Search PubMed⌕ Search

Biomedical subjects

G Villa

Publications and source records attributed to G Villa.

At least 19 recordsLinked to original sources
PubMed2006

ACTN3 genotype in professional endurance cyclists.

The Z-disk protein alpha-actinin-3 is only expressed in type II muscle fibres, which are responsible for generating forceful contractions at high velocity. Despite the evolutionary conservation of alpha-actinin-3, approximately one in every five Caucasians of European ancestry is totally deficient in this protein, due to homozygosity for a R577X polymorphism in the ACTN3 gene. This, together with the results of recent research on elite athletes, suggests that the "null" XX polymorphism might confer some advantage to endurance performance events. To test this hypothesis, we studied the frequency distribution of R577X genotypes in a group of 50 top-level male professional cyclists (26.9 +/- 0.4 yrs [mean +/- SEM]; VO2max: 73.5 +/- 0.8 ml x kg (-1) x min (-1)). Their results were compared with those of a group of 52 Olympic-class male endurance runners (26.8 +/- 0.6 yrs; VO2max: 73.3 +/- 0.8 ml x kg (-1) x min (-1)) and 123 healthy, sedentary male controls. All subjects were Caucasian, and of European ancestry. No significant differences (p > 0.05) were found between groups: RR: 28.5 %; RX: 53.6 % and XX: 17.9 % in controls; RR: 28.0 %; RX: 46.0 % and XX: 26.0 % in cyclists; and RR: 25.0 %; RX: 57.7 %; XX: 17.3 % in runners). No differences were found in indices of endurance performance (VO2peak or ventilatory thresholds) between athlete carriers of each R577X genotype. In summary, although the alpha-actinin-3 deficient XX genotype may be detrimental for sprint performance in humans, the R577X polymorphism of the ACTN3 gene does not appear to confer an advantage on the ability of male athletes to sustain extreme endurance performance.

Actinin↗
PubMed2006

Lymphatic microsurgery for the treatment of lymphedema.

One of the main problems of microsurgery for lymphedema consists of the discrepancy between the excellent technical possibilities and the subsequently insufficient reduction of the lymphoedematous tissue fibrosis and sclerosis. Appropriate treatment based on pathologic study and surgical outcome have not been adequately documented. Over the past 25 years, more than 1000 patients with peripheral lymphedema have been treated with microsurgical techniques. Derivative lymphatic micro-vascular procedures has today its most exemplary application in multiple lymphatic-venous anastomoses (LVA). For those cases where a venous disease is associated to more or less latent or manifest lymphostatic pathology of such severity to contraindicate a lymphatic-venous shunt, reconstructive lymphatic microsurgery techniques have been developed (autologous venous grafts or lymphatic-venous-Iymphatic-plasty - LVLA). Objective assessment was undertaken by water volumetry and lymphoscintigraphy. Subjective improvement was noted in 87% of patients. Objectively, volume changes showed a significant improvement in 83%, with an average reduction of 67% of the excess volume. Of those patients followed-up, 85% have been able to discontinue the use of conservative measures, with an average follow-up of more than 7 years and average reduction in excess volume of 69%. There was a 87% reduction in the incidence of cellulitis after microsurgery. Microsurgical lymphatic-venous anastomoses have a place in the treatment of peripheral lymphedema and should be the therapy of choice in patients who are not sufficiently responsive to nonsurgical treatment. Improved results can be expected with operations performed earlier at the very first stages of lymphedema.

Adolescent↗
PubMed2006

Is there a role for microsurgery in the prevention of arm lymphedema secondary to breast cancer treatment?

