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Disorder of sex development

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https://www.readbyqxmd.com/read/29027807/annals-express-biochemistry-of-the-menopause
#1
John W Honour
The life of a human female is characterised from teenage years by monthly menstruation which ceases (the menopause) typically between the age of 40 and 60 years. The potential for reproduction declines and ceases as the ovaries become depleted of follicles. A transition period in mid-life, for 2 to 10 years, when menstruation is less regular is called the peri-menopause. The menopause is associated with a significant decline in plasma concentrations of sex hormones, an increase in the concentrations of the gonadotrophins and changes in other hormones such as the inhibins...
January 1, 2017: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/29027717/functional-characterization-of-five-nr5a1-gene-mutations-found-in-patients-with-46-xy-disorders-of-sex-development
#2
Helena Fabbri-Scallet, Maricilda Palandi de Mello, Gil Guerra-Júnior, Andréa Trevas Maciel-Guerra, Juliana Gabriel Ribeiro de Andrade, Camila Maia Costa de Queiroz, Isabella Lopes Monlleó, Dagmar Struve, Olaf Hiort, Ralf Werner
Steroidogenic factor-1 (SF1), encoded by the NR5A1 gene, is a key regulator of steroidogenesis and reproductive development. NR5A1 mutations described in 46,XY patients with disorder of sex development (DSD) can be associated with a range of conditions of phenotypes, however the genotype-phenotype correlation remains elusive in many cases. In the present study, we describe the impact of five NR5A1 variants (three novel: p.Arg39Cys, p.Ser32Asn and p.Lys396Argfs*34; and two previously described: p.Cys65Tyr and p...
October 13, 2017: Human Mutation
https://www.readbyqxmd.com/read/29027299/functional-characterisation-of-novel%C3%A2-nr5a1%C3%A2-variants-reveals-multiple-complex-roles-in-disorders-of-sex-development
#3
Gorjana Robevska, Jocelyn A van den Bergen, Thomas Ohnesorg, Stefanie Eggers, Chloe Hanna, Remko Hersmus, Elizabeth M Thompson, Anne Baxendale, Charles F Verge, Antony R Lafferty, Nanis S Marzuki, Ardy Santosa, Nurin A Listyasari, Stefan Riedl, Garry Warne, Leendert Looijenga, Sultana Faradz, Katie L Ayers, Andrew H Sinclair
Variants in the NR5A1 gene encoding SF1 have been described in a diverse spectrum of Disorder of Sex Development (DSD). Recently, we reported the use of a targeted gene panel for DSD where we identified 15 individuals with a variant in NR5A1, nine of which are novel. Here we examine the functional effect of these changes in relation to the patient phenotype. All novel variants tested had reduced trans-activational activity, while several had altered protein level, localization or conformation. In addition, we found evidence of new roles for SF1 protein domains including a region within the ligand binding domain that appears to contribute to SF1 regulation of Müllerian development...
October 13, 2017: Human Mutation
https://www.readbyqxmd.com/read/29025100/an-examination-of-pain-s-relationship-to-sleep-fragmentation-and-disordered-breathing-across-common-sleep-disorders
#4
Jennifer M Mundt, Stephan Eisenschenk, Michael E Robinson
Objective: Short sleep duration and insomnia have been linked to higher pain and an increased risk of developing chronic pain, but relatively little research has examined the contribution of sleep disordered breathing (SDB) to pain. This study examined the unique contributions of SDB and insomnia to chronic pain. Subjects: Adult patients referred to an academic sleep center for overnight polysomnography were invited to participate. Methods: Participants (N = 105) completed questionnaires about their sleep and pain, including the Insomnia Severity Index, Medical College of Virginia Pain Questionnaire, and two weeks of sleep/pain diaries...
August 28, 2017: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/29024720/disruptions-to-the-cerebellar-gabaergic-system-in-juvenile-guinea-pigs-following-preterm-birth
#5
Julia C Shaw, Hannah K Palliser, Rebecca M Dyson, Mary J Berry, Jonathan J Hirst
BACKGROUND: Children that are born preterm are at an increased risk of developing cognitive problems and behavioural disorders, such as attention deficit hyperactivity disorder (ADHD). There is increasing interest in the role of the cerebellum in these processes and the potential involvement of GABAergic pathways in neurodevelopmental disorders. We propose that preterm birth, and the associated loss of the trophic intrauterine environment, alters the development of the cerebellum, contributing to ongoing neurobehavioral disorders...
