The Mediterranean diet in Italy: An update.
Explore the source record for details and available documents.
Aged↗
Biomedical subjects
M Gentile
Publications and source records attributed to M Gentile.
Stability in a denitrifying fluidized bed reactor.
This study evaluates changes in the microbial community structure and function of a pilot-scale denitrifying fluidized bed reactor during periods of constant operating conditions and periods of perturbation. The perturbations consisted of a shutdown period without feed, two disturbances in which biofilms were mechanically sheared from carrier particles, and a twofold step increase in feed nitrate concentration. In the absence of perturbations, nitrate removal was stable and consistently greater than 99%. The structure and dynamics of the microbial community were studied using cloning and sequencing techniques and terminal restriction fragment length polymorphism (T-RFLP) of the SSU rRNA gene. Under unperturbed operating conditions, stable function was accompanied by high constancy and low variability of community structure with the majority of terminal restriction fragments (T-RFs) appearing throughout operation at consistent relative abundances. Several of the consistently present T-RFs correlated with clone sequences closely related to Acidovorax (98% similarity), Dechloromonas (99% similarity), and Zoogloea (98% similarity), genera recently identified by molecular analyses of similar systems. Significant changes in community structure and function were not observed after the shutdown period. In contrast, following the increase in loading rate and the mechanical disturbances, new T-RFs appeared. After both mechanical disturbances, function and community structure recovered. However, function was much more resilient than community structure. The similarity of response to the mechanical disturbances despite differences in community structure and operating conditions suggests that flexible community structure and potentially the activity of minor members under nonperturbation conditions promotes system recovery.
Biodegradation, Environmental↗
Impaired endothelium-dependent vascular reactivity in patients with familial combined hyperlipidaemia.
BACKGROUND: Familial combined hyperlipidaemia (FCHL) is associated with a markedly increased risk of premature coronary artery disease. This study was designed to evaluate whether preclinical atherosclerotic functional abnormalities are detectable in the arteries of patients with FCHL. METHODS: 60 subjects were recruited for the study: 30 probands of families with FCHL (mean (standard deviation (SD)) age 48 (10) years, 77% men), defined by fasting total plasma cholesterol or triglyceride concentration >250 mg/dl (>6.5 mmol/l cholesterol, >2.8 mmol/l triglyceride) and by the occurrence of multiple lipoprotein phenotypes within a family, and 30 age-matched and sex-matched healthy controls. All subjects underwent high-resolution B-mode ultrasound examination and the brachial arterial reactivity, a marker of endothelial function, was measured by a semiautomated computerised program. Lipid profile, resting blood pressure, body mass index (BMI), smoking status, insulin and homocysteine levels were also determined. RESULTS: Compared with controls, patients with FCHL had significantly higher BMI, diastolic blood pressure and insulin levels. No difference was observed in baseline brachial diameter between the two groups (mean (SD) 3.45 (0.51) mm for FCHL v 3.60 (0.63) mm for controls; p = 0.17). In response to flow increase, the arteries of the controls dilated (mean (SD) 8.9% (4.9%), range 2.3-20.8%), whereas in the patients with FCHL, brachial arterial reactivity was significantly impaired (5.5% (2.5%), range 0-10.1%; p = 0.002). In multivariate linear regression analysis, apolipoprotein B and BMI were independent determinants of brachial artery response to reactive hyperaemia. CONCLUSIONS: The findings of our study suggest that vascular reactivity is impaired in the arteries of patients with FCHL.
Adult↗
Comparative genomic hybridisation in malignant deciduoid mesothelioma.
