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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
#1
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/29667715/gender-differences-in-social-anxiety-disorder
#2
Maya Asher, Idan M Aderka
OBJECTIVE:  Despite the ample literature on gender differences in anxiety and mood disorders, gender differences in social anxiety disorder (SAD) have received little empirical attention. The aim of the present study is to examine gender differences in 12-months prevalence, patterns of comorbidity, clinical presentation, subjective distress and functional impairment, age of onset, and treatment seeking, and discuss their clinical implications. METHOD: We used data from the National Comorbidity Survey-Replication (NCS-R; n = 652, 63...
April 18, 2018: Journal of Clinical Psychology
https://www.readbyqxmd.com/read/29667298/distinct-chromatin-structures-at-the-monoamine-oxidase-a-maoa-promoter-correlate-with-allele-specific-expression-in-sh-sy5y-cells
#3
M Manca, V Pessoa, P Myers, A Pickles, J Hill, H Sharp, C Murgatroyd, V J Bubb, J P Quinn
Monoamine oxidase-A (MAOA) metabolises monoamines and is implicated in the pathophysiology of psychiatric disorders. A polymorphic repetitive DNA domain, termed the uVNTR (upstream variable number tandem repeat), located at the promoter of the MAOA gene is a risk factor for many of these disorders. MAOA is on the X chromosome suggesting gender could play a role in regulation. We analysed MAOA regulation in the human female cell line, SH-SY5Y, which is polymorphic for the uVNTR. This heterozygosity allowed us to correlate allele specific gene expression with allele specific transcription factor binding and epigenetic marks for MAOA...
April 18, 2018: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29666405/mediators-of-the-effects-of-gender-on-uric-acid-nephrolithiasis-a-novel-application-of-structural-equation-modeling
#4
Hao-Wei Chen, Yu-Chen Chen, Frances M Yang, Wen-Jeng Wu, Ching-Chia Li, Yong-Yuan Chang, Yii-Her Chou
Numerous epidemiological studies have shown that male patients with uric acid nephrolithiasis outnumber female patients. To our knowledge, no research exists evaluating the reasons gender affects the development of uric acid nephrolithiasis. We hereby used a novel application of structural equation modeling to analyze the mediators of the effects of gender on uric acid nephrolithiasis. In 1,098 patients with nephrolithiasis between 2012 and 2016, male gender was found to have a statistically significant positive indirect effect on the development of uric acid nephrolithiasis, which was mediated by lower urine pH (estimate: 0...
April 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29665879/maternal-anxiety-depression-and-sleep-disorders-before-and-during-pregnancy-and-preschool-adhd-symptoms-in-the-ninfea-birth-cohort-study
#5
L Vizzini, M Popovic, D Zugna, B Vitiello, M Trevisan, C Pizzi, F Rusconi, L Gagliardi, F Merletti, L Richiardi
AIMS: Maternal mental disorders have been associated with the risk of attention-deficit/hyperactivity disorder (ADHD) in children. Within the context of a mother-child cohort, we examined whether maternal anxiety, depression and sleep disorders are associated with pre-school ADHD symptoms. METHODS: The study included 3634 singletons from the Italian NINFEA (Nascita e INFanzia: gli Effetti dell'Ambiente') cohort. Maternal doctor-diagnosed anxiety, depression and sleep disorders before and during pregnancy were assessed from the questionnaires completed during pregnancy and 6 months after delivery...
April 18, 2018: Epidemiology and Psychiatric Sciences
https://www.readbyqxmd.com/read/29665516/-cool-and-hot-executive-functions-in-suicide-attempters-with-major-depressive-disorder
#6
Ming-Chou Ho, Yi-Chieh Hsu, Mong-Liang Lu, Michael Gossop, Vincent Chin-Hung Chen
RATIONALE: The World Health Organization reports that, by 2030, depression is expected to be the largest contributor to disease burden. Only small proportion of patients with major depressive disorder (MDD) achieves remission and the majority of them do not achieve long-term functional recovery. One of the neuropsychological domains that have been shown to be particularly impaired in depression, is that of executive function (EF). OBJECTIVES: We examined whether the patients with MDD with and without suicide attempts had deteriorated 'cool' EF and 'hot' EF...
