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M Cappelli

Publications and source records attributed to M Cappelli.

At least 19 recordsLinked to original sources
PubMed2006

Hemodynamics of the sapheno-femoral complex: an operational diagnosis of proximal femoral valve function.

AIM: A significant relationship between great saphenous vein (GSV) caliber at the thigh and function of the terminal valve of the sapheno-femoral junction (SFJ) has already been demonstrated. Yet, the function of the proximal common femoral valve (FV), which is missing in 20-24% of cases, might also play a significant role in SFJ reflux. The aim of this paper was to verify whether GSV caliber also predicts the function/presence of FV. METHODS: Using a high-resolution duplex scanner we selected 572 GSVs showing clear-cut SFJ incompetence. Then, by positioning the probe on the inguinal skin fold and orientating the probe upward, we tested FV function. Valve incompetence was diagnosed when a retrograde flow lasting longer than 0.5 s was elicited by both calf squeezing with sudden release and Valsalva maneuver, with the patient standing. Finally, in all patients we measured GSV caliber 15 cm below the groin in the standing position. RESULTS: GSV caliber =7 was not predictive of FV function/presence (51.9% competence vs 48.1% incompetence/absence). In contrast, GSV caliber < or = 6 mm and GSV caliber > or = 8 mm were highly predictive of FV competence and incompetence/absence, respectively (sensibility 98.6%, specificity 80.4%, positive predictive power 88.2%, negative predictive power 97.4%, diagnostic accuracy 91.3%). CONCLUSIONS: Our data strengthen the relationship between GSV caliber at the thigh and hemodynamics of the whole sapheno-femoral complex, including in this definition the FV also.

Adult↗
PubMed2005

Two single-nucleotide polymorphisms in the 5' and 3' ends of the osteopontin gene contribute to susceptibility to systemic lupus erythematosus.

OBJECTIVE: To test the association of osteopontin (OPN) polymorphisms with systemic lupus erythematosus (SLE). METHODS: The coding 5' and 3' flanking regions of the OPN gene were scanned for polymorphisms by denaturing high-performance liquid chromatography. A case-control association study was performed in 394 Italian SLE patients and 479 matched controls. OPN serum levels were determined by enzyme-linked immunosorbent assay in 40 patients and 124 controls, and the mean levels were compared between the different OPN genotypes. RESULTS: Among the 13 detected single-nucleotide polymorphisms (SNPs), alleles -156G (frequency 0.714 versus 0.651; P = 0.006, corrected P [P(corr)] = 0.036) and +1239C (0.377 versus 0.297; P = 0.00094, P(corr) = 0.0056) were significantly increased in the SLE patients compared with the controls. The presence of the associated allele in single or double dose conferred an odds ratio (OR) of 2.35 (95% confidence interval [95% CI] 1.38-4.02) for SNP -156 and an OR of 1.57 (95% CI 1.16-2.13) for SNP +1239. These effects were independent of each other, i.e., not a consequence of linkage disequilibrium between the 2 alleles. The risk associated with a double dose of susceptibility alleles at both SNPs was 3.8-fold higher (95% CI 2.0-7.4) relative to the complete absence of susceptibility alleles. With regard to individual clinical and immunologic features, a significant association was seen between lymphadenopathy and -156 genotypes (overall P = 0.0011, P(corr) = 0.046). A significantly increased OPN serum level was detected in healthy individuals carrying +1239C (P = 0.002), which is indicative of an association between the SLE susceptibility allele and OPN levels. CONCLUSION: These data suggest the independent effect of a promoter (-156) and a 3'-untranslated region (+1239) SNP in SLE susceptibility. We can speculate that these sequence variants (or others in perfect linkage disequilibrium) create a predisposition to high production of OPN, and that this in turn may confer susceptibility to SLE.

Disease Susceptibility↗
PubMed2005

A randomized trial comparing alternative approaches to prenatal diagnosis counseling in advanced maternal age patients.

