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Biomedical subjects

M Di Natale

Publications and source records attributed to M Di Natale.

At least 19 recordsLinked to original sources
PubMed2006

The effects of APOE and tau gene variability on risk of frontotemporal dementia.

Frontotemporal dementia (FTD) is a complex dementing syndrome whose genetic/non genetic risk factors are mostly unknown. Aim of the present work was to investigate whether APOE and/or tau gene variability does affect the risk of FTD. A sample of FTD cases (sporadic: n = 54; familial: n = 46, one subject per family) was collected in a genetically homogeneous population (Calabria, southern Italy) and analyzed in comparison with an age- and sex-matched control group (n = 180) extracted from the same population. Logistic regression analysis showed that APOE gene variability affects the probability of disease, with allele epsilon4 increasing (exp(beta1) = 2.68 with [1.51-4.76] 95% confidence interval; p = 0.001) and allele epsilon2 decreasing (exp(beta1) = 0.28 with [0.12-0.66] 95% confidence interval; p = 0.003) the risk of FTD. On the contrary, tau gene variability was ineffectual (exp(beta1) non significantly different from 1 for either H1 or H2 haplotypes), although a small effect was observed by the H1 haplotype in increasing the protective effect of the epsilon2 allele (p = 0.007).

Adult↗
PubMed2005

Capture of mercury ions by natural and industrial materials.

In this paper the technical feasibility of various adsorbents for mercury removal from contaminated waters has been studied. Adsorption isotherms of mercury ions in aqueous solution have been experimentally measured on a granular activated carbon (Aquacarb 207EA), a char, a pozzolana and a yellow tuff. The experimental evidences show that the mercury capture capacity of yellow tuff and char is of few tenths of milligrams per gram of sorbent while for the pozzolana and the activated carbon this value is of the order of 1mg/g of sorbent. Moreover, for a mercury concentration as high as 3000 microg/l the pozzolana shows the highest adsorption capacity. This result seems to be quite interesting, especially in consideration of the extremely low cost of this natural sorbent.

Carbon↗
PubMed2004

A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene.

Three members of an Italian family with autosomal dominant dementia and multiple strokes had the A713T mutation of the APP gene. The neuropathologic examination of the proband disclosed Alzheimer disease (AD) with severe cerebral amyloid angiopathy and multiple infarcts. This indicates that the A713T mutation of the APP gene, lying at the gamma-secretase cleavage site, can be responsible for AD with symptomatic cerebral amyloid angiopathy.

Alzheimer Disease↗
PubMed2002

A large Calabrian kindred segregating frontotemporal dementia.

Frontotemporal dementia (FTD) displays significant neuropathological and genetic heterogeneity among and within affected families. An early diagnosis is often difficult because cognitive symptoms are manifest only at a late stage of the disease. We have been studying a large pedigree segregating frontotemporal dementia (FTD) to which belong 34 identified affected persons, 11 of whom were personally examined. The kindred has been genealogically reconstructed; all FTD patients have been linked to the same ancestors who lived in the early 18(th) century (11 generations before the present one). Autosomal dominant transmission was evident. Clinical features were uniform within the kindred and met the Lund-Manchester criteria. Personality changes with absence of insight, lack of empathy and of social awareness manifested up to 5 years before medical advice was sought. Loss of fluency was the earliest neuropsychological sign, in the absence of memory, orientation and praxis deficits, which evolved late, together with hyperorality. Akinesia was observed early, rigidity appeared late, tremor was absent. Two patients showed myoclonus late in their evolution. No ALS signs were observed in this kindred. Mutations of the MAPt gene, coding for the Tau protein, were not detected in affected family members. Linkage studies excluded chromosomes 3 and 9 and gave indeterminate results that were model dependent for chromosome 17.

Adult↗
PubMed1999

A simple method for Emax trend evaluation: in vitro and in vivo results.

The aim of this study is the evaluation of end systolic ventricular elastance trend (as a measure of heart contractility) by hemodynamic variables available in intensive care units or during heart surgery: heart rate, cardiac output, left atrial, mean and diastolic arterial pressure. Its basic assumption is the description of ejection as the interaction between variable left ventricular and arterial compliances (reciprocal of the corresponding elastances) connected in parallel. As pressure is the same in each compliance at systole beginning and ending, ventricular elastance can be estimated by assuming that energy variation is the same on both compliances. The algorithm has been tested on a numerical simulator of the circulatory system and on six sheep at basal conditions and during drug infusion. Correlation function in numerical simulation, between true and computed ventricular elastance (range 0.45 divided by 5 mm Hg-cm(-3)), yields 0.985. In vivo comparison between computed ventricular elastance trend and ventricular dp/dt trend yields a correlation function ranging between 0.87 and 0.99. The result of the algorithm cannot be assumed to be Emax value. However, it can be considered a contractility index as it closely follows any change in dp/dt. It can be computed by simple calculations and needs no variables other than those usually measured in intensive care . It allows the extrapolation of useful information for evaluating the trend in heart contractility and for setting up a control strategy for mechanical or pharmacological assistance during heart recovery.

