, Robert Röhle, Ute Thyen, Claire Bouvattier, Jolanta Slowikowska-Hilczer, Nicole Reisch, Hedi Claahsen van der Grinten, Aude Brac de la Perriere, Peggy T Cohen-Kettenis, Birgit Köhler
OBJECTIVES: To describe and investigate the hormone treatments in individuals with different forms of disorders of sex development (DSD), and the patients own views on their treatment. DESIGN: Multicentre cross-sectional clinical evaluation, dsd-LIFE in six European countries from 02/2014 to 09/2015. PARTICIPANTS: 1040 adolescents and adults (≥16 years) with different DSD conditions. MAIN OUTCOMES MEASURES: Hormone replacement, information received and patient satisfaction...
November 17, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/29147956/endogenous-sex-hormones-and-memory-performance-in-middle-aged-greek-women-with-subjective-memory-complaints
#8
Eleni Armeni, Michail Apostolakis, Foteini Christidi, Demetrios Rizos, George Kaparos, Konstantinos Panoulis, Areti Augoulea, Andreas Alexandrou, Evangelia Karopoulou, Ioannis Zalonis, Nikolaos Triantafyllou, Irene Lambrinoudaki
The changing hormonal milieu during the menopausal transition may contribute to the development of memory disorders. We aimed to assess the association of sex hormones with memory function in a sample of Greek middle-aged women. This pilot study included 44 women with subjective memory complaints. Memory performance was evaluated using the Hopkins Verbal Learning Test (HVLT), the Brief Visuospatial Memory test (BVMT), and the verbal digits backwards test (VSPAN), to assess verbal, visuospatial, and working memory performance, respectively...
November 16, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29147953/impact-of-perfluorochemicals-on-human-health-and-reproduction-a-male-s-perspective
#9
REVIEW
C Foresta, S Tescari, A Di Nisio
Perfluoroalkyl compounds (PFCs) are a class of organic molecules used in industry and consumer products. PFCs are non-biodegradable and bioaccumulate in the environment and for these reasons they have been a major subject of research regarding their toxicity, environmental fate, and sources of human exposure, since they have been shown to induce severe health consequences, such as neonatal mortality, neurotoxicity and immunotoxicity. The aim of this review is to explore the existing knowledge of the interplay between PFCs exposure and human health, with a focus on male reproductive health, given the emerging gender differences in PFCs clearance and their interaction with sex hormones receptors...
November 17, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29145650/loss-of-p300-and-cbp-disrupts-histone-acetylation-at-the-mouse-sry-promoter-and-causes-xy-gonadal-sex-reversal
#10
Gwenn-Aël Carré, Pam Siggers, Marilena Xipolita, Paul Brindle, Beat Lutz, Sara Wells, Andy Greenfield
CREB-binding protein (CBP, CREBBP, KAT3A) and its closely related paralogue p300 (EP300, KAT3B), together termed p300/CBP, are histone/lysine acetyl-transferases that control gene expression by modifying chromatin-associated proteins. Here, we report roles for both of these chromatin-modifying enzymes in mouse sex determination, the process by which the embryonic gonad develops into a testis or an ovary. By targeting gene ablation to embryonic gonadal somatic cells using an inducible Cre line, we show that gonads lacking either gene exhibit major abnormalities of XY gonad development at 14...
November 14, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29145277/tricho-hepato-enteric-syndrome-with-novel-skiv2l-gene-mutations-a-case-report
#11
Eitaro Hiejima, Takahiro Yasumi, Hiroshi Nakase, Minoru Matsuura, Yusuke Honzawa, Hirokazu Higuchi, Ikuo Okafuji, Tohru Yorifuji, Takayuki Tanaka, Kazushi Izawa, Tomoki Kawai, Ryuta Nishikomori, Toshio Heike
RATIONALE: Tricho-hepato-enteric syndrome (THES) is a rare disorder caused by mutations in the TTC37 or SKIV2L genes and characterized by chronic diarrhea, liver disease, hair abnormalities, and high mortality in early childhood due to severe infection or liver cirrhosis. PATIENT CONCERNS: The patient is the second child of three siblings born to non-consanguineous healthy Japanese parents. She had intrauterine growth retardation and was delivered at 33 weeks of gestation due to placental abruption...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29145209/methodological-issues-for-psychological-evaluation-across-the-lifespan-of-individuals-with-a-difference-disorder-of-sex-development
#12
Franco D'Alberton, Sofia Vissani, Chiara Ferracuti, Vickie Pasterski
The aim of the current report is to provide guidance relevant to psychological evaluation for healthcare providers and researchers working in the field of disorders of sexual development (DSD). In doing so, we give careful consideration to methodological issues and limitations that may influence the utility of investigations. For example, rarity and heterogeneity of DSD conditions restrict sample sizes when conducting evaluations aimed at establishing condition-specific psychological outcomes. At the same time, the potential for stigmatization by virtue of conducting psychological evaluations is particularly high given the fundamental contribution of sex and gender to one's sense of self and integrity...
November 17, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29145200/the-role-of-copy-number-variants-in-disorders-of-sex-development
#13
Brittany Croft, Thomas Ohnesorg, Andrew H Sinclair
Despite considerable research effort and significant advances in sequencing technologies, the majority of disorders of sex development (DSD) cases still lack a molecular genetic diagnosis. While coding variants have been discovered in known and candidate DSD genes, comparatively little is known about copy number variations (CNVs) affecting both coding and noncoding regions. Due to rapidly falling costs of whole genome sequencing, many more CNVs in individuals with DSD will be identified. These CNVs may explain a significant number of hitherto undiagnosed cases of DSD...
