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Disorder of sex development

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https://www.readbyqxmd.com/read/28821644/calpain-dependent-degradation-of-nucleoporins-contributes-to-motor-neuron-death-in-a-mouse-model-of-chronic-excitotoxicity
#1
Kaori Sugiyama, Tomomi Aida, Masatoshi Nomura, Ryoichi Takayanagi, Hanns U Zeilhofer, Kohichi Tanaka
Glutamate-mediated excitotoxicity induces neuronal death by altering various intracellular signaling pathways and is implicated as a common pathogenic pathway in many neurodegenerative diseases. In the case of motor neuron disease, there is significant evidence to suggest that overactivation of AMPA receptors due to deficiencies in the expression and function of glial glutamate transporter GLT1 and GLAST plays an important role in the mechanisms of neuronal death. However, a causal role for glial glutamate transporter dysfunction in motor neuron death remains unknown...
August 16, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28821302/participation-of-adults-with-disorders-differences-of-sex-development-dsd-in-the-clinical-study-dsd-life-design-methodology-recruitment-data-quality-and-study-population
#2
Robert Röhle, Katharina Gehrmann, Maria Szarras-Czapnik, Hedi Claahsen-van der Grinten, Catherine Pienkowski, Claire Bouvattier, Peggy Cohen-Kettenis, Anna Nordenström, Ute Thyen, Birgit Köhler
BACKGROUND: dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD). This study focuses on various rare genetic conditions characterized by impaired gonadal or adrenal functionality. METHODS/DESIGN: The study aims to assess quality of life (QoL) as a measure of psychosocial adaptation, psychosexual and mental health aspects as major outcomes. Health status and functioning, medical and surgical therapies, participants' views on health care, psychological and social support, sociodemographic factors and their interrelations will be investigated as factors associated with the outcomes...
August 18, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28820075/t-regulatory-cell-subsets-in-children-with-type-1-diabetes-mellitus-relation-to-control-of-the-disease
#3
Mabrouk Ghonaim, Rawhia El-Edel, Wafaa Abo El Fotoh, Samar Kamal Eldein, Samar Salman
BACKGROUND: Type 1 diabetes mellitus described as a chronic metabolic disorder characterized by aggressive immune β-cell destruction. There are numbers of varied immune mechanisms for sustaining self-tolerance in opposition to the autoimmune disorders. A recessive tolerance accomplished by thymic gland via a negative assortment of different clones while a dominant tolerance accomplished by the regulatory T cells (Treg) in the periphery. Treg (CD4+CD25+FOXP3+) are subsets of T cells which have an essential role in maintaining tolerance...
August 17, 2017: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/28817734/treatment-gap-and-barriers-for-mental-health-care-a-cross-sectional-community-survey-in-nepal
#4
Nagendra P Luitel, Mark J D Jordans, Brandon A Kohrt, Sujit D Rathod, Ivan H Komproe
CONTEXT: There is limited research on the gap between the burden of mental disorders and treatment use in low- and middle-income countries. OBJECTIVES: The aim of this study was to assess the treatment gap among adults with depressive disorder (DD) and alcohol use disorder (AUD) and to examine possible barriers to initiation and continuation of mental health treatment in Nepal. METHODS: A three-stage sampling technique was used in the study to select 1,983 adults from 10 Village Development Committees (VDCs) of Chitwan district...
2017: PloS One
https://www.readbyqxmd.com/read/28816587/dna-methylation-independent-growth-restriction-and-altered-developmental-programming-in-a-mouse-model-of-preconception-male-alcohol-exposure
#5
Richard C Chang, William M Skiles, S Chronister Sarah, Haiqing Wang, Gabrielle I Sutton, Yudhishtar S Bedi, Matthew Snyder, Charles R Long, Michael C Golding
The preconception environment is a significant modifier of dysgenesis and the development of environmentally-induced disease. To date, Fetal Alcohol Spectrum Disorders (FASDs) have been exclusively associated with maternal exposures, yet emerging evidence suggests male-inherited alterations in the developmental program of sperm may be relevant to the growth-restriction phenotypes of this condition. Using a mouse model of voluntary consumption, we find chronic preconception male ethanol exposure associates with fetal growth restriction, decreased placental efficiency, abnormalities in cholesterol trafficking, sex-specific alterations in the genetic pathways regulating hepatic fibrosis, and disruptions in the regulation of imprinted genes...
