Concentraciones sanguíneas infraterapéuticas de everólimus asociado al consumo de caramelos con extracto de hipérico (Hypericum perforatum o hierba de San Juan) / Decreased everolimus blood concentration associated with consumption of St. John’s wort (Hypericum perforatum) extract sweets

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[Prolonged neonatal cholestasis: prospective study]. / Colestase neonatal prolongada: estudo prospectivo.

Due to the urgency in choosing either clinical treatment or immediate surgical intervention, the study of the prolonged neonatal cholestasis involves two basic aims: the differential diagnosis between biliary atresia and neonatal hepatitis and the research into the associated etiological agents. So, in a prospective trial carried out in the 70's, 77 children with prolonged neonatal cholestasis were studied in order to establish the differential diagnosis between biliary atresia and neonatal hepatitis, followed by the evaluation of 108 children towards a pathogenesis of the prolonged neonatal cholestasis. The results of the differential diagnosis showed that within 18 items examined only 8 proved to be good biliary atresia indicators. They are as follows (in decreasing order): ductular proliferation (portal tracts), fibrosis (portal tracts), cholestasis (portal tracts), stools colour--acholia, hepatomegaly, canalicular cholestasis (lobule), infiltrate (portal tracts), giant cells (lobule). These eight items were then gathered in a sole indicator of great discriminative power, with a confidence level of 99%. The figures regarding the pathogenesis are: rubella virus 0%, herpes simplex virus 0%, listeriosis 0%, cytomegalovirus 2.2%, hepatitis B virus 2.4%, toxoplasmosis 2.8%, alpha-1-antitrypsin deficiency 13.1%, syphilis 21.1%, autoantibodies against the liver 58.4%. Such work thus revealed that those eight most important factors when differentiating biliary atresia from neonatal hepatitis remain as fundamental indicators and, when employed alongside other diagnostic methods, can help in the assembling of a multifactorial strategy less and less invasive and more precise. The pathogenic study, with its heavy dependency on time and place, has become more complete with the introduction of new diagnostic methods, evolving to the ideal progressive reduction of idiopathic processes.

Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency

The most common enzymatic defect of steroid synthesis is deficiency of the adrenal steroid 21-hydroxylase. Inhibition of the formation of cortisol results in an increased pituitary release of ACTH which in turn drives the adrenal cortex to overproduce androgens. This hormonal setting affects the development of genetic females by misdirecting the differentiation of external genitalia towards the male type. Since the isolation of the gene encoding 21-hydroxylase enzyme in 1984, gene deletions, large gene conversions, and microconversions have been reported to be responsible for the disease. In this paper, we report a study of this genetic defect in 22 families with one or more affected offspring diagnosed as having the classical form of congenital adrenal hyperplasia. The DNA from 30 patients was analyzed with three restriction enzymes. Hybridization with a 21-hydroxylase cDNA probe and the 5' end of a C4 genomic probe disclosed gene deletion in 7.3 percent (3/41) of the disease-related chromosomes. The rate of large gene conversion was 17.1 percent (7/41), and no abnormality in the hybridization pattern was observed in 75.6 percent (31/41) of the disease alleles. Densitometry of the autoradiographs was used to determine the ratio of the copy-number of the 2 1-hydroxylase gene (CYP21B) to the copy-number of its pseudogene (CYP21A). Differences in phenotype, the low frequency of gene deletion, and the high frequency of gene conversion compared with other studies in different populations indicated that 21-hydroxylase deficiency in the Brazilian population may involve different molecular mutations.

Hypovolemic hemorrhagic shock (an experimental study).

With the objective of studying the natural defense mechanisms against traumatic hemorrhages, 20 mice were studies. Some of the large vessels were examined histologically after fixing with formaldehyde, in cases of bleeding, bleeding + hemodilution and controls. In the hemo-diluted group, important alterations in the distribution of the components of the blood stream were confirmed and in one case, there was extravasation of liquid poor in cellular elements. The results show that hemodilution is an unfavorable condition for the natural defense mechanisms against hemorrhage. The repercussion of these experimental results on clinical cases of traumatic hemorrhage is speculated.

[Ganglioneuroma and chronic secretory diarrhea]. / Ganglioneuroma e diarréia crônica secretora.

The clinical case of a six year old child with two years of severe watery chronic diarrhea is presented. An exhaustive investigation followed by exploratory abdominal surgery, showed ganglioneuroma secreting tumor of VIP (vasoactive intestinal polypeptide). The clinical behavior, the complexity of the diagnostic, its rareness and its physiopathology are discussed.