PubMed Health⌕ Search

Biomedical subjects

Francesco Papadia

Publications and source records attributed to Francesco Papadia.

At least 19 recordsLinked to original sources
PubMed2007

Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a congenital disorder characterised by growth retardation, facial dysmorphisms, skeletal abnormalities and mental retardation. Broad thumbs and halluces are the hallmarks of the syndrome. RSTS is associated with chromosomal rearrangements and mutations in the CREB-binding protein gene (CREBBP), also termed CBP, encoding the CREB-binding protein. Recently, it was shown that mutations in EP300, coding for the p300 protein, also cause RSTS. CBP and EP300 are highly homologous genes, which play important roles as global transcriptional coactivators. OBJECTIVE: To report the phenotype of the presently known patients with RSTS (n = 4) carrying germline mutations of EP300. RESULTS: The patients with EP300 mutations displayed the typical facial gestalt and malformation pattern compatible with the diagnosis of RSTS. However, three patients exhibited much milder skeletal findings on the hands and feet than typically observed in patients with RSTS. CONCLUSIONS: Part of the clinical variability in RSTS is explained by genetic heterogeneity. The diagnosis of RSTS must be expanded to include patients without broad thumbs or halluces.

Adult↗
PubMed2005

Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

CREB-binding protein and p300 function as transcriptional coactivators in the regulation of gene expression through various signal-transduction pathways. Both are potent histone acetyl transferases. A certain level of CREB-binding protein is essential for normal development, since inactivation of one allele causes Rubinstein-Taybi syndrome (RSTS). There is a direct link between loss of acetyl transferase activity and RSTS, which indicates that the disorder is caused by aberrant chromatin regulation. We screened the entire CREB-binding protein gene (CBP) for mutations in patients with RSTS by using methods that find point mutations and larger rearrangements. In 92 patients, we were able to identify a total of 36 mutations in CBP. By using multiple ligation-dependent probe amplification, we found not only several deletions but also the first reported intragenic duplication in a patient with RSTS. We extended the search for mutations to the EP300 gene and showed that mutations in EP300 also cause this disorder. These are the first mutations identified in EP300 for a congenital disorder.

Acetyltransferases↗
PubMed2005

Long-term effect of biliopancreatic diversion on blood pressure in hypertensive obese patients.

BACKGROUND: The weight loss surgically induced by gastroplasty or gastric banding has only a transitory effect on the arterial hypertension of the severely obese patients, and a prevalence of hypertension similar to that of controls has been reported 8 years after the operation. METHODS: We studied the effects of biliopancreatic diversion in a series of 73 severely obese patients with preoperative hypertension throughout a 10-year follow-up period. Body weight dropped from 135.5 kg to 84.8 kg and remained substantially unchanged during the entire 10-year period, hypertension resolved in 41 subjects within the first postoperative year and the resolution rate increased slightly and progressively with time: at 10 years only 15 subjects were still hypertensive. Mean systolic and diastolic blood pressure (BP) value decreased within the first postoperative year as well as the pulse pressure (mean +/- standard deviation from 168 +/- 25 to 143 +/- 22 mm Hg, from 105 +/- 18 to 88 +/- 13 mm Hg, and from 65 +/- 16 to 50 +/- 13 mm Hg, respectively) and remained essentially unchanged throughout all the follow-up; 10 years after surgery the systolic BP and pulse pressure values (127 +/- 14 mm Hg and 42 +/- 6 mm Hg, respectively) were significantly lower than those observed at shorter term. CONCLUSIONS: In severely obese patients with arterial hypertension, the weight loss determined by biliopancreatic diversion in most cases is accompanied by the normalization of BP, which remains into physiological range until very long term.

Adult↗
PubMed2005

Effect of biliopancreatic diversion on hypertension in severely obese patients.

Hypertension is a medical disorder frequently associated with severe obesity, and the effect of weight loss on the reduction of blood pressure has been well established. In this study, the relationships between the weight loss surgically obtained by biliopancreatic diversion and blood pressure were investigated in a population of severely obese patients with preoperative hypertension. At 1 year following the operation, blood pressure was normalized in more than half of patients; in a further 10% of cases the hypertensive status resolved within the 3-year follow-up period. The resolution of hypertension was independently associated with age and body weight and was unrelated to sex, the amount of weight loss, or body fat distribution. In severely obese patients with hypertension undergoing bariatric surgery, biliopancreatic diversion is advisable since it achieves and supports the maintenance of body weight close to the ideal value.

