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disorders of sex development

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https://www.readbyqxmd.com/read/29782383/genetic-testing-of-xy-newborns-with-a-suspected-disorder-of-sex-development
#1
Malika Alimussina, Louise Ann Diver, Ruth McGowan, Syed Faisal Ahmed
PURPOSE OF REVIEW: The current review focuses on the neonatal presentation of disorders of sex development, summarize the current approach to the evaluation of newborns and describes recent advances in understanding of underlying genetic aetiology of these conditions. RECENT FINDINGS: Several possible candidate genes as well as other adverse environmental factors have been described as contributing to several clinical subgroups of 46,XY DSDs. Moreover, registry-based studies showed that infants with suspected DSD may have extragenital anomalies and in 46,XY cases, being small for gestational age (SGA), cardiac and neurological malformations are the commonest concomitant conditions...
May 17, 2018: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29781654/is-fatigue-a-disease-specific-or-generic-symptom-in-chronic-medical-conditions
#2
Juliane Menting, Cees J Tack, Gijs Bleijenberg, Rogier Donders, Hal A Droogleever Fortuyn, Jaap Fransen, Martine M Goedendorp, Joke S Kalkman, Riet Strik-Albers, Nens van Alfen, Sieberen P van der Werf, Nicol C Voermans, Baziel G van Engelen, Hans Knoop
OBJECTIVE: Severe fatigue is highly prevalent in various chronic diseases. Disease-specific fatigue models have been developed, but it is possible that fatigue-related factors in these models are similar across diseases. The purpose of the current study was to determine the amount of variance in fatigue severity explained by: (a) the specific disease, (b) factors associated with fatigue across different chronic diseases (transdiagnostic factors), and (c) the interactions between these factors and specific diseases...
June 2018: Health Psychology: Official Journal of the Division of Health Psychology, American Psychological Association
https://www.readbyqxmd.com/read/29781628/early-life-stress-impairs-contextual-threat-expression-in-female-but-not-male-mice
#3
Gabriela Manzano-Nieves, Mizan Gaillard, Meghan Gallo, Kevin G Bath
Early life stress (ELS) is associated with altered processing of threat signals, and increased lifetime risk of anxiety and affective pathology, disorders that disproportionately affect females. We tested the impact of a limited bedding paradigm of ELS (from P4-11) on contextual threat learning, context memory, footshock sensitivity, and anxietylike behavior, in adult male and female mice. To examine contextual threat learning, mice conditioned by context/footshock association were tested 24 hr later for the context memory...
May 21, 2018: Behavioral Neuroscience
https://www.readbyqxmd.com/read/29780358/sex-and-gender-differences-in-prevention-of-type-2-diabetes
#4
REVIEW
Jürgen Harreiter, Alexandra Kautzky-Willer
Lifestyle intervention programs are effective in the prevention of type 2 diabetes mellitus (T2DM) in high risk populations. However, most studies only give limited information about the influence of sex and/or gender effectiveness of these interventions. So far, similar outcome was reported for diabetes progression and weight loss. Nevertheless, long-term data on cardiovascular outcome are sparse but favoring women regarding all-cause and cardiovascular mortality. In both men and women, sex hormone imbalances and reproductive disorders are associated with a higher risk of T2DM development...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29778854/proposed-stages-of-myocardial-phenotype-development-in-fabry-disease
#5
Sabrina Nordin, Rebecca Kozor, Katia Medina-Menacho, Amna Abdel-Gadir, Shanat Baig, Daniel M Sado, Ilaria Lobascio, Elaine Murphy, Robin H Lachmann, Atul Mehta, Nicola C Edwards, Uma Ramaswami, Richard P Steeds, Derralynn Hughes, James C Moon
OBJECTIVES: The authors sought to explore the Fabry myocardium in relation to storage, age, sex, structure, function, electrocardiogram changes, blood biomarkers, and inflammation/fibrosis. BACKGROUND: Fabry disease (FD) is a rare, x-linked lysosomal storage disorder. Mortality is mainly cardiovascular with men exhibiting cardiac symptoms earlier than women. By cardiovascular magnetic resonance, native T1 is low in FD because of sphingolipid accumulation. METHODS: A prospective, observational study of 182 FD (167 adults, 15 children; mean age 42 ± 17 years, 37% male) who underwent cardiovascular magnetic resonance including native T1, late gadolinium enhancement (LGE), and extracellular volume fraction, 12-lead electrocardiogram, and blood biomarkers (troponin and N-terminal pro-brain natriuretic peptide)...
