keyword
MENU ▼
Read by QxMD icon Read
search

DSD

keyword
https://www.readbyqxmd.com/read/28923284/fertility-outcome-and-information-on-fertility-issues-in-individuals-with-different-forms-of-disorders-of-sex-development-findings-from-the-dsd-life-study
#1
Jolanta Słowikowska-Hilczer, Angelica Lindén Hirschberg, Hedi Claahsen-van der Grinten, Nicole Reisch, Claire Bouvattier, Ute Thyen, Peggy Cohen Kettenis, Robert Roehle, Birgit Köhler, Anna Nordenström
OBJECTIVE: To investigate fertility outcome in individuals with different forms of disorders of sex development (DSD), if assisted reproductive technology (ART) was used, and the patients' satisfaction with the information they had received. DESIGN: A cross-sectional multicenter study, dsd-LIFE. SETTING: Not applicable. PATIENT(S): A total of 1,040 patients aged ≥16 years with different DSD diagnoses participated...
September 15, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28920018/neonatal-sex-assignment-in-disorders-of-sex-development-a-philosophical-introspection
#2
REVIEW
V Raveenthiran
Management of ambiguous genitalia is highly controversial. This condition was known previously as intersex and presently as disorders of sex development (DSD). There is no consensus regarding the choice, timing and method of sex assignment in neonates with DSD. Consensus conferences could not unify the views of various stakeholders and third parties. This article philosophically examines the nature and origin of such controversies. Misconception, bias and conflicting priorities are identified as the three cardinal sources of controversies...
July 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28917585/total-urogenital-sinus-mobilization-for-ambiguous-genitalia
#3
Vinicius Menezes Jesus, Francisco Buriti, Rodrigo Lessa, Maria Betânia Toralles, Luciana Barros Oliveira, Ubirajara Barroso
INTRODUCTION: Genital ambiguity is a very common phenomenon in disorders of sex development (DSD). According to the Chicago Consensus 2006, feminizing genitoplasty, when indicated, should be performed in the most virilized cases (Prader III to V). Advances in the knowledge of genital anatomy in DSD have enabled the development and improvement of various surgical techniques. Mobilization of the urogenital sinus (MUS), first described by Peña, has become incorporated by most surgeons. However, the proximity of the urethral sphincter prompts concern over urinary incontinence, especially for full mobilization of the urogenital sinus...
August 24, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28904831/sagittal-normal-limits-of-lumbosacral-spine-in-a-large-adult-population-a-quantitative-magnetic-resonance-imaging-analysis
#4
Antonio Pierro, Savino Cilla, Giuseppina Maselli, Eleonora Cucci, Matteo Ciuffreda, Giuseppina Sallustio
OBJECTIVES: The objective of this study was to determine, using magnetic resonance imaging (MRI) of the lumbosacral spine from L1 to S1, the values of the normal sagittal diameter of the spinal canal (SCD), sagittal diameter of the dural sac (DSD), and the normal values of dural sac ratio (DSR) in a large nonsymptomatic adult population and to discriminate whether a vertebral canal is pathological or nonpathological for dural ectasia and/or stenosis. MATERIALS AND METHODS: Six hundred and four patients were prospectively enrolled...
2017: Journal of Clinical Imaging Science
https://www.readbyqxmd.com/read/28888337/recommendations-for-the-establishment-of-disorders-differences-of-sex-development-interdisciplinary-care-clinics-for-youth
#5
Dana M Bakula, Christina M Sharkey, Cortney Wolfe-Christensen, Alexandria J Mullins, Jonathan Meyer, Larry L Mullins, Amy B Wisniewski
PURPOSE: Provide recommendations for the development of an interdisciplinary care (IDC) clinic for the treatment of youth with disorders/differences of sex development (DSD). DSD consist of a group of complex congenital medical disorders in which the development of chromosomal, gonadal, or anatomical sex is atypical. Youth with DSD require care from multiple specialized healthcare disciplines, including several medical specialties, surgery, nursing, and mental health. METHOD: Recommendations are based on an interdisciplinary care clinic model that allows for a team of relevant professionals who share knowledge, ideas, and responsibility of care...
