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disorders of sex development

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https://www.readbyqxmd.com/read/28717365/behavioural-problems-in-children-with-46xy-disorders-of-sex-development
#1
Nalini M Selveindran, Syed Zulkifli Syed Zakaria, Muhammad Yazid Jalaludin, Rahmah Rasat
The aim of this study is to determine the behavioural problems of children with 46XY disorders of sex development (DSD) with genital ambiguity and to identify the risk factors that may influence behaviour. The 27 participants (aged 6-18 years) consisted of 21 patients raised as boys and 6 patients raised as girls. Control data were obtained from a representative sibling of each patient who was matched for age and gender. The study tool used was the Child Behaviour Checklist (CBCL), which is a parent-administered questionnaire...
2017: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28715675/resting-state-brain-networks-in-patients-with-parkinson-s-disease-and-impulse-control-disorders
#2
Alessandro Tessitore, Gabriella Santangelo, Rosa De Micco, Alfonso Giordano, Simona Raimo, Marianna Amboni, Fabrizio Esposito, Paolo Barone, Gioacchino Tedeschi, Carmine Vitale
INTRODUCTION: To investigate intrinsic neural networks connectivity changes in Parkinson's disease (PD) patients with and without impulse control disorders (ICD). METHODS: Fifteen patients with PD with ICD (ICD+), 15 patients with PD without ICD (ICD-) and 24 age and sex-matched healthy controls (HC) were enrolled in the study. To identify patients with and without ICD and/or punding, we used the Minnesota Impulsive Disorders Interview (MIDI) and a clinical interview based on diagnostic criteria for each symptom...
June 24, 2017: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/28715127/increased-aggression-and-lack-of-maternal-behavior-in-dio3-deficient-mice-are-associated-with-abnormalities-in-oxytocin-and-vasopressin-systems
#3
J Patrizia Stohn, M Elena Martinez, Maryam Zafer, Daniela López-Espíndola, Lauren M Keyes, Arturo Hernandez
Thyroid hormones regulate many aspects of brain development and function, and alterations in the levels of thyroid hormone action lead to abnormal anxiety- and depression-like behaviors. A complement of factors in the brain function independently of circulating levels of hormone to strictly controlled local thyroid hormone signaling. A critical factor is the type 3 deiodinase (DIO3), which is located in neurons and protects the brain from excessive thyroid hormone. Here we examined whether a local increase in brain thyroid hormone action secondary to DIO3 deficiency is of consequence for social behaviors...
July 17, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28714321/zoophilia-in-an-adolescent-with-high-functioning-autism-from-sri-lanka
#4
Miyuru Chandradasa, Layani Champika
OBJECTIVE: Zoophilia is a rare paraphilic disorder with intense sexual urges involving animals. Autism is characterised by impairments in social communication and repetitive, restricted behaviours (RRB). Reported cases of zoophilia are limited worldwide, and zoophilia in autism is rarer. METHOD: This is a case report describing this unique and relatively unrecognised association in a male adolescent from Sri Lanka. RESULTS: A 17-year-old boy diagnosed with autism has average intelligence and academic capabilities...
July 1, 2017: Australasian Psychiatry: Bulletin of Royal Australian and New Zealand College of Psychiatrists
https://www.readbyqxmd.com/read/28713007/future-fertility-for-individuals-with-differences-of-sex-development-parent-attitudes-and-perspectives-about-decision-making
#5
Emilie K Johnson, Ilina Rosoklija, Angela Shurba, Anthony D'Oro, Elisa J Gordon, Diane Chen, Courtney Finlayson, Jane L Holl
BACKGROUND: Children, adolescents, and young adults (children/youth) with differences/disorders of sex development (DSD) face challenges related to future fertility; this may be due to variations in gonadal development, and, for some, gonadectomy performed to reduce the risk of malignancy. Childhood may be the only time for preservation of biological fertility potential for children/youth who undergo gonadectomy or have early gonadal failure. Fertility-related decision-making for these patients is particularly complicated, due to the need for parental proxy decision-making, potential discordance between gender identity and gonadal type, and uncertain future assisted reproductive technologies...