May 11, 2018: JACC. Cardiovascular Imaging
https://www.readbyqxmd.com/read/29778275/quantifying-the-effects-of-16p11-2-copy-number-variants-on-brain-structure-a-multisite-genetic-first-study
#6
Sandra Martin-Brevet, Borja Rodríguez-Herreros, Jared A Nielsen, Clara Moreau, Claudia Modenato, Anne M Maillard, Aurélie Pain, Sonia Richetin, Aia E Jønch, Abid Y Qureshi, Nicole R Zürcher, Philippe Conus, Wendy K Chung, Elliott H Sherr, John E Spiro, Ferath Kherif, Jacques S Beckmann, Nouchine Hadjikhani, Alexandre Reymond, Randy L Buckner, Bogdan Draganski, Sébastien Jacquemont
BACKGROUND: 16p11.2 breakpoint 4 to 5 copy number variants (CNVs) increase the risk for developing autism spectrum disorder, schizophrenia, and language and cognitive impairment. In this multisite study, we aimed to quantify the effect of 16p11.2 CNVs on brain structure. METHODS: Using voxel- and surface-based brain morphometric methods, we analyzed structural magnetic resonance imaging collected at seven sites from 78 individuals with a deletion, 71 individuals with a duplication, and 212 individuals without a CNV...
March 27, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29777472/circumscribed-interests-and-attention-in-autism-the-role-of-biological-sex
#7
Clare Harrop, Desiree Jones, Shuting Zheng, Sallie Nowell, Brian A Boyd, Noah Sasson
Recent studies suggest that circumscribed interests (CI) in females with Autism Spectrum Disorder (ASD) may align more closely with interests reported in typical female development than those typically reported for ASD males. We used eye-tracking to quantify attention to arrays containing combinations of male, female and neutral images in elementary-aged males and females with and without ASD. A number of condition × sex effects emerged, with both groups attending to images that corresponded with interests typically associated with their biological sex...
May 18, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29777319/what-does-sex-have-to-do-with-it-the-role-of-sex-as-a-biological-variable-in-the-development-of-posttraumatic-stress-disorder
#8
REVIEW
Sara L Kornfield, Liisa Hantsoo, C Neill Epperson
PURPOSE OF REVIEW: This review highlights the neurobiological aspects of sex differences in posttraumatic stress disorder (PTSD), specifically focusing on the physiological responses to trauma and presents evidence supporting hormone and neurosteroid/peptide differences from both preclinical and clinical research. RECENT FINDINGS: While others have suggested that trauma type or acute emotional reaction are responsible for women's disproportionate risk to PTSD, neither of these explanations fully accounts for the sex differences in PTSD...
May 18, 2018: Current Psychiatry Reports
https://www.readbyqxmd.com/read/29775752/the-genetics-and-molecular-pathogenesis-of-systemic-lupus-erythematosus-sle-in-populations-of-different-ancestry
#9
REVIEW
George N Goulielmos, Maria I Zervou, Vassilis M Vazgiourakis, Yogita Ghodke-Puranik, Alexandros Garyfallos, Timothy B Niewold
Systemic lupus erythematosus (SLE; OMIM 152700) is a highly heterogeneous disorder, characterized by differences in autoantibody profile, serum cytokines, and a multi-system involvement commonly affecting the skin, renal, musculoskeletal, and hematopoetic systems clinical manifestations involving. Disease features range from mild manifestations, such as rash or arthritis, to life-threatening end-organ manifestations, such as glomerulonephritis or thrombosis, and it is difficult to predict which manifestations will affect a given patient...
May 15, 2018: Gene
https://www.readbyqxmd.com/read/29774002/on-the-drive-specificity-of-freudian-drives-for-the-generation-of-seeking-activities-the-importance-of-the-underestimated-imperative-motor-factor
#10
Michael Kirsch, Wolfgang Mertens
Doubters of Freud's theory of drives frequently mentioned that his approach is outdated and therefore cannot be useful for solving current problems in patients with mental disorders. At present, many scientists believe that affects rather than drives are of utmost importance for the emotional life and the theoretical framework of affective neuroscience, developed by Panksepp, strongly underpinned this view. Panksepp evaluated seven so-called command systems and the SEEKING system is therein of central importance...
