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S Martinoli

Publications and source records attributed to S Martinoli.

At least 19 recordsLinked to original sources
PubMed2004

[Blast injury. Acute blindness caused by thoracoabdominal compression trauma].

Blindness can be the consequence of trauma, which until now had only been described in cases involving direct facial or cranial trauma. In our case a 53-year-old street worker became irreversibly blind after a thoracoabdominal compression trauma. The investigations performed were inconclusive regarding the cause of blindness. We postulate a massive increase in venous blood pressure with capillary stasis and consequent optic nerve damage. Fat emboli syndrome or posterior ischemic optic neuropathy could be causes, but unrealistic for this case. It still comes into question why such a mechanism has not been seen in other blast injury cases. In the end, the additional factor that resulted here in complete irreversible blindness remains unclear.

Abdominal Injuries↗
PubMed2001

Combined copy status of 18q21 genes in colorectal cancer shows frequent retention of SMAD7.

Deletions of chromosome band 18q21 appear with very high frequency in a variety of carcinomas, especially in colorectal cancer. Potent tumor suppressor genes located in this region encode transforming growth factor beta (TGF-beta) signal transducers SMAD2 and SMAD4, and inactivation of either one leads to impaired TGF-beta-mediated cell growth/apoptosis. Following the assignment of SMAD7 to 18q21, we first refined the SMAD7 gene position within this region by genetically mapping SMAD7 between SMAD2 and SMAD4. Further, to compare the respective frequencies of genetic alterations of these three SMAD genes in colorectal cancer, we undertook a large-scale evaluation of the copy status of each of these genes on DNA samples from colorectal tumor biopsy material. Among a subset of 233 DNA samples for which data were available for all four genes, SMAD4, SMAD2, and the nearby gene DCC showed high deletion rates (66%, 64%, and 59%, respectively), whereas SMAD7 was deleted in only 48% of the tumors. Unexpectedly, we found some gene duplications; SMAD7 appears to be more frequently amplified (10%) than the three other genes (4-7%). Compiled data for SMAD genes in each tumor show that the most common combination (26% of all the tumors) consists of the simultaneous deletions of SMAD2 and SMAD4 associated with normal diploidy or even duplication of SMAD7. Since SMAD7 normally counteracts SMAD2 and SMAD4 in TGF-beta signaling, we hypothesize that the tumor might not benefit from simultaneous SMAD7 inactivation, thereby exerting selective pressure to retain or even to duplicate the SMAD7 gene.

Chromosome Deletion↗
PubMed2001

Attitudes and behavior of young European adults towards the donation of organs--a call for better information.

Public perception of organ donation critically affects the availability of organ transplantation in the Western world. To assess the attitude of young adults towards the donation of organs and to investigate potential factors influencing their knowledge and actual behavior regarding organ transplantation, we evaluated a handout questionnaire survey of all Swiss-Italian recruits during six of the years 1989-98 (n = 7272). The attitude of recruits towards organ donation did not change significantly within the 10-year survey period: 61% of young men would personally donate their organs in the case of brain death, 13% would refuse, and 26% had not made up their mind. If they had to decide for close relatives, 50% would consent; 60% of recruits neither knew their next of kin's attitude nor had informed them about their own opinion; 80% felt they were insufficiently informed about organ transplantation. A significantly more positive attitude towards organ donation was found among men who felt they were sufficiently informed, who had close next of kin who were aware of their personal attitude (p < 0.0001), who had contacts with transplanted persons (p < 0.015), or who believed in an existence after death (p < 0.001; chi2-test). Our results suggest that there is potentially large support towards organ donation in this population. To minimize the high rate of indecisiveness, young adults need more appropriate information on the subject and they ask for it.

Adult↗
PubMed2000

Attitudes of hospital staff involved in organ donation to the procedure.

Hospital staff have a key function in asking for potential organ donors, but little is known about their own attitudes towards donation. In a community hospital with 7-8 multi-organ extraction procedures each year 199 staff members were surveyed. Although only 7% of the responding staff would personally refuse to donate an organ, 23 % would not give consent to organ donation from a close relative. 47 % of those prepared to be donors had signed a donor card. Donors informed their family more frequently (88 %) about their personal attitude towards organ donation than non-donors (60 %), or undecided personnel (43,8 %; chi-square P = 0,004). No significant difference in attitude according to medical profession subgroups was found. The findings are in line with general population surveys and indicate that much work needs to be done to encourage medical staff involved in organ donation to set an example to the community.

Adult↗
PubMed2000

[Recurrent hyperparathyroidism in kidney failure patients after total parathyroidectomy and autotransplantation. Case report and review of the literature].

We present the case of a 57-year old man who underwent total parathyroidectomy with autotransplantation into the brachioradial muscle (Wells' method) due to secondary hyperparathyroidism as a complication of chronic renal failure. Three years later the patient developed recurrent secondary hyperparathyroidism due to graft hyperplasia resulting in the removal of the graft. We point out various problems associated with Wells' method and discuss alternative surgical techniques.

Humans↗
PubMed1999

[Graphical analysis and operative technique of single-cut osteotomy for complex femur deformities].

