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Biomedical subjects

J Klapp

Publications and source records attributed to J Klapp.

12 recordsLinked to original sources
PubMed2005

A new family with frontotemporal dementia with intronic 10+3 splice site mutation in the tau gene: neuropathology and molecular effects.

Mutations in the tau gene cause familial frontotemporal dementia with parkinsonism linked to chromosome 17 characterized by filamentous tau protein deposits. Here we describe the clinical and neuropathological features of a case from a newly identified family with an intron 10+3-splice site mutation in the tau gene. The proband presented with severe personality changes and stereotyped speech followed by parkinsonian symptoms. He died at age 56 after a disease duration of approximately 6 years. At autopsy, there was marked frontotemporal degeneration with abundant tau-immunoreactive neuronal and glial inclusions widespread in the cortex and brainstem. RT-PCR analysis revealed a 3.7-fold increase of tau transcripts with exon 10, resulting in an 1.7-fold higher expression level of 4-repeat tau isoforms in soluble tau fractions when compared to control brains and exclusively 4-repeat tau isoforms in the sarcosyl-insoluble tau fractions. In accordance with the hypothesis that the overexpression leads to saturation of microtubule binding sites and an increase of unbound 4-repeat tau isoforms which assemble into filaments, the neuronal and glial inclusions in this case were exclusively composed of 4-repeat tau isoforms. The clinical and neuropathological data of this family are compared with results from the two other published families with the intron 10 + 3 mutation, the MSTD and the SOT 254 family.

Base Sequence↗
PubMed2001

Screening for trisomy 21 by fetal nuchal translucency and maternal age: a multicenter project in Germany, Austria and Switzerland.

OBJECTIVE: To examine the effectiveness of screening for trisomy 21 by a combination of maternal age and fetal nuchal translucency thickness at 10-14 weeks of gestation in Germany, Austria and Switzerland. METHODS: This was a multicenter study of screening for trisomy 21 by a combination of maternal age and fetal nuchal translucency thickness at 10-14 weeks of gestation. All the sonographers involved in the study had received The Fetal Medicine Foundation Certificate of Competence in the 10-14-week scan. Fetal nuchal translucency thickness and crown-rump length were measured in 23 805 singleton pregnancies with live fetuses. In each case the risk for trisomy 21 was estimated on the basis of maternal age and fetal nuchal translucency thickness for crown-rump length with the use of The Fetal Medicine Foundation's software. The distribution of estimated risk was determined and the sensitivity and false-positive rate for a risk cut-off of 1 in 300 was calculated. RESULTS: Fetal nuchal translucency thickness was successfully measured in all 23 805 pregnancies and outcome was available in 21 959. The median maternal age was 33 (range 15-49) years and in 7935 (36.1%) the age was 35 years or greater. The median gestation at screening was 12 (10-14) weeks and the median fetal crown-rump length was 61 (range 38-84) mm. The estimated risk for trisomy 21 based on maternal age and fetal nuchal translucency thickness for crown-rump length was 1 in 300 or greater in 13.0% (2800 of 21 475) normal pregnancies, in 87.6% (184 of 210) of those with trisomy 21 and in 87.2% (239 of 274) with other chromosomal defects. CONCLUSIONS: In Germany, Austria and Switzerland the results of screening for chromosomal defects by measurement of fetal nuchal translucency thickness, in centers with appropriately qualified sonographers and using The Fetal Medicine Foundation's software, are similar to those reported in the UK using the same methodology.

Austria↗
PubMed1990

[Early amniocentesis].

Preliminary clinical experience with early amniocentesis is reported. Fifty-two amniocenteses were performed before the end of the 14th week following the last menstrual period. Cytogenetic and biochemical analyses (AFP, AChE) were performed. Increasing experience with amniotic fluid samples containing small-cell populations and the use of combined culture media improved the poor initial results to a 100% level, thus enabling the use of this technique for diagnostic purposes. The sampling technique and the post-procedural evolution of twelve amniocenteses in pregnant women, whose pregnancy is to be continued, are presented. The possibility of performing amniocentesis in early pregnancy is discussed with reference to anatomical aspects (amniotic and chorionic cavity).