Prenatal diagnosis (PND) is offered routinely as part of pregnancy care to a large number of women at increased risk of fetal anomalies. Despite an extraordinary growth in the use of PND and significant resource allocation, few studies have examined outcomes of PND counseling, and virtually no research has evaluated the relative efficacy of various approaches to genetic counseling. This study was a randomized trial that compared which counseling methods - individual, group, and use of a decision aid - are effective in PND counseling for women of advanced maternal age (>/=35 years) and their partners. Three hundred and fifty-two women and 225 partners completed pre- and post-intervention questionnaires assessing changes in knowledge, decisional conflict, state anxiety, satisfaction, use of PND, and pregnancy outcomes. All participants showed a significant increase in knowledge and a decrease in decisional conflict post intervention. Those in the group intervention showed a significantly greater increase in knowledge than those in the individual counseling intervention. While high levels of satisfaction were reported by all, those in individual counseling were significantly more satisfied than those receiving group counseling or the decision aid. This study has shown unique benefits with each type of intervention such that women and their partners preferred individual genetic counseling, while they learned best in group-counseling sessions, and experienced the least decisional conflict regarding genetic testing with a decision aid.

Adult↗
PubMed2005

Psychological and genetic counseling implications for adolescent daughters of mothers with breast cancer.

Adolescent daughters of women with breast cancer (BC) are themselves at risk for heritable BC. Although some preliminary evidence suggests this group is at an increased risk for emotional problems, evidence is limited to studies with small samples and no comparison groups. This study examined psychological and family functioning, health attitudes and beliefs about genetic risks in adolescent females. A case-comparison design was used to compare 55 mother-daughter pairs in which the mother had been treated for BC (BC group) to 55 families from the general population (GP). Participants completed an assessment battery measuring perceptions of personal risk for BC and attitudes about gene testing for BC susceptibility, family functioning, and adolescent psychological adjustment. Based on manova, no significant differences were found between the two groups on measures of the psychological functioning. However, BC group adolescents reported significant (p < 0.01) worries about their future health and genetic risk for BC. About 68% of BC adolescents compared with 12% of GP adolescents reported being moderately to greatly concerned about their susceptibility to genetic mutations. Further, 85% of BC group adolescents believed they were susceptible to BC compared with 10% of GP adolescents. The results indicated no evidence of emotional, behavioral, or familial distress in these families. However, BC adolescents have significant worries about their future health. The results of this study demonstrate the need to develop a comprehensive model of care where accurate information about genetics and health risks can be provided. The adolescents also need support to help them cope and communicate with their mothers their worries about BC.

Adolescent↗
PubMed2004

Long term effectiveness of intravenous immunoglobulin in Churg-Strauss syndrome.

OBJECTIVE: To study the long term effectiveness of intravenous immunoglobulin and plasmapheresis associated with prednisone and cyclophosphamide in Churg-Strauss syndrome. SUBJECTS: and methods: We studied 18 subjects with new onset Churg-Strauss syndrome. All received the "standard" treatment based on prednisone (1 mg/kg/day for 1 month and then slowly tapered) and cyclophosphamide (2 mg/kg/day for 6 months in severe cases). In nine patients, synchronised cycles with plasmapheresis and intravenous immunoglobulin (2 g/kg) were repeated monthly for 6 months and every other month for a further three cycles. Clinical (disease activity monitored by Birmingham vasculitis activity score (BVAS) and damage index (modified Rankin score)) and functional (C reactive protein, blood eosinophil count, and electromyogram-electoneurogram) parameters were collected during treatment and the 3 year follow up period. RESULTS: After 12 months, all patients in the treatment group and four (44%) in the control group were in remission. At the end of the 3 year follow up period, we documented significant differences in BVAS (p<0.01), global damage (p<0.02), modified Rankin score (p<0.04), and the daily maintenance prednisone dose (p<0.002) between the two groups. We found a tendency towards lower frequency of relapse and incidence of osteoporosis in the treatment group. CONCLUSION: Complete clinical and functional recovery with a long term stable remission and a low incidence of side effects can be achieved by intravenous immunoglobulin associated with plasmapheresis in patients with Churg-Strauss syndrome.

Adult↗
PubMed2004

Hemodynamics of the sapheno-femoral junction. Patterns of reflux and their clinical implications.

