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2.
Child Neurol Open ; 6: 2329048X19828881, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30793011

RESUMO

NKX2-1 mutations have been usually associated with a non-progressive neurological disease. Recent reports revealed a vast variability regarding its clinical expressivity. Aim of this work was widening the Benign Hereditary Chorea neurological, cognitive and behavioral phenotype through the description of a child and her family pedigree. Molecular analysis focused on NKX2-1 gene revealed a novel frameshift mutation in the three-generation members described. Cognitive scales detected a relevant developmental delay, and the clinical observation and Autism Diagnostic Observation Schedule -2 administration allowed the diagnosis of autism spectrum disorder in the proband. Microarray testing, further executed to exclude a double hit contextually provoking the complex neurodevelopmental disorder, revealed the 22q11.2 Duplication Syndrome. This paper may contribute to enlarge Benign Hereditary Chorea variable expressivity and, together with other studies reported in the literature, underlines the need to reconsider the term "benign," verifying the opportunity of more a complex diagnosis.

3.
Clin Case Rep ; 6(12): 2299-2302, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30564316

RESUMO

We report the case of a patient with the coexistence of Graves' disease and autonomously functioning thyroid nodules. Because of the suspicious ultrasound pattern, he was submitted to fine-needle aspiration of the hot nodule and cytology revealed a papillary thyroid cancer. After total thyroidectomy a papillary thyroid cancer was found.

4.
Thyroid ; 28(10): 1318-1324, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30132418

RESUMO

BACKGROUND: The outcomes of patients with thyroid cancer proven by histology in patients in whom cytology was Thy 3 (indeterminate; Thy 3 patients in this study) based on the Italian consensus classification compared with those in whom cytology was Thy 4 (suspicious for malignancy) or Thy 5 (indicative for malignancy) (Thy 4-5 patients here) remains unclear. OBJECTIVE: To analyze the outcome of 371 Thy 3 patients versus 269 Thy 4-5 patients homogeneously treated with total thyroidectomy and 131I activity. RESULTS: T1 stage was observed in 46.0% of Thy 3 and in 38.8% of Thy 4-5 patients (p = 0.02), N0 in 95.9% of Thy 3 and in 75.5% of Thy 4-5 patients (p < 0.0001). 35/261 (9.6%) Thy 3 and 85/269 (31.5%) Thy 4-5 patients required >30 mCi of 131I (p < 0.0001). 359/371 (96.8%) Thy 3 and 232/269 (86.2%) Thy 4-5 patients were free of disease at the end of follow-up (p < 0.001). The time required to obtain 50% of patients in remission was 2 years in Thy 3 and 4 years in Thy 4-5 patients (p < 0.001). The most common histological type was the follicular variant of papillary thyroid carcinoma (FV-PTC) in Thy 3 patients (239/371, 64.4%) and the classic variant in Thy 4-5 patients (185/269; 68.8%). The FV-PTC had better prognostic features compared with the other PTC variants: T1 stage was observed in 133/277 (48.0%) FV-PTC patients and in 146/363 (40.0%) patients with the other variants (p < 0.001), N0 was present in 265/277 (96.0%) FV-PTC and in 290/363 (79.8%) patients with the other variants (p < 0.001). Overall, 267/277 FV-PTC patients (96.4%) and 324/363 patients (89.0%) with the other variants were free of disease (p < 0.0008) at the end of follow-up, and the time required to obtain 50% of patients in remission was 2 years in FV-PTC and 4.0 years in the other variants (p < 0.001). CONCLUSION: Patients with Thy 3 cytology have better outcomes of thyroid cancer compared with patients with Thy 4 or Thy 5 cytology, and indeterminate cytology is commonly associated with the less aggressive FV-PTC.