July 3, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28712943/sex-and-brain-region-specific-effects-of-prenatal-stress-and-lead-exposure-on-permissive-and-repressive-post-translational-histone-modifications-from-embryonic-development-through-adulthood
#6
G Varma, M Sobolewski, D A Cory-Slechta, J S Schneider
Developmental exposure to prenatal stress (PS) and lead (Pb) can affect brain development and adversely influence behavior and cognition. Epigenetic-based gene regulation is crucial for normal brain development and mis-regulation, in any form, can result in neurodevelopmental disorders. Post-translational histone modifications (PTHMs) are an integral and dynamic component of the epigenetic machinery involved in gene regulation. Exposures to Pb and/or PS may alter PTHM profiles, promoting lifelong alterations in brain function observed following Pb±PS exposure...
July 13, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/28710953/partially-distinct-combinations-of-psychological-metabolic-and-inflammatory-risk-factors-are-prospectively-associated-with-the-onset-of-the-subtypes-of-major-depressive-disorder-in-midlife
#7
Dominique A Rudaz, Caroline L Vandeleur, Sirak Z Gebreab, Mehdi Gholam-Rezaee, Marie-Pierre F Strippoli, Aurélie M Lasserre, Jennifer Glaus, Enrique Castelao, Giorgio Pistis, Roland von Känel, Pedro Marques-Vidal, Gérard Waeber, Peter Vollenweider, Martin Preisig
BACKGROUND: Given the well known heterogeneity of Major Depressive Disorder (MDD), dividing this complex disorder into subtypes is likely to be a more promising approach to identify its determinants than to study it as a whole. METHODS: In a prospective population-based cohort study (CoLaus|PsyCoLaus) with 5.5 years of follow-up, 1524 participants without MDD at baseline, aged 35-66 years (mean age 51.4 years, 43.4% females), participated in the physical and psychiatric baseline and the psychiatric follow-up evaluations...
July 8, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28709115/development-and-validation-of-the-korea-dementia-comorbidity-index-kdci-a-nationwide-population-based-cohort-study-from-2002-to-2013
#8
Jae-Hyun Kim, Ki-Bong Yoo, Yunhwan Lee
This study develop and validate a simple and accessible measure of comorbidity, named the Korean Dementia Comorbidity index (KDCI), to assist in predicting the onset of dementia. This study used the National Health Insurance Service-Cohort Sample Database from 2002 to 2013 (n=23,856). Cox proportional hazard model was used to estimate incident dementia (International Classification of Disease, 10th edition (ICD-10) codes: F00-F03, G30, G311), with a hazard ratio higher than 1.05 for each comorbid condition being assigned a score...
June 7, 2017: Archives of Gerontology and Geriatrics
https://www.readbyqxmd.com/read/28708880/pediatric-sleep-apnea-and-depressive-disorders-risk-a-population-based-15-year-retrospective-cohort-study
#9
Chun-Hung Chang, Shaw-Ji Chen, Chieh-Yu Liu
BACKGROUND: Studies have shown a higher risk of depressive disorders in children with sleep apnea than in those without sleep apnea. However, the association between sleep apnea and subsequent depressive disorders in the pediatric population remains undetermined. Thus, this study investigated the risk of depressive disorders among pediatric patients with sleep apnea. METHODS: In this study, the population-based National Health Insurance Research Database of Taiwan was used to identify patients who had first been diagnosed with sleep apnea between 1999 and 2013...
2017: PloS One
https://www.readbyqxmd.com/read/28708305/a-novel-variant-of-dhh-in-a-familial-case-of-46-xy-disorder-of-sex-development-insights-from-molecular-dynamics-simulations
#10
Francoise Paris, Delphine Flatters, Sandrine Caburet, Bérangère Legois, Nadège Servant, Hervé Lefebvre, Charles Sultan, Reiner A Veitia
OBJECTIVE: Disorders of sex development (DSD) are a heterogeneous group of conditions affecting the differentiation and development of the internal and external genitalia. Here, we aimed at identifying the genetic cause of DSD in two 46,XY sisters from a consanguineous family. DESIGN: We performed a whole-exome sequencing of two 46,XY female individuals. Sanger sequencing was used to validate the most likely candidate variant, affecting the desert hedgehog (DHH) gene...
