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Biomedical subjects

E Kleihauer

Publications and source records attributed to E Kleihauer.

At least 55 records · Page 3Linked to original sources
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↗
PubMed1984

[Molecular mechanisms of antibody synthesis].

Antibodies or immunoglobulins play a central part in the immune system. The basic unit of an antibody is composed of two identical light and two identical heavy chains; each chain contains two functionally and structurally distinct regions: an amino-terminal variable or antigen-binding site, and a carboxy-terminal constant region responsible for immunological effector functions. Thanks to recombinant DNA technology the paradox of a limited number of genes and a virtually unlimited capacity to generate specific antibodies has now been resolved at least in outline. Immunoglobulin chains are encoded in multiple gene segments of three unlinked gene families scattered along chromosomes 2 (kappa light chain), 14 (heavy chain) and 22 (lambda light chain). During B-cell differentiation these genes are assembled by somatic recombination mechanisms to form active genes. The enormous diversity generated by means of DNA rearrangements is supplemented by mutations somatically introduced into variable region sequences. The medical impact of these discoveries will be substantial. Possible applications include identification of B-cell precursors lacking conventional markes, a molecular classification of lymphomas and a precise distinction between monoclonal and polyclonal lymphoproliferative disorders.

Amino Acid Sequence↗
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

Treatment of idiopathic thrombocytic purpura in pregnancy by high-dose intravenous immunoglobulin.

ITP in pregnancy may lead to fetal thrombocytopenia caused by the transplacental passage of maternal antiplatelet antibody. The most hazardous complication in the infant is intracranial hemorrhage. In addition ITP in pregnancy is reported to be associated with an increased abortion rate and an elevated fetal morbidity and mortality. Therefore obstetric management must aim at increasing maternal and fetal platelets. Several therapeutic approaches to the treatment of ITP in pregnancy are evaluated. Two cases of ITP in pregnancy are reported. Administration of high-dose intravenous immunoglobulin is introduced as a new therapy for ITP in pregnancy. The rapid reversal of thrombocytopenia following immunoglobulin G administration suggests that it is useful especially as emergency treatment for ITP in pregnancy.

Adult↗
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

Critical analysis of granulocyte function in 154 patients wtih different diseases.

Several granulocyte functions were analyzed in vitro in 154 patients with chronic or recurrent infections, as well as in a variety of disorders known or suspected to affect host resistance. Only a few specific abnormalities were diagnostic and occurred in congenital, hereditary disorders. Opposed to these permanent changes are those which were probably acquired or transient and are often multifactorial in origin. In the majority of these patients, an inconstant and nonspecific pattern emerged which is not helpful in the diagnosis of underlying disease. In selected patients, however, and as research procedures, these and related tests should be helpful in elucidating the basic functions of granulocytes and may implicate therapeutical approaches.

Adolescent↗
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

The preleukemic syndromes (hematopoietic dysplasia) in childhood.

The preleukemic syndrome or hematopoietic dysplasia is a marrow stem-cell disorder with clinically recognizable hematologic abnormalities which precede the development of acute nonlymphocytic leukemia. Its occurrence in childhood is extremely rare; seven "true" cases who fulfill all the criteria for the disorder have been reported until now. The preleukemic syndrome is generally characterized by peripheral cytopenia with fairly specific morphologic abnormalities in cell differentiation. The hematological and clinical features permit recognition of preleukemia even before the development of overt leukemia. Experimental data indicate that preleukemia is an "early" leukemic syndrome in which hematopoietic cell differentiation becomes progressively impaired with termination in the nearly complete maturation block which is characteristic of acute myelogenous leukemia.

Age Factors↗
PubMed1980

[Kawasaki syndrome--a new disease?].

Kawasaki recognized in 1967 the acute febrile mucocutaneous lymph node syndrome (MCLS) as a well defined entity among a variety of hitherto unidentified atypical exanthems. The etiology is uncertain. There are close relations to infantile polyarteritis nodosa (IPN) which is probably the severe variant of Kawasaki's disease. Histologically it is a generalized necrotizing vasculitis, most probably caused by circulating immune complexes. The disease is supposed to be initiated by various infections in patients with certain predispositions. Considerations about etiology and pathogenesis as well as relations to IPN are mainly discussed theoretically. Therefore it is recommended to investigate the Kawasaki syndrome following a devised protocol.

Bacterial Infections↗
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↗
PubMed1980

Rhesus incompatibility and aplastic anemia as the consequence of split chimerism after bone-marrow transplantation for severe combined immunodeficiency.

A patient with severe combined immunodeficiency received three transplants of bone marrow from the HLA-B- and -D-identical mother. The first transplantation led to a severe graft-versus-host reaction followed by immunological reconstitution. A split chimerism was found with engraftment only of the maternal lymphocytes. Five months after the transplantation an autoimmune hemolytic anemia was observed which was due to rhesus incompatibility as well as polyspecific antibodies. At the same time agranulocytosis developed and 9 mth after the first transplantation the child suffered from aplastic anemia. Two further attempts failed to engraft the maternal hematopoiesis. The child died during the treatment with cyclophosphamide as conditioning for a third transplantation.

Agranulocytosis↗