BACKGROUND: Malignant deciduoid mesothelioma is a rare variant of epithelioid mesothelioma. This tumour generally has poor prognosis, and can be asbestos related. AIM: To identify peculiar genetic changes responsible for critical phases in pathogenesis of malignant deciduoid mesothelioma and their prognostic relevance. METHODS: Comparative genomic hybridisation was carried out in six cases of malignant pleural deciduoid mesothelioma, four sporadic and two familial. All cases were found to be asbestos related. Four patients died during follow-up and the mean survival was 29.5 (SD 14.2, range 12-43) months. RESULTS: Genetic abnormalities were found in all the tumour tissues, the most frequent being chromosomal gains at 1p, 12q, 17, 8q, 19 and 20 and losses at 13q, 6q and 9p. Survival was found to be longer in those patients who presented a smaller number of losses (< or =2) in the tumorous chromosomes. CONCLUSIONS: Although numerous genetic changes are presented by deciduoid mesotheliomas, certain chromosomal regions are preferentially affected. The clinical outcome for this mesothelioma subtype is predicted by the number of losses.
Adult↗
Abnormal oral mucosal light reflectance: a new clinical marker of high risk for colorectal cancer.
BACKGROUND: A familial predisposition to colorectal cancer (CRC) has been clearly established, consisting of familial clustering in 15-20% and clear hereditary aetiology in 5-10% of overall CRC cases. Early identification of families and individuals at high risk is essential as intensive surveillance has been demonstrated to reduce cancer incidence and overall mortality. In the present study, the value of oral mucosal light reflectance in identifying hereditary non-polyposis colorectal cancer (HNPCC) carriers was investigated. METHODS: Twenty members of six different genetically unrelated HNPCC kindred and 30 genetically unrelated age and sex matched healthy controls were examined. Lower gingival and vestibular oral mucosal reflectance was measured using an imaging spectrophotometer. RESULTS: HNPCC carriers showed significantly lower values in the 590-700 nm wavelength range (p<or=0.0004). A reflectance cut off value <or=47.9% at the 700 nm wavelength discriminated between HNPCC carriers and controls, with 100% sensitivity and 100% specificity. CONCLUSIONS: These findings may provide an additional phenotypic sign in HNPCC carriers, which could be used in first level CRC population screening programmes.
Adaptor Proteins, Signal Transducing↗
Idiopathic thrombocytopenic purpura (ITP) in the elderly: clinical course in 178 patients.
Idiopathic thrombocytopenic purpura (ITP) is often diagnosed in the elderly (age >or=65 yr), where it generally presents as a chronic disease. The objective of the present study was to describe the natural history of ITP in the elderly and to evaluate the risk of bleeding and the possible occurrence of other pathologies. We retrospectively evaluated 178 ITP patients (82 men, 96 women; mean age: 72 yr) diagnosed between 1981 and 1998. Therapy was started at diagnosis or during follow-up, depending on the platelet count and/or bleeding events. Sixty-six out of one hundred and seventy-eight patients (37%) initiated therapy at diagnosis; whereas in 11 of the 112 untreated patients (9.8%) therapy was necessary during the follow-up. Low-dose of prednisone was the first-line treatment in all patients (mean daily dose of 0.43 mg/kg). Forty-nine (63.6%) of the seventy-seven treated patients showed a response, 14 of these (28.6%) suffered a relapse. Another pathology occurred in 19 of the 178 patients (10.7%). We conclude that low-dose prednisone is an appropriate initial treatment for elderly persons. We also stress that an adequate follow-up is advisable, given that isolated thrombocytopenia could in some cases be the first sign of another underlying pathology.
Aged↗
Diagnosis, characterization and outcome of congenitally corrected transposition of the great arteries in the fetus: a multicenter series of 30 cases.
