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Biomedical subjects

E Kohne

Publications and source records attributed to E Kohne.

At least 55 records · Page 3Linked to original sources
PubMed1985

DNA-polymorphic patterns linked to the beta-globin genes in German families affected with hemoglobinopathies and thalassemias: a comparison to other ethnic groups.

DNA haplotype constellations of the beta-globin gene cluster have been analyzed in German families with hemoglobinopathies (Hb Freiburg, Hb Köln, Hb Presbyterian) and beta-thalassemias. The polymorphic patterns obtained were compared to those found in families from Greece, Italy, and Turkey affected by beta-thalassemia syndromes. With the combined analysis of seven restriction site polymorphisms a DNA-diagnostic prediction for additional offspring could be made with an overall frequency of 75% in the four ethnic groups.

DNA↗
PubMed1984

[Bone marrow transplantation in panmyelopathy, acute leukemia and chronic myelocytic leukemia: results of the Ulm Transplantation Group].

From 1972-1983 53 patients underwent bone marrow transplantation. The median age was 18 years (3-41). 27 patients suffered from severe aplastic anaemia, 22 patients had acute leukaemia and 4 patients had chronic granulocytic leukaemia in chronic phase. Out of 22 patients with acute leukaemia, 2 had florid leukaemia, 2 had an early relapse and 18 patients were in first or second remission of their disease. 2/53 patients received a syngeneic transplant, 51/53 patients an allogeneic transplant. 47/51 patients had a HLA-A, B, C-identical, MLC-negative sibling donor, 1/51 had a HLA-A, B-C-identical, MLC-positive sibling donor, 2/51 a HLA-phaenotypical identical parental donor and 1/51 a HLA-identical, MLC-negative unrelated donor. The comparison of the results obtained in patients with severe aplastic anaemia transplanted from 1972-1979 with those transplanted from 1980-1983 shows that the bone marrow transplantation has to be performed in an early stage of the disease before the patients become multiple transfused, sensitized and severely infected and that the conditioning regimen for polytransfused patients has to be more intensive than in untransfused patients. From the patient group transplanted 1972-1979, only 1/14 patients is a long-term survivor in contrast to 8/13 patients transplanted from 1980-1983. 11/22 patients with acute leukaemia are alive between more than 5 years and 14 days after bone marrow transplantation. Only 1/4 patients, who were transplanted not in remission, is alive.(ABSTRACT TRUNCATED AT 250 WORDS)

Acute Disease↗
PubMed1984

Hemoglobin Köln: analysis of linkage relationships between the mutant gene and polymorphic restriction sites in the beta-globin gene cluster.

Nuclear DNA has been analyzed by means of restriction endonuclease mapping procedure to identify chromosomes that carry mutant Hb Köln beta-globin genes in a family with individuals heterozygous for this disease. Inherited DNA polymorphisms within the beta-globin gene cluster yielded a direct linkage of the Hb Köln mutation to haplotype constellations that are diagnostic for further offspring.

Carrier Proteins↗
PubMed1984

IgG therapy in systemic lupus erythematosus--two case reports.

Two paediatric patients with systemic lupus erythematosus were treated with immunoglobulin G (IgG). In the first case treatment resulted in regression of the most acute symptoms and a long remission was achieved. In the second patient, who was treated during the chronic stage of the disease, there was no significant effect on the course of the SLE.

Azathioprine↗
PubMed1984

Alpha-globin gene deletion causes alpha-thalassemia syndromes in two German families.

Restriction endonuclease mapping of chromosomal DNA has been used to determine whether the alpha-globin gene deletion or non-deletion form of alpha-thalassemia is the underlying molecular defect in individuals of two unrelated German families with alpha-thalassemia syndromes. The obtained DNA pattern in all cases indicated loss of alpha-globin genes resulting in -alpha/alpha alpha, --/alpha alpha, and --/-alpha genotypes in alpha-thalassemia-2, alpha-thalassemia-1, and Hb H individuals respectively. The chromosomes showing loss of one alpha-globin gene in alpha-thalassemia-2 and Hb H disease were characterized by the so-called rightward deletion form exhibiting loss of a 3.7 kb DNA fragment in the alpha-gene cluster.

