Biomedical subjects
Publications and source records attributed to I Carbone.
Explore the source record for details and available documents.
Caveolae are small pockets or invaginations localized at the plasma membrane. Caveolins are the principal protein components of caveolae and play an important structural role in the formation of caveolae membranes. Here, we studied by freeze fracture and immunological techniques the spatial organization of caveolae at the muscle cell plasma membrane and the expression of caveolin-3 in Duchenne muscular dystrophy (DMD) muscle fibers. In DMD muscle, we found an increased number of caveolae at the sarcolemma that corresponds to an overexpression of caveolin-3 by immunohistochemistry and by Western blot analysis. These findings suggest a possible role for caveolae and caveolin-3 in the pathogenesis of DMD.
PURPOSE: A locus for benign familial convulsions (BFICs) has been recently mapped on chromosome 19q12-13.1 by studying five families of Italian descent. The main goal of this study was to investigate the role of this locus in a set of seven newly identified families with at least three affected cases. METHODS: Five polymorphic microsatellite markers covering the BFIC locus on chromosome 19q have been typed, and parametric linkage analysis has been performed to analyze the segregation of the BFIC locus within our families. RESULTS: Cumulative 2-point lod scores and multipoint analysis showed no evidence of linkage between chromosome 19 markers and the BFIC phenotype. The analysis of family-specific 2-point lod scores and haplotypes, however, indicated the presence of linkage to chromosome 19q in a single family, suggesting genetic heterogeneity within our family sample. CONCLUSIONS: Our study demonstrates that the previously reported BFIC locus on chromosome 19q12-13.1 is not a major locus for BFICs. We suggest that genetic heterogeneity may have generated our discordant linkage findings, as it was reported in benign familial neonatal convulsions, a related idiopathic mendelian syndrome.
OBJECTIVE: Intraoperative ultrasound has gradually expanded in the last two decades to a variety of surgical specialties and has gained an established role in many surgical procedures. Laparoscopic and thoracoscopic ultrasound are the latest modes of intraoperative sonography. They have been introduced mainly to overcome the two major drawbacks of laparoscopy, i.e. the capability of showing only the surface of the organs and the lack of manual palpation of the anatomical structures. We review and discuss the established and the most recent applications of intraoperative and laparoscopic ultrasound. MATERIAL AND METHODS: The technology, new indications and results of intraoperative and laparoscopic ultrasound are reviewed. This review is based on the experience gained in our Institution during more than 500 surgical procedures and the analysis of the literature on the subject. RESULTS: The yield of intraoperative and laparoscopic ultrasound consists in confirming preoperative studies and acquiring new data which would not be available otherwise. An important role of these techniques is determining the anatomy of the involved organs, thus providing a guidance for surgery. Both techniques have an important role in surgical decision-making, particularly with respect to hepatic, biliary and pancreatic malignancies. In some series the rate of major changes in the surgical strategy can be as high as 38%. A relatively new application of intraoperative ultrasound is the possibility to perform interstitial therapy of tumors at the time of the initial surgery. This can be useful, for example, in patients undergoing liver resection, when other unresectable lesions are found in a different segment or in the contralateral lobe. Finally, laparoscopic sonography has an important role in staging abdominal neoplasm, providing more information than preoperative imaging and laparoscopic exploration. This feature can be used to effectively stage gastrointestinal malignancies, pancreatic carcinoma, and abdominal lymphomas. CONCLUSION: The application of intraoperative ultrasound will increase in the era of minimally access surgery and this will be dependent not only on technical improvements in ultrasound technology. Indeed, it may be expected that a variety of open procedures will be performed with videolaparoscopic monitoring and will need the guidance of laparoscopic sonography. In the future, the staging of abdominal neoplasm may be markedly improved by laparoscopy combined with laparoscopic ultrasound; however a cost-benefit analysis of these techniques and a comparison with preoperative tests should be carried out.