OBJECTIVE: To describe the anatomy, associated anomalies and outcome of 30 cases of congenitally corrected transposition of the great arteries (ccTGA) detected prenatally. METHODS: This was a retrospective observational study of the 30 cases of ccTGA confirmed at autopsy or postnatal echocardiography seen at one of three referral centers from 1994 to 2003. The following data were considered: gestational age at diagnosis, cardiac anatomy, associated cardiac and extracardiac anomalies and fetoneonatal outcome. All fetuses underwent fetal echocardiography and a detailed anomaly scan, with follow-up scans at 3-4-week intervals until delivery. The diagnosis was confirmed at autopsy or after delivery. Follow-up data were retrieved from the clinical files of the patients. RESULTS: The mean gestational age at diagnosis was 25.5 weeks. Intracardiac defects associated with the ccTGA included a ventricular septal defect in 21 cases, pulmonary outflow obstruction in 12 cases, an abnormal tricuspid valve in 10 cases, ventricular hypoplasia in five cases and dextro/mesocardia in five cases. The karyotype was normal in all 24 newborns, and unknown in the cases which resulted in termination of pregnancy (n = 5) or intrauterine death (n = 1). There were associated extracardiac anomalies in four cases only. Three of the four cases of atrioventricular block (AV block) developed in the third trimester, while the fourth appeared after birth. There were nine deaths (five terminations, two perinatal deaths and two infant deaths). The remaining 21 (70%) newborns were alive at a median follow-up time of 32 months, 11 of them after various surgical procedures. CONCLUSIONS: Our data suggest that in fetuses with ccTGA the risk of chromosomal and extracardiac anomalies is low, in accordance with postnatal data. The spectrum of associated cardiac lesions is consistent with that reported in the pediatric literature. These data may be of use during prenatal counseling since no figures regarding survival and/or outcome of ccTGA in the fetus have been reported so far.
Female↗
Characteristics, associations and outcome of partial agenesis of the corpus callosum in the fetus.
OBJECTIVES: To report, in a population of fetuses diagnosed with partial agenesis of the corpus callosum (PACC), the sonographic characterization, incidence of cerebral, extracerebral and chromosomal anomalies, and outcome. In addition, in some of our cases a comparison was made between findings on ultrasound and fetal magnetic resonance imaging (MRI). METHODS: This was a retrospective study of all cases of PACC seen at two referral centers for prenatal diagnosis of congenital anomalies over a 10-year period. The following variables were assessed: indication for referral, additional cerebral and extracerebral malformations, chromosomal abnormalities, and pregnancy and fetal/neonatal outcome. RESULTS: Among 54 cases of fetal agenesis of the corpus callosum detected in the referral centers during the observation period, PACC was diagnosed at prenatal sonography in 20 cases and confirmed at pre/postnatal MRI and necropsy examinations in 19 cases (35%). These 19 constituted the study group. The diagnosis was made in the sagittal planes and in 12 cases it was made prior to 24 weeks. In most cases the indication for referral was the presence of indirect signs of callosal anomalies, such as colpocephaly. In 10 cases PACC occurred in association with other anomalies and in nine it was isolated. MRI was particularly useful for demonstrating some additional cerebral anomalies such as late sulcation, migrational pathological conditions and heterotopia. Regarding pregnancy outcome, of those diagnosed before 24 weeks which had associated anomalies, all except two were terminated. Of the nine cases with isolated PACC, all were liveborn. Follow-up was available in eight, and two of these (25%) showed evidence of significant developmental delay. In our series the outcome of isolated PACC was not better than that of complete agenesis of the corpus callosum reported in other series. CONCLUSIONS: PACC can be diagnosed reliably and characterized in prenatal life. The sonographic sign present in most cases is colpocephaly. Prenatal MRI can be performed to confirm the diagnosis. It is particularly useful to demonstrate some additional cerebral anomalies such as late sulcation, migrational pathological conditions and heterotopia. The relatively poor survival rate is due to the high rate of terminations and associated major anomalies.
Abnormalities, Multiple↗
Novel application of 4D sonography with B-flow imaging and spatio-temporal image correlation (STIC) in the assessment of the anatomy of pulmonary arteries in fetuses with pulmonary atresia and ventricular septal defect.
