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Biomedical subjects

F Cetta

Publications and source records attributed to F Cetta.

At least 19 recordsLinked to original sources
PubMed2004

Gemcitabine (GEM), 5-fluorouracil (5-FU) and folinic acid (FA) in patients with different gastroenteric malignancies.

This phase II clinical trial was performed in order to evaluate the pharmacokinetics, toxicity and anti-tumor activity of a novel combination of gemcitabine (GEM), 5-fluorouracil (5-FU) and folinic acid (FA) designed on a specific translational basis. Every 4 weeks, 44 patients with various gastroenteric malignancies, 29 of whom had pancreas carcinoma, received a short intravenous (i.v.) infusion of FA (100 mg/m2) and 5-FU (400 mg/m2) on days 1-5, and GEM 1000 mg/m2 on days 1, 8 and 16. Our results suggest that, although this treatment leads to hematological and gastroenteric toxicity, it is very active in patients with pancreatic carcinoma. We therefore believe that an improved version would merit further investigation in larger scale trials.

Adenocarcinoma↗
PubMed2001

Early detection of cardiac dysfunction: use of the myocardial performance index in patients with anorexia nervosa.

OVERVIEW: Patients with anorexia nervosa have functional cardiac abnormalities secondary to their nutritionally depleted state. These abnormalities include decreased left ventricular (LV) mass and varying degrees of LV systolic dysfunction. Assessment of LV diastolic function and quantitative assessment of right ventricular function are not routinely performed. The myocardial performance index (MPI) is a relatively new, simple, quantitative measure of global myocardial function. The purpose of this study was to evaluate left and right ventricular function in 13 patients with anorexia nervosa with the MPI and compare it to more commonly used echocardiographic measures of ventricular function.

Adolescent↗
PubMed2001

Quantitative assessment of fetal ventricular function: establishing normal values of the myocardial performance index in the fetus.

OBJECTIVE: Assessment of ventricular function in the fetus has been limited for many reasons, including relative cardiac size and atypical orientation of fetal cardiac structures. A myocardial performance index (MPI) has been described in adult and pediatric populations as an echocardiographic measure of global (systolic and diastolic) ventricular performance. Because the MPI is a Doppler index, it is independent of ventricular geometry and can be applied to both left and right ventricular function. This study attempts to define the MPI in a group of normal fetuses and compare these data to other published studies of this index. STUDY DESIGN: The right ventricular (RV) and left ventricular (LV) MPI were measured in 125 normal fetuses (20--40 weeks gestation, mean age 28 weeks). These fetuses were divided into five gestational age groups for comparison. These data were compared to 152 normal children (age 3--18 years, mean age 9.3 years). RESULTS: In normal fetuses, the LV MPI was 0.36 +/- 0.06 and the RV MPI was 0.35 +/- 0.05. This was not statistically different from the group of normal children in whom the LV MPI was 0.35 +/- 0.03 and the RV MPI was 0.32 +/- 0.03. In addition, no significant change in the fetal MPI was seen with advancing gestational age. CONCLUSION: This study demonstrates that fetal ventricular function can be quantitatively measured with the MPI. The MPI provides an easily obtainable and reproducible measure of fetal ventricular performance that can be readily incorporated into all fetal echocardiographic examinations.

Adolescent↗
PubMed2001

Unusual finding of cor triatriatum in a newborn with hypoplastic left heart syndrome.

Cor triatriatum is a rare anomaly in which the left atrium is partitioned into 2 distinct chambers with a variable degree of obstruction to left atrial inflow. This anomaly often occurs in isolation but can occur in combination with other cardiac lesions. The association of cor triatriatum with hypoplastic left heart syndrome has not been reported. We describe a newborn with hypoplastic left heart syndrome who also had the unusual finding of cor triatriatum sinistrum.

Cor Triatriatum↗
PubMed2001

Thyroid carcinoma usually occurs in patients with familial adenomatous polyposis in the absence of biallelic inactivation of the adenomatous polyposis coli gene.

