A new germline mutation in BRCA1 gene in a sicilian family with ovarian cancer.

A group of 103 sicilian patients with hereditary and familiar breast and/or ovarian cancer were screened for Breast Cancer 1 gene (BRCA1) mutations by direct sequencing PCR products spanning the coding region and partial intronic regions of the BRCA1 gene. In this study, we report a new germline mutation in BRCA1 gene, not previously reported in the BIC database, in a woman with ovarian cancer at 46 years old. Mother's proband has been diagnosed the same histotype of ovarian cancer at 42 age. The mutational analyses that shown a 4843delC frameshift mutation in exon 16 of BRCA1 gene was extended to other family members including the proband's brother and her two sons. Direct automatic sequencing of DNA extracted from the lymphocytes showed exactly the same 4843delC frameshift mutation only in the brother. In conclusion, the characterization of this mutation could help in the identification of a founder mutation of sicilian area and this may provide significant advantages for genetic counselling

Cry features reflect pain intensity in term newborns: an alarm threshold

The purpose of this study was to assess differences in sound spectra of crying of term newborns in relation to different pain levels. Fifty-seven consecutively born neonates were evaluated during heel-prick performed with different analgesic techniques. Crying was recorded and frequency spectrograms analyzed. A pain score on the DAN (Douleur Aiguë du Nouveau-né) scale was assigned to each baby after the sampling. Three features were considered and correlated with the corresponding DAN scores: 1) whole spectral form; 2) the fundamental frequency of the first cry emitted (F0); and 3) root mean square sound pressure normalized to its maximum. After emission of the first cry, babies with DAN scores >8, but not with DAN scores 8 had a significantly higher F0 than those with lower DAN scores (p = 0.016). An alarm threshold exists between high (>8) and low (< or =8) DAN scores: crying has different features in these two groups. When pain exceeds a DAN score of 8, usually a first cry at a high pitch is emitted, followed by the siren cry, with a sound level maintained near its maximum