نتایج جستجو برای: تیوری dsd

تعداد نتایج: 1779  

2017
Yu Mao Shaoji Chen Ru Wang Xuejun Wang Daorui Qin Yunman Tang

BACKGROUND The aim of this study is to review and present the clinical features and process of evaluation and treatment for OT-DSD in a single center in recent years in China. METHODS Sixteen patients with OT-DSD during the past 4 years underwent the evaluation and treatment in a single center. The clinical characteristics and outcomes of surgery were analyzed. RESULTS The surgical age rang...

2015
Malgorzata Marcinkowska-Swojak Izabela Szczerbal Hubert Pausch Joanna Nowacka-Woszuk Krzysztof Flisikowski Stanislaw Dzimira Wojciech Nizanski Rita Payan-Carreira Ruedi Fries Piotr Kozlowski Marek Switonski

Although the disorder of sex development in dogs with female karyotype (XX DSD) is quite common, its molecular basis is still unclear. Among mutations underlying XX DSD in mammals are duplication of a long sequence upstream of the SOX9 gene (RevSex) and duplication of the SOX9 gene (also observed in dogs). We performed a comparative analysis of 16 XX DSD and 30 control female dogs, using FISH a...

2011
S Faisal Ahmed John C Achermann Wiebke Arlt Adam H Balen Gerry Conway Zoe L Edwards Sue Elford Ieuan A Hughes Louise Izatt Nils Krone Harriet L Miles Stuart O'Toole Les Perry Caroline Sanders Margaret Simmonds A Michael Wallace Andrew Watt Debbie Willis

It is paramount that any child or adolescent with a suspected disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD. If there is any doubt, the case should be discussed with the regional team. In most cases, particularly in the case of the newborn, the paediatric endocrinologist within the regional DSD...

2017
Yanjie Fan Xia Zhang Lili Wang Ruifang Wang Zhuo Huang Yu Sun Ruen Yao Xiaodong Huang Jun Ye Lianshu Han Wenjuan Qiu Huiwen Zhang Lili Liang Xuefan Gu Yongguo Yu

Disorders of sexual development (DSD) are estimated to occur in 1 of 4500 births. Since the genetic etiology of DSD is highly heterogeneous, obtaining a definitive molecular diagnosis by single gene test is challenging. Utilizing a high-throughput sequencing upfront is proposed as an efficient approach to aid in the diagnosis. This study aimed to examine the diagnostic yield of next-generation ...

Journal: :IJART 2014
Luca Botturi Chiara Bramani Sara Corbino

(150 characters) This paper presents the Digital Storytelling for Development model (DSD). DSD is a process model for supporting the implementation of digital storytelling activities within the broader framework of social and international development projects. DSD blends storytelling, visual arts and digital media to make a difference for vulnerable children, including children with special ne...

2012
Remko Hersmus Hans Stoop Stefan J. White Stenvert L. S. Drop J. Wolter Oosterhuis Luca Incrocci Katja P. Wolffenbuttel Leendert H. J. Looijenga

Disorders of sex development (DSD) are defined as a congenital condition in which development of chromosomal, gonadal or anatomical sex is atypical. DSD patients with gonadal dysgenesis or hypovirilization, containing part of the Y chromosome (GBY), have an increased risk for malignant type II germ cell tumors (GCTs: seminomas and nonseminomas). DSD may be diagnosed in newborns (e.g., ambiguous...

2011
Jiangping Zeng Wenhua Yao Zhanyu Zhang Wei Li

2. Chinese Academy of Meteorological Sciences, Beijing,10086 Abstract Using OTT-Parsivel Laser Particle Spectrometer at Nanjing in East China, several times heavy rain droplet scale & velocity spectral data aquatic from Mt. Lushan weather stations (elevation 1300meters) Compared to the plain deep convective clouds heavy precipitation, the rain droplet size distribution (DSD) with two elevation ...

2013
Hüseyin Özbey Seref Etker

BACKGROUND Disorders of sexual development (DSD) are congenital conditions in which the development of the chromosomal, gonadal or anatomical sex can be deemed atypical. The external genitalia should appear 'normal' in size and shape from birth, with no question of abnormality, and the individual must receive appropriate social-environmental feedback in the course of the sexual maturation proce...

2004
Ziad S. Haddad Jonathan P. Meagher Stephen L. Durden Eric A. Smith Eastwood Im

The threat of flooding from landfalling tropical cyclones is a function of the local variation in rain rate and rain accumulation. To date, these have been inferred from single-frequency radar reflec-tivity measurements. However, the Tropical Rainfall Measuring Mission experience has confirmed that one of the main difficulties in retrieving rain profiles using a single-frequency radar is the un...

2011
Stefan White Thomas Ohnesorg Amanda Notini Kelly Roeszler Jacqueline Hewitt Hinda Daggag Craig Smith Erin Turbitt Sonja Gustin Jocelyn van den Bergen Denise Miles Patrick Western Valerie Arboleda Valerie Schumacher Lavinia Gordon Katrina Bell Henrik Bengtsson Terry Speed John Hutson Garry Warne Vincent Harley Peter Koopman Eric Vilain Andrew Sinclair

Disorders of sex development (DSD), ranging in severity from mild genital abnormalities to complete sex reversal, represent a major concern for patients and their families. DSD are often due to disruption of the genetic programs that regulate gonad development. Although some genes have been identified in these developmental pathways, the causative mutations have not been identified in more than...

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