نتایج جستجو برای: urogenital malformations

تعداد نتایج: 21126  

2013
Kei Semba Ken-ichi Yamamura

Caudal regression syndrome (CRS) is a rare congenital disorder in which lumbosacral anomalies are combined with anorectal and urogenital malformations. However, the molecular mechanisms of human CRS are not yet known. Trauma, nutritional problems, toxic agents, and genetics are suggested in the etiology of CRS. To the best of our knowledge, linkage studies of families affected exclusively by CR...

2010
Subhramoy Chaudhury Indranil Chatterjee Samikshan Dutta LalitKumar Vaid Kanchan Mukhopadhyay

BACKGROUND Congenital pouch colon, also known as congenital short colon or "Pouch colon syndrome", is a rare condition that occurs in association with anorectal malformations; colon is either partially or completely replaced by pouch-like dilatation and communicates with the urogenital tract by means of a fistula. This anomaly is exclusively seen in Northern parts of India with only a few cases...

Journal: :Clinical journal of the American Society of Nephrology : CJASN 2015
Anja Lehnhardt Claartje Karnatz Thurid Ahlenstiel-Grunow Kerstin Benz Marcus R Benz Klemens Budde Anja K Büscher Thomas Fehr Markus Feldkötter Norbert Graf Britta Höcker Therese Jungraithmayr Günter Klaus Birgit Koehler Martin Konrad Birgitta Kranz Carmen R Montoya Dominik Müller Thomas J Neuhaus Jun Oh Lars Pape Martin Pohl Brigitte Royer-Pokora Uwe Querfeld Reinhard Schneppenheim Hagen Staude Giuseppina Spartà Kirsten Timmermann Frauke Wilkening Simone Wygoda Carsten Bergmann Markus J Kemper

BACKGROUND AND OBJECTIVES The Wilms tumor suppressor gene 1 (WT1) plays an essential role in urogenital and kidney development. Genotype/phenotype correlations of WT1 mutations with renal function and proteinuria have been observed in world-wide cohorts with nephrotic syndrome or Wilms tumor (WT). This study analyzed mid-European patients with known constitutional heterozygous mutations in WT1,...

Journal: :Archives of Iranian medicine 2017
Yadollah Zahed Pasha Amin Vahedi Mohammad Zamani Reza Alizadeh-Navaei Ermia Zahed Pasha

INTRODUCTION Birth defects are a series of disorders that occur during embryonic life. In Iran, no national situation analysis is available to show the rate of congenital disorders. We aimed to estimate the prevalence of structural birth defects in Iran. METHODS We searched for English studies on PubMed, Scopus and Google Scholar from January 1990 to July 2016. The search for Persian articles...

Mehrdad Mirzarahimi, Peimaneh Ahmadi Rahele Alijahan Sadegh Hazrati

Introduction: Congenital anomalies are the most common cause of disability in developed and developing countries. Costs of hospitalization and treatment of congenital anomalies pose a significant burden to families and societies. The objective of the present study was to determine the associated risk factors and prevalence of congenital malformations in Ardabil, Iran. Methods: This cross-secti...

2017
Betül Tekin Güveli Rasim Özgür Rosti Alper Güzeltaş Elif Bahar Tuna Dilek Ataklı Serra Sencer Ensar Yekeler Hülya Kayserili Ahmet Dirican Nerses Bebek Betül Baykan Ayşen Gökyiğit Candan Gürses

Objective Antiepileptic drugs (AED) have chronic teratogenic effects, the most common of which are congenital heart disease, cleft lip/palate, urogenital and neural tube defects. The aim of our study is to examine teratogenic effects of AED and the correlation between these malformations and AED in single or multiple pregnancies. Methods This is a retrospective study of malformations in child...

2016
Olga Grechukhina Diana P. English Devin Miller Elena Ratner

BACKGROUND Müllerian duct anomalies represent a wide spectrum of congenital abnormalities ranging from simple uterine anomalies to more complex multisystem derangements. Complete duplication of uterus, cervix, and vagina may be associated with urologic and caudal gastrointestinal malformations. CASE REPORT We present a case report detailing the management of a morbidly obese patient with post...

Wang F Wu HF Yang J,

Background: To report a rare case of a left ejaculatory duct that allotropically protrudes or invades towards the left vesicle triangular area with its dead end. Materials and Methods: The patient simultaneously exhibited multiple congenital malformations of the homolateral urogenital system, such as the absence of a left kidney, the dysplasia and allotopia of the left seminal vesicle, the abse...

2016
C Van Linthout V Emonard JS Gatot X Capelle F Kridelka P Emonts MC Segghaye

Terminal chromosome 1q deletion is rarely reported but causes typical malformations that have been well described in childhood. Clinical features include facial dysmorphy, growth and/or psychomotor retardation, brain agenesis or hypoplasia of the corpus callosum, epilepsy and occasional urogenital or cardiac malformations. The diagnosis of this condition is usually made at birth. The rare cases...

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