A 1,380-bp intervening sequence within the mitochondrial small subunit ribosomal RNA (mt SSU rRNA) gene of the fungus Sclerotinia sclerotiorum has been sequenced and identified as a group-I intron. This is the first report of an intron in the mt SSU rRNA gene. The intron shows close similarity in secondary structure to the subgroup-IC2 introns from Podospora (ND3i1, ND5i2, and COIi5) and Neurospora (ND5i1). The intron has an open reading frame (ORF) that encodes a putative protein of 420 amino acids which contains two copies of the LAGLI-DADG motif. The ORF belongs to a family of ORFs identified in Podospora (ND3i1, ND4Li1, ND4Li2, ND5i2, and COIi5) and Neurospora (ND5i1). The putative 420-aa polypeptide is also similar to a site-specific endonuclease in the chloroplast large subunit ribosomal RNA (LSU rRNA) gene of the green alga Chlamydomonas eugametos. In each clone of S. sclerotiorum examined, including several clones which were sampled over a 3-year period from geographically separated sites, all isolates either had the intron or lacked the intron within the mt SSU rRNA gene. Screening by means of Southern hybridization and PCR amplification detected the intron in the mt SSU rRNA genes of S. minor, S. trifoliorum and Sclerotium cepivorum, but not in other members of the Sclerotiniaceae, such as Botrytis anamorphs of Botryotinia spp., or in other ascomycetous and basidiomycetous fungi.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Esophagotrachea is the most severe form of laryngo-tracheo-esophageal cleft. This congenital anomaly is due to the anomalous differentiation of the primitive cephalic gut into trachea and esophagus. We present a case of a new born female with a common tracheoesophageal canal up to the carina. Atresia ani, a vulvo-vestibular fistula, sacral ipoplasia and others associated anomalies were also present. The baby underwent surgery after a laringo-tracheoscopy and a barium study of the esophagus. The prognosis of this extremely rare malformation is generally poor and the baby died on the fifth day after surgery for a serious ipertensive pneumothorax.
BACKGROUND: Coronary artery disease (CAD) is the most common cause of hospitalization and mortality in many industrialized countries. We analysed the diagnostic accuracy of multi-detector row spiral computed tomography (MDCT) in determining mid- to high-grade coronary artery stenoses (> 50%). METHODS: Sixty-nine patients with suspected CAD were referred to MDCT coronary angiography. Patients with a heart rate above 60 bpm received 20-40 mg propranol before the scan. The left main (LM), the left anterior descending artery (LAD), the first diagonal branch (D1), the right coronary artery (RCA) and the proximal tract of the circumflex artery (LCX) were independently evaluated by two blinded observers and screened for > 50% stenoses. The mean values of MDCT coronary narrowings assessed by two observers were compared to quantitative coronary angiography. RESULTS: MDCT correctly detected 95 of 123 coronary lesions (sensitivity 77.2%) and absence of stenoses was correctly identified in 388 of 426 segments (specificity 91%). The sensitivity for the LM, LAD, RCA and the proximal tract of LCX was 100%, 86.5%, 69.8% and 80% respectively. Classification of patients as having 1-vessel, 2-vessels, 3-vessels or left main disease was accurate in 75.4% (46/61) of patients. CONCLUSIONS: MDCT technology, combined with heart rate control, allows reliable noninvasive detection of hemodynamically significant CAD.
Correct diagnostic evaluation of chronic pancreatitis pictures must of necessity be directed to recognition of recurrent and stable forms and identification of the pathogenetic cause of the clinical forms. This objective seems to be achieved more than satisfactions by the diagnostic protocol employed personally, the first stages of which include X-ray of the abdomen for the identification of possible pancreatic calcification, ultrasonography and computed axial tomography for the analysis of organ's morphology and structure, intestinal absorption and pharmacodynamic tests of the papillary excretory complex for the evaluation of functional state of the pancreas. At a second time, this diagnostic protocol includes endoscopic pancreatography for the analysis of the excretory duct and identification of possible calcareous concretions in its lumen, and district angiography, for information on the extreme viscero-vascular implications and the possibility of coexistence of district portal hypertension pictures. The resulting information dominates therapeutic choices by indicating the usefulness of performing a papillo-sphincteroplasty to handle the biliary aetiology in recurrent forms and Wirsung septoplasty for ductal ostial stenoses. The choice of shunts and resections is confirmed to the stable forms, with the use of the former in the event of ductal dilatation and of the latter in the absence of this and in the presence of more or less marked gland fibrosis. Derivative procedures also control treatment of chronic post-pancreatitis pseudocyst, with a clear-cut prevalence of cysto-gastric shunts over all the other possibilities.(ABSTRACT TRUNCATED AT 250 WORDS)
Inflammatory pseudotumor is a rare benign lesion; the lung and conducting airways can be the seat where is often localized. The ileal localization, reported at present, can be defined unique. In our case was very difficult to perform a right diagnosis cause the absence of pathognomonic symptoms. Surgical procedure too was not able to resolve the diagnostic problem: in fact macroscopically the lesion seemed an ileal carcinoma or Crohn's disease. Only the microscopical examination with the individuation of Russell's bodies, macrophages and other inflammatory cells can perform the right diagnosis.
Explore the source record for details and available documents.