The secondary lymphedema of the upper limb (post-mastectomy lymphedema) has an incidence, in patients who underwent axillary lymphadenectomy for breast cancer, between 5 to 25%, up to 40% after radiotherapic treatment. We studied 50 patients treated for breast cancer. The patients were divided in two groups of 25 each, comparable for age, sex, pathology and treatment and followed up to 5 years after operation for breast. One group of 25 patients was controlled only clinically (physical examination, water volumetry) at 1-3-6 months and 1-3-5 years from breast cancer treatment. The other group of 25 patients was followed also by lymphatic scintigraphy performed pre-operatively and after 1-3-6 months and 1-3-5 years from operation. In the first group, followed only clinically, lymphedema appeared in 9 patients after a period variable from 1 week to 2 years, with highest incidence between 3 and 6 months. In the second group of 25 patients, the preventive therapeutic protocol allowed to have a clinically evident arm lymphedema only in 2 patients. The comparison of the two groups of 25 patients proved a statistically significant difference in the appearance of arm secondary lymphedema (p = 0.01, using Fisher's exact test). The diagnostic and therapeutic preventive procedures allow to reduce the incidence rate of lymphedema significantly, in comparison with patients who did not undergo this protocol of prevention.

Adenocarcinoma↗
PubMed2005

Interaction between metabolic syndrome and PON1 polymorphisms as a determinant of the risk of coronary artery disease.

The enzyme serum paraoxonase plays an important role in antioxidant defences and prevention of atherosclerosis. Metabolic syndrome (MS) is a clinical condition associated with increased oxidant stress and cardiovascular mortality. Two common polymorphisms of serum paraoxonase, PON1 Leu(55)Met and Gln(192)Arg, have been postulated to modulate the cardiovascular risk. We studied 915 subjects with angiographic documentation: 642 subjects with coronary atherosclerosis and 273 with normal coronary arteries. Two hundred and twenty-four subjects met the diagnostic criteria of MS. We found a significant interaction between MS and both the PON1 polymorphisms in determining the risk of coronary artery disease (P<0.05 by likelihood-ratio test). The 55Leu and the 192Arg alleles, associated with reduced protection against lipid peroxidation, were associated with coronary artery disease only in the MS subgroup. Subjects with MS and both 55Leu and 192Arg alleles had significantly increased risk (OR=9.38 with 95% CI=3.02-29.13 after adjustment by multiple logistic regression) as compared to subjects without MS and with 55Met/Met-192Gln/Gln genotype. No increased risk was found for subjects with MS and the 55Met/Met-192Gln/Gln genotype. This study highlights a potential example of genetic (paraoxonase polymorphisms)-clinical (MS) interaction influencing cardiovascular risk.

Aged↗
PubMed2005

The prognostic role of the sentinel lymph node in clinically node-negative patients with cutaneous melanoma: experience of the Genoa group.

AIM: To define the benefit of intraoperative frozen section examination of the sentinel lymph node (sN), and to assess its prognostic value in clinically node-negative melanoma patients. MATERIALS AND METHODS: Between July 1993 and December 2001, 214 patients with Stage I-II cutaneous melanoma underwent sN biopsy; complete follow-up data are available in 169 of 175 patients who underwent preoperative lymphoscintigraphy, lymphatic mapping with Patent Blue-V and radio-guided surgery (RGS). RESULTS: In an initial subset, the sN was identified in 35 out of 39 patients; in the principal group of 169 patients, the sN was detected in all patients. The benefit of frozen section examination, that is the proportion of all patients having intraoperative histologic examination who tested positive, was 17.2% (29/169); notably, in patients with pT(1-2) vs pT(3-4) melanoma the corresponding values were 2.3 and 33.3%, respectively, (P=0.000). Cox regression analysis for overall survival indicated that sN-positive patients had a two-fold increased risk of death; the most significant predictors of relapse-free survival were sN status (P=0.004), age (P=0.015), and T stage grouping (P=0.033). CONCLUSIONS: The sN is a reliable predictor of regional lymph node status in patients with cutaneous melanoma. Frozen section examination can be useful in avoiding a 'two-stage' operative procedure in patients with tumour-positive sN, but its greatest benefit seems to be restricted to patients with pT(3)-pT(4) primary melanoma.

Adolescent↗
PubMed2005

Pre-exercise antioxidant enzyme activities determine the antioxidant enzyme erythrocyte response to exercise.

