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Disorder of sex development

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https://www.readbyqxmd.com/read/29678855/de-novo-sox10-nonsense-mutation-in-a-patient-with-kallmann-syndrome-deafness-iris-hypopigmentation-and-hyperthyroidism
#1
Fang Wang, Shaoli Zhao, Yanhong Xie, Wenjun Yang, Zhaohui Mo
Kallmann syndrome (KS) is a clinically and genetically heterogeneous disorder characterized by hypogonadotropic hypogonadism and olfactory dysfunction. Recently, mutations in SOX10, a well-known causative gene of Waardenburg syndrome (WS), have been identified in a few KS patients with additional developmental defects including hearing loss. However, the understanding of SOX10 mutation associates with KS and other clinical consequences remains fragmentary. A 30-year-old Chinese male patient presented with no pubertal sex development when he was at the age of twelve years...
March 2018: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/29678754/sex-and-age-dependent-effects-of-orexin-1-receptor-blockade-on-open-field-behavior-and-neuronal-activity
#2
Shannon R Blume, Hannah Nam, Sandra Luz, Debra A Bangasser, Seema Bhatnagar
Adolescence is a sensitive and critical period in brain development where psychiatric disorders such as anxiety, depression and post-traumatic stress disorder are more likely to emerge following a stressful life event. Females are two times more likely to suffer from psychiatric disorders than males. Patients with these disorders show alterations in orexins (also called hypocretins), important neuropeptides that regulate arousal, wakefulness and the hypothalamic-pituitary-adrenal axis activity. Little is known on the role of orexins in mediating arousal behaviors in male and female rats during adolescence or adulthood...
April 17, 2018: Neuroscience
https://www.readbyqxmd.com/read/29675677/quantitative-anatomy-of-the-ilium-s-primary-ossification-center-in-the-human-fetus
#3
Mariusz Baumgart, Marcin Wiśniewski, Magdalena Grzonkowska, Mateusz Badura, Maciej Biernacki, Zygmunt Siedlecki, Aleksandra Szpinda, Michał Szpinda, Katarzyna Pawlak-Osińska
PURPOSE: An understanding of the development of the ilium's primary ossification center may be useful in both determining the fetal stage and maturity, and for detecting congenital disorders. This study was performed to quantitatively examine the ilium's primary ossification center with respect to its linear, planar and volumetric parameters. MATERIALS AND METHODS: Using methods of CT, digital-image analysis and statistics, the size of the ilium's primary ossification center in 42 spontaneously aborted human fetuses of crown-rump length (CRL) ranged from 130 to 265 mm (aged 18-30 weeks) was studied...
April 19, 2018: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/29674600/incidence-and-comorbidity-of-reactive-attachment-disorder-based-on-national-health-insurance-claims-data-2010-2012-in-korea
#4
Minha Hong, Duk Soo Moon, Hyejung Chang, Seung Yup Lee, Seong Woo Cho, Kyung-Sook Lee, Jin-Ah Park, Sang Min Lee, Geon Ho Bahn
Objective: We aimed to investigate the current diagnostic incidence and medical and psychiatric comorbidities of reactive attachment disorder (RAD) using the National Health Insurance Review and Assessment (HIRA) claims data. Methods: To examine the diagnostic incidence, we selected patients who were under 10-year-old and had at least one medical claim containing a 10th revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10) code for RAD (F94...
April 20, 2018: Psychiatry Investigation
https://www.readbyqxmd.com/read/29674372/obesity-and-eating-disorders-in-integrative-prevention-programmes-for-adolescents-protocol-for-a-systematic-review-and-meta-analysis
#5
Ana Carolina Barco Leme, Debbe Thompson, Karin Louise Lenz Dunker, Theresa Nicklas, Sonia Tucunduva Philippi, Tabbetha Lopez, Lydi-Anne Vézina-Im, Tom Baranowski
INTRODUCTION: Obesity and eating disorders are public health problems that have lifelong financial and personal costs and common risk factors, for example, body dissatisfaction, weight teasing and disordered eating. Obesity prevention interventions might lead to the development of an eating disorder since focusing on weight may contribute to excessive concern with diet and weight. Therefore, the proposed research will assess whether integrating obesity and eating disorder prevention procedures ('integrated approach') do better than single approach interventions in preventing obesity among adolescents, and if integrated approaches influence weight-related outcomes...