Assuntos
Adenocarcinoma Folicular/patologia , Metástase Linfática/patologia , Câncer Papilífero da Tireoide/patologia , Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/patologia , Adenocarcinoma Folicular/cirurgia , Adulto , Idoso , Biópsia por Agulha Fina , Intervalo Livre de Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Prognóstico , Câncer Papilífero da Tireoide/cirurgia , Glândula Tireoide/cirurgia , Neoplasias da Glândula Tireoide/cirurgia , Nódulo da Glândula Tireoide/cirurgia , Tireoidectomia
5.
Eur J Endocrinol ; 178(6): 589-594, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29559498

RESUMO

DESIGN: Graves' disease (GD) patients in remission after a full course of methimazole (MMI) therapy are at risk for a relapse of hyperthyroidism during the post-partum (PP) period, but whether this relapse may display any peculiarity is still unknown. Aim of this study was to compare GD patients undergoing a relapse of hyperthyroidism either in the PP period or not. METHODS: We retrospectively evaluated forty-three GD female patients in their childbearing age who experienced a relapse of hyperthyroidism. Eighteen of them relapsed in the PP period (i.e. within 12 months after delivery, PP group); the remaining 25 relapsed elsewhere during life (NPP group). RESULTS: Age at relapse, thyroid volume, thyroid function tests, TRAb titers, smoking habit, presence and degree of orbitopathy and duration of methimazole (MMI) treatment did not differ in the two groups. However, the remission rate was much greater (79%) in the PP as compared with the NPP (32%) group (P = 0.002). A significant reduction in TRAb levels occurred at 12-month MMI treatment in the PP (F = 9.016; P = 0.001), but not in the NPP group (F = 2.433; NS). At 12 months, the PP group had significantly lower mean TRAb levels (0.6 ± 1.1 U/L and 4.5 ± 4.7 U/L in the PP and the NPP group, respectively; P = 0.029). CONCLUSIONS: Relapsing Graves' hyperthyroidism in the PP period is more prone to undergo a remission after a second course of MMI treatment. In these patients, a conservative therapeutic approach is more appropriate.


Assuntos
Antitireóideos/uso terapêutico , Doença de Graves/tratamento farmacológico , Metimazol/uso terapêutico , Período Pós-Parto/fisiologia , Adulto , Feminino , Doença de Graves/sangue , Humanos , Metimazol/administração & dosagem , Recidiva , Indução de Remissão , Estudos Retrospectivos , Testes de Função Tireóidea , Hormônios Tireóideos/sangue
6.
Thyroid ; 27(1): 103-110, 2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-27809694

RESUMO

BACKGROUND: Thyroid ultrasound (US) elastography provides an estimation of tissue stiffness and is helpful to differentiate malignant from benign lesions. Tissue proprieties and molecules causing stiffness are not established. The aim of the study was to correlate US elastography findings with tissue properties in thyroid nodules. METHODS: A total of 115 thyroid nodules from 112 patients who underwent surgery for the presence of Thy 3 (indeterminate) cytology (n = 67), Thy 4-5 (suspicious-indicative of carcinoma) cytology (n = 47), or large goiter in the presence of Thy 2 cytology (n = 1) and suspicious US features were examined by US elastography. Tissues obtained after surgery were characterized for cell number, microvessel density, fibrosis, and expression of galectin-3 (Gal-3) and fibronectin-1 (FN-1). RESULTS: Low elasticity on qualitative US elastography (LoEl) was found in 66 nodules (one benign and 65 carcinomas); high elasticity (HiEl) was found in 49 nodules (46 benign and three carcinomas; p < 0.0001). Quantitative analysis, performed in 24 nodules and expressed as elastic ratio between the strain of the nodule and that of the surrounding thyroid parenchyma, showed a mean of 1.90 (interquartile range [IQR] 1.18-2.77) in 14 nodules with LoEl, and a mean of 1.01 (IQR 0.91-1.10) in 10 nodules with HiEl (p = 0.002). Stiffness did not correlate with cell number and was inversely correlated with microvessel density. Fibrosis was higher in nodules with LoEl than in those with HiEl (p = 0.009) and in carcinomas than in benign nodules (p = 0.02). Fibrosis was higher in nodules with high expression of Gal-3 (p < 0.001) and FN-1 (p = 0.004). Fibrosis and expression of Gal-3 and FN-1 were higher in the classic compared with the follicular variant of papillary thyroid carcinoma and lower in follicular adenomas. CONCLUSIONS: Low elasticity at US elastography is highly correlated with malignancy. Nodule stiffness is correlated with fibrosis and expression of Gal-3 and FN-1. These features are more evident in the classic than in the follicular variant of papillary thyroid carcinoma.


