Analysis of Y-chromosomal SNP haplogroups and STR haplotypes in an Algerian population sample.

The distribution of Y-chromosomal single nucleotide polymorphism (SNP) haplogroups and short tandem repeat (STR) haplotypes was determined in a sample of 102 unrelated men of Arab origin from northwestern Algeria (Oran area). A total of nine different haplogroups were identified by a panel of 22 binary markers. The most common haplogroups observed in the Algerian population were E3b2 (45.1%) and J1 (22.5%). Y-STR typing by a 17-loci multiplex system allowed 93 haplotypes to be defined (88 were unique). Striking differences in the allele distribution and gene diversity of Y-STR markers between haplogroups could be found. In particular, intermediate alleles at locus DYS458 specifically characterized the haplotypes of individuals carrying haplogroup J1. All the intermediate alleles shared a common repeat sequence structure, supporting the hypothesis that the variant originated from a single mutational event.

Population data for Y-chromosome STR haplotypes from Piedmont (Italy).

Eight Y-chromosome STR loci (DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393 and DYS385) were analysed in a sample of 236 unrelated males from four towns of Piedmont (Trino, Biella, Cavaglià, Postua). One hundred and fifty six different haplotypes were observed and 55 of them were not previously observed in the Y-STR Haplotype Reference Database (http://www.ystr.org/).

Y-chromosomal STR haplotypes in Sicily.

Eight Y-chromosomal short tandem repeats (STRs)-DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393 and DYS385-were typed in a population sample (n=255) of unrelated Sicilian males from nine different towns on the main island and from the island of Pantelleria.

[Intestinal obstruction due to perforated cecal volvulus. Case report]. / Occlusione intestinale da volvolo perforato del colon destro. Descrizione di caso clinico.

Cecal volvulus is an uncommon cause of large-bowel obstruction. Its developement is due to an abnormal mobility of the ileocecal loop because of lacking attachement of ascending colon. Clinical features are frequently aspecific and should be differentiated from sigmoid volvulus and neoplastic obstruction. Therapy depends on visceral circulatory conditions at the moment of diagnosis. Possible options include endoscopic decompression, cecopexy with or without cecostomy, right colectomy with immediate or delayed anastomosis. The present paper reports the case of cecal volvulus in a 44 year old woman, successfully treated with right colectomy and primary anastomosis.

Y-chromosomal STR haplotypes in a population sample from continental Greece, and the islands of Crete and Chios.

Eight Y-chromosomal short tandem repeats (STRs)--DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, and DYS385--were typed in a population sample (n = 113) of unrelated males from seven different regions of Greece (Macedonia, Thessaly, Epirus, Central Greece, Peloponnese, Crete Island, and Chios Island).

The TDI-FP assay in human Y chromosome SNP haplotyping.

One of the many commercial technologies for genotyping single nucleotide polymorphisms (SNPs) is template direct dye-terminator incorporation with fluorescence-polarization (TDI-FP assay). It is a single-base extension assay followed by reading the fluorescence polarization values in an appropriate instrument. We have evaluated the suitability of the TDI-FP technique to detect haploid uniparentally inherited DNA polymorphisms on the nonrecombining portion of the Y chromosome. A sample of 47 individuals has been genotyped for 8 Y chromosome biallelic markers. The SNP typing was blindly duplicated by the denaturing high-performance liquid chromatography (DHPLC) technique for comparison. In the cases under examination the TDI-FP assay was able to resolve an allelic state fully. Such a result showed 100% concordance indicating how efficiently the TDI assay can be used to genotype Y chromosome DNA SNPs. However, a percentage of indeterminate genotypes remained unresolved by simple visual inspection: it varied from 0% to 11% depending on the SNP locus and on the success of amplification. This is consistent with previous findings. A maximum likelihood classificatory analysis allowed some of the indeterminate genotypes to be assigned and some potentially misclassified samples to be identified. Their percentage remains relatively high despite retyping and therefore alternative techniques for these noncompliant situations are required.

[Left pyo-pneumothorax: a rare complication of colon carcinoma]. / Pio-pneumotorace sinistro: rara complicanza di un carcinoma del colon.

A case of pio-pneumothorax complicating a splenic flexure colonic carcinoma is herein presented. The patient was a 58 years old male and was submitted 3 months earlier to a colo-colic bypass for a locally advanced tumor infiltrating stomach, spleen, tail of the pancreas and left emidiaphragm. Few days before the admittance in our ward, he experienced fever, anorexia, and severe dispnoea. Treatment was a water seal drainage of the chest evacuating nearly 8 Liters of purulent material where Escherichia coli was found. Death occurred 2 weeks after drainage. From the analysis of the literature thoracic empyema is an extremely rare complication of colonic carcinoma: 5 other cases have been reported so far. Pathogenesis in half of the cases was due to septicemia and in the others to infectious local spreading.