Adult↗
PubMed2005

Magnetic resonance spectroscopy facilitates assessment of intramyocellular lipid changes: a preliminary short-term study following biliopancreatic diversion.

BACKGROUND: Intramyocellular content of lipid (IMCL) appears to be important in the pathogenesis of insulin resistance, and the improvement of insulin activity observed following biliopancreatic diversion (BPD) for obesity has to be related to reduction of IMCL. This study evaluates the possibility of detecting changes after BPD in IMCL by means of H1 magnetic resonance spectroscopy. METHODS: The investigation was carried out in obese patients undergoing BPD prior to and at 1 month following the operation. Insulin sensitivity was assessed according to the homeostatic model of assessment (HOMA), and IMCL was determined by the spectroscopy of the tibialis anterior muscle. RESULTS: At 1 month following BPD, an improvement in insulin action was observed in all subjects, and in nearly all cases the IMCL signal decreased. CONCLUSION: The data from this study indicate that magnetic resonance spectroscopy can detect IMCL changes following BPD and is fully suitable for longitudinal studies on muscle metabolic status.

Adult↗
PubMed2004

A 15-year evaluation of biliopancreatic diversion according to the Bariatric Analysis Reporting Outcome System (BAROS).

BACKGROUND: Biliopancreatic diversion (BPD) is the most effective bariatric procedure in terms of weight loss. However, analysis of the quality of life (QoL) has never been reported. The BAROS, giving a score to each operated patient on weight loss, improvement in medical conditions, QoL, complications and reoperations, has proven to be a standard reference for evaluating bariatric surgery outcomes. METHODS: In order to apply the BAROS to BPD, we sent a questionnaire to 1,800 BPD patients who had been operated between 1984 and 1998. The response-rate was 51.2%. Out of 1,709 questionnaires which actually reached their destination, we had 858 fully compiled returned. There were 615 women. 596 patients had had an ad hoc stomach (AHS) BPD, and 262 had had an ad hoc stomach ad hoc alimentary limb (AHS-AHAL) BPD. RESULTS: According to the scoring key, 3.5% were classified as a failure, 11% were fair results, 22.8% good, 39.5% very good, and 23.2% excellent results. Considering AHS BPD and AHS-AHAL BPD separately,while the mean excess weight percent loss was 70.5+/-23 and 64.7+/-17 respectively, the failure rate was 6% in the first group and 2% in the AHAL group, while 11% and 6% of cases respectively were fair results, 24% and 20% good, 36% and 47% very good, 23% and 25% excellent results. CONCLUSION: The BAROS evaluation of BPD highlights the importance of its flexibility: the new policy of adapting the procedure to individual characteristics caused a drop in the failure rate and an increase in good, very good and excellent results.

Adult↗
PubMed2003

Short-term liver function after biliopancreatic diversion.

BACKGROUND: Liver failure after biliopancreatic diversion (BPD) has been reported. Although in our series of 2,515 BPD with a minimum follow-up of 12 months we have never observed this complication, a transitory and significant rise in serum AST and ALT has been detected in some cases, suggesting the occurrence of transient liver damage. To assess if risk factors for acute liver damage after BPD could be identified, we studied the evolution of hepatic biochemistry in a sample of our operated subjects. METHODS: We studied 99 consecutive patients submitted to the same type of BPD (ad hoc stomach, ad hoc alimentary limb). Patients with a history of alcohol consumption or positive hepatic serology were excluded. Preoperative body weight (BW), body mass index (BMI), excess weight (EW), % excess weight (%EW), fasting serum glucose level (SG), hepatic histology (HI), weight loss (WL) at 2, 4 and 12 months, and excess weight % loss (IEW%L) at the same time were correlated with preoperative and 2, 4 and 12 months hepatic biochemistry. RESULTS: Compared with preoperative values, AST levels at 2 months significantly increased (Student's t-test, P=0.0003) and significantly decreased at 12 months (P=0.0001). Spearman's Rank test showed significant correlations between 2 months AST levels and WL at 2 months (P =0.005), preoperative BW (P <0.0001), SG (P =0.01), and HI (inflammation P<0.0001, fibrosis P=0.001). CONCLUSION: Hepatocellular necrosis in our series peaks at 2 months, and decreases afterwards.WL at 2 months, preoperative BW, SG and HI seem to be of help in identifying patients at increased risk for acute liver damage, prompting the need for an enhanced surveillance.

Adolescent↗
PubMed2003

Leptin and insulin action in severely obese women.

