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1.
Artigo em Inglês | MEDLINE | ID: mdl-31404406

RESUMO

OBJECTIVES: Surveys of the general population regarding sex selection using pre-implantation genetic diagnosis are limited and were mainly conducted in the United States and Northern Europe. In those Western societies, surveys have shown that people's interest in using sex selection techniques is encouraged by the desire for a sexually balanced family. It is important to determine attitudes to sex selection in a wider range of countries especially that cultural differences exist among countries. STUDY DESIGN: A questionnaire-based cross-sectional study regarding attitudes towards sex selection for non-medical reasons was designed. One thousand five hundred participants of the reproductive age group presenting to the Women s Health Center at the American University of Beirut Medical Center were offered to complete the survey. The questionnaire included demographic details, obstetric and infertility history, opinions regarding sex selection, personal interest in expanding the family, and personal interest in choosing the sex of a future child. RESULTS: The response rate was 86.6%. Nineteen per cent of the respondents considered it strictly prohibited, 38.8% considered the technique acceptable only if medically indicated while 33.4% believed that it should be available to all those who request it. Multivariate logistic regression on the predictors of the variable affecting the attitudes towards sex selection showed that the educational level, religious disapproval and the desire of the opposite sex of the already existing children were the only significant predictors. CONCLUSION: The middle-eastern multi-religious population studied has a negative attitude towards sex selection through pre-implantation genetic diagnosis. Religion, educational status and desire of children of both genders were identified as the significant predictors of the decision whether to accept sex selection or not.

2.
Vnitr Lek ; 63(1): 43-48, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28225290

RESUMO

Familial hypercholesterolemia (FH) is a genetic disorder with well-known genetic transmission and clinical course. Despite great recent progress, FH is still underestimated, under-diagnosed and thus undertreated. Furthermore it represents a significant healthcare challenge as a common risk factor for the premature development of coronary heart disease. The ScreenPro FH Project is an international network project aiming at improving complex care - from timely screening, through diagnosis to up-to-date treatment of familial hypercholesterolemia in Central, Eastern and Southern Europe. An important task for the project is to harmonise and unify diagnostic and therapeutic approaches in participating countries, where the situation differs from country to country. Countries with more experience should serve as a model for countries developing the FH network.Key words: diagnosis - familial hypercholesterolemia - screening - treatment optimization.


Assuntos
Hiperlipoproteinemia Tipo II/diagnóstico , Anticolesterolemiantes/uso terapêutico , Remoção de Componentes Sanguíneos , Doença das Coronárias/epidemiologia , Europa (Continente)/epidemiologia , Europa Oriental/epidemiologia , Humanos , Hiperlipoproteinemia Tipo II/epidemiologia , Hiperlipoproteinemia Tipo II/terapia , Programas de Rastreamento , Fatores de Risco
3.
Vnitr Lek ; 63(1): 25-30, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28225288

RESUMO

INTRODUCTION: Despite great recent progress, familial hypercholesterolemia (FH) is still underestimated, under-diagnosed and thus undertreated worldwide. We have very little information on exact prevalence of patients with FH in the Central, Eastern and Southern Europe (CESE) region. The aim of the study was to describe the epidemiological situation in the CESE region from data available. METHODS: All local leaders of the ScreenPro FH project were asked to provide local data on (a) expert guess of FH prevalence (b) the medical facilities focused on FH already in place (c) the diagnostic criteria used (d) the number of patients already evidenced in local database and (e) the availability of therapeutic options (especially plasma apheresis). RESULTS: With the guess prevalence of FH around 1 : 500, we estimate the overall population of 588 363 FH heterozygotes in the CESE region. Only 14 108 persons (2.4 %) were depicted in local databases; but the depiction rate varied between 0.1 % and 31.6 %. Only four out of 17 participating countries reported the the LDL apheresis availability. CONCLUSION: Our data point to the large population of heterozygous FH patients in the CESE region but low diagnostic rate. However structures through the ScreenPro FH project are being created and we can hope that the results will appear soon.Key words: diagnosis - epidemiology - familial hypercholesterolemia - screening.


Assuntos
Hiperlipoproteinemia Tipo II/epidemiologia , Bases de Dados Factuais , Europa (Continente)/epidemiologia , Europa Oriental/epidemiologia , Heterozigoto , Humanos , Hiperlipoproteinemia Tipo II/diagnóstico , Programas de Rastreamento , Prevalência
4.
Ann Vasc Surg ; 28(2): 421-6, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24120234

RESUMO

BACKGROUND: Intima-media thickness (IMT) is a well-described marker of cardiovascular disease. In this study we aim to determine whether low-density lipoprotein (LDL) levels and disease-related mutation status can predict IMT in patients with severe familial hypercholesterolemia (FH) referred for or on LDL apheresis. METHODS: Genetic screening, lipid profile testing, and IMT measurements were performed on a series of 33 severe FH patients (19 homozygous) on LDL apheresis treatments (LDL 447 ± 151 mg/dL, age range 6-60 years). Data were then compared with literature IMT-LDL data for normal subjects, mild FH patients, and severe FH patients (18, 41, and 6 studies, respectively). RESULTS: Age-adjusted IMT was linearly related to LDL levels over a wide range of values (<500 mg/dL), except for the severe FH no-apheresis cohort. Alternatively, our severe FH population (mostly on apheresis) did follow the mild FH/control age-adjusted IMT-LDL relation. CONCLUSIONS: In severe FH, measuring LDL levels is more predictive of increased IMT than genetic screening.


Assuntos
Doenças das Artérias Carótidas/etiologia , Espessura Intima-Media Carotídea , Hiperlipoproteinemia Tipo II/complicações , Lipoproteínas LDL/sangue , Mutação , Adolescente , Adulto , Fatores Etários , Apolipoproteínas E/genética , Biomarcadores/sangue , Remoção de Componentes Sanguíneos , Doenças das Artérias Carótidas/sangue , Doenças das Artérias Carótidas/diagnóstico , Doenças das Artérias Carótidas/genética , Estudos de Casos e Controles , Criança , Análise Mutacional de DNA , Predisposição Genética para Doença , Testes Genéticos/métodos , Heterozigoto , Homozigoto , Humanos , Hiperlipoproteinemia Tipo II/sangue , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/genética , Hiperlipoproteinemia Tipo II/terapia , Pessoa de Meia-Idade , Fenótipo , Valor Preditivo dos Testes , Receptores de LDL/genética , Fatores de Risco , Índice de Gravidade de Doença , Adulto Jovem
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