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Biomedical subjects

K Kubat

Publications and source records attributed to K Kubat.

32 records · Page 2Linked to original sources
PubMed1986

Features of a syndrome with congenital cataract and hypertrophic cardiomyopathy.

We studied 12 patients from six unrelated families with a syndrome that has an autosomal recessive pattern of inheritance and can be diagnosed from clinical, histologic, and biochemical characteristics. The four major symptoms are congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy of voluntary muscles, and exercise-related lactic acidosis. The patients had bilateral and total cataract in the first weeks of life, underwent cataract surgery, and developed nystagmus and strabismus. Corrected visual acuity was lower than 20/40 in aphakic eyes. Patients were mentally normal, and at school age they visited a school for blind and visually impaired children. The majority of the patients developed axial myopia with myopic fundus changes; aphakic refraction usually was lower than 10.0 diopters after the first decade. The cardiac myopathy was progressive and the cause of premature death. Three of the 12 patients died in the neonatal period and six patients died in early adulthood.

Acidosis, Lactic↗
PubMed1986

The usefulness of an endomyocardial biopsy in heart disease of unknown etiology.

Light-, electron microscopic and enzyme histochemical examinations (phosphorylase, LDH, NADH:TR, SDH and 3-HBDH) were performed on endomyocardial biopsies of 26 patients with heart diseases of unknown etiology. On the basis of the clinical findings the patients were grouped into hypertrophic cardiomyopathy patients), dilated-congestive cardiomyopathy (8 patients), latent cardiomyopathy and small vessel disease (11 patients) and myocarditis (4 patients). Morphologic changes which might characterize the pathogenesis, were found in 7 patients: small vessel disease in 3 patients, nonspecific myocarditis in 1, iron storage disease in 1, adriamycin cardiomyopathy in 1 and cardiomyopathy with inclusions typical of Fabry's disease in 1 patient. In the other patients the morphologic changes were not sufficiently characteristic to be indicative of an etiopathogenesis. Several pathologic alterations did, nonetheless, appear to have a certain prognostic value such as endocardial and interstitial fibrosis, myofibrillolysis, myolysis, mitochondrial degeneration and increased lipid content in the muscle fibers. The frequency of these changes was evaluated partly semiquantitatively, partly by means of the point-counting method and graded with 1-3 points. Three patients with congestive cardiomyopathy scored at least 7 points. Two of them died within 8 weeks, 1 patient with adriamycin cardiomyopathy recovered after discontinuation of the therapy but he died 4 years after the biopsy. Six to 50 months after the biopsy (mean 31.5, median 6.5) the score was less than 7 in the other patients and all these patients were still alive. The histochemical changes manifested as an increase and/or a decrease of the enzymatic activities, involving scattered muscle fibers or their segments. A decrease of the activities of all dehydrogenases examined appeared to be prognostically ominous, correlating with a score of 7 or higher. A decrease of SDH activity in 7 cases, in combination with a decrease of the HBDH activity in 4 of them, was indicative of a disturbance in the Krebs cycle and lipid metabolism in the absence of ischemic damage. The alterations in the phosphorylase activity did not, however, appear to have a prognostic significance. Normal activity of the phosphorylase seemed to be prognostically favorable.

Adolescent↗
PubMed1985

Hypertrophic cardiomyopathy associated with a mitochondrial myopathy of voluntary muscles and congenital cataract.

Structurally abnormal mitochondria were found in skeletal muscle cells from a woman with hypertrophic cardiomyopathy and myopathy of voluntary muscles associated with congenital cataracts. Moderate exercise resulted in lactic acidosis. Oxidation of pyruvate and other substrates and the production of adenosine triphosphate were normal in vitro. A younger brother of the patient had had congenital cataract and had died from hypertrophic obstructive cardiomyopathy.

Adolescent↗
PubMed1984

[Primary carcinoid of the middle ear. A case report with reference to light and electron microscopy findings].

A rare case of carcinoid tumour of the middle ear in a 51-year old woman is presented. The clinical features and the light and electron microscopical appearances are discussed. Carcinoid tumour should be included in the differential diagnosis when tumours of the middle ear present with adenomatous pattern. Electron microscopy will identify characteristic intracellular neurosecretory granules. Formaldehyde-induced fluorescence corresponding to the pattern of distribution of these granules confirms the diagnosis of carcinoid tumour.

Carcinoid Tumor↗
PubMed1983

Plasmodium berghei: a mouse model for the "sudden death" and "malarial lung" syndromes.

A mouse model for the "sudden death" and "malarial lung" syndromes is described. Mice of the C3H/z strain succumb suddenly approximately 7 days after an infection with Plasmodium berghei becomes patent, at a time when parasitemia is still moderate (6 to 8%). Death could be shown to be due to anaphylactoid shock, probably induced by soluble immune complexes. Increased vascular permeability caused transudation and leakage of serum proteins into the interstitium and the alveoli. The lungs were found to be edematous, with a fine granular precipitate in the alveoli and adherent to the vascular walls. The precipitates reacted with antiglobulins G and M, and could be shown to also contain malaria antigens and C3/4. A dramatic drop in hematocrit was recorded several hours before death, indicating the sudden release of malaria antigens. The myocardium of animals that had died very suddenly showed a patchy loss of phosphorylase activity. This loss of activity was much more extensive, and sometimes almost total, when there had been an agonal period of several (1 to 3) hours before death. In these cases the irreversibility of the myocardial damage was also indicated by the loss of activity of the dehydrogenases, as well as by typical inflammatory reactions of granulocytic and histiocytic infiltrations. The hearts thus presented a typical picture of the acute and peracute shock syndromes. In acute shock cardiac insufficiency develops so suddenly that death ensues before irreversible damage has occurred, and cardiac insufficiency can only be demonstrated by the most sensitive of enzyme histochemical means. In the present case shock was induced by the anaphylactoid activity of immune complexes with the lung as target organ. The described syndrome appears analogous to human "malarial lung."

Animals↗
PubMed1978

Peracute and acute death from ischaemic heart disease within 4 days of onset of symptoms.

Post-mortem examination was made of 136 patients who died of ischaemic heart disease from within a few minutes to 4 days after the onset to symptoms. Acute myocardial infarction was detected by means of the histochemistry of dehydrogenases in 102 cases (75%); in 34 cases(25%) no infarction was found, but the presence of coronary obstruction together with clinical symptoms justified the diagnosis of acute coronary insufficiency. Fifty-six of the infarctions occurred within 2--3 h after the onset of ischaemia, 24 within 4--5 h, 12 within 6--24 h, and 10 within 1--4 days. The chances of recovery increased if the patients survived for 24 h. The period of 5 h after the onset of ischaemia appeared especially important; 80 of 102 patients with acute myocardial infarction died during that period. Thirty-one of 34 patients with acute coronary insufficiency and 60 of 102 patients with acute myocardial infarction died peracutely, i.e. within a few minutes to 2 h after the onset of symptoms. In the patients of the latter group the onset of symptoms must have been delayed, otherwise none of these patients could have appeared in the category of peracute death. This delay was more obvious in the patients with acute myocardial infarction localized in the area supplied by the left descending artery. The occurrence of peracute deaths could not be correlated witha particular localization of area of infarction. The causes of coronary obstructions and the role of dynamic disturbances of coronary perfusion in the pathogenesis of coronary insufficiency and myocardial infarction and discussed.

Adult↗