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https://www.readbyqxmd.com/read/28094446/deep-sequencing-of-a-candidate-region-harboring-the-sox9-gene-for-the-canine-xx-disorder-of-sex-development
#1
J Nowacka-Woszuk, I Szczerbal, H Pausch, S Hundi, M K Hytönen, A Grzemski, K Flisikowski, H Lohi, M Switonski, M Szydlowski
A disorder of sex development (DSD) in dogs with female sex chromosomes (78, XX), a lack of the SRY gene and the presence of testes or ovotestes is commonly diagnosed in numerous breeds. The molecular background of DSD is not fully recognized but has been linked to the copy number variation in the region harboring the SOX9 gene. We applied a genome-wide association study and targeted next-generation sequencing techniques to compare DSD and normal female dogs. The genome-wide association study did not indicate a significant chromosome region...
January 17, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28075184/elucidation-of-formulation-and-delivery-device-related-effects-on-in-vitro-performance-of-nasal-spray-with-implication-to-rational-product-specification-identification
#2
Jernej Grmaš, Katarina Stare, Dane Božič, Rade Injac, Rok Dreu
BACKGROUND: The aim of this work is to use an experimental design approach to identify and study influential formulation and delivery device properties, which can be controlled by final product manufacturer, to establish design space, within which desired in vitro performance can be reached. METHODS: Combining three factors, viscosity of suspension, nozzle orifice diameter (OD), and shot weight (SW), at three levels resulted in D-optimal experimental design with 20 runs...
January 11, 2017: Journal of Aerosol Medicine and Pulmonary Drug Delivery
https://www.readbyqxmd.com/read/28052197/construction-of-a-spin-component-scaled-dual-hybrid-random-phase-approximation
#3
Pál D Mezei, Gábor I Csonka, Adrienn Ruzsinszky, Mihály Kállay
Recently, we have constructed a dual-hybrid direct random phase approximation method, called dRPA75, and demonstrated its good performance on reaction energies, barrier heights, and noncovalent interactions of main-group elements. However, this method has also shown significant but quite systematic errors in the computed atomization energies. In this paper, we suggest a constrained spin-component scaling formalism for the dRPA75 method (SCS-dRPA75) in order to overcome the large error in the computed atomization energies, preserving the good performance of this method on spin-unpolarized systems at the same time...
January 18, 2017: Journal of Chemical Theory and Computation
https://www.readbyqxmd.com/read/28042102/the-influence-of-cetomacrogol-ointment-processing-on-structure-a-definitive-screening-design
#4
A J P van Heugten, C L Braal, M Versluijs-Helder, H Vromans
Batch-to-batch variability is a challenge for the industrial scale production of ointments. Therefore the current investigation focussed on identifying and understanding critical process parameters (CPPs) for cetomacrogol ointment. This was evaluated using a definitive screening design (DSD) approach in which fourteen batches were produced under predefined and controlled conditions using the following variables: addition of SiO2 nanoparticles, mixing speed, cooling rate, heating temperature, container filling temperature and isothermal mixing at the filling temperature...
December 29, 2016: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28041823/changes-in-levels-of-parental-distress-after-their-child-with-atypical-genitalia-undergoes-genitoplasty
#5
Cortney Wolfe-Christensen, Amy B Wisniewski, Alexandria J Mullins, Kristy J Reyes, Paul Austin, Laurence Baskin, Kerlly Bernabé, Earl Cheng, Allyson Fried, Dominic Frimberger, Denise Galan, Lynette Gonzalez, Saul Greenfield, Thomas Kolon, Bradley Kropp, Yegappan Lakshmanan, Sabrina Meyer, Theresa Meyer, Natalie J Nokoff, Blake Palmer, Dix Poppas, Alethea Paradis, Elizabeth Yerkes, Larry L Mullins
BACKGROUND: The birth of a child with a disorder of sex development (DSD) and atypical genitalia can be traumatizing and isolating for families. Parents of children with DSD are at risk for increased levels of psychological distress, including depression, anxiety, illness uncertainty (IU), post-traumatic stress symptoms (PTSS), and impairments in quality of life (QOL). Our previous report indicated that although the majority of parents of children with atypical genitalia were coping well prior to the child's genitoplasty, approximately 25% of them reported experiencing some type of psychological distress...
