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Biomedical subjects

S Mariotti

Publications and source records attributed to S Mariotti.

At least 55 records · Page 3Linked to original sources

High prevalence of thyroid dysfunction in adult patients with beta-thalassemia major submitted to amiodarone treatment.

Amiodarone may induce hyper- or hypothyroidism. Patients with beta-Thalassemia Major (beta-Thal) have an increased prevalence of primary hypothyroidism and often require amiodarone for hemosyderotic cardiomyopathy. Aim of this study was to retrospectively evaluate thyroid function in beta-Thal adult patients on long-term amiodarone. The study group consisted of twenty-two (21 males, 1 female; age: 23-36 yr) beta-Thal patients submitted to long-term (3-48 months) amiodarone therapy from January 1991 to July 1996. Controls included 73 beta-Thal patients (23 males and 50 females aged 25-35 yr) not treated with amiodarone. In all cases serum free thyroid hormones, thyrotropin and thyroid autoantibodies were evaluated. A higher prevalence of overt hypothyroidism (5/22 [22.7%]) as compared to controls (3/73 [4.1%], p=0.02) was found in beta-Thal patients < or = 3 months after starting amiodarone, while the prevalence of subclinical hypothyroidism was similar in amiodarone-treated (18.2%) and untreated (15%) beta-Thal patients. Overt hypothyroidism resolved spontaneously after amiodarone withdrawal in 1 case, while the remaining patients were maintained euthyroid on amiodarone by L-thyroxine administration. After 21-47 months of amiodarone therapy, 3 patients (13.6%) developed thyrotoxicosis (2 overt and 1 subclinical), which remitted shortly after amiodarone withdrawal. No case of hyperthyroidism was observed in beta-Thal controls (p=0.012 vs amiodarone-treated patients). In conclusion, amiodarone administration is often associated in adult beta-Thal patients to a rapid progression of the pre-existing subclinical hypothyroidism, but transient thyrotoxicosis may also be observed after a longer period of therapy. These findings should be carefully considered in the management of these patients.

Adult↗

Differential expression of a new tumor-associated antigen, TLP, during human colorectal cancer tumorigenesis.

Tumour liberated particles (TLP) have been proposed as a potential new serum tumor marker. In particular, a high percentage of patients with early stages of lung cancer scored positive for serum TLP, suggesting its possible role as a marker for early diagnosis of disease. The aim of the present study was to analyze the expression of TLP in the colorectal adenoma-carcinoma sequence in order to determine whether its expression correlates with the various stages of cancer transformation. TLP distribution was assessed by immunohistochemistry in normal, premalignant, and malignant colorectal lesions. Normal colonic mucosa and hyperplastic polyps showed no positive staining, whereas adenomas and adenocarcinomas reacted to anti-TLP serum. The percentage of positive tumor cells increased from adenomas with mild dysplasia to adenomas with severe dysplasia. Moreover, a supranuclear staining pattern was observed mainly in adenomas with mild dysplasia, whereas adenomas with severe dysplasia as well as adenocarcinomas showed a characteristic diffuse staining pattern and a strong staining intensity. Only a few cases of adenocarcinoma were found to be TLP-negative and all were poorly differentiated. Our results suggest that TLP antigen expression may be considered as a marker of epithelial atypia in the colorectal tract and as a potential target for new diagnostic and/or therapeutic approaches to human colorectal cancer.

Adenocarcinoma↗

Long-term immunologic effects of thymectomy in patients with myasthenia gravis.