AIM: The detection of reflux elicited by the compression/release test with the PW Doppler sample at the level of the sapheno-femoral arch might not be sufficient by itself to diagnose the incompetence of the whole sapheno-femoral junction (SFJ). The aim of this study was to further refine the diagnosis by positioning the PW Doppler sample at different levels of SFJ and eliciting reflux both by squeezing and with the Valsalva manoeuvre. In addition, the relationship of the findings with the vein diameter was taken into consideration. METHODS: By using a high resolution duplex scanner, 1 294 great saphenous veins (GSV) found to be incompetent by the compression/release test at duplex investigation of the saphenous arch, were also tested at the same level by the Valsalva manoeuvre. Subsequently, the tests were repeated by positioning the PW Doppler sample at the femoral side of the terminal valve, at the saphenous arch tributaries, and at the pre-terminal valve level. Furthermore, the GSV diameter in the standing position was measured at 15 cm from the groin in all patients, and correlated with the hemodynamic patterns found at the junction level. RESULTS: Comparing to compression/release test at the level of the saphenous arch, the Valsalva manoeuvre was negative in 259 (20%) lower limbs and positive in 1 035 (80%). Among the 1 294 GSV found to be incompetent at compression/release test at the level of the saphenous arch, only 710 (55%) lower limbs showed incompetence of the terminal valve. A total of 124 patients (10%), presenting with a competent terminal valve but with a positive Valsalva manoeuvre in the arch, showed a downward flow from a pelvic tributary of the GSV. Finally, a significant statistical correlation between the presence of a competent terminal valve and a GSV diameter <5 mm has been found (p<0.001). CONCLUSION: Our data show that the detection of reflux elicited by compression/release test at the level of the saphenous arch is insufficient to diagnose the incompetence of the terminal valve. Our results, together with the correlation between the saphenous trunk diameter at the thigh and the competence or the incompetence of the terminal valve, present significant clinical implications when sapheno-femoral surgical disconnection is contemplated.

Female↗
PubMed2002

Participation rates of Ashkenazi Jews in a colon cancer community-based screening/prevention study.

In a recent colon cancer risk study, genetic assessment and colonoscopy were offered to virtually all of the adult Ashkenazi Jews in an urban community. The present study was designed to examine factors influencing participation and response in the initial study and to suggest strategies for improving participation in future health promotion programs. The study comprised a random sample of three groups of individuals who had been targeted for participation in the previous study: those who had (a) agreed to participate (n = 234); (b) declined participation (n = 179); and (c) failed to respond to a mailed recruitment package (n = 128). All participants completed a brief telephone survey. Key multivariate predictors of both response and participation were individuals' perceptions of the drawbacks of participating in colon cancer screening research and the degree of decisional conflict they experienced. Response was further predicted by the influence of spouses, family history of colon cancer, past knowledge of genetic testing for colon cancer, and education level. Participation was predicted by awareness that the study was supported by the Ashkenazi Jewish community, past experience with genetic testing, individuals' perceptions of the benefits of participating, and whether or not they had children. The degree to which individuals understand the purpose and nature of genetic screening research, along with their levels of decisional conflict and other psychosocial factors, may influence the likelihood of their participation in such research. Results of this study suggest a number of possible strategies for improving participation and response rates in disease prevention and detection studies.

Age Factors↗
PubMed2002

Association tests with systemic lupus erythematosus (SLE) of IL10 markers indicate a direct involvement of a CA repeat in the 5' regulatory region.

Many lines of evidence suggest that IL10 is a strong candidate gene for systemic lupus erythematosus (SLE) susceptibility. In our previously reported study an allele (IL10.G-140bp) of the microsatellite IL10.G located at position -1100 was significantly increased in Italian SLE patients in comparison with controls. Starting from this observation, we tested if sequence variations in the vicinity of IL10.G were more strongly associated with SLE. We performed a comprehensive association study including 26 SNPs (of which four were newly identified in the present study by DHPLC analysis) spanning 8.5 Kb of the 5' flanking and the transcribed region of the IL10 gene. The association study was performed by the DNA pool method on an extended panel of Italian patients (205) and controls (631). Haplotypic associations were studied by individual typing of seven selected markers surrounding IL10.G. Gene, genotype and haplotype frequencies were not significantly different in patients and controls. Thus the IL10.G microsatellite remains to date the only IL10 marker associated with SLE in our population. A meta-analysis of all published results indicates a possible direct role of the IL10.G repeat number in SLE susceptibility.