August 17, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28814899/irritable-bowel-symptoms-and-the-development-of-common-mental-disorders-and-functional-somatic-syndromes-identified-in-secondary-care-a-long-term-population-based-study
#6
Chalotte Heinsvig Poulsen, Lene Falgaard Eplov, Carsten Hjorthøj, Marie Eliasen, Sine Skovbjerg, Thomas Meinertz Dantoft, Andreas Schröder, Torben Jørgensen
OBJECTIVE: Irritable bowel syndrome (IBS) is associated with mental vulnerability, and half of patients report comorbid somatic and mental symptoms. We aimed to investigate the relationship between an IBS symptom continuum and the subsequent development of common mental disorders (CMDs) and functional somatic syndromes (FSSs). METHODS AND STUDY DESIGN: A longitudinal population-based study comprising two 5-year follow-up studies, Dan-MONICA 1 (1982-1987) and Inter99 (1999-2004), recruited from the western part of Copenhagen County...
2017: Clinical Epidemiology
https://www.readbyqxmd.com/read/28814778/in-vivo-and-in-vitro-sex-differences-in-the-dendritic-morphology-of-developing-murine-hippocampal-and-cortical-neurons
#7
Kimberly P Keil, Sunjay Sethi, Machelle D Wilson, Hao Chen, Pamela J Lein
Altered dendritic morphology is common in neurodevelopmental disorders (NDDs), many of which show sex biases in prevalence, onset and/or severity. However, whether dendritic morphology varies as a function of sex in juvenile mice or primary neuronal cell cultures is largely unknown even though both are widely used models for studying NDDs. To address this gap, we quantified dendritic morphology in CA1 pyramidal hippocampal and adjacent somatosensory pyramidal cortical neurons from male and female postnatal day (P)28 C57BL/6J mice...
August 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28814383/high-resolution-accurate-mass-hram-mass-spectrometry-urine-steroid-profiling-in-the-diagnosis-of-adrenal-disorders
#8
Jolaine M Hines, Irina Bancos, Cristian Bancos, Raman D Singh, Aditya V Avula, William F Young, Stefan K Grebe, Ravinder J Singh
BACKGROUND: Steroid profiling is a promising diagnostic tool for those with adrenal tumors, Cushing syndrome (CS), and disorders of steroidogenesis. Our objective was to develop a multiple-steroid assay using liquid-chromatography, high-resolution, accurate-mass mass spectrometry (HRAM LC-MS) and to validate the assay in patients with various adrenal disorders. METHODS: We collected 24-h urine samples from 114 controls and 71 patients with adrenal diseases. An HRAM LC-MS method was validated for quantitative analysis of 26 steroid metabolites in hydrolyzed urine samples...
August 16, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28809934/long-term-exposure-to-air-pollution-and-the-incidence-of-parkinson-s-disease-a-nested-case-control-study
#9
Chiu-Ying Chen, Hui-Jung Hung, Kuang-Hsi Chang, Chung Y Hsu, Chih-Hsin Muo, Chon-Haw Tsai, Trong-Neng Wu
BACKGROUND: Previous studies revealed that chronic exposure to air pollution can significantly increase the risk of the development of Parkinson's disease (PD), but this relationship is inconclusive as large-scale prospective studies are limited and the results are inconsistent. Therefore, the purpose of this study was to ascertain the adverse health effects of air pollution exposure in a nationwide population using a longitudinal approach. MATERIALS AND METHODS: We conducted a nested case-control study using the National Health Insurance Research Dataset (NHIRD), which consisted of 1,000,000 beneficiaries in the National Health Insurance Program (NHI) in the year 2000 and their medical records from 1995 to 2013 and using public data on air pollution concentrations from monitoring stations across Taiwan released from the Environmental Protection Administration to identify people with ages ≥ 40 years living in areas with monitoring stations during 1995-1999 as study subjects...
2017: PloS One
https://www.readbyqxmd.com/read/28807754/transgenerational-effects-of-early-environmental-insults-on-aging-and-disease-incidence
#10
REVIEW
Mirela Ambeskovic, Tessa J Roseboom, Gerlinde A S Metz
Adverse early life experiences are major influences on developmental trajectories with potentially life-long consequences. Prenatal or early postnatal exposure to stress, undernutrition or environmental toxicants may reprogram brain development and increase risk of behavioural and neurological disorders later in life. Not only experience within a single lifetime, but also ancestral experience affects health trajectories and chances of successful aging. The central mechanism in transgenerational programming of a disease may the formation of epigenetic memory...
