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Biomedical subjects

M Lombardo

Publications and source records attributed to M Lombardo.

At least 73 records · Page 4Linked to original sources

Increasing interdependency of prognosis- and therapy-related factors in Hodgkin's disease.

Two subsequent series of patients with Hodgkin's disease (HD) treated according to different therapeutic plans were compared: the study made it possible to analyze the role played by therapy in influencing the individual importance of a group of well-known prognostic factors. Study 1 concerned 667 patients treated in the period 1971-1979 without special measures for mediastinal bulky disease and with four-drug chemotherapy regimens (MOPP, COPP, ABVD) for stage B or IV. Study 2 included 220 patients treated between 1980 and 1984 with combined sandwich chemoradiotherapy when mediastinal bulk was present, and with eight-drug alternating chemotherapy regimens for stages B or IV (MOPP/ABVD, CcVPP/ABVD). Distribution of epidemiologic and clinical characteristics as well as staging accuracy were comparable in the two series. Only sex, serum albumin at onset and success or failure in achieving complete remission showed the same ability to discriminate survival in both studies. Age, stage and histology retained a reduced role in Study 2, where it was found they could be handled as binary variables, i.e. more or less than 50 years of age, stage IV or other stages, lymphocyte depletion histotype or other types. The influence of B symptoms on survival was sharply decreased in patients treated with alternating chemotherapy regimens, whereas combined sandwich therapy showed a truly leveling effect on the role of mediastinal bulk, which has to be considered a very unfavorable factor with other treatments. In HD the evaluation of clinical findings with respect to their impact on prognosis is crucial for validating and graduating the staging process, and for matching the intensity of the therapy to the needs of the patient. The ongoing evolution in the roles of single prognostic factors due to therapy needs periodic reevaluation for proper adjustments of therapeutic strategies.

Adolescent↗

Nucleotide variations in the 3' A gamma enhancer region are linked to beta-gene cluster haplotypes and are unrelated to fetal hemoglobin expression.

Molecular cloning and sequence analysis of a nondeletion form of Sicilian beta o hereditary persistence of fetal hemoglobinemia (HPFH) (mutation in IVS2 nt1 position) homozygous for haplotype III revealed the presence of four sequence variations: C----T at -158 5' to G gamma, T----C at +2285, C----A at +2476, and A----G at +2676, all 3' to A gamma. The latter three variations in the putative A gamma enhancer are identical to those observed in the case of Seattle HPFH. However, a severe beta o-thalassemia case from Algeria (mutation in IVS1 nt1 position), also homozygous for haplotype III, revealed the same nucleotide variation, albeit an inefficient HbF production. We conclude that the variations in the A gamma enhancer element do not play a role in the regulation of HbF production. To assess both the linkage of these sites with the beta-cluster haplotype and the extent of the polymorphism, we examined several black and Mediterranean chromosomes, by PCR amplification followed by both EspI digestion and oligonucleotide hybridization. Our data indicate that these sequence variations in the enhancer element are absent in Mediterranean haplotypes I, V, and VII but are consistently associated with Mediterranean haplotypes II, III, and IX, as well as with the black beta c-associated haplotype. The common feature of all the latter haplotypes is the presence of a polymorphic PvuII site between A gamma and psi beta, which is thus in linkage disequilibrium with the variations in the A gamma enhancer.(ABSTRACT TRUNCATED AT 250 WORDS)

Base Sequence↗

Beta S gene in Sicily is in linkage disequilibrium with the Benin haplotype: implications for gene flow.

Hemoglobin beta-like gene cluster haplotypes defined by restriction enzyme polymorphic sites are useful in determining the origin of the beta S gene found in several human populations. We present here evidence that the beta S gene found among Sicilians is associated with the same haplotype observed among sickle cell anemia patients from Central West Africa. In addition, this haplotype is either nonexistent or very rare among normal Sicilian individuals. We conclude that the beta S gene was introduced to Sicily from North Africa and that the gene flow originated in Central West Africa and traveled north through historically well-defined trans-Saharan commercial routes.

Anemia, Sickle Cell↗

[Left ventricular hypertrophy in hypertension: functional aspects].

