PubMed Health⌕ Search

Biomedical subjects

B Santini

Publications and source records attributed to B Santini.

41 records · Page 3Linked to original sources
PubMedDate not supplied

[Advantages and limits of rigid rectosigmoidoscope and flexible colonoscope in childhood].

During the past ten years 220 pediatric proctosigmoidoscopies with the rigid instrument in 182 infants and children, and 71 colonoscopies in 62, were performed. Advantages and limits of these two instruments are discussed. The indications and results of the different procedures are presented. Positive diagnoses were obtained in 81% with both techniques while the histological examination was positive in 85% of specimens obtained by colonoscopy and only in 51% of the proctosigmoidoscopical ones. Colonoscopy has increasingly became a complementary method for colonic pathology in children, in comparison with adult medicine, however, pediatric indications have been handled mostly with the shorter instrument for two main reasons: 1) Pediatric colonic pathology affects predominantely the lower tract; 2) Neoplastic lesions, in which total colonoscopy with biopies at different levels is mandatory, are extremely rare in children.

Adolescent↗
PubMedDate not supplied

[Cystic fibrosis: molecular genetics and new perspectives of prevention and therapy].

Cystic fibrosis (CF) is the most common lethal autosomal recessive disorder among Caucasians, occurring with a frequency of 1/2000 newborn babies. This editorial will consider the clinical features of CF as well as the genomic structure of the CFTR gene and the functional properties of its product, mutations of the gene, correlations between genotypes and phenotypes, strategies for carrier screening, and recent advances in gene therapy. After isolation and cloning of the CFTR gene, different laboratories have characterized over 350 mutations responsible for CF, the most frequent being the delta F508 which accounts for 70% of all CF chromosomes. Studies on correlations between genotypes and phenotypes have confirmed that patients with the homozygous delta F508/delta F508 genotype are severely affected, with major involvement of pancreatic function. Patients with the delta F508/R117H genotype, on the other hand, evidence a mild phenotype with pancreatic sufficiency. Several pilot studies for carrier detection are now in progress. As recent experiments with somatic gene therapy, performed on knock-out mice for the CFTR gene have given satisfactory results, it is hoped that the same approach can soon be used for humans.

Adolescent↗