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Biomedical subjects

Stefano Mariotti

Publications and source records attributed to Stefano Mariotti.

10 recordsLinked to original sources
PubMed2006

Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management.

OBJECTIVE: Familial isolated primary hyperparathyroidism (FIPH) can result from either incomplete expression of a syndromic form of familial primary hyperparathyroidism [multiple endocrine neoplasia type 1 (MEN 1), hyperparathyroidism-jaw tumour syndrome (HPT-JT) or familial hypocalciuric hypercalcaemia (FHH)] or still unrecognized causes. Design Genetic analyses of MEN1, HRPT2 and CASR genes in FIHP. PATIENTS: Seven well-characterized Italian kindreds with FIHP, with negative clinical features for MEN 1, HPT-JT and FHH. The mean age (+/- SD) at diagnosis was 45 +/- 17 years (range 18-70 years) in the probands and 42 +/- 18 years (range 15-69 years) in the other affected subjects. MEASUREMENTS: Direct sequencing of germline DNA of the MEN1, HRPT2 and CASR genes from probands. The region of interest was amplified in some family members. RESULTS: Germline MEN1 mutations were detected in three kindreds. Multiglandular involvement was found in all but one affected subject belonging to the three kindreds with MEN1 mutations. In these patients persistence/relapse of the disease was observed unless an extensive parathyroidectomy (excision of 3(1)/(2) glands) had been performed, with the exception of one patient, who is currently normocalcaemic 168 months after excision of two glands. No mutations of MEN1, HRPT2 and CASR genes were identified in the remaining four families. CONCLUSIONS: MEN1 genotyping appears worthwhile in FIHP families, as the finding of mutation(s) may predict multiglandular involvement and therefore have practical surgical implications, and prompt further investigation in the family, with the possibility of identifying new cases and beginning a programme of periodic surveillance for emergence of tumours in all carriers.

Adenoma↗
PubMed2005

A case control study on psychiatric disorders in Hashimoto disease and Euthyroid Goitre: not only depressive but also anxiety disorders are associated with thyroid autoimmunity.

OBJECTIVE: To evaluate the association between mood and anxiety disorders in Hashimoto disease and Euthyroid Goitre in a case control study. METHODS: Cases included 19 subjects with Hashimoto disease in euthyroid phase, 19 subjects with euthyroid goitre, 2 control groups each of 76 subjects matched (4/1) according to age and sex drawn from the data base of a community based sample. Psychiatric diagnoses were formulated using the International Composite Diagnostic Interview Simplified, according to DSM-IV criteria. All subjects underwent a complete thyroid evaluation including physical examination, thyroid echography and measure of serum free T4 (FT4), free T3 (FT3), thyroid-stimulating hormone (TSH) and anti-thyroid peroxidase autoantibodies (anti-TPO). RESULTS: Subjects with Hashimoto disease showed higher frequencies of lifetime Depressive Episode (OR = 6.6, C.L. 95% 1.2-25.7), Generalized Anxiety Disorders (OR = 4,9 Cl 95% 1.5-25.4) and Social Phobia (OR = 20.0, CL 95% 2.3-153.3) whilst no differences were found between subjects with goitre and controls. CONCLUSION: The study seems to confirm that risk for depressive disorders in subjects with thyroiditis is independent of the thyroid function detected by routine tests and indicates that not only mood but also anxiety disorders may be associated with Hashimoto disease.

Journal Article↗
PubMed2005

Median eminence dopaminergic nerve terminals: a novel target in autoimmune polyendocrine syndrome?