The purpose of this study was to detect the anatomical and functional response of the left ventricle in essential, uncomplicated hypertension. Fifty outpatients, whose hypertension (DBP greater than 95 mmHg on three separate visits) had been documented from few weeks to a maximum of 5 years, showing neither electrocardiographic abnormalities nor other signs referable to target organ damage, underwent an M-mode, computerised echocardiographic study. Twenty-seven patients has never been treated, and 23 patients were withdrawn from previous treatments for at least one month. Echocardiographic data of the left ventricle were compared with those of 38 normals, matched by sex, age and body surface area. Hypertensives showed a significant increase in both LV mass index (p less than 0.001) and relative wall thickness (p less than 0.001), a pattern of concentric hypertrophy, which prevented an inappropriate rise in wall tension. Twenty-four patients, whose LV mass was above the mean normal value plus two standard deviations, were considered to have left ventricular hypertrophy. The remaining 26 patients were classified as non hypertrophic, for their mass resulted lower than the mean value of controls plus 2 SD: left ventricular mass was 152 +/- 32 g/m2 and 97 +/- 19 g/m2, respectively (p less than 0.001). Systolic performance was enhanced in both subgroups of hypertensives, since their values of fractional shortening and those of mean-Vcf were both above the line which represents the normal relationship with end-systolic stress. Diastolic relaxation, evaluated by means of time to peak filling rate, was impaired only in the hypertensive subjects with increased LV mass (p less than 0.001 vs. normotensive), being retained in the non-hypertrophic patients. In the whole hypertensive group, LV mass index poorly correlated with casual systolic blood pressure (r = 0.31; p less than 0.05), while time to peak filling rate showed a good correlation with LV mass index (r = 0.76; p less than 0.001). We conclude that: 1) in essential hypertension without electrocardiographic abnormalities or target organ damage, echocardiographic left ventricular hypertrophy is a rather frequent finding; 2) the pattern of concentric hypertrophy, by reducing the increase in wall tension due to pressure load, contributes to the retained, or enhanced, systolic performance seen in our series; 3) on the other hand, left ventricular filling seems to be impaired in relation to the degree of myocardial hypertrophy.

Adult↗

Heterogeneity of haplotypes among patients with severe Cooley disease in Eastern Sicily.

There is a large variation of clinical severity among thalassemic patients in Sicily. A heterogeneous molecular basis has already been demonstrated among the patients presenting with thalassemia intermedia. The same approach, based mostly on linked haplotypes of the beta gene cluster polymorphisms and in some cases on the demonstration of the molecular defect itself, was used to investigate 55 patients presenting with severe Cooley anemia, all maintained under permanent transfusion regimen. A large heterogeneity was demonstrated in the observed haplotypes, and only a limited overlap with those already found in thalassemia intermedia. It has been noted that many of the patients are compound heterozygotes, the various observed associations making the antenatal diagnosis at the DNA level difficult in the near future.

Adolescent↗

Cystic meningiomas. Report of seven cases.

Seven patients with cystic meningioma are reported. The computerized tomography appearance of these meningiomas may mimic that of a glial or metastatic tumor with cystic or necrotic changes, and lead to an incorrect presumptive diagnosis. Radiological evaluation and recognition are important for the surgical removal of these potentially curable neoplasms.

Adolescent↗

Haplotype VI associated beta + thalassaemia intermedia. First Italian case.

We report the study of a family originating from eastern Sicily with mild beta thalassaemia intermedia which is similar both at a molecular level and in clinical form to that called "beta + thalassaemia intermedia-Portuguese type". Our patients were homozygous beta + thalassaemics with high HbA2 and low HbF levels. The mild clinical course was as a result of their age and because regular blood transfusion was established only in adulthood. All of the heterozygote parents were asymptomatic with a blood picture and haemoglobin pattern typical of beta thalassaemia. Studies at a molecular level revealed no abnormalities in the beta-like globin gene cluster and excluded the presence of a deletional form of alpha thalassaemia. Restriction enzyme site polymorphisms around the beta gene cluster showed that all patients were homozygous for the haplotype described as VI. Comparison of these homozygous haplotypes with the Portuguese ones revealed a clear difference in the polymorphic Pvu II site. In all Sicilian homozygous cases, this site was present on one chromosome and absent on the other. Therefore our hypothesis is that Portuguese beta + thalassaemia intermedia is different from the Sicilian type.

Adult↗

Effect of ventricular fibrillation complicating acute myocardial infarction on long-term prognosis: importance of the site of infarction.

