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Biomedical subjects

A Cama

Publications and source records attributed to A Cama.

134 records · Page 8Linked to original sources
PubMedDate not supplied

Molecular genetics of hereditary non-polyposis colorectal cancer (HNPCC).

The story of the molecular genetics of HNPCC is one of astonishingly rapid achievements. In just 16 months, from May 1993 to September 1994, four different genes, namely hMSH2, hMLH1, hPMS1 and hPMS2 have been identified and demonstrated to be associated with the disease. Their cloning was facilitated by the finding that tumor cells in HNPCC patients display a hypermutability of DNA short tandem repeats (microsatellite instability). In fact, HNPCC associated genes are the human counterparts of genetic elements known to control the fidelity of DNA replication in lower organisms. So far, more than 50 germline mutations of hMSH2 and hMLH1 genes have been reported in HNPCC kindreds. In addition, somatic mutations have been documented in hereditary as well as sporadic cancers. Unfortunately, the molecular diagnosis of HNPCC is hampered by the lack of mutational "hot spots" and of clearly defined genotype-phenotype correlations and different screening methods are to be employed for the analysis of affected and at-risk individuals.

Colorectal Neoplasms, Hereditary Nonpolyposis↗
PubMedDate not supplied

[The hemophilic child. Post-traumatic cerebrospinal complications. Diagnostic protocol].

The authors report their experience on 30 hemophilic children controlled at the Pediatric Institute G. Gaslini, Genoa, Italy; among the 30 patients, there were 4 cases of hemophilia A, and 1 of Von Willebrand disease. Various degrees of trauma in different sites had caused central neurological complications. In all cases CT, both in the immediate post-traumatic phase and later on, allowed both an early diagnosis and the follow-up of hemorrhagic lesions and late complications, even in absence of significant neurologic symptomatology; medical replacement treatment and neurosurgery, when needed, allowed a positive resolution of all cases. The authors believe this early-phase and follow-up diagnostic protocol, together with strict clinical and laboratory controls, to allow a prompt interdisciplinary therapeutic approach, which has preventive aims as well.

Cerebral Hemorrhage↗
PubMedDate not supplied

Patterns of inheritance in Irish and Italian families with neural tube defects: comparison between high and low rate areas.

Neural tube defects (NTDs) may result from a genetic susceptibility interacting with environmental exposures occurring early in pregnancy. Current research is concerned with enlarging our understanding of the action of folic acid, a B group vitamin, which has been shown to prevent the occurrence of NTDs in clinical trials. Despite the epidemic waves in the incidence of NTDs and the existence of areas with very high rates, there have been few studies that explored the genetic contribution to NTDs in high rates versus low rate areas. We investigated the genetic epidemiologic factors that occur in NTD families and compared their frequency in a high rate area-Ireland-with a low rate area-Italy. We explored the existence of three features indicative of hereditary factors and found that all three factors were higher in Ireland than in Italy. These factors were (i) sibling recurrence risk (3.3% vs 1.6%; p = 0.2), (ii), other malformations in siblings (11.5% vs 3.3%; p < 0.001) and (iii) average number of children in mothers' families vs fathers' families (average difference in Ireland 1.0 vs 0.4 in Italy; p < 0.1). These results support the motion that geographic differences in occurrence of NTDs are due at least in part to differing prevalences of genetic susceptibility factors. Further epidemiological and molecular studies are needed to confirm this observation. In addition, studies of the interactions between environmental agents and genetic susceptibility will be important in determining their relative contributions.

Child↗