Free radical production increases during exercise and oxidative damage occurs in several tissues. We examined the effects of three different exercise tests on the pattern of change of erythrocyte enzyme antioxidant activities. The tests were a short maximal exercise test, a submaximal prolonged exercise test and a cycling stage during competition. The participants were amateur and professional cyclists with different training statuses and different basal erythrocyte antioxidant enzyme activities. The maximal test produced no changes in the erythrocyte antioxidant enzyme activities of amateur sportsmen. The submaximal test, performed at 80% of maximal oxygen uptake, decreased erythrocyte catalase (12%), glutathione peroxidase determined with H2O2 (14%) and glutathione reductase (16%); superoxide dismutase activity increased by about 25%. The cycling stage performed by professional cyclists increased erythrocyte catalase (29%) and glutathione reductase (10%) activities. The in vivo changes in glutathione reductase activity were confirmed by in vitro measurements: hydrogen peroxide decreased and the presence of catalase increased the activity of this enzyme. In conclusion, we suggest that the different erythrocyte antioxidant enzyme responses to diverse exercise tests can be explained by the effects of hydrogen peroxide and the superoxide anion on the antioxidant enzyme activities in erythrocytes.

Adult↗
PubMed2005

Diagnostic protocol for lymphoscintigraphy in newborns.

The purpose of this methods paper is to offer pediatricians and nuclear medicine physicians a diagnostic protocol for performing lymphoscintigraphy in newborns that may be useful for enhancing diagnosis and management of newborns with congenital lymphatic abnormalities. Indications for lymphoscintigraphy, choice of tracer, optimal dose, routes of administration, methods of data acquisition, timing, and interpretation of results for newborns are presented and discussed.

Diagnosis, Differential↗
PubMed2005

Staging and therapy monitoring of multiple myeloma by 99mTc-sestamibi scintigraphy: a five year single center experience.

The aim of the present study was the evaluation of the diagnostic value of 99mTc-sestamibi (MIBI) in the detection of bone marrow involvement in patients suffering from multiple myeloma (MM) and its possible role in the follow-up. Between 1998 and 2003, 68 patients with MM and 42 pts with monoclonal gammopathy of undetermined significance (MGUS) were consecutively enrolled in this study. 51/68 MM patients had active disease (AD), 11/62 were in complete remission (CR) and 6/68 in partial remission (PR) after chemotherapy. 18 patients with MM repeated a 99mTc-MIBI scintigraphic study at least 2 months after high-dose chemotherapy. All the scans were scored semi quantitatively according to extension and intensity of tracer uptake. All MGUS pts had a negative 99mTc-MIBI. As far as the MM pts are concerned, 54/68 (49%) pts (48 with AD, 5 with PR and 1 with CR) had a positive 99mTc-MIBI scan, while the 99mTc-MIBI scan was negative in 14/68 pts (10 with CR, 1 with PR and 3 with AD). The overall sensitivity of the 99mTc-MIBI scintigraphy was 92%; specificity was 96%. In the follow up of the pts treated with chemotherapy 99mTc-MIBI closely paralleled the activity of myeloma bone disease. In conclusion, these results indicate that 99mTc-MIBI scintigraphy closely reflects myeloma disease activity in the bone marrow, and that a negative 99mTc-MIBI scan in patients with suspected MM clearly, though not absolutely, indicates absence of disease or clinical remission. The results of this study suggest a clear diagnostic value of 99mTc-MIBI scintigraphy in patients with MM and its potential role during the follow-up for the monitoring of MM bone disease.

Adult↗
PubMed2005

Pulmonary lymphangiectasia.

Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and is characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation. Both frequency and etiology are unknown. PL presents at birth with severe respiratory distress, tachypnea, and cyanosis, with a very high mortality rate at or within a few hours of birth. At birth, mechanical ventilation and pleural drainage are nearly always necessary to obtain a favorable outcome of respiratory distress. Home supplemental oxygen therapy and symptomatic treatment of recurrent cough and wheeze are often necessary during childhood, sometimes associated to prolonged pleural drainage. Recent advances in intensive neonatal care have changed the previously nearly fatal outcome of PL at birth. Patients affected by PL who survive infancy present medical problems which are characteristic of chronic lung disease.