Identification of high-risk subgroups of patients after acute myocardial infarction (AMI) is essential for evaluation of targeted preventive strategies. A case-control study was performed in 250 post-AMI patients to examine whether an episode of ventricular fibrillation (VF) during the in-hospital period modifies the long-term prognosis for patients with either an anterior or an inferior AMI. After identification of 70 patients with an anterior AMI and 55 patients with an inferior AMI, all complicated by VF and discharged alive, we selected 125 additional patients who had an AMI not complicated by VF (control subjects). To minimize the potential sources of differences in outcome, cases and controls were matched for the following variables: sex (all men), age (same +/- 2 years), coronary care unit (same), epoch of AMI (same +/- 3 months), and site of AMI (same). Left ventricular dysfunction and prior AMI were present in only a few patients. Patients receiving either acute or long-term treatment with beta-adrenergic blocking agents were not included. The average follow up was 59 months (range 12 to 120). The cumulative mortality during the first 5 years for the patients with inferior AMI without VF (6%, 11%, 13%, 13% and 13%) was modest and not significantly different from that of inferior AMI complicated by VF (6%, 11%, 20%, 20%, and 26%). In contrast, a striking difference appeared when the cumulative mortality of patients with anterior AMI without VF (9%, 13%, 17%, 27%, and 29%) was compared with that of patients with anterior AMI complicated by VF (32%, 40%, 46%, 49% and 54%) (p less than 0.005).(ABSTRACT TRUNCATED AT 250 WORDS)

Aged↗

Comparison of three different methods of monitoring unwanted effects during antihypertensive therapy.

In a double-blind, randomized, crossover, multicenter study performed in 227 hypertensive outpatients, two antihypertensive drugs, oxprenolol and chlorthalidone, were investigated to determine unwanted effects. Three main methodologic procedures were applied: the conventional evaluation of unwanted effects by the physician and involving the whole patient population, the checklist, and the free questionnaire. The latter two were assigned by randomization to the patients themselves. The study showed that unwanted effects seem to be frequently overreported when a checklist is used, whereas the free questionnaire gives more information about the symptoms of the disease than about the tolerance of the drug. The conventional method, when physicians are well-informed and sensitized to the problem, seems to provide more reliable information about unwanted effects of a drug.

Adolescent↗

Effects of moderate salt restriction in hypertensive patients treated with oxprenolol or chlorthalidone.

Ninety-five hypertensive out-patients, whose lying diastolic blood pressure was still greater than or equal to 95 mm Hg after a 4-week treatment with oxprenolol slow release 160 mg/day or chlorthalidone 25 mg/day, restricted their daily sodium intake for a 4-week period, while continuing to receive the previous pharmacological therapy. The dietary intervention, appositely formulated to moderately restrict sodium intake, resulted in a high patient compliance as assessed by the significant (p less than 0.01) reduction in the 24-hour urinary sodium excretion. At the end of the 4-week dietary period, a significant (p less than 0.01) decrease in lying and standing systolic and diastolic blood pressure was observed in both the oxprenolol and chlorthalidone treated groups. These results suggest that a moderate reduction in sodium intake, obtained from a low sodium diet characterized by high patient compliance and easily followed in everyday life, is effective in lowering blood pressure in hypertensive patients who don't respond satisfactorily to pharmacological therapy alone.

Adult↗

Left ventricular mass and function before and after antihypertensive treatment.

We have studied the effect of blood pressure control upon left ventricular mass and function. Twenty hypertensive patients without clinical or electrocardiographic signs of cardiac involvement were given sequentially: placebo for two weeks; captopril (250 mg/day) for eight weeks; and captopril (125 mg/day), alone or combined with chlorthalidone (25 mg/day), for eight weeks. M-mode echocardiography was performed at the end of placebo period, after eight and after 16 weeks active treatment. Blood pressure was significantly reduced (p less than 0.01) by therapy, the maximum decrease being observed at the end of the study. Similarly, interventricular septal thickness, posterior wall thickness and left ventricular mass index showed a significant reduction (P less than 0.01 at the eighth and P less than 0.001 at the 16th week), while no changes were detected in left ventricular function. Furthermore, both wall stress index at end-diastole and end-systolic stress were significantly lowered by treatment (at the 16th week P less than 0.01 and P less than 0.001, respectively). Baseline systolic blood pressure was inversely correlated with the ratio of the left ventricular radius to posterior wall thickness (r = -0.97, P less than 0.001) but no relation was found between post-treatment fall in either systolic or diastolic blood pressure and left ventricular mass index. After treatment more patients showed normal left ventricular wall thickness in relation to systolic blood pressure. We conclude that in uncomplicated hypertensive patients captopril, either alone or combined with chlorthalidone, can reverse left ventricular hypertrophy by decreasing both septal and posterior wall thickness.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