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https://www.readbyqxmd.com/read/28212442/ecto-5-nucleotidase-cd73-nt5e-vitamin-d-receptor-and-fgf23-gene-polymorphisms-may-play-a-role-in-the-development-of-calcific-uremic-arteriolopathy-in-dialysis-patients-data-from-the-german-calciphylaxis-registry
#1
Hansjörg Rothe, Vincent Brandenburg, Margot Haun, Barbara Kollerits, Florian Kronenberg, Markus Ketteler, Christoph Wanner
INTRODUCTION: Calciphylaxis/calcific uremic arteriolopathy affects mainly end-stage kidney disease patients but is also associated with malignant disorders such as myeloma, melanoma and breast cancer. Genetic risk factors of calciphylaxis have never been studied before. METHODS: We investigated 10 target genes using a tagging SNP approach: the genes encoding CD73/ ecto-5'-nucleotidase (purinergic pathway), Matrix Gla protein, Fetuin A, Bone Gla protein, VKORC1 (all related to intrinsic calcification inhibition), calcium-sensing receptor, FGF23, Klotho, vitamin D receptor, stanniocalcin 1 (all related to CKD-MBD)...
2017: PloS One
https://www.readbyqxmd.com/read/28209183/variants-in-congenital-hypogonadotrophic-hypogonadism-genes-identified-in-an-indonesian-cohort-of-46-xy-under-virilised-boys
#2
Katie L Ayers, Aurore Bouty, Gorjana Robevska, Jocelyn A van den Bergen, Achmad Zulfa Juniarto, Nurin Aisyiyah Listyasari, Andrew H Sinclair, Sultana M H Faradz
BACKGROUND: Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis. In particular, reduced production, secretion or action of gonadotrophin-releasing hormone (GnRH) is often responsible. Various genes, many of which play a role in the development and function of the GnRH neurons, have been implicated in these disorders. Clinically, CHH and KS are heterogeneous; however, in 46,XY patients, they can be characterised by under-virilisation phenotypes such as cryptorchidism and micropenis or delayed puberty...
February 16, 2017: Human Genomics
https://www.readbyqxmd.com/read/28208013/sex-differences-in-autism-like-behavioral-phenotypes-and-postsynaptic-receptors-expression-in-the-prefrontal-cortex-of-tert-transgenic-mice
#3
Ki Chan Kim, Kyu Suk Cho, Sung Min Yang, Edson Luck Gonzales, Schley Valencia, Pyeong Hwa Eun, Chang Soon Choi, Darine Froy Mabunga, Ji-Woon Kim, Judy Kyoungju Noh, Hee Jin Kim, Se Jin Jeon, Seol-Heui Han, Geon Ho Bahn, Chan Young Shin
Autism spectrum disorder (ASD) remains unexplained and untreated despite the high attention of research in recent years. Aside from its various characteristics is the baffling male preponderance over the female population. Using a validated animal model of ASD which is the telomerase reverse transcriptase overexpressing mice (TERT-tg), we conducted ASD-related behavioral assessments and protein expression experiments to mark the difference between male and females of this animal model. After statistically analyzing the results, we found significant effects of TERT overexpression in sociability, social novelty preference, anxiety, nest building, and electroseizure threshold in the males but not their female littermates...
February 17, 2017: Biomolecules & Therapeutics
https://www.readbyqxmd.com/read/28207918/disruptive-mood-dysregulation-disorder-and-its-effect-on-bipolar-disorder
#4
Shama Faheem, Victoria Petti, George Mellos
BACKGROUND: In the last few decades, a noticeable increase in the diagnosis of bipolar disorder (BD) in youth has raised concerns, particularly because of a consequent increase in the use of psychotropic medications with adverse side effects. After observing the development of those youth into adulthood, clinicians and researchers have questioned the notion of expanding the diagnostic boundaries of BD to encapsulate these youth. METHODS: Our research is aimed at gleaning further information on disruptive mood dysregulation disorder (DMDD) and to observe whether its introduction has affected the rates of BD in children and adolescents...