BACKGROUND: The authors investigated the interrelationships between the components of the metabolic syndrome in severe obesity. METHODS: In non-diabetic, severely obese women, the degree of obesity (BMI), the insulin sensitivity (from the Homeostatic Model of Assessment, HOMA), the serum leptin concentration and the presence of dyslipidemia and arterial hypertension were evaluated. RESULTS: In insulin-resistant patients, an overall impaired metabolic status and a greater cardiovascular risk were observed, while serum leptin concentration was higher than in the insulin-sensitive ones. Leptin levels and HOMA data correlated independent of BMI findings, while the presence of dyslipidemia and hypertension was unrelated to the other metabolic syndrome factors. CONCLUSION: In severely obese women, although other factors independently intervene, serum leptin has a role in developing the metabolic syndrome.

Female↗
PubMed2002

Relationships of serum leptin to clinical and anthropometric findings in obese patients.

BACKGROUND: The authors evaluated the relationship between leptin and the clinical, anthropometric and metabolic variables connected to the metabolic syndrome in obese individuals. METHODS: A large group of patients with different degrees of obesity was investigated: body mass index (BMI) values, serum leptin, fasting glucose and insulin, triglycerides and HDL-cholesterol concentrations, insulin resistance index and blood pressure were measured. RESULTS: On multiple regression analysis, serum leptin levels appeared to be positively correlated to the BMI and to the serum HDL-cholesterol concentration. Principal component factor analysis revealed three factors, explaining 61.3% of the total variance of the sample. General features of these factors were: factor 1--BMI values and serum leptin and fasting glucose concentration; factor 2--systolic and diastolic blood pressure and serum triglycerides and HDL-cholesterol concentration; factor 3--fasting serum insulin concentration and insulin resistance index. CONCLUSIONS: In obese subjects multiple factors underlie the metabolic syndrome and therefore more than one mechanism may account for the clustering characteristics. In obese patients leptin loads only one factor, and therefore leptin does not appear to be a key feature in the metabolic syndrome. On the contrary, multiple correlation and factor analysis data give rise to the hypothesis that in obese patients, leptin may play a protective role against cardiovascular risk.

Adolescent↗
PubMed2002

Radiology of patients with vertical banded gastroplasty.

BACKGROUND: The authors evaluated the usefulness of routine traditional radiology in the management of patients submitted to VBG. METHODS: Radiological findings in 65 subjects who had undergone VBG were evaluated. Post-surgical clinical and radiological examinations were performed 3 days, 1, 4 and 12 months after surgery. Upper GI symptoms, gastroesophageal imaging and 80% solid meal pouch emptying time were recorded. RESULTS: The routine postoperative study, in the absence of clinical symptoms, showed no unsuspected complication in any patient, both in the early and in the late postoperative period. There was no significant correlation at 4 and 12 months between emptying time and duration of satiation, emptying time and percent excess weight loss (%EWL), and duration of satiation and %EWL. CONCLUSIONS: Traditional radiological studies can be safely omitted from both the immediate postoperative period and from the long-term follow-up in asymptomatic VBG patients. The studies were not helpful in understanding functional changes leading to weight loss after VBG.

Adult↗
PubMedDate not supplied

Thirteen years of follow-up in patients with adjustable silicone gastric banding for obesity: weight loss and constant rate of late specific complications.

BACKGROUND: Despite its simplicity, safety and good short-term results, progressive weight regain and a high incidence of complications have been reported after the adjustable silicone gastric banding (ASGB). The aim of this study is to evaluate the long-term results of this operation in our patient population. METHODS: Between 1990 and 1996, 45 morbidly obese patients underwent insertion of an ASGB. The trend of the patients' BMI over time was studied using a linear mixed effect model adjusted for the preoperative BMI. So as to estimate the cumulative probability of band removal and the cumulative hazard function, Lambda(t) Kaplan-Meier analysis was used. RESULTS: 1 year after the operation, the average BMI was 79% of its preoperative value, which then increased linearly over time. The slope of the regression line was estimated at beta =0.42, indicating an average increase of 0.42 BMI units per year. 27 bands (60%) were removed because of specific late complications. The cumulative risk of band removal increased linearly with time. The hazard rate was estimated to be lambda =0.008 events/patient/month, corresponding to 0.1 events/patient/year. CONCLUSIONS: ASGB yielded good short-term results, but the progressive weight regain and constant risk of complications in the long term tend to nullify the optimism.

Adult↗