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Biomedical subjects

K Heyne

Publications and source records attributed to K Heyne.

At least 37 records · Page 2Linked to original sources
PubMed1986

[Respiratory emergency in the newborn infant: extreme laryngotracheo-esophageal cleft (esophagotrachea)].

Intra vitam diagnostic procedures revealed a complete laryngo-tracheo-oesophageal cleft in a premature infant with respiratory distress. Anamnesis together with clinical and roentgenological symptoms suggested the diagnosis of oesophageal atresia or oesophago-tracheal fistula. The diagnosis of "oesophago-trachea" was finally confirmed by laryngo-tracheoscopy. The morphologic defect in this case was combined with partial supradiaphragmatic dislocation of the stomach and with intestinal malrotation.

Diagnosis, Differential↗
PubMed1984

Glycogen storage disease type Ib: familial bleeding tendency.

A mild bleeding tendency with characteristics of the von Willebrand disease was documented in family members of a girl with glycogen storage disease type Ib (GSD) Ib). It was assumed that a defective glucose-6-phosphate dependent microsomal glycoprotein synthesis was involved in the bleeding disorder of the patient and the GSD Ib heterozygotes.

Adolescent↗
PubMed1983

Glycogen storage disease type Ib.

Glycogen storage disease type Ib has all the clinical manifestations of glycogen storage disease type Ia such as hepatomegaly, growth retardation, bleeding tendency, hypoglycemia, hyperlactacidemia, hyperuricemia, hyperlipidemia, impaired platelet function plus neutropenia. The overall glucose-6-phosphatase activity in disrupted microsomes from liver is normal whereas glucose-6-phosphate translocase, the first enzyme in the glucose-6-phosphate transport system is absent. There is no glucose-6-phosphatase activity in vivo. Recent results show that in granulocytes the glucose-6-phosphate-dependent hexosemonophosphate-shunt is impaired.

Antiporters↗
PubMed1983

Impaired metabolic function of polymorphonuclear leukocytes in glycogen storage disease Ib.

To elucidate the basis for the recurrent infections in patients with glycogen storage disease (GSD) Ib we tested polymorphonuclear leukocyte (PMN) function in one patient. Bactericidal capacity and phagocytosis-induced O2 consumption were reduced. Also, phorbol myristate acetate-stimulated superoxide production and glucose oxidation through the hexose monophosphate shunt were diminished compared to control subjects. Therefore it could be speculated that in PMN of patients with GSD Ib, glucose-6-phosphate has no access to the enzymes of the hexose monophosphate shunt due to a transport-related defect as shown for glucogenesis in hepatocytes.

Female↗
PubMed1978

[Monophylic vacuolisation of promyelocytes in Menke's-syndrome (trichopoliodystrophy) (author's transl)].

In one case of Menkes' Syndrome (Trichopoliodystrophy), a monophylic vacuolisation of myeloic cells (promyelocytes) of the bone marrow was observed. This finding correlates with an identical observation reported in medical literature, as well as with vacuolisations of metabolic active cells of the brain, musculature and skin observed in patients suffering from this disease. In the present paper, this finding is interpreted as an expression of the underlying disease and of the deficiency of oxidative cell ferment systems, and is discussed as a possible diagnostic and therapeutic criterion.

Autopsy↗
PubMed1977

Ethanolaminosis. A newly recognized, generalized storage disease with cardiomegaly, cerebral dysfunction and early death.

A storage disease with cardiomegaly, generalized muscular hypotonia, cerebral dysfunction, failure to thrive and early death is described in two siblings. The first one died at the age of 10 months, the second at the age of 17 months. The symptoms were mainly due to lysosomal storage of a substance which had a positive reaction to PAS and Best's stain and which was resistant to diastase. This substance was stored in nearly all the organs, especially in the heart, liver, spleen and less in the brain and skeletal muscles. An increased renal excretion of ethanolamine, a greatly increased hepatic concentration of ethanolamine and diminished hepatic ethanolamine kinase activity could be demonstrated. Ethanolamine is essential for the synthesis of phospholipids. Both parents showed increased renal excretion of taurine. In several aspects, this syndrome is similar to the glycogenosis type II described by Pompe.

Brain Chemistry↗
PubMed1976

[Generalized familial semibenign BCG infection, salmonella osteomyelitis and intestinal pseudotuberculosis--due to a familial defect of the macrophage system? (author's transl)].

Two siblings became very ill after BCG inoculation in the newborn period. A generalized BCG infection was assumed from the clinical symptomatology and the histological findings. Later on the boy suffered from enteric salmonellosis and osteomyelitis caused by the same organism, and as a todler he had intestinal pseudotuberculosis. Prompt recovery took place under selective antibiotic therapy. No known immunodeficiency disease could be correlated with this familial syndrome of increased susceptibility to intracellular vital microbes. A defective function of the patients macrophage system is suspected.

BCG Vaccine↗
PubMed1976

[Constitutional familial leucocytopenia with partial Pelger anomaly and delayed development of bone (author's transl)].

The clinical and hematological findings in 4 boys of a family with a chronic constitutional leukocytopenia are described. Possible X-chromosomal sex-linked genetic transmission, the benign clinical course as well as the association with clinical and cytological hints of the involvement of the lymphatic cellular immunological system suggest a disease of its own. It was classified as a mild form of myelolymphatic insufficiency similar to reticular dysgenesis. The significance of Pelger-Huët anomalies of neutrophils demonstrated in the blood of the mother and of Pelger-like forms in the blood of children are discussed.

Adult↗