February 1, 2017: Annals of Clinical Psychiatry: Official Journal of the American Academy of Clinical Psychiatrists
https://www.readbyqxmd.com/read/28202323/cumulative-adverse-childhood-experiences-and-sexual-satisfaction-in-sex-therapy-patients-what-role-for-symptom-complexity
#5
Noémie Bigras, Natacha Godbout, Martine Hébert, Stéphane Sabourin
INTRODUCTION: Patients consulting for sexual difficulties frequently present additional personal or relational disorders and symptoms. This is especially the case when they have experienced cumulative adverse childhood experiences (CACEs), which are associated with symptom complexity. CACEs refer to the extent to which an individual has experienced an accumulation of different types of adverse childhood experiences including sexual, physical, and psychological abuse; neglect; exposure to inter-parental violence; and bullying...
February 12, 2017: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/28196559/the-link-between-childhood-adversity-and-late-life-mental-health-evidence-for-the-influence-of-early-life-experiences-or-illusory-correlations
#6
Tracy D Vannorsdall, Cynthia A Munro
Adverse childhood experiences (ACEs) reflect stressful or traumatic early life events such as abuse, neglect, and significant household challenges. These experiences are increasingly appreciated as factors that exert influence on physical and mental functioning throughout the lifespan. Numerous studies have demonstrated dose-response relationships between the number of ACEs reported and negative health outcomes in adulthood (Anda et al., 2006). At the same time, evidence points to the role of ACEs in the development of heightened biological reactivity to stress that may serve to increase vulnerability to the development of mental and substance use disorders (e...
March 2017: International Psychogeriatrics
https://www.readbyqxmd.com/read/28196230/association-between-the-probability-of-autism-spectrum-disorder-and-normative-sex-related-phenotypic-diversity-in-brain-structure
#7
Christine Ecker, Derek S Andrews, Christina M Gudbrandsen, Andre F Marquand, Cedric E Ginestet, Eileen M Daly, Clodagh M Murphy, Meng-Chuan Lai, Michael V Lombardo, Amber N V Ruigrok, Edward T Bullmore, John Suckling, Steven C R Williams, Simon Baron-Cohen, Michael C Craig, Declan G M Murphy
Importance: Autism spectrum disorder (ASD) is 2 to 5 times more common in male individuals than in female individuals. While the male preponderant prevalence of ASD might partially be explained by sex differences in clinical symptoms, etiological models suggest that the biological male phenotype carries a higher intrinsic risk for ASD than the female phenotype. To our knowledge, this hypothesis has never been tested directly, and the neurobiological mechanisms that modulate ASD risk in male individuals and female individuals remain elusive...
February 8, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/28193515/infliximab-not-associated-with-increased-risk-of-malignancy-or-hemophagocytic-lymphohistiocytosis-in-pediatric-patients-with-inflammatory-bowel-disease
#8
Jeffrey S Hyams, Marla C Dubinsky, Robert N Baldassano, Richard B Colletti, Salvatore Cucchiara, Johanna Escher, William Faubion, John Fell, Benjamin D Gold, Anne Griffiths, Sibylle Koletzko, Subra Kugathasan, James Markowitz, Frank M Ruemmele, Gigi Veereman, Harland Winter, Nicholas Masel, Chu Ri Shin, Kezhen L Tang, Meena Thayu
BACKGROUND AND AIMS: Immunosuppressive therapy for inflammatory bowel disease (IBD) in pediatric patients is thought to increase risk of malignancy and lymphoproliferative disorders, including hemophagocytic lymphohistiocytosis (HLH). We compared unadjusted incidence rates and of malignancy and HLH in pediatric patients with IBD exposed to infliximab compared with patients not exposed to biologics and calculated standardized incidence ratios (SIRs). METHODS: We collected and analyzed data from 5766 participants in a prospective study of long-term outcomes of pediatric patients with IBD (NCT00606346), from 2007 through 30 June 2016...
February 10, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28188687/the-influence-of-sex-and-age-on-prevalence-rates-of-comorbid-conditions-in-autism
#9
Kaustubh Supekar, Tara Iyer, Vinod Menon
Individuals with ASD frequently experience one or more comorbid conditions. Here, we investigate the influence of sex and age-two important, yet understudied factors-on ten common comorbid conditions in ASD, using cross-sectional data from 4790 individuals with ASD and 1,842,575 individuals without ASD. Epilepsy, ADHD, and CNS/cranial anomalies showed exceptionally large proportions in both male (>19%) and female (>15%), children/adolescents with ASD. Notably, these prevalence rates decreased drastically with age in both males and females...