BACKGROUND: Thymectomy (Tx) is a common therapeutic option to treat myasthenia gravis (MG), but its effects on the immune system are still obscure in humans. OBJECTIVE: We sought to evaluate long-term immunologic effects of therapeutic Tx in patients with MG. METHODS: T- and B-cell subsets and T-cell repertoire were analyzed in 35 patients with MG, 16 with previous Tx (at least 8 years before), 6 with recent (<1 year) Tx, and 13 without Tx, as well as in 32 healthy subjects used as normal control subjects. Serum immunoglobulins and a variety of autoantibodies were also measured. A subsequent 3-year clinical follow-up was performed to verify the possible appearance of systemic autoimmune diseases. RESULTS: The long-term thymectomized (Txd) patients had mild T-cell lymphopenia and an expansion of some Vbeta families among circulating CD4+ and CD8+ T cells. They displayed a normal number of total B and CD5+ B-circulating lymphocytes, but they also displayed a polyclonal increase in serum IgM and IgG associated with the presence of high levels of a variety of organ- and nonorgan-specific autoantibodies, including anti-dsDNA and anticardiolipin, without clinical evidence of autoimmune disease. These serologic abnormalities were not detectable in both non-Txd and recently Txd patients. After 3 years, 2 long-term Txd patients had systemic lupus erythematosus and an undifferentiated connective tissue disease. CONCLUSIONS: The association between MG and laboratory findings of systemic autoimmune disease may be in part related to Tx rather than to MG. Tx may represent a risk for the development of systemic autoimmune disorders over years in patients with MG.

Adult↗

AKEntAnnos. The Sardinia Study of Extreme Longevity.

This paper describes an epidemiological study performed in all centenarians living in Sardinia, a large island located in the Mediterranean sea, 120 Km from the Italian coast. Due to its long-standing isolation, low immigration rate, high endogamy and rather uniform lifestyle, Sardinia offers an ideal setting in which to study the genetic traits associated with extreme longevity and successful aging. A total of 233 potentially eligible centenarians were traced in the entire territory. Of these, 66 died prior to being interviewed, 11 were not found and unknown, and 15 refused to be interviewed. A multidimensional home interview was administered to 141 centenarians, and an equivalent number of 60-year-old controls matched for gender and area of residence. Furthermore, 41 living siblings of the centenarians, and 41 age- and sex-matched controls for these siblings were also studied. The prevalence of centenarians was 13.56 per 100,000, and the female/male ratio was approximately 2. Prevalence and female/male ratio were consistent across the four Sardinian municipalities and are, respectively, higher and lower than those reported in other population-based surveys. A number of methodological problems confronted in doing the field work, and plans for future analysis of this rich dataset are discussed.

Activities of Daily Living↗

Thyroid autoimmunity and aging.

Aging is associated with the appearance of several serum autoantibodies, including thyroid autoantibodies. The biological and clinical significance of this phenomenon is still unknown, because, with the exception of primary myxedema, the prevalence of clinically overt thyroid autoimmune diseases is not increased in the elderly. The peculiar link between autoimmune thyroid failure and aging is also underscored by the high prevalence of subclinical hypothyroidism in elderly subjects with positive serum thyroid autoantibodies, and could be the consequence of preferential age-dependent expression of destructive effector mechanisms and/or increased target gland susceptibility. Thyroid autoimmunity and subclinical hypothyroidism have been also implicated in the pathogenesis of other age-associated disorders, in particular coronary heart disease. Interestingly, recent data from our laboratories showed that thyroid autoantibodies are rare in healthy centenarians and in other highly selected aged populations, while they are frequently observed in unselected or hospitalized elderly. Taken together, these data suggest that thyroid autoimmune phenomena are not the consequence of the aging process itself, but rather might be related to age-associated disease.

Aging↗

Serotype and phage type distribution of salmonellas from human and non-human sources in Italy in the period 1973-1995.

According to the data collected at the Rome-based National Reference Centre for Enterobacteria, 266,547 Salmonella strains isolated from human sources (226,513) and from non human sources (40,034) were characterised in Italy during the period 1973-1995. The serotype of all isolates, and the antibiotype and phage type of selected isolates were determined. Human-source isolations grew from 4372 in 1973 to 12,310 in 1995: non-human source isolations, from 339 in 1973 to 3459 in 1995. Salm. Typhimurium ranked first in the list of the most common serotypes isolated from both sources in the period 1973-1988 except in the years 1975 and 1976 when it was overtaken by Salm. Wien. Since 1983 Salm. Enteritidis has been among the top ten isolates from animals, and ranked first in the list of isolates from humans in 1988 and from non human sources in 1991. During the last years the number of multidrug-resistant strains, mostly belonging to phage types 104 and 193 of Salm. Typhimurium has been rising. Salmonella strains have also been isolated from numerous extraintestinal infections, almost exclusively caused by Salm. Enteritidis and Typhimurium.