September 7, 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/28870521/clinical-aspects-and-biomarkers-of-alzheimer-s-disease-in-down-syndrome
#6
REVIEW
Panagiotis Zis, Andre Strydom
Alzheimer's disease (AD) may affect in excess of 90% of individuals with Down syndrome (DS) after age 60, due to duplication of the APP gene in trisomy of chromosome 21, with neuropathology that is comparable to Sporadic AD and Familial AD (FAD). Previous literature suggested some unique features in clinical presentation of dementia in DS (DSd), which might be due to diagnostic difficulties, or represent a real difference compared to SAD or FAD. We review current knowledge on clinical diagnosis and presentation of dementia in DS in comparison with FAD due to APP mutations and APP duplication...
September 1, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28867417/increased-psychiatric-morbidity-in-women-with-complete-androgen-insensitivity-syndrome-or-complete-gonadal-dysgenesis
#7
Hedvig Engberg, Anna Strandqvist, Anna Nordenström, Agnieszka Butwicka, Agneta Nordenskjöld, Angelica Lindén Hirschberg, Louise Frisén
OBJECTIVE: Knowledge concerning mental health outcomes is important to optimize the health of individuals with disorders or differences of sex development (DSD). Thus, the aim of this study was to estimate if the prevalence of psychiatric morbidity in adult women diagnosed with complete androgen insensitivity syndrome (CAIS) or complete gonadal dysgenesis (46,XY GD and 46,XX GD) differs from that in women with premature ovarian insufficiency (POI) or age-matched population controls. METHODS: This cross-sectional study was conducted at the Karolinska University Hospital, Stockholm, Sweden, and included 33 women with different DSDs: 20 CAIS, 6 46,XY GD, 7 46,XX GD, 21 women with POI and 61 population-derived controls...
August 8, 2017: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/28859874/biochemical-analysis-of-four-missense-mutations-in-the-hsd17b3-gene-associated-with-46-xy-disorders-of-sex-development-in-egyptian-patients
#8
Roger T Engeli, Maria Tsachaki, Heba A Hassan, Christoph P Sager, Mona L Essawi, Yehia Z Gad, Alaa K Kamel, Inas Mazen, Alex Odermatt
BACKGROUND: Mutations in the HSD17B3 gene are associated with a 46,XY disorder of sexual development (46,XY DSD) as a result of low testosterone production during embryogenesis. AIM: To elucidate the molecular basis of the disorder by chemically analyzing four missense mutations in HSD17B3 (T54A, M164T, L194P, G289S) from Egyptian patients with 46,XY DSD. METHODS: Expression plasmids for wild-type 17β-hydroxysteroid hydrogenase type 3 (17β-HSD3) and mutant enzymes generated by site-directed mutagenesis were transiently transfected into human HEK-293 cells...
September 2017: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/28854582/incidence-prevalence-diagnostic-delay-morbidity-mortality-and-socioeconomic-status-in-males-with-46-xx-disorders-of-sex-development-a-nationwide-study
#9
A Berglund, T H Johannsen, K Stochholm, L Aksglaede, J Fedder, M H Viuff, K M Main, C H Gravholt
STUDY QUESTION: What is the epidemiology and trajectory of health and socioeconomic status in males with 46,XX disorders of sex development (DSD)? SUMMARY ANSWER: 46,XX DSD males had an increased overall morbidity compared to male background population controls, and the socioeconomic status was inferior on outcome parameters such as education and long-term income. WHAT IS KNOWN ALREADY: 46,XX DSD males are rare and estimates of prevalence and incidence are limited...