Papillary thyroid carcinoma (PTC) is a rare extracolonic manifestation of familial adenomatous polyposis, determined by germline mutations of the adenomatous polyposis coli (APC) gene. The aim of this study was to assess the presence of loss of heterozygosity of APC in the thyroid tumoral tissue. Specimens from six female patients, aged 20-36, were analyzed for germline and somatic mutations of the APC gene by restriction enzyme analysis and sequence analysis. Five of the six also had analysis for ret/PTC, a chimeric gene, the activation of which is restricted to papillary TC. Because a previous study showed that germline mutations in familial adenomatous polyposis-associated thyroid carcinoma were located between codons 140 and 1513, the search for somatic mutations of the APC gene was restricted to this genomic area. Three of the six patients, belonging to the same kindred, had a germline mutation at codon 1061. The remaining three, one per kindred, had germline mutations at codons 1061, 1061, and 1309, respectively. None of the six patients had loss of heterozygosity for APC or somatic mutation in the explored genomic area (codon 545 and codons 1061-1678). Four of five had activation of ret/PTC in the thyroid tumoral tissue, as ret/PTC1 isoform. Either APC has a tissue-specific dominant effect in the thyroid gland or the germline mutation confers a generic susceptibility to cancer development, but other factors (sex-related factors, environmental radiation, modifier genes) are also required for TC development. This usually involves ret/PTC activation, suggesting a possible cooperation between altered function of APC and gain of function of ret.

Adenomatous Polyposis Coli↗
PubMed2000

Gaining vascular access in pediatric patients: use of the P.D. access Doppler needle.

This article describes our initial experience with the P.D. Access Doppler needle for obtaining vascular access in pediatric patients. Patients were considered for use of the P.D. Access Doppler needle (Escalon Vascular Access, New Berlin, WI) if they had a history of difficult access or body habitus limitations to vascular access. An 18-, a 20-, or a 22-gauge bare needle with an inserted Doppler stylet was utilized. The time from initial subcutaneous entry of the Doppler needle until wire placement into the vessel lumen was recorded. Initial attempts to cannulate were performed with standard Seldinger technique. If attempts with the standard technique were unsuccessful, then P.D. Access was utilized. However, P.D. Access was used primarily in small children for internal jugular vein cannulation or in patients with coarctation who had absent/diminished femoral pulses. P.D. Access cannulation was attempted 39 times (31 patients). Median age is 23 months (range, 1 day to 15 years). Median weight is 10.5 kg (range, 1.7-57 kg). These patients had a mean of two prior cardiac catheterizations and/or surgeries (range, 0-6 procedures). Use of P.D. Access resulted in successful cannulation in 35/39 (90%) attempts. In successful outcomes, the time from initial subcutaneous entry to cannulation is 6.5+/-4.9 min. In unsuccessful outcomes, failure was due to prior hematoma formation, operator inexperience, or prior vessel occlusion. Successful use of P.D. Access shortens the duration of vascular access in difficult pediatric patients. In our cardiac catheterization laboratory, this technique has become the preferred initial entry technique for cannulation of the internal jugular vein in small children. In addition, this technique was particularly useful for femoral artery cannulation in patients with coarctation of the aorta with absent/diminished femoral pulses.

Adolescent↗
PubMed2000

Long-term outcome in congenitally corrected transposition of the great arteries: a multi-institutional study.

OBJECTIVES: The purpose of this study was to determine long-term outcome in adults with congenitally corrected transposition of the great arteries (CCTGA), with particular emphasis on systemic ventricular dysfunction and congestive heart failure (CHF). BACKGROUND: Patients with CCTGA have the anatomical right ventricle as their systemic pumping chamber, with ventricular dysfunction and CHF being relatively common in older adults. METHODS: Retrospective analysis of records of 182 patients from 19 institutions were reviewed to determine current status and possible risk factors for systemic ventricular dysfunction and CHF. Factors considered included age, gender, associated cardiac defects, operative history, heart block, arrhythmias and tricuspid (i.e., systemic atrioventricular) regurgitation (TR). RESULTS: Both CHF and systemic ventricular dysfunction were common in groups with or without associated cardiac lesions. By age 45, 67% of patients with associated lesions had CHF, and 25% of patients without associated lesions had this complication. The rates of systemic ventricular dysfunction and CHF were higher with increasing age, the presence of significant associated cardiac lesions, history of arrhythmia, pacemaker implantation, prior surgery of any type, and particularly with tricuspid valvuloplasty or replacement. Aortic regurgitation (a previously unreported problem) was also relatively common in this patient population. CONCLUSIONS: Patients with CCTGA are increasingly subject to CHF with advancing age; this complication is extremely common by the fourth and fifth decades. Tricuspid (systemic atrioventricular) valvular regurgitation is strongly associated with RV (anatomical right ventricle connected to aorta in CCTGA patients; systemic ventricle in CCTGA) dysfunction and CHF; whether it is causative or a secondary complication remains speculative.

Adult↗
PubMed2000

Germline mutations of the APC gene in patients with familial adenomatous polyposis-associated thyroid carcinoma: results from a European cooperative study.

