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Biomedical subjects

C Pratesi

Publications and source records attributed to C Pratesi.

At least 19 recordsLinked to original sources

Routine completion angiography during carotid endarterectomy is not mandatory.

OBJECTIVE: Intraoperative quality control after carotid endarterectomy (CEA) has been advocated to improve the results of surgical treatment of extracranial carotid artery disease. The aim of this study was to evaluate the usefulness of completion angiography (CA) in prevention of stroke and restenosis after CEA in a single center experience. MATERIALS AND METHODS: Data concerning 914 consecutive CEAs performed in 3 years (2000-2002) were prospectively collected in a dedicated database. Patients were divided into two groups: in the first group (mandatory-CA group; 430 cases) CA was routinely carried out, except in presence of contraindications to iodinate contrast agents; in the second group (selective-CA group, 484 cases) CA was performed only in selected cases, at surgeon's discretion. RESULTS: There were no significant differences between the two groups in terms of neurological complications at awakening (0.5% in mandatory-CA group and 0.4% in selective-CA group; p=n.s.) and in 30-day stroke and death rate (1.9% and 1.4%, respectively; p=n.s.). A surgical revision on the basis of CA findings was performed in 5 cases in mandatory-CA group and in 2 cases in selective-CA group (1.2% and 0.4%, respectively; p=n.s.). In the second group, the conditions significantly associated with the need for CA examination were internal carotid near-occlusion, preoperative symptoms, shunt insertion, kind of surgical reconstruction, redo surgery. Estimated absence of ipsilateral stroke and absence of restenosis at 18 months was 98.9% and 89.7% in mandatory-CA group and 99.3% and 93.4% in selective-CA group (p=n.s.) respectively. CONCLUSIONS: Based on our experience, routine CA following CEA is not suggested. A policy of selected CA at the surgeon's discretion seems to make the intervention safe and durable as well.

Aged↗

SDH mutations in patients affected by paraganglioma syndromes: a personal experience.

Mutations in genes encoding mitochondrial succinate dehydrogenase (SDH) are frequently involved in the development of neural crest-derived (NCD) tumors, such as pheochromocytomas (PHEOs) or paragangliomas (PGLs). In this study we report the results of sequencing analysis in leukocyte DNA of patients affected by PHEO/PGL who turned out to be SDH mutation carriers. A nonsense germline heterozygous mutation (Q109X) was found in the exon 4 of the SDHD gene in the index cases of six unrelated families affected by PHEO/PGL. Haplotype analysis showed the presence of a founder effect. Affected patients showed high clinical variability, ranging from monolateral to bilateral glomus tumors, variably associated or not with PGLs or PHEOs. A novel missense SDHD variant, T112I, was also found in one of our families. A new missense G106D mutation, involving a highly conserved amino acid, was found in two sisters affected by bilateral glomus tumors. A P81L mutation associated with abdominal and head and neck PGL was detected in three families. A G12S variant of the SDHD gene was found in one patient affected by a PHEO. The finding of this variant in 3 of 100 control subjects suggests that it is a polymorphism and not a mutation. A novel IVS2-1G>T variant was found at intron 2 of SDHD gene in one patient affected by a glomus tumor. All the tumors associated with SDHD mutations were benign. Conversely, the only mutation we found in SDHB gene (IVS3+1G>A) was associated with a malignant PHEO.

Amino Acid Sequence↗

ACE DD genotype: a predisposing factor for abdominal aortic aneurysm.

OBJECTIVE: To examine the role of polymorphisms in angiotensin converting enzyme (ACE, I/D) and angiotensin II receptor (AT1R, A1166C) in the development of abdominal aortic aneurysm (AAA). MATERIALS AND METHODS: We investigated 250 consecutive patients, 217 males and 33 females (median age 72, range 50-83), undergone AAA elective repair and 250 healthy controls, comparable for sex and age. ACE and AT1R polymorphisms were studied by PCR-RFLP analysis. The genotype distribution was in Hardy-Weinberg equilibrium for all polymorphisms. RESULTS: The genotype distribution and allele frequency of ACE I/D, but not AT1R A1166C polymorphism were significantly different between patients and controls (ACE I/D: p=0.0002 and p<0.0001, respectively, and AT1R A1166C: p=0.6 and p=0.4, respectively). An association between the ACE DD genotype and the predisposition to AAA was found (OR DD vs. ID+II=1.9 95% CI 1.3-2.9, p<0.0001). Multivariate analysis adjusted for age, sex, traditional vascular risk factors and other atherosclerotic localizations, showed ACE DD genotype to be independently related to the disease (OR DD vs. ID+II=2.4, 95% CI 1.3-4.2 p=0.003). CONCLUSIONS: Our findings document that ACE DD genotype represents a susceptibility factor for AAA.