April 19, 2018: BMJ Open
https://www.readbyqxmd.com/read/29673731/duplication-of-sox9-associated-with-46-xx-ovotesticular-disorder-of-sex-development
#6
Berenice López-Hernández, Juan Pablo Méndez, Ramón Mauricio Coral-Vázquez, Jesús Benítez-Granados, Juan Carlos Zenteno, Vanessa Villegas-Ruiz, Raúl Calzada-León, Daniela Soderlund, Patricia Canto
RESEARCH QUESTION: The purpose of the present study was to investigate whether ten unrelated SRY-negative individuals with this sex differentiation disorder presented a double dose of SOX9 as the cause of their disease. DESIGN: Ten unrelated SRY-negative 46,XX ovotesticular disorder of sexual development (DSD) subjects were molecularly studied. Multiplex-ligation dependent probe amplification (MLPA) and quantitative real-time PCR analysis (qRT-PCR) for SOX9 were performed...
April 4, 2018: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29673397/sex-differences-in-kinematic-adaptations-to-muscle-fatigue-induced-by-repetitive-upper-limb-movements
#7
Jason Bouffard, Chen Yang, Mickael Begon, Julie Côté
BACKGROUND: Muscle fatigue induced by repetitive movements contributes to the development of musculoskeletal disorders. Men and women respond differently to muscle fatigue during isometric single-joint efforts, but sex differences during dynamic multi-joint tasks have not been clearly identified. Moreover, most studies comparing men and women during fatigue development assessed endurance time. However, none evaluated sex differences in kinematic adaptations to fatigue during multi-joint dynamic tasks...
April 19, 2018: Biology of Sex Differences
https://www.readbyqxmd.com/read/29673080/systemic-sclerosis-and-malignancy
#8
Gokhan Sargin, Taskin Senturk, Songul Cildag
BACKGROUND: Systemic sclerosis (SSc) has increased risk of morbidity and mortality due to pulmonary fibrosis, pulmonary arterial hypertension, renal crisis, infections and malignancies. Chemical exposure, smoking and cytotoxic drugs increase the malignancy risk in rheumatic diseases including SSc. We aim to evaluate characteristics, identify risk factors and mortality in SSc patients with malignancies. METHODS: One hundred and fifty-three patients with SSc (24 male, 129 female, with mean age of 56...
April 19, 2018: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29672082/predicting-ptsd-severity-from-experiences-of-trauma-and-heterosexism-in-lesbian-and-bisexual-women-a-longitudinal-study-of-cognitive-mediators
#9
Emily R Dworkin, Amanda K Gilmore, Michele Bedard-Gilligan, Keren Lehavot, Katarína Guttmannova, Debra Kaysen
Sexual minority women (SMW) are at high risk of trauma exposure and, subsequently, the development of posttraumatic stress disorder (PTSD). The authors extended a theoretical model explaining the higher risk of mental disorders in minority populations to the maintenance and exacerbation of PTSD symptoms among young adult SMW specifically. This study used observational longitudinal data from a sample of 348 trauma-exposed 18- to 25-year-old individuals assigned female sex at birth who identified as either bisexual (60...
April 2018: Journal of Counseling Psychology
https://www.readbyqxmd.com/read/29671814/sex-specific-alterations-in-%C3%AE-4-nicotinic-receptor-expression-in-the-nucleus-accumbens
#10
Joan Y Holgate, Josephine R Tarren, Selena E Bartlett
Background : The mechanisms leading from traumatic stress to social, emotional and cognitive impairment and the development of mental illnesses are still undetermined and consequently there remains a critical need to develop therapies for preventing the adverse consequences of traumatic stress. Research indicates nicotinic acetylcholine receptors containing α4 subunits (α4*nAChRs) are both impacted by stress and capable of modulating the stress response. In this study, we investigated whether varenicline, a partial α4β2*nAChR agonist which reduces nicotine, alcohol and sucrose consumption, can reduce stress, a driving factor in substance use disorders...
