Thyroid Diseases: Carrilho F

Rodrigues F, Limbert E, Marques AP, Santos AP, Lopes C, Rodrigues E, Borges F, Carrilho F, Castro JJ, Neto J, Salgado L, Oliveira MJ, Anonymous00295. · No affiliation provided · Acta Med Port. · Pubmed #16202330 links to  free full text

Abstract: Differentiated thyroid carcinoma of follicular origin (DTCFO), although not very frequent, has registered a raising incidence in the last decades. In the majority of the cases, DTCFO is a curable disease when treated and monitored by experienced, multidisciplinary teams. These factors contribute to an increasing number of DTCFO survivors requiring life-long monitoring, due to the possibility of occurrence of recurrences many years after the initial treatment. Several aspects of the treatment and management of these patients are still controversial. The present protocol represents the consensus of the members of the Grupo de Estudo da Tiróide of the Sociedade Portuguesa de Endocrinologia, Diabetes e Metabolismo. It aims to define guidelines, in agreement with the current state of the art and contemplating the necessary adaptations to local constrains, that ensure decreased mortality and protection of patients' quality of life, avoiding unnecessarily aggressive or ineffective treatments, optimizing the use of the available resources.

Lemos MC, Coutinho E, Gomes L, Carrilho F, Rodrigues F, Regateiro FJ, Carvalheiro M. · Health Sciences Research Centre (CICS), Faculty of Health Sciences, University of Beira Interior, 6200-506 Covilhã, Portugal. · J Endocrinol Invest. · Pubmed #18591888 No free full text.

Abstract: Individual susceptibility to cancer is influenced by polymorphisms of genes encoding drug-metabolizing enzymes such as the glutathione S-transferases (GST). The null polymorphisms of the GSTM1 and GSTT1 genes have been associated to a modified risk of several cancers but studies of thyroid cancer have produced conflicting results. The aim of this study was to investigate the relationship between these polymorphisms and the risk of papillary thyroid cancer (PTC). A total of 188 patients with PTC and 247 controls were genotyped using a PCR-based assay. Odds ratios (OR) and 95% confidence intervals (CI) for each homozygous null genotype were determined. The frequency of each of the GSTM1 and GSTT1 null genotypes did not differ significantly between patients and controls (OR=0.83, 95%CI: 0.56-1.21; p=0.328; and OR=0.66, 95%CI: 0.39-1.12; p=0.123, respectively), but the frequency of individuals that had the combined GSTM1 null/GSTT1 null genotypes was significantly lower in the patient group (OR=0.50, 95%CI: 0.26-0.97; p=0.040). The GSTM1 null genotype was associated with a lower risk of advanced cancer stages (III/IV) (OR=0.50, 95%CI: 0.26-0.96; p=0.036) and the GSTT1 null genotype was associated with a lower risk of the follicular variant of PTC (OR=0.31, 95%CI: 0.10-0.97; p=0.044). These results suggest that GSTM1 and GSTT1 null genotypes are weak, yet possible, modifiers of the risk of PTC. This protective effect may be due to a role of the GSTM1 and GSTT1 encoded enzymes in the metabolic activation of putative thyroid carcinogens or in other pathways involved in thyroid carcinogenesis.

Lemos MC, Carrilho F, Rodrigues F, Coutinho E, Gomes L, Carvalheiro M, Regateiro FJ. · Centro de Investigação em Ciências da Saúde (CICS), Faculdade de Ciências da Saúde, Universidade da Beira Interior, 6200-506 Covilhã, Portugal. · Clin Endocrinol (Oxf). · Pubmed #17547692 No free full text.