The correction of complex long bone deformities with concurrent bending, twisting and shortening is primarily based on complex preoperative planning. Up to now, wedge-shaped cortico-spongiose osteotomy has usually been performed. The single cut osteotomy requires more complex mathematical calculations and was therefore less frequently undertaken. In this paper, we present a graphical approach to define the plane of the single-cut osteotomy without any calculations. The resulting osteotomy allows a simultaneous correction of a deformation in the coronal and sagittal planes, as well as a coexisting torsional error. The advantages of this graphical approach are evident. Preoperative planning is significantly simplified and abbreviated as mathematical calculations are no longer needed. Furthermore, the precision by which the osteotomy plane is defined is not decreased by application of this method. However, the osteotomy should be done preoperatively in a model.

Bone Malalignment↗
PubMed1998

Misleading symptoms after a minor blunt chest trauma. Thoracoscopic treatment of diaphragmatic rupture.

We present a case of missed diaphragmatic rupture which was treated thoracoscopically. Rupture of the diaphragm is a serious complication of blunt trauma. The diaphragmatic injury can easily be overlooked. This report illustrates the diagnostic dilemma in a patient where the injury was missed at the time of initial presentation. The role of thoracoscopy both for diagnosis and therapy is discussed.

Accidents, Traffic↗
PubMed1998

Phenotypic differences in familial adenomatous polyposis based on APC gene mutation status.

BACKGROUND: Familial adenomatous polyposis (FAP) is a clinically well defined hereditary disease caused by germline mutations within the adenomatous polyposis coli (APC) gene. Although several techniques are applied in the mutation analysis of FAP kindreds about 20-50% of cases remain unclear, with no APC mutation identified (APC negative). AIMS: To delineate phenotypic differences between APC positive and APC negative patients with respect to colonic and extracolonic disease in order to determine whether additional mechanisms are involved in the pathogenesis of FAP. METHODS: The entire coding region of the APC gene was analysed using single stranded conformation polymorphism and protein truncation tests in 50 Swiss FAP families with a total of 161 affected individuals. Differences in phenotypic manifestation were statistically evaluated by Student's t test, Fisher's exact test, and chi2 test. RESULTS: Thirty six families (72%) were APC positive. Statistically significant differences between APC positive and APC negative groups were found for the mean age at diagnosis of colonic polyposis (35.2 versus 45.3 years, respectively) and for the occurrence of stomach polyps (14 patients, all APC positive). Additionally, APC negative patients displayed lower polyp numbers at diagnosis and less extracolonic manifestations. CONCLUSIONS: FAP kindreds without detected APC gene mutations present with a notably milder disease phenotype compared with APC positive families, suggesting that different genetic factors might be involved.

Adenomatous Polyposis Coli↗
PubMed1997

[Carcinoid tumor in Meckel's diverticulum: case presentation and review of the literature].

Meckel's diverticulum is the most common anomaly of the gastrointestinal tract. Neoplasms are extremely rare. We report a case of carcinoid tumor of Meckel's diverticulum in a patient with acute abdominal pain. So far, 111 cases have been reported. Review of the literature reveals that carcinoids are the most common malignant tumors of Meckel's diverticulum. Two thirds of the patients remain asymptomatic. Metastases are seen in 25% at diagnosis. The probability of metastases depends on the size of the primary tumor. Because of the early metastases rate even in small tumors, aggressive surgical management is justified.

Abdomen, Acute↗
PubMed1996

[Bronchus carcinoid tumor in the Tessin canton, retrospective analysis of 13 years and literature review].

Between 1981 and 1993, 27 bronchial carcinoids were diagnosed in patients living in the Swiss Canton of Ticino, with a mean age of 55 (24-78) years. The incidence was 0.79/100,000 inhabitants. Main symptoms were cough (41%), hemoptysis (30%) and bronchial obstruction such as pneumonia or atelectasis (26%). There were no cases with carcinoid crisis. Preoperative evaluation included chest X-ray (100%), bronchoscopic biopsy (84%), computed tomography (44%) and mediastinoscopy (15%). Some 69% of the patients underwent lobectomy and 15% segmental resection. Pneumonectomy was required for curative surgery in 2 patients. One patient underwent bronchoscopic resection. Surgery is generally indicated. The 5-year survival rate for typical carcinoid was 94% and was significantly reduced to 42% in atypical carcinoid cases (p = 0.02). Prognosis after radical surgery is favorable and depends mainly on lymph node involvement and the histological type of carcinoid.

Adult↗
PubMed1995

Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes.

The APC gene is mutated in the germline of people from families where there is a predisposition to develop polyposis coli. Many mutations have been described but the relation between their site and the phenotypic expression of the disease remains unclear. The most commonly seen mutation occurs at codon 1309. Many other mutations have been described towards the 5' end of exon 15 of the APC gene but comparatively few have been seen towards the 3' end. Recent reports have indicated the possibility of a functional boundary with respect to severity and age of onset of disease, which lies towards the 5' end of the gene. This report describes a large family whose affected members present with a very variable phenotype ranging from an early onset and severe form to a comparatively mild later onset one. The mutation that predisposes to disease in this family is at a previously undescribed site that lies towards the 3' end of exon 15 of the APC gene, which results in a stop codon. Interestingly, the stop codon is 63 codons downstream of the mutation and therefore may affect the expression of the disease. The addition of this mutation to the growing list of mutations described in the APC gene may provide some insight into the genotype/phenotype relation of the disease thus contributing to the understanding and significance of mutations at specific sites in the APC gene.

Adenomatous Polyposis Coli↗