April 19, 2018: Brain Sciences
https://www.readbyqxmd.com/read/29670578/gata4-variants-in-individuals-with-a-46-xy-disorder-of-sex-development-dsd-may-or-may-not-be-associated-with-cardiac-defects-depending-on-second-hits-in-other-dsd-genes
#11
Idoia Martinez de LaPiscina, Carmen de Mingo, Stefan Riedl, Amaia Rodriguez, Amit V Pandey, Mónica Fernández-Cancio, Nuria Camats, Andrew Sinclair, Luis Castaño, Laura Audi, Christa E Flück
Disorders of sex development (DSD) consist of a wide range of conditions involving numerous genes. Nevertheless, about half of 46,XY individuals remain genetically unsolved. GATA4 gene variants, mainly related to congenital heart defects (CHD), have also been recently associated with 46,XY DSD. In this study, we characterized three individuals presenting with 46,XY DSD with or without CHD and GATA4 variants in order to understand the phenotypical variability. We studied one patient presenting CHD and 46,XY gonadal dysgenesis, and two patients with a history of genetically unsolved 46,XY DSD, also known as male primary hypogonadism...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29669170/risk-factors-for-hepatocellular-carcinoma-by-age-sex-and-liver-disorder-status-a-prospective-cohort-study-in-korea
#12
Sang-Wook Yi, Ja-Sung Choi, Jee-Jeon Yi, Yong-Ho Lee, Ki Jun Han
BACKGROUND: To the authors' knowledge, relatively little is known regarding the interaction of risk factors for hepatocellular carcinoma (HCC) with age, sex, and liver disorder status. METHODS: The authors followed 504,646 Korean patients aged 40 to 80 years who underwent routine health checkups between 2002 and 2003 until 2013 via linkage to national hospital discharge records. RESULTS: HCC occurred in 2744 individuals. In the sex-adjusted and age-adjusted analysis, cirrhosis increased the incidence of HCC by 42-fold, followed by hepatitis B virus (21-fold), hepatitis C virus (HCV; 19-fold), male sex (4...
April 18, 2018: Cancer
https://www.readbyqxmd.com/read/29668471/evaluation-of-the-role-of-abcb1gene-polymorphic-variants-on-psychiatric-disorders-predisposition-in-macedonian-population
#13
Zorica Naumovska, Aleksandra K Nestorovska, Zoran Sterjev, Ana Filipce, Aleksandra Grozdanova, Aleksandar Dimovski, Ljubica Suturkova, Vladimir Serafimoski
The psychiatric and other CNS disorders are characterized with unregulated neuro-inflammatory processes and chronic microglia cell activation resulting with detrimental effect. ABCB1gene polymorphismsC1236T, G2677T/Aand C3435T are associated with P-glycoprotein expression and function andare linked with predisposition to psychiatric disorders such as schizophrenia and bipolar disorders. The relationship between mood disorders and glucocorticoids has been confirmed and ABCB1 SNPs influence the glucocorticoids access to the brain...
December 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/29668062/long-term-outcomes-and-molecular-analysis-of-a-large-cohort-of-patients-with-46-xy-disorder-of-sex-development-due-to-partial-gonadal-dysgenesis
#14
Nathalia Lisboa Gomes, Antônio Marcondes Lerário, Aline Machado Zamboni, Daniela Rodrigues de Moraes, Thatiana Evilen da Silva, Ivo Jorge Prado Arnhold, Rafael Loch Batista, José Antônio Diniz Faria Júnior, Elaine F Costa, Mirian Y Nishi, Marlene Inacio, Sorahia Domenice, Berenice B Mendonca
BACKGROUND: Follow-up data on patients with 46,XY partial gonadal dysgenesis (PGD) until adulthood are scarce, making information on prognosis difficult. OBJECTIVE: To analyse the long-term outcomes of patients with 46,XY PGD regarding testosterone production, germ cell tumour risk, genotype, and psychosexual adaptation. METHODS: A retrospective longitudinal study of 33 patients (20 assigned male and 13 patients assigned female at birth). Molecular diagnosis was performed by Sanger sequencing or by targeted massively parallel sequencing of 63 genes related to disorders of sex development (DSDs)...
