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Biomedical subjects

U Mittler

Publications and source records attributed to U Mittler.

At least 37 records · Page 2Linked to original sources
PubMed1996

[Pathology of Ewing sarcoma].

Ewing's sarcoma is a very rare tumor which has, however, attracted much oncological interest since the dramatic improvement of its prognosis under chemotherapy. Its histogenesis has been discussed controversially for a long time, including a possible origin in immature reticulum, myogenous, endothelial and undifferentiated mesenchymal cells. Repeated reports have also suggested a possible neuroectodermal genesis. Convincing arguments, however, have only been brought forward during recent years, since it was found that Ewing's sarcoma and malignant peripheral neuroectodermal tumor share a common chromosome translocation 11;22. In the meantime this hypothesis has been strengthened by numerous cell biological analyses. There seems to be no clear border between Ewing's sarcoma and malignant peripheral neuroectodermal tumors with definite neural differentiation. Histological differential diagnosis of Ewing's sarcoma has been improved by immunohistological methods. In most cases, they can be distinguished from lymphoma (leucocyte common antigen, B and T markers) and embryonal rhabdomyosarcoma (muscle specific actin, desmin) without problems. Apart from that, it is possible nowadays to obtain antibodies against the MIC 2-protein, which is preferably expressed in Ewing sarcoma. The diagnostics of Ewing's sarcoma and the malignant peripheral neuroectodermal tumor have considerably been enriched by the fact that the specific chromosome translocation t(11;22) can be proved molecular biologically. In contrast to the cytogenetic evidence, it is not necessary to establish cell cultures.

Biomarkers, Tumor↗
PubMed1996

Mutation spectrum of p53 gene in highly malignant human osteosarcomas.

In this study, we analyzed the spectrum of p53 tumor suppressor gene mutations in 40 highly malignant osteosarcomas, one osteosarcoma metastasis, and one osteoblastoma with malignant transformation. Using predominantly formalin-fixed and paraffin-embedded material, we performed polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis of exons 4-8 and direct sequencing. Molecular genetic findings were correlated with immunohistochemical detection of p53 protein. A total of eight alterations (19%) were identified. Two splice mutations were detected in one case of a highly malignant osteosarcoma and its metastasis, and in one osteoblastoma with focal malignant transformation. Four of the mutations were missense mutations, one was of the silent type. These data correspond to the results found in the literature on bone and soft tissue tumors. Therefore, retrospective studies of p53 gene turn out to be quite appropriate for molecular biologic examinations.

Adolescent↗
PubMed1994

Genetic heterogeneity of severe von Willebrand disease type III in the German population.

The genetic heterogeneity of severe von Willebrand disease (vWd) type III was estimated by analysing extended haplotypes of eleven intragenic restriction fragment length polymorphisms and one variable number of tandem repeat polymorphism in 32 patients from 28 families from Germany or of German origin. All patients were screened for gross deletions and for mutations at potential "hot spot" regions of the von Willebrand factor (vWf) gene. Disease-associated haplotypes were established in 24 families. Only a few, apparently unrelated families shared common haplotypes suggesting a considerable genetic heterogeneity in the German population of vWd type III patients. Defects causing vWd type III were identified on 14 out of 56 chromosomes (25%). Gross deletions were detected in two families. A complete homozygous deletion of the vWf gene was displayed in one patient. Another patient was compound heterozygous for a large deletion of at least 100 kb of the vWf gene with an additional, as yet unidentified, defect. One homozygous missense mutation was detected in exon 10, and two nonsense mutations were detected in exon 8 and exon 45 of the vWf gene, respectively. A frameshift mutation (delta C) in exon 18 was identified in five families and an additional frameshift mutation (delta G) was found in exon 28 in one family. It appears that delta C is the most common molecular defect in German patients with vWd type III. Its association with a number of different haplotypes suggests repeated de novo mutations at a mutation "hot spot". Evidence is presented that particular molecular defects causing vWd type III are associated with different patterns of inheritance, depending on their location within the vWf gene. Complete deletions of the gene and nonsense mutations in the pro-sequence are correlated with recessive inheritance, whereas frameshift and nonsense mutations in the gene sequence corresponding to the mature vWf subunit tend to be inherited in a dominant fashion.

