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Disorder of sex development

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https://www.readbyqxmd.com/read/28449132/sex-and-diffusion-tensor-imaging-of-white-matter-in-schizophrenia-a-systematic-review-plus-meta-analysis-of-the-corpus-callosum
#1
Saba Shahab, Laura Stefanik, George Foussias, Meng-Chuan Lai, Kelly K Anderson, Aristotle N Voineskos
Sex is considered an understudied variable in health research. Schizophrenia is a brain disorder with known sex differences in epidemiology and clinical presentation. We systematically reviewed the literature for sex-based differences of diffusion properties of white matter tracts in schizophrenia. We then conducted a meta-analysis examining sex-based differences in the genu and splenium of the corpus callosum in schizophrenia. Medline and Embase were searched to identify relevant papers. Studies fulfilling the following criteria were included: (1) included individuals with a diagnosis of schizophrenia, (2) included a control group of healthy individuals, (3) included both sexes in the patient and the control groups, (4) used diffusion tensor imaging, and (5) involved analyzing metrics of white matter microstructural integrity...
April 26, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28448948/interactions-between-the-vascular-endothelial-growth-factor-gene-polymorphism-and-life-events-in-susceptibility-to-major-depressive-disorder-in-a-chinese-population
#2
Dong Han, Zhengxue Qiao, Lu Chen, Xiaohui Qiu, Deyu Fang, Xiuxian Yang, Jingsong Ma, Mingqi Chen, Jiarun Yang, Lin Wang, Xiongzhao Zhu, Congpei Zhang, Yanjie Yang, Hui Pan
BACKGROUND: Recent studies suggest that vascular endothelial growth factor (VEGF) is involved in the development of major depressive disorder. The aim of this study is to investigate the interaction between vascular endothelial growth factor (VEGF) polymorphism (+405G/C, rs2010963) and negative life events in the pathogenesis of major depressive disorder (MDD). METHODS: DNA genotyping was performed on peripheral blood leukocytes in 274 patients with MDD and 273 age-and sex-matched controls...
April 19, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28446958/syndromic-disorder-of-sex-development-due-to-a-novel-hemizygous-mutation-in-the-carboxyl-terminal-domain-of-atrx
#3
Masaki Takagi, Hiroko Yagi, Ryuji Fukuzawa, Satoshi Narumi, Tomonobu Hasegawa
Alpha-thalassemia/mental retardation syndrome X-linked (ATRX; OMIM #301040), which is caused by mutations in the ATRX gene, is characterized by alpha-thalassemia, distinct dysmorphic facies, psychomotor development delay and genital abnormalities. Here, we describe a neonatal case of syndromic disorder of sex development, harboring a novel hemizygous mutation, p.Asp2352fs*1 in the carboxyl-terminal domain of ATRX. Our study provides additional evidence that deletion of the carboxyl terminus of ATRX is associated with severe genital anomalies...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28446254/functional-neuroimaging-of-sex-differences-in-autobiographical-memory-recall-in-depression
#4
K D Young, J Bodurka, W C Drevets
BACKGROUND: Females are more likely than males to develop major depressive disorder (MDD). The current study used fMRI to compare the neural correlates of autobiographical memory (AM) recall between males and females diagnosed with MDD. AM overgenerality is a persistent cognitive deficit in MDD, the magnitude of which is correlated with depressive severity only in females. Delineating the neurobiological correlates of this deficit may elucidate the nature of sex-differences in the diathesis for developing MDD...
April 27, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28445692/perspectives-on-testicular-sex-cord-stromal-tumors-and-those-composed-of-both-germ-cells-and-sex-cord-stromal-derivatives-with-a-comparison-to-corresponding-ovarian-neoplasms
#5
Lawrence M Roth, Bingjian Lyu, Liang Cheng
Sex cord-stromal tumors (SCSTs) are the second most frequent category of testicular neoplasms, accounting for approximately 2-5% of cases. Both genetic and epigenetic factors account for the differences in frequency and histologic composition between testicular and ovarian SCSTs. For example, large cell calcifying Sertoli cell tumor and intratubular large cell hyalinizing Sertoli cell neoplasia occur in the testis but have not been described in the ovary. In this article, we discuss recently described diagnostic entities as well as inconsistencies in nomenclature used in the recent World Health Organization classifications of SCSTs in the testis and ovary...
