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I Piccini

Publications and source records attributed to I Piccini.

6 recordsLinked to original sources

Human genome dispersal and evolution of 4q35 duplications and interspersed LSau repeats.

We have investigated the evolutionary history of the 4q35 paralogous region, and of a sub-family of interspersed LSau repeats. In HSA, 4q35 duplications were localized at 1q12, 3p12.3, 4q35, 10q26, 20cen, whereas duplicons and interspersed LSau repeats simultaneously labeled the p arm of acrocentric chromosomes. A multi-site localization of 4q35-like sequences was also observed in PTR, GGO, PPY, HLA (Hominoidea) and PAN (Old World monkey), thus indicating that duplications of this region have occurred extensively in the two clades, which diverged at least 25 million years ago. In HSA, PTR and PAN, 4q35-derived duplicons co-localized with rDNA, whereas in GGO and PPY this association was partially lacking. In PAN, the single- and multi-site distribution of rDNA and paralogous sequences, respectively, indicates a different timing of sequence dispersal. The sub-family of interspersed LSau repeats showed a lesser dispersal than 4q35 duplications both in man and great apes. This finding suggests that duplications and repeated sequences have undergone different expansion/contraction events during evolution. The mechanisms underlying the dispersal of paralogous regions may be further derived through studies comparing the detailed structural organization of these genomic regions in man and primates.

Animals↗

The structure of duplications on human acrocentric chromosome short arms derived by the analysis of 15p.

We report the molecular analysis of a 130-kb DNA region containing a junction between beta and non-beta satellite DNA from chromosome 15p. The genomic region is characterized by beta satellite blocks intermingled with variants of the D4Z4 repeat, and duplicons from 4q24 and 4q35. Besides the p-arm of acrocentric chromosomes, the duplicons showed a wide genomespread involving pericentromeric, sub-telomeric, and interstitial regions. In this regard, the paralogous sequences were characterized by a high similarity index (96%), thus indicating a recent transposition during the evolution. The acrocentrics differedwith regard to the location of the 4q24 paralogous region, since it mapped on the p-arm of chromosomes 13-15 and 21, but only on 22q11.2. Conversely, the 4q35 duplication marked the p-arm of all the acrocentrics. In different individuals, the short arm of acrocentric chromosomes revealed a great variability of sequence representation and location at p11 and/or p13 for both the 4q24 and 4q35 duplications. The studied genomic region from chromosome 15p, of which a contig of approximately 200 kb has been derived, could lead to more detailed investigations into the sequence organization and possible biological function of chromosome regions that are located close to the rDNA array.

Alu Elements↗

[Thyroid carcinoma in hyperthyroid syndromes].

The relationship between hyperthyroidism and carcinoma of the thyroid is still uncertain. The incidence of thyroid carcinoma ranges from 0.3 to 16.6%. Between 1984 and 1994 the Authors observed 9 patients affected with thyroid cancer and toxic nodular goiter (4 patients) or Basedow disease (2 patients) or scintigraphic evidence of single hyperfunctioning nodule (3 patients). Six out of the 9 cases were diagnosed as papillary cancer, while three as follicular cancer. A carcinoma was diagnosed before operation in only one case, while in the other 8 patients, the diagnosis was obtained by histological examination of the specimen. Four patients underwent subtotal thyroidectomy, while five patients underwent radical lobectomy. All patients are alive and in good health; the average follow-up was 48 months.

Adenocarcinoma, Follicular↗

[Role of surgery in the treatment of acute hemorrhagic non-variceal lesions in the upper gastrointestinal tract].

From January 1993 to December 1994, out of 244 cases of upper gastrointestinal hemorrhage observed 25 patients underwent surgical treatment. Twenty-nine bleeding varices were excluded from this study. Early endoscopy revealed the source of bleeding almost in all cases (84%). All patients received, at the time of admission, medical treatment associated in 7 cases (28%) to endoscopic injection therapy. Emergency surgery indications were massive bleeding persistent bleeding, rebleeding and macroscopic findings of lesions. The aim of this report is to verify the respective roles of medical, endoscopic and surgical therapies in relation to the nature of the bleeding lesion and the entity of the hemorrhage. Results with regard to indication, clinical data, surgical technique were compared with literature data.

Adult↗

[Intestinal anastomosis with biodegradable ring].

The authors report their experience using biofragmentable anastomosis ring (BAR) in bowel anastomosis. Starting January 1993 to February 1994, 46 intestinal anastomoses were performed using BAR, and particularly 39 end-to-end colo-colostomies, 2 end-to-side colo-colostomies and 5 end-to-side ileo-colostomies. 35 patients were affected by colonic neoplasm, 5 patients by diverticular colonic complications- and 5 patients by several unusual bowel diseases. Four emergency operations were performed, while 42 patients had an accurate bowel preparation before surgery. In this series of patients one case of preoperative mortality is reported, due to massive pulmonary embolism. Instead several minor complications occurred in other patients, such as paroxysmal atrial fibrillation (one case), basal pleuritis (one case), hyperpyrexia (three cases), temporary subocclusion or delayed canalization (five cases). Only one patient suffered from intestinal occlusion induced by adhesions and a second laparotomy was required. Delayed canalization seems to be caused by the small size of the BAR employed (25 mm) or by inadequate intestinal preparation, that usually occurs in emergency operations. After surgery all patients were followed up and 18 of them were examined by coloscopy six months after surgery. No clinical problem connected with bowel anastomosis was reported and all anastomosis looked quite previous and resilient. No anastomotic stenosis was found. In our experience and from recent reviewed reports, BAR seems to be a rapid, effective and safe device for sutureless bowel anastomosis.

Adult↗

[Eosinophilic gastritis. Clinico-pathologic considerations on a case and review of the literature].

The clinical, radiographic and histological features of a case of eosinophilic gastritis in a 26 year old-man without personal or familial signs of allergy are reported. The Authors pointed out the importance of radiographic and histological aspects of the case studied. Therefore they represent essential methods for a correct diagnosis and an appropriate management that in this case is only pharmacological. The diagnosis of eosinophilic gastritis is, however, important for the recognition of specific allergens.

Adult↗