Pilot study for cystic fibrosis neonatal screening: the Cuban experience.

Background In Cuba, no screening program for cystic fibrosis (CF) has been implemented yet. The ultramicro enzyme-linked immunosorbent assay (UMELISA)® TIR NEONATAL has been developed for the measurement of immunoreactive trypsin (IRT) in dried blood spots on filter paper. The analytical performance of the kit was evaluated in the national network of laboratories.

Antenatal testing for cystic fibrosis in Cuba, 1988-2011.

INTRODUCTION Cystic fibrosis is a multisystem autosomal recessive disease with wide variability in clinical severity. It is incurable and characterized by elevated and premature mortality, as well as poor quality of life. Its frequency, lethality and devastating impact on both the physical and psychological wellbeing of patients and their families, make it a serious health problem.

[Management of the surgical pathology of the parotid gland: A review of 54 cases].

Introduction And Aim Of The Study: The management of the surgical pathology of the parotid gland and its results are relatively uniform. However, both in the diagnostic and the therapeutic aspects, there are some controversial issues which we discuss from the point of view of recent experience at our department.

Methods: A descriptive and retrospective study was conducted on patients who underwent parotidectomy for any indication between July 2004 and June 2009 (5 years).

Common mutations in Cuban cystic fibrosis patients.

So far, more than 1500 mutations have been reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Mutational spectrum varies in accordance with geographic and/or ethnic origin. In this study, we have analyzed seven common CF mutations (p.

Epidemiology of prenatal genetic and environmental factors of mental retardation in cuba.

Introduction: One of the most sensitive disabilities in human beings is intellectual disability. In April, 2003, a 10-month study was completed of all persons in Cuba with mental retardation (MR), producing results that included epidemiological variables on a national scale.

Objective: Through follow-up research, this paper describes and analyzes 4 prenatal factors associated with MR: Down syndrome (DS), fragile X syndrome (FXS), consanguinity, and maternal alcohol use during pregnancy, in order to provide recommendations for health system decision-makers on consolidating prevention strategies at the community level and improving individual attention to persons with MR.