April 23, 2017: Human Pathology
https://www.readbyqxmd.com/read/28444554/relationships-between-environmental-factors-and-participation-in-adults-with-traumatic-brain-injury-stroke-and-spinal-cord-injury-a-cross-sectional-multi-center-study
#6
Alex W K Wong, Sheryl Ng, Jessica Dashner, M Carolyn Baum, Joy Hammel, Susan Magasi, Jin-Shei Lai, Noelle E Carlozzi, David S Tulsky, Ana Miskovic, Arielle Goldsmith, Allen W Heinemann
PURPOSE: To develop and evaluate a model of environmental factors-participation relationships for persons with traumatic brain injury (TBI), stroke, and spinal cord injury (SCI), and test whether this model differed across three diagnostic groups, as well as other demographic and clinical characteristics. METHODS: A cross-sectional observational study included 545 community-dwelling adults with neurological disorders (TBI = 166; stroke = 189; SCI = 190) recruited at three academic medical centers...
April 25, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/28440697/the-prevalence-of-calcification-around-odontoid-process-and-the-incidence-of-crowned-dens-syndrome-in-the-neurosurgical-ward-a-single-institution-s-analysis
#7
Masakazu Sano, Shinya Yamashita, Toyotaka Aiba
OBJECTIVE: The objective of this study is to assess the prevalence and natural history of odontoid calcification and to identify factors related to its progression to crowned dens syndrome (CDS). METHODS: We reviewed a consecutive series of patients who underwent head CT upon admission to the neurosurgical ward of Niigata Prefectural Shibata Hospital. We evaluated the relationship between the presence of odontoid calcification and the patient's age, sex, and primary disorder for admission...
April 25, 2017: Modern Rheumatology
https://www.readbyqxmd.com/read/28439101/largest-gwas-of-ptsd-n-20%C3%A2-070-yields-genetic-overlap-with-schizophrenia-and-sex-differences-in-heritability
#8
L E Duncan, A Ratanatharathorn, A E Aiello, L M Almli, A B Amstadter, A E Ashley-Koch, D G Baker, J C Beckham, L J Bierut, J Bisson, B Bradley, C-Y Chen, S Dalvie, L A Farrer, S Galea, M E Garrett, J E Gelernter, G Guffanti, M A Hauser, E O Johnson, R C Kessler, N A Kimbrel, A King, N Koen, H R Kranzler, M W Logue, A X Maihofer, A R Martin, M W Miller, R A Morey, N R Nugent, J P Rice, S Ripke, A L Roberts, N L Saccone, J W Smoller, D J Stein, M B Stein, J A Sumner, M Uddin, R J Ursano, D E Wildman, R Yehuda, H Zhao, M J Daly, I Liberzon, K J Ressler, C M Nievergelt, K C Koenen
The Psychiatric Genomics Consortium-Posttraumatic Stress Disorder group (PGC-PTSD) combined genome-wide case-control molecular genetic data across 11 multiethnic studies to quantify PTSD heritability, to examine potential shared genetic risk with schizophrenia, bipolar disorder, and major depressive disorder and to identify risk loci for PTSD. Examining 20 730 individuals, we report a molecular genetics-based heritability estimate (h(2)SNP) for European-American females of 29% that is similar to h(2)SNP for schizophrenia and is substantially higher than h(2)SNP in European-American males (estimate not distinguishable from zero)...
April 25, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28436719/gambling-frequency-and-symptoms-of-attention-deficit-hyperactivity-disorder-in-relation-to-problem-gambling-among-swedish-adolescents-a-population-based-study
#9
Charlotta Hellström, Philippe Wagner, Kent W Nilsson, Jerzy Leppert, Cecilia Åslund
AIM: To investigate the associations between gambling frequency, attention-deficit hyperactivity disorder (ADHD) symptoms, and problem gambling among adolescent boys and girls. One hypothesis was that adolescents with increased ADHD symptoms have a higher frequency of gambling compared to adolescents with fewer ADHD symptoms. METHOD: A population-based sample of adolescents (aged 15-18 years) completed a questionnaire on demographics, gambling habits, ADHD symptoms, and problematic gambling; 1412 adolescents (from 4440 sampled) with gambling experience were included in the final sample...
