ABSTRACT
Las normas de regulación de la fertilidad, propuestas en el documento del Ministerio de Salud de Chile, plantean diversos problemas biomédicos en el contexto de una cierta visión de la procreación humana, de la sexualidad y de la familia. Hay serias objeciones desde una antropología que respeta la naturaleza personal de la mujer y del hombre, especialmente en el riesgo que existe en la promoción de métodos que podrían afectar la vida de seres humanos inocentes en sus etapas iniciales de desarrollo. Del análisis de la literatura se ha concluido que existen antecedentes científicos importantes, que se analizan en este documento, y que indicarían que el uso de la llamada píldora del día después podría estar poniendo en riesgo la vida del embrión humano preimplantacional.
Fertility regulation rules, proposed by the Chilean Health Ministry, involve several biomedical problems within the context of a given view point of human procreation, human sexuality and family. There are serious objection from an anthropology that respects the personal nature of woman and man, particularly in the danger that the life and survival of preimplantational human embryo could be affected by such methods. From an exhaustive analysis of the scientific literature, that are discussed in this document, it was concluded that the so called emergency contraception pill could be jeopardizing the life and survival of the preimplantation human embryo.
Subject(s)
Humans , Female , Contraception, Postcoital/ethics , Contraceptives, Postcoital , Levonorgestrel , Abortion , Chile , Embryonic Structures , FertilizationABSTRACT
The Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive disorder associated with microcephaly, immunodeficiency, chromosome instability and cancer proneness. The mutated gene that results in NBS codes for nibrin (Nbs1/p95), a DNA repair protein that is functionally linked to ATM, the kinase protein product of the gene responsible of ataxia-telangiectasia (A-T). We report the clinical, cytogenetic and molecular characterization of a second case of NBS in Chile detected by us. The patient is a 7 years old Chilean boy from a consanguineous marriage, with microcephaly, immunodeficiency and acute non lymphocytic leukemia (ANLL). As NBS shares chromosomal and cellular features with A-T, the cytogenetic studies of this patient also included 3 A-T patients. Our results showed that the frequency of spontaneous and X rays induced chromosomal aberrations in NBS are higher than in A-T cells. DNA analysis revealed that the patient is homozygous for the Slavic mutation 657del5 in the NBS1 gene. This finding and the absence of nibrin in patient's cells, confirmed the clinical diagnosis of NBS in our patient.
Subject(s)
Humans , Male , Child , Ataxia Telangiectasia , Chile , SyndromeABSTRACT
Background: In ataxia telangiectasia (A-T), the lack of a functional ATM kinase is associated with disturbances in the processing of DNA damage and a chronic oxidative stress. These disturbances may be responsible for an increment of chromosomal damage in A-T cells. Aim: To study the in vitro effect of vitamin E (DL-a-tocopherol) on the frequency of chromosomal damage of lymphocytes from patients with A-T. Patients and methods: Seven patients with A-T and age-sex matched controls were studied. Chromosomal damage in mitosis was evaluated in lymphocytes cultures both under basal conditions and when G2 repair was prevented by 5 mM caffeine. Results: In cells from patients with A-T, vitamin E induced a 57.1 and 47.9 percent decrease in chromosomal damage under basal and inhibited G2 repair conditions, respectively. However, there was a non significant improvement in their repair activity. Vitamin E effects on chromosomal damage was not significant in control subjects. Conclusions: Vitamin E reduces chromosomal damage in lymphocytes from patients with ataxia telangiectasia
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Vitamin E , Ataxia Telangiectasia , In Vitro Techniques , Lymphocytes , Case-Control Studies , Chromosome Aberrations , CaffeineABSTRACT
En el manejo clínico de los niños Down, el médico pediatra cumple un rol muy importante junto con otros profesionales del área de salud y educación mejorando significativamente la calidad de vida de estas personas
Subject(s)
Humans , Patient Care Team , Down Syndrome/therapy , Heart Defects, Congenital/etiology , Cataract/congenital , Child Development , Genetic Counseling , Deafness/etiology , Tooth Eruption , Hypothyroidism/etiology , Leukemia/etiology , Seizures/etiology , Down Syndrome/complications , Down Syndrome/geneticsABSTRACT
Se describe el caso clínico de un lactante con dismorfias craneofacilaes, hepatomegalia, quistes renales y disfunción neurológica severa. Los exámenes de rastreo para aminoacidemia, aminoaciduria, ácido láctico y amonio dieron resultados normales, pero había altas concentraciones plasmáticas de ácidos grasos de cadena muy larga, distribución subcelular anormal de la catalasa peroxisomal y fantasmas peroxisomales en fibroblastos cultivados. Estas características clínicas y de laboratorio sustentan el diagnóstico de síndrome de Zellweger
Subject(s)
Humans , Male , Infant, Newborn , Microbodies/metabolism , Zellweger Syndrome/diagnosisABSTRACT
Acute lymphoblastic leukemia (ALL) is the most frequent childhood cancer. The leukemic cells of ALL patients show several well defined numeric and structural chromosomal abnormalities which are universally known for its prognostic implications. We studied a group of 44 children with ALL, to investigate the incidence of chromosome aberrations in ALL, its lymphocyte lineage and some clinical feature associations, ans the finding of non previously described aberrations. A high proportion of patients (79.5 per cent) showed chromosomal abnormalities. Most of them had a pseudodiploid karyotype (46 chromosomes), characterized mainly by a translocation. In relation to chromosome number, 27 percent of them were hyperdiploid with more than 50; 9 percent hyperdiploid between 47 - 50 and 7 percent hypodiploid (less than 46). Among structural aberrations found, were the following recurrent translocations: t(1;19), t(4;11), t(9;22) in 6.8 percent, 9.1 percent and 2.3 percent of cases respectively, all related to an early B immunophenotype. Other translocations found, compromised regions 7q22,9p21 -24. Two new translocations in ALL were found: 8(1;5)(q23;q33), apparently balanced and t(13;21)(q14;q22), unbalanced. Other recurrent structural changes found were: deletion (6q), (7q), (7q), (11q), (12q), inversion (3q), isochromosome (7q), maker chromosomes and double minutes. The distribution of chromosome abnormalities in this group of patients was in agreement with previous reports from other investigators