Aged↗

Thrombophilic risk factors in patients with severe carotid atherosclerosis.

Carotid stenosis and atrial fibrillation are the strongest risk factors for ischemic stroke. Ongoing prevention efforts include the identification of novel factors that increase the risk for carotid atherosclerosis. The aim of this study was to determine the thrombophilic risk profile of patients with severe carotid stenosis by evaluating a number of genetic and metabolic risk factors [factor (F)II G20210A, factor V Leiden, MTHFR C677T polymorphisms, anticardiolipin antibodies (aCL), lipoprotein(a) (Lp(a)), and homocysteine (Hcy)]. The study population consisted of 615 patients [(410 M/205 F; median age 73 (26-94) years] with severe (> 70%) carotid stenosis, and 615 apparently healthy subjects [(410 M/205 F; age 73 (31-92) years]. On multivariate analysis, independent risk factors were elevated Hcy [odds ratio (OR) 7.6, 95% confidence interval (CI) 4.8, 11.8] and Lp(a) levels (OR 2.9, 95% CI 2.1, 3.9), the presence of aCL (OR 5.7, 95% CI 3.1, 10.4) and heterozygosity for FII G20210A polymorphism (OR 2.8, 95% CI 1.3, 5.9). In the subgroup of women, independent risk factors for severe carotid atherosclerosis were: high levels of Hcy and Lp(a) and the presence of aCL, whereas hyperhomocysteinemia, elevated Lp(a) levels, aCL, FII G20210A and MTHFR 677TT polymorphisms remained independent risk factors in the subgroup of men. The results of the present study demonstrate that the prevalence of the thrombophilic risk factors is increased in patients with severe carotid atherosclerosis.

Adult↗

Phenotype variability of neural crest derived tumours in six Italian families segregating the same founder SDHD mutation Q109X.

BACKGROUND: Mutations in genes coding for the mitochondrial complex II succinate dehydrogenase (SDH) subunits cause familial neural crest derived (NCD) tumours. METHODS: Index cases from six apparently unrelated families affected by NCD tumours were analysed for mutations in the SDHB, SDHC, and SDHD genes. RESULTS: The same nonsense germline heterozygous mutation (Q109X) in exon 4 of the SDHD gene was found in each of the six families. Overall, 43 heterozygotes were identified. These were evaluated for the presence of NCD tumours through radiological examination of the neck, thorax, and abdomen, and measurement of urinary metanephrines and plasma chromogranin A. A novel missense SDHD variant, T112I, which did not segregate with the Q109X mutation and was not associated with phenotypic manifestations, was observed in one of the families. Microsatellite analysis showed a common haplotype in all individuals heterozygous for the Q109X mutation, indicating a founder effect. Overall, 18 heterozygotes were clinically affected by at least one NCD tumour. Every affected patient inherited the germline mutation from the father, confirming SDHD maternal genomic imprinting. Penetrance of the paternally inherited mutation progressively increased from 33% to 83% at 30 and 60 years, respectively. Affected patients showed high clinical variability, ranging from monolateral to bilateral glomus tumours variably associated or not with paragangliomas or phaeochromocytomas. Loss of heterozygosity was observed in tumour cells isolated by laser capture microdissection. CONCLUSIONS: This study shows that a single founder SDHD mutation is present in an area of central Italy and that this mutation is associated with widely variable interfamilial and intrafamilial expressivity.

Adult↗

Influence of eNOS gene polymorphisms on carotid atherosclerosis.