April 24, 2017: Upsala Journal of Medical Sciences
https://www.readbyqxmd.com/read/28436135/psychiatric-medication-use-before-and-after-the-onset-of-type-1-diabetes-in-children-and-adolescents-a-population-based-cohort-study
#10
Soulmaz Fazeli Farsani, Heshu Abdullah-Koolmees, Patrick C Souverein, Anthonius de Boer, Aukje K Mantel-Teeuwisse
BACKGROUND: Several studies showed a bidirectional association between type 2 diabetes and psychiatric disorders in adults. Because there is limited information on the association between type 1 diabetes (T1D) and psychiatric disorders (including psychiatric medication use) in children and adolescents, we assessed frequency of use of these medications before and after the onset of T1D. METHODS: A population-based cohort study was conducted in the Dutch PHARMO Record Linkage System (1999-2009)...
April 24, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28435326/the-association-between-thyroid-disorders-and-incident-gout-population-based-case-control-study
#11
Saskia G Bruderer, Christoph R Meier, Susan S Jick, Michael Bodmer
CONTEXT: Thyroid hormones influence kidney function and thereby might alter serum urate levels, a major risk factor for gouty arthritis. OBJECTIVE: To assess the risk of developing incident gout in association with hypothyroidism or hyperthyroidism. DESIGN: Retrospective population-based case-control analysis. SETTING: UK-based Clinical Practice Research Datalink, a primary care research database. PATIENTS: We identified adult patients with a diagnosis of incident gout between 1990 and 2014...
2017: Clinical Epidemiology
https://www.readbyqxmd.com/read/28435083/subchronic-glucocorticoids-glutathione-depletion-and-a-postpartum-model-elevate-monoamine-oxidase-a-activity-in-the-prefrontal-cortex-of-rats
#12
Sofia Raitsin, Junchao Tong, Stephen Kish, Xin Xu, Lilia Magomedova, Carolyn Cummins, Ana C Andreazza, Gustavo Scola, Glen Baker, Jeffrey H Meyer
Recent human brain imaging studies implicate dysregulation of monoamine oxidase-A (MAO-A), in particular in the prefrontal cortex (PFC) and anterior cingulate cortex (ACC), in the development of major depressive disorder (MDD). This study investigates the influence of four alterations underlying important pathologies of MDD, namely, chronic elevation of glucocorticoid levels, glutathione depletion, changes in female gonadal sex hormones and serotonin concentration fluctuation, on MAO-A and MAO-B activity in rats...
April 20, 2017: Brain Research
https://www.readbyqxmd.com/read/28434637/clinical-heterogeneity-in-children-with-gonadal-dysgenesis-associated-with-non-mosaic-46-xy-karyotype
#13
Y S Wong, Y H Tam, K K Y Pang, K F To, S S C Chan, K W Chan, K H Lee
INTRODUCTION: Gonadal dysgenesis is unique in disorders of sex development (DSD), in that it can be associated with 46,XX, 46,XY or mosaic 45,X/46,XY karyotypes. Gonadal dysgenesis can be partial or complete. Gonadal dysgenesis associated with the Y-chromosome has increased risk of gonadal germ cell neoplasms. Most of the literature focus on 45,X/46,XY gonadal dysgenesis, while there are scanty data on the condition when the karyotype is non-mosaic 46,XY. OBJECTIVE: To investigate the diversity of clinical pictures of children presenting with 46,XY DSD due to gonadal dysgenesis...
April 10, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28432156/epidemiology-of-valvular-heart-disease-in-a-swedish-nationwide-hospital-based-register-study
#14
Pontus Andell, Xinjun Li, Andreas Martinsson, Charlotte Andersson, Martin Stagmo, Bengt Zöller, Kristina Sundquist, J Gustav Smith
OBJECTIVE: Transitions in the spectrum of valvular heart diseases (VHDs) in developed countries over the 20th century have been reported from clinical case series, but large, contemporary population-based studies are lacking. METHODS: We used nationwide registers to identify all patients with a first diagnosis of VHD at Swedish hospitals between 2003 and 2010. Age-stratified and sex-stratified incidence of each VHD and adjusted comorbidity profiles were assessed...
