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Biomedical subjects

C Stoll

Publications and source records attributed to C Stoll.

At least 253 records · Page 14Linked to original sources

[Clinics and genetics of Glanzmann's thrombasthenia (author's translation)].

Glanzmann's thrombasthenia begins in infancy. The most important clinical signs are cutaneous and mucous hemorraghes (purpura, epistaxis, bleeding gums, menorraghia after puberty). The disease proceedes by alternate periods of activity and remission, the frequency and severity of which decrease with age. Death occurred during any of the attachs. Our 10 cases (7 girls, 3 boys) were in 5 "Manouche" gypsies sibships, interrelated by consanguineous marriages. Genetic studies demonstrated that the disease was inherited in the autosomal recessive pattern. The detection of heterozygotes is now possible with an antibody which appeared in a thrombasthenic patient. This antibody agglutinated the normal platelets, but not the ones of thrombasthenic patients. In heterozygotes the agglutinating effects is intermediate between the homozygote and normal.

Adolescent↗

Effect of vincristine on sister chromatid exchanges of normal human lymphocytes.

In vitro analysis of the mitosis from 3-day lymphocyte cultures from two normal males and two normal females treated with bromodeoxyuridine and stained with acridine orange after addition of vincristine during different times demonstrated that vincristine inhibits the progression of the second division. When the second division progressed, the number of sister chromatid exchanges was significantly decreased. Vincristine could act by inhibiting the copying of DNA. A dosage effect is demonstrated when vincristine is added to the cultures during the first 24 hr.

Cells, Cultured↗

Ring chromosome 15:r(15). Identification by R banding.

Upon investigating the mental retardment of a small girl who was not dysmorphic, a ring chromosome D was discovered. Thermic moderate denaturation enabled us to confirm it as being an r(15). The r(15) syndrome scarcely affects the phenotype. On the other hand, height is consistently reduced.

Child, Preschool↗