CONTEXT: Autoantibodies to adenohypophyseal endocrine cells or to vasopressin neurohypophyseal neurons have long been known. Conversely, autoimmune targeting of further hypothalamic-hypophyseal structures, such as the blood-brain barrier-deprived median eminence, has been little studied. OBJECTIVE AND METHODS: We studied a case of autoimmune polyendocrine syndrome type I with GH secretory deficiency, a distinctly rare event in autoimmune polyendocrine syndrome type I. We used rat and bovine tissue substrates to study autoantibodies against hypothalamic-hypophyseal nerve structures and endocrine cells. RESULTS: In the study case, circulating autoantibodies selectively decorated median eminence dopaminergic nerve terminals, as well as pituitary gonadotropes, but not GHRH nerve terminals or pituitary somatotropes. Such autoantibodies appeared de novo in parallel with the onset of GH secretory deficiency, whereas no median eminence labeling was found in patients suffering of idiopathic GH deficiency (n = 7) or in healthy controls (n = 23). CONCLUSIONS: The pathophysiological significance of our patient's autoantibodies remains to be confirmed. Nonetheless, the heterogeneous neuroendocrine structures of the median eminence are pointed out as potential immune targets, relevant to autoimmune polyendocrinopathy, as well as to a wide range of other conditions.

Adolescent↗
PubMed2005

Cardiac function in borderline hypothyroidism: a study by pulsed wave tissue Doppler imaging.

OBJECTIVE: In subclinical hypothyroidism (SH), impaired diastolic function has been documented at rest and on effort, while systolic dysfunction has only been assessed on effort. DESIGN: The aim of the present study was: (a) to further assess systolic function at rest in SH; and (b) to ascertain whether cardiac dysfunction could precede TSH increase in euthyroid patients with a high risk of developing SH. METHODS: We studied 32 patients with classical Hashimoto's thyroiditis (22 with increased serum TSH (> 3 mU/ml - group A), and 10 with normal serum TSH (< 3 mU/ml - group B)); a third group (C), which included 13 healthy controls. All subjects underwent pulsed wave tissue Doppler imaging (PWTDI) to accurately quantify the global and regional left ventricular function. RESULTS: When compared with group C, PWTDI indices showed that in both groups A and B there was a significant impairment of systolic ejection (P < 0.001 and P < 0.05, respectively), a delay in diastolic relaxation (P < 0.001 and P < 0.05, respectively) and a decrease in the compliance to the ventricular filling (P < 0.05). Several significant correlations were found between PWTDI parameters and serum-free T(3) and T(4) and TSH concentrations. CONCLUSION: PWTDI is a sensitive technique that allows detection of both diastolic and systolic abnormalities, not only in patients with SH, but also in euthyroid subjects with a high risk of developing thyroid failure. Futhermore, the significant correlations of several PWTDI indices with serum FT(3) and TSH concentrations strongly support the concept of a continuum spectrum of a slight thyroid failure in autoimmune thyroiditis extending to subjects with serum TSH still within the normal range.

Adult↗
PubMed2005

Rhabdoid tumor of the thyroid gland: a variant of anaplastic carcinoma.

Rhabdoid tumor of the thyroid gland is a very rare neoplasm, characterized by significant metastatic potential. All of the 6 cases reported in the recent literature had poor outcomes. We report an additional case involving, to our knowledge, the oldest patient reported so far. A 67-year-old woman had a nodular goiter for all of her adult life and presented with a rapidly growing mass in the right lobe. Histologic examination showed a highly cellular neoplasm with a solid infiltrative growth pattern. Extracapsular invasion was evident. Rhabdoid cells were large, with abundant cytoplasm, eosinophilic inclusions, and eccentric nuclei containing distinct nucleoli. Immunohistochemistry identified vimentin, sarcomeric actin, myoglobin, and cytokeratin expression in the tumor cells; they were negative for desmin, thyroglobulin, and calcitonin. Scattered follicles with nuclear features of papillary thyroid carcinoma were detected; these cells were immunoreactive for thyroglobulin and TTF-1. Reverse transcriptase polymerase chain reaction using specific primers for RET/PTC1 and RET/PTC3 fusion genes identified a RET/PTC3 gene rearrangement in the rhabdoid tumor. Despite radiotherapy, the neoplasm rapidly progressed, with massive local and mediastinal metastasis leading to death 5 months after presentation. The hypothesis that rhabdoid tumor is a variant of anaplastic thyroid carcinoma is supported by the identification of a RET/PTC gene rearrangement, a feature of carcinomas of follicular cell derivation.