August 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28845623/human-sex-development-from-basic-science-to-clinical-practice-and-back
#10
Anna Biason-Lauber
The process of sexual differentiation is central for the reproduction of almost all metazoan, and therefore for the maintenance of multicellular organisms. In sex development, we can distinguish two different processes¸ sex determination, the l decision directing the undifferentiated embryo into a sexually dimorphic individual. In mammals, sex determination equals gonadal development. The second process, sex differentiation, takes place once factors produced by the gonads determine the development of the phenotypic sex...
September 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28825592/the-evaluation-of-cases-with-y-chromosome-gonadal-dysgenesis-clinical-experience-for-18-years
#11
Merih Berberoğlu, Zeynep Şıklar
OBJECTIVE: Y-chromosome gonadal dysgenesis (GD) is a rare subgroup of disorders of sexual development (DSD) which results from underdeveloped testis, which may consist heterogenous symptoms. They are phenotypically classified into 2 groups as complete and partial; while karyotypic description was as 46,XY GD and 45,X/46,XY GD. METHODS: Thirty eight cases were followed-up between 1998 and 2016. The age of admission were within 0 to 17,16 decimal years. Clinical and laboratory findings as well as follow-up characteristics of cases were evaluated retrospectively from the patient reports...
August 21, 2017: Journal of Clinical Research in Pediatric Endocrinology
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
#12
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/28815954/diaphanospondylodysostosis-and-ischiospinal-dysostosis-evidence-for-one-disorder-with-variable-expression-in-a-patient-who-has-survived-to-age-9-years
#13
Janet M Legare, Kristin Seaborg, Jennifer Laffin, Philip F Giampietro
Diaphanospondylodysostosis (DSD) and ischiospinal dysostosis (ISD) are both rare skeletal dysplasias consisting of abnormal axial skeletal development but normal appendicular skeletal development. Both disorders recently have been found to result from mutations in the BMPER gene. We report a patient with one deletion and one mutation of the BMPER gene who has features most consistent with DSD but who has survived to age 9 years. Survival suggests that DSD and ISD reflect a spectrum of severity of one disease process...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28813621/improvement-of-an-in-vitro-model-to-assess-delivered-dose-and-particle-size-for-a-vibrating-mesh-nebulizer-during-mechanical-ventilation
#14
Nani Kadrichu, Derek Daniher
BACKGROUND: In an in vitro model of mechanical ventilation with gravity-dependent filter position we observed artificially high delivered doses resulting from liquid droplet collection and precipitation of aerosolized drug. We sequentially modified the model to obtain accurate reproducible measurements of delivered dose and particle size at endotracheal tube exit. METHODS: Stepwise changes in the model included (1) altering the endotracheal tube position to a gravity-independent position, (2) adding fluid traps, (3) humidifying air near the test lung, and (4) simplifying test lung and filters...
August 16, 2017: Journal of Aerosol Medicine and Pulmonary Drug Delivery
https://www.readbyqxmd.com/read/28791271/female-with-46-xy-karyotype
#15
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/28774765/novel-mutations-of-hsd17b3-in-three-chinese-patients-with-46-xy-disorders-of-sex-development
#16
Bingqing Yu, Zhaoxiang Liu, Jiangfeng Mao, Xi Wang, Junjie Zheng, Shuyu Xiong, Mingxuan Cui, Wanlu Ma, Qibin Huang, Hongli Xu, Bingkun Huang, Min Nie, Xueyan Wu
17β-Hydroxysteroid dehydrogenase type 3 (17β-HSD3) converts the inactive Δ4-androstenedione (A) to testosterone (T). Its deficiency is the most common testosterone biosynthesis defect that results in 46,XY Disorders Of Sex Development (DSD). However, the disease is difficult to distinguish from other 46,XY DSD for similar clinical phenotypes. Therefore, genetic testing provides good criteria for the diagnosis of the disease. In this study, HSD17B3 gene was examined in 3 unrelated Chinese patients with 46,XY DSD...