Papillary thyroid carcinoma (PTC) is one extracolonic manifestation affecting about 1-2% of patients with familial adenomatous polyposis (FAP). Ninety-seven patients with FAP-associated PTC have previously been reported, including 6 pairs of siblings. During a European collaborative study, 15 patients with FAP-associated PTC were collected. All 15 patients were females. The mean age at thyroidectomy was 24.9 yr (range, 19-39 yr). In 13 subjects, APC germline mutations had been detected; they were at codons 140, 593, 778, 976, 993, 1061 (n = 5), 1105 (n = 1), and 1309 (n = 2), respectively. A review of the literature added 11 other patients with FAP-associated PTC and detection of germline APC mutations; they were at codons 313 (n = 2), 698 (n = 3), 848 (n = 2), 1209 (n = 2), 1061 (n = 1), and 1105 (n = 1), respectively. The latter led to formation of the same stop codon (TAA) at 1125-1126 as the mutation at codon 1061. Therefore, 21 of 24 mutations were in exon 15 in the genomic area usually associated with congenital hypertrophy of the retinal pigment epithelium (CHRPE), i.e. codons 463-1387. Typical CHRPE was found in 17 of 18 affected patients who had specific screening. Interestingly, 22 of the 24 patients had their mutation out of the mutation cluster region (codons 1286-1513), which is currently considered the hot spot mutation area, in particular for extracolonic manifestations of FAP. The difference in the incidence of germline mutations before and after codon 1220 between PTC and non-PTC FAP patients was statistically significant (P<0.05) for both patients and kindreds (P = 0.005 and P = 0.049, respectively). Even if most mutations were scattered throughout the entire 5'-portion of exon 15, 8 of 23 patients (6 with mutation at 1061 and 2 with mutation at 1105; i.e. more than one third) had the same truncated protein product. The awareness that patients with PTC usually have APC mutations that cluster in a well defined genomic area, in addition to giving a deeper insight into gene function, could facilitate both earlier diagnosis and better treatment. In particular, intensive screening for thyroid nodules after age 15 yr is recommended when a single patient or an entire kindred have CHRPE and/or mutations in the 5'-portion of exon 15.

Adenomatous Polyposis Coli↗
PubMed2000

Unusual association of hypertrophic cardiomyopathy with complete atrioventricular canal defect and Down syndrome.

Hypertrophic cardiomyopathy typically presents as an isolated cardiac lesion. Transient hypertrophic cardiomyopathy in infancy has been described as a result of exposure to maternal metabolic disorders or to corticosteroids. In addition, hypertrophic cardiomyopathy has been described in association with genetic syndromes and, in rare cases, as a primary lesion associated with other congenital heart defects. We describe the unusual association of hypertrophic cardiomyopathy and complete atrioventricular canal defect in an infant with trisomy 21.

Cardiomyopathy, Hypertrophic↗
PubMed1999

Extended end-to-end repair and enlargement of the entire arch in complex coarctation.

BACKGROUND: Treatment of hypoplasia of the entire arch in coarctation is a surgical challenge. The current approaches have technical difficulties, high recurrence rates, and increased morbidity and mortality. METHODS: Over a 14-month period, a combined extended end-to-end repair with patch enlargement of the concavity of the entire arch was performed in 6 neonates and 1 infant. Through a midsternotomy and using cardiopulmonary bypass and hypothermia, extended end-to-end repair was performed initially leaving the proximal anastomosis open. The enlarging polytetrafluoroethylene patch was then sutured starting at the incised descending aorta distal to the extended end-to-end repair and continued retrogradely through the transverse arch to the ascending aorta proximal to the aortic cannulation site. One neonate had a patent ductus arteriosus and another had ventricular septal defect closure. One neonate had arterial switch and 3 had Norwood-type procedures performed with the enlarging patch extended to the pulmonary artery anastomosis. The remaining infant had arch enlargement performed after an arterial switch procedure and extended end-to-end repair. RESULTS: All patients did well and showed no residual gradient up to 1 year follow-up. Two patients successfully had bidirectional Glenn shunt at 9 months of age, and one had closure of residual arterial septal defect at 8 months of age. CONCLUSION: The combined extended end-to-end repair and arch enlargement procedure should minimize recurrence rates because of a tension-free enlargement of the entire aortic arch and elimination of the coarctation ridge and ductile tissues. Combined with the arterial switch and Norwood-type procedures, the approach results in a large neoaorta.

Anastomosis, Surgical↗