OBJECTIVES: To assess the reliability of two-dimensional gray-scale (2D) and color Doppler echocardiography in the study of the size and anatomy of the central pulmonary arteries and of the sources of pulmonary blood flow in a case series of fetuses with pulmonary atresia and ventricular septal defect (PA-VSD), and to evaluate whether the use of 4D ultrasound with B-flow imaging and spatio-temporal image correlation (STIC) can improve prenatal diagnostic accuracy. METHODS: The study population comprised a group of seven PA-VSD fetuses that had been examined by 2D and color Doppler echocardiography exclusively, and a group of five additional cases identified initially by conventional echocardiography and examined further by 4D ultrasound, for all of which a thorough postnatal or autopsy study of the size and anatomy of the pulmonary arteries and blood supply was available. RESULTS: 2D and color Doppler echocardiography failed to assess the anatomy of the central pulmonary arteries and the source of the pulmonary blood supply in 33% and 25% of the 12 cases, respectively. 4D ultrasound with B-flow imaging and STIC assessed successfully the anatomy of the pulmonary arteries and the source of pulmonary blood supply in all five fetuses examined. CONCLUSIONS: The prognosis of PA-VSD is influenced by the anatomy of the pulmonary arteries and the sources of the pulmonary blood supply, and by coexisting extracardiac and genetic anomalies. Our findings, although limited to a small sample size, suggest that 4D echocardiography with B-flow imaging and STIC, unlike 2D ultrasound, can provide thorough visualization of very small vessels and of the arterial blood supply to the lungs of fetuses with PA-VSD. 4D ultrasound may be used in the future to improve and help to detail the diagnosis of other fetal cardiac defects.
Adult↗
Post-malaria neurological syndrome: clinical and laboratory findings in one patient.
Post-malaria neurological syndrome (PMNS) is a rare complication of malaria. It follows recovery from an episode of Plasmodium falciparum malaria and is characterised by symptoms and signs of encephalopathy. Patients usually improve without any specific treatment. The pathogenesis is unknown, but it is probably immunologically mediated. The objective of this case study is to describe the first Italian patient with PMNS. A 60-year-old Italian man developed acute P. falciparum malaria after a stay in French Guinea. Twenty days after recovering from malaria, he became confused, developed generalised weakness, limb tremors, shivering and dizziness. These symptoms continued for three days, then resolved spontaneously. Neuroimaging was normal. Cerebrospinal fluid analysis revealed breakdown of the blood/brain barrier, without oligoclonal bands and normal IgG index. Our patient presented a mild diffuse encephalopathy suggestive of a generic activation of the immune system without any specific reaction against antigens within the CNS.
Animals↗
The role of high-dose therapy and autologous stem cell transplantation in patients with primary refractory Hodgkin's lymphoma: a report from the Gruppo Italiano per lo Studio dei Linfomi (GISL).
GISL recently conducted an exhaustive survey of 1078 patients with Hodgkin's Lymphoma (HL) enrolled between 1988 and 2002 in different prospective trials. Treatment failure was observed in 82 out of 1078 patients; of these 82 patients with refractory HL, complete information was available for 72, who form the evaluable population of the present study. After the initial therapy failure, 51 patients were treated with conventional salvage chemotherapy (CC) (n = 24) or high-dose chemotherapy (HDC) (n = 27); 4-year overall survival (OS) was 81% in the HDC group versus 38% in the CC group (P = 0.019). The remaining 21 patients had rapidly progressive disease and died. After a median follow-up of 2.8 years, the projected OS for all 72 patients is 58 and 49% at 3 and 5 years, respectively. Age <45 years, the absence of systemic symptoms and a PS <1 predicted a significantly longer OS. Interestingly, the majority of patients with two or three negative prognostic factors did not receive potentially curative therapy. In conclusion, HDC seems to be a reasonable option for selected patients with refractory HL, although the majority of them did not receive a transplant. Finally, patients with a high-risk score had little chance of receiving potentially curative treatment.
