639 research outputs found
Community genetics. Its definition 2010
No full textThis paper presents a definition of the medical field of community genetics. It starts with a brief historical overview, defines the requirements for an adequate definition, presents the definition, and discusses the constituent parts of the definition
Ultrasound scanning in fetal renal pelvis dilatation: not only hydronephrosis
No full textPelvic dilatation is the alteration of the urinary tractmost frequently detected by maternal-fetalultra-sound. Hydronephrosis is not a diagnosis; it is an imagefinding. The diagnosis is the cause that produces it. Since pelvic dilatation is relatively frequent in thenormal fetus, and the definition and diagnosis of hy-dronephrosis are difficult, once it is detected, adequate follow-up is required. Therefore, it is important for the urologist and obstetrician to understanddifferential diagnosis and clinical implications in order to offer an accurate counselling to the parents
Searching for preeclampsia genes: the current position
No full textCopyright © 2002 Elsevier Science Ireland Ltd. All rights reserved.Although there is substantial evidence that preeclampsia has a genetic background, the complexity of the processes involved and the fact that preeclampsia is a maternal–fetal phenomenon does not make the search for the molecular basis of preeclampsia genes easy. It is possible that the single phenotype ‘preeclampsia’ in fact should be divided into different sub-groups on genetic or biochemical level. In the present review, the preeclampsia phenotype and its pathophysiologic features are discussed. Family studies and postulated inheritance models are summarized. A systematic overview is given on the numerous candidate gene studies and gene-expression studies performed so far and on the currently available genome-wide scan data. Despite extensive research the molecular genetic basis of preeclampsia remains unclear. Future studies will hopefully enhance our insights in the molecular pathogenesis of preeclampsiaAugusta M. A. Lachmeijer, Guustaaf A. Dekker, Gerard Pals, Jan G. Aarnoudse, Leo P. ten Kate, and Reynir Arngrímssonhttp://www.sciencedirect.com/science/journal/0301211
Preconceptional cystic fibrosis carrier screening: Opinions of general practitioners, gynecologists, and pediatricians in the Netherlands
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