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Biomedical subjects

W Fuhrmann

Publications and source records attributed to W Fuhrmann.

At least 19 recordsLinked to original sources

[Occurrence of 3 primary carcinomas within 26 months].

One case of 3 primary malignant tumors is reported. Having undergone adjuvant polychemotherapy after mastectomy for cancer of the right breast, 2 more primary malignomas were found in a 73-year-old woman within 26 months: malignant melanoma for the right upper arm and scirrhous gastric cancer. Possible induction of secondary/tertiary neoplasms by polychemotherapy with alkylating drugs is discussed. The importance of early detection of secondary/tertiary malignancies and of their delimitation against metastases is underlined as being indispensable for the proper planning of adequate therapy.

Adenocarcinoma, Scirrhous

First trimester maternal serum alpha-fetoprotein screening for Down syndrome and other aneuploidies.

Low maternal serum AFP (MSAFP) values in the first trimester of pregnancy have been associated with an increased risk for chromosome disorders. In our own first trimester chorionic villus sampling (CVS) series, MSAFP determinations were carried out in 1,448 singleton pregnancies. Aneuploidies were detected in 26 of these. The pre-CVS MSAFP values in these pregnancies were compared to those in pregnancies with normal outcome. Statistical analysis did not show a diagnostically useful correlation between low first trimester MSAFP values and aneuploidy in our cohort.

Aneuploidy

Brachy/ectrodactyly and absence or hypoplasia of the fibula: an autosomal dominant condition with low penetrance and variable expressivity.

A complex dysostosis characterized by brachy- and/or ectrodactyly and fibular hypoplasia was found in two distantly related individuals. The proposita, aged 25 years, showed metacarpal and phalangeal hypoplasia on both hands, ectrodactyly on both feet, and nearly complete bilateral absence of the fibula. Only milder acromelic defects were detected in a second cousin. A similar pattern of skeletal involvement had been previously described in an unrelated Italian family. The peculiar segregation pattern can be explained by autosomal dominant inheritance with low penetrance and variable expressivity.

Abnormalities, Multiple

Feto-maternal transfusion after chorionic villus sampling. Evaluation by maternal serum alphafetoprotein measurement.

The alphafetoprotein (AFP) concentration in maternal serum was determined before and after chorionic villus sampling (CVS). A significant increase of 20% or more in the pre-CVS level was noted immediately after sampling in 59% of 837 pregnancies indicating some degree of feto-maternal haemorrhage. The increase in the AFP concentration in maternal serum was correlated with the weight of the tissue sample but not with the number of sampling attempts. A correlation of AFP increase and frequency of spontaneous abortions following CVS was suggested only in the group with an AFP increase of more than 100% or with a continuing rise in the first hour following CVS. CVS in early pregnancy obviously did not interfere with maternal serum AFP screening for neural tube defects in the second trimester. Although AFP measurement before and after CVS seems to have no immediate diagnostic application, in the research phase of CVS it may help to identify those procedures that are the least traumatic.

Abortion, Spontaneous

[What should the pediatrician know about prenatal AFP diagnosis?].

Alphafetoprotein (AFP) represents an embryo-fetal glycoprotein. The fetus it enters amnion fluid and maternal serum. Increased concentrations are observed in these fluids in the presence of certain fetal malformations, e.g. neural tube defects and anterior abdominal wall defects or omphalocele, and in congenital nephrosis of the Finnish type. An increased concentration also signals general risks as an increased tendency to abortion or to low birth weight infants. Very low maternal serum AFP indicates an increased risk for trisomy 21. Postnatally increased AFP-concentration has been described in ataxia-teleangiectasia (Louis-Bar-Syndrome) and in severe combined immunodeficiency syndrome. Although the AFP-determination is mainly used for obstetric prenatal care and diagnosis it also has an importance for the pediatrician as an early indicator of special risks.

Acetylcholinesterase

[Fetoscopy--today].

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Abortion, Spontaneous

[Hypertelorism].

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Craniofacial Dysostosis

Familial basal cell nevus syndrome.

The basal cell nevus syndrome is characterized by multiple basal cell nevi and basal cell carcinoma, cysts of the jaw, anomalies of ribs and spine, abnormal calcifications, and additional anomalies of the facial skull. A German family is described with manifestations of the syndrome in the mother and her three daughters. Expressivity was variable, in part due to age effects. The observation conforms to the assumed autosomal dominant mode of inheritance with high penetrance.

Adult

[Skin defects in the newborn or fetus as questionable sequelae of amniocentesis in early pregnancy (author's transl)].

In three of 111 infants born after amniocentesis and in one of 5 fetuses aborted after amniocentesis, which could be examined, small skin lesions or scars were observed. Interpretation as sequelae of needle puncture appears possible, but questionable, particularly since similar lesions were observed in infants born after uncomplicated pregnancy without amniocentesis. The differential diagnosis of a focal dermal hypoplasia or aplasia may be considered, which may be hereditary.

Abortion, Spontaneous

[Fetoscopy (author's transl)].

It is the aim of fetoscopy to recognise or exclude malformations which are visible in the fetal stage and which are not associated with chromosomal damage. The requisite endoscope can be inserted practically without any problems into the amniotic cavity under local anaesthesia and in the manner of an "extended amniocentesis". If pregnancy is continued, the risk involed in fetoscopy must be assessed as similarly low as that of simple aminocentesis, as the clinical experience collected so far has shown. The clinical use of fetoscopy requires close co-operation with the geneticist and the parents concerned. The decision that fetoscopy is indicated lies mainly with the geneticist on account of the required expert genetic knowledge. Fetoscopy appears justified if there is an increased risk of malformation of the fetus which is manifest in the foetal stage and which is sufficiently serious to initiate therapeutic abortion if necessary, and, furthermore, if the risk involved in fetoscopy is in reasonable proportion to the risk of teh malformation. Over and above this, fetoscopy can also be justified if it is necessary to obtain fetal blood for examination. Satisfactory technical and endoscopic experience is the most important prerequisite for success and for reduced risk. Up to now, indication of fetoscopy was exclusively coupled to existing pregnancy and enhanced genetic risk. On the other hand, the question whether pregnancy should be permitted despite a known risk, simply because subsequent fetoscopy is envisaged, should be treated with reserve.

Abortion, Therapeutic