Adolescent↗
Endoscopic ultrasound-guided ethanol lavage of a pancreatic fluid collection.
Explore the source record for details and available documents.
Adult↗
[Varix of the extra-hepatic portion of the fetal intra-abdominal umbilical vein: pathogenesis, prenatal sonographic diagnosis, and perinatal outcome].
AIM: Aim of the study was to investigate pathogenesis, diagnosis, and prognosis of the fetal intra-abdominal umbilical vein varix (FIUVV). METHODS: We reviewed all cases of FIUVV diagnosed in our hospital from August 1999 to December 2002. The umbilical vein was considered dilated when the measurement was above 2 standard deviation of the mean for gestational age. In all cases prenatal echocardiography and post-natal karyotype were performed. Our cases were also considered in the light of all the cases of FIUVV reported in literature. RESULTS: FIUVV was diagnosed in 5 cases between 22 and 37 weeks' gestation, among an unselected population of pregnant woman. Karyotype was normal in all cases; an apparently isolated septal ventricular defect was present in one patient. No obstetrical complications due to the presence of FIUVV (i.e. thrombosis) were associated. CONCLUSIONS: In our case series no obstetrical complications, and only one mild fetal anomaly were present. In literature an high association has been reported between the presence of FIUVV and fetal anomalies and/or obstetrical complications. Fetal echocardiography and detailed US study of fetal anatomy is needed to exclude associated anomalies. Karyotype should be offered only when other fetal anomalies are present. In presence of FIUVV, a close fetal monitoring by serial color Doppler and ultrasonographic examinations should be performed.
Adult↗
The strange association between achondroplasia and neurofibromatosis type 1: molecular analysis of a new patient and review of the literature.
The association between Achondroplasia and Neurofibromatosis type 1 has been described in only three patients. We report the clinical features and molecular characterization of a new patient with de novo ACH and NF1, providing for the first time a detailed clinical and molecular evaluation. Even if this association seems coincidental, some startling, intriguing correlations are discussed at the clinical and molecular level, between ACH, NF, and the existence of a common "mutator" genotype.
Achondroplasia↗
Lapine rotaviruses of the genotype P[22] are widespread in Italian rabbitries.
An epidemiological survey was carried out to investigate the distribution of the VP7 and VP4 specificities of lapine rotaviruses (LRVs) in rabbitries from different geographical regions of Italy. Almost all the strains were characterized as P[22],G3, confirming the presence of the newly-recognized rotavirus P[22] VP4 allele in Italian rabbits. Only one P[14],G3 LRV strain was identified and two samples contained a mixed (P[14] + [22],G3) rotavirus infection. All the LRV strains analyzed exhibited a genogroup I VP6 specificity and a long dsRNA electropherotype. However, one of the P[14],G3 strains possessed a super-short pattern. Altogether, these data highlight the epidemiological relevance of the P[22] LRVs in Italian rabbitries.
Amino Acid Sequence↗
Fordyce granules and hereditary non-polyposis colorectal cancer syndrome.
BACKGROUND: Germline mutations in mismatch repair (MMR) genes are found in only about half of clinically diagnosed families with hereditary non-polyposis colorectal cancer syndrome (HNPCC) (or Lynch syndrome). Early identification of gene carriers is essential to reduce cancer incidence and overall mortality. AIMS: Recent evidence indicates an increase in size and number of sebaceous glands following activation of the hedgehog pathway, a crucial signalling pathway for animal development that is aberrantly activated in several types of cancer. Here we sought to assess a possible association between Fordyce granules (FGs-that is, ectopic sebaceous glands on the oral mucosa) and HNPCC. METHODS: A total of 15 members of five different genetically unrelated HNPCC kindreds (MLH1 gene mutation n = 8; undetectable MLH1 protein at immunochemistry n = 4; clinical diagnosis n = 3) and 630 genetically unrelated age and sex matched healthy controls were examined. Following examination of the oral mucosa surface, subjects were categorised as either FGs positive or FGs negative. RESULTS: Evidence of FGs was significantly associated with HNPCC (13/15 (86.7%) affected patients v 6/630 (0.95%) controls; p<0.0001), with a relative risk of 91.0 (95% confidence interval 40.05-206.76). The observed difference remained significant when carriers of germline mutations in MMR genes were considered (8/15 v 6/630; p<0.0001). The most common site for the FGs in HNPCC patients was the lower gingival and vestibular oral mucosa. CONCLUSIONS: Our findings suggest that a previously unrecognised activation of the sebaceous glands system occurs in HNPCC. The observation could be of value for attending physicians in identifying affected families and/or increase the accuracy of the currently available molecular genetics screenings.