2018: Frontiers in Psychology
https://www.readbyqxmd.com/read/29773953/mir-34a-mediated-regulation-of-xist-in-female-cells-under-inflammation
#11
Botros B Shenoda, Yuzhen Tian, Guillermo M Alexander, Enrique Aradillas-Lopez, Robert J Schwartzman, Seena K Ajit
Background: Evidence is overwhelming for sex differences in pain, with women representing the majority of the chronic pain patient population. There is a need to explore novel avenues to elucidate this sex bias in the development of chronic inflammatory pain conditions. Complex regional pain syndrome (CRPS) is a chronic neuropathic pain disorder, and the incidence of CRPS is greater in women than in men by ~4:1. Since neurogenic inflammation is a key feature of CRPS, dysregulation of inflammatory responses can be a factor in predisposing women to chronic pain...
2018: Journal of Pain Research
https://www.readbyqxmd.com/read/29773754/a-critical-neurodevelopmental-role-for-l-type-voltage-gated-calcium-channels-in-neurite-extension-and-radial-migration
#12
Satoshi Kamijo, Yuichiro Ishii, Shin-Ichiro Horigane, Kanzo Suzuki, Masamichi Ohkura, Junichi Nakai, Hajime Fujii, Sayaka Takemoto-Kimura, Haruhiko Bito
In spite of many association studies linking gene polymorphisms and mutations of L-type Voltage-Gated Ca2+ Channels (VGCC) in neurodevelopmental disorders, such as autism and schizophrenia, specific L-type VGCC roles during brain development remain unclear. Yet, calcium signaling has been shown to be essential for neurodevelopmental processes such as sculpting of neurites, functional wiring and fine tuning of growing networks. To bridge this gap, we performed submembraneous calcium imaging using a membrane-tethered genetically-encoded calcium indicator (GECI) Lck-G-CaMP7...
May 17, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29771299/at-the-crossroads-of-fate-somatic-cell-lineage-specification-in-the-fetal-gonad
#13
Emmi Rotgers, Anne Jørgensen, Humphrey Hung-Chang Yao
The reproductive endocrine systems are vastly different between male and female. This sexual dimorphism of endocrine milieu originates from sex-specific differentiation of the somatic cells in the gonads during fetal life. The majority of gonadal somatic cells arise from the adrenogonadal primordium. After separation of the adrenal and gonadal primordia, the gonadal somatic cells initiate sex-specific differentiation during gonadal sex determination with the specification of the supporting cell lineages: Sertoli cells in the testis vs...
May 15, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29769693/caring-for-individuals-with-a-difference-of-sex-development-dsd-a-consensus-statement
#14
REVIEW
Martine Cools, Anna Nordenström, Ralitsa Robeva, Joanne Hall, Puck Westerveld, Christa Flück, Birgit Köhler, Marta Berra, Alexander Springer, Katinka Schweizer, Vickie Pasterski
The term differences of sex development (DSDs; also known as disorders of sex development) refers to a heterogeneous group of congenital conditions affecting human sex determination and differentiation. Several reports highlighting suboptimal physical and psychosexual outcomes in individuals who have a DSD led to a radical revision of nomenclature and management a decade ago. Whereas the resulting recommendations for holistic, multidisciplinary care seem to have been implemented rapidly in specialized paediatric services around the world, adolescents often experience difficulties in finding access to expert adult care and gradually or abruptly cease medical follow-up...
May 16, 2018: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/29769265/reciprocal-negative-regulation-between-lmx1a-and-lmo4-is-required-for-inner-ear-formation
#15
Yanhan Huang, Jennifer Hill, Andrew Yatteau, Loksum Wong, Tao Jiang, Jelena Petrovic, Lin Gan, Lijin Dong, Doris K Wu
LIM-domain containing transcription factors (LIM-TFs) are conserved factors important for embryogenesis. The specificity of these factors in transcriptional regulation is conferred by the complexes they form with other proteins such as LIM-domain-binding (Ldb) proteins and LIM-domain only (LMO) proteins. Unlike LIM-TF, these proteins do not bind DNA directly. LMO are negative regulators of LIM-TF and they function by competing with LIM-TFs for binding to Ldbs. Although the LIM-TF Lmx1a is expressed in the developing mouse hindbrain, which provides many of the extrinsic signals for inner ear formation, conditional knockout embryos of both sexes show that the inner ear source of Lmx1a is the major contributor of ear patterning...