5' Flanking Region↗
PubMed2001

Measuring women's preferences for breast cancer treatments and BRCA1/BRCA2 testing.

In establishing decision models in the treatment and prevention of breast cancer, it is important to evaluate patients' preferences for such interventions. The objectives of the present study were: (i) to characterize women's preferences for breast cancer treatments and BRCA1/BRCA2 testing, using the rating scale and standard gamble techniques; and (ii) to identify factors associated with these quality of life indices. Data were collected from women with breast cancer (n = 60), high-risk relatives of women with breast cancer (n = 58), and women in the general population (n = 51). Regardless of group membership, participants favoured treatment and prevention options that involved minimal physical invasiveness. Women with breast cancer rated lumpectomy and radiation treatment more highly than high-risk relatives and women in the general population. Preferences did not differ according to participants' intentions to undergo BRCA testing. Age was the only demographic variable associated with health state preferences. These findings hold implications for the application of patient preferences to clinical decision making.

Attitude↗
PubMed2001

APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews.

BACKGROUND & AIMS: The I1307K allele of the APC gene has been shown to confer a modestly elevated risk of colorectal cancer in the Ashkenazi Jewish population (relative risk, 1.5-1.7). However, it is unclear whether the alteration predisposes to adenomas and whether the genetic information can be used in clinical practice. To further address the pathogenic significance of I1307K, we offered both a genetic test and a screening program to individuals considered to be at increased risk for colorectal cancer. We compared the prevalence of polyps and their characteristics between carriers and noncarriers. METHODS: Invitations to participate in a DNA and colonoscopy screening program were mailed, together with a family questionnaire, to 3540 households forming the Jewish Community in Ottawa. The I1307K variant was analyzed in 242 eligible respondents who were selected because they had a personal or family history of colon cancer. Nearly 80% of these respondents (n = 189; age range, 32-83 years) consented to undergo a single colonoscopic examination. RESULTS: The overall carrier frequency of I1307K in the study group was 10.3%. A higher proportion of heterozygous gene carriers was found in the subgroup of colon cancer survivors (27%) than among asymptomatic individuals (8%, P < 0.02). A total of 59 polyps were identified in 44 subjects. Histologically confirmed adenomatous polyps were diagnosed in 11.8% of carriers and 12.8% of noncarriers (P > 0.5). No significant differences in polyp size, multiplicity, location, degree of villosity, or age-dependent prevalence were found between the 2 groups of participants. CONCLUSIONS: The high frequency of I1307K colorectal cancer patients found in the Ashkenazi Jewish community of Ottawa and the equivalent proportion of carriers and noncarriers who developed adenomatous polyps suggest that in this community, I1307K is associated with a significant predisposition to carcinoma but not adenoma.

Adenomatous Polyps↗
PubMed2000

The effect of Kawasaki disease on cognition and behavior.

OBJECTIVE: To determine whether there are associated long-term deficits in the cognitive, academic, or behavioral outcomes of children with a previous episode of Kawasaki disease. DESIGN: Cohort analytic study. SETTING: A tertiary care pediatric hospital in Ottawa, Ontario. PARTICIPANTS: Thirty-two patients with a past diagnosis of Kawasaki disease. Siblings of the patients with Kawasaki disease were eligible to be controls. MEASURES: A blinded psychometrist (Y.K.) assessed cognition by the appropriate Wechsler Intelligence scale, academic achievement by the Wechsler Individual Achievement Test, and behavior by the Achenbach Child Behavior Checklist. RESULTS: No differences were found in cognitive or academic measures and the mean scores corresponded closely to national norms. Parents rated their children who had Kawasaki disease as having significantly more internalizing (P<.03) and attentional (P<.02) behavior problems than controls; the risk of a clinically significant behavioral score was 3.3 times greater (P<.03; 95% confidence interval, 1.1-9.9) than for sibling controls. CONCLUSIONS: While no effect on cognitive development or academic performance was demonstrated, these results provide preliminary indication of a post-Kawasaki disease deficit in internalizing and attentional behavior.