Adolescent↗
PubMed1993

[Experience with the glycerol lysis test in acid medium in diagnosis of hereditary spherocytosis].

The acidified glycerol lysis test (AGLT) is highly sensitive for hereditary spherocytosis (HS). In all 50 patients of the Children's Hospital of the Medical Academy Magdeburg suffering from HS the 50% lysis time was found to be pathological between 19 and 110 seconds. However, pathological results of this test were also found in autoimmune haemolytic anaemias. AGLT was negative in non-spherocytic haemolytic anaemias and normal controls. In conclusion, the AGLT is a rapid, simple and inexpensive screening procedure for spherocytes in blood.

Acid-Base Equilibrium↗
PubMed1993

[Therapy of idiopathic thrombocytopenic purpura in childhood].

Idiopathic thrombocytopenic purpura characterised by an increased bleeding tendency is a well-known clinical entity in childhood. From 1983 to 1992 68 patients suffering from ITP were treated at the Children's Hospital of the Medical Academy of Magdeburg. 11 patients with mild or without clinical symptoms and platelet counts of more than 20 Gpt/l did not receive any treatment; all children recovered spontaneously. 38 patients with severe haemorrhagic manifestations and thrombocytes less than 20 Gpt/l were treated with corticosteroids and had a sustained remission. 10 patients who had responded to corticosteroids initially and subsequently relapsed were given other treatments (Anti-Rhesus-antibodies, HDIVG). All patients achieved a continuous remission. A chronic disease was observed in 8 patients; 3 of them were splenectomised. One child died due to massive gastrointestinal bleeding.

Adolescent↗
PubMed1990

Prospective study on the influence of radiochemotherapy on pituitary function in children with acute leukaemia and NHL.

To assess effects of chemo- and radiotherapy on the endocrine system 31 children with acute leukaemia and NHL (3 AML, 24 ALL, 4 NHL) were investigated. Children were treated according to modified BFM protocols. 25 patients were before, 5 during and one after puberty (2 to 16 y.). Before treatment, during induction therapy, during cranial irradiation, 4-6 weeks later and during maintenance therapy the following hormone values were estimated: TSH and prolactin basal and 30 min. after TRH (5 micrograms/kg i.v.), LH and FSH basal. Final investigations included total T4 and T3. In conclusion, chemo- und radiotherapy lead to transient elevations of TSH and prolactin in a few patients, but without proof for permanent disorders. Due to the fact all 3 patients with hyperprolactinaemia showed high prolactin levels (700 to 770 mU/l) already before treatment it is unlikely therapy was the main cause of these observed alterations. Although basal LH and FSH values were in normal ranges for age the increasing values after cranial irradiation in prepubertal children may reflect a possible initiation of early maturation, reported by others. Furthermore a retrospective growth study was performed in children treated with 2 different protocols. Protocol LSA2L2 used in the past before 1981 resulted in a permanent reduction of the height. In contrast, the mean SDS for height in children treated with protocol VII declined only during the intensive period of treatment. A catch-up growth occured already during maintenance therapy. Prophylactic cranial irradiation with 18 Gy in our patients under protocol LSA2L2 did not affect growth during the first 5 years after diagnosis.

Acute Disease↗
PubMed1990

[Arthrosonography--a modern method for morphologic and functional joint evaluation in hemophilia].

The arthrosonography is a new depicting procedure for detection of destructing joint processes in haemophilia. A direct evaluation of the cartilage, of the border between cartilage and bone, of the synovial membrane with proliferative processes as well as the differentiation between soft-tissue bleeding and haemarthros are possible. An essential advantage is given by a combined morphological and functional joint evaluation. The diagnosis of joint instabilities can be recognized easier by sonography than by X-ray. Clinical findings are completed in an excellent manner and lesions of bone and cartilage are detected earlier by arthrosonography.