Animals↗

Thyroid and celiac disease: clinical, serological, and echographic study.

OBJECTIVE: We sought to reevaluate the prevalence of thyroid dysfunction and thyroid autoimmunity in 47 patients with celiac disease; 91 healthy subjects were studied as controls. Both patients and controls were from Sardinia, Italy. METHODS: Diagnosis of celiac disease was made on the basis of clinical history, presence of positive antigliadin IgA (AGA-A) and IgG (AGA-G) antibodies, antireticulin antibodies (ARA), antiendomysium antibodies (EMA), and was confirmed by jejunal biopsy. HLA class II typing for DQB1 and DQA1 alleles was performed in 36/47 celiac patients. Thyroid was evaluated by palpation and echography; serum free thyroid hormones (FT4, FT3), thyrotropic hormone (TSH), and antithyroid peroxidase autoantibodies (anti-TPO) were assayed by radioimmunoassays. RESULTS: The prevalence of anti-TPO was higher in celiac patients (29.7%) than in healthy controls (9.6%) (p < 0.001) and thyroid echography frequently displayed (42.5%) a hypoechogenic pattern. Five anti-TPO-positive celiac patients were hypothyroid (two overt, three subclinical). A higher but not significantly different prevalence of anti-TPO (3/7 = 42.8%) was found in celiac patients displaying the DQB1*0502 genotype, when compared with the remaining patients (8/29 = 27.6%). CONCLUSIONS: An elevated prevalence of clinical and subclinical autoimmune thyroid autoimmunity was found in Sardinian celiac patients, especially in those displaying the DQB1*0502 genotype; this finding could be related to a particular genetic background of the Sardinian population.

Adult↗

Factors associated with gallstone disease in the MICOL experience. Multicenter Italian Study on Epidemiology of Cholelithiasis.

The epidemiological associations of gallstone disease were evaluated in a general population sample of 29,584 individuals (15,910 men and 13,674 women; age range, 30-39 years) belonging to 14 cohorts examined between December 1984 and April 1987. Subjects were screened for the presence of gallstones by gallbladder ultrasonography, completed a questionnaire, and underwent a physical examination and blood chemistry tests. Participants were considered to have gallstone disease if they had already had cholecystectomy or gallstones. Statistical associations were established by univariate analysis of the age-standardized data and by stepwise multiple logistic regression. Increasing age and body mass index and a maternal family history of gallstone disease were the most consistent associations (both at univariate and multivariate analysis and in both sexes) found in this study. Personal history of dieting was associated with gallstone disease in men, and at univariate analysis, in women. Decreasing serum total cholesterol levels and increasing serum triglycerides were associated with gallstone disease in both sexes in the multivariate analysis. In women, associations were also found with a number of pregnancies and paternal family history of gallstone disease. A slight but negative association with contraceptive pill use was identified only at multivariate analysis. Associations (investigated at univariate analysis) were also found with diabetes, cirrhosis, angina or myocardial infarction, and peptic ulcer. There was no association with smoking habits and use of aspirin or antirheumatic drugs.

Adult↗

Parathyroid carcinoma and primary autoimmune hypothyroidism in an elderly woman.

Severe hyperparathyroidism due to parathyroid carcinoma and Hashimoto's thyroiditis was observed in a 69-yr-old Sardinian woman. To our knowledge, this association has not been reported so far. Given the high prevalence of autoimmune disease in elderly women, a random occurrence of the two conditions could represents the most probable explanation.

Aged↗

Lactose intolerance following antithyroid drug medications.