July 14, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28705214/demographic-and-clinical-characteristics-of-carbon-monoxide-poisoning-nationwide-data-between-1999-and-2012-in-taiwan
#11
Chien-Cheng Huang, Chung-Han Ho, Yi-Chen Chen, Hung-Jung Lin, Chien-Chin Hsu, Jhi-Joung Wang, Shih-Bin Su, How-Ran Guo
BACKGROUND: Carbon monoxide poisoning (COP) is not uncommon, but nationwide epidemiological data are limited. We conducted a study in Taiwan to fill the data gaps. METHODS: We used a nationwide poisoning database to study all COP patients in Taiwan diagnosed between 1999 and 2012. We conducted descriptive analyses and compared the differences between the two sexes. In addition, we assessed the trends in suicide and mortality rates from 1999 to 2012. RESULTS: We identified 25,912 COP patients with an almost equal female and male distribution (50...
July 14, 2017: Scandinavian Journal of Trauma, Resuscitation and Emergency Medicine
https://www.readbyqxmd.com/read/28701272/sexually-transmitted-infections-challenges-ahead
#12
REVIEW
Magnus Unemo, Catriona S Bradshaw, Jane S Hocking, Henry J C de Vries, Suzanna C Francis, David Mabey, Jeanne M Marrazzo, Gerard J B Sonder, Jane R Schwebke, Elske Hoornenborg, Rosanna W Peeling, Susan S Philip, Nicola Low, Christopher K Fairley
WHO estimated that nearly 1 million people become infected every day with any of four curable sexually transmitted infections (STIs): chlamydia, gonorrhoea, syphilis, and trichomoniasis. Despite their high global incidence, STIs remain a neglected area of research. In this Commission, we have prioritised five areas that represent particular challenges in STI treatment and control. Chlamydia remains the most commonly diagnosed bacterial STI in high-income countries despite widespread testing recommendations, sensitive and specific non-invasive testing techniques, and cheap effective therapy...
July 7, 2017: Lancet Infectious Diseases
https://www.readbyqxmd.com/read/28700041/association-between-resilience-and-posttraumatic-stress-disorder-among-brazilian-victims-of-urban-violence-a-cross-sectional-case-control-study
#13
Stefania Pigatto Teche, Alcina Juliana Soares Barros, Regis Goulart Rosa, Luciano Pinto Guimarães, Kariny Larissa Cordini, Julia Domingues Goi, Simone Hauck, Lucia Helena Freitas
Introduction: This study investigated the association between resilience and posttraumatic stress disorder (PTSD) among Brazilian victims of urban violence. It also compared defense mechanisms, parental bonding, and childhood trauma between those who developed PTSD and those who did not. Methods: This cross-sectional case-control study included 66 adult subjects exposed to recent urban violence in southern Brazil - 33 with PTSD and 33 healthy controls matched by sex and age - who were administered the Resilience Scale, Defense Style Questionnaire, Parental Bonding Instrument, and Childhood Trauma Questionnaire...
April 2017: Trends in Psychiatry and Psychotherapy
https://www.readbyqxmd.com/read/28696598/-patients-with-variations-of-sex-development-an-example-of-interdisciplinary-care
#14
Franziska Phan-Hug, Cynthia Kraus, Ariane Paoloni-Giacobino, Florence Fellmann, Sophia-Anna Typaldou, François Ansermet, Leonor Alamo, Nadja Eggert, Odile Pelet, Yvan Vial, Vincent Muehlethaler, Jacques Birraux, Pascal Ramseyer, Saira-Christine Renteria, Andrew Dwyer, Nelly Pitteloud, Blaise J Meyrat
The medical, psychological and social aspects of disorders of sex development (DSD) represent a challenge for the management of these patients. However, advances in our understanding of the etiology and genetics of this condition, novel surgical approaches and the growing influence of patient groups as well as wider recognition of ethical issues have helped improve the care of patients with a DSD. Importantly, a multidisciplinary approach involving specialists is crucial for understanding and treating such rare and complex cases...
November 9, 2016: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28695562/medical-use-of-cannabis-in-switzerland-analysis-of-approved-exceptional-licences
#15
Gablu Kilcher, Marcel Zwahlen, Christopher Ritter, Lukas Fenner, Matthias Egger
AIMS OF THE STUDY: In recent years, the Swiss Federal Office of Public Health (FOPH) granted exceptional licenses for the medical use of cannabinoids, typically for 6 months with possible extensions. A systematic review of cannabinoids for medical use commissioned by the FOPH supports the use of cannabinoids for the treatment of chronic pain and spasticity. However, little is known about the patients treated with cannabinoids. We aimed to study medical uses of cannabinoids as part of the FOPH's programme of exceptional licenses...