Diagnosis, Differential↗
PubMed2005

Risk management: medical malpractice and Emergency Department.

Because of the limited number of comprehensive paediatric centres, providing the entire continuum of paediatric care, including subspecialty care, and generally serving as regional referral centres for tertiary paediatrics, paediatric emergency care in Italy is often provided in adult facilities within primarily adult hospital institutions. Consequently, most paediatricians working in hospitals with a separate paediatric ward or department provide Emergency Department (ED) on-call coverage with serious liability concerns: such concerns are due to the fact that successful care of infants and children in an emergency situation requires appropriately sized equipment, well trained staff, appropriate and specialised triage and destination guidelines but, unfortunately, not all Italian facilities fulfil all these criteria. Risk management training of the entire ED staff may reduce the institution's involvement in malpractice litigation. Another useful tool within a paediatric ED is an Observation Unit (OU) for well-defined illnesses (such as asthma, croup, bronchiolitis, gastroenteritis, abdominal pain, mild dehydration, overdoses or poisoning, seizures), which can assure better patient's care, a decrease in missed diagnosis and acuity and decreased lenght of stay, and, consequently, a better risk management, decreased malpractice liability and cost effectiveness. Furthermore, in our paper we aimed to highlight the importance of aspects with a potential risk exposure in our profession, such as informed consent, exculpatory release forms, incident reports and complete ED record documentation of paediatric patients. In addition to that, the quality of care provided at ED in Italy has been assessed by analysing ED-related paediatric malpractice claims in the last 10 years. Finally, the importance of a joint commission within the Italian Paediatrics Society is underlined in order to discuss practice guidelines for paediatricians involved in emergency care.

Documentation↗
PubMed2004

Magnetic resonance imaging combined with artificial erection for local staging of penile cancer.

OBJECTIVES: To assess magnetic resonance imaging (MRI) combined with artificial erection for local staging of penile cancer. METHODS: We compared local clinical, MRI plus artificial erection, and pathologic staging in 9 cases of penile cancer. Erection was obtained by injecting 10 microg prostaglandin E1 into the corpora cavernosa. T1-weighted and T2-weighted MRI with and without contrast was obtained using a phased array coil. Local treatment was based on tumor location and extent, as defined by the clinical and MRI findings. RESULTS: The histologic diagnosis was squamous cell carcinoma in 8 patients and sarcoma in 1. The MRI and pathologic staging coincided in 8 of 9 patients. MRI, clinical, and pathologic staging coincided in 5 patients: 4 had Stage T2 and 1 had Stage T1 disease. In 2 patients, the MRI and pathologic stage was T2, but the clinical stage differed. Another patient had Stage T2 clinically but T3 by MRI and pathologic staging. In the last patient, none of the stages coincided (clinical Stage T1, MRI Stage T0, and pathologic Stage Tis). The only complication during the procedure was that 1 patient developed priapism after prostaglandin injection, which was relieved by evacuation of the corpora cavernosa. CONCLUSIONS: To our knowledge, this is the first study to use artificial erection with MRI to stage local penile cancer. The method appears promising for local staging of penile cancer, but additional studies are necessary to confirm its utility.

Aged↗
PubMed2004

Multimodal imaging in the congenital pulmonary lymphangiectasia-congenital chylothorax-hydrops fetalis continuum.

We report on three infants with congenital chylothorax (CC) and congenital pulmonary lymphangiectasia (CPL). CPL appears to be a characteristic pathological finding in CC. Through the use of lymphoscintigraphy and computed tomography, this study suggests that CC and CPL are strongly correlated entities and that the dysplasia of the lymphatic system results in a pulmonary lymphatic obstruction sequence. The initial microscopic dilatation of the lymph channels may lead to progressive weeping of lymphatics and, consequently, to pleural effusion. Non-Immune Hydrops Fetalis (NIHF) may be the final consequence of impaired systemic venous return and may help to explain pleural-pulmonary involvement in this generalized lymph-vessel malformation syndrome.

Abnormalities, Multiple↗
PubMed2004

Combined treatment of glioblastoma patients with locoregional pre-targeted 90Y-biotin radioimmunotherapy and temozolomide.