October 9, 2017: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29022558/klinefelter-syndrome-in-childhood-variability-in-clinical-and-molecular-findings
#6
Neşe Akcan, Şükran Poyrazoğlu, Firdevs Baş, Rüveyde Bundak, Feyza Darendeliler
OBJECTIVE: Klinefelter syndrome (KS) is the most common (1/500-1/1000) chromosomal disorder in males, but only 10% of cases are identified in childhood. This study aimed to review the data of the children with KS to assess the age and reason for diagnosis, clinical and laboratory findings, as well as the presence of comorbidities. METHODS: Twenty-three KS patients were analyzed retrospectively. Age at admission, presenting symptoms, comorbid problems, height, weight, pubertal status, biochemical findings, hormone profiles, bone mineral density, and karyotype were evaluated...
October 12, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29021889/linguistic-camouflage-in-girls-with-autism-spectrum-disorder
#7
Julia Parish-Morris, Mark Y Liberman, Christopher Cieri, John D Herrington, Benjamin E Yerys, Leila Bateman, Joseph Donaher, Emily Ferguson, Juhi Pandey, Robert T Schultz
BACKGROUND: Autism spectrum disorder (ASD) is diagnosed more frequently in boys than girls, even when girls are equally symptomatic. Cutting-edge behavioral imaging has detected "camouflaging" in girls with ASD, wherein social behaviors appear superficially typical, complicating diagnosis. The present study explores a new kind of camouflage based on language differences. Pauses during conversation can be filled with words like UM or UH, but research suggests that these two words are pragmatically distinct (e...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29020264/examining-the-association-between-temperature-and-emergency-room-visits-from-mental-health-related-outcomes-in-california
#8
Rupa Basu, Lyndsay Gavin, Dharshani Pearson, Keita Ebisu, Brian Malig
Temperature and morbidity has been explored previously. However, the association between temperature and mental health-related outcomes, including violence and self-harm, remains relatively unexamined. We obtained daily counts of mental health-related emergency room visits involving injuries with external cause from the California Office of Statewide Health Planning and Development from 16 California climate zones from 2005 to 2013, and combined them with data on mean apparent temperature, a combination of temperature and humidity...
August 11, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28994786/touchscreen-sustained-attention-task-sat-for-rats
#9
Debra A Bangasser, Brittany Wicks, David E Waxler, Samantha R Eck
Sustained attention is the ability to monitor intermittent and unpredictable events over a prolonged period of time. This attentional process subserves other aspects of cognition and is disrupted in certain neurodevelopmental, neuropsychiatric, and neurodegenerative disorders. Thus, it is clinically important to identify mechanisms that impair and improve sustained attention. Such mechanisms are often first discovered using rodent models. Therefore, several behavior procedures for testing aspects of sustained attention have been developed for rodents...
September 15, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28993631/establishment-of-a-repeated-social-defeat-stress-model-in-female-mice
#10
Aki Takahashi, Jia-Ru Chung, Song Zhang, Hongxing Zhang, Yael Grossman, Hossein Aleyasin, Meghan E Flanigan, Madeline L Pfau, Caroline Menard, Dani Dumitriu, Georgia E Hodes, Bruce S McEwen, Eric J Nestler, Ming-Hu Han, Scott J Russo
Numerous studies have employed repeated social defeat stress (RSDS) to study the neurobiological mechanisms of depression in rodents. An important limitation of RSDS studies to date is that they have been conducted exclusively in male mice due to the difficulty of initiating attack behavior directed toward female mice. Here, we establish a female mouse model of RSDS by inducing male aggression toward females through chemogenetic activation of the ventrolateral subdivision of the ventromedial hypothalamus (VMHvl)...
October 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28993577/effect-of-biochanin-a-versus-17%C3%AE-estradiol-in-rat-submandibular-salivary-gland
#11
Amira M Elsherbini, Mohammed A R Mohammed, Fatma M Ibrahim
The epigenetic nature of development mandates the observation of the effect of any exogenous substance, especially those with estrogenic activities, during critical phases of development. The submandibular gland (SMG) presents as a great model due to extensive postnatal development, and is known to be regulated and affected by hormones as well as growth factors. Herein, we observed postnatal development following low doses of Biochanin A (BCA) and 17β estradiol (E2) in rats. The pups were randomly divided into four groups: control, BCA, E2, and dimethyl sulfoxide (DMSO), and euthanized at the 6th, 15th, 30th, and 60th postnatal days (PND)...