May 16, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29768021/diminished-heart-rate-complexity-in-adolescent-girls-a-sign-of-vulnerability-to-anxiety-disorders
#16
Aina Fiol-Veny, Alejandro De la Torre-Luque, Maria Balle, Xavier Bornas
BACKGROUND AND OBJECTIVES: Diminished heart rate variability has been found to be associated with high anxiety symptomatology. Since adolescence is the period of onset for many anxiety disorders, this study aimed to determine sex- and anxiety-related differences in heart rate variability and complexity in adolescents. METHODS: We created four groups according to sex and anxiety symptomatology: high-anxiety girls (n = 24) and boys (n = 25), and low-anxiety girls (n = 22) and boys (n = 24) and recorded their cardiac function while they performed regular school activities...
May 15, 2018: Anxiety, Stress, and Coping
https://www.readbyqxmd.com/read/29764575/-association-between-overweight-obesity-in-parents-and-autism-spectrum-disorders-in-offspring
#17
Ting Qiu, Bing-Bing Guo, Li-Zhen Wang, Heng Zhang, Yin Xu, Xin-Ye Jiang
OBJECTIVE: To study the association between overweight/obesity in parents before maternal pregnancy and the development of autism spectrum disorders (ASD) in offspring. METHODS: A total of 36 children who were diagnosed with ASD (ASD group) and 72 normal children matched for sex and age (control group) were enrolled. A questionnaire survey was performed to collect the general information, including body height and body weight of parents before maternal pregnancy and maternal weight gain during pregnancy...
May 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29764524/a-qualitative-examination-of-the-factors-related-to-the-development-and-maintenance-of-insomnia-in-cancer-survivors
#18
Sheila N Garland, Frances K Barg, Brigid Cakouros, Philip Gehrman, Katherine N DuHamel, Jun J Mao
OBJECTIVE: Insomnia is underrecognized and inadequately managed, with close to 60% of cancer survivors experiencing insomnia at some point in the treatment trajectory. The objective of this study was to further understand predisposing, precipitating, and perpetuating factors in the development and maintenance of insomnia in cancer survivors. METHOD: A heterogeneous sample of 63 patients who had completed active treatment was recruited. Participants were required to have a score >7 on the Insomnia Severity Index and meet the diagnostic criteria for insomnia disorder...
May 16, 2018: Palliative & Supportive Care
https://www.readbyqxmd.com/read/29763783/sex-differences-in-the-acth-and-cortisol-response-to-pharmacological-probes-are-stressor-specific-and-occur-regardless-of-alcohol-dependence-history
#19
Robert M Anthenelli, Jaimee L Heffner, Thomas J Blom, Belinda E Daniel, Benjamin S McKenna, Gary S Wand
Women and men differ in their risk for developing stress-related conditions such as alcohol use and anxiety disorders and there are gender differences in the typical sequence in which these disorders co-occur. However, the neural systems underlying these gender-biased psychopathologies and clinical course modifiers in humans are poorly understood and may involve both central and peripheral mechanisms regulating the limbic-hypothalamic-pituitary-adrenal axis. In the present randomized, double blind, placebo-controlled, triple-dummy crossover study, we juxtaposed a centrally-acting, citalopram (2 mg/unit BMI) neuroendocrine stimulation test with a peripherally-acting, dexamethasone (Dex) (1...
May 4, 2018: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/29761343/role-of-exogenous-progesterone-in-the-treatment-of-men-and-women-with-substance-use-disorders-a-narrative-review
#20
REVIEW
MacKenzie R Peltier, Mehmet Sofuoglu
Substance use disorders (SUDs) remain problematic as many individuals are untreated or do not benefit from the currently available interventions. Thus, there is an urgent need to develop novel pharmacological interventions to treat SUDs. Evidence suggests that the female sex hormone, progesterone, attenuates the craving for and the euphoric effects of drugs of abuse. Research to date has demonstrated that progesterone may modulate responses to drugs of abuse and may have utility as a novel treatment for SUDs...
May 14, 2018: CNS Drugs
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