Abstract: OBJECTIVE: Xenobiotic-metabolizing enzymes are widely polymorphic and confer interindividual variation in the ability to detoxify carcinogens or to activate pro-carcinogens. A common polymorphism of cytochrome P450 2D6 (CYP2D6) results in lack of enzyme activity and has been associated with an altered susceptibility to several cancers. The aim of this study was to investigate the association between the CYP2D6 poor metaboliser genotype and the risk of papillary thyroid cancer (PTC). DESIGN: Retrospective case-control study. PATIENTS: One hundred and eighty-seven patients with PTC and 256 controls. MEASUREMENTS: Genotyping was performed by PCR and restriction enzyme analysis to detect the presence of the common CYP2D6*4 poor metaboliser allele. RESULTS: The frequency of individuals with the homozygous poor metaboliser genotype was lower in the patient group [1.6 vs. 5.5%, P = 0.037, OR = 0.28 (95% CI 0.09-0.93)]. The CYP2D6*4 allele frequency was also lower in the patient group [13.4 vs. 21.7%, P = 0.002, OR = 0.56 (95% CI 0.39-0.80)]. CONCLUSIONS: The results suggest that the poor metaboliser genotype is associated with a protective effect against PTC. This could be explained by a possible role of CYP2D6 on the metabolic activation of putative environmental chemical thyroid carcinogens or by linkage to another cancer-causing gene. Further research may allow the identification of metabolic risk factors and contribute towards understanding the molecular mechanisms involved in thyroid carcinogenesis.

Martins T, Carrilho F, Gomes L, Mesquita C, Martins MJ, Carvalheiro M. · Department of Endocrinology, Hospitais da Universidade de Coimbra, Praceta Mota Pinto, Coimbra, Portugal. · Thyroid. · Pubmed #17199442 No free full text.

Abstract: Teratomas in the neck are rare neoplasms. Most of them occur in infants less than 1 year and are benign. In contrast, thyroid teratomas in adults are malignant and have fatal outcomes because of spread of tumor refractory to treatment. We report a case of a primary thyroid malignant teratoma in a 37-year-old woman. She was treated successfully with a combination of surgery, postoperative cis-platinum-based chemotherapy, and radiation therapy to the neck. Although the time of follow-up is short (24 months), we attribute her successful outcome to the use of this intensive therapeutic approach.

Vilar H, Carrilho F, Borges F, Limbert E, Rodrigues F, Oliveira MJ, Castro JJ, Anonymous00115. · Sociedade Portuguesa de Endocrinologia, Diabetes e Metabolismo. · Acta Med Port. · Pubmed #16684479 links to  free full text

Abstract: INTRODUCTION: The best diagnostic and treatment strategy for an approach to the nodular thyroid disease continues to be a controversial issue. OBJECTIVES: The aim of this study was to characterise medical practice in the diagnosis and treatment of nodular thyroid disease by endocrinologists and surgeons in Portugal in 2002. METHODS: A questionnaire based on that used by the European Thyroid Association and the American Thyroid Association was drawn up. The questionnaire, based on a well-defined index case, was circulated by the Portuguese Endocrinology Society to endocrinologists and surgeons: 42 year-old woman with solitary thyroid nodule measuring 2 x 3 cm, with no history of malfunction or painful symptoms. Each doctor was asked to reply as to the adopted diagnosis and therapy procedures for the index case. Eleven variations to the original case were proposed in order to evaluate the alterations for each variation. RESULTS: 1492 questionnaires were sent out, 163 to endocrinologists and 1329 to surgeons. A total of 104 were returned. The global response rate was 7%. The response rate for endocrinologists was 27% and 4.5% for surgeons. Of the 104 questionnaires returned, 42% were from endocrinologists and 58% from surgeons. Concerning tests prescribed, surgeons would use more tests than endocrinologists for the index case. The main differences in laboratory terms were the higher number of prescriptions for total T4 and T3 and thyroglobulin by surgeons and more prescriptions for AATPO by endocrinologists. The average number of tests was 4.6, 4.1 for endocrinologists and 5.1 for surgeons. Relative to imaging and cytology, 32% of doctors advocated a scintigraphy to diagnose the index case, with no significant differences between endocrinologists and surgeons. Ultrasonography was used by over 85% of respondents. 90% prescribed a cytology, 83% guided by palpation and 18% ultrasonography-guided. Concerning treatment, 33% of doctors advocated levothyroxin treatment; surgery was advocated by 16.3% of endocrinologists and 36.6% of surgeons. Meanwhile, the majority of doctors (68%) would opt for no treatment and simply maintain the patient under surveillance. CONCLUSIONS: There are important differences in the approach to nodular thyroid disease among the various doctors and specialists, which highlight the difficulty in achieving a diagnostic and therapeutic consensus.