October 6, 2017: Journal of Oral Science
https://www.readbyqxmd.com/read/28993148/the-sexual-event-diary-sed-development-and-validation-of-a-standardized-questionnaire-for-assessing-female-sexual-functioning-during-discrete-sexual-events
#12
Yvonne van Nes, Jos Bloemers, Peter G M van der Heijden, Kim van Rooij, Jeroen Gerritsen, Rob Kessels, Leonard DeRogatis, Adriaan Tuiten
BACKGROUND: The efficacy of on-demand drugs for hypoactive sexual desire disorder (HSDD) or female sexual interest/arousal disorder (FSIAD) should be assessed using a validated instrument that assesses the discrete sexual events during which the on-demand drug is taken. AIM: To develop and validate an event log for measuring sexual satisfaction and sexual functioning of discrete sexual events. METHODS: Psychometric assessment was carried out on data of 10,959 Sexual Event Diaries (SEDs) collected during three clinical trials in a total of 421 women with HSDD...
October 6, 2017: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/28993093/hypersexual-disorder-according-to-the-hypersexual-disorder-screening-inventory-in-help-seeking-swedish-men-and-women-with-self-identified-hypersexual-behavior
#13
Katarina Görts Öberg, Jonas Hallberg, Viktor Kaldo, Cecilia Dhejne, Stefan Arver
INTRODUCTION: The Hypersexual Disorder Screening Inventory (HDSI) was developed by the American Psychiatric Association for clinical screening of hypersexual disorder (HD). AIMS: To examine the distribution of the proposed diagnostic entity HD according to the HDSI in a sample of men and women seeking help for problematic hypersexuality and evaluate some psychometric properties. METHODS: Data on sociodemographics, the HDSI, the Sexual Compulsivity Scale (SCS), and the Cognitive and Behavioral Outcomes of Sexual Behavior were collected online from 16 women and 64 men who self-identified as hypersexual...
October 6, 2017: Sexual Medicine
https://www.readbyqxmd.com/read/28992527/sex-differences-in-the-mediators-of-functional-disability-in-major-depressive-disorder
#14
Nicole E Carmona, Mehala Subramaniapillai, Rodrigo B Mansur, Danielle S Cha, Yena Lee, Dominika Fus, Roger S McIntyre
The aim of this study was to investigate sex differences in discrete domains of psychopathology as mediators of functional disability among individuals with Major Depressive Disorder (MDD). Adults (ages 18-65) with moderate-to-severe MDD (n = 100) and age-, sex-, and education-matched healthy controls (HC; n = 100) participated in a clinical trial validating the THINC-integrated tool, a newly developed cognitive assessment tool for patients with MDD. Variables assessed as possible mediators included depression symptom severity, anxiety symptoms, sleep disturbance, perceived cognitive deficits, and objective cognitive performance...
September 30, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28991697/zika-virus-disease-associated-guillain-barr%C3%A3-syndrome-barranquilla-colombia-2015-2016
#15
Jorge L Salinas, Diana M Walteros, Ashley Styczynski, Flavio Garzón, Hernán Quijada, Elsa Bravo, Pablo Chaparro, Javier Madero, Jorge Acosta-Reyes, Jeremy Ledermann, Zuleima Arteta, Erin Borland, Paul Burns, Maritza Gonzalez, Ann M Powers, Marcela Mercado, Alma Solano, James J Sejvar, Martha L Ospina
BACKGROUND: An outbreak of Guillain-Barré syndrome (GBS), a disorder characterized by acute, symmetric limb weakness with decreased or absent deep-tendon reflexes, was reported in Barranquilla, Colombia, after the introduction of Zika virus in 2015. We reviewed clinical data for GBS cases in Barranquilla and performed a case-control investigation to assess the association of suspect and probable Zika virus disease with GBS. METHODS: We used the Brighton Collaboration Criteria to confirm reported GBS patients in Barranquilla during October 2015-April 2016...