INTRODUCTION: Nitric oxide (NO) is an endothelium-derived relaxing factor which plays a role in atherogenetic events. Polymorphisms in the endothelial NO synthase gene (eNOS) influences the functional activity of the enzyme and affect the susceptibility to atherogenesis. In this study we determined whether T-786C, G894T and 4a/4b eNOS genetic variants may increase the susceptibility to carotid atherosclerosis. METHODS: The study groups included 304 consecutive patients with severe carotid stenosis (>/=70%) and 544 control subjects. The eNOS polymorphisms were analysed by molecular biology techniques. RESULTS: The genotype distribution and allele frequency of eNOS 4a/4b, but not T-786C and G894T, polymorphism was significantly different between patients and controls. Using logistic regression with adjustment for other risk factors, the 4a allele and the combined genotype 4a4a+4a4b/894TT+GT and -786CC+TC/894TT+GT were associated with carotid stenosis (OR=1.5, p=0.02; OR=1.8, p=0.01; OR=1.5, p=0.04, respectively). In a subset of patients (30 of 304) with no traditional risk factors for atherosclerosis, a relatively high incidence of the 4a allele and 4a4a+4a4b/-786CC+TC combined genotype was noted. DISCUSSION: Our findings suggest that the 4a allele and the eNOS combined genotypes are independent predisposing factors to carotid atherosclerosis.

Adult↗

Reducing the risk of intraoperative neurological complications during carotid endarterectomy with early distal control of the internal carotid artery.

AIM OF THE STUDY: To assess the feasibility and effectiveness of a modified surgical technique with early clamping of the distal internal carotid artery (ICA) during carotid endarterectomy in a single centre experience. STUDY DESIGN: Retrospective study, teaching hospital. MATERIAL AND METHODS: Between 1996 and 2002, 2235 CEAs were performed. Until April 1999, the intra-operative strategy consisted of standard isolation and dissection of the carotid bifurcation preliminary to ICA clamping (group 1; 1090 interventions). Starting from May 1999, we performed early isolation and clamping of the distal ICA, followed by dissection of the carotid bifurcation and clamping of the external and common carotid artery (group 2; 1145 interventions). RESULTS: The modified technique was feasible in all the patients of group 2. In group 2 there was a significantly lower incidence of neurological deficit on waking than in group 1 (0.4% and 1.8%, respectively; p=0.02). CONCLUSIONS: Early distal control of the internal carotid artery during CEA is feasible and could contribute to reducing intra-operative neurological events.

Carotid Artery, Internal↗

Periodontal pathogens in atheromatous plaques. A controlled clinical and laboratory trial.

OBJECTIVE: A possible relationship between periodontitis and cardiovascular disease has been suggested. The aims of this controlled clinical study were: (i) to ascertain the presence of periodontal bacteria DNA [Actinobacillus actinomycetemcomitans, Fusobacterium nucleatum, Porphyromonas gingivalis, Prevotella intermedia, Tannerella forsythensis (formerly Bacteroides forsythus)] in carotid atheromatous plaques and (ii) to assess the concomitant presence of the same periodontal bacteria DNA, if any, in periodontal pockets and in carotid atheroma in the same patient. METHODS: A total of 52 patients scheduled for carotid endarderectomy were enrolled in this study. The test group consisted of 26 dentate patients; the control group included 26 edentulous patients. A complete periodontal examination, including radiographic orthopanoramic and subgingival plaque sample, was performed in the test population. Oral and X-ray examinations were performed in the control group. Atheromatous plaques were harvested during surgical procedure for each dentate and edentulous patient and then sent to the microbiological laboratory. Subgingival plaque samples and carotid specimens were examined using the polymerase chain reaction (PCR) technique by means of specific primers for periodontal bacteria. Amplification of extracted DNA was tested using human beta-globin specific-primers. RESULTS: Out of 52 endarterectomy samples, 12 (seven dentate, five edentulous patients) were excluded as negative to DNA amplification. In subgingival plaque samples of 19 test patients, T. forsythensis (79%), F. nucleatum (63%), P. intermedia (53%), P. gingivalis (37%) and A. actinomycetemcomitans (5%) were found. No periodontal bacteria DNA was detected by PCR in any of the carotid samples in either patient group. CONCLUSION: The presence of periodontal bacteria DNA in atheromatous plaques could not be confirmed by this study and thus no correlation could be established between species associated with periodontal disease and putative bacteria contributing to atheromatous plaques.