April 7, 2018: Journal of Affective Disorders
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
#7
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/29665163/lowered-quality-of-life-in-mood-disorders-is-associated-with-increased-neuro-oxidative-stress-and-basal-thyroid-stimulating-hormone-levels-and-use-of-anticonvulsant-mood-stabilizers
#8
Caroline Sampaio Nunes, Michael Maes, Chutima Roomruangwong, Juliana Brum Moraes, Kamila Landucci Bonifacio, Heber Odebrecht Vargas, Decio Sabbatini Barbosa, George Anderson, Luiz Gustavo Piccoli de Melo, Stoyanov Drozdstoj, Estefania Moreira, André F Carvalho, Sandra Odebrecht Vargas Nunes
RATIONALE, AIMS: Major affective disorders including bipolar disorder (BD) and major depressive disorder (MDD) are associated with impaired health-related quality of life (HRQoL). Oxidative stress and subtle thyroid abnormalities may play a pathophysiological role in both disorders. Thus, the current study was performed to examine whether neuro-oxidative biomarkers and thyroid-stimulating hormone (TSH) levels could predict HRQoL in BD and MDD. METHODS: This cross-sectional study enrolled 68 BD and 37 MDD patients and 66 healthy controls...
April 17, 2018: Journal of Evaluation in Clinical Practice
https://www.readbyqxmd.com/read/29664505/pain-in-children-and-adolescents-hospitalized-in-a-center-of-reference
#9
C Zunino, M Notejane, M Bernadá, L Rodríguez, N Vanoli, M Rojas, L Benech, I Mimbacas
INTRODUCTION: The evaluation and treatment of pain in hospitalized is still an important health pro blem. OBJECTIVE: To know the prevalence, characteristics and approaches to pain management in children and adolescents hospitalized in the Pediatric Hospital of the Pereira Rossell Center (HP-CH- PR), a pediatric reference center in Uruguay. PATIENTS AND METHOD: Cross-sectional study, through survey and review of clinical records on 09/13/16...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29664050/association-between-perceived-stressfulness-of-stressful-life-events-and-the-suicidal-risk-in-chinese-patients-with-major-depressive-disorder
#10
Jing-Yu Lin, Yu Huang, Yun-Ai Su, Xin Yu, Xiao-Zhen Lyu, Qi Liu, Tian-Mei Si
Background: Patients with major depressive disorder (MDD) usually have high risk of suicidality. Few studies have investigated the effects of stressful life events (SLEs) on the risk of suicide in Chinese patients who have developed MDD. This study aimed to investigate the impact of SLEs on suicidal risk in Chinese patients with MDD. Methods: In total, 1029 patients with MDD were included from nine psychiatric hospitals to evaluate the impact of SLEs on suicidal risk...
April 20, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29664049/increased-serum-cystatin-c-in-early-parkinson-s-disease-with-objective-sleep-disturbances
#11
Kang-Ping Xiong, Yong-Ping Dai, Jing Chen, Jin-Min Xu, Yi Wang, Ping Feng, Shou-Jiang You, Chun-Feng Liu
Background: Sleep disturbance is one of the major non-motor symptoms which cause the disability of Parkinson's disease (PD) patients. Cystatin C (CysC) is a more sensitive biomarker than serum creatinine or estimated glomerular filtration rate. Previous studies have reported altered CysC levels in neurodegenerative disorders and sleep disorders. This study aimed to explore the correlations of serum CysC levels and objective sleep disturbances in early PD. Methods: We recruited 106 early PD patients and 146 age- and sex-matched controls...
