RESUMO
The circulating lymphocytes of patients treated for cervical cancer were examined by four independent manners: by evaluation of T-cell proportion in peripheral blood, proliferative response upon PHA stimulation, PHA-induced leukocyte migration inhibition, and by concomitant chromosome aberration frequency. The immediate and longer-term effects of pelvic irradiation on T lymphocytes were investigated in 19 patients prior to, during, and immediately after radiotherapy, and then at subsequent intervals of two, three and five months. Radiotherapy caused profound depression of already diminished T-cell number and their proliferative response; both parameters gradually recovered during post-treatment period, and achieved their pretreatment values at the end of follow-up. The leukocyte migration inhibition was much less affected; it slightly deteriorated in the middle of post-treatment period, but reached the pretreatment level at the end of monitoring. The chromosome aberration frequency increased during irradiation in dose-dependent manner; it decreased gradually thereafter, but remained high during follow-up. Their elimination rate correlated with the recovery of T-cell number and proliferative response. However, at the end of monitoring, when all immunological parameters were completely recovered from harmful effect of irradiation, the percentage of chromosome aberrations remained high (12.5%), although significantly lower than the post-treatment one.
Assuntos
Cromossomos Humanos/efeitos da radiação , Neoplasias Pélvicas/imunologia , Neoplasias Pélvicas/radioterapia , Linfócitos T/imunologia , Linfócitos T/efeitos da radiação , Neoplasias do Colo do Útero/imunologia , Neoplasias do Colo do Útero/radioterapia , Adulto , Idoso , Inibição de Migração Celular , Aberrações Cromossômicas , Feminino , Seguimentos , Humanos , Ativação Linfocitária/efeitos da radiação , Contagem de Linfócitos/efeitos da radiação , Pessoa de Meia-Idade , Neoplasias Pélvicas/sangue , Fito-Hemaglutininas/farmacologia , Linfócitos T/fisiologia , Neoplasias do Colo do Útero/sangueAssuntos
Mosaicismo , Pseudopseudo-Hipoparatireoidismo/complicações , Aberrações dos Cromossomos Sexuais/complicações , Síndrome de Turner/complicações , Adulto , Feminino , Humanos , Pessoa de Meia-Idade , Hormônio Paratireóideo/uso terapêutico , Fosfatos/urina , Pseudopseudo-Hipoparatireoidismo/tratamento farmacológico , Cromatina SexualRESUMO
Kariotype of the propositus and his father revealed a balanced reciprocal translocation between long arm of a chromosome No. 2, and the long arm of a No 19-20, so that their complements were 46, XY, t(2q-; 19--20q+). There is no connection with congenital malformations of the propositus, but his and kariotype of his father, as well as blood group pedigree of all members of his family, suggests, likewise to assertion of German and coworkers, that locus for the MN gene is on the long arm of the chromosome No 2.
Assuntos
Aberrações Cromossômicas , Cromossomos Humanos 1-3 , Cromossomos Humanos 19-20 , Sistema do Grupo Sanguíneo MNSs , Criança , Transtornos do Comportamento Infantil/genética , Citogenética , Humanos , Hipertelorismo/genética , Deficiência Intelectual/genética , Cariotipagem , Masculino , LinhagemRESUMO
Determination of chromosomal aberration in the lymphocyte cell culture of the peripheral blood in 50 children with malignant and nonmalignant diseases was the test applied in the investigation of the adverse effects of the cytostatic therapy on the human genome. The study included the cytostatic drugs cyclophosphamide, methotrexat and cytosine arabinoside which are used in the treatment for the autoimmune diseases, in organ and bone marrow transplantations and in malignant diseases. It was confirmed that these cytostatics could be the cause of considerable structural aberrations in chromosomes, particularly so when high dosages and long application are involved. Therefore it is understandable that these drugs as mutagens can be the cause of the secondary cancer in patients treated with cytostatic therapy and also of the congenital malformations in children by mothers treated with these medications.
Assuntos
Aberrações Cromossômicas , Ciclofosfamida/efeitos adversos , Citarabina/efeitos adversos , Metotrexato/efeitos adversos , Testes de Mutagenicidade , Criança , Humanos , Linfócitos/ultraestruturaRESUMO
A new case of monosomy 21 was observed in a newborn male. Characteristic clinical features include: an antimongoloid eye slants, large and low set ears, flat nose bridge, hypoplastic nipples, cardiac anomalies, muscular hypotonia, retarded psychomotor development. The karyotypes of the parents were normal.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 21 , Monossomia , Bandeamento Cromossômico , Humanos , Recém-Nascido , MasculinoRESUMO
Prenatal detection of "Cri du chat" syndrome, as the consequence of balanced translocation 46,XY,t (5, 15) (p 13, p11) of the father, is described. A phenotipically normal child, with the same type of translocation possesed by his father was born in this family, as well as a child with "Cri du chat" syndrome. Four pregnancies were termed by spontaneous abortion. In the seventh pregnancy amniocenthesis was performed. On the basis of cell culture of amniotic fluid the diagnosis of "Cri du chat" syndrome was established. The diagnosis was confirmed by culture of peripheral blood of prematurely born foetus. Tissue cultures of some fetal organs were performed in order to find the origin of amniotic cells whose culture served for screening cytogenetic analysis.
Assuntos
Aberrações Cromossômicas , Síndrome de Cri-du-Chat/genética , Translocação Genética , Amniocentese , Síndrome de Cri-du-Chat/diagnóstico , Feminino , Humanos , Cariotipagem , Masculino , Linhagem , Gravidez , Diagnóstico Pré-NatalRESUMO
The authors investigated blood groups of two cases of polisomia, and 6 cases of chromosomal aberations. While the polisomia demonstrated no abnormalities of the blood groups, three cases of the chromosomal aberation show an alteration on the chromosome 2 and atypical inheritance of the MNSs groups, confirming autosomal location of these blood groups.