Aged↗
PubMed2004

The link between thyroid autoimmunity (antithyroid peroxidase autoantibodies) with anxiety and mood disorders in the community: a field of interest for public health in the future.

BACKGROUND: To evaluate the association between mood and anxiety disorders and thyroid autoimmunity in a community sample. METHODS: A community based sample of 222 subjects was examined. Psychiatric diagnoses were formulated using the International Composite Diagnostic Interview Simplified (CIDIS), according to DSM-IV criteria. All subjects underwent a complete thyroid evaluation including physical examination, thyroid echography and measure of serum free T4 (FT4), free T3 (FT3), thyroid-stimulating hormone (TSH) and anti-thyroid peroxidase autoantibodies (anti-TPO). RESULTS: 16.6% of the overall sample had an anti-TPO value above the normal cut-off. Subjects with at least one diagnosis of anxiety disorders (OR = 4.2, C.L. 95% 1.9-38.8) or mood disorders (OR = 2.9, Cl 95% 1.4-6.6, P < 0.011) were positive for serum anti-TPO more frequently than subjects without mood or anxiety disorders. A statistically significant association with anti-TPO+ was found in Anxiety Disorder Not Otherwise Specified (OR = 4.0, CL 95% 1.1-15.5), in Major Depressive Episode (OR = 2.7, CL 95% 1.1-6.7) and Depressive Disorder Not Otherwise Specified (OR = 4.4, S CL 95% 1-19.3). CONCLUSIONS: The study seems to suggest that individuals in the community with thyroid autoimmunity may be at high risk for mood and anxiety disorders. The psychiatric disorders and the autoimmune reaction seem to be rooted in a same (and not easy correctable) aberrancy in the immuno-endocrine system. Should our results be confirmed, the findings may be of great interest for future preventive and case finding projects.

Adult↗
PubMed2003

Aneuploidy in oncocytic lesions of the thyroid gland: diffuse accumulation of mitochondria within the cell is associated with trisomy 7 and progressive numerical chromosomal alterations.

Oncocytic cells are characterized by a greatly increased number of mitochondria that distend the cell cytoplasm and result in a distinctive granular appearance of the cell on conventional histology sections. Oncocytes are frequently found in metabolically active human tissues including the thyroid gland, and, as a general rule, when their proportion in a thyroid tumor is greater than 75% the tumor is referred to as oncocytic (Hürthle cell) adenoma or carcinoma. Such tumors represent a subset of thyroid lesions, and recently, both interphase fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH) studies reported that they may show aneuploidy, with widespread numerical chromosomal alterations. In contrast, very few cases have been studied by conventional cytogenetic analysis. Whether the cells with chromosomal changes are the same as those with mitochondrial accumulation or whether lesions only partially composed of oncocytic cells also have cytogenetic alterations is unclear. To investigate the relationship between acquisition of the oncocytic phenotype and numerical chromosomal changes, we analyzed a random selection of thyroid lesions with (18 cases) and without (11 cases) morphological evidence of oncocytic differentiation. Lesions with oncocytes included hyperplastic nodules, adenomas, Hürthle cell tumors, and papillary carcinomas with lymphocytic stroma (Whartin-like tumors of the thyroid). Karyotypic changes were analyzed by cytogenetic analysis, FISH, or CGH, and the results were compared with in situ analysis of mitochondrial accumulation by immunofluorescence. A striking correlation between the presence of oncocytes and the presence of aneuploid katyotypes was seen in the oncocytic follicular thyroid nodules, but not in the oncocytic papillary tumors. Structural chromosome changes or normal karyotypes were observed in the lesions lacking oncocytic features. Extending the FICTION technique to the evaluation of a cytoplasmic antigen (mitochondrial membrane antigen), we pursued the simultaneous visualization of both mitochondrial increase and numerical chromosomal alterations, and showed that oncocytes of follicular lesions are prone to become aneuploid. Our data support the contention that follicular tumors composed of oncocytes should be regarded as a distinct subset.

Adolescent↗
PubMed2002

Association between panic disorder, major depressive disorder and celiac disease: a possible role of thyroid autoimmunity.

