Molecular and histological tools to diagnose an imported case of American cutaneous leishmaniasis in Cuba.

BACKGROUND: Leishmaniasis represents a polymorphous group of diseases caused by around 20 different species of Leishmania parasite. Increases in the number of cases of leishmaniasis reported as a consequence of the growth in travel and migration are of concern to epidemiologists and are diagnostically challenging in non-endemic areas. METHODS: Molecular and histological analyses of a paraffin-embedded skin biopsy were used in parallel to detect Leishmania parasites in a Cuban woman with suspicious lesions arriving in Cuba from Venezuela. Primers based on the 18S fragment of ribosomal ribonucleic acid (rRNA) and heat shock protein 70 genes (hsp70) were used for molecular detection. RESULTS: Histological studies detected the presence of the parasite. A small fragment of Leishmania DNA was amplified by polymerase chain reaction (PCR) targeting the 18S fragment using, for the first time, nucleic acid obtained from paraffin-embedded tissue as a template. Amplification of a larger fragment from the hsp70 gene did not occur. CONCLUSIONS: The detection of Leishmania DNA from paraffin-embedded tissue by means of 18S-targeted PCR is a feasible approach to diagnosis. In combination with classical methods such as histology, the molecular detection of the parasite was demonstrated to be useful in confirming Leishmania infection in a traveler.

Neurofibromatosis 1 prevalence in children aged 9-11 years, Pinar del Río Province, Cuba.

INTRODUCTION Neurofibromatosis 1 is one of the most common heritable genetic disorders in humans. It is characterized by formation of neurofibromas, with marked variability in expression. Half the cases are due to autosomal dominant inheritance; the rest arise from de novo mutations. Prevalence varies by population, and prevalence in Cuba is unknown. OBJECTIVE Determine the prevalence of neurofibromatosis 1 in a population of Cuban children aged 9-11 years old in Pinar del Río Province, Cuba. METHODS A descriptive cross-sectional study was carried out in Pinar del Río Province in 2004, in which 19,392 children were assessed for neurofibromatosis 1. The study was conducted in two phases: the first, a survey of the entire population aged 9-11 years by genetic counselors in the province's schools; the second, assessment by clinical geneticists of children who met criteria for referral to the Provincial Medical Genetics Center. Neurofibromatosis 1 cases and first-degree relatives were examined to identify the origin of the mutation (de novo or inherited). Neurofibromatosis 1 prevalence was calculated, as well as history of a first-degree relative with the disease and frequency of several principal clinical signs-café au lait spots, freckles in places unexposed to sunlight, presence of neurofibromas, Lisch nodules and characteristic bone lesions. RESULTS Of the eligible population, 99.3% was screened (10,034 boys and 9358 girls). Active case finding resulted in referral of 200 children to medical geneticists and the disease was confirmed in 17, for a prevalence of one case per 1141 children aged 9-11 years old. Café au lait spots were the most frequent sign (100%), followed by freckles in areas unexposed to sunlight (82.4%) and characteristic bone lesions (41.2%). Only 4 of the 17 cases were previously being treated for the disease. CONCLUSIONS Neurofibromatosis 1 has high prevalence in the group studied in Pinar del Rio Province and most cases are not detected in primary health care settings.

Prevalence and factors associated to the epidemic neuropathy in a population assisted by a familiar doctor in Cuba

With the outbreak of an epidemic neuropathy (EN) of unknown ethiology, a study of the prevalence and factors associated to the disease was carried out in the Zamora community, municipality of Marianao, Havana City. There were 11 patients identified with EN for a prevalence rate of 1.7/100. The major risk group was the one between 45 and 64 years of age, female sex, black skin. In the univaried analysis, a high prevalence ratio (PR) was found linked to bevarage intake (PR=5.32 95 per cent; confidence intervals (CI) = 1.2-24.4), frequent drugs intake (PR=6.59; CI=1.8-24.6), consumption of edible of non certified fats (PR=4.48; CI=1.2-16.7) and the smoking habit (PR=3.6; CI=1.1-12.2). More than 73/100 (CI=68.7-78.3) of the people under serologic study were infected with Coxsakie virus A-9 (strain 47) isolated from a patient still under research. It seems there are many factors like linder intake, antecedents of hemorrhagic conjuntivitis, nutritional aspects and others that, with the virus isolated were associated with this epidemiologic situation.