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.

Ineffective Esophageal Motility Is Associated with Impaired Bolus Clearance but Does Not Correlate with Severity of Dysphagia.

Background: Ineffective esophageal motility (IEM) is defined as a distal contractile integral < 450 mmHg/s/cm in at least 50% of ten liquid swallows on high-resolution esophageal manometry (HREM). Whether this latest definition correlates with degree of symptoms has not been studied.

Methods: Patients presenting for HREM prospectively rated their symptoms using the Eckardt score.

Screening Colonoscopy among Uninsured and Underinsured Urban Minorities.

Background/aims: Uninsured individuals have lower rates of screening colonoscopy (SC), and little is known regarding the pathology results obtained when they undergo colonoscopies. Since 2004, we have participated in a program that offers SC to uninsured New Yorkers; herein, we report our findings.

Methods: Uninsured, average-risk patients who were at least 50 years of age underwent SC at our institution between April 2004 and June 2011.

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.

Anterior limb of the internal capsule in schizotypal personality disorder: fiber-tract counting, volume, and anisotropy.

Mounting evidence suggests that white matter abnormalities and altered subcortical-cortical connectivity may be central to the pathology of schizophrenia (SZ). The anterior limb of the internal capsule (ALIC) is an important thalamo-frontal white-matter tract shown to have volume reductions in SZ and to a lesser degree in schizotypal personality disorder (SPD). While fractional anisotropy (FA) and connectivity abnormalities in the ALIC have been reported in SZ, they have not been examined in SPD.

Attentional network task in schizophrenic patients and theirs unaffected first degree relatives: a potential endofenotype.

Introduction: In recent years, reports of attentional deficits in schizophrenic patients and in their biological relatives have rapidly increased, including an important effort to search for the endophenotypes in order to link specific genes to this illness. Posner et al. developed a test, the Attention Network Test (ANT), to study the neural networks.

[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.

Frequency of delta-F508 mutation and XV2C/KM19 haplotypes in Cuban cystic fibrosis families.

We tested the frequency of the delta F508 mutation and haplotypes linked to the cystic fibrosis (CF) gene in Cuba. The delta F508 deletion was detected in 34.0% of the CF chromosomes.

Results from a reference laboratory for prenatal diagnosis of sickle cell disorders in Cuba.

A nationwide programme for the prevention of sickle cell (SS and SC) disorders was initiated in Cuba in 1983. Couples at risk were identified by screening pregnant women and the partners of those who carry an abnormal haemoglobin, followed by genetic counselling and the offer of prenatal diagnosis. Prenatal diagnosis was performed in one laboratory, which had carried out 1068 prenatal tests for Hb SS and SC disorders by the end of 1992.