Adolescent↗
PubMed2000

Hydroxychloroquine-induced seizure in a patient with systemic lupus erythematosus.

We report on a case of a 17-year-old female with systemic lupus erythematosus (SLE), with a clinical history of complex partial seizure, who developed a tonicoclonic crisis after receiving hydroxychloroquine for 2 weeks at a dosage of 200 mg/day (5 mg/kg). The absence of previous similar episodes and of recurrences after withdrawal of the drug in subsequent months, the short latency after administration and the favourable short-term evolution raised suspicions for a potential role of the drug in the development of the isolated convulsive crisis. It is possible for hydroxychloroquine to be responsible for tonicoclonic seizures in predisposed subjects.

Adolescent↗
PubMed2000

Ambulatory conservative hemodynamic management of varicose veins: critical analysis of results at 3 years.

This report describes the results of our 3-year experience using ambulatory conservative hemodynamic management (ACHM) for lower extremity venous insufficiency involving the greater saphenous vein (GSV), with specific analysis of recurrence due to neoformation of vessels. We performed 289 ACHM procedures in 259 consecutive patients with GSV-related varicose veins. Follow-up clinical examination and Doppler ultrasound imaging was carried out at 3, 6, 12, 24, and 36 months in all cases to assess formation of neovessels supplied either by the superficial (A) or deep (B) venous system. Our data showed that ACHM achieved excellent improvement, with complete disappearance of varicose veins in 41.2% of cases, good improvement in 43%, fair improvement in 14.1%, and no improvement in 1.7%. The only predictor of outcome was the quality of drainage from the GSV vein. Poor drainage leads to neoformation of vessels supplied by the superficial (A) venous system. In about 50% of cases, drainage appeared spontaneously within 1 year, with a subsequent reduction in formation of neovessels. Neoformation of vessels supplied by the deep (B) venous system (10%) was independent of the quality drainage. This finding suggests that formation of these neovesseis is unrelated to the surgical method used to treat varicose veins. In patients with poor drainage of the saphenous network, neoformation of vessels supplied by the superficial (A) venous system is predictable with regard to both topography and delay. ACHM is a good tool for treatment of varicose veins, as reliable statistical prediction of mid-term results is possible using available models.

Adult↗
PubMed1999

Psychological and social determinants of women's decisions to undergo genetic counseling and testing for breast cancer.

This study examined the demand for breast cancer genetic testing and counseling among Canadian women diagnosed with breast cancer under the age of 50, together with some of the factors predicting both their intentions to be tested and the degree to which they act on their intentions. Participants were 110 women under the age of 50 and comprised of two groups: 1) women diagnosed with breast cancer (BC, n = 60): and 2) an index group of unaffected women from the general population (GP, n = 50). All participants completed a survey that addressed family history of breast and other cancers, demographic variables, knowledge and attitudes about breast cancer, and genetic testing. Members of the BC group were offered genetic counseling and testing for BRCA1 and BRCA2 free of charge. Overall, 60% of participants indicated they would like the test, and 40% either did not want it or were uncertain. Seventy-two percent of women in the BC group wanted to be tested. Of these, only 49% had actually contacted the genetic counselor about testing at follow-up 3-15 months later. Intention to be tested was associated with presence of breast cancer, greater perceived benefits of testing, fewer perceived 'costs' of testing, and higher levels of concern about the risk of relatives developing breast cancer. Actual arranging to meet with the genetic counselor among women in the BC group was associated with fewer perceived costs of having the test. Results suggest a moderate level of interest in gene testing, though intention to be tested may not translate into actual uptake. Women who do choose to have the test may believe the potential 'costs' of using this new genetic technology to be relatively few. This has implications for genetic counselors in terms of providing balanced and complete information to women considering genetic testing for breast cancer susceptibility.

Adolescent↗
PubMed1998

Physician knowledge and attitudes towards molecular genetic (DNA) testing of their patients.