Assuntos
Adenoma/diagnóstico por imagem , Carcinoma/diagnóstico por imagem , Técnicas de Imagem por Elasticidade , Fibronectinas/metabolismo , Galectina 3/metabolismo , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Nódulo da Glândula Tireoide/diagnóstico por imagem , Adenoma/metabolismo , Adenoma/patologia , Adulto , Carcinoma/metabolismo , Carcinoma/patologia , Diagnóstico Diferencial , Elasticidade , Feminino , Fibrose/diagnóstico por imagem , Fibrose/metabolismo , Fibrose/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias da Glândula Tireoide/metabolismo , Neoplasias da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/metabolismo , Nódulo da Glândula Tireoide/patologia
7.
Int J Endocrinol ; 2016: 3204083, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27493664

RESUMO

Introduction. We evaluated the effects of a therapy that combines myo-inositol (MI) and D-chiro-inositol (DCI) in young overweight women affected by polycystic ovary syndrome (PCOS), characterized by oligo- or anovulation and hyperandrogenism, correlated to insulin resistance. Methods. We enrolled 46 patients affected by PCOS and, randomly, we assigned them to two groups, A and B, treated, respectively, with the association of MI plus DCI, in a 40 : 1 ratio, or with placebo (folic acid) for six months. Thus, we analyzed pretreatment and posttreatment FSH, LH, 17-beta-Estradiol, Sex Hormone Binding Globulin, androstenedione, free testosterone, dehydroepiandrosterone sulphate, HOMA index, and fasting glucose and insulin. Results. We recorded a statistically significant reduction of LH, free testosterone, fasting insulin, and HOMA index only in the group treated with the combined therapy of MI plus DCI; in the same patients, we observed a statistically significant increase of 17-beta-Estradiol levels. Conclusions. The combined therapy of MI plus DCI is effective in improving endocrine and metabolic parameters in young obese PCOS affected women.

8.
Transl Res ; 176: 81-94, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27172385

RESUMO

Thyroid nodules are common in the general population and vary widely in their propensity to harbor thyroid malignancies. The category of follicular lesion of undetermined significance, for instance, carries only a 15% risk of malignancy. The overarching aim of this work was the proteomic study of thyroid cancer because more effort needs to be placed on differentiating malignant thyroid nodules to avoid unnecessary thyroidectomy. We used 2-dimensional electrophoresis coupled to nano-liquid chromatography electrospray ionization tandem mass spectrometry, to examine fine-needle aspiration (FNA), which was easily attainable from the wash of the syringe used for classical FNA biopsy. Overall, we found 25 different proteins able to discriminate benign from malignant samples. The different expression of moesin; annexin A1 (ANXA1); cornulin (CRNN); lactate dehydrogenase; enolase; protein DJ-1; and superoxide dismutase was confirmed in FNA by enzyme-linked immunosorbent assay or Western blot. Receiver operating characteristic curves were calculated to investigate the discriminative power of our marker. The best performance in diagnosis was obtained by combining ANXA1, enolase, protein DJ-1, superoxide dismutase, and CRNN. In addition, the most highly ranked proteins, from the perspective of follicular lesion of undetermined significance, were ANXA1 and CRNN. The research of these candidate biomarkers has then been widened to other biological fluids, such as serum and whole saliva. In conclusion, we believe that when a decision by a thyroid nodule biopsy cannot be distinctly made, the combination of our biomarkers may be one of the criteria to be taken into account for the final decision, together with the identification of ANXA1 in serum and saliva.


Assuntos
Proteômica/métodos , Glândula Tireoide/metabolismo , Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/diagnóstico , Nódulo da Glândula Tireoide/patologia , Anticorpos/metabolismo , Biomarcadores/sangue , Biópsia por Agulha Fina , Western Blotting , Estudos de Casos e Controles , Demografia , Diagnóstico Diferencial , Eletroforese em Gel Bidimensional , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Curva ROC , Reprodutibilidade dos Testes , Saliva/metabolismo , Sensibilidade e Especificidade
10.
J Immunol ; 194(9): 4199-206, 2015 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-25801430