October 2017: Steroids
https://www.readbyqxmd.com/read/28763759/metabolomics-analysis-of-danggui-sini-decoction-on-treatment-of-collagen-induced-arthritis-in-rats
#17
Bang Cheng, Hua Zheng, Fang Wu, Jinxia Wu, Xuwen Liu, Chaoling Tang, Shiyin Lu, Zhaoni Chen, Fangming Song, Junxiang Ruan, Hongye Zhang, Hui Song, Wei Liu, Hongwei Guo, Yonghong Liang, Zhiheng Su
Rheumatoid arthritis (RA) is a chronic autoimmune disorder characterized by persistent joint inflammation leading to bone and cartilage damage and even disability. However, the pathogenesis of RA is multi-factorial and to a large degree, remains unknown. Danggui Sini decoction (DSD), a traditional Chinese medicine (TCM) formula, has been widely used as a remedy for rheumatoid arthritis (RA) in recent years. In our study, (1)H-nuclear magnetic resonance ((1)H NMR) based metabolomics analysis of 7 potential biomarkers, including taurine (1), urea (2), betaine (3), pyruvate (4), hippurate (5), succinate (6) and acetone (7) was performed to investigate the progression of RA and assess the efficacy of DSD in collagen-induced arthritis (CIA) rats...
July 24, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/28758411/contemporary-demographic-treatment-and-geographic-distribution-patterns-for-disorders-of-sex-development
#18
Rohit Tejwani, Ruiyang Jiang, Steven Wolf, Deanna W Adkins, Brian J Young, Muhammad Alkazemi, John S Wiener, Gina-Maria Pomann, J Todd Purves, Jonathan C Routh
This study aimed to describe the demographic characteristics, hospital utilizations, patterns of inpatient surgical management, and the overall state/regional variation in surgery rate among patients with disorders of sex development (DSD). We analyzed the Nationwide Inpatient Sample from 2001 to 2012 for patients younger than 21 years. DSD-related diagnoses and procedures were identified via International Classification of Diseases, Ninth Revision (ICD-9) codes. We identified a total of 43,968 DSD-related admissions...
July 1, 2017: Clinical Pediatrics
https://www.readbyqxmd.com/read/28752770/disorders-of-sex-development-mothers-experiences-of-support
#19
Clare Chivers, Jan Burns, Martha Deiros Collado
BACKGROUND: An increasing body of research has sought to determine the impact of Disorders of Sex Development (DSD) on the family of the affected child. Little is currently understood about the support needs of the family and how well these needs are met. METHODS: Interpretive Phenomenological Analysis was used to analyse semi-structured interviews with eight mothers of children with DSD about their experiences of support. RESULTS: Four master themes emerged which encapsulated (a) the stages in their child's development when mothers most needed support, (b) the importance of developing an understanding of the child's condition, (c) the lack of acknowledgement of the emotional needs of the parent and (d) the importance of having close and trusted networks for support...
July 1, 2017: Clinical Child Psychology and Psychiatry
https://www.readbyqxmd.com/read/28743543/a-recurrent-synonymous-mutation-in-the-human-androgen-receptor-gene-causing-complete-androgen-insensitivity-syndrome
#20
Rafael Loch Batista, Andresa di Santi Rodrigues, Mirian Yumie Nishi, Nathalia Lisboa Rosa Almeida Gomes, José Antonio Diniz Faria, Daniela Rodrigues de Moraes, Luciani Renata Carvalho, Elaine Maria Costa Frade, Sorahia Domenice, Berenice Bilharinho de Mendonca
Androgen insensitivity syndrome (AIS) is the most common cause of 46,XY disorders of sex development (46,XY DSD). This syndrome is an X-linked inheritance disease and it is caused by mutations in the human androgen receptor (AR) gene. Non-synonymous point AR mutations are frequently described in this disease, including in the complete phenotype. We present a novel synonymous mutation in the human AR gene (c.1530C > T) in four 46,XY patients from two unrelated families associated with complete androgen insensitivity syndrome (CAIS)...
July 22, 2017: Journal of Steroid Biochemistry and Molecular Biology
keyword
keyword
3240
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"