Aged↗

Early and long-term results of conventional surgical treatment of secondary aorto-enteric fistula.

OBJECTIVE: To retrospectively evaluate early and late results of surgical treatment of secondary aorto-enteric fistulas (SAEFs) with prosthetic excision and extra-anatomic bypass (conventional treatment) in a single centre institution (teaching hospital). MATERIALS AND METHODS: Between January 1990 and March 2002, 30 patients underwent conventional surgical treatment for SAEF. Data concerning these operations were collected in a dedicate database and 30-day mortality, patency and limb salvage rates were evaluated by mean of chi-square test and logistic regression analysis. Clinical and ultrasonographic follow-up was performed; late results were evaluated by mean of Kaplan-Meyer curves. RESULTS: Thirty day mortality rate was 26% (8 patients). Timing and sequence of interventions (simultaneous or staged, prosthetic excision or revascularization before) had no significative influence on perioperative mortality. There were six extranatomic bypass thromboses at 30 days, but no amputation. Mean duration of follow-up was 24 months; estimated 12- and 24-month survival rates were 60 and 50%, respectively. There were better results in terms of long-term survival in patients undergone prosthetic graft excision before. Primary patency rate was 62% and limb salvage rate was 95%, both at 24 months. Two prosthetic graft reinfections occurred during follow-up (9%). Cumulative reinterventions rate during follow-up was 18%. CONCLUSIONS: Conventional surgical treatment of SAEF permitted, in our experience, satisfactory early and long terms results, with fair rates of patency and limb salvage. Surgical timing and sequence do not seem to affect early results.

Aged↗

Relationship between the calibre of carotid arteries and the configuration of the circle of Willis in healthy older persons.

AIM: Recent papers have pointed out that the severity of brain damage that follows carotid occlusion is largely influenced by the state of integrity and functionality of the circle of Willis. In spite of this, duplex scanning investigation of carotid arteries has traditionally been focused on the assessment of the degree of the stenosis, while other features, such as the calibre of carotid arteries and their possible asymmetry, have often been neglected. The aim of the present paper was to verify, in a cohort of older persons, whether, based on the calibre of internal carotid arteries and their possible asymmetry, abnormalities of the circle of Willis can be predicted. Such information could be used to identify high risk patients in whom the status of the circle of Willis should be investigated by MR angiography. METHODS: We studied 118 healthy older persons with both duplex scanning investigation of carotid arteries and MR angiography of the circle of Willis. RESULTS: We found that the finding of abnormal internal carotid artery calibres was always associated with abnormalities of the precommunicating segments either of the anterior or of the posterior cerebral arteries. Abnormalities of communicating arteries did not affect the calibre of internal carotid arteries, but abnormalities of anterior communicating arteries could always be detected by contralateral common carotid artery compression manoeuvres. CONCLUSION: In conclusion our findings show that, in healthy older persons, duplex scanning investigation of carotid arteries may provide useful information about the integrity and functionality of the circle of Willis. Future studies should confirm our findings in patients with atherosclerotic lesions of internal carotid arteries.

Aged↗

Acute leg ischaemia from thrombosed popliteal artery aneurysms: role of preoperative thrombolysis.

OBJECTIVE: to evaluate early and long term results of thrombolysis and surgery in acutely thrombosed popliteal artery aneurysms. SETTING: retrospective study; teaching hospital. MATERIALS: between 1990 and 2000, 109 popliteal artery aneurysms were operated on. In 24 patients acute leg ischaemia due to thrombosis of aneurysm was present. METHODS: ten patients underwent urgent surgical intervention (group 1); and 14 thrombolysis with urokinase, until patency of popliteal and tibial vessels was achieved or for a maximum of 3 days (group 2). Ultrasonographic follow-up was performed at 1, 3, 6 and 12 months and then annually. Early results and follow-up data were analysed by chi-square test and life-table analysis (Kaplan-Meier curve) and late results were compared by mean of log rank test. RESULTS: in group 1 early limb salvage was 70%; in group 2 it was 86% (p=n.s.). When thrombolysis was successful, patency and limb salvage were 100%. There was no local or systemic complications during thrombolysis nor worsening of ischaemia. Follow-up was completed in 91 cases, with a mean duration of 26 months. Forty-eight months primary patency rate was better, even if not statistically significant, in group 2 than in group 1. CONCLUSIONS: in patients with acute leg ischaemia due to thrombosis of popliteal artery aneurysms, preoperative thrombolysis can be considered a safe and effective alternative to urgent surgery.