April 20, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29663010/septo-optic-dysplasia-assessment-of-associated-findings-with-special-attention-to-the-olfactory-sulci-and-tracts
#12
John C Benson, David Nascene, Charles Truwit, Alexander M McKinney
PURPOSE: Septo-optic dysplasia is a congenital disorder consisting of optic nerve hypoplasia and absent septum pellucidum. While associated anomalies have been described, olfactory sulcus and bulb-tract hypoplasia have been scantily reported and was the focus of this study. METHODS: The picture archival and communications system and radiology information system (PACS-RIS) was searched over 15 years for patients with suspected septo-optic dysplasia (n = 41) and cerebral magnetic resonance imaging (MRI)...
April 16, 2018: Clinical Neuroradiology
https://www.readbyqxmd.com/read/29662744/postoperative-complications-associated-with-rhbmp2-use-in-posterior-posterolateral-lumbar-fusion
#13
Nabil Esmail, Zorica Buser, Jeremiah R Cohen, Darrel S Brodke, Hans-Joerg Meisel, Jong-Beom Park, Jim A Youssef, Jeffrey C Wang, S Tim Yoon
Study Design: Retrospective database review. Objective: Posterior/posterolateral lumbar fusion (PLF) is an effective treatment for a variety of spinal disorders; however, variations in surgical technique have different complication profiles. The aim of our study was to quantify the frequency of various complications in patients undergoing PLF with and without human recombinant bone morphogenetic protein 2 (rhBMP2). Methods: We queried the orthopedic subset of the Medicare database (PearlDiver) between 2005 and 2011 for patients undergoing PLF procedures with and without rhBMP2...
April 2018: Global Spine Journal
https://www.readbyqxmd.com/read/29662001/association-between-ambient-temperatures-and-mental-disorder-hospitalizations-in-a-subtropical-city-a-time-series-study-of-hong-kong-special-administrative-region
#14
Emily Y Y Chan, Holly C Y Lam, Suzanne H W So, William B Goggins, Janice Y Ho, Sida Liu, Phoebe P W Chung
Background : Mental disorders have been found to be positively associated with temperature in cool to cold climatic regions but the association in warmer regions is unclear. This study presented the short-term association between temperatures and mental disorder hospitalizations in a subtropical city with a mean annual temperature over 21 °C. Methods : Using Poisson-generalized additive models and distributed-lagged nonlinear models, daily mental disorder hospitalizations between 2002 and 2011 in Hong Kong were regressed on daily mean temperature, relative humidity, and air pollutants, adjusted for seasonal trend, long-term trend, day-of-week, and holiday...
April 14, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29661966/pallidal-deep-brain-stimulation-disrupts-pallidal-beta-oscillations-and-coherence-with-primary-motor-cortex-in-parkinson-s-disease
#15
Doris D Wang, Coralie de Hemptinne, Svjetlana Miocinovic, Jill L Ostrem, Nicholas B Galifianakis, Marta San Luciano, Philip A Starr
In Parkinson's disease (PD), subthalamic nucleus beta band oscillations are decreased by therapeutic deep brain stimulation (DBS) and this has been proposed as important to the mechanism of therapy. The globus pallidus is a common alternative target for PD with similar motor benefits as subthalamic DBS, but effects of pallidal stimulation in PD are not well studied, and effects of pallidal DBS on cortical function in PD are unknown. Here, in 20 PD and 14 isolated dystonia human patients of both genders undergoing pallidal DBS lead implantation, we recorded local field potentials (LFPs) from the globus pallidus and in a subset of these, recorded simultaneous sensorimotor cortex electrocorticography (ECoG) potentials...
April 16, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29661941/mental-health-of-transgender-and-gender-nonconforming-youth-compared-with-their-peers
#16
Tracy A Becerra-Culqui, Yuan Liu, Rebecca Nash, Lee Cromwell, W Dana Flanders, Darios Getahun, Shawn V Giammattei, Enid M Hunkeler, Timothy L Lash, Andrea Millman, Virginia P Quinn, Brandi Robinson, Douglas Roblin, David E Sandberg, Michael J Silverberg, Vin Tangpricha, Michael Goodman
BACKGROUND: Understanding the magnitude of mental health problems, particularly life-threatening ones, experienced by transgender and/or gender nonconforming (TGNC) youth can lead to improved management of these conditions. METHODS: Electronic medical records were used to identify a cohort of 588 transfeminine and 745 transmasculine children (3-9 years old) and adolescents (10-17 years old) enrolled in integrated health care systems in California and Georgia. Ten male and 10 female referent cisgender enrollees were matched to each TGNC individual on year of birth, race and/or ethnicity, study site, and membership year of the index date (first evidence of gender nonconforming status)...