RESUMO

Graves' disease (GD) is an autoimmune thyroid disease defined by the production of stimulating autoantibodies to the thyroid-stimulating hormone receptor (TSHR) (TSAbs) that induce a sustained state of hyperthyroidism in patients. We previously demonstrated that TSHR, the target of this autoimmune response, is also a key susceptibility gene for GD, probably acting through thymic-dependent central tolerance. We also showed that TSHR is, unexpectedly, expressed in thymocytes. In this report, we confirm the expression of TSHR in thymocytes by protein immunoblotting and quantitative PCR, and show that expression is confined to maturing thymocytes. Using functional assays, we show that thymic TSHR is functional and that TSAbs can stimulate thymocytes through this receptor. This new activity of TSAbs on thymocytes may: 1) explain GD-associated thymic enlargement (hyperplasia), and 2) suggest the provocative hypothesis that the continuous stimulation of thymocytes by TSAbs could lead to a vicious cycle of iterative improvement of the affinity and stimulating capability of initially low-affinity antibacterial (e.g., Yersinia) Abs cross-reactive with TSHR, eventually leading to TSAbs. This may help to fill one of the gaps in our present understanding of unusual characteristics of TSAbs.


Assuntos
Autoanticorpos/imunologia , Doença de Graves/imunologia , Ativação Linfocitária/imunologia , Receptores da Tireotropina/imunologia , Timócitos/imunologia , Adolescente , Criança , Pré-Escolar , Humanos , Lactente , Receptores da Tireotropina/genética , Timócitos/citologia
11.
J Bone Miner Res ; 30(5): 906-12, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25403028

RESUMO

Hypocalcemia and hyperphosphatemia because of resistance toward parathyroid hormone (PTH) in the proximal renal tubules are the most prominent abnormalities in patients affected by pseudohypoparathyroidism type Ib (PHP-Ib). In this rare disorder, which is caused by GNAS methylation changes, resistance can occur toward other hormones, such as thyroid-stimulating hormone (TSH), that mediate their actions through G protein-coupled receptors. However, these additional laboratory abnormalities are usually not recognized until PTH-resistant hypocalcemia becomes clinically apparent. We now describe four pediatric patients, first diagnosed with subclinical or overt hypothyroidism between the ages of 0.2 and 15 years, who developed overt PTH-resistance 3 to 20 years later. Although anti-thyroperoxidase (anti-TPO) antibodies provided a plausible explanation for hypothyroidism in one of these patients, this and two other patients revealed broad epigenetic GNAS abnormalities, which included loss of methylation (LOM) at exons AS, XL, and A/B, and gain of methylation at exon NESP55; ie, findings consistent with PHP-Ib. LOM at GNAS exon A/B alone led in the fourth patient to the identification of a maternally inherited 3-kb STX16 deletion, a well-established cause of autosomal dominant PHP-Ib. Although GNAS methylation changes were not detected in additional pediatric and adult patients with subclinical hypothyroidism (23 pediatric and 39 adult cases), hypothyroidism can obviously be the initial finding in PHP-Ib patients. One should therefore consider measuring PTH, along with calcium and phosphate, in patients with unexplained hypothyroidism for extended periods of time to avoid hypocalcemia and associated clinical complications.


Assuntos
Pseudo-Hipoparatireoidismo/sangue , Tireotropina/sangue , Adulto , Pré-Escolar , Cromossomos Humanos Par 20/genética , Epigênese Genética , Éxons/genética , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Pseudo-Hipoparatireoidismo/genética , Sintaxina 16/genética , Adulto Jovem
12.
Eur J Endocrinol ; 171(5): 615-21, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25305309

RESUMO

BACKGROUND: Levothyroxine (l-T4) is commonly employed to correct hormone deficiency in children with congenital hypothyroidism (CH) and in adult patients with iatrogenic hypothyroidism. OBJECTIVE: To compare the daily weight-based dosage of the replacement therapy with l-T4 in athyreotic adult patients affected by CH and adult patients with thyroid nodular or cancer diseases treated by total thyroidectomy. DESIGN AND METHODS: A total of 36 adult patients (27 females and nine males) aged 18-29 years were studied; 13 patients (age: 21.5±2.1, group CH) had athyreotic CH treated with l-T4 since the first days of life. The remaining 23 patients (age: 24±2.7, group AH) had hypothyroidism after total thyroidectomy (14 patients previously affected by nodular disease and nine by thyroid carcinoma with clinical and biochemical remission). Patient weight, serum free thyroid hormones, TSH, thyroglobulin (Tg), anti-Tg, and anti-thyroperoxidase antibodies were measured. Required l-T4 dosage was evaluated. At the time of the observations, all patients presented free thyroid hormones within the normal range and TSH between 0.8 and 2 µIU/ml. RESULTS: Patients had undetectable Tg and anti-thyroid antibodies. The daily weight-based dosage of the replacement therapy with l-T4 to reach euthyroidism in patients of group CH was significantly higher than that in those of group AH (2.16±0.36 vs 1.73±0.24 µg/kg, P<0.005). Patients of group CH treated with l-T4 had significantly higher serum TSH levels than patients of group AH (P=0.05) as well as higher FT4 concentrations. CONCLUSIONS: To correct hypothyroidism, patients of group CH required a daily l-T4 dose/kg higher than group AH patients, despite higher levels of TSH. The different requirement of replacement therapy between adult patients with congenital and those with surgical athyroidism could be explained by a lack of thyroid hormones since fetal life in CH, which could determine a different set point of the hypothalamus-pituitary-thyroid axis.