November 17, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29145065/gestational-differences-in-murine-placenta-glycolytic-metabolism-and-pregnancy-parameters
#14
Renee E Albers, Christopher A Waker, Chanel Keoni, Melissa R Kaufman, Michael A Bottomley, Sarah Min, David R Natale, Thomas L Brown
The placenta is a complex and essential organ composed largely of fetal-derived cells, including several different trophoblast subtypes that work in unison to support nutrient transport to the fetus during pregnancy. Abnormal placental development can lead to pregnancy-associated disorders that often involve metabolic dysfunction. The scope of dysregulated metabolism during placental development may not be fully representative of the in vivo state in defined culture systems, such as cell lines or isolated primary cells...
November 4, 2017: Theriogenology
https://www.readbyqxmd.com/read/29143853/sex-specific-risk-assessment-of-pfhxs-using-a-physiologically-based-pharmacokinetic-model
#15
Sook-Jin Kim, Hwajin Shin, Yong-Bok Lee, Hea-Young Cho
Perfluorohexanesulfonate (PFHxS), which belongs to the group of perfluoroalkyl and polyfluoroalkyl substances (PFASs), has been extensively used in industry and subsequently detected in the environment. Its use may be problematic, as PFHxS is known to induce neuronal cell death, and has been associated with early onset menopause in women and with attention deficit/hyperactivity disorder. Due to these impending issues, the aim of this study is to develop and evaluate a physiologically based pharmacokinetic (PBPK) model for PFHxS in male and female rats, and apply this to a human health risk assessment...
November 16, 2017: Archives of Toxicology
https://www.readbyqxmd.com/read/29143418/identification-of-swallowing-disorders-in-early-and-mid-stage-parkinson-s-disease-using-pattern-recognition-of-pharyngeal-high-resolution-manometry-data
#16
C A Jones, M R Hoffman, L Lin, S Abdelhalim, J J Jiang, T M McCulloch
BACKGROUND: Parkinson's disease (PD) can cause severe dysphagia, especially later in disease progression. Early identification of swallowing dysfunction may lead to earlier intervention. Pharyngeal high-resolution manometry (HRM) provides complementary information to videofluoroscopy, with advantages of being quantitative and objective. Artificial neural network (ANN) classification can examine non-linear relationships among multiple variables with relatively low bias. We evaluated if ANN techniques could differentiate between patients with PD and healthy controls...
November 16, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/29143095/areca-nut-chewing-is-associated-with-common-mental-disorders-a-population-based-study
#17
Tzu-Yu Lin, Huan-Cheng Chang, Kuang-Hung Hsu
INTRODUCTION: Forms of habitual substance use including cigarette smoking and alcohol consumption have been documented as risk factors of common mental disorders (CMDs). The effects of areca nut chewing on biophysiological tests, metabolic syndromes, and liver function have been reported previously; however, the relationship between areca nut chewing and CMDs remains unclear. This study examined the association between areca nut chewing and CMDs and explored the relationships between areca nut chewing and biophysiological indicators...
November 15, 2017: Social Psychiatry and Psychiatric Epidemiology
https://www.readbyqxmd.com/read/29142058/juvenile-female-rats-but-not-male-rats-show-renewal-reinstatement-and-spontaneous-recovery-following-extinction-of-conditioned-fear
#18
Chun Hui J Park, Despina E Ganella, Jee Hyun Kim
Anxiety disorders emerge early, and girls are significantly more likely to develop anxiety compared to boys. However, sex differences in fear during development are poorly understood. Therefore, we investigated juvenile male and female rats in the relapse behaviors following extinction of conditioned fear. In all experiments, 18-d-old rats first received three white-noise-footshock pairings on day 1. On day 2, extinction involved 60 white-noise alone trials. In experiment 1, we examined renewal by testing the rats in either the same or different context as extinction on day 3...
December 2017: Learning & Memory
https://www.readbyqxmd.com/read/29141875/cognitive-enhancers-associated-with-decreased-risk-of-injury-in-patients-with-dementia-a-nationwide-cohort-study-in-taiwan
#19
Pei-Chun Chao, Wu-Chien Chien, Chi-Hsiang Chung, Ching-Wen Chu, Chin-Bin Yeh, San-Yuan Huang, Ru-Band Lu, Hsin-An Chang, Yu-Chen Kao, Hui-Wen Yeh, Wei-Shan Chiang, Yu-Ching Chou, Nian-Sheng Tzeng
This study aimed to investigate the associations among dementia, psychotropic medications and the risk of overall injuries. In this nationwide matched cohort study, a total of 144 008 enrolled patients ≥age of 50, with 36 002 study subjects who suffered from dementia and 108 006 controls matched for sex and age, from the Inpatient Dataset, for the period 2000-2010 in Taiwan were selected from the National Health Insurance Research Database, according to International Classification of Diseases, 9th Revision, Clinical Modification...
November 14, 2017: Journal of Investigative Medicine: the Official Publication of the American Federation for Clinical Research
https://www.readbyqxmd.com/read/29137973/exposure-to-polybrominated-diphenyl-ethers-pbdes-and-child-behavior-current-findings-and-future-directions
#20
REVIEW
Ann M Vuong, Kimberly Yolton, Kim N Dietrich, Joseph M Braun, Bruce P Lanphear, Aimin Chen
Polybrominated diphenyl ethers (PBDEs) are recognized neurotoxicants, but the extent to which PBDEs influence various domains of behavior in children is not fully understood. As such, we reviewed epidemiologic studies published to date to provide an overview of the current state of knowledge on PBDEs' potential role in behavioral development. We identified 19 epidemiologic studies reporting on associations of prenatal and childhood concentrations of PBDEs with behaviors assessed in children from 1 to 12years, including executive function, attention, externalizing and internalizing behaviors, adaptive skills, and social behaviors/Autism Spectrum Disorder (ASD)...
November 11, 2017: Hormones and Behavior
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