Gundula Girschick

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Many genetic diseases have been linked to the dysfunction of primary cilia, which occur nearly ubiquitously in the body and act as solitary cellular mechanosensory organelles. The list of clinical manifestations and affected tissues in cilia-related disorders (ciliopathies) such as nephronophthisis is broad and has been attributed to the wide expression(More)
Doppler recordings of fetal venous blood flow seem to be superior to arterial velocimetry and CTG concerning the prediction of fetal outcome and optimal time of delivery in pregnancies with fetal growth retardation and AREDV. An improvement of arterial Doppler flow velocities has been described. We report the reappearance of a normal end-diastolic flow(More)
Intrauterine growth restriction (IGUR) can have different etiologies, but placental insufficiency is the clinically most relevant. Fetuses with IUGR have a significantly higher morbidity and mortality than normally grown fetuses of the same gestational age. It is important to distinguish a growth restricted fetus from a normal, small fetus and from a fetus(More)
Malformations of the central nervous system are among the most frequent congenital anomalies. At best, a qualified and standardised screening of the foetal brain is possible between the 18th and the 22nd week. The newly decided modification of the maternity directives envisages an extended screening upon request. This extended screening refers to the(More)
BACKGROUND High end sonography allows the prenatal localization of the kidneys and the corresponding urine drainage system as early as 10-13 weeks of gestation. In mid second trimester, the voiding and filling of the urinary bladder can be demonstrated by ultrasound. Obstructions are the most common abnormalities of the urogenital tract. Though less(More)
A 27-year-old woman with a periodically bleeding out of the umbilicus was found to have umbilical endometriosis. She was never pregnant before and had no pelvic surgery. The umbilical lesion was excised following a diagnostic laparoscopy revealing extragenital endometriosis. Umbilical endometriosis is a very rare disease, but should be considered in the(More)
BACKGROUND Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) is a rare autosomal recessive disease with blister formation within the lamina lucida due to mutations in the integrin β4 (ITGB4) and α6 (ITGA6) genes. CASE REPORT A female preterm infant, first child of healthy non-consanguineous parents, was born at 26 + 4 weeks of gestation by(More)
OBJECTIVES To develop and to evaluate a specific sonographic weight formula for fetuses with abdominal wall defects. METHODS For formula finding, 380 preterm singleton pregnancies without fetal anomalies were included. Ultrasound examinations with complete biometric parameters were performed within 7 days before delivery. Stepwise regression analysis was(More)
Significant placental insufficiency, indicated by Doppler ultrasound findings of absent or reverse end-diastolic flow velocities (AREDV), is associated with increased morbidity and mortality. Analysis of blood flow in the ductus venosus should assist in early intrauterine recognition of threatened foetuses. 58 high-risk pregnancies with umbilical AREDV were(More)