April 21, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28432036/increased-inflammation-from-childhood-to-adolescence-predicts-sleep-apnea-in-boys-a-preliminary-study
#15
Jordan Gaines, Alexandros N Vgontzas, Julio Fernandez-Mendoza, Fan He, Susan L Calhoun, Duanping Liao, Edward O Bixler
While chronic systemic inflammation in obstructive sleep apnea (OSA) has been traditionally considered a consequence of intermittent hypoxia, several treatment studies targeting inflammation suggest that this process may precede the development of the disorder. A recent cross-sectional study in the Penn State Child Cohort (PSCC) revealed that inflammation largely mediates the association between visceral adiposity and OSA in adolescence. The purpose of this study was to examine for the first time whether, longitudinally, inflammation precedes OSA during this developmental period...
April 18, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/28429618/the-clinician-perspective-on-sex-differences-in-autism-spectrum-disorders
#16
Rene Jamison, Somer L Bishop, Marisela Huerta, Alycia K Halladay
Research studies using existing samples of individuals with autism spectrum disorders have identified differences in symptoms between males and females. Differences are typically reported in school age and adolescence, with similarities in symptom presentation at earlier ages. However, existing studies on sex differences are significantly limited, making it challenging to discern if, how, and at what point in development females with autism spectrum disorder actually exhibit a different behavioral presentation than males...
April 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28429223/sex-related-characteristics-of-systemic-hormonal-homeostasis-in-rats-with-sarcoma-c-45-cells-transplanted-to-the-lung
#17
M B Kozlova, E M Frantsiyants, L K Trepitaki, I V Kaplieva, Yu A Pogorelova, G Z Sergostyants, T G Airapetova, A V Chubaryan
Sex-related systemic status of pituitary and thyroid hormones and cortisol was studied in rats on days 7 and 14 after transplantation of sarcoma C-45 cells into the lung. Females demonstrated slower development of the tumor process (49.0±10.7 vs. 32.0±3.9 days in males). Injection of tumor cells causes similar disorders in the levels of ACTH, thyrotropic hormone, and prolactin in males and females and opposite disorders in the thyroid and glucocorticoid homeostasis associated in males (in contrast to females) with reduction of cortisol level (by 1...
April 21, 2017: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28424654/emerging-approaches-for-validating-and-managing-multiple-sclerosis-relapse
#18
REVIEW
Elizabeth A Mills, Ali Mirza, Yang Mao-Draayer
The autoimmune disease multiple sclerosis (MS) is characterized by relapses in the majority of patients. A definitive clinical diagnosis of relapse in MS can be complicated by the presence of an infection or comorbid disorder. In this mini-review, we describe efforts to develop enhanced imaging techniques and biomarker detection as future tools for relapse validation. There is emerging evidence of roles for meningeal inflammation, sex hormones, comorbid metabolic or mood disorders, and a dysregulated immune profile in the manifestation and severity of relapse...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28424375/mitochondria-a-central-target-for-sex-differences-in-pathologies
#19
REVIEW
Renée Ventura-Clapier, Maryline Moulin, Jérôme Piquereau, Christophe Lemaire, Mathias Mericskay, Vladimir Veksler, Anne Garnier
It is increasingly acknowledged that a sex and gender specificity affects the occurrence, development, and consequence of a plethora of pathologies. Mitochondria are considered as the powerhouse of the cell because they produce the majority of energy-rich phosphate bonds in the form of adenosine tri-phosphate (ATP) but they also participate in many other functions like steroid hormone synthesis, reactive oxygen species (ROS) production, ionic regulation, and cell death. Adequate cellular energy supply and survival depend on mitochondrial life cycle, a process involving mitochondrial biogenesis, dynamics, and quality control via mitophagy...
May 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28417257/additive-effect-of-congenital-heart-disease-and-early-developmental-disorders-on-attention-deficit-hyperactivity-disorder-and-autism-spectrum-disorder-a-nationwide-population-based-longitudinal-study
#20
Pei-Chen Tsao, Yu-Sheng Lee, Mei-Jy Jeng, Ju-Wei Hsu, Kai-Lin Huang, Shih-Jen Tsai, Mu-Hong Chen, Wen-Jue Soong, Yu Ru Kou
In this retrospective nationwide population-based case-control study, we investigated the impact of congenital heart disease (CHD) on the development of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), which remains unclear. Children aged <18 years that were diagnosed with CHD (n = 3552) between January 1, 1997 and December 31, 2009 were identified from the National Health Insurance Research Database in Taiwan. Non-CHD controls (n = 14,208) matched for age and sex (1:4) were selected from the same dataset...
April 17, 2017: European Child & Adolescent Psychiatry
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