February 11, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28188242/diagnosis-of-endocrine-disease-steroid-hormone-analysis-in-diagnosis-and-treatment-of-dsd-position-paper-of-eu-cost-action-bm-1303-dsdnet
#10
Alexandra Kulle, Nils Krone, Paul-Martin Holterhus, Gerhard Schuler, Ronda Greaves, Anders Juul, Yolanda de Rijke, Michaela Hartmann, Alessandro Saba, Olaf Hiort, Stefan Wudy
Disorders or differences in sex development (DSD) comprise a heterogeneous group of conditions with an atypical sex development. For optimal diagnosis highly specialized laboratory analyses are required across European countries. Working group 3 of EU COST (European Cooperation in Science and Technology) Action BM 1303 "DSDnet" "Harmonisation of Laboratory Assessment" has developed recommendations on laboratory assessment for DSD regarding the use of technologies and analytes to be investigated. This position paper on steroid hormone analysis in diagnosis and treatment of DSD was compiled by a group of specialists in DSD and/or hormonal analysis, either from participating European Countries or international partner countries...
February 10, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28184201/long-term-high-fat-diet-treatment-an-appropriate-approach-to-study-the-sex-specificity-of-the-autonomic-and-cardiovascular-responses-to-obesity-in-mice
#11
Thiago Bruder-Nascimento, Obioma J Ekeledo, Ruchi Anderson, Huy B Le, Eric J Belin de Chantemèle
Obesity-related cardiovascular disease (CVD) involves increased sympathetic activity in men and male animals. Although women exhibit increased visceral fat, metabolic disorders, inflammation and CVD with obesity, whether body weight gain affects autonomic control of cardiovascular function in females remain unknown. Due to the lack of adequate model to mimic the human pathology, this study aimed to develop a murine model, which would allow studying the sex-specificity of the response of the autonomic nervous system to obesity and identifying the origin of potential sex-differences...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28183310/animal-models-of-hyperandrogenism-and-ovarian-morphology-changes-as-features-of-polycystic-ovary-syndrome-a-systematic-review
#12
REVIEW
Larissa Paixão, Ramon B Ramos, Anita Lavarda, Debora M Morsh, Poli Mara Spritzer
Polycystic ovary syndrome (PCOS) is a common endocrine disorder, affecting 9-18% of women in reproductive age that causes hyperandrogenism and infertility due to dysfunctional follicular maturation and anovulation. The etiology of PCOS is still poorly known, and information from experimental animal models may help improve current understanding of the mechanisms of PCOS initiation and development. Therefore, we conducted a systematic review of currently available methods for simulation of PCOS in experimental models, focusing on two main endocrine traits: ovarian morphology changes and circulating levels of sex hormones and gonadotropins...
February 10, 2017: Reproductive Biology and Endocrinology: RB&E
https://www.readbyqxmd.com/read/28179817/the-placenta-and-neurodevelopment-sex-differences-in-prenatal-vulnerability
#13
Tracy L Bale
Prenatal insults, such as maternal stress, are associated with an increased neurodevelopmental disease risk and impact males significantly more than females, including increased rates of autism, mental retardation, stuttering, dyslexia, and attention deficit/hyperactivity disorder (ADHD). Sex differences in the placenta, which begin with sex chromosomes, are likely to produce sex-specific transplacental signals to the developing brain. Our studies and others have identified X-linked genes that are expressed at higher levels in the female placenta...
December 2016: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/28179814/prenatal-stress-immune-programming-of-sex-differences-in-comorbidity-of-depression-and-obesity-metabolic-syndrome
#14
Jill M Goldstein, Laura Holsen, Grace Huang, Bradley D Hammond, Tamarra James-Todd, Sara Cherkerzian, Taben M Hale, Robert J Handa
Major depressive disorder (MDD) is the number one cause of disability worldwide and is comorbid with many chronic diseases, including obesity/metabolic syndrome (MetS). Women have twice as much risk for MDD and comorbidity with obesity/MetS as men, although pathways for understanding this association remain unclear. On the basis of clinical and preclinical studies, we argue that prenatal maternal stress (ie, excess glucocorticoid expression and associated immune responses) that occurs during the sexual differentiation of the fetal brain has sex-dependent effects on brain development within highly sexually dimorphic regions that regulate mood, stress, metabolic function, the autonomic nervous system, and the vasculature...
