Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011.

A precise guideline establishing chromosomal microarray analysis (CMA) applications and platforms in the prenatal setting does not exist. The controversial question is whether CMA technologies can or should soon replace standard karyotyping in prenatal diagnostic practice. A review of the recent literature and survey of the knowledge and experience of all members of the Italian Society of Human Genetics (SIGU) Committee were carried out in order to propose recommendations for the use of CMA in prenatal testing. The analysis of datasets reported in the medical literature showed a considerable 6.4% incidence of pathogenic copy number variations (CNVs) in the group of pregnancies with sonographically detected fetal abnormalities and normal karyotype. The reported CNVs are likely to have a relevant role in terms of nosology for the fetus and in the assessment of reproductive risk for the couple. Estimation of the frequency of copy number variations of uncertain significance (VOUS) varied depending on the different CMA platforms used, ranging from 0-4%, obtained using targeted arrays, to 9-12%, obtained using high-resolution whole genome single nucleotide polymorphism (SNP) arrays. CMA analysis can be considered a second-tier diagnostic test to be used after standard karyotyping in selected groups of pregnancies, namely those with single (apparently isolated) or multiple ultrasound fetal abnormalities, those with chromosomal rearrangements, even if apparently balanced, and those with supernumerary marker chromosomes.

Semen analysis and seminal plasma biochemistry in two brothers with familial reciprocal translocation 46,XY,t(8;9)(p10;p10) transmitted by the father.

Here we report familial balanced translocation (46,XY,t(8;9)(p10;p10) inherited by two brothers from the father. The first subject, 33 years old, was examined after 3 years of childless marriage. Semen analysis showed severe oligozoospermia, hypomotility and teratozoospermia. His brother, 29 years old, volunteered to join this study. He had not yet tried to start a family. Semen analysis showed dyspermia, but the condition was much less serious than his brother's. In both subjects, the secretory function of the epididymis and the genital tract accessory glands did not seem to be affected by this particular translocation. This case report highlights the importance of cytogenetic analysis in dealing with infertile patients suffering from severe dyspermia apparently sine causa. This is particularly the case when certain Assisted Reproductive Technology (ART) programs are recommended, where natural selection of the sperm no longer takes place (e.g. ICSI). The possible risk of an increase in fetal chromosomal abnormalities would suggest genetic counselling in all such situations.

Energetic study of the disordered solvent in the crystal structure of an isoxazole derivative. Erratum.

An error in printing is reported. In the paper by Pani et al. [Acta Cryst. (1998), B54, 872-876] the value of Deltarho(max) is given incorrectly in the last sentence on page 874. The sentence should read 'In the last difference Fourier map, the highest Deltarho values were found near the Cl atoms (Deltarho(max) +0.32 e Å(-3)); the final reliability indexes were R(1) = 0.072 over 1762 F(o) > 4sigma(F(o)) and wR(2) = 0.228 on 4029 F(o)(2) for 245 refined parameters, with a goodness-of-fit of 0.96.'

Compression of multispectral images by spectral classification and transform coding.

This paper presents a new technique for the compression of multispectral images, which relies on the segmentation of the image into regions of approximately homogeneous land cover. The rationale behind this approach is that, within regions of the same land cover, the pixels have stationary statistics and are characterized by mostly linear dependency, contrary to what usually happens for unsegmented images. Therefore, by applying conventional transform coding techniques to homogeneous groups of pixels, the proposed algorithm is able to effectively exploit the statistical redundancy of the image, thereby improving the rate distortion performance. The proposed coding strategy consists of three main steps. First, each pixel is classified by vector quantizing its spectral response vector, so that both a reliable classification and a minimum distortion encoding of each vector are obtained. Then, the classification map is entropy encoded and sent as side information, Finally, the residual vectors are grouped according to their classes and undergo Karhunen-Loeve transforming in the spectral domain and discrete cosine transforming in the spatial domain. Numerical experiments on a six-band thematic mapper image show that the proposed technique outperforms the conventional transform coding technique by 1 to 2 dB at all rates of interest.

[Epidural sacral anesthesia with 3% mepivacaine in rectal surgery]. / Epidurale sacrale con mepivacaina 3% nella chirurgia proctologica.

The authors think that the sacral epidural anaesthesia effected with Mepivacaine 3%, 6 ml (180 mg) and Fentanyl 2 ml (100 mcg) is perfectly indicated for the proctologic surgery as it is of simple execution and presents a short latency (12 min.), good deepness and perfect haemodynamic stability. Besides, it does not endanger the lower limbs innervation. No urinary retention.

Octanol-water partition coefficients of substituted alpha, N-diphenylnitrones and benzonitrile N-oxides.

Experimental octanol-water partition coefficients are reported for substituted alpha, N-diphenylnitrones and benzonitrile N-oxides. The results of these measurements are used to calculate the aromatic fragment constants pi HC = N(O)C6H5, pi C = N----O, fHC = N(O), and fC = N----O for the group contribution methods of Hansch and Leo.

Passive-active immunoprophylaxis in newborns to HBsAg carrier mothers liguria--I.

Thirty neonates to HBsAg carrier mothers, two of whom were HBeAg positive, received passive-active immunoprophylaxis. Within 48 hours after birth and at the first month of life these newborns were given HBIG (0.5 ml/Kg) and at the third month of life they were given first vaccination (10 micrograms). "HB-Vax" (M.S.D.) has been employed and its schedule has been performed (2 degrees and 3 degrees injections respectively at 4th and 9th month of life). Blood specimens have been collected in infants at birth and at each HBIG and vaccine administration, two months after the 2nd vaccination, one and six months after the third one. All specimens have been tested for HBV markers: HBsAg, anti-HBs, anti-HBc, anti-HBe and anti-HBc IgM. The anti-HBs titration has been performed according to WHO International Reference anti-HBs Standard. ALT and AST levels were determined in all infants specimens. The newborns did not show clinical signs or lab tests expressing HBV infection during the follow-up period. The anti-HBs geometric mean titres have been the following: 125 mIU/ml at 1 month, 176.4 mIU/ml at 3 months, 64.4 mIU/ml at 4 months, 119 mIU/ml at 6 months, 321 mIU/ml at 9 months, 2580.8 mIU/ml at 10 months and 715.3 mIU/ml at 15 months of life. Finally, side effects were observed for no infants.