We recently observed 2 lactase-deficient women with Graves' disease who consistently developed severe diarrhea after ingestion of thionamide (methimazole and propylthiouracil) tablets containing lactose as carrier. The strict temporal relationship between ingestion of lactose-containing tablets and appearance of intestinal symptoms, as well as the absence of side effects following ingestion of methimazole tablets without lactose as carrier, provided the clue for the diagnosis. To our knowledge, severe diarrhea resulting from carrier lactose has not been previously reported for antithyroid drugs, and should be considered in occasional cases of patients with gastrointestinal symptoms on thionamide therapy.

Adult↗

Thyroid diseases in the elderly.

The ageing thyroid is associated with a number of morphological and functional changes, such as decreased serum T3 and mean thyroid-stimulating hormone concentrations, that are to some extent independent of intercurrent non-thyroidal illnesses. All thyroid diseases, including clinical and subclinical hypo- and hyperthyroidism, non-toxic nodular goitre and thyroid cancer, are encountered in the elderly, but their prevalence and clinical expression differ from those observed in younger patients. In the elderly, autoimmune hypothyroidism is particularly prevalent, hyperthyroidism is mainly characterized by cardiovascular symptoms and is frequently due to toxic nodular goitres, and differentiated thyroid carcinoma is more aggressive. The interpretation of thyroid function tests is difficult in old individuals, because of age-associated changes in thyroid function and frequent alterations secondary to non-thyroidal illnesses and/or drugs. Treatment of thyroid disease deserves special attention in old patients because of the increased risk of complications.

Aged↗

Circulating telopeptide type I is a peripheral marker of thyroid hormone action in hyperthyroidism and during levothyroxine suppressive therapy.

The aim of the present investigation was to evaluate the clinical performance of serum carboxy-terminal-1-telopeptide (ICTP), a new marker of bone resorption, in identifying peripheral overexposure to thyroid hormones, as compared with serum osteocalcin (OC) and serum sex hormone binding globulin (SHBG). Serum ICTP, SHBG, and OC were assayed by specific radioassays in three study groups. Group 1: 50 perimenopausal women on long-term levothyroxine (LT4) suppressive treatment; group 2: 29 women with untreated hyperthyroidism; group 3: 36 normal euthyroid women matched with group 1 patients for age, alcohol, smoking habits, and lifestyle. Serum concentrations of SHBG, ICTP, and OC were markedly increased in hyperthyroid patients, whereas only serum ICTP was slightly but significantly increased in LT4 treated patients. Serum ICTP had higher diagnostic value for hyperthyroidism when compared with SHBG and to OC (sensitivity: 100%, 71%, 55%; accuracy: 97%, 88%, and 76%, respectively). In group 1, increased serum ICTP was observed in 30 of 50 patients, whereas increased SHBG and OC were found only in 11 of 50 (p < .001). Serum free thyroid hormone concentrations correlated with circulating ICTP and SHBG, and the correlation with serum OC was of lower significance. In conclusion, serum ICTP is a sensitive and reliable marker of peripheral thyroid hormone activity at the bone level; its clinical performance is higher than OC and even better than SHBG. Thus, serum ICTP is better than other peripheral markers in monitoring LT4 suppressive therapy in patients at increased risk for osteoporosis such as perimenopausal women.

Adult↗

Association of lipoprotein(a) levels and apolipoprotein(a) phenotypes with coronary heart disease in patients with essential hypertension.