Assuntos
Hipotireoidismo Congênito/tratamento farmacológico , Terapia de Reposição Hormonal/métodos , Hipotireoidismo/tratamento farmacológico , Disgenesia da Tireoide/tratamento farmacológico , Síndrome da Resistência aos Hormônios Tireóideos/tratamento farmacológico , Tiroxina/uso terapêutico , Adolescente , Adulto , Hipotireoidismo Congênito/sangue , Hipotireoidismo Congênito/epidemiologia , Feminino , Terapia de Reposição Hormonal/estatística & dados numéricos , Humanos , Sistema Hipotálamo-Hipofisário/patologia , Hipotireoidismo/sangue , Hipotireoidismo/epidemiologia , Masculino , Disgenesia da Tireoide/sangue , Disgenesia da Tireoide/epidemiologia , Síndrome da Resistência aos Hormônios Tireóideos/sangue , Síndrome da Resistência aos Hormônios Tireóideos/epidemiologia , Hormônios Tireóideos/sangue , Tireoidectomia , Tiroxina/administração & dosagem , Tiroxina/sangue , Adulto Jovem
13.
BMC Endocr Disord ; 14: 69, 2014 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-25146893

RESUMO

BACKGROUND: Congenital hypothyroidism is often secondary to thyroid dysgenesis, including thyroid agenesis, hypoplasia, ectopic thyroid tissue or cysts. Loss of function mutations in TSHR, PAX8, NKX2.1, NKX2.5 and FOXE1 genes are responsible for some forms of inherited congenital hypothyroidism, with or without hypoplastic thyroid. The aim of this study was to analyse the PAX8 gene sequence in several members of the same family in order to understand whether the variable phenotypic expression, ranging from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism, could be associated to the genetic variant in the PAX8 gene, detected in the proband. METHODS: We screened a hypothyroid child with thyroid hypoplasia for mutations in PAX8, TSHR, NKX2.1, NKX2.5 and FOXE1 genes. We studied the inheritance of the new variant R133W detected in the PAX8 gene in the proband's family, and we looked for the same substitution in 115 Caucasian European subjects and in 26 hypothyroid children. Functional studies were performed to assess the in vitro effect of the newly identified PAX8 gene variant. RESULTS: A new heterozygous nucleotide substitution was detected in the PAX8 DNA-binding motif (c.397C/T, R133W) in the proband, affected by congenital hypothyroidism with thyroid hypoplasia, in his older sister, displaying a subclinical hypothyroidism associated with thyroid hypoplasia and thyroid nodules, in his father, affected by hypothyroidism with thyroid hypoplasia and thyroid nodules, and his first cousin as well, who revealed only a subclinical hypothyroidism. Functional studies of R133W-PAX8 in the HEK293 cells showed activation of the TG promoter comparable to the wild-type PAX8. CONCLUSIONS: In vitro data do not prove that R133W-PAX8 is directly involved in the development of the thyroid phenotypes reported for family members carrying the substitution. However, it is reasonable to conceive that, in the cases of transcriptions factors, such as Pax8, which establish several interactions in different protein complexes, genetic variants could have an impact in vivo.