August 11, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28805432/strain-dependent-sex-differences-in-a-long-term-forced-swim-paradigm
#11
José Colom-Lapetina, Sabrina L Begley, Megan E Johnson, Kristina J Bean, Whitney N Kuwamoto, Rebecca M Shansky
Women are twice as likely as men to suffer from trauma- and stressor-related disorders. The development of improved therapeutic interventions is contingent upon a more complete grasp of both the neural and behavioral dynamics of the stress response in females. The rodent forced swim test (FST) is a valuable animal model for exploring the neurobiological mechanisms responsible for selection of active and passive responses to inescapable stressors, but it is often neglected in 2-day FST studies is the dissociation of innate (Day 1) versus learned (Day 2) coping responses...
August 14, 2017: Behavioral Neuroscience
https://www.readbyqxmd.com/read/28802900/adolescent-chronic-variable-social-stress-influences-exploratory-behavior-and-nicotine-responses-in-male-but-not-female-balb-cj-mice
#12
M J Caruso, D E Reiss, J I Caulfield, J L Thomas, A N Baker, S A Cavigelli, H M Kamens
Anxiety disorders and nicotine use are significant contributors to global morbidity and mortality as independent and comorbid diseases. Early-life stress, potentially via stress-induced hypothalamic-pituitary-adrenal axis (HPA) dysregulation, can exacerbate both. However, little is known about the factors that predispose individuals to the development of both anxiety disorders and nicotine use. Here, we examined the relationship between anxiety-like behaviors and nicotine responses following adolescent stress...
August 9, 2017: Brain Research Bulletin
https://www.readbyqxmd.com/read/28801847/assessment-of-functioning-and-disability-in-patients-with-schizophrenia-using-the-who-disability-assessment-schedule-2-0-in-a-large-scale-database
#13
Ruey Chen, Tsan-Hon Liou, Kwang-Hwa Chang, Chia-Feng Yen, Hua-Fang Liao, Wen-Chou Chi, Kuei-Ru Chou
Schizophrenia is a common mental disorder characterized by deficits in multiple domains of functioning. This study is arguably the first of its kind in Taiwan to examine, in a multifaceted and objective manner, the disability of patients with schizophrenia and the factors affecting it. A cross-sectional design was adopted to gather data from 24,299 patients with schizophrenia who were listed in the Taiwan Databank of Persons with Disabilities. The level of disability in these patients was measured using the World Health Organization Disability Assessment Schedule 2...
August 11, 2017: European Archives of Psychiatry and Clinical Neuroscience
https://www.readbyqxmd.com/read/28799838/vitamin-d-receptor-gene-foki-polymorphism-in-egyptian-children-and-adolescents-with-sle-a-case-control-study
#14
A A Imam, H E Ibrahim, M A A Farghaly, U M Alkholy, H H Gawish, N Abdalmonem, A M Sherif, Y F Ali, M E Hamed, N M Waked, M M Fathy, A M Khalil, M A Noah, M S Hegab, B R Ibrahim, R M Nabil, L A Fattah
Background Childhood-onset systemic lupus erythematosus (cSLE) is a lifelong autoimmune disorder. The vitamin D receptor (VDR) gene is a potential candidate gene for cSLE susceptibility. In this study, we aimed to investigate the FokI polymorphism in the VDR gene in Egyptian children and adolescents with SLE, to determine whether this polymorphism could be a genetic marker for cSLE susceptibility or disease activity and we also measured the serum level of 25-hydroxyvitamin D [25(OH) D] to assess its relation to such polymorphism...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28799289/prenatal-exposure-to-fever-is-associated-with-autism-spectrum-disorder-in-the-boston-birth-cohort
#15
Martha Brucato, Christine Ladd-Acosta, Mengying Li, Deanna Caruso, Xiumei Hong, Jamie Kaczaniuk, Elizabeth A Stuart, M Daniele Fallin, Xiaobin Wang
Autism spectrum disorder (ASD) is phenotypically and etiologically heterogeneous, with evidence for genetic and environmental contributions to disease risk. Research has focused on the prenatal period as a time where environmental exposures are likely to influence risk for ASD. Epidemiological studies have shown significant associations between prenatal exposure to maternal immune activation (MIA), caused by infections and fever, and ASD. However, due to differences in study design and exposure measurements no consistent patterns have emerged revealing specific times or type of MIA exposure that are most important to ASD risk...