Adaptor Proteins, Signal Transducing↗
FISH approach to determine cat eye syndrome chromosome breakpoints of a patient with cat eye syndrome type II.
We report a 19-year-old man with craniofacial dysmorphic features, anorectal malformations, eye colobomas, orthopaedic anomalies, and mild neurodevelopmental delay. Cat eye syndrome (CES) was suspected, and confirmed by cytogenetic analysis which showed the presence of a supernumerary bisatellited chromosome, identified by fluorescence in situ hybridization (FISH) as invdup(22). The marker was further analyzed with six BAC clones located at the 22q11.1 and 22q11.2 regions; this analysis allowed correct assignment at low copy repeat 4 on chromosome 22 (LCR22-4) of the two breakpoints, confirming the presence of a CES chromosome type II. The patient's phenotype is considered in the light of the cytogenetic, and FISH investigations results and other patients reported in literature. Molecular definition of the breakpoints at the LCR22-4 copy confirms the role of different chromosome 22-specific LCRs in CES chromosomes generation, as well as in other chromosome 22 germ line rearrangements. Our report confirms that, unlike other conditions, i.e. the invdup(15) bisatellited dicentric marker, the CES phenotype does not appear to correlate with the size of the marker chromosome. Additional cases are necessary to be able to draw more specific genotype-phenotype correlations and to determine the outcome of patients with CES, especially when this rare condition is diagnosed in prenatal age.
Abnormalities, Multiple↗
Relationship between body weight, quality of life and cardiovascular risk factors: a general population based Italian experience.
BACKGROUND: Within the framework of the Progetto Faenza, the aim of this study was to evaluate the effect of cardiovascular risk factors (CVRF) on the health-related Quality of Life (H-rQoL) of a cohort of patients in the province of Ravenna, on the basis of body mass index (BMI). METHODS: The following data were collected for each subject: age, sex, weight, height, glycemia, cholesterol (total, HDL and LDL), creatinine, uricemia, systolic arterial pressure (SAP) and diastolic arterial pressure (DAP), presence/absence of previous CV disorders, arterial hypertension, diabetes, antihypertensive therapy, smoking habits and physical exercise. To evaluate the H-rQoL the SF-36 general health survey questionnaire was used, filled in by the patient at the first examination. To test the significance of the differences between the groups (divided by classes of Body Mass Index) as regards the metabolic indicators, a univariate analysis of variance was performed; on the other hand, to assess which factors affect H-rQoL a multivariate analysis was carried out, considering p<0.05 as significant. The results are expressed as +/- 1SD. RESULTS: Of the 1108 subjects enrolled in the study, 343 subjects (31.2%), including 154 males with a mean age of 44.9 +/- 14.9 years, filled in the SF-36 questionnaire. A BMI within the normal range corresponds to a more satisfactory metabolic (p<0.05) and QoL (p=0.001) picture. Age (p<0.001), presence of previous CV disorders (p=0.005), the use of antihypertensive drugs (p=0.041) and physical exercise (p=0.002) correlated significantly with H-rQoL values. CONCLUSIONS: Health condition and perception are significantly affected by a clinical situation characterized by excess weight.
Adult↗