[WITH OPHTHALMOLOGISTS FROM THE REPUBLIC OF CUBA].
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Three hundred and forty-three Cuban women at risk of having children with sickle cell anaemia or sickle cell-haemoglobin C disease were interviewed 2-8 years after the index pregnancy (that in which their risk was detected). The aim was to collect information on their attitude towards prenatal diagnosis in subsequent pregnancies. Twenty-two per cent (75/343) had dissolved their marriage and 9 per cent of these (7/75) considered that their at-risk status had influenced the separation. Sixty-three per cent of stable couples at risk (168/268) had decided to have no further children; 27 per cent of these (45/168) were afraid of having an affected child and 4 per cent (7/168) were afraid of the obstetric procedure. Nineteen per cent of the stable couples at risk (52/268) had had at least one further child or pregnancy. Of these, 44 per cent (23/52) requested prenatal diagnosis early and spontaneously, and a further 44 per cent (23/52) requested prenatal diagnosis but after re-identification by screening and recounselling. Only 12 per cent (6/52) did not request prenatal diagnosis. Attitude towards prenatal diagnosis was most positive among more educated women. The general perception of the prevention programme was good.
In this study we report the mutation analysis performed in Cuban PKU patients using DGGE and direct sequencing. Sixteen different mutations have been detected, which account for 91% of the total mutant alleles. Haplotype analysis and genealogical data support the European (mainly Spanish) origin of the mutations. Two mutations were found at unexpectedly high frequencies, E280K and R261Q, possibly due to consanguinity and genetic drift, among other factors. Hum Mutat 18:252, 2001.
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A seroepidemiological study of hepatitis E virus (HEV) infection was conducted in a district of Havana, where hepatitis A virus (HAV) is considered endemic. The levels of anti-HEV antibodies were evaluated by enzyme-linked immunosorbent assay (ELISA) based on the recombinant protein GST-ORF2.1. Anti-HEV antibodies were detected in 11 of 209 (5.3%) of serum samples, compared to 71.3% for anti-HAV antibodies. No risk factors reported previously for HEV infection showed a significant association with the presence of anti-HEV antibodies, whereas anti-HAV antibodies were strongly associated with increasing age. HEV may be considered endemic in this area and is likely to have a significant clinical impact.
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Glucose-6-phosphate dehydrogenase (G6PD) deficiency was identified in two children who were studied because of hemolytic episodes. The electrophoretic and kinetic properties of the mutant enzymes allowed us to conclude that both of them were new variants. They were named G6PD Guantánamo and G6PD Caujerí.
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Seven patients with acute promyelocytic leukemia (APL) were treated with all-trans retinoic acid (ATRA). Five (71.4%) achieved complete remission (CR). Most side effects were transient and well tolerated. Hyperleukocytosis was the major adverse effect. These observations confirm the efficacy of ATRA for inducing CR in APL.