ABSTRACT Objective: Initial diagnosis of medullary thyroid carcinoma (MTC) is frequently associated with advanced stages and a poor prognosis. Thus, the need for earlier diagnoses and detection in relatives at risk for the disease has led to increased use of RET genetic screening. Subjects and methods: We performed RET screening in 247 subjects who were referred to the Brazilian Research Consortium for Multiple Endocrine Neoplasia (BRASMEN) Center in the State of Ceará. Direct genetic sequencing was used to analyze exons 8, 10, 11, and 13-16 in MTC index cases and specific exons in at risk relatives. Afterward, clinical follow-up was offered to all the patients with MTC and their affected relatives. Results: RET screening was performed in 60 MTC index patients and 187 at-risk family members. At the initial clinical assessment of the index patients, 54 (90%) were diagnosed with apparently sporadic disease and 6 (10%) diagnosed with hereditary disease. After RET screening, we found that 31 (52%) index patients had sporadic disease, and 29 (48%) had hereditary disease. Regarding at-risk relatives, 73/187 were mutation carriers. Mutations in RET codon 804 and the rare p.M918V mutation were the most prevalent. Conclusions: Performing RET screening in Ceará allowed us to identify a different mutation profile in this region compared with other areas. RET screening also enabled the diagnosis of a significant number of hereditary MTC patients who were initially classified as sporadic disease patients and benefited their relatives, who were unaware of the risks and the consequences of bearing a RET mutation.

The present study was carried out at the Army Central Hospital, Rio de Janeiro, Brazil, from September 2000 to December 2001, employing diethylenetriamine penta-acetic acid labeled with technetium-99m (99mTc-DTPA) to evaluate the renal function of nineteen symptomatic patients infected with S. haematobium during a peace mission in Mozambique. Results evidenced that the most frequent clinical manifestations were hematuria (68.4%) and low back pain (68.4%) and 73.7% patients had altered dynamic renal scintigraphy expressed by an increase in the excretory phase independently of the symptoms duration; furthermore, none of them had mechanical obstructive pattern. Schistosoma haematobium glomerulopathy could be considered a pathological finding without correlation with the disease clinical manifestations.