Assuntos
Biomarcadores/metabolismo , Hipotireoidismo Congênito/genética , Hipotireoidismo/genética , Fatores de Transcrição Box Pareados/genética , Disgenesia da Tireoide/genética , Hipotireoidismo Congênito/patologia , Feminino , Seguimentos , Fatores de Transcrição Forkhead/genética , Células HEK293 , Proteína Homeobox Nkx-2.5 , Proteínas de Homeodomínio/genética , Humanos , Hipotireoidismo/patologia , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Proteínas Nucleares/genética , Fator de Transcrição PAX8 , Linhagem , Prognóstico , Regiões Promotoras Genéticas/genética , Receptores da Tireotropina/genética , Disgenesia da Tireoide/patologia , Fator Nuclear 1 de Tireoide , Fatores de Transcrição/genética
14.
Best Pract Res Clin Endocrinol Metab ; 28(4): 577-88, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25047207

RESUMO

Iodine is essential for the synthesis of thyroid hormones. Iodine deficiency can affect human health in different ways, and is commonly referred to as iodine deficiency disorders (IDD). These range from defective development of the central nervous system during the fetal-neonatal life, to goitre in the adult. Only a few countries were completely iodine sufficient before 1990. Since then, a major effort has been made to introduce salt iodization to ensure sufficient intake of iodine in deficient areas. Iodine prophylaxis has been shown to exert a pivotal role in abating goitre and other iodine-deficiency disorders, and has also been shown to modulate the pattern of thyroid diseases. An increased frequency of thyroid autoimmunity and of hypothyroidism has been observed after introducing iodization programmes. Nevertheless, available evidence clearly confirms that the benefits of correcting iodine deficiency, consisting mainly of reducing nodular goitre and non-autoimmune hyperthyroidism, far outweigh the risks of iodine supplementation.


Assuntos
Bócio Nodular/epidemiologia , Iodo/administração & dosagem , Cloreto de Sódio na Dieta/administração & dosagem , Planos Governamentais de Saúde , Adulto , Suplementos Nutricionais , Feminino , Bócio Nodular/prevenção & controle , Humanos , Recém-Nascido , Iodo/deficiência , Iodo/metabolismo , Fenômenos Fisiológicos da Nutrição , Gravidez , Planos Governamentais de Saúde/organização & administração
15.
J Clin Endocrinol Metab ; 99(10): 3700-7, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24708101

RESUMO

CONTEXT: Clinical management of patients with thyroid nodules indeterminate at fine-needle aspiration (FNA) cytology is still unsettled. OBJECTIVE: Our objective was to establish the clinical outcome of patients with thyroid nodules indeterminate at cytology and to identify the features associated with malignancy. DESIGN AND PATIENTS: This was a retrospective evaluation of 1520 consecutive patients with indeterminate cytology among 100 065 patients who underwent FNA between January 2000 and December 2010. RESULTS: Of 1520 patients, 371 (24.4 %) had thyroid cancer at histology, the follicular variant of papillary cancer being the most frequent histotype, and 342 patients with cancer were free of disease after thyroidectomy and (131)I remnant ablation, whereas 29 needed further treatment because of persistent disease. Among them, only 12 had persistence of disease at the end of follow-up. Atypias at cytology (P = .001), blurred nodule margins (P = .005), and spot microcalcifications (P = .003) at thyroid ultrasound (US) were significantly associated with malignancy. A clinical score including cytology and US characteristics was calculated; the lowest value showed a high negative predictive value (83.9%) for the presence of malignancy and even higher (99.5%) for the presence of a more cumbersome cancer disease, and only 4 of the 29 patients who needed further treatment were included in the group with the lowest risk score. CONCLUSIONS: Patients with Thy 3 cytology and histology of thyroid cancer had an overall good prognosis. A clinical risk score including the results of cytology and US features is helpful in the management of patients with indeterminate thyroid nodules.


Assuntos
Carcinoma Papilar, Variante Folicular/epidemiologia , Carcinoma Papilar, Variante Folicular/patologia , Neoplasias da Glândula Tireoide/epidemiologia , Neoplasias da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/epidemiologia , Nódulo da Glândula Tireoide/patologia , Adolescente , Adulto , Idoso , Biópsia por Agulha Fina , Carcinoma Papilar, Variante Folicular/cirurgia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Invasividade Neoplásica , Valor Preditivo dos Testes , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Neoplasias da Glândula Tireoide/cirurgia , Nódulo da Glândula Tireoide/cirurgia , Tireoidectomia , Adulto Jovem
16.
Endocr Pract ; 20(1): e11-3, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24014002