Chromosome Deletion↗
PubMed1983

DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian beta-globin gene.

Restriction endonuclease mapping of cellular DNA has been used to identify chromosomes that carry the mutant Hb Presbyterian beta-globin genes in a family with individuals heterozygous for this disease. The presence of the polymorphic Hind III restriction site in the G gamma-globin gene and its absence in the A gamma-globin gene were shown to be in phase with the Hb Presbyterian mutation yielding a haplotype constellation that is diagnostic for any further affected offspring.

Chromosome Mapping↗
PubMed1983

Hb M Milwaukee: direct detection of the beta-globin gene mutation in three generations of an afflicted family.

Chromosomal DNA from three individuals with familial hemoglobin M (Hb M) Milwaukee was studied by restriction endonuclease analysis. The segregation of the mutant beta-globin gene could be followed through three generations by direct Sst I analysis at the gene level. Various restriction endonucleases were used to confirm the positions of Sst I sites in the delta-beta A- and delta-beta Mi-globin gene regions.

Base Sequence↗
PubMed1983

Sickle cell-beta +-thalassaemia: a haematological and clinical study in Liberia.

Clinical and haematological features of 20 patients of several Liberian ethnic groups with sickle cell-beta +-thalassaemia are reported. Haemoglobin analysis showed increased Hb A2 values, high Hb A levels (median 25%), variable amounts of Hb F and a slight imbalance of non alpha/alpha globin chain synthesis ratios. The clinical and other haematological findings varied but the disease seems to run a relatively mild course in the majority of the patients.

Adolescent↗
PubMed1983

Therapy of acute lymphocytic leukemia in childhood with intermediate dose methotrexate and CNS irradiation. A report of the ALL 77-02 study group.

One hundred and eight children with acute lymphocytic leukemia (ALL) were admitted to a prospective therapeutic regime. Remission induction was achieved in 94% of the cases with vincristine, L-asparaginase, adriamycine and prednisone. One hundred and one patients received three intermediate dose methotrexate (MTX) infusions combined with intrathecal MTX, followed by L-asparaginase 24 h later. High risk (HR) patients (n = 50) were treated in addition with high dose cyclophosphamide and Ara-C over 3 weeks. One hundred and one patients received cranial irradiation (1,800 rads standard risk (SR)-patients, 2,400 rads HR-patients) and intrathecal MTX. Maintenance therapy was performed with the usual two drug combination of daily 6 mercaptopurine (6 MP) and weekly MTX orally. Based on phenotyping 67% of patients had common type ALL, and pre-T or T-cell type in 18%. Six per cent of the patients had leukemic blasts expressing both common ALL and T-cell markers (c/T-type); 9% had acute undifferentiated leukemia (AUL). Out of 108, 101 achieved a complete remission, 6 patients died during induction therapy, 1 was a non-responder and 9 patients relapsed. Of these Four patients died in continuous complete remission (CCR). For 101 patients the 30 months probability of CCR is 0.85 (+/- 0.05). For 51 patients with standard risk CCR probability is 0.98 (+/- 0.03), for 50 patients with high risk indices it is 0.65 (+/- 0.11). Patients with c-ALL have a CCR survival of 0.85 (+/- 0.07), those with T- or pre-T-ALL 0.88 (+/- 0.09), all 5 patients with c/T-ALL alive in CCR. In our study pediatric AUL patients have the most unfavourable prognosis.

Acute Disease↗
PubMed1983

Analysis of the Hb M Milwaukee mutation at the DNA level.

