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.

Avaliação dos tipos de glaucoma no serviço de oftalmologia da UNICAMP

PURPOSE: To evaluate the frequency of different types of glaucoma at the Hospital das Clínicas of Campinas State University. METHODS: Cross-sectional study of 329 patients followed at the Glaucoma Service of Campinas State University from October 1 to December 20, 2000. The frequency of each type of glaucoma and the treatment were analyzed. RESULTS: There were 329 patients examined at the Glaucoma Service: 132 (40.1%) were referred to the service as glaucoma suspects and 197 (59.9%) as glaucoma patients. Ninety of the 132 glaucoma suspects had glaucoma (68.2%) and 42 are still under investigation (31.8%). Among the 329 patients, 283 (86%) had glaucoma, 42 (12.8%) were glaucoma suspects, 2 (0.6%) had ocular hypertension and 2 (0.6%) did not have glaucoma. There were 530 eyes with glaucoma: 298 (56.2%) with primary open angle glaucoma, 108 (20.4%) with chronic angle closure glaucoma, 21 (4%) with glaucoma following cataract surgery, 19 (3.6%) congenital glaucoma and 16 (3%) with low-tension glaucoma. All patients received initial clinical treatment with IOP-lowering medication. After a mean follow up of 10.5 months, 89 (16.8%) underwent laser therapy: 72 (13.6%) iridotomy, 7 (1.3%) trabeculoplasty and 10 (1.9%) panphotocoagulation. A hundred and seventy nine (33%) eyes required surgical treatment. CONCLUSION: The most frequent types of glaucoma were primary open angle and angle closure glaucoma. Low tension glaucoma and glaucoma associated with exfoliation syndrome were uncommon in this population.

Neuronal ceroid-lipofuscinosis, a type of amaurotic family idiocy: clinical and pathological study of four cases

Neuronal ceroid-lipofuscinosis (NCL) is a recent term, proposed for acurate designation of the late-onset types of Amaurotic Family Idiocy (AFI). Histopathology shows ubiquitous intraneuronal accumulation of lipopigments, being the most important factor for characterization of the entity at present time. Biochemical changes and pathogenesis are obscure. NCL is in contrast to the infantile type of AFI (Tay-Sachs disease), in which intraneuronal accumulation of gangliosides (sphingolipids) is due to the well known deficiency of a lysosomal enzyme. The authors report on four cases of NCL, two brothers of the late infantile (Jansky-Bielschowsky) type and a brother and a sister of the juvenile (Spielmeyer-Sjögren) type. One autopsy and three cortical biopsies revealed moderate to severe distention of the neurons by lipopigment, with nerve cell loss, gliosis and cerebral atrophy. Lipopigment was also increased in liver, heart and spleen. The patients were the first in Brazilian literature in whom the storage material was identified as lipopigment by histochemical methods. A brief summary of the clinical features of NCL is presented, and relevant problems are discussed, concerning interpretation of the nature of the storage material, and significance of the disease for gerontological research.

Efeitos de diferentes protocolos de treinamento físico sobre o controle autonômico e cardiorrespiratório em homens de meia-idade

Universidade Estadual de Campinas . Faculdade de Educação Física

A eficacia e a heterocronia das respostas de adaptação de basquetebolistas submetidos a diferentes modelos de estruturação da carga de treinamento e competição

Universidade Estadual de Campinas . Faculdade de Educação Física

Analise das ações de jogos de voleibol e suas implicações para o treinamento tecnico-tatico da categoria infanto-juvenil feminina(16 e 17 anos)

Universidade Estadual de Campinas. Faculdade de Educação Física

Capacidade aerobia de futebolistas profissionais de altitude durante o periodo competitivo da cidade de Arequipa-Peru

Universidade Estadual de Campinas . Faculdade de Educação Física

Contribution Of Antepartum And Intrapartum Hemorrhage To The Burden Of Maternal Near Miss And Death In A National Surveillance Study

Objective To evaluate the occurrence of severe obstetric complications associated with antepartum and intrapartum hemorrhage among women from the Brazilian Network for Surveillance of Severe Maternal Morbidity.Design Multicenter cross-sectional study.Setting Twenty-seven obstetric referral units in Brazil between July 2009 and June 2010.Population A total of 9555 women categorized as having obstetric complications.Methods The occurrence of potentially life-threatening conditions, maternal near miss and maternal deaths associated with antepartum and intrapartum hemorrhage was evaluated. Sociodemographic and obstetric characteristics and the use of criteria for management of severe bleeding were also assessed in these women.Main outcome measures The prevalence ratios with their respective 95% confidence intervals adjusted for the cluster effect of the design, and multiple logistic regression analysis were performed to identify factors independently associated with the occurrence of severe maternal outcome.Results Antepartum and intrapartum hemorrhage occurred in only 8% (767) of women experiencing any type of obstetric complication. However, it was responsible for 18.2% (140) of maternal near miss and 10% (14) of maternal death cases. On multivariate analysis, maternal age and previous cesarean section were shown to be independently associated with an increased risk of severe maternal outcome (near miss or death).Conclusion Severe maternal outcome due to antepartum and intrapartum hemorrhage was highly prevalent among Brazilian women. Certain risk factors, maternal age and previous cesarean delivery in particular, were associated with the occurrence of bleeding.