Search PubMed⌕ Search

Biomedical subjects

W Wertelecki

Publications and source records attributed to W Wertelecki.

At least 73 records · Page 4Linked to original sources
PubMed1980

Relationship of SV40 T-antigen expression in vitro to disorders of bone marrow function.

Skin fibroblasts from patients with a variety of hematologic disorders were infected with SV40 virus in vitro in attempts to discover the reason for increased susceptibility of Fanconi anemia cells to this transforming virus. The proportion of skin fibroblasts expressing SV40 T-antigen by immunofluorescent methods was elevated in 12 patients with Fanconi anemia and in seven of nine obligate heterozygous relatives. Elevated expression was also observed in three patients with other hematological disorders at high risk of acute non-lymphocytic leukemia, but was not apparent in seven sporadic aplastic anemia patients or four of their relatives. T-antigen expression was elevated in about one-half of patients with thrombocytopenia-absent radius syndrome and related conditions, with familial aplastic anemia, and in their normal relatives. In the conditions under study, elevated T-antigen expression seemed clearly correlated with predisposition to leukemia, which may be genetically determined, but it was not associated with cytogenetic or anemic manifestations.

Anemia↗
PubMed1980

Absent d triradius and dotting of the ridges in siblings.

Absent d triradii were found in 2 sibs of a family of African ancestry. 1 of the sibs exhibited not only bilateral absence of d triradius but also bilateral absence of axial triradii. The other sib lacked d triradius in the left palms. All 5 sibs of the sibship showed, to some degree, dotting or dissociation of the ridges. The present results support the suggestion of genetic transmission of both absent d triradius and dotting of the ridges.

Africa↗
PubMed1979

Cytological analyses of 14p+ variant by means of N-banding and combinations of silver staining and chromosome bandings.

An inherited human karyological variant (14p+) has been studied with a number of cytochemical techniques. The short arm of this variant chromosome 14 is nearly as long as the long arm, giving the chromosome a submetacentric to metacentric appearance. In conventionally Giemsa-stained preparations, maximum of three secondary constrictions can be observed the marker arm. The secondary constrictions are silver-positive in Ag-NOR preparations. However, the entire arm stains deeply in N-banded preparations. The 14p+ arm is also Q-negative, C-negative, G-negative, and R-positive with an almost homogeneous texture. The difference between N-banding and silver staining is interpreted as the result of gene activities of the ribosomal cistrons.

Azure Stains↗
PubMed1979

Congenital abnormalities: "is it wise to have another child?".

Congenital abnormalities affect some five per cent of all live births, and are a major factor in childhood morbidity and mortality. Most physicians, therefore, encounter a variety of developmental disorders, and must frequently deal with problems faced by a handicapped patient and his family. This task is becoming increasingly difficult with the growth and sophistication of genetic knowledge and changes in society's attitude toward medical practice. Although congenital abnormalities are classified according to a variety of presumed genetic or environmental 'causes', it is important to remember that most developmental disorders result from complex interactions of genes and environment, and that time is an important factor. Optimal understanding of a congenital defect may, therefore, be best achieved by study of a patient within the wider context of his family. The family history is one of the most powerful tools available in establishing a diagnosis and in answering parents' questions concerning prognosis and recurrence risk. Ultimately, however, decisions based on genetic counselling must be made by the parents themselves, within the context of their own fears, beliefs and aspirations.

Chromosome Aberrations↗
PubMed1976

Dermatoglyphic investigations in twins and siblings.

The present report describes the preliminary results of an extensive dermatoglyphic investigation among 491 pairs of MZ and DZ twins, and sibs of both sexes. Paired homolateral comparisons were performed for the determination of the degree of discordance for each dermatoglyphic trait and the results were presented in a series of histograms. Some of the outstanding points brought forth by this study are: (1) different dermatoglyphic traits at different digits or palmar areas have different degrees of discordance; (2) in MZ twins the frequency of discordance for each trait is constant regardless of sex or laterality, whereas in DZ twins and sibs both sex and lateral differences are observed; (3) the higher number of significant differences in concordance between the MZ twins vs. sibs than between MZ vs. DZ twins suggests that, at least in the female, the dermatoglyphics may be affected by changing intrauterine environments.

Adolescent↗
PubMed1976

Normal and aberrant palmar creases in twins and siblings.

The present study involving MZ and DZ twin pairs, as well as paired normal sibs, was undertaken to investigate further the genetic involvement in the formation of normal palmar crease patterns, as well as simian and Sydney patterns. Two variations of normal creases were investigated: the thenar type R and the distal type I. Both types cluster in families. The R is more frequent in the females. For both types, MZ twins are more concordant than DZ twins or sibs. Sib studies suggest strong genetic involvement in the development of both the R and I crease types. Parents with simian and/or Sydney creases have more children with these traits than offspring of parents without these traits; however, concordance rate comparisons of MZ or DZ twins and sibs do not suggest strong genetic involvement as in the case of the R and I crease types.

Dermatoglyphics↗
PubMed1976

The clinical syndrome of triploidy.

The clinical syndrome associated with triploidy is quite typical but is rarely reported in near-term stillborns and newborns. The occurrence of a large placenta with areas of hydatidiform changes in combination with an edematous fetus with macroglossia, facial clefts, eye defects, dysplastic cranial bones, omphalocele, meningomyelocele, syndactyly, and, in males, genital maldevelopment is suggestive of a triploid chromosomal constitution.

Abnormalities, Multiple↗
PubMed1975

Varied manifestations of a familial lymphoproliferative disorder.

In a sibship of nine adults, four died of lymphocytic or histiocytic lymphomas, and one of Waldenström's macroglobulinemia (immunoglobulin M [IgM], kappa type) complicated by adenocarcinoma of the lung. In the next generation, one member died of Hodgkin's disease; four of nine healthy persons had impaired lymphocyte transformation in vitro in response to phytohemagglutinin-P (PHA-P), and three of these had polyclonal elevations in IgM levels. Subsequent to these observations, adenocarcinoma of the lung developed in one woman with immune defects, and lymphocytic leukemia developed in her 3 year old grandson. The findings in this family point to a genetically regulated defect of immunity expressed as diverse lymphoproliferative disorders, including polyclonal and monoclonal IgM gammopathies. The occurrence of pulmonary adenocarcinoma in two members suggests genetic and immunologic determinants in these instances.

Adenocarcinoma↗