AIM: In a previous phase I-II study, the safety profile and anti-tumor efficacy of pre-targeting locoregional radioimmunotherapy (LR-RIT), based on the ''3 step'' method, was assessed in 24 high-grade glioma patients. The encouraging results in terms of low toxicity and objective response rate (25%) prompted us to continue our study. METHODS: An analysis of 73 patients with hystologically confirmed glioblastoma multiforme (GBM), treated with the ''3 step'' (90)Y-biotin based LR-RIT, is herein reported. All patients had a catheter implanted at 2(nd) surgery and underwent at least 2 cycles of LR-RIT (range 2-7) with 2 months interval. Thirty-five out of 73 patients were also treated with Temozolomide (TMZ). Two cycles of TMZ (200 mg/m(2)/day, for 5/28 days) were administered in between each course of LR-RIT. Overall survival (OS) and progression free survival (PFS) were retrospectively calculated. RESULTS: Stabilization of disease was achieved in 75% of patients, while 25% progressed. In the 38 patients treated with LR-RIT alone, median OS and PFS were respectively 17.5 months (95%CI=[17-20]) and 5 months (95%CI=[4-8]), while in the 35 treated with the combined treatment (LR-RIT+TMZ) respective values were 25 months (95%CI=[23-30]) and 10 months (95%CI=[9-18] (p<0.01). The addition of TMZ to LR-RIT did not increase neurological toxicity, and no major hematological toxicity was observed. CONCLUSION: These results confirm the safety and the efficacy of (90)Y LR-RIT in recurrent GBM patients; the addition of TMZ significantly improved the overall outcomes; a further controlled prospective, randomized study is fully justified.

Antineoplastic Agents, Alkylating↗
PubMed2003

Disappearance of cerebral arteriovenous malformations after partial endovascular embolisation: four cases with follow-up.

We report four patients with late angiographic follow-up of spontaneous occlusion of residual cerebral arteriovenous malformation after partial embolisation. Discussion is focused on the possible mechanisms leading to obliteration according to the latest concepts on angioarchitectural remodelling, malformation development and evolution with a brief review of the literature.

Adult↗
PubMed2003

Peptide receptor radiotherapy: a new option for the management of aggressive fibromatosis on behalf of the Italian Sarcoma Group.

The management of aggressive fibromatosis (AF) is problematic, and few options are available to patients unsuitable for surgery and resistant to external-beam radiation therapy (EBRT). We report on two patients with fast-growing recurrences of AF resistant to EBRT who obtained protracted clinical benefits with (90)Y-DOTATOC. (90)Y-DOTATOC should be further investigated in this setting.

Adult↗
PubMed2003

[Modifications of the leukocytes in professional cyclists throughout the competition].

In this work we plan to analyze and establish the leukocyte variations due to the effort of the competition, throughout 4 short-term turns (5 days and an average of 750 km each one), in 16 professional cyclists (24.8 2.3 year-old, 71.0 4.5 kg and 179.3 5.0 cm). The hematological parameters analyzed were leukocytes (WBC), neurtrophils (NEUT), lymphocytes (LYM), monocytes (MON), eosinophils (EOS) and basophils (BAS), and the results are presented as the percentage on the total number of leukocytes. The serum level of cortisol was also measured along study time (before and after each one of the 4 turns). The results show that the total number of leukocytes increase significantly in the turns, both in basal conditions (B) and after finishing the turn (F). The NEUT show an ongoing increase in their basal values from the first to the fourth round, but its values at the conclusion of this are significantly lower with respect to the situation of reference of the beginning of the cyclist turn. The LYM in rest upon beginning the turns are kept in similar values during the study period, increasing significantly after the 5 days of competition of each turn. The cortisol, as they are happening the turns, they decline its rates both in rest and after the competition (5 days turns). In conclusion the physical exercise throughout several cyclists turns give rise an increases in the leukocytes that is associated to a progressive decline of the cortisol levels probably because of the conditioning that the cyclist shows throughout the competition.

Adult↗