BACKGROUND: Besides hypertension, several cardiovascular risk factors can play a role in the development of coronary heart disease (CHD) in hypertensive patients. Lipoprotein(a) [Lp(a)] is an important and independent cardiovascular risk factor, but its role in the development of CHD in hypertensives has not been studied. OBJECTIVE: To investigate whether or not Lp(a) levels and isoforms of apolipoprotein(a) [apo(a)] are predictors of CHD in patients with essential hypertension. METHODS: Lp(a) levels and apo(a) polymorphism were evaluated in 249 patients with essential hypertension, in 142 non-hypertensive patients with CHD and in 264 healthy controls. RESULTS: Hypertensives with CHD (n = 61) had Lp(a) levels [19 (range 0.5-73.5) versus 7 mg/dl (range 0-83.5), P < 0.001] and a percentage of apo(a) isoforms of low (< 655 kDa) relative molecular mass (RMM, 59.2 versus 25.9%, P < 0.001) higher than did those without CHD (n = 188). Moreover, there were more subjects with at least one apo(a) isoform of low RMM in the subgroup of patients with CHD than there were in that of those without CHD (80.3 versus 30.8%, P< 0.001). Lp(a) levels and apo(a) polymorphism did not differ significantly between hypertensive and non-hypertensive patients with CHD. Stepwise regression analysis indicated that high Lp(a) levels (P= 0.002073) and particularly the presence of at least one apo(a) isoform of low RMM (P < 0.000001) are strong predictors of CHD in hypertensive patients. CONCLUSIONS: Our data show that high Lp(a) levels and the presence of at least one apo(a) isoform of low RMM are strong and independent genetic risk factors for CHD in hypertensive patients. These findings suggest that Lp(a) and apo(a) isoforms should be assessed together with other cardiovascular risk factors to establish the overall CHD risk status of each hypertensive patient

Aged↗

Value of thyroid echography in the long-term follow-up of lithium-treated patients.

Psychiatric patients on long-term lithium (Li) therapy frequently develop goiter and/or hypothyroidism. It has also been suggested that Li may trigger/exacerbate thyroid autoimmunity. Previous studies provided evidence that underlying thyroid diseases represent important predisposing factors for the development of Li-induced thyroid dysfunction. The aim of the present paper was to assess the value of thyroid ultrasound-a simple and reliable tool to detect subtle thyroid abnormalities-in the longitudinal evaluation of 23 Li-treated psychiatric patients without evidence of biochemical thyroid abnormalities before therapy. For this purpose, thyroid ultrasound was associated with a clinical and laboratory (serum thyroxine, serum triiodothyronine, serum TSH, antithyroglobulin (AbTg), antithyroid microsomal (AbM) and antithyroid peroxidase autoantibodies) evaluation prior to and at 6- to 12-month intervals during Li treatment. On the basis of thyroid ultrasound before Li, patients were subdivided into two groups: group A (n = 15, 7 males, 8 females) with a normal echography and group B (n = 8, 5 males, 3 females) with mild ultrasound abnormalities. In group A the development of a small diffuse goiter was confirmed by physical examination during Li therapy; 2 patients displayed a transient increase of serum TSH concentration and none developed detectable serum antithyroid autoantibodies. Beside the small volumetric increase, no other ultrasound abnormalities were observed during the entire follow-up. In all group B patients a mild diffuse goiter was clinically detected before and on Li administration and no significant volumetric changes were observed during follow-up. Two patients developed high titers of AbM and AbTg 12 and 18 months after the beginning of Li, respectively; in 1 a persistent increase of serum TSH concentration was also observed. Thyroid echography before Li displayed different degrees of scattered or diffuse hypoechogenicity and a further decrease in echogenicity was detected during Li therapy in 2 patients. In conclusion, we provided further evidence that long-term Li administration is not associated with de novo appearance of thyroid autoimmune phenomena in humans, but rather with an exacerbation of underlying thyroid autoimmunity. In addition to thyroid autoantibody and TSH measurements, thyroid echography appears to be a sensitive tool in the identification of patients at risk of developing autoimmune hypothyroidism during long-term Li therapy.

Adult↗

Sardinia: a battlefield approach to type I diabetes epidemiology. Sardinia-IDDM Study Groups.