Restriction endonuclease mapping of cellular DNA with the enzyme Sst I has been used to detect the haemoglobin (Hb) Milwaukee mutation directly. Instead of a normal 15.5 kilobase pairs (kb) fragment which contains the normal beta-globin structural genes, in heterozygous Hb M Milwaukee DNA two additional fragments of 9.0 kb and 6.5 kb were obtained that are diagnostic for this anomaly. The position of Sst I sites within the beta-globin gene region could be established.

Base Sequence↗
PubMed1982

Relation between the degree of initial metabolic decompensation and the duration of the remission phase in type I diabetes mellitus.

In 21 newly diagnosed children with type 1 diabetes mellitus initial hemoglobin A1c-concentrations, mean insulin requirements during the first 10 days of treatment to recompensate carbohydrate metabolism, duration of glucosuria after diagnosis and duration of remission were determined. Initial hemoglobin A1c-concentration and both mean insulin requirement during the first 10 days of treatment and duration of initial glucosuria showed a highly significant positive correlation. A highly significant, negative correlation was found between the duration of remission and both the mean insulin requirement during the first 10 days of treatment and the duration of initial glucosuria. Thus the present results together with previous findings suggest that the severity of initial metabolic decompensation in diabetes mellitus type I seems to determine at least in part the duration of remission.

Adolescent↗
PubMed1981

[Haemolysis as initial sign of Clostridium perfringens septicaemia in newborn (author's transl)].

Cases of Clostridium perfringens, septicaemia are subject to a very gloomy prognosis in adults. This applies likewise to the rare cases reported in paediatric literature. The present report describes the fatal case of a newborn with Clostridium perfringens septicaemia. The principal sign was a severe haemolysis which failed to respond to blood exchange transfusions and antibiotic treatment. The characteristic changes of colour of the skin usually observed in septicaemia of newborn had probably been masked for some time by the reddish discolouration caused by the haemolysis, so that diagnosis was established at a late stage only.

Anemia, Hemolytic↗
PubMed1980

Cyclophosphamide cardiotoxicity.

A 12-year-old boy with aplastic anemia developed severe but reversible cardiac failure after treatment with 200 mg/kg cyclophosphamide (4 x 50 mg/kg on four consecutive days) given as preparation for bone marrow grafting. This and previously reported cases demonstrate the possibility of cardiotoxicity after high doses of the drug.

Anemia, Aplastic↗
PubMed1980

Donor cell leukemia after bone marrow transplantation in the Friend leukemia in mice.

After lethal irradiation (800 R) Friend virus (FV-P)-infected leukemic DBA/2 mice were transplanted with normal bone marrow cells. Isogeneic transplantation led to an immediate relapse of leukemia. Therefore, allogeneic bone marrow cells were taken from almost FV-P resistant C57BL/6 mice. A measure of leukemia development was given by the number of erythropoietin-independent erythroid colonies (CFU-EI) in bone marrow and spleen, characteristic for the Friend leukemia. Even after allogeneic transplantation leukemia recurred after 5 to 19 days. By an electrophoretic analysis of the hemoglobin, it could be shown that the transformed erythropoiesis was donor derived. Thus, marrow of C57BL/6 origin loses its FV-P resistance in allogeneic leukemic lethally irradiated recipients and is transformed by the surviving virus.

Animals↗
PubMed1980

Haemoglobin A1c: a predictor for the duration of the remission phase in juvenile insulin-dependent diabetic patients.

Increased HbA1c concentrations in diabetic patients indicate retrospectively a poor metabolic control during the preceding 2-3 months. In the present study attempts have been made to use the HbA1c concentration at the time of diagnosis as an indicator of the duration of the remission phase in 23 juvenile diabetic children. The regression analysis revealed a significant negative correlation between the initial HbA1c concentrations and the duration of the remission phase defined as no glucose excretion, an insulin requirement of less than 0.5 U/kg/day and detectable serum C-peptide concentration (r =- 0.84, p < 0.001). The results suggest that the initial HbA1c concentration may serve as a useful indicator to predict the duration of the remission phase in juvenile-onset diabetic patients.

Adolescent↗