OBJECTIVE: To better define the knowledge and attitudes of practicing physicians about genetics; specifically molecular genetics. Further, to examine differences between four practice specialties and to assess variables that affect both knowledge and attitudes. DESIGN: A mail-in survey was sent to a random sample of non-geneticist physicians, with a second copy sent to non-responders. Questions included sociodemographic variables, sources of current knowledge and education in genetics, clinical experience with genetic disease, self-confidence in providing genetic counseling, attitudes towards referring patients to a genetic center, awareness of molecular genetic testing and attitudes towards its use in clinical practice and population screening. SETTING: Responses were obtained from over 900 practicing physicians in the Canadian province of Ontario (population 10 million). Genetic services are provided through nine major and several outreach centers. Molecular diagnostic services are provided through six provincially funded laboratories. There are no direct costs to the patient for any genetic service. PARTICIPANTS: A random sample of family physicians, obstetricians, pediatricians and internists was surveyed from both private and hospital based practices. RESULTS AND CONCLUSION: Responses varied by specialty, years from graduation, gender, and type of practice. Pediatricians and obstetricians were more knowledgeable about genetics, had more interaction with genetic services and were more supportive of their utility. A major proportion of physicians continue to rely upon undergraduate and medical school courses for knowledge, and the specialties showed different preferences for seeking information. A majority of physicians considered their knowledge of genetics to be adequate, but a minority were confident to provide genetic counseling for simple genetic scenarios. Relatively few had actually made use of DNA diagnostic services and there was relatively poor knowledge of what services were available.

Adult↗
PubMed1998

CAG repeat expansion in an italian family with spinocerebellar ataxia type 2 (SCA2): a clinical and genetic study.

We report an Italian family in which molecular genetic analysis showed expansion of CAG repeats indicative of the SCA2 genotype. This family confirms that ataxia, ophthalmoparesis and sensory peripheral neuropathy are the salient features of the SCA2 phenotype. In the present cases, early onset and mental deterioration were important additional findings. Nerve biopsy findings were compatible with a chronic axonopathy. We found a direct correlation between length of triplet expansion and severity of the clinical symptoms. Of particular interest is the late-onset phenotypical expression in a patient with 34 repeats.

Adult↗
PubMed1998

Saphenous vein sparing surgery: principles, techniques and results.

OBJECTIVE: Evaluation of saphenous vein sparing surgical procedures alternative to high ligation and distal stab avulsion, in terms of effectiveness and suitability for eventual bypass surgery. EXPERIMENTAL DESIGN: Prospective evaluation of 421 operations for primary varicose veins, 64 external valve-plasties of the sapheno-femoral junction (EV-SFJ), (42 performed using the hand sewing technique and 22 using the Veno-cuff device), mean follow-up 52 months, and 357 hemodynamic correction of varicose veins (French acronymis CHIVA), mean follow-up 49 months. Moreover, a subgroup of 27 patients was operated on using the CHIVA technique in two steps, mean follow-up 18 months. SETTING: Institute of General Surgery, University of Ferrara. Institutional practice, one-day surgery. PATIENTS: Patients were selected using clinical and duplex scanning evaluations, and classified according to CEAP criteria. Patients with varicose veins due to sapheno-femoral reflux with duplex scanning evidence of mobile valve leaflets underwent EV-SFJ. The other patients were operated on using the hemodynamic correction technique. INTERVENTIONS: EV-SFJ restores valve function correcting vein wall dilatation by applying an external prosthesis. CHIVA consists of selected ligatures of the superficial veins that allow superficial blood aspiration in the deep veins through the perforators as well as the preservation of saphenous drainage. MEASURES: The outcome was evaluated with independent clinical and ultrasonographic examinations; pre and postoperative AVP and LRR-RT measurements were assessed in 125 cases. Data from self-assessment of the functional and cosmetic result of the patients of the CHIVA group were also obtained using a scoring system. Moreover, scanning the preserved long saphenous vein the rate of long saphenous vein suitable as arterial conduit following sparing surgery was also evaluated. RESULTS: Overall long saphenous vein patency registered after EV-SFJ and CHIVA was 94%. Varicose veins recurrence rate was 12% and 11%, respectively. Postoperative AVP and LRR-RT improvement was statistically significant (p<0.001). CONCLUSIONS: These two alternative procedures seem to be effective in varices treatment following the proposed indications and techniques. In addition, they appear able to preserve a more significant rate of saphenous veins suitable for eventual bypass surgery than high ligation and multiple cosmetic avulsion.

Adult↗