Sardinia and Finland have the highest incidence of insulin-dependent diabetes mellitus (IDDM) in the world. Therefore, both regions represent ideal observatories for investigating the environmental, genetic and immunological factors which have led to this dramatic increase. We have concentrated our efforts on Sardinia. Among several projects, there is the mapping of the island for hot and cold spots for overt IDDM. In order to map the island for pre-IDDM, we have collected and bled around 10,000 school children (age 6-14 years) and we are now in the process of enrolling around 30,000 new-born babies. We report here our initial results, which show that progression to IDDM is accompanied in both cohorts by the presence of a combination of islet-cell antibodies with either glutamic acid decarboxylase or IA-2 antibodies or both. This approach should lead to the design of reliable models of IDDM prediction in the general population, which will benefit an early insulin treatment and, hopefully, an effective prevention of the disease.

Adolescent↗

Mild clinical expression of myasthenia gravis associated with autoimmune thyroid diseases.

Myasthenia gravis (MG) may occur in association with autoimmune thyroid diseases (AITD). The aim of this study was to evaluate the features of MG associated with AITD compared to those of MG without AITD. A total of 129 MG patients (34 men and 95 women; age range, 11-81 yr) were subdivided into: group A, 56 MG patients with AITD [25 with autoimmune thyroiditis and 31 with Graves' disease (GD)]; group B, 21 MG patients with nonautoimmune thyroid diseases; and group C, 52 MG patients without thyroid disease. The severity of MG was ranked according to the Osserman score. Laboratory evaluation included assays for antithyroid and antiacetylcholine receptor (AchRAb) antibodies. Ocular MG (Osserman's class 1) was more frequent in group A (41.0%) than in group B (14.2%; P < 0.03) or C (21.4%; P < 0.03). Severe generalized MG (classes > or = 2B) was more frequent in groups B (57.1%; P < 0.03) and C (51.9%; P < 0.02) than in group A (28.5%). GD patients with clinical evidence of ophthalmopathy had a higher frequency (P = 0.05) of ocular MG (57.8%) than GD patients without clinical ophthalmopathy (16.6%). Thymic disease was less frequent in group A (26.7%) than in group B (71.4%; P = 0.001) or C (59.7%; P = 0.001). The prevalence of thymic hyperplasia was 17.8%, 38.0%, and 40.3% in groups A, B, and C, respectively; the prevalence of thymoma was 8.9%, 33.4%, and 19.4%. When only patients with generalized MG were considered, thymic disease was less frequent (P < 0.02) in group A (40.6%) than in the remaining groups (69.4%). AchRAb was more frequent in groups B (57.1%) and C (57.6%; P < 0.03) than in group A (35.7%). In conclusion, MG associated with AITD has a mild clinical expression, with preferential ocular involvement and lower frequency of thymic disease and AchRAb. This supports the hypothesis that ocular and generalized MG are separate diseases with different spectra of associated diseases. Nonautoimmune thyroid diseases have no influence on the features of MG. The association of ocular MG and AITD might be due to a common autoimmune mechanism and/or a peculiar genetic background.

Adolescent↗

A sentinel network of general practitioners for epidemiologic surveillance in Italy.

A Computer Network of General Practitioners (GP's) has been established connecting 110 general practitioners representing a statistically selected national sample, homogeneously distributed all over Italy. The purpose of the network is to increase the epidemiologic surveillance on the health status of the Italian community, to collect useful data on the routine activity of the GP's, to promote computer use among them, and to organize some "ad hoc" investigations on specific subjects (case-control studies). To this purpose, a specific software was developed both to meet the requirements of epidemiological research and to manage general practitioners' clinical files. A working prototype of health card using micro-computer technology is also being experimented on a subset of the GP's.

Computer Communication Networks↗

A database on pesticides in Italy: a progress report.

An existing database on pesticides, running in the DOS/Windows environment, is operative at the National Institute of Health and has yielded useful informations for several published researches. The database is currently being restructured for the purpose of making it available on the Web. An HTML interface, allowing to formulate queries on the database from the Web is presently under development, and it will be made available, once the problems related to confidentiality of certain parts of the database are solved. The database in its present form is presented and necessary changes foreseen in the Web edition are discussed.

Computer Communication Networks↗