Efficacy and safety of statin therapy in children with familial hypercholesterolemia: a randomized, double-blind, placebo-controlled trial with simvastatin.

BACKGROUND: A multicenter, randomized, double-blind, placebo-controlled study was conducted to evaluate LDL cholesterol-lowering efficacy, overall safety, and tolerability and the influence on growth and pubertal development of simvastatin in a large cohort of boys and girls with heterozygous familial hypercholesterolemia (heFH). METHODS AND RESULTS: A total of 173 heFH children (98 boys and 75 girls) were included in this study. After a 4-week diet/placebo run-in period, children with heFH were randomized to either simvastatin or placebo in a ratio of 3:2. Simvastatin was started at 10 mg/d and titrated at 8-week intervals to 20 and then 40 mg/d. During a 24-week extension period, the patients continued to receive simvastatin (40 mg) or placebo according to their assignment. After 48 weeks of simvastatin therapy, there were significant reductions of LDL cholesterol (-41%), total cholesterol (-31%), apolipoprotein B (-34%), VLDL cholesterol (-21%), and triglyceride (-9%) levels. HDL cholesterol and apolipoprotein A-I levels were increased by 3.3% and 10.4%, respectively (not significant). No safety issues became evident. Except for small decreases in dehydroepiandrosterone sulfate compared with placebo, there were no significant changes from baseline in adrenal, gonadal, and pituitary hormones in either treatment group. CONCLUSIONS: Simvastatin significantly reduced LDL cholesterol, total cholesterol, triglyceride, VLDL cholesterol, and apolipoprotein B levels and was well tolerated in children with heFH. There was no evidence of any adverse effect of simvastatin on growth and pubertal development. Therefore, simvastatin at doses up to 40 mg is a well-tolerated and effective therapy for heFH children.

Novel mutations in 13 probands with galactokinase deficiency.

Galactokinase is an essential enzyme in the metabolism of galactose. Patients with deficiencies in galactokinase exhibit early-onset cataracts. We examined the sequence of the human galactokinase gene (GK1) from 13 patients exhibiting galactokinase deficiency and identified 12 novel mutations. One of the mutations occurred in six of the 13 probands examined, and the remaining 11 were unique mutations. Expression of each of the mutant GK1 genes in Xenopus oocytes resulted in very low galactokinase activity levels. These results provide important information regarding the types of GK1 mutations that occur in the human population.

Observaciones sobre un caso de incesto y revision de la literatura actual / A case of incest and review of the current literature

La carencia de informacion sobre las uniones incestuosas, nos llamo poderosamente la atencion, pues es un fenomeno que implica la existencia de patrones familiares muy alterados, con participacion de personalidades psicopatologicas, con consecuencias legales, y en caso de haber embarazo, con una alta morbimortalidad. Debido a esta carencia de informacion decidimos revisar la literatura mundial, relacionandola con un caso nuestro, hacer un analisis de los individuos participantes y, sobre todo de las repercusiones geneticas que el incesto acarrea al terminar en embarazo. Es el proposito de este analisis que los Servicios de Trabajo Social, los Servicios de Neonatologia y de Obstetricia de los diferentes hospitales del pais, profundicen mas en dicho problema, para prevenir este tipo de uniones hasta donde sea posible en el futuro, y se nos refieren los casos que sean detectados en dichos centros, para realizar el estudio correspondiente

Trisomia 18. / Trisomy 18

Se presenta un estudio de 7 casos de trisomia 18 estudiados en un periodo de 2 anos en el Servicio de Genetica del Hospital Nacional de Ninos "Dr. Carlos Saenz Herrera". Se mencionan las caracteristicas clinicas y el resultado del estudio de cromosomas que coinciden con lo ya reportado en la literatura. Se cita la incidencia como baja puesto que para la poblacion del pais se esperaria el doble del numero de casos referidos. Se insiste en recordar a los medicos tener presente este sindrome y que el cuadro sea sospechado con mas frecuencia

[XXYY chromosomal constitution recognised during the 1st year of life]. / Constitution chromosomique XXYY reconnue dans la première année de la vie

The authors report two cases of infants with an XXYY chromosomal constitution. The anomaly was suspected in the presence of a particular facies associated with abnormalities of development of the external genitalia. The diagnosis was confirmed rapidly and easily by immunofluorescent study of buccal scrapings and polynu clear cells. Early diagnosis is a value with regard to family counselling.

[Cat eye syndrome with pituitary dwarfism and normal mental development]. / Syndrome dit de l'oeil de chat avec nanisme hypophysaire et developpement mental normal

In the so-called "cat-eye" syndrome are associated the following malformations: coloboma iridis, anal atresia, pre-auricular fistullae with an extra 47th chromosome of the G group type. About twenty cases have already been reported. Some are familial cases and some have the complete phenotype but without the extra chromosome. Even if the structure of the material of this element is doubtful, its responsability in the phenotype is likely. This case is reported since the patient has pituitary dwarfism and normal intelligence.