Biomedical subjects

Francisco Carrilho

Publications and source records attributed to Francisco Carrilho.

7 recordsLinked to original sources

PubMed2006

[Diagnosis and treatment of solitary thyroid nodule--study and evaluation in Portugal].

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.

Endocrinology↗

PubMed2006

[Friedreich ataxia and diabetes mellitus--family study].

Friedreich's ataxia (FA) is one of the genetic syndromes sometimes associated with diabetes and the most common hereditary ataxia. It is a autosomal recessive neurodegenerative disease, caused by a mutation in the FRDA gene, which originates decreased expression of frataxin, a mitochondrial protein involved in iron metabolism. The disorder is usually manifest in childhood and is characterised by ataxia, dysarthria, scoliosis and feet deformity. About two thirds of patients have hypertrophic cardiomyopathy, 10% have diabetes and 20% have another glucose homeostasis disorder. Both insulin resistance and beta-cell dysfunction are implicated in this patients' diabetes pathophysiology. The mean half-life is 35 years. Cause of death is usually related to cardiomyopathy or diabetes' complications. We report the case study of two twin sisters with 28 years old, in whom FA was diagnosed in the first decade, both of them with diabetes since their early twenties. A third sister with FA is reported, with no glucose homeostasis disorder. They also have two healthy male brothers. Based in this cases, the FA associated diabetes pathophysiology is discussed, concerning the therapeutic approach to these patients and to their diabetic relatives without neurologic symptoms. The role of molecular genetic testing and genetic counselling are also debated.

Adult↗

PubMed2006

Malignant teratoma of the thyroid: case report.

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.

Adult↗

PubMed2005

[Treatment and follow up protocol in differentiated thyroid carcinomas of follicular origin].

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.

Clinical Protocols↗

PubMed2004

[Anaplastic thyroid tumor: retrospective analysis of 12 cases].

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.

Aged↗

PubMedDate not supplied

Early onset of medullary thyroid carcinoma in a kindred with multiple endocrine neoplasia type iia associated with cutaneous lichen amyloidosis.

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.

Adult↗

PubMedDate not supplied

[Other postpartum thyroid dysfunctions].

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.

Female↗