April 18, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29667272/different-brain-networks-underlying-intelligence-in-autism-spectrum-disorders
#15
Emmanuel Peng Kiat Pua, Charles B Malpas, Stephen C Bowden, Marc L Seal
There has been sustained clinical and cognitive neuroscience research interest in how network correlates of brain-behavior relationships might be altered in Autism Spectrum Disorders (ASD) and other neurodevelopmental disorders. As previous work has mostly focused on adults, the nature of whole-brain connectivity networks underlying intelligence in pediatric cohorts with abnormal neurodevelopment requires further investigation. We used network-based statistics (NBS) to examine the association between resting-state functional Magnetic Resonance Imaging (fMRI) connectivity and fluid intelligence ability in male children (n = 50) with Autism Spectrum Disorders (ASD; M = 10...
April 17, 2018: Human Brain Mapping
https://www.readbyqxmd.com/read/29667198/alcohol-availability-and-onset-and-recurrence-of-alcohol-use-disorder-examination-in-a-longitudinal-cohort-with-co-sibling-analysis
#16
Katherine J Karriker-Jaffe, Henrik Ohlsson, Kenneth S Kendler, Won Kim Cook, Kristina Sundquist
BACKGROUND: Recent reviews of associations of alcohol availability with alcohol outcomes suggest findings are highly inconsistent and highlight a lack of longitudinal and causal evidence. Effect modification (moderation or statistical interaction), which could contribute to the inconsistent picture in the existing literature, has not been systematically assessed. We examined associations of alcohol availability with onset and recurrence of alcohol use disorder (AUD) using multi-level, longitudinal population data from Sweden and test hypothesized effect modifiers to identify groups for whom increased alcohol availability may be particularly risky...
April 18, 2018: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/29665513/levels-of-depression-in-transgender-people-and-its-predictors-results-of-a-large-matched-control-study-with-transgender-people-accessing-clinical-services
#17
Gemma L Witcomb, Walter Pierre Bouman, Laurence Claes, Nicola Brewin, John R Crawford, Jon Arcelus
BACKGROUND: Depression is a serious disorder which significantly impacts wellbeing and quality of life. Studies exploring mental wellbeing in the transgender population are mostly limited by small, non-homogenous samples and lack of matched controls. This study aimed to address these limitations and explore depression rates in a large sample of transgender people, compared with matched controls from the general population, as well as factors predicting depression in those taking cross-sex hormone treatment (CHT) compared to those not...
February 17, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29665124/how-does-dementia-with-lewy-bodies-start-prodromal-cognitive-changes-in-rem-sleep-behavior-disorder
#18
Daphné Génier Marchand, Ronald B Postuma, Frédérique Escudier, Jessie De Roy, Amélie Pelletier, Jacques Montplaisir, Jean-François Gagnon
Objective We describe the progression of cognitive decline and identify the predictive values of cognitive tests in three groups of REM sleep behavior disorder (RBD) patients classified at their last follow-up as having Parkinson's disease (PD), dementia with Lewy bodies (DLB), or still-idiopathic. Methods Patients (n=109) underwent polysomnographic, neurological, and neuropsychological assessments. We used linear mixed-model analyses to compare the progression of cognitive test performance between the three groups over a three-year prodromal period, and performed linear regressions for a six-year prodromal period...
April 17, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29662502/sex-dependent-effects-of-developmental-lead-exposure-on-the-brain
#19
REVIEW
Garima Singh, Vikrant Singh, Marissa Sobolewski, Deborah A Cory-Slechta, Jay S Schneider
The role of sex as an effect modifier of developmental lead (Pb) exposure has until recently received little attention. Lead exposure in early life can affect brain development with persisting influences on cognitive and behavioral functioning, as well as, elevated risks for developing a variety of diseases and disorders in later life. Although both sexes are affected by Pb exposure, the incidence, manifestation, and severity of outcomes appears to differ in males and females. Results from epidemiologic and animal studies indicate significant effect modification by sex, however, the results are not consistent across studies...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29661835/sexual-differentiation-of-contextual-fear-responses
#20
Lorianna Colon, Natalie Odynocki, Anthony Santarelli, Andrew M Poulos
Development and sex differentiation impart an organizational influence on the neuroanatomy and behavior of mammalian species. Prior studies suggest that brain regions associated with fear motivated defensive behavior undergo a protracted and sex-dependent development. Outside of adult animals, evidence for developmental sex differences in conditioned fear is sparse. Here, we examined in male and female Long-Evans rats how developmental age and sex affect the long-term retention and generalization of Pavlovian fear responses...
May 2018: Learning & Memory
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