Search PubMed⌕ Search

Biomedical subjects

J Edelmann

Publications and source records attributed to J Edelmann.

30 records · Page 2Linked to original sources

Pitfalls in prenatal diagnosis of DMD due to placental mosaicism of the X-chromosomes: prenatal and postnatal findings in a fetus with a deletion of exons 67-71 of the dystrophin gene.

Prenatal diagnosis of Duchenne and Becker muscular dystrophy (DMD) is performed as a routine procedure in many laboratories. The major potential problem is an incorrect diagnosis that could be obtained due to contamination with maternal tissue. We report a case of mosaicism of the X-chromosomes confined to the placenta as a possible source of confusing results in prenatal diagnosis of DMD. To the best of our knowledge, this is the first reported case of this problem in a prenatal DMD diagnosis.

Abortion, Induced↗

Validation of the HumDXS6807 short tandem repeat polymorphism for forensic application.

This paper presents sequence and population genetic data of the HumDXS6807 short tandem repeat (also known as CHLC.GATA52B03) which is a tetranucleotide repeat polymorphism representing seven alleles of 251-275 bp in length. HumDXS6807 is located at Xpter-Xp22.2, i.e., at a genetic distance of more than 87 and 151 cM from the well-known markers HumARA and HumHPRTB, respectively. Kinship tests in 157 family trios revealed a typical X-linked codominant inheritance; mutations were not found. Population genetic data were obtained by analyzing a Caucasian population sample comprising 308 females and 209 males: polymorphism information content (PIC) = 0.640; Heterozygosity (Het) = 0.668; Mean exclusion chance (MEC) = 0.414. The HumDXS6807 allele distribution met the Hardy-Weinberg expectations.

DNA↗

Short tandem repeat (STR) locus HUMD8S306 in a large population sample from Germany.

Applied DNA typing in medico-legal investigations, in criminalistic practice, and in paternity cases often relies on high inclusion and exclusion probabilities. For that reason, the short autosomal tandem repeat locus D8D306 was validated for forensic use and incorporated into a nonoverlapping multiplex reaction with HUMDHFRP2 and HUMCD4: The allele frequencies of D8S306 in four different regions of Germany (n = 1220 alleles) were determined for use in a population database; the allele distributions did not significantly deviate from each other. The hererozygosity of D8S306 is 83%, expected exclusion chance in stain cases is 96% (paternity cases: 69%), the lowest amount of successfully amplified DNA was 30 pg. The alleles are in Hardy-Weinberg equilibrium.

Alleles↗

Y chromosome polymorphisms and haplotypes in west Saxony (Germany).

In order to apply a set of useful and high polymorphic Y-STRs in paternity testing, we performed a population genetic study from Saxony. The allele distributions of the systems DYS19, DYS385, DYS389I/II and DYS390 were investigated in a sample of 250 unrelated males from the area of Leipzig. PCR products were detected using native polyacrylamide gel electrophoresis as well as capillary electrophoresis and GenScan Software on the ABI Prism 310 DNA sequencer. Haplotype frequency data of 164 different types were obtained which show that these four systems are very useful for special cases of paternity and forensic stain analysis. In addition several confirmed father-son pairs were examined using the paternity cases of the institute. One mutation was found in the system DYS390 and sequencing data are presented.

Alleles↗

Second unrelated bone marrow transplantation without additional conditioning therapy after engraftment failure.

A 37-year-old female highly alloimmunized by multiple transfusions received a sex matched HLA-identical unrelated bone marrow transplant for hypoplastic MDS-RA with moderate myelofibrosis. Conditioning consisted of total body irradiation, cyclophosphamide and ATG, GVHD prophylaxis consisted of CsA, MTX and prednisolone. The CD34+ stem cell content of the first graft was relatively low due to an inadequate harvest. The patient appeared not to have engrafted by day 23 post-BMT. She therefore received a second sex mismatched HLA-identical unrelated bone marrow graft on day 25 after two days of 3.5 mg/kg methylprednisolone from a different donor. Over the ensuing days, the first marrow showed slow engraftment followed by engraftment of the second graft. The first graft was then rejected, as monitored by peripheral blood studies of chimerism. No signs of acute GVHD were observed. Despite successful trilineage engraftment and complete second donor chimerism, the patient died from disseminated toxoplasmosis encephalitis and pneumonia on day +104.

Adult↗

GEDNAP IV and V. The 4th and 5th Stain Blind Trials using DNA technology.