Algorithms↗
PubMed1995

[Retrospective study of 135 cases of lung neoplasms diagnosed between 1983 and 1993].

The authors expose the results of a retrospective study concerning 135 cases of neoplasia diagnosed by their Department between 1983 and 1993. The patients' age, their sex, their consume of tobacco, their survival from the moment of the diagnosis have been considered in the study. Likewise the clinical instrumental researches and their reliability, the different incidence of the examined pathology in the first and in the second part of the period considered. It is emerged from the collected data, that also in our territory there is an increasing tendency in the incidence of lung neoplasia, a generally short survival after the diagnosis, a strong prevalence of smokers among those people affected from the disease, the difficulty of an early diagnosis due to scarce specificity of the commonest symptoms. The final auspicious is that a more incisive diligence in prevention and significant progresses in clinical pharmacological research may determine a notable reduction of the incidence of such a dramatic pathology.

Adult↗
PubMed1995

[Extrapulmonary tuberculosis. An unusual case].

Skeletal tuberculosis with extravertebral location is rare. We report a case of tuberculous osteomyelitis simultaneously affecting two right ribs and the left ulna. We emphasize the diagnostic problems (failure or delay in diagnosis) in extrapulmonary tuberculosis interesting uncommon sites and having relatively indolent presenting symptoms.

Aged↗
PubMed1994

[The effect on left ventricular mass of treatment with amlodipine and diet therapy in obese patients with arterial hypertension].

Increased parietal stress, in hypertensive obese patients, produces a left ventricular hypertrophy. In this study we demonstrated that the association of amlodipine with hypocaloric diet can decrease the parietal stress. MATERIALS AND METHODS. From February to July 1993 32 hypertensive obese patients (17 males, 15 females) were treated with amlodipine 10 mg/day for six months. Sixteen patients were treated with amlodipine 10 mg/day (Group A) and 16 patients were treated with amlodipine 10 mg/day and hypocaloric diet (Group B). All patients included had a Body Mass Index > 30 and diastolic blood pressure > 100 mmHg. The patients were studied with 2D guided M-mode echocardiogram before treatment and after 6 months. RESULTS. In Group A the septal thickness, the posterior wall thickness and the left ventricular mass decreased significatively (p < 0.05). In the Group B also the left ventricular diastolic diameter and the left atrial diameter decreased. CONCLUSION. The association of a hypocaloric diet with amlodipine therapy, in hypertensive obese patients, improves the effect of the drug on ventricular hypertrophy.

Amlodipine↗
PubMed1993

[Angioimmunoblastic lymphadenopathy with dysproteinemia: personal experience with 3 cases and review of the literature].

OBJECTIVE: We report personal experience on 3 cases of angioimmunoblastic lymphadenopathy with dysproteinemia (AILD). We stress the prognostic and therapeutic aspects of this rare disease, that remain still unclear in recent literature. DESIGN: We performed a retrospective study on 3 cases of AILD, with a mean follow-up of 32.6 months (range 30-36). SETTING: Internal Medicine Unit. PATIENTS: We observed three patients, 2 males and 1 female, with a mean age of 65 years (range 51-72), with AILD confirmed by histopathological exams and evidence of unfavorable prognostic features at the time of diagnosis. INTERVENTIONS: 2 patients received polychemotherapy with cyclophosphamide+prednisone; cyclophosphamide + vincristine + prednisone. One patient was treated with low doses of prednisone (25 mg/day). MEASUREMENTS: We evaluated the degree of response (absent, partial, complete) an the time of survival (< 18 months or > 24 months). RESULTS: Response to therapy was partial in all patients; 1 patient underwent a severe bone marrow depression. All patients were alive for more than 24 months. CONCLUSIONS: The clinical course was independent of therapy (intensive or symptomatic) and prognostic criteria in all 3 patients. At present AILD is considered as a potentially malignant disease. Polychemotherapy must be used as a first choice treatment.

Blood Protein Disorders↗
PubMed1993

Aortic intussusception: a rare presentation of type A aortic dissection evidenced by transesophageal echocardiography.

Thoracic aorta dissection involving the ascending tract (type A) is an affection which can often become lethal. The possibility of reaching immediate diagnosis and setting up surgical treatment are fundamental for the patient prognosis. In the case report, trans-esophageal echocardiography (TEE) made it possible to reach an immediate diagnosis of an unusual presentation of the dissection of type A, the intussusception of the aorta, not diagnosed by other non invasive methodologies, thus permitting timely surgical treatment.

Aortic Dissection↗