RESUMO

OBJECTIVE: Thyroid function and gonadal axis are related throughout a woman's fertile period. Modifications of thyroid hormone levels have been reported as a consequence of controlled ovarian stimulation for infertility. METHODS: A 28-year-old woman with regular menses and previous evidence of euthyroidism underwent controlled ovarian hyperstimulation (COH) for assisted reproductive technology (ART). Free thyroxine (FT4), free triiodothyronine (FT3), thyroid-stimulating hormone (TSH), and autoantibodies against thyroperoxidase and thyroglobulin (TPOAb and TgAb, respectively) were measured before COH. FT4, FT3, and TSH were re-evaluated 6 days, 2 weeks (during oocyte retrieval), and 1 month after the beginning of the procedure. RESULTS: The baseline evaluation revealed subclinical autoimmune hypothyroidism. The patient was hypothyroidic at 6 days and 2 weeks and spontaneously returned to euthyroidism 1 month after COH. CONCLUSION: This is the first case of a woman with an unknown subclinical autoimmune hypothyroidism who developed overt and transient hypothyroidism as a consequence of COH. Careful thyroid evaluation is advised for women undergoing COH.

17.
BMC Surg ; 13 Suppl 2: S44, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24267151

RESUMO

BACKGROUND: Anaplastic thyroid cancer (ATC) is a rare, lethal disease associated with a median survival of 6 months despite the best multidisciplinary care. Surgical resection is not curative in ATC patients, being often a palliative procedure. Multidisciplinary care may include surgery, loco-regional radiotherapy, and systemic therapy. Besides conventional chemotherapy, multi kinase-targeted inhibitors are emerging as novel therapeutic tools. The numerous molecular alteration detected in ATC are targets for these inhibitors. The aim of this review is to determine the prevalence of the major genetic alterations occurring in ATC and place the results in the context of the emerging kinase-targeted therapies. METHODS: The study is based on published PubMed studies addressing the prevalence of BRAF, RAS, PTEN, PI3KCA and TP53 mutations and RET rearrangements in ATC. RESULTS: 21 articles dealing with 652 genetic analyses of the selected genes were used. The overall prevalence determined were the following: RET/PTC, 4%; BRAF, 23%; RAS, 60%; PTEN, 16%; PI3KCA, 24%; TP53, 48%. Genetic alterations are sometimes overlapping. CONCLUSIONS: Mutations of BRAF, PTEN and PI3KCA genes are common in ATC, with RAS and TP53 being the most frequent. Given ATC genetic complexity, effective therapies may benefit from individualized therapeutic regimens in a multidisciplinary approach.


Assuntos
Mutação , Neoplasias da Glândula Tireoide/genética , Humanos , Carcinoma Anaplásico da Tireoide , Neoplasias da Glândula Tireoide/tratamento farmacológico
18.
BMC Surg ; 13 Suppl 2: S37, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24267957

RESUMO

BACKGROUND: Thyroid cancer is a rare disease characterized by the subtle appearance of a nodule. Fine-needle cytology (FNC) is the first diagnostic procedure used to distinguish a benign from a malignant nodule. However, FNC yields inconclusive results in about 20% of cases. BRAF(V600E) mutation is the most frequent genetic alteration in papillary thyroid carcinoma (PTC); its high prevalence makes this oncogene a useful marker to refine inconclusive FNC results. However, the prevalence of the BRAF(V600E) mutation depends on detection methods, geographical factors, and age. The aim of this study is to determine the prevalence of BRAF(V600E) mutation and its utility as a diagnostic tool in elderly subjects. METHODS: FNC from 92 PTC patients were subjected to the analysis of BRAF mutation by pyrosequencing and direct sequencing; age-dependent prevalence was also determined. RESULTS: BRAF mutation analysis was successful in all FNC specimens. BRAF(V600E) was documented in 62 (67.4%) and in 58 (63.0%) PTCs by pyrosequencing and direct sequencing, respectively. BRAF(V600E) prevalence did not correlate with patient's age at diagnosis. Twenty out of 32 PTCs (62.5%) were correctly diagnosed by BRAF mutation analysis in inconclusive FNC results. CONCLUSIONS: Detection of BRAF(V600E) in cytology specimens by pyrosequencing is a useful diagnostic adjunctive tool in the evaluation of thyroid nodules also in elderly subjects.


