RESUMEN
During routine paternity testing an apparent maternal exclusion was suggested by the PGM1 enzyme system (mother PGM1 1, child PGM1 2) and by the Duffy system (mother Fy(a-b+), child Fy(a+b-]. To clarify these findings chromosomal analyses and anthropological investigations were carried out. The possibility that the child had been mistakenly identified after birth could be eliminated. Chromosome analysis of the child showed a fragile site on one chromosome No. 1 at 1p31, a position supposed to carry the PGM1 and the Duffy loci. Although the father of the child is unknown, paternal origin of the fragile site is unlikely on account of the coincidence of the structural aberration with the missing expression of the maternal PGM1 and Duffy alleles thought to be located at the chromosome region involved. Thus localisation of the PGM1 and Duffy loci on 1p31 seems to have been achieved in an unusual way. The two loci appear to be closely linked.
Asunto(s)
Antígenos de Grupos Sanguíneos/genética , Fragilidad Cromosómica , Mapeo Cromosómico , Cromosomas Humanos 1-3 , Sistema del Grupo Sanguíneo Duffy/genética , Ligamiento Genético , Fosfoglucomutasa/genética , Alelos , Sitios Frágiles del Cromosoma , Electroforesis en Gel de Almidón , Femenino , Marcadores Genéticos , Humanos , CariotipificaciónRESUMEN
Blood transfusion is a procedure in which it is incumbent on the attendant doctor to undertake appropriate enlightenment of the patient, obtain the patient's consent, define the precise indications and perform the task with technical proficiency. The doctor undertaking blood transfusion must be acquainted with the legal basis for these responsibilities and be aware of the legal aspects which free him from these obligations in exceptional cases. Since the urgency of transfusion varies from case to case the following classification is proposed: normal cases, special cases and emergency cases. In view of the lack of legal guiding principles, the "3-stage cross-match test" in saline and albumin milieu, as well as in the Coombs test is recommended, in accordance with the provisions existing in Switzerland, the Federal Republic of Germany and in France. The procedure to be used in emergency cases is discussed. Moreover, advice is given in the event of fatal complications on the basis of a discussion of the causative factors and legal consequences involved in 21 cases which came to autopsy by order of the coroner.
Asunto(s)
Transfusión Sanguínea , Legislación Médica , Antígenos de Grupos Sanguíneos , Incompatibilidad de Grupos Sanguíneos , Embolia Aérea/terapia , Humanos , Consentimiento Informado , Jurisprudencia , Educación del Paciente como Asunto , Sistema del Grupo Sanguíneo Rh-Hr , Reacción a la TransfusiónAsunto(s)
Conservación de la Sangre/métodos , Cariotipificación , Paternidad , Humanos , Masculino , TemperaturaRESUMEN
Familial prevalence of some congenital cardiopathies leads to the conclusion that genetic factors might be involved. The case histories are presented of three families with atrial septal defect, Type II (ASD II) in which autosomal dominant inheritance was assumed on account of the pedigree analysis. Each family member was examined serologically, morphologically and morphometrically. One family was also tested for cytogenetic abnormalities. It is highly probable that the gene responsible for the defect is linked to the HLA system (Lod score = + 3.612) and is, therefore, located on the short arm of chromosome 6. The morphological examinations demonstrated uniformity of individual ear traits in related patients; moreover, the palmar dermatoglyphics showed a tendency to shortening of main line C, to ulnar and distal shifting of the carpal triradius and to an increase in hypothenar patterns. In addition a study was carried out of patients with apparently sporadic cardiopathy. A similar trend as to palmar configuration was observed. An attempt was made to connect known factors causing malformations with the results of this investigations.
Asunto(s)
Defectos del Tabique Interatrial/genética , Adolescente , Adulto , Anciano , Factores de Coagulación Sanguínea/análisis , Antígenos de Grupos Sanguíneos , Cefalometría , Niño , Preescolar , Citogenética , Dermatoglifia , Cara/anatomía & histología , Femenino , Genes Dominantes , Defectos del Tabique Interatrial/etiología , Humanos , Masculino , Persona de Mediana Edad , LinajeRESUMEN
Among the 700 inmates of a big Austrian prison 5 cases of XYY caryotype were detected by means of the Quinacrinfluorescence method and subsequent lymphocyte culture. Keeping in mind that, if at all, only a small amount of criminal behavior may be explained by chromosomal factors three hypotheses about possible links between the XYY abnormality and criminal behavior are discussed in this paper. 1. the connection is a spurious one, as both criminal behavior and the XYY caryotype are more frequent in a working class population without being necessarily linked causally. 2. criminal behavior may be a consequence of the bodily abnormalities connected with the XYY abnormality. 3. the XYY type may contribute to criminal behaviour by acting upon neuro-endocrinological structures.
Asunto(s)
Prisioneros , Aberraciones Cromosómicas Sexuales/diagnóstico , Adulto , Psicología Criminal , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Pruebas PsicológicasAsunto(s)
Aberraciones Cromosómicas Sexuales/diagnóstico , Agresión , Estatura , Humanos , Masculino , Prisioneros , Cromosomas SexualesRESUMEN
Blood transfusion is a procedure in which it is oncumbent on the attendant doctor to undertake appropriate enlightenment of the patient, obtain the patient's consent, define the precise indications and perform the task with technical proficiency. The doctor undertaking blood transfusion must be acquainted with the legal basis and be aware of the legal aspects which free him from these obligations in exceptional cases. Since the urgency of transfusion varies from case to case the following classification is posed: normal cases, special cases, urgent cases and emergency cases. In view of the lack of legal guiding principles, the basic requirements for the correct procedure in each of the four groups are clearly drawn up in tabular form. Moreover, advice is given in the event of fatal complications on the basis of a discussion of the causative factors and legal consequences involved in 20 cases which came to autopsy by order of the coroner.