July 11, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28694040/the-effect-of-anxiety-and-depression-on-the-risk-of-irritable-bowel-syndrome-in-migraine-patients
#16
Mei-Fong Wu, Yu-Wen Yang, Yen-Yu Chen
Bidirectional co-morbidity between migraine and depression has been observed. Mood disorders are associated with an increased risk of both migraine and irritable bowel syndrome (IBS). The aim of this study was to evaluate the risk of developing IBS in patients with migraine and to compare the risks between those with and without anxiety or depression. This research used the data contained in the National Health Insurance Research Database (NHIRD). A total of 2859 subjects with migraine and 5718 age-, sex-, hypertension-, diabetes-, mood disorder-matched controls were identified...
July 7, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28693116/long-term-follow-up-of-a-child-with-klinefelter-syndrome-and-achondroplasia-from-infancy-to-16-years
#17
Jessica D Arditi, Loretta Thomaidis, Helen Frysira, Artemis Doulgeraki, George P Chrousos, Christina Kanaka-Gantenbein
BACKGROUND: Achondroplasia (ACH), an autosomal dominant skeletal dysplasia, occurs in approximately 1:20,000 births. On the other hand, 47,XXY aneuploidy (Klinefelter syndrome [KS]) is the most common sex chromosome disorder, with a prevalence of approximately 1:600 males. To the best of our knowledge, only five cases of patients presenting both ACH and KS have been reported to date in the international literature. However, none of these cases has been longitudinally followed during the entire childhood...
June 23, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28692452/acetabular-protrusio-in-patients-with-osteogenesis-imperfecta-risk-factors-and-progression
#18
Junho Ahn, Erin Carter, Cathleen L Raggio, Daniel W Green
BACKGROUND: Osteogenesis imperfecta (OI) is a genetic disorder commonly associated with osteopenia, osteoporosis, bone fractures, bone deformities, and other clinical features. A frequent radiologic finding with OI is acetabular protrusio (AP). We hypothesized that AP develops in patients with OI over time. In addition, we hypothesized that AP also develops in patients with OI without radiographic evidence of AP on initial examination. METHODS: Medical records and radiographs of 55 patients (109 hips) diagnosed with OI evaluated at our institution were retrospectively reviewed...
July 7, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28690921/risk-factors-for-tremor-in-a-population-of-patients-with-severe-mental-illness-an-18-year-prospective-study-in-a-geographically-representative-sample-the-curacao-extrapyramidal-syndromes-study-xi
#19
Charlotte L Mentzel, P Roberto Bakker, Jim van Os, Marjan Drukker, Michiel R H van den Oever, Glenn E Matroos, Hans W Hoek, Marina Aj Tijssen, Peter N van Harten
BACKGROUND: The aim was to assess incidence, prevalence and risk factors of medication-induced tremor in African-Caribbean patients with severe mental illness (SMI). METHOD: A prospective study of SMI patients receiving care from the only mental health service of the previous Dutch Antilles. Eight clinical assessments, over 18 years, focused on movement disorders, medication use, and resting tremor (RT) and (postural) action tremor (AT). Risk factors were modeled with logistic regression for both current (having) tremor and for tremor at the next time point (developing)...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28690896/late-diagnosis-of-5-%C3%AE-reductase-type-2-deficiency-in-an-adolescent-girl-with-primary-amenorrhoea
#20
Abdul-Rahman A Hummadi, Ayel O Yahya, Awad M Al-Qahtani
Deficiency of the 5-α-reductase enzyme has been found to affect male sexual development. We report an 18-year-old patient who was referred to an endocrinology clinic in Jizan, Saudi Arabia, in April 2014 with primary amenorrhoea, virilisation and a lack of secondary sex characteristics. As female external genitalia were present at birth, she had been raised as a female. Magnetic resonance imaging revealed no uterine or ovarian tissue in the pelvis and the presence of a scrotal sac. She was diagnosed with 5-α-reductase type 2 deficiency, a 46,XY disorder of sexual development...
May 2017: Sultan Qaboos University Medical Journal
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