Blood protoporphyrin IX as a biological indicator of increased absorption of lead.

Blood lead and erythrocyte zinc-protoporphyrin levels were studied in 45 male adults exposed to lead (traditional home-factory pottery) and compared with two control populations. These two variables are well correlated in all the studied populations. Delta-aminolevulinic acid levels in urine (ALA-U) were significantly higher in the exposed group. Hemoglobin concentration (Hb), hematocrit (Hc) values and clinical data were also considered. We conclude that the zinc-protoporphyrin method here used is a simple reliable field test of the selection of individuals who need more detailed clinical investigation.

[Estimation of the probability of heterozygosity in Duchenne-type progressive muscular dystrophy]. / Estimación de la probabilidad de heterocigocidad en la distrofia muscular progresiva tipo Duchenne.

The severe Duchenne type of muscular dystrophy is inherited as an X-linked recessive trait. Approximately two thirds of healthy female heterozygous carriers have a high serum creatine kinase (SCK). A suspected carrier with a normal SCK level therefore, presents an important problem in genetic counselling. Based on Bayesian methods, Emery and Hollyway derived a formula which is applicable when the sporadic case is either the son or brother of a consultant and which also includes information on SCK levels in the consultant and in normal daughters and sisters. The present paper describes the results obtained with use of this formula in 27 families with at least a propositus with Duchenne muscular dystrophy.

Estimacion de la probabilidad de heterocigocidad en la distrofia muscular progresiva tipo Duchenne. / Probability estimation of heterozygocity in Duchenne muscular dystrophy

La distrofia muscular progresiva tipo Duchenne es una enfermedad hereditaria ligada al cromosoma X. Aproximadamente dos terceras partes de mujeres heterocigotas (portadoras) del gen, presentan niveles sericos altos de creatinfosfocinasa (CPK). Una portadora probable con un nivel serico normal de CPK, representa un serio problema en asesoramiento genetico. Basados en metodos bayesianos, Emery y Holloway derivaron una formula la cual es aplicable cuando el caso esporadico corresponde a un hermano o hijo de la consultante e incluye informacion sobre los niveles sericos de CPK de la consultante, de las hijas de la consultante y de sus hermanas. En el presente trabajo se describen los resultados obtenidos con el uso de esta formula en 27 familias con al menos un propositus con distrofia muscular progresiva tipo Duchenne

[Hemoglobin S. Apropos of a family]. / Hemoglobina S. A propósito de una familia.

The present paper describes a homozygote patient for the gene of hemoglobin S. The patient is the first child of non-consanguineous parents. The family study revealed 11 heterozygote subjects for the sickle cell disease.

[Association on Sturge Weber and Klippel Trenaunay Weber syndromes. Apropos of 2 cases]. / Asociación de los síndromes de Sturge-Weber y Klippel-Trenaunay-Weber. A propósito de dos casos.

The present paper describes two patients with Sturge-Weber and Klippel Trénaunay-Weber syndromes. Some etiopathogenic factors are analyzed. We suggest that the association of both diseases in the same patient may be due to a single autosomal dominant gene.

[Familial Pierre Robin's anomaly]. / Anomalía familiar de Pierre Robin.

The present paper describes a family with daughter and son affected with clinical characteristics of Pierre Robin's anomaly. The pedigree suggests an autosomal recessive inheritance pattern. The authors mention that in order to have more genetic evidence on this trait, an extensive study of families, with at least one proband should be made for a correct genetic analysis.