December 14, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28033665/challenges-in-the-diagnosis-and-management-of-disorders-of-sex-development
#6
REVIEW
Katherine Kutney, Laura Konczal, Beth Kaminski, Naveen Uli
Disorders of sex development (DSD) represent a spectrum of uncommon but very complex disorders with medical, psychosexual, and family implications for those affected by them. The diagnosis and management of these disorders requires a coordinated team of multiple specialists. Following an international conference in Chicago in 2005, a consensus statement was created and presented, which has resulted in a new paradigm in the nomenclature, classification, and management of DSDs. Since that time, many improvements have been forthcoming, most notably in the area of molecular genetic technologies...
December 2016: Birth Defects Research. Part C, Embryo Today: Reviews
https://www.readbyqxmd.com/read/28033663/review-disorders-of-sex-development-the-evolving-role-of-genomics-in-diagnosis-and-gene-discovery
#7
REVIEW
Brittany Croft, Katie Ayers, Andrew Sinclair, Thomas Ohnesorg
Disorders of Sex Development (DSDs) are a major paediatric concern and are estimated to occur in around 1.7% of all live births (Fausto-Sterling, Sexing the Body: Gender Politics and the Construction of Sexuality, Basic Books, New York, 2000). They are often caused by the breakdown in the complex genetic mechanisms that underlie gonadal development and differentiation. Having a genetic diagnosis can be important for patients with a DSD: it can increase acceptance of a disorder often surrounded by stigma, alter clinical management and it can assist in reproductive planning...
December 2016: Birth Defects Research. Part C, Embryo Today: Reviews
https://www.readbyqxmd.com/read/28033662/sociocultural-aspects-of-disorders-of-sex-development
#8
REVIEW
Annastasia Ediati, Nani Maharani, Agustini Utari
Disorders of sex development (DSD) is a congenital condition in which the development of chromosomes, gonads, hormones, and reproductive structures are atypical. DSD brings with it a psychological impact on the affected individual and their families. The consensus statement on management of DSD strongly advised an integrated and multidisciplinary approach in providing care to the affected individuals. Studies have been conducted focusing on medical intervention, and more recently, there is increasing attention paid to psychological aspects of DSD...
December 2016: Birth Defects Research. Part C, Embryo Today: Reviews
https://www.readbyqxmd.com/read/28033660/wide-spectrum-of-nr5a1-related-phenotypes-in-46-xy-and-46-xx-individuals
#9
REVIEW
Sorahia Domenice, Aline Zamboni Machado, Frederico Moraes Ferreira, Bruno Ferraz-de-Souza, Antonio Marcondes Lerario, Lin Lin, Mirian Yumie Nishi, Nathalia Lisboa Gomes, Thatiana Evelin da Silva, Rosana Barbosa Silva, Rafaela Vieira Correa, Luciana Ribeiro Montenegro, Amanda Narciso, Elaine Maria Frade Costa, John C Achermann, Berenice Bilharinho Mendonca
Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI)...
December 2016: Birth Defects Research. Part C, Embryo Today: Reviews
https://www.readbyqxmd.com/read/28032338/short-report-sf1-and-spleen-development-new-heterozygous-mutation-literature-review-and-consequences-for-nr5a1-mutated-patient-s-management
#10
Cindy Colson, Estelle Aubry, Maryse Cartigny, Amélie-Anne Rémy, Hélène Franquet, Xavier Leroy, Géraldine Kéchid, Christine Lefèvre, Rémi Besson, Martine Cools, Anne Françoise Spinoit, Charles Sultan, Sylvie Manouvrier, Pascal Philibert, Jamal Ghoumid
Steroidogenic factor 1 (encoded by SF1/NR5A1) is a transcription factor with multiple target genes involved in the development and function of multiple steroidogenic and non-steroidogenic tissues. NR5A1 mutations lead to several phenotypes, including sex reversal, spermatogenesis failure, premature ovarian failure and adrenocortical insufficiency. The implication of NR5A1 mutations in spleen development anomalies was recently highlighted. We provide new evidence of this involvement, describing a novel heterozygous nonsense NR5A1 mutation in a 46,XY-DSD with polysplenia female proband and her father, who had hypospadias and asplenia...
December 29, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/28030788/definitive-screening-design-applied-to-electrochemical-degradation-of-chromotrope-2r-with-bdd-anodes
#11
Xiaoming Du, Zhefeng Zhang, Chunyong Zhang, Degang Fu
Here, a novel three-level definitive screening design (DSD) was initially employed to investigate the electrochemical degradation of Chromotrope 2R (C2R) with boron-doped diamond (BDD) anodes. Experiments were performed using a synthetic C2R solution containing five supporting electrolytes (Na2SO4, NaCl, Na3PO4, NaNO3 and Na2CO3). The effects of nine quantitative parameters on C2R removal rate: initial C2R concentration (50-100 mg L(-1)), applied current density (1.29-3.87 mA cm(-2)), Na2SO4 concentration (0-10 mM), NaCl concentration (0-10 mM), Na3PO4 concentration (0-10 mM), NaNO3 concentration (0-10 mM), Na2CO3 concentration (0-10 mM), flow rate (300-500 mL min(-1)) and temperature (10-50 °C), were investigated...