Adolescent↗
PubMed1990

[Echocardiography studies for detection of cardiotoxic side effects of anthracycline therapy in childhood].

An anthracycline-induced cardiomyopathy can already appear at a total cumulative dose of less then 550 mg/m2. Noninvasive cardiological methods have been used in order to detect these fatal side effects early. For cardiological control we applied echo-cardiography with measurements of ventricular size and left ventricular function. 5 out of 39 children who were off anthracycline therapy for 3 months to 8 years showed a decline in left ventricular function, but no clinical symptoms. At present 16 children with anthracycline therapy are controlled by echocardiography. In 2 patients a transient myocardial dysfunction was diagnosed. After stopping anthracycline therapy the left ventricular function improved within 2 to 3 months without specific cardiac treatment.

Adolescent↗
PubMed1990

[Detection of soluble fibrin monomer complexes by the netropsin precipitation test in childhood meningitis].

During a period of two years children with abacterial meningitis as well as bacterial meningitis were examined before treatment and later during disease. The new Netropsin praecipitation test according to Funke and coworkers was used to detect soluble fibrin monomer complexes. Only in a few cases of abacterial meningitis, but in the majority of cases with bacterial meningitis, a positive result had been shown. Excessive increase had been found in Waterhouse-Friderichsen syndrome. According to our results of coagulation tests we conclude 1. the ethanol gelation test is out-of-date, 2. the heparin treatment in bacterial meningitis is further indicated.

Child↗
PubMed1990

[Monitoring hearing during ototoxic cisplatin therapy].

In the 1983-1988 period, the audition of 17 children was studied prior to and during antineoplastic chemotherapy with cumulative total cisplatin doses from 270 to 1530 mg/m2. The hearing tests were conducted by means of an objective method which doses not depend on patients' cooperation: the recording of fast auditory evoked potentials. Tone threshold audiograms were additionally obtained from cooperative children. Of the 17 patients, 14 showed a dose-dependent symmetric hearing loss which in part was severe and related in particular to the high-frequency domain. Three patients exhibited no hearing impairment even though the total cisplatin dose applied ranged from 630 to 810 mg/m2. To conclude, while allowing for reports in the literature, recommendations are given on how hearing impairment can be minimised in view of the priority of the antineoplastic action of cisplatin.

Adolescent↗
PubMed1990

[Coagulation factor IX inhibitor in hemophilia B].

An inhibitor against blood clotting factor IX was observed as a very rare finding in case of an eight year old boy suffering from haemophilia B. By reason of a haemarthros a replacement therapy was successful done using FEIBA (Factor Eight Inhibitor Bypassing Activity). The haemostatic characterization of the inhibitor and its influence by therapy will be presented.

Child↗
PubMed1990

[The effect of different ALL therapeutic protocols on body height and the growth rate].

Adult height in 20 patients, successfully treated for childhood leukemia, led to reduced height less than 2 standard deviations (S.D.). The loss in projected final height of 0.8 S.D. was mainly due to intensity of maintenance therapy of protocol LSA2L2 (14). In contrast, less intensive maintenance therapy (6-MP and MTX) of protocol BFM 81 (13) showed a transient growth spurt. Final height equals projected target height. Neither 18-Gy nor gold-198 intrathecally compromised final height.

Body Height↗
PubMed1989

[Attempt at diagnosis of hereditary spherocytosis using the ionophore valinomycin].

On the basis of former observations that erythrocytes of patients with hereditary spherocytosis (HS) exhibit a slighter K+ efflux under the influence of valinomycin and a diminished shrinking, the attempt was made to use this phenomenon in routine diagnostics. In pair comparison the findings already known could be proved impressively. However, obligatory limiting values which make it possible to dispense with giving statements of comparison could not be established. In this report the test is of limited value for haematological diagnostics.

Erythrocytes↗