April 16, 2018: Pediatrics
https://www.readbyqxmd.com/read/29661090/are-disease-severity-sleep-related-problems-and-anxiety-associated-with-work-functioning-in-patients-with-obstructive-sleep-apnoea
#17
Vladimira Timkova, Iveta Nagyova, Sijmen A Reijneveld, Ruzena Tkacova, Jitse P van Dijk, Ute Bültmann
PURPOSE: To examine whether Obstructive Sleep Apnoea severity, sleep-related problems, and anxiety are associated with work functioning in Obstructive Sleep Apnoea patients, when controlled for age, gender and type of occupation. To investigate whether anxiety moderates the associations between sleep-related problems and work functioning. MATERIALS AND METHODS: We included 105 Obstructive Sleep Apnoea patients (70% male; mean age 46.62 ± 9.79 years). All patients completed the Pittsburgh Sleep Quality Index, the Epworth Sleepiness Scale, the Beck Anxiety Inventory, and the Work Role Functioning Questionnaire-2...
April 17, 2018: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29660081/data-driven-analysis-of-functional-connectivity-reveals-a-potential-auditory-verbal-hallucination-network
#18
Dustin Scheinost, Fuyuze Tokoglu, Michelle Hampson, Ralph Hoffman, R Todd Constable
Schizophrenia is a severe global health problem, with over half of such patients experiencing auditory verbal hallucinations (AVHs). A better understanding of the neural correlates differentiating patients experiencing AVHs from patients not experiencing AVHs and healthy controls may identify targets that lead to better treatment strategies for AVHs. Employing 2 data-driven, voxel-based measure of functional connectivity, we studied 46 patients with schizophrenia or schizoaffective disorder (28 experiencing AVHs and 18 not experiencing AVHs)...
April 5, 2018: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/29659851/causes-of-death-at-the-university-of-ghana-hospital-in-accra-a-37-year-review-1979-2015
#19
Edward K Sutherland, Gloria A Ansa, Frank Baiden, Enoch N B Quaye, Afua A Amoabeng, Christian Amenuveve
Background: An analysis of the causes of death in developing countries is needed to improve healthcare delivery. The aim of this study was to conduct a descriptive analysis of the causes of death at the University of Ghana Hospital from 1979 to 2015. Methods: Data were extracted from the electronic database of the University of Ghana Hospital. Diseases were grouped into three broad groups of causes of death as per the Global Burden of Disease cause list, with some diseases of epidemiological importance outlined and analysed by age, gender and time in years...
April 5, 2018: International Health
https://www.readbyqxmd.com/read/29659348/evaluation-of-estrogen-and-g-protein-coupled-estrogen-receptor-1-gper-levels-in-drug-na%C3%A3-ve-patients-with-attention-deficit-hyperactivity-disorder-adhd
#20
Nilfer Sahin, Hatice Altun, Ergül Belge Kurutaş, Ebru Fındıklı
Estrogen has a crucial role in the regulation of reproductive and neuroendocrine function and exerts its effects through two classes of receptors, nuclear and membrane estrogen receptors (mERs). G protein-coupled estrogen receptor 1 (GPER) is a member of mERs, and despite limited research on the levels of GPER in patients with psychiatric diseases, a role of GPER in such conditions has been suggested. Here we evaluated serum estrogen and GPER levels in children with attention deficit hyperactivity disorder (ADHD) in relation to their age- and gender-matched healthy controls...
April 16, 2018: Bosnian Journal of Basic Medical Sciences
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