Léa Maria Zanini Maciel | Universidade de São Paulo (original) (raw)

Papers by Léa Maria Zanini Maciel

Arquivos Brasileiros de Endocrinologia & Metabologia, 2014

Introdução O carcinoma medular de tireoide (CMT) origina-se das células parafoliculares da tireoi... more Introdução O carcinoma medular de tireoide (CMT) origina-se das células parafoliculares da tireoide e corresponde a 3-4% das neoplasias malignas da glândula. Aproximadamente 25% dos casos de CMT são hereditários e decorrentes de mutações ativadoras no proto-oncogene RET (REarranged during Transfection). O CMT é uma neoplasia de curso indolente, com taxas de sobrevida dependentes do estádio tumoral ao diagnóstico. Este artigo descreve diretrizes baseadas em evidências clínicas para o diagnóstico, tratamento e seguimento do CMT. Objetivo O presente consenso, elaborado por especialistas brasileiros e patrocinado pelo Departamento de Tireoide da Sociedade Brasileira de Endocrinologia e Metabologia, visa abordar o diagnóstico, tratamento e seguimento dos pacientes com CMT, de acordo com as evidências mais recentes da literatura. Materiais e métodos: Após estruturação das questões clínicas, foi realizada busca das evidências disponíveis na literatura, inicialmente na base de dados do MedL...

The Journal of Clinical Endocrinology and Metabolism, Nov 1, 1997

Follicular thyroid carcinoma (FTC) exhibits frequent loss of heterozygosity (LOH) on chromosomes ... more Follicular thyroid carcinoma (FTC) exhibits frequent loss of heterozygosity (LOH) on chromosomes 10q and 3p, suggesting involvement of tumor suppressor genes. We screened 14 FTC (10 Hurthle cell carcinomas and 4 nonoxyphilic FTC), 14 papillary thyroid carcinomas, and 7 follicular adenomas for LOH on chromosome arms 1p, 3p, 3q, 10p, 10q, 11p, 11q, 13q, 17p, and 17q. LOH was more frequent in FTC than in follicular adenoma or papillary thyroid carcinoma. In FTC, rates of LOH on 3p (86%), 17p (72%), and 10q (57%) were higher than the average rate of LOH (33%; P Ͻ 0.05). Most frequently involved were 3p21-25 and 17p13.1-13.3, the sites for the VHL (3p25

Cadernos De Saude Publica, 2008

Historical background According to a centuries-old European legend, children that tasted salty wh... more Historical background According to a centuries-old European legend, children that tasted salty when kissed on the forehead were considered "enchanted" or "bewitched" and would soon die. The first references to possible carriers of the disease appeared in the literature in the 16 th century, as autopsy reports. The first records of an autopsy performed on a "cursed" 11-year-old girl who presumably died of cystic fibrosis was performed in 1595 by Pieter Pauw, professor of Botany and Anatomy in Leiden, Netherlands, and included the first medical description of the related pancreatic lesions 1. In 1606, Alonso y de los Ruyzes de Fonteca, professor of medicine in Henares, Spain, reported that one's fingers tasted salty after rubbing the forehead of these supposedly bewitched children 1. Nearly three centuries later, in 1905, Landsteiner described meconium ileus, relating it to exocrine pancreatic insufficiency. Three decades later, Fanconi (1936) referred to the disease as cystic fibromatosis with bronchiectases and recognized it as a disease entity independent of celiac disease 1. At the same time, Dorothy Andersen, in 1938, described the disease in minute detail, with its clinical, anatomopathological, and epidemiological characteristics, referring to it as "cystic fibrosis of the pancreas" 1. In mid-1945, Farber believed that the cause of the disease was a generalized "state of thickening of secretions", thus coining the term mu

Arquivos Brasileiros De Endocrinologia E Metabologia, Oct 1, 2008

A gravidez está associada com a necessidade aumentada de secreção hormonal pela tireóide desde as... more A gravidez está associada com a necessidade aumentada de secreção hormonal pela tireóide desde as primeiras semanas após a concepção. Para que esta maior demanda ocorra, a gestação induz uma série de alterações fisiológicas que afetam a função tireoidiana e, portanto, os testes de avaliação da função glandular. Para as mulheres grávidas normais que vivem em áreas suficientes em iodo, este desafio em ajustar a liberação de hormônios tireoidianos para o novo estado de equilíbrio e manter até o término da gestação, geralmente, ocorre sem dificuldades. entretanto, em mulheres com a capacidade funcional da tireóide prejudicada por alguma doença tireoidiana ou naquelas que residem em áreas de insuficiência iódica, isso não ocorre. o manejo de disfunções tireoidianas durante a gestação requer considerações especiais, pois tanto o hipotireoidismo quanto o hipertireoidismo podem levar a complicações maternas e fetais. Além disso, nódulos tireoidianos são detectados, com certa freqüência, em gestantes, o que pode gerar a necessidade do diagnóstico diferencial entre benignos e malignos ainda durante a gestação.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2002

