Long-term follow-up of an 8-year-old boy with insulinoma as the first manifestation of a familial form of multiple endocrine neoplasia type 1

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary cancer syndrome characterized mostly by parathyroid, enteropancreatic, and anterior pituitary tumors. We present a case of an 8-year-old boy referred because of hypoglycemic attacks. His diagnosis was pancreatic insulinoma. Paternal grandmother died due to repeated gastroduodenal ulcerations and a paternal aunt presented similar manifestations. At a first evaluation, the father presented only gastric ulceration but subsequently developed hyperparathyroidism and lung carcinoid tumor. During almost 15 years of follow-up, three brothers and the index case presented hyperparathyroidism and hyperprolactinemia. Molecular study showed a G to A substitution in intron 4, at nine nucleotides upstream of the splicing acceptor site, causing a splicing mutation. All affected members of the family have the same mutation. Paternal grandmother and aunt were not studied and the mother does not carry any mutation. MEN1 is a rare condition that requires permanent medical assistance. Early clinical and genetic identification of affected individuals is essential for their own surveillance and also for genetic counseling.

Indicações para ceratoplastia penetrante no Hospital das Clínicas-UNICAMP

PURPOSE: To determine the main causes of penetrating keratoplasty indications at Hospital das Clínicas-UNICAMP (January, 1999 to December, 2003). METHODS: A non-comparative, retrospective series of case studies. The authors reviewed the files of 857 patients who underwent penetrating keratoplasty at Hospital das Clínicas-UNICAMP between 1999-2003 and classified them into different categories according to diagnostic indication for surgery. RESULTS: The age range was between 0-88 years (average 44 years ±1.2). The main causes of penetrating keratoplasty were: keratoconus in 427 cases (49.82%); 152 cases (17.74%) of corneal ulceration (perforated or not); corneal graft failure in 87 cases (10.15%); bullous keratopathy, 72 cases (8.40%); Fuchs dystrophy in 59 cases (6.88%); trachoma complications in 28 cases (3.27%); other causes, 32 (3.74%). In children under 10 years of age, the main cause of penetrating keratoplasty indications was infectious ulcer (77.78%) and between 11-50 years of age, keratoconus was the main cause (71.65%). CONCLUSION: This study was composed of a young population, and the main causes of penetrating keratoplasty were keratoconus and therapeutic keratoplasty.

Estudo do esvaziamento gástrico e da distribuição intragástrica de uma dieta sólida através da cintilografia: diferenças entre os sexos

Gender-related differences in gastric emptying are still controversial. The aims of this study were: to confirm the sex-related difference in gastric emptying of a solid meal and to investigate its association with different patterns of meal distribution between the proximal and distal gastric compartments. Eighteen healthy volunteers (nine males, mean age 35 ± 9 years; nine females, mean age: 41 ± 11 years) were studied in the morning, after ingestion of the solid test-meal (an omelette labeled with 185MBq of 99mTc-sulfur colloid). Simultaneous anterior and posterior images of the stomach were acquired immediately after ingestion of the meal and every 10 minutes for 120 minutes. Time versus activity curves were obtained for the whole, proximal and distal stomach. Gastric T½ was longer in women (96.1 ± 17.2 min) than in men (79.9 ± 17.8 min; P = 0.02). The analysis of the meal distribution inside the stomach showed no differences between males and females in proximal gastric emptying, but the meal retention in the distal compartment was significantly increased among women (P = 0.04). In conclusion, gastric emptying of a solid meal is slower in pre-menopausal women than in age-matched men, probably due to an increased retention of the meal in the distal compartment. This should be taken into consideration to avoid misleading diagnosis of gastroparesis for female patients.