August 11, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28798882/evolution-of-orofacial-symptoms-and-disease-progression-in-idiopathic-parkinson-s-disease-longitudinal-data-from-the-j%C3%A3-nk%C3%A3-ping-parkinson-registry
#16
Seyed-Mohammad Fereshtehnejad, Örjan Skogar, Johan Lökk
BACKGROUND: Orofacial symptoms are common in Parkinson's disease (PD) both as initial manifestations and late markers of disease complications. We aimed to investigate the evolution of orofacial manifestations and their prognostic value throughout PD progression. METHODS: Data was obtained from "Jönköping Parkinson Registry" database on routine care visits of 314 people with idiopathic PD in southern Sweden. Information on baseline symptomatology, orofacial features, UPDRS, and medications was recorded at baseline and during each follow-up visit within an average of 4...
2017: Parkinson's Disease
https://www.readbyqxmd.com/read/28795229/spatial-characteristics-of-jaw-movements-during-chewing-in-children-with-cerebral-palsy-a-pilot-study
#17
Ignatius S B Nip, Erin M Wilson, Lucia Kearney
This study compared jaw motion between children with cerebral palsy (CP) and their typically-developing (TD) peers during chewing. The jaw movements of 11 children with spastic CP (GMFCS levels II-V) all of whom were exclusively oral feeders with no reported clinical issues with feeding [mean age = 7.49 (2.30) years; 7 males, 4 females] and 11 age- and sex-matched TD peers [mean age = 7.54 (2.35) years] were recorded using optical motion capture. Participants chewed five trials of three different consistencies, including puree, mechanical soft, and solid...
August 9, 2017: Dysphagia
https://www.readbyqxmd.com/read/28791271/female-with-46-xy-karyotype
#18
Eun Jung Jung, Do Hwa Im, Yong Hee Park, Jung Mi Byun, Young Nam Kim, Dae Hoon Jeong, Moon Su Sung, Ki Tae Kim, Hyo Jung An, Soo Jin Jung, Kyung Bok Lee
Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or disorders of androgen synthesis/action. Prophylactic gonadectomy should be considered in patients with 46, XY DSD because of the increased risk of gonadal malignancy. We report two rare cases of 46, XY DSD, including XY pure gonadal dysgenesis and complete androgen insensitivity syndrome, who underwent a prophylactic gonadectomy...
July 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28789691/sex-specific-differences-in-hepatic-and-plasma-lipid-profiles-in-healthy-cats-pre-and-post-spaying-and-neutering-relationship-with-feline-hepatic-lipidosis
#19
Chiara Valtolina, Arie B Vaandrager, Robert P Favier, Maidina Tuohetahuntila, Anne Kummeling, Isabelle Jeusette, Jan Rothuizen, Joris H Robben
BACKGROUND: A link between lipid metabolism and disease has been recognized in cats. Since hepatic lipidosis is a frequent disorder in cats, the aim of the current study was to evaluate liver and plasma lipid dimorphism in healthy cats and the effects of gonadectomy on lipid profiling. From six female and six male cats plasma and liver lipid profiles before and after spaying/neutering were assessed and compared to five cats (three neutered male and two spayed female) diagnosed with hepatic lipidosis...
August 8, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/28782978/smoking-consequences-questionnaire-a-reevaluation-of-the-psychometric-properties-across-two-independent-samples-of-smokers
#20
Lorra Garey, Kara Manning, Charles Jardin, Adam M Leventhal, Matthew Stone, Amanda M Raines, Raina D Pang, Clayton Neighbors, Norman B Schmidt, Michael J Zvolensky
Drug use outcome expectancies are a central construct to psychosocial theories of addictive disorders. In tobacco literature, the Smoking Consequences Questionnaire (SCQ; Brandon & Baker, 1991) is a tool used to assess this construct. Despite its common use, the SCQ has received little psychometric evaluation. In the current report, samples from 2 studies were used to examine the assumed SCQ structure, develop a novel truncated scale, and evaluate the psychometric properties of the novel scale. In Study 1, the 4-factor SCQ structure was examined using data from 343 (32...
August 7, 2017: Psychological Assessment
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