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Biomedical subjects

G Buchinger

Publications and source records attributed to G Buchinger.

7 recordsLinked to original sources
PubMed1977

Phagocyte dysfunction in common variable immune deficiency.

The history of a 13-year old boy is reported who suffered from frequent bacterial, enteroviral, and protozoal infections since late infancy. A decrease in the serum levels of IgG2, IgG3, IgA, a neutrophil dysfunction, and a partial cellular immune deficiency could be demonstrated. A deficiency of folic acid produced a pancytopenia which enhanced the patient's susceptibility to infections. The combined substitution of gammaglobulins and folic acid only was able to break this vicious cycle.

Adolescent↗
PubMed1977

On the influence of age on immunity in Down's syndrome.

In 23 subjects of different ages with Down's syndrome a number of parameters of non-specific defense of humoral and cellular immunity were investigated. While in all age groups complement factors C3, C4 and C5 as well as phagocytosis and NBT indices were in the normal range, a dysgammaglobulinaemia increasing with age with a hyperglobulinaemia of the IgG, IgA and IgD types was found, sparing immunoglobulins IgM and IgE. In addition the transformation capacity of peripheral blood lymphocytes decreased with age. This is understood as the consequence of premature aging of the thymus-dependent immune system.

Adolescent↗
PubMed1977

Clinical and cytogenetic observations during a six-year period in an adult with Fanconi's anaemia.

A male adult patient suffering from Fanconi's anemia is described who was diagnosed 5 years before the onset of clinical symptoms by cytogenetic findings of chromosomeinstability in a lymphocyte culture. Repeated clinical, haematological and biochemical investigations of the untreated patient have been made during the observation period of six years. In the same period of time cytogenetic studies have been carried out which show no correlation in results compared with the clinical or physical findings. Four well defined lymphocyte clones have been discovered. The patient is still under observation of the clinic and the cytogenetic department.

Adult↗
PubMed1976

Defects in granulocyte function in various chromosome abnormalities (Down's-, Edwards'-, Cri-du-chat syndrome).

In five infants with autosomal aberrations and diminished resistance to infection (in spite of intact humoral and cellular immune mechanisms) several granulocyte functions (chemotaxis, phagocytosis, intracellular killing and metabolism of killing) were measured. A serum-dependent or a cell-dependent disturbance of phagocytosis of Candida albicans was found in two infants with cat-cry syndrome and one with trisomy 18. In one of these children there was an additional serum dependent defect of the killing of Candida albicans and of Staphylococcus aureus, serum levels of opsonins (IgG, IgM, CH50 and C3) being within normal range. An infant with trisomy 21 showed, in addition to a cellular defect of chemotaxis, a reduced cellular ability of the killing of Staphylococcus aureus and of Escherichia coli in autologous and AB-pool-serum. Phagocytosis of these bacteria remained normal.

Blood Bactericidal Activity↗
PubMed1976

[Kidney anomalies in Ullrich-Turner-syndrome (author's transl)].

Intravenous urography was performed in fourteen children with Ullrich-Turners syndrome. Renal abnormalities have been noted in twelve cases (85,7%). The most frequent kidney anomalies were malrotations (28,5%), horseshoe kidneys (21,4%) and double kidneys (21,4%). Malformations of kidney are thus a very frequent feature in Ullrich-Turners syndrome. It is therefore recommendable to perform in any case of Ullrich-Turners syndrome an intravenous urography, since these abnormalities are clinically latent.

Adolescent↗
PubMed1975

[Investigations on the Heredity of the Nephrotic Syndrome (author's transl)].

The familial nephrotic syndrome has a frequency of 3%. There are 2 types of manifestation. A malignant form with probably autosomal recessive inheritance and bad prognosis, and a benign form with the histology of mimal change disease, complete recovery and a multifactorial inheritance. According to the literature and our own calculations there is in the BRD a yearly frequency of 9--14.4 families with a familial nephrotic syndrome, based on the assumption of 300--480 new cases of nephrotic syndrome per year.

Age Factors↗