20 documents found, page 1 of 2
Neurofibromatoses: part 1 ? diagnosis and differential diagnosis
Rodrigues,Luiz Oswaldo Carneiro; Batista,Pollyanna Barros; Goloni-Bertollo,Eny Maria; Souza-Costa,Danielle de; Eliam,Lucas; Eliam,MiguelNeurofibromatoses (NF) are a group of genetic multiple tumor growing predisposition diseases: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH), which have in common the neural origin of tumors and cutaneous signs. They affect nearly 80 thousand of Brazilians. In recent years, the increased scientific knowledge on NF has allowed better clinical management and reduced compl...
Clinical and epidemiological evaluation of patients with sporadic colorectal ca...
Fernandes,Glaucia Maria de Mendonça; Leme,Cássia Veridiana Dourado; Ruiz-Cintra,Mariângela Torreglosa; Pavarino,Érika Cristina; Netinho,João GomesBackground:This study aims to perform a survey on clinical data, sociodemographic and risk factors from patients with sporadic colorectal cancer (SCRC) treated between 2004 and 2008 in the Coloproctology Service of a teaching hospital in the North-western region of São Paulo.Methods:We analyzed 749 medical records. Of these, 460 were from colon cancer patients and 289 from rectal cancer patients. Most of the in...
Neurofibromatosis: chronological history and current issues
Antonio,Joao Roberto; Goloni-Bertollo,Eny Maria; Tridico,Livia ArroyoNeurofibromatosis, which was first described in 1882 by Von Recklinghausen, is a genetic disease characterized by a neuroectodermal abnormality and by clinical manifestations of systemic and progressive involvement which mainly affect the skin, nervous system, bones, eyes and possibly other organs. The disease may manifest in several ways and it can vary from individual to individual. Given the wealth of inform...
Clinical and epidemiological characteristics of patients in the head and neck s...
Ruback,Maurício José Cabral; Galbiatti,Ana Lívia; Arantes,Lidia Maria Rebolho Batista; Marucci,Gustavo Henrique; Russo,AneliseCONTEXT AND OBJECTIVES: Head and neck cancer is the fifth most common type of cancer worldwide. The objective of this study was to evaluate the clinical and epidemiological parameters in a head and neck surgery service. DESIGN AND SETTING: Cross-sectional study using patients' records, developed in otolaryngology and head and neck department of a university hospital in the northwest of the state of São Paulo. M...
Carcinogênese de cabeça e pescoço: impacto do polimorfismo MTHFD1 G1958A
Silva,Lidia Maria Rebolho Batista da; Silva,Jéssika Nunes Gomes da; Galbiatti,Ana Lívia Silva; Succi,Maysa; Ruiz,Mariangela TorreglosaOBJETIVO: Investigar o polimorfismo MTHFD1 G1958A envolvido no metabolismo do folato no risco para o câncer de cabeça e pescoço e verificar a associação entre esse polimorfismo com fatores de risco e características clínico-histopatológicas. MÉTODOS: Estudo retrospectivo que avaliou o polimorfismo MTHFD1 G1958A em 694 indivíduos (240 pacientes e 454 controles), por meio da técnica de análise de polimorfismo de ...
Análise dos genes GSTM1 e GSTT1 em pacientes com câncer de cabeça e pescoço
Leme,Cássia Veridiana Dourado; Raposo,Luis Sérgio; Ruiz,Mariangela Torreglosa; Biselli,Joice Matos; Galbiatti,Ana Lívia Silva; Maniglia,José VictorOBJETIVO: Estabelecer o perfil clínico e demográfico bem como identificar os fatores de risco entre os pacientes com câncer de cabeça e pescoço e relacioná-los ao polimorfismo dos genes GSTT1 e GSTM1. MÉTODOS: Foram estudados 100 pacientes com carcinoma espinocelular de cabeça e pescoço e 100 indivíduos sem história de neoplasia. A análise molecular foi realizada pela técnica de PCR multiplex. Para a análise es...
19-base pair deletion polymorphism of the dihydrofolate reductase (DHFR) gene: ...
Mendes,Cristiani Cortez; Biselli,Joice Matos; Zampieri,Bruna Lancia; Goloni-Bertollo,Eny Maria; Eberlin,Marcos Nogueira; Haddad,RenatoCONTEXT AND OBJECTIVE: Polymorphisms in genes involved in folate metabolism may modulate the maternal risk of Down syndrome (DS). This study evaluated the influence of a 19-base pair (bp) deletion polymorphism in intron-1 of the dihydrofolate reductase (DHFR) gene on the maternal risk of DS, and investigated the association between this polymorphism and variations in the concentrations of serum folate and plasm...
Homocisteína e polimorfismos dos genes MTHFR e VEGF: impacto na doença arterial...
Guerzoni,Alexandre Rodrigues; Biselli,Patrícia Matos; Godoy,Moacir Fernandes de; Souza,Doroteia Rossi Silva; Haddad,Renato; Eberlin,Marcos NogueiraFUNDAMENTO: Polimorfismos em genes relacionados ao desenvolvimento da aterosclerose, angiogênese e metabolismo da homocisteína (Hcy) podem ser fatores de risco para a doença arterial coronariana (DAC). OBJETIVO: Avaliar o efeito dos polimorfismos VEGF C-2578A e MTHFR C677T na DAC e a associação desses polimorfismos com a gravidade e a extensão das lesões ateroscleróticas e concentrações de Hcy. MÉTODOS: 244 ind...
Variabilidade genética MTHFR no desenvolvimento da doença arterial coronária
Biselli,Patrícia Matos; Guerzoni,Alexandre Rodrigues; Goloni-Bertollo,Eny Maria; Godoy,Moacir Fernandes de; Abou-Chahla,Juliana Aparecida BarcelosOBJETIVO: Concentração elevada de homocisteína (Hcy) é considerada um fator de risco para doença arterial coronária (DAC). Alterações genéticas da enzima metilenotetrahidrofolato redutase (MTHFR), envolvida no metabolismo da Hcy, podem reduzir sua termolabilidade contribuindo para o desenvolvimento de lesões ateroscleróticas. O objetivo deste estudo foi investigar a relação entre os polimorfismos MTHFR C677T e ...
Clinical profile of children with down syndrome treated in a genetics outpatien...
Pavarino Bertelli,Érika Cristina; Biselli,Joice Matos; Bonfim,Daiana; Goloni-Bertollo,Eny MariaOBJECTIVE: Considering that studies about the frequencies of phenotypic features of Down syndrome (DS) in the Brazilian population with large ethnic variability are scarce in literature, this study analyzed clinical and demographic characteristics of DS children from the Southeastern region of Brazil. METHODS: Sixty-two DS children with free trisomy 21 were evaluated by physical examination using reference valu...