Assuntos
Carcinoma/diagnóstico , Carcinoma/genética , Mutação , Proteínas Proto-Oncogênicas B-raf/genética , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/genética , Nódulo da Glândula Tireoide/diagnóstico , Nódulo da Glândula Tireoide/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma Papilar , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Câncer Papilífero da Tireoide , Adulto Jovem
19.
J Clin Endocrinol Metab ; 98(11): E1768-74, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24064687

RESUMO

CONTEXT: The mechanisms linking thyroid autoimmunity and iodine use in humans are unknown. OBJECTIVE: Our aim was to correlate iodine intake, thyroid autoimmunity, and recognition of thyroglobulin (Tg) epitopes after implementation of iodine prophylaxis. SETTING: The general community living in an Italian village was evaluated. MAIN OUTCOME MEASURES: Thyroglobulin autoantibodies (TgAb), thyroperoxidase autoantibodies (TPOAb), and urinary iodine excretion were assessed in 906 iodized salt users (IS-users) and 389 nonusers (IS-nonusers). Ultrasound (US) was performed to identify thyroid hypoechogenicity, suggestive of Hashimoto thyroiditis (HT). TgAb epitope pattern in 16 IS-users and 17 IS-nonusers was evaluated by an inhibition binding assay to Tg, using human monoclonal TgAb-Fab directed to A, B, C, and D epitopes on Tg. RESULTS: Median urinary iodine excretion was slightly higher in IS-users than in IS-nonusers (112.0 µg/L vs 86.5 µg/L; P < .01). TgAb, and not TPOAb, was more frequent in IS-users (18.9% vs 13.6%, P = .02). HT-US was found in 87 subjects, among whom both positive TgAb (58.4% vs 31.8%, P = .03) and TPOAb (61.5% vs 45.4%. P = .04) were more frequent in IS-users. In this group significantly higher serum levels of TgAb (median 108 U/mL vs 30 U/mL; P = .02), but not of TPOAb, were present. Iodized salt use had no effect on the 1208 non HT-US subjects. TgAb directed to the epitope B of Tg were more frequent in IS-users than in IS-nonusers (27.5% vs 3.0%, P = .047). CONCLUSIONS: Iodine-induced thyroid autoimmunity is related to TgAb and the unmasking of a cryptic epitope on Tg contributes to this relationship in humans.


Assuntos
Epitopos/imunologia , Doença de Hashimoto/imunologia , Hipotireoidismo/imunologia , Iodo/administração & dosagem , Cloreto de Sódio na Dieta/administração & dosagem , Tireoglobulina/imunologia , Tireoidite Autoimune/imunologia , Adulto , Anticorpos Monoclonais/imunologia , Autoanticorpos/sangue , Feminino , Doença de Hashimoto/diagnóstico por imagem , Doença de Hashimoto/dietoterapia , Humanos , Hipotireoidismo/diagnóstico por imagem , Hipotireoidismo/dietoterapia , Iodeto Peroxidase/imunologia , Iodo/urina , Itália , Masculino , Pessoa de Meia-Idade , Cloreto de Sódio na Dieta/urina , Tireoidite Autoimune/diagnóstico por imagem , Tireoidite Autoimune/dietoterapia , Ultrassonografia
20.
Infez Med ; 21(3): 224-8, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24008857

RESUMO

Hashimoto's thyroiditis is the most frequent autoimmune disease with genetic and environmental aetiologies. Viral infections have been postulated as one of the factors that may trigger autoimmune diseases. Many studies suggest that Herpes simplex virus infections are involved in a variety of autoimmune diseases. We report the case of three patients presenting for the first time herpes labialis a few months before the onset of hashitoxicosis. Serological and clinical exams support the possible role of human herpes viruses in the aetiology of Hashimoto's thyroiditis.


Assuntos
Biomarcadores/sangue , Doença de Hashimoto/diagnóstico , Doença de Hashimoto/virologia , Herpes Labial/complicações , Simplexvirus/isolamento & purificação , Adulto , Diabetes Mellitus Tipo 2/complicações , Feminino , Doença de Hashimoto/sangue , Humanos , Imunoglobulina G/sangue , Imunoglobulina M/sangue , Pessoa de Meia-Idade , Fatores de Risco , Tireotropina/sangue , Tiroxina/sangue , Tri-Iodotironina/sangue
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