Acute Disease↗

Carotid endarterectomy with contralateral carotid artery occlusion: is this a higher risk subgroup?

OBJECTIVE: to evaluate early and mid-term term results of carotid endarterectomy (CEA) in patient with and without contralateral carotid occlusion. METHODS: between 1996 and 1999, 1324 CEAs were performed. In 82 patients contralateral carotid artery occlusion was present (group I); 1242 patients had patent contralateral carotid (group II). All patients were operated under general anaesthesia, and selective shunting was based on somatosensory evoked potentials (SEPs). Ultrasonographic follow-up was performed at 1, 6 and 12 months and then once a year. Early results and follow-up data were analysed retrospectively. RESULTS: in group I there was a significantly higher incidence of SEPs reduction and shunt insertion; however, there were no differences in terms of perioperative complications. The cumulative stroke and death rate at 30 days in group 1 and group 2 were 2.4% vs 1.4% (p=n.s.), respectively. At a mean follow-up of 15 months there were no differences between the two groups in terms of cumulative symptom-free survival. CONCLUSIONS: the presence of contralateral carotid occlusion caused an increased use of shunt, but not in early complications rates.

Adult↗

Is the percentage of stenosis of the internal carotid artery a reliable measure of the risk of ischemic stroke? A morphometric study by duplex ultrasound of aortic arch branches in 500 normal adults.

BACKGROUND: The percentage of stenosis has been considered for the last 20 years, and still continues to be, the main criterion of choice between a surgical and a medical treatment of the atherosclerotic lesions of the aortic arch branches, particularly as regards the internal carotid artery. On the other side, it has been demonstrated that the risk of adverse acute cerebrovascular events, besides being related to the characteristics of the plaque, such as softness, subintimal haemorrhage or surface ulcer, is strictly related to the actual residual lumen of the internal carotid artery. The pre-eminent role of the percentage of stenosis in the choice of the treatment, hence, presumes a narrow range of variation of the original calibre of the vessel, yet to be proven. METHODS: Five-hundred normal adults underwent the measurement of the internal calibre of the aortic arch branches by duplex ultrasound in order to find out their actual range of variation. RESULTS: The range of variation of the internal calibre of the aortic arch branches, expressed as the ratio between the maximum and the minimum value found for each vessel, was very wide in all cases (from 180% for the right common carotid artery to 340% for the right vertebral artery). With reference to the internal carotid arteries, the range of variation was 219% for the right internal carotid artery and 241% for the left internal carotid arteries. CONCLUSIONS: Due to the wide range of variation of the original calibre of the aortic arch branches, the percentage of stenosis alone cannot be considered an accurate measure of the severity of the stenosis, and hence a reliable criterion of choice of the treatment.

Adult↗

Collateral circulation in internal carotid artery occlusion. A study by duplex scan and magnetic resonance angiography.

BACKGROUND: Clinical effects of internal carotid artery (ICA) occlusion may range from the absolute absence of symptoms to lethal hemispheric stroke. In this paper symptoms of patients with ICA occlusion have been related to the development of collateral circulation, different types of developed collateral circulation have been assessed, and the degree of sensitivity and specificity of duplex scan has been appraised. METHODS: Forty-eight patients with ICA occlusion or subocclusion, 24 males and 24 females, aged between 50 and 83 years (67.7+/-7.15), underwent duplex scan and magnetic resonance (MR) angiography. Nineteen patients were completely asymptomatic, 20 patients showed permanent neurological symptoms and 9 patients had shown transient symptoms. RESULTS: Twelve patients (25%) did not show any collateral circulation, 29 patients (60%) showed collateral circulation through homolateral external carotid artery branches and 7 patients (15%) showed collateral circulation through other circuits. Of the 20 patients with permanent symptoms only 8 showed collateral circulation. On the contrary, all the 19 asymptomatic patients and the 9 patients with transient symptoms showed collateral circulation. Eventually, duplex scan showed 78% sensitivity, 100%, specificity and 83% diagnostic accuracy. CONCLUSIONS: Our data show: 1) a clear-cut prevalence of collateral circulation through homolateral external carotid artery branches with respect to other possible collateral circulation; 2) an inverse relationship between the development of collateral circulation and the appearance of permanent symptoms; 3) a good diagnostic accuracy of duplex scan in revealing collateral circulation in the case of ICA occlusion.