October 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28990350/association-of-dnmt3b-gene-variants-with-sporadic-parkinson-s-disease-in-a-chinese-han-population
#16
Xiang Chen, Yousheng Xiao, Lei Wei, Yijuan Wu, Jianjun Lu, Wenyuan Guo, Shuxuan Huang, Miaomiao Zhou, Mingshu Mo, Zhe Li, Luan Cen, Shaomin Li, ChaohaoYang, Zhuohua Wu, Sophie Hu, Zhong Pei, XinLing Yang, Shaogang Qu, Pingyi Xu
INTRODUCTION: Parkinson's disease (PD) is the second most common neurodegenerative disorder worldwide. Epigenetic modifications, specifically DNA methylation, have been implicated in the development of this disease. Genetic variants of DNA methyltransferase 3b (DNMT3b), one of the most important DNA methyltransferases, were shown to be associated with PD in a Brazilian population. However, it is unclear whether genetic variants of DNMT3b increase the risk of PD in the Chinese Han people...
October 9, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28990148/athletes-and-the-aorta-normal-adaptations-and-the-diagnosis-and-management-of-pathology
#17
REVIEW
J Stephen Hedley, Dermot Phelan
Over a hundred years ago, physicians first recognized that participation in regular, vigorous training resulted in enlargement of the heart. Since that time, the term "athlete's heart" has entered the medical lexicon as a global expression encompassing the electrical, functional, and morphological adaptations that develop in response to physical training. Exercise-induced adaptations of the aorta, which is also exposed to large hemodynamic stresses during prolonged endurance exercise or resistance training, are less well recognized...
October 9, 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28987043/-low-level-of-physical-activity-as-main-risk-factor-of-cancer-in-sanok-s-county-population
#18
Karolina Hombek, Magdalena Jarema, Ewa Smoleń
Physical activity is a key component of a healthy lifestyle. The data of WHO conclude that little physical activity is the fourth key risk factor of premature death. Weight disorder such as obesity and overweight are an significant risk factor in cancer development. AIM: The aim of the study was to determine physical activity in cancer prevention among the population of Sanok's county. MATERIALS AND METHODS: The study covered a group 157 residents of Sanok's county in 2015...
September 29, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28987042/-obesity-overweight-as-main-risk-factors-of-cancer-in-sanok-s-county-population
#19
Karolina Hombek, Magdalena Jarema, Ewa Smoleń
Weight disorder such as obesity and overweight are an significant risk factor in cancer development. AIM: The aim of the study was to determine an obesity and overweight in cancer prevention among the population of Sanok's county. MATERIALS AND METHODS: The research was conducted in 157 residents of Sanok's county in 2015 yrs. A method of diagnostic survey and conventional survey was used. The main research tool was a selfmade survey. In the evaluation of statistical significance we have accepted the level of p<0,05...
September 29, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28986461/gfp-mutant-human-tau-transgenic-mice-develop-tauopathy-following-cns-injections-of-alzheimer-s-brain-derived-pathological-tau-or-synthetic-mutant-human-tau-fibrils
#20
Rachel A Banks, Garrett S Gibbons, Bumjin Kim, Hong Xu, Lakshmi Changolkar, Susan N Leight, Dawn M Riddle, Chi Li, Ronald J Gathagan, Hannah J Brown, Bin Zhang, John Q Trojanowski, Virginia M-Y Lee
Neurodegenerative proteinopathies characterized by intracellular aggregates of tau proteins, termed tauopathies, include Alzheimer's disease (AD), frontotemporal lobar degeneration (FTLD) with tau pathology (FTLD-tau), and related disorders. Pathological tau proteins derived from human AD brains (AD-tau) act as proteopathic seeds that initiate the templated aggregation of soluble tau upon intracerebral injection into tau transgenic (Tg) and wild type (WT) mice thereby modeling human tau pathology. In this study, we found that aged Tg mice of both sexes expressing human tau proteins harboring a pathogenic P301L MAPT mutation labeled with green fluorescent protein (T40PL-GFP Tg mouse line) exhibited hyperphosphorylated tau mislocalized to the somatodentritic domain of neurons, but these mice did not develop de novo insoluble tau aggregates characteristic of human AD and related tauopathies...
October 6, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
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