In the collaborative exercise GEDNAP IV one EDTA blood sample (2 ml) and 5 bloodstains (0.5 ml on cotton) were investigated and in GEDNAP V, a total of 8 bloodstains (0.5 ml on cotton), including 2 mixed bloodstains. DNA typing was carried out using the RFLP systems YNH24/Hinf I and MS43a/Hinf I and the PCR systems HLA DQ alpha, D1S80, ApoB and YNZ22. In both exercises approximately 20 laboratories obtained results using the RFLP systems. Of the PCR systems, D1S80 was the most commonly used (14 labs in GEDNAP IV; 18 labs in GEDNAP V). The interlaboratory standard deviation for YNH24 in both exercises was approx. 0.6%, for MS43a 0.7-2.2% (GEDNAP IV) and 0.4-1.4% (GEDNAP V), depending on the fragment size. The fragment size calculation performed in each laboratory yielded a standard deviation twice that obtained when the fragment size calculation was performed centrally (IfR, Münster). In GEDNAP III, a system-specific corridor was developed to define the limits of deviation; this was modified for the present study by combining the fragment size ranges of YNH24 and MS43a. In both studies a subgroup of laboratories was involved in preliminary exercises using three PCR VNTRs and the system HLA DQ alpha. Owing to the substantial variation in experience of the participating laboratories with PCR typing the results obtained in these two studies do not fulfil the basic quality criteria of the GEDNAP studies.

Apolipoproteins B↗

Individualisation of dental tissue--an aid for odontological identification?

The introduction of new methods in forensic diagnostics, especially serological techniques, including the use of individual markers for identification is becoming increasingly important. The DNA techniques are particularly promising and dental tissue, especially dental pulp, is a good source of DNA because it is well protected against autolysis. Gc-subtyping and application of DNA techniques for identification were reported in 1992 and show the efficacy of PCR systems for the individualisation of dental tissues. In cases of optimal conditions-room temperature and dry air-the analysis was successful after 6 or 12 months and the results could be used for identification. Under the influence of high temperature autolysis occurs and the pulp degrades making DNA typing almost impossible. The experiments show that the system HLA-DQ alpha is more reliable than the system MCT 118 and the results confirm that these techniques can be used for identification of unknown persons in some cases. The methods are only usable if comparative material belonging to the subject, such as hair, is available.

Alleles↗

[Scanning electron microscopic studies on the efficacy of irrigated, hand root canal preparation].

The effectiveness of hand preparation and irrigation of 48 root canals of upper anterior teeth was evaluated by scanning electron microscopy. Independently of instrument (K reamer or combination K reamer and H file), irrigating solution (sodium chloride) and root canal dressing a similar degree of preparing and cleaning effectiveness of root canals was detected. In all groups a homogeneous or inhomogeneous smear layer of different thickness and extent dominated. A scale of preparing and cleaning effectiveness is recommended.

Dental Pulp Cavity↗

[Importance of secretory IgA in human body fluids. I. Development of an enzyme immunoassay for secretory IgA].

This paper describes an enzyme-immunoassay for the quantitative estimation of secretory IgA(S-IgA). As solid phase a monoclonal antibody against human secretory component was used, a polyclonal peroxidase labeled anti-IgA serum as conjugate. Thus, the method was specific for S-IgA. The test was done in microtiter plates, the upper limit was 0.5 ng S-IgA/ml. The standards of our test system ran in normal ranges, the coefficients of variation were 6.9% in the within-day-test and 12.2% in the day-to-day-test. The described test system is effective and sensitive. It is suitable for clinical use.

Antibodies, Monoclonal↗

X chromosomal and autosomal loss of heterozygosity and microsatellite instability in human cervical carcinoma.

The study analyzes tumor material and normal tissue from 27 patients with pure squamous cell carcinoma of the uterine cervix for loss of heterozygosity (LOH) and microsatellite instability (MSI) on 14 autosomal and 11 X chromosomal loci. Overall, 4-40% of the informative cases showed LOH at autosomal regions with the highest frequency at 3p (21-40%) and a marked frequency at 2q35-q37.1 (12.5%) and 17p13.3 (10%), representing regions with putative tumor suppressor gene (TSG) function. The frequency of X chromosomal LOH ranged from 4% to 20%, with a maximum at Xq28 (20%) and Xq11.2-q12 (17%), again indicating alterations in TSG. A 12% LOH was seen at Xq21.33-q22.3, a region encoding a protein with a regulatory function in the cell cycle via cyclin-dependent kinases. MSI was detected in autosomal regions in up to 7% in regions linked to the X chromosome in up to 11%, probably indicating alterations of mismatch repair mechanisms. Our results and those obtained from the literature suggest that autosomal LOH and MSI in carcinomas of the cervix uteri are predominantly found at regions with putative TSG function. Beside TSG alterations, X chromosomal LOH is probably more strongly connected to disturbances in cell cycle regulation.

Carcinoma↗