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Lynch syndrome is associated with germ-line mutations in the DNA mismatch repair (MMR) genes, mainlyMLH1andMSH2. Most of the mutations reported in these genes to date are point mutations, small deletions, and insertions. Large genomic rearrangements in the MMR genes predisposing to Lynch syndrome also occur, but the frequency varies depending on the population studied on average from 5 to 20%. The aim of this study was to examine the contribution of large rearrangements in theMLH1andMSH2genes in a well-characterised series of 63 unrelated Southern Italian Lynch syndrome patients who were negative for pathogenic point mutations in theMLH1,MSH2, andMSH6genes. We identified a large novel deletion in theMSH2gene, including exon 6 in one of the patients analysed (1.6% frequency). This deletion was confirmed and localised by long-range PCR. The breakpoints of this rearrangement were characterised by sequencing. Further analysis of the breakpoints revealed that this rearrangement was a product of Alu-mediated recombination. Our findings identified a novel Alu-mediated rearrangement withinMSH2gene and showed that large deletions or duplications inMLH1andMSH2genes are low-frequency mutational events in Southern Italian patients with an inherited predisposition to colon cancer.

Background The treatment of diabetic foot lesions need medications capable of managing wound infection and exudates that, variously combined, can influence the natural history of the pathology and therefore limb survival. A particular and economic device, is represented by honeycomb structure polyurethane foam Ligasano ©.

Methods The study group is yet represented by 33 patients: 17 males and 16 females (median age 76, range 70–89). The location of cancer was respectively: 5 (15, 15%) in the rectum, 15 (45, 45%) in the left colon, 11 (33, 33%) in the right colon, 1 (3, 3%) in the transverse colon, 1 (3, 3%) synchronous in the caecum and the sigmoid colon. The associated diseases observed were: chronic obstructive pulmonary disease, hypertension, diabetes mellitus, ischemic heart disease arterial vasculopathy.

Background The Authors report a case of chronic cutaneous lesions in a patient affected by prolidase deficiency, a rare disorder inherited through an autosomal recessive gene (50 cases reported ). The enzyme prolidase is widely distributed throughout the body and it is important in the recycling of proline and hydroxyproline. Among the clinical presentations, the most striking manifestation is the skin fragility with leg ulceration (see Table ​Table11) Table 1 Clinical signs of prolidase deficiency The deficiency of the enzyme prolidase is responsible for massive loss of proline in the urine which is estimated to be as high as 3 g/die. The diagnosis is ascertained by iminopeptiduria greater than 5 mmol/24h. A characteristic feature is absolute resistance to all forms of treatment including rejection of skin grafts.