Consulta: subjectFacets:"Genetic counseling"
Registros recuperados: 9
Data/hora: 09/06/2024 05:58:01

Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era
Provedor de dados: 74
Autores: Gomy,Israel; Diz,Maria Del Pilar Estevez.
Abstract Hereditary cancer risk assessment is a multidisciplinary and dynamic process, with the purpose of estimating probabilities of germline mutations in cancer susceptibility genes and assessing empiric risks of cancer based on personal and family histories, in order to offer clinical and molecular diagnoses and clinical management based on these risks. Genetic tests are available and most of them are reimbursed by insurance companies, although they are generally not covered by the public health systems of developing countries. More recently, molecular diagnosis of hereditary cancer is feasible through next-generation sequencing (NGS) panels. Here we review the benefits and limitations of NGS technologies in the clinical practice.
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Next-generation sequencing; Hereditary cancer; Genetic counseling; Risk assessment.
Ano: 2016
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000200184

Neuromuscular disorders: genes, genetic counseling and therapeutic trials
Provedor de dados: 74
Autores: Zatz,Mayana; Passos-Bueno,Maria Rita; Vainzof,Mariz.
Abstract Neuromuscular disorders (NMD) are a heterogeneous group of genetic conditions, with autosomal dominant, recessive, or X-linked inheritance. They are characterized by progressive muscle degeneration and weakness. Here, we are presenting our major contributions to the field during the past 30 years. We have mapped and identified several novel genes responsible for NMD. Genotype-phenotype correlations studies enhanced our comprehension on the effect of gene mutations on related proteins and their impact on clinical findings. The search for modifier factors allowed the identification of a novel "protective"; variant which may have important implication on therapeutic developments. Molecular diagnosis was introduced in the 1980s and new technologies...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Genetic diseases; Genetic counseling; Neuromuscular disorders; Stem cells; Therapies.
Ano: 2016
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000300339

Recurrence risks for isolated cases of nonsyndromic deafness
Provedor de dados: 74
Autores: Braga,Maria Cristina C.; Otto,Paulo A.
We present, in this paper, general formulae developed so as to permit the calculation of the recurrence risks for isolated cases of nonsyndromic deafness in the offspring of nonconsanguineous and consanguineous couples. We included, in all analyzed situations, the following factors: (a) a generic degree of parental consanguinity; (b) a variable proportion of environmental (non-genetic) cases of the defect, so that the formulae can be easily applied to populations with any epidemiological profile; (c) a variable number of normal sibs of the propositus. Besides presenting the logic and the detailed derivation of all original formulae, we present tables for immediate use, with the numerical values of the recurrence risks as a function of the variables...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Nonsyndromic deafness; Recurrence risks; Genetic counseling.
Ano: 2004
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000200004

Penetrance rate estimation in autosomal dominant conditions
Provedor de dados: 74
Autores: Otto,Paulo A.; Horimoto,Andréa R.V.R.
Accurate estimates of the penetrance rate of autosomal dominant conditions are important, among other issues, for optimizing recurrence risks in genetic counseling. The present work on penetrance rate estimation from pedigree data considers the following situations: 1) estimation of the penetrance rate K (brief review of the method); 2) construction of exact credible intervals for K estimates; 3) specificity and heterogeneity issues; 4) penetrance rate estimates obtained through molecular testing of families; 5) lack of information about the phenotype of the pedigree generator; 6) genealogies containing grouped parent-offspring information; 7) ascertainment issues responsible for the inflation of K estimates.
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Penetrance rate; Maximum likelihood method; Recurrence risks; Genetic counseling.
Ano: 2012
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400006

Birth defects in Brazil: Outcomes of a population-based study
Provedor de dados: 74
Autores: Oliveira-Brancati,Camila Ive Ferreira; Ferrarese,Valéria Cristina Carvalho; Costa,Antonio Richieri; Fett-Conte,Agnes Cristina.
Abstract Birth defects (BDs) are functional and structural alterations in embryonic or fetal development. With an incidence of approximately 3-5%, BDs are a leading cause of infant mortality and lifelong disability. A population-based prospective case-control study was conducted for one year with 5204 infants, between March 1st, 2011 and February 29th, 2012 in the city of São José do Rio Preto, State of São Paulo, Brazil. The incidence of BDs was 3.2% [95% confidence interval (95%CI): 2.8-3.8%]. The most common congenital anomalies were heart diseases in isolation (11.2%; 95%CI: 7.3-16.9%) followed by Down syndrome (9.5%; 95%CI: 5.9-14.8%), neural tube defects (8.9%; 95%CI: 5.4-14.1), urinary tract anomalies (7.7%; 95%CI: 4.4-12.7%), and polydactyly (7.0%;...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Malformation; Congenital anomaly; Fetal development; Genetic counseling; Public health.
Ano: 2020
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100102

Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil
Provedor de dados: 74
Autores: Palmero,Edenir I.; Caleffi,Maira; Schüler-Faccini,Lavínia; Roth,Fernanda L.; Kalakun,Luciane; Netto,Cristina Brinkmann Oliveira; Skonieski,Giovana; Giacomazzi,Juliana; Weber,Bernadete; Giugliani,Roberto; Camey,Suzi A.; Ashton-Prolla,Patricia.
In 2004, a population-based cohort (the Núcleo Mama Porto Alegre - NMPOA Cohort) was started in Porto Alegre, southern Brazil and within that cohort, a hereditary breast cancer study was initiated, aiming to determine the prevalence of hereditary breast cancer phenotypes and evaluate acceptance of a genetic cancer risk assessment (GCRA) program. Women from that cohort who reported a positive family history of cancer were referred to GCRA. Of the 9218 women enrolled, 1286 (13.9%) reported a family history of cancer. Of the 902 women who attended GCRA, 55 (8%) had an estimated lifetime risk of breast cancer ³ 20% and 214 (23.7%) had pedigrees suggestive of a breast cancer predisposition syndrome; an unexpectedly high number of these fulfilled criteria for...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Breast cancer; Genetic counseling; Hereditary cancer syndromes.
Ano: 2009
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000300004

The natural history of pregnancies with prenatal diagnosis of Trisomy 18 or Trisomy 13: Retrospective cases of a 23-year experience in a Brazilian public hospital
Provedor de dados: 74
Autores: Duque,Julio Alejandro Peña; Ferreira,Charles Francisco; Zachia,Suzana de Azevedo; Sanseverino,Maria Teresa Vieira; Gus,Rejane; Magalhães,José Antônio de Azevedo.
Abstract Trisomy 18 (T18) and trisomy 13 (T13) are polymalformative syndromes associated with a high rate of spontaneous abortions, intrauterine death, and short postnatal life. This study describes the overall outcome in a country where the therapeutic interruption of pregnancy is not available. The medical records of women with prenatal diagnosis of full trisomy of T13 or T18 between October 1994 and October 2017 were analyzed in order to describe their natural outcomes. Thirteen cases of T13 and 29 cases of T18 were included. The miscarriage rate was 9% for T18 and no cases for T13. Intrauterine fetal death occurred in 46% and 52% of cases for T13 and T18, respectively. The rate of live births for T13 was 54%, and the median survival was one day (95% CI...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Natural history of trisomy; Trisomy 13; Trisomy 18; Prenatal diagnosis; Genetic counseling.
Ano: 2019
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200286

The Cytogenetic Examination as a Tool for the Diagnosis of Chromosomal Disorders
Provedor de dados: 77
Autores: Miziara,R. C; Marques,S. B. S; Marques,J. H. S; Rezende,C; Aquino,R; Cury Rodrigues,V; Azoubel,R.
Clinically significant chromosomal abnormalities occur in about 1% of children born alive. The objective of this work was to offer the patients and the families in the community for the service of the Integrated Clinic of Uniara Health (Araraquara and region), the examination of cariotype (cytogenetic study) for confirmation or exclusion of the diagnostic suspicion of chromosomal abnormalities as well as information (genetic counseling) for the prevention of occurrence and/or recurrence of these anomalies. In the period of one year and four months these were carried out in the Integrated Clinic of Uniara Health and directed for the Laboratory of Cytogenetic Human of the same institution in 66 cytogenetic studies. In 44 patients (66.6%) the results were...
Tipo: Journal article
Palavras-chave: Cytogenetic studies; Chromosomal abnormalities; Genetic counseling.
Ano: 2011
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022011000100009

Genetics Analysis with Down Syndrome and Histopathological Examination of Buccal Epithelial Cells
Provedor de dados: 77
Autores: Kalkanli,S; Simsek,S; Balkan,M; Akbas,H; Isi,H; Oral,D; Turkyilmaz,A; Fidanboy,M; Deveci,E; Baran,O; Kalkanli,N; Alp,M. N; Budak,T.
Down syndrome is primarily caused by trisomy of chromosome 21. We reviewed cytogenetic studies performed on 1048 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbakir, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The highest frequencies of abnormal karyotypes were found among cases that were referred due to suspicion of Down syndrome (84.8%). For histologic examination to persons with Down syndrome and normal, buccal mucosa smear was prepared by rubbing. Down syndrome are disabled and control groups were compared statistically buccal epithelial cells and nuclei (p&lt;0.05). Periphery of the nucleus in some patients with Down's syndrome,...
Tipo: Journal article
Palavras-chave: Down syndrome; Buccal mucosa; Southeast Turkey; Chromosomal abnormalities; Genetic counseling.
Ano: 2013
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022013000200053