Orolabial signs are important clues for diagnosis of the rare endocrine syndrome MEN 2B. Presentation of two unrelated cases

Multiple endocrine neoplasia syndromes (MEN) are genetic disorders with glandular hyperplasia and consecutive malignant neoplasia. MEN type 2B is the least common form of these tumor syndromes. It presents with typical dysmorphic features, mucosal neuromas, ganglioneuromatosis, medullary thyroid carcinoma (MTC) and phaeochromocytoma. The prognosis depends on the presence of MTC. We have surprisingly found two unrelated patients with this syndrome at our department within two weeks. In the medical history of a 17-year-old boy, Crohn's disease had been considered because of abdominal pain and distention. He had marfanoid appearance and previously undergone minor surgeries for a large tongue with neuromas and hypertrophic gums. Two weeks later, a 10-year-old girl presented with a hard palpable mass on her neck. She had thickened lips, neuromas on the tongue and a solitary thyroid nodule. Genetic analysis was carried out in both patients and a heterozygous M918T mutation of the RET proto-oncogene was found. Laboratory tests and imaging studies were consistent with MTC. Phaeochromocytoma was not present. Both patients underwent total thyroidectomy and lymph node dissection. Histological examination confirmed the diagnosis of MTC. In conclusion, the initial diagnosis of MEN 2B should be suspected on the presence of typical facial/oral signs and gastrointestinal symptoms. Hormonal tests and imaging techniques of the thyroid and the adrenals can confirm the clinical diagnosis of MEN 2B and genetic analysis can prove its germline origin

Mercury levels and health parameters in the threatened Olrog’s Gull (Larus atlanticus) from Argentina

Mercury (Hg) exposure was investigated through feathers of Olrog's Gull and related to health parameters in adults (hematocrit, total plasma proteins, morphometric measures, sex) and chicks (hematocrit, total plasma proteins, immunoglobulins G and M) from a colony located in estuary of Bahia Blanca, Argentina. Mercury concentrations were 5.50 +/- 2.59 mu g g (-aEuro parts per thousand 1) (n = 44) in live adults, 1.85 +/- 0.45 mu g g (-aEuro parts per thousand 1) (n = 45) in live chicks and 1.81 +/- 0.41 mu g g (-aEuro parts per thousand 1) (n = 41) in dead chicks. Large differences were observed between live adults and live or dead chicks and small differences between live and dead chicks. In the adults, the sex of the birds was the variable that best explained Hg concentrations. Male birds had higher concentrations than females; this suggests that the clutch provides a sink for mercury during egg laying. Hg concentrations in both adults and live chicks were associated with higher hematocrits. This could be associated with upregulated erythropoiesis to compensate for increased rate of destruction of prematurely senescent, Hg-contaminated erythrocytes. Based on our results, on the levels of Hg pollution in the past in the study area, and on the dietary specialization of Olrog's Gull, we must be vigilant about potential negative effects of Hg pollution on this population and recommend continued monitoring on this threatened species