December 2016: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/28179808/sex-differences-in-the-developing-brain-as-a-source-of-inherent-risk
#15
Margaret M McCarthy
Brain development diverges in males and females in response to androgen production by the fetal testis. This sexual differentiation of the brain occurs during a sensitive window and induces enduring neuroanatomical and physiological changes that profoundly impact behavior. What we know about the contribution of sex chromosomes is still emerging, highlighting the need to integrate multiple factors into understanding sex differences, including the importance of context. The cellular mechanisms are best modeled in rodents and have provided both unifying principles and surprising specifics...
December 2016: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/28179807/sex-influences-in-neurological-disorders-case-studies-and-perspectives
#16
Janine Austin Clayton
Beginning in the late 1980s and early 1990s, scientists and the public alike recognized that, for too long, women had been underrepresented in clinical trials. While much progress was made in the following decades, preclinical research still often ignores sex as a fundamental biological variable. Many neurological disorders, including multiple sclerosis and migraine, show strong sex differences in incidence and disease manifestation. In this commentary, we highlight case studies of neurological disorders affecting men and women to demonstrate the need for more such studies...
December 2016: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/28179806/the-role-of-sex-and-gender-in-neuropsychiatric-disorders
#17
Florence Thibaut
The prevalence, age of onset, and clinical symptoms of many neuropsychiatric diseases substantially differ between males and females. Factors influencing the relationships between brain development and function and sex or gender may help us understand the differences between males and females in terms of risk or resilience factors in brain diseases.
December 2016: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/28178330/comparative-study-of-extrapolative-factors-linked-with-oxidative-injury-and-anti-inflammatory-status-in-chronic-kidney-disease-patients-experiencing-cardiovascular-distress
#18
Mahmood Rasool, Muhammad Abdul Basit Ashraf, Arif Malik, Sulayman Waquar, Shahida Aziz Khan, Mahmood Husain Qazi, Waseem Ahmad, Muhammad Asif, Sami Ullah Khan, Ahmad Zaheer, Muther Mansoor Qaisrani, Abdul Rehman Khan, Aamir Iqbal, Amir Raza, Saima Iram, Kashif Kamran, Asim Iqbal, Mohammad Zahid Mustafa, Hani Choudhry, Mazin A Zamzami, Wesam H Abdulaal, Mohammad Sarwar Jamal
BACKGROUND: Chronic kidney disease (CKD) is a group of heterogeneous abnormalities affecting the function and structure of the kidney and mostly further proceeds to cardiovascular damage prior to end stage renal disease (ESRD). The oxidative insult and inflammatory mediators have some undefined role in CKD and cardiovascular complications. It is therefore, aimed at to pin point the predictive factors in the development of cardiovascular disorder in patients with chronic kidney disease...
2017: PloS One
https://www.readbyqxmd.com/read/28176347/explaining-the-sex-difference-in-dyslexia
#19
Anne B Arnett, Bruce F Pennington, Robin L Peterson, Erik G Willcutt, John C DeFries, Richard K Olson
BACKGROUND: Males are diagnosed with dyslexia more frequently than females, even in epidemiological samples. This may be explained by greater variance in males' reading performance. METHODS: We expand on previous research by rigorously testing the variance difference theory, and testing for mediation of the sex difference by cognitive correlates. We developed an analytic framework that can be applied to group differences in any psychiatric disorder. RESULTS: Males' overrepresentation in the low performance tail of the reading distribution was accounted for by mean and variance differences across sex...
February 8, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28170427/long-term-psychological-outcomes-of-flood-survivors-of-hard-hit-areas-of-the-1998-dongting-lake-flood-in-china-prevalence-and-risk-factors
#20
Wenjie Dai, Atipatsa C Kaminga, Hongzhuan Tan, Jieru Wang, Zhiwei Lai, Xin Wu, Aizhong Liu
BACKGROUND: Although numerous studies have indicated that exposure to natural disasters may increase survivors' risk of post-traumatic stress disorder (PTSD) and anxiety, studies focusing on the long-term psychological outcomes of flood survivors are limited. Thus, this study aimed to estimate the prevalence of PTSD and anxiety among flood survivors 17 years after the 1998 Dongting Lake flood and to identify the risk factors for PTSD and anxiety. METHODS: This cross-sectional study was conducted in December 2015, 17 years after the 1998 Dongting Lake flood...
2017: PloS One
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