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Biomedical subjects

H Hyniová

Publications and source records attributed to H Hyniová.

10 recordsLinked to original sources
PubMed1986

A new variant of sphingomyelinase deficiency (Niemann-Pick): visceromegaly, minimal neurological lesions and low in vivo degradation rate of sphingomyelin.

Three males (aged 10 years, 3 years 9 months and 2 years 8 months) with profound sphingomyelinase deficiency are presented. The sphingomyelin storage in the liver biopsies attained 30-fold, 65-fold and 16-fold increases against controls, respectively. Levels of bis(monoacylglyceryl) phosphate were also increased. In two cases the bone marrow contained foam cells with liquid crystals of sphingomyelin. Besides the visceral involvement dominated by hepatosplenomegaly, all three cases showed discrete, so far stationary (8 years, 42 months and 28 months) neuropathic features and retinal lesions resembling the classical cherry-red spot. Electrophysiological examinations showed a variable reduction of peripheral nerve conduction velocity and prolongation of the latencies of somatosensory, visual and auditory evoked potentials. Ultrastructural examination of skin nerves showed a slight storage, mainly in Schwann cells. In some myelinated fibres there were pseudomyelinic ovoids. The cases therefore displayed features of both A and B types of sphingomyelinase deficiency and should be conventionally classified as intermediate. However, the very low levels of in vivo sphingomyelin hydrolysis (not exceeding 6%, against 30 +/- 10% in type B and 77 +/- 5% in controls) were clearly within the range of type A values (5 +/- 2%). Accordingly, we suggest that the cases may be biochemically classified as variants of type A disease.

Child↗
PubMed1984

Liver findings in Niemann-Pick disease type C.

A complex analysis of liver from a series of eight cases of Niemann-Pick disease type C showed practically generalized storage of glycolipids and phosphoglycerides by chemical and histochemical techniques. In six of the eight cases the storage process was of low degree, barely recognizable by routine histology, but well recognizable by histochemistry and electron-microscopy. In two cases it was marked and led to early functional impairment of the liver. Changes in various enzyme activities and in ultrastructural features of the storage process are described. Sphingomyelin was found to participate to a very low low degree and its accumulation was not proportional to the extent of overall storage. In two cases with prominent involvement of the liver normal levels of sphingomyelin were found. In other cases sphingomyelin was found, by lipid histochemistry, to be stored only in macrophages. To stress that the storage process in Niemann-Pick disease type C is qualitatively different a comparison was made with liver findings in sphingomyelinase-deficient patients. This feature is of practical as well as theoretical importance.

Acid Phosphatase↗
PubMed1977

[Correlation of clinical and anatomical findings in childhood meningitis].

Clinical and anatomical findings of 76 prophylactically not irradiated children with acute leukaemia were compared. In the group of 17 children (22%) with clinically manifest symptoms of CNS involvement in the course of the illness leukaemic infiltrates were identified in the CNS at the autopsy and during histopathological examinations even in 70% in spite of clinical healing and normalization of the cerebrospinal fluid finding. In children who had either no clinical symptoms of CNS leukaemia (42 children) or only terminal symptoms in the last 24 hours of their life (17 children) leukaemic infiltrations were found in 25.4% of the cases. Non-myeloid types showed 44.5% of histopathological changes, myeloid types 22.7%. Clinical main symptoms and anatomical findings were correlated to the corresponding groups of patients and typical illustrations were added.

Acute Disease↗
PubMed1976

Prognostic criteria and staging in ALL in childhood.

On the basis of a retrospective review of 100 children with acute non-myeloid leukaemia the authors examined the effect on the prognosis of some initial features such as age, nodal and organ enlargement, initial white blood cell count, blast morphology and cytochemical characteristics, and platelet count. A remarkable correlation was found between age at diagnosis, initial white blood cell count and platelet count, and total survival and duration of remission. There was no significant correlation between PAS score and prognosis. The beta-glucoronidase reaction did not prove a useful index of prognosis. Adverse prognostic factors were an age below 2 or one above 10 years, a high initial white blood cell count and a low platelet count. The usefulness of attempts at staging in acute lymphoblastic leukaemia in childhood are discussed together with the predictive value of some features present at disgnosis.

Adolescent↗