Martins TD, Carrilho F, Leitão P, Lemos MC, Campos MV, Geraldes E, Carvalheiro M. · Serviço de Endocrinologia Diabetes e Metabolismo, Hospitais da Universidade de Coimbra, Coimbra. · Acta Med Port. · Pubmed #16197840 links to  free full text

Abstract: Anaplastic thyroid tumor is a rare tumor and constitutes 5 to 10% of thyroid carcinomas. Is one of the most aggressive solid tumors and the prognosis is always fatal with a mean survival of 3 to 7 months. The current therapeutics are scarce and inefficacious. A retrospective analysis was performed in 12 clinical cases of anaplastic thyroid tumor observed at the Department of Endocrinology, Diabetes and Metabolism of the University Hospital of Coimbra. We analysed data relative to sex, previous thyroid pathology, clinical signs and symptoms, date of diagnosis, treatment and outcome. In this series, the anaplastic thyroid carcinoma showed to be a highly malignant tumor with a mortality rate of 100% with a survival after the diagnosis between 15 days and 9 months.

Carrilho F. · Serviço de Endocrinologia, Diabetes e Metabolismo, Hospitais da Universidade de Coimbra, Coimbra. · Acta Med Port. · Pubmed #14750285 No free full text.

Abstract: The author refers Graves' disease as the second most common cause of post-partum thyroid dysfunction. It is more common a long term persistence of hyperthyroidism but a transitory hyperthyroidism can be also possible. The disease hypothalamus/hypophysis can also be responsible for the post-partum thyroid dysfunction, even though it is extremely rare. The auto-immunity of hypophysis plus Sheehan syndrome are two main reasons for hypothyroidism, associated with other hypophysis hormones production deficit.

Paiva S, Bastos M, Gomes L, Durão A, Moreira A, Barros L, Rodrigues D, Ruas L, Ribeiro C, Rodrigues F, Paiva I, Fagulha A, Carrilho F, Geraldes E, Carvalheiro M, Ruas MM. · Serviço de Endocrinologia, Diabetes e Metabolismo, Hospitais da Universidade de Coimbra, Coimbra. · Acta Med Port. · Pubmed #12525025 No free full text.

Abstract: We review the pathophysiology, clinical features and therapy of acute thyroiditis. Four cases are reported stressing the role of fine needle aspiration for the diagnosis of this clinical entity.

Lemos MC, Carrilho F, Rodrigues FJ, Santos P, Carvalheiro M, Ruas MA, Regateiro FJ. · Serviço de Endocrinologia, Diabetes e Metabolismo, Hospitais da Universidade de Coimbra, Coimbra, Portugal. · Endocr Pract. · Pubmed #11939755 No free full text.

Abstract: OBJECTIVE: To describe the molecular characterization of a kindred affected by the rare variant of multiple endocrine neoplasia type IIA (MEN IIA) associated with cutaneous lichen amyloidosis and to discuss the clinical implications in the management of this syndrome. METHODS: A kindred with four affected family members was identified, and DNA analysis was performed by sequencing exon 11 of the RET proto-oncogene. Presymptomatic genetic screening was offered to all first-degree relatives. RESULTS: Sequencing analysis of the RET proto-oncogene revealed a Cys634Trp (TGC->TGG) mutation in all clinically affected family members and in an asymptomatic 5-year-old child who, after thyroidectomy, was found to have multicentric medullary thyroid carcinoma and C-cell hyperplasia. A Gly691Ser (GGT->AGT) polymorphism was also detected in this family but did not segregate with the disease. CONCLUSION: To our knowledge, this is the earliest detection of medullary thyroid carcinoma reported thus far in a kindred with MEN IIA associated with cutaneous lichen amyloidosis, and this finding suggests that prophylactic thyroidectomy, in kindreds with this variant, should be performed before the age of 5 years.