OBJECTIVE: To evaluate the association between celiac disease and specific anxiety and depressive disorders and to identify potential common pathogenetic links, with particular regard to thyroid function and autoimmunity. METHODS: Cases included 36 adult celiac patients, 25 females and 11 males, aged 18-64 years. Controls comprised 144 healthy subjects matched by sex and age with no clinical evidence or family history of celiac disease. Diagnosis of celiac disease was made on the basis of clinical history and serological criteria. Psychiatric diagnoses were formulated using the International Composite Diagnostic Interview, according to DSM-IV criteria. Thyroid was evaluated by palpation, echography and measurement of serum-free thyroid hormones (FT4, FT3), thyroid-stimulating hormone (TSH) and antithyroid autoantibodies (anti-TPO). RESULTS: Compared to controls, a significantly higher number of celiac patients met criteria for lifetime [15 (41.7%) versus 30 (29.8%), P < .01] and 6-month [7 (19.4%) versus 9 (6.2%), OR = 3.2, chi(2) = 5.2, P < .05] major depressive disorder (MDD) and lifetime [5 (13.9%) versus 3 (2.1%), P < .001] and 6-month [3 (8.1%) versus 2 (1.4%), P < .05] panic disorder (PD). Anti-TPO prevalence was significantly higher in celiac patients than in the control group (11/36 = 30.5% versus 14/144 = 9.7%, P < .001). A higher frequency of PD and MDD was found in celiac patients with positive anti-TPO when compared to negative anti-TPO patients (4/11 = 36.4% PD in TPO+ versus 1/25 = 4% PD in TPO-, P < .01; 9/11 = 81.8% MD in TPO+ versus 6/25 = 9.5% MD in TPO-, P < .01). CONCLUSION: Patients affected by celiac disease tend to show a high prevalence of PD and MDD and association with subclinical thyroid disease appears to represent a significant risk factor for these psychiatric disorders.

Adolescent↗
PubMedDate not supplied

Correlation of computerized gray-scale sonographic findings with thyroid function and thyroid autoimmune activity in patients with Hashimoto's thyroiditis.

PURPOSE: The objective of this study was to retrospectively assess whether computerized gray-scale sonography can allow objective measurement of thyroid echogenicity in patients with Hashimoto's thyroiditis (HT) at various functional stages of the disease. METHODS: Of the 77 patients with HT who were included in our study, 28 had been euthyroid, 20 had had subclinical hypothyroidism, and 29 had had clinical hypothyroidism. Of those with clinical hypothyroidism, 6 had been untreated and 23 had been receiving L-thyroxine substitution therapy. Fifty volunteers without thyroid disease served as a control group. Thyroid echogenicity was evaluated by computerized gray-scale sonography as mean tissue density (MTD) +/- standard deviation; the echogenicity of the prethyroid muscles served as a control of the system variability. RESULTS: The MTD was significantly lower for the patients with HT (15.9 +/- 4) than for the control subjects (24.3 +/- 3; p < 0.05). Moreover, a significant difference was found between the MTD values of euthyroid patients with HT (18.9 +/- 3.4) and hypothyroid patients with HT analyzed either as a group (14.3 +/- 3.8) or separately for subclinical hypothyroidism (14.9 +/- 3.8) and clinical hypothyroidism (13.9 +/- 3.7; p < 0.05). The lowest MTD was found in patients with untreated clinical hypothyroidism (11.1 +/- 4.3), with a significant difference (p < 0.05) compared to all other groups of patients. Untreated patients with clinical hypothyroidism also showed the highest mean anti-thyroid peroxidase autoantibody levels (1,286 +/- 177 IU/ml versus 570 +/- 489 IU/ml for L-thyroxine-treated patients; p < 0.05), although no correlation between the MTD values and anti-thyroid peroxidase autoantibody levels was found in any group of patients. CONCLUSIONS: Computerized gray-scale sonography provides an objective measure of thyroid hypoechogenicity, which correlates well to the clinical stages of HT. Use of this modality may prove beneficial in the diagnosis and follow-up of patients with HT.

Adolescent↗