December 21, 2016: Chemosphere
https://www.readbyqxmd.com/read/28030592/a-novel-missense-mutation-224g-t-r75m-in-sry-coding-region-interferes-with-nuclear-import-and-results-in-46-xy-complete-gonadal-dysgenesis
#12
Wufang Fan, Bei Wang, Shanshan He, Tengfei Zhang, Chenxing Yin, Yunping Chen, Shuqi Zheng, Jixia Zhang, Lin Li
SRY-mutation-caused sex reversal is a rare disease and mostly associated with a de novo mutation since the patients with defective SRY is infertile. There are many reports about SRY-mutation associated 46, XY ovarian disorder of sex development (DSD), but few described their molecular mechanism. Here we report a de novo mutation 224G>T (R75M) in SRY associated with a phenotypic female, 46, XY karyotype and dysgerminoma. The wild and mutated SRY were cloned into recombinant plasmid and expressed in cells in vitro, the result showed the mutated SRY is greatly accumulated in cytoplasm while the wild type SRY is mostly localized in nucleus...
2016: PloS One
https://www.readbyqxmd.com/read/28018429/408-cases-of-genital-ambiguity-followed-by-single-multidisciplinary-team-during-23-years-etiologic-diagnosis-and-sex-of-rearing
#13
Georgette Beatriz De Paula, Beatriz Amstalden Barros, Stela Carpini, Bruna Jordan Tincani, Tais Nitsch Mazzola, Mara Sanches Guaragna, Cristiane Santos da Cruz Piveta, Laurione Candido de Oliveira, Juliana Gabriel Ribeiro Andrade, Guilherme Guaragna-Filho, Pedro Perez Barbieri, Nathalia Montibeler Ferreira, Marcio Lopes Miranda, Ezequiel Moreira Gonçalves, Andre Moreno Morcillo, Nilma Lucia Viguetti-Campos, Sofia Helena Valente Lemos-Marini, Roberto Benedito de Paiva Silva, Antonia Paula Marques-de-Faria, Maricilda Palandi De Mello, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior
Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective study during 23 years at outpatient clinic of a referral center. Results. There were 408 cases; 250 (61.3%) were 46,XY and 124 (30.4%) 46,XX and 34 (8.3%) had sex chromosomes abnormalities. 189 (46.3%) had 46,XY testicular DSD, 105 (25.7%) 46,XX ovarian DSD, 95 (23.3%) disorders of gonadal development (DGD), and 19 (4.7%) complex malformations...
2016: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28008861/delayed-diagnosis-of-a-17-hydroxylase-17-20-lyase-deficient-case-presented-with-46-xy-female-low-normal-potassium-can-alert-clinician
#14
Emine Çamtosun, Zeynep Şıklar, Serdar Ceylaner, Pınar Kocaay, Merih Berberoğlu
17-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive defect in adrenal and gonadal steroidogenesis, causes absence of secondary sexual characteristics frequently associated with hypertension and hyperkalemia. Here we report a 46, XY case, who had normal potassium levels and without hypertension. Here we present a 2,5 years old female admitted with female external genitalia and inguinal swelling. Pathology of biopsy revealed that this gonad is a testis. Karyotype was 46, XY. She had no hypertension and no hypokalemia...
December 23, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28005277/health-related-quality-of-life-and-psychological-wellbeing-in-adults-with-differences-of-sex-development-dsd
#15
Elena Bennecke, Ute Thyen, Annette Grüters, Anke Lux, Birgit Köhler
OBJECTIVE: Rare congenital conditions with incongruence of chromosomal, gonadal, and phenotypic sex have been classified as Differences/ Disorders of Sex Development (DSD). Included in DSD are conditions with diverse genetic aetiology, varying levels of prenatal androgen effects, phenotypes, and subsequently, different medical treatments. Quality of life (QoL) and psychological wellbeing are indicators of successful psychosocial adaptation to the conditions. We sought to investigate the HRQOL and psychological wellbeing in this population...