Aged↗

The circle of Willis in healthy older persons.

BACKGROUND: The current indication for carotid surgery is based upon the percentage of stenosis of the internal carotid artery. This approach shows many limitations, one of which is to presume the anatomical completeness of the circle of Willis in all patients who are evaluated. On the contrary, there is increasing evidence of a great natural variability in the configuration of the circle of Willis. METHODS: The aim of the present paper was to investigate, by magnetic resonance angiography, the variability of the circle of Willis in a cohort of 118 healthy older persons. RESULTS: The circle of Willis showed an entirely complete configuration in 47% of the subjects, a complete configuration of its anterior part in 90% of the subjects, and a complete configuration of its posterior part in 48.5% of the subjects. CONCLUSIONS: These findings confirm the great variability of the circle of Willis even in healthy older persons and suggest that, in indicating carotid surgery, the configuration of the circle of Willis should also be taken into account.

Age Factors↗

Early and long-term results of surgical treatment of splenic artery aneurysms.

BACKGROUND: This retrospective study was conducted to describe the presentation, surgical treatment, and follow-up of patients with splenic artery aneurysms. METHODS: From 1982 to 2000, 1,952 patients with abdominal aneurysms were referred to our department; 15 had splenic artery aneurysms. None had ruptured. All were operated on. RESULTS: Fourteen complete and 1 partial aneurysmectomies were carried out. Arterial continuity was restored in 10, by end-to-end anastomosis, and 4 had splenectomies. In 1 patient the spleen was preserved without arterial reconstruction. There were no deaths. Morbidity was restricted to 1 patient with a limited, asymptomatic splenic infarction. Eleven patients were followed up for a mean 19.7 months. No deaths or major complications were recorded. Reconstructed splenic arteries were patent in all cases without atrophy or new cases of splenic infarction. CONCLUSIONS: Elective surgery for splenic artery aneurysms is safe. Arterial reconstruction allows good early and long-term results. In some cases splenectomy may be unavoidable.

Aneurysm↗

Changes in thymic function in HIV-positive patients treated with highly active antiretroviral therapy and interleukin-2.

Despite its potent antiviral activity, highly active antiretroviral therapy (HAART) only exerts a marginal effect on CD4+ T-cell regeneration in HIV-infected subjects. Combination therapies aimed at boosting T-cell activity and maturation may provide an important contribution to the restoration of immune function. Here, we report the results obtained by a two-year follow-up of a cohort of HIV-infected patients treated with a combination of HAART and interleukin-2 (IL-2). In these patients, in addition to a series of quantitative virological and immunological parameters, we investigated T-cell regeneration by an immunophenotypic assay monitoring CD4+ naïve T cells, and by analysis of thymic function, through the quantification of the excision DNA products of T-cell receptor rearrangement (TRECs) in lymphocytes. Compared with HAART alone, we found that the IL-2 combination therapy was equally effective in reducing the levels of viremia and marginally more effective in decreasing proviral DNA load. Strikingly, the IL-2 combination produced a marked increase in the number of CD4+ T cells bearing a naïve phenotype (CD45RA+, CD62L+), which was apparent for over 96 weeks after therapy. To assess whether these cells were the product of improved T-cell generation, we exploited a competitive quantitative molecular assay to quantify TRECs in peripheral blood lymphocytes. Surprisingly, we found that the levels of these molecules were unchanged in these patients. These findings indicate that improved thymic function does not account for the early rise of CD4 naïve cells in HIV-positive patients treated with IL-2, and suggest that alternative mechanisms of T-cell maturation and differentiation are responsible for this event.

Adult↗