Acetylcholinesterase↗
PubMed1988

[Open laparoscopy in patients at risk].

A variant of the technique of open laparoscopy is reported. The principal feature of this technique is that creation of a pneumoperitoneum is simplified. No additional instruments are required, nor sharp instruments, except for the skin incision and splitting of the fascia. The modified open laparoscopy technique was used on 23 high-risk patients in a group of 224 patients on whom laparoscopy was performed at Ludwigshafen Gynecological Clinic. The technique is discussed with reference to the literature.

Female↗
PubMed1987

[Transabdominal chorionic biopsy: indications and timing of the procedure].

The article reports on the introduction of transabdominal chorionic biopsy in the Gynaecological Hospital of Ludwigshafen in cooperation with the Department of Human Genetics at the University of Heidelberg. After completion of a pilot study 15 diagnostic transabdominal chorionic biopsies were performed between the 15th and 23rd pregnancy week. Sampling was successful in all cases; the median estimated weight of the biopsied samples was 35 mg. Cytogenic, biochemical and molecular-genetic examinations were conducted. No complications were seen except for one subserous haematoma. Indications and time of performance are discussed. The transabdominal chorionic biopsy is easier to conduct in the 2nd trimenon than during the first, and can therefore be considered to be a favorable "entry" into the technique. Shifting the biopsy to an earlier date, namely, into the first trimenon, can be aimed at as the familiarity with the technique increases. The obvious advantages of transabdominal removal of villi compared with the transcervical method lead us to expect that in course of the time the transcervical method will be replaced by the transabdominal one. No indication for invasive prenatal diagnosis should be implied without previous detailed genetic counselling.

Adult↗
PubMedDate not supplied

Utilization of magnetic resonance imaging in autopsy planning with specimen preservation for thoraco-omphalopagus symmetricus conjoined twins.

Conjoined twinning is a rare obstetric event that has fascinated physicians and laypersons alike for centuries. When this event occurs, early diagnosis, close prenatal management, and the proper route of delivery will assure the best possible outcome for mother and affected infants. Magnetic resonance imaging (MRI) is used both as an ancillary technique to the sonography for the antepartum diagnosis and in the preoperative planning for the surgical separation of conjoined twins. This report describes the MRI findings in conjoined twins of the thoraco-omphalopagus symmetricus type, a condition incompatible with extrauterine life. The twins were delivered at 21 weeks gestation. The MRI was used to evaluate the anatomic nature of the internal anomalies. These findings were then used to develop an autopsy approach plan that preserved the external phenotype. After dissection, the specimen was preserved by using polyethylene glycol and ultimately prepared for use as a teaching specimen.

Autopsy↗
PubMedDate not supplied

[Transabdominal chorionic villi aspiration in the 1st and 2d trimester in 120 cases with reference to placental location].

At the Gynecological Clinic of the Klinikum Ludwigshafen prenatal transabdominal diagnostic aspiration of villi was performed in 120 cases in the first and second trimesters between October 1986 and April 1988. The puncture was performed using a cannula system comprising a guide and an aspiration needle. The ultrasonographically controlled removal technique is described with special consideration of the procedure in cases with placental insertion in the posterior wall. Successful tissue removal (at least 5 mg of tissue) was achieved in 97.5% of the cases. Cytogenetic, biochemical, and molecular biologic studies were performed. The most frequent indication was to detect chromosome disorders in older mothers (74.2%). Such disorders were diagnosed in 4.2% of all cases and pregnancy was terminated in seven of them; the indications were aneuploidies, metabolic disease, or severe developmental anomalies detected by ultrasonography in normal karyotypes. In the remaining 113 pregnancies one miscarriage was seen nine weeks after aspiration of villi. On the basis of these results the abortion risk following transabdominal chorionic biopsy is 0.88% and is thus similar to that following amniocentesis.

Abortion, Eugenic↗