Arquivos Brasileiros De Endocrinologia E Metabologia, 2001

International braz j urol, 2003

Purpose: To investigate the prevalence of prostate carcinoma in a sample of volunteers known to h... more Purpose: To investigate the prevalence of prostate carcinoma in a sample of volunteers known to have a large proportion of Bantu African ancestors, and the performance of total PSA (tPSA), PSA density (PSAD) and free-to-total PSA ratio (f/tPSA) on the diagnosis. Materials and Methods: A total of 473 volunteers (range: 40-79 years) were screened for prostate carcinoma. Those with tPSA >2 ng/ml and/or abnormal digital rectal examination were submitted to a transrectal ultrasound-directed biopsy (10 cores). The volunteers were classified as White, Mulatto or Black according to physical characteristics and to ancestors race reference. The following variable number of tandem repeats (VNTR) were analyzed in the blood of 120 volunteers without cancer and in 27 patients with prostate cancer: D4S43, PAH, F13A1, APOB and vW-1. Results: The biopsies performed in 121 volunteers revealed cancer in 27 (5.7% of 473). The proportions of cancer in White, Mulatto and Black were respectively: 0.6% (1/148), 6.7% (6/90) and 8.5% (20/235) (p = 0.006). The VNTRs analysis revealed heterogeneity in White, Mulatto and Black anthropologic phenotypes with the following admixture of Caucasian, African and Amerindian gene lineages: 67.5

$Research paper thumbnail of Increased vertebral morphometric fracture in patients with postsurgical hypoparathyroidism despite normal bone mineral density$

BMC Endocrine Disorders, 2013

Background The mechanism behind parathyroid hormone (PTH) activation of bone remodeling is intima... more Background The mechanism behind parathyroid hormone (PTH) activation of bone remodeling is intimately dependent on the time of exposure of bone cells to hormone levels. Sustained high PTH levels trigger catabolism, while transitory elevations induce anabolism. The effects of hypoparathyroidism (PhPT) on bone are unknown. The objective was to study the impact of PhPT on bone mineral density (BMD), on the frequency of subclinical vertebral fracture and on mandible morphometry. Methods The study comprised thirty-three postmenopausal women, 17 controls (CG) and 16 with PhPT (PhPTG) matched for age, weight and height. Bone mineral density (BMD) of lumbar spine, total hip and 1/3 radius, radiographic evaluation of vertebral morphometry, panoramic radiography of the mandible, and biochemical evaluation of mineral metabolism and bone remodeling were evaluated in both groups. Results There were no significant differences in lumbar spine or total hip BMD between groups. There was marked heter...

Animal Genetics, 2009

Altogether 424 Norwegian AI bulls, progeny tested for clinical mastitis, ketosis and fertility (r... more Altogether 424 Norwegian AI bulls, progeny tested for clinical mastitis, ketosis and fertility (recorded as nonreturn percentage), were typed by Edinburgh and Oslo allo-antisera to bovine lymphocyte antigens (BoLA-A) over a 7-year period. Significant effects of BoLA-A on disease were revealed. A2 was associated with relative resistance to mastitis, a positive influence on fertility, and a possible relative resistance to ketosis, while A13 was associated with relative resistance to ketosis. The previously reported associations of A11 and w16 with relative susceptibility to mastitis were not confirmed in the present material.

Endocrine Connections, 2019

Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant genetic disease caused by RET... more Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant genetic disease caused by RET gene germline mutations that is characterized by medullary thyroid carcinoma (MTC) associated with other endocrine tumors. Several reports have demonstrated that the RET mutation profile may vary according to the geographical area. In this study, we collected clinical and molecular data from 554 patients with surgically confirmed MTC from 176 families with MEN2 in 18 different Brazilian centers to compare the type and prevalence of RET mutations with those from other countries. The most frequent mutations, classified by the number of families affected, occur in codon 634, exon 11 (76 families), followed by codon 918, exon 16 (34 families: 26 with M918T and 8 with M918V) and codon 804, exon 14 (22 families: 15 with V804M and 7 with V804L). When compared with other major published series from Europe, there are several similarities and some differences. While the mutations in codons C618, ...

Arquivos Brasileiros De Endocrinologia E Metabologia, 2009