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Biomedical subjects

R Rauskolb

Publications and source records attributed to R Rauskolb.

At least 37 records · Page 2Linked to original sources
PubMed1987

Roberts syndrome and SC phocomelia. A single genetic entity.

A family with three siblings showing different manifestations of Roberts syndrome or SC phocomelia is described. With regard to previously published cases of familial Roberts syndrome and SC phocomelia we conclude that these two syndromes are one and the same genetic entity.

Abnormalities, Multiple↗
PubMed1984

[Diagnosis of fetal sex from trophoblast DNA].

By using recombinant DNA technology fetal sex determination was performed with 13 different trophoblast samples. In all cases trophoblast and fetal sex were identical. The importance of first trimester trophoblast biopsy for the prenatal diagnosis of inherited disease is being discussed.

DNA↗
PubMed1983

[Possibilities and limitations of fetoscopy in prenatal diagnosis].

The need for fetoscopy in prenatal diagnosis has been established and its value has been demonstrated. The number of cases for which this fetoscopy is necessary remains small. The less traumatic ultra-sound diagnosis more and more competes with endofetoscopic inspection. The fetoscopy is necessary for fetal tissue biopsy and fetal blood sampling. Progress in intra-uterine treatment can be expected.

Biopsy↗
PubMed1983

Fetoscopy.

Explore the source record for details and available documents.

Adult↗
PubMed1980

[Prenatal diagnosis of alpha-1-antitrypsin phenotype. Case record and prognosis in severe alpha-antitrypsin deficiency Pi ZZ (author's transl)].

A mother had a child with cirrhosis of the liver and alpha-1-antitrypsin deficiency. In a subsequent pregnancy the fetal phenotype Pi MZ was detected by isoelectrofocusing in the amniotic fluid. Quantitative assay of alpha-1-antitrypsin gave results in the normal range. Umbilical vein blood analysis confirmed the antenatal findings. In this case it has been possible to rule out the disease before birth. In this context the clinical importance of alpha-1-antitrypsin deficiency is stressed, its frequency in the European and North-American population and the prognosis with phenotype Pi Z.

Female↗
PubMed1980

[The serum levels of estradiol-17 beta and progesterone following hyper-stimulation of the ovaries by clomiphen].

The serum levels of estradiol-17 beta and progesterone in a cycle which was hyperstimulated by Clomiphen are reported. The pre-ovulatory maximum of estradiol-17-beta was 3,240 pg/ml, the maximum during the luteal phase was 2,930 pg/ml. The increase of progesterone to 54.8 ng/ml during the luteal phase was an indication of multiple ovulation. Bilateral ovarian enlargement was palpated. At the same dosage in the following menstrual cycle the maximum pre-ovulatory estradiol-17-beta was 962 pg/ml and the maximum progesterone in the luteal phase was 9.1 ng/ml. During this second cycle the ovaries were not palpably enlarged. It is concluded that sensitivity of the ovaries to hyper-stimulation by Clomiphen may vary from menstrual cycle to menstrual cycle. A single hyperstimulation does not necessarily indicate further hyperstimulation in subsequent cycles.

Adult↗
PubMed1980

[Pregnancies after ineffective interruption or intrauterine procedure in early pregnancy (author's transl)].

We report about 13 pregnancies after intra-uterine procedure in early pregnancy. In 12 cases infant and placenta were without any lesions. One infant had a traumatic loss of the left arm and shoulder caused by the ineffective interruption of pregnancy. Into discussion come the conditions in which we can support the wish to carry on pregnancy after an early intra-uterine procedure.

Abortion, Spontaneous↗