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Biomedical subjects

J Zaremba

Publications and source records attributed to J Zaremba.

At least 55 records · Page 3Linked to original sources
PubMed1979

Chronic form of childhood spinal muscular atrophy. Are the problems of its genetics really solved?

The authors discuss the differences between the two large series of chronic childhood spinal muscular atrophies (SMA)--their own comprising 273 cases, and that of Pearn et al. comprising 141 cases. The main difference concerns the predominance of males in the clinically milder later-onset group in the present series. The data of Pearn et al. (1978a, b) are quite different. The reason for the discrepancies is apparently a different selection of material. The present material is highly selective in favour of chronic cases, and Kugelberg-Welander cases are well-represented, whereas the percentage of Kugelberg-Welander cases in the material of Pearn et al. was very small. Differences in selection also appear to be responsible for discordance in observations regarding influence of sex on the course of the disease. The present data seem to support the view that most of the cases revealing chronic forms of SMA (both mild and severe) are not distinct genetically. However, the possible existence of a distinct subgroup in which sex influence is strongly expressed is not excluded.

Adolescent↗
PubMed1979

Hereditary neurocutaneous angioma: a new genetic entity?

A family pedigree with a possible new genetic syndrome characterised by the presence of angiomas, systemic in nature, affecting particularly the skin and the central nervous system, is described. Angiomas of the CNS seem to have a marked tendency to bleed. The condition shows a clearly dominant mode of transmission, four subjects in three generations being affected. Differentiation from other conditions belonging to the vascular abnormalities subgroup of phakomatoses is presented.

Arteriovenous Malformations↗
PubMed1978

Jadassohn's naevus phakomatosis: I. A report of two cases.

Two typical cases of Jadassohn's Naevus Phakomatosis are reported, with full clinical details, history and the results of investigations. Neurosurgery was necessary in one case so that the macroscopical appearance of the brain and histological findings of portions of the brain removed are described.

Adolescent↗
PubMed1977

Functional characterization of cells separated from suspensions of Hodgkin diseases tumor cells in an isokinetic gradient.

Suspensions of cells from Hodgkin disease tumors were separated by velocity sedimentation in an isokinetic Ficall gradient. The separated cells were cultured with mitogens. The modal population of lymphocytes from the tumor contained 50%-75% of all lymphocytes separated from the tumor of each studied patient. Despite the fact that these cells appeared to be mature lymphocytes, the majority of which formed nonimmune E rosettes with sheep red blood cells, they showed a lack of responsiveness to phytohemogglutinin which was almost complete in all but one patient. Lymphocytes which had been obtained in suspension and purified by identical methods from tonsils and spleens without tumors did respond to stimulation by phytohemagglutinin.

Cell Separation↗
PubMed1976

Genetic investigations on chronic forms of infantile and juvenile spinal muscular atrophy.

A material of 247 cases selected from 260 cases of spinal muscular atrophy in the Warsaw Department of Neurology in 1960-1974 was analyzed. The size of sibships was established and calculations were made of the mean distribution of the age at onset, also according to sex, for the different clinical forms, genetical proportions by the method of siblings and of probands, and coefficient of sib-sib correlation for the material as a whole and separately for males, females and male-female pairs. The analysis shows the course of the disease to differ between the sexes and to be mild in males more often than in females, as is particularly noticeable in the higher age groups. Cases of Kugelberg-Welander's disease are predominantly male. The hypothesis is advanced that a proportion of male patients have a sex-linked modifying gene of a fairly high frequency (possibly of the range of 1 in 5 males, and 1 in 25, in the homozygous state, in females). Although it would not disprove conclusively the nosological distinctness of different forms of infantile and juvenile spinal muscular atrophy, the existence of the modifying gene, if proved, would tend rather to add to the likelihood of their constituting a single recessive autosomal disease.

Adolescent↗