Biomedical subjects

M Faria

Publications and source records attributed to M Faria.

21 records · Page 2Linked to original sources

PubMedDate not supplied

Triplex-forming molecules: from concepts to applications.

The ability to specifically manipulate gene expression has wide-ranging applications in experimental biology and in gene-based therapeutics. The design of molecules that recognise specific sequences on the DNA double helix provides us with interesting tools to interfere with DNA information processing at an early stage of gene expression. Triplex-forming molecules specifically recognise oligopyrimidine-oligopurine sequences by hydrogen bonding interactions. Applications of such triplex-forming molecules (TFMs) are the subject of the present review. In cell cultures, TFMs have been successfully used to down- or up-regulate transcription in a gene-specific manner and to induce genomic DNA modifications at a selected site. The first evidence of a triplex-based activity in animals has been provided recently. In addition, TFMs are also powerful tools for gene-specific chemistry, in particular for gene transfer applications.

Animals↗

PubMedDate not supplied

Fetal mild hydronephrosis and chromosomal defects: relation to maternal age and gestation.

The presence of multiple ultrasonographic abnormalities is associated with a significantly increased risk of chromosomal defects, while for isolated abnormalities, the association is less clear. In a study of 1,177 fetuses with mild hydronephrosis at 16-26 weeks of gestation, the fetal karyotype was abnormal in 86 (7.3%) of the cases and the most common chromosomal defects were trisomies 21, 18 and 13. The frequency of chromosomal defects increased with the number of additional abnormalities and for each chromosomal defect there was a characteristic pattern of associated abnormalities. However, in the 805 fetuses with apparently isolated hydronephrosis there were 5 (0.62%) with trisomy 21. On the basis of the maternal age and gestational age distribution of the population the expected frequency of trisomy 21 was 0.40%, which was not significantly different from the observed (0.62%). To demonstrate that such a difference is significant, it would be necessary to investigate at least 1 million pregnancies. In the meantime, parents could be counselled that the presence of mild hydronephrosis does not increase significantly the risk that the fetus has trisomy 21. Alternatively, the risk is 1.6 times higher than the maternal age and gestational age-related risk.

Adolescent↗

PubMedDate not supplied

[Gangrenous cystitis].

Gangrenous cystitis is a rare condition, there are no typical symptoms or clinical findings, which hampers diagnosis and may worsen the prognosis. The authors report the case of a diabetic male patient, hospitalized because of poor general condition, dehydration and diffuse abdominal pain. The diagnosis was made by typical pelvic CT findings. Medical treatment must be intensive and begun as soon as possible. As in the present case, the situation may have a favorable outcome.

Aged↗