December 22, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27998513/sexual-orientation-and-medical-history-among-iranian-people-with-complete-androgen-insensitivity-syndrome-and-congenital-adrenal-hyperplasia
#16
Behzad S Khorashad, Ghasem M Roshan, Alistair G Reid, Zahra Aghili, Mehran Hiradfar, Mozhgan Afkhamizadeh, Ali Talaei, Azadeh Aarabi, Nosrat Ghaemi, Negin Taghehchian, Hedieh Saberi, Nazanin Farahi, Mohammad Reza Abbaszadegan
OBJECTIVE: To report sexual orientation, relationship status and medical history of Iranian people with Differences of Sex Development (DSD) who were raised female. METHODS: Our participants consisted of nineteen 46,XY individuals with Complete Androgen Insensitivity Syndrome (CAIS) and eighteen 46,XX individuals with Congenital Adrenal Hyperplasia (CAH) who were raised as females and older than 13years. As well as their relationship status and detailed medical history, an expert psychiatrist assessed their sexual orientation by a semi-structured psychiatric interview with them and, where applicable, their parents...
January 2017: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/27995942/improvement-in-detrusor-sphincter-dyssynergia-by-bladder-wall-injection-of-replication-defective-herpes-simplex-virus-vector-mediated-gene-delivery-of-kynurenine-aminotransferase-ii-in-spinal-cord-injury-rats
#17
Z Wang, L Liao
STUDY DESIGN: An experimental study. OBJECTIVES: To investigate the effect of replication-defective herpes simplex virus (HSV) vectors encoding the kynurenine aminotransferase II (HSVrd-KATII) gene on detrusor-sphincter dyssynergia (DSD) in spinal cord injury (SCI) rats. SETTING: Beijing, China. METHODS: Sprague-Dawley rats (240-265 g) were spinalized with complete transaction at the T10 level of the spinal cord. The rats were randomly divided into the following three groups: sham group (n=12, with normal saline); HSVrd group (n=12, with HSVrd) and HSVrd-KATII group (n=12, with HSVrd-KATII)...
December 20, 2016: Spinal Cord
https://www.readbyqxmd.com/read/27990598/disorders-of-sex-development-dsd-not-only-babies-with-ambiguous-genitalia-a-practical-guide-for-surgeons
#18
Irene Kearsey, John M Hutson
INTRODUCTION AND METHODS: In this review, we describe the common clinical scenarios that may be present to a paediatric surgeon when a patient has a disorder of sex development (DSD). Our aim was to prepare surgeons so that they can respond with correct approaches to diagnose and manage the given situations. RESULTS: DSD present in three distinct clinical situations: in the neonate with some abnormality of the external genitalia; in the child undergoing surgical treatment for inguinal hernia or during open or laparoscopic orchidopexy or during hypospadias correction; and at or after puberty, which may be precocious or delayed or in an adolescent girl with masculinisation at puberty...
December 18, 2016: Pediatric Surgery International
https://www.readbyqxmd.com/read/27989796/altered-sox9-genital-tubercle-enhancer-region-in-hypospadias
#19
REVIEW
Rajini Sreenivasan, Christopher T Gordon, Sabina Benko, Robb de Iongh, Stefan Bagheri-Fam, Stanislas Lyonnet, Vincent Harley
Human mutations in the SOX9 gene or its regulatory region can disrupt testicular development, leading to disorders of sex development (DSDs). Our previous work involving the genomic analysis of isolated DSD patients revealed a 78kb minimal sex determining region (RevSex) far upstream of SOX9 that was duplicated in 46,XX and deleted in 46,XY DSDs. It was postulated that RevSex contains a gonadal enhancer. However, the most highly conserved sub-region within RevSex, called SR4, was neither responsive to sex determining factors in vitro nor active in the gonads of transgenic mice, suggesting that SR4 may not be functioning as a testicular enhancer...
October 28, 2016: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/27974129/-clinical-evaluation-and-management-of-neonates-with-disorder-of-sexual-development
#20
Hui Liu, Xiao-Mei Tong
Disorder of sexual development or disorder of sex differentiation (DSD) refers to the inconsistency between karyotype and gonad phenotype and/or gonad anatomy in neonates and is manifested as the difficulty in identifying neonates' sex. According to the karyotype, DSD is classified as 46,XY DSD, 46,XX DSD, and sex chromosome DSD. A combination of detailed medical history, physical examination, and laboratory and imaging examinations is required for the diagnosis and comprehensive assessment of neonatal DSD and the determination of potential causes in clinical practice...
December 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
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