ABSTRACT
Haiti, like most limited-resources countries in the world, faces numerous neglected infectious diseases. They represent a real public health issue with lethal consequences especially in children. We are reviewing here the available literature on four neglected infectious diseases, mansonelliasis, tungiasis, leprosy and anthrax. Filariasis, due to Mansonella ozzardi, has been totally neglected since its discovery in 1920 in Haiti; it persists in coastal homes with a high prevalence in adults when an effective treatment is available. The skin lesions caused by Tunga penetrans have existed since the pre-Columbian period in Haiti. They persist in the most retreated and hard-to-reach areas where the population lives in precarious conditions and in extreme poverty. New available research data show the importance of the problem with very high prevalence rates in some rural communities far away from any healthcare center. Cases of leprosy are recently reemerging as no monitoring program has been in place since 2004. Finally, anthrax is still endemic; small epidemics resurfacing periodically in families in rural areas. Screening of people for these diseases and managing the cases are necessary to improve health and reduce morbidity and mortality in Haiti.
Comme dans la plupart des pays pauvres de la planète, les maladies infectieuses négligées sont nombreuses en Haïti où elles représentent un réel problème de santé publique avec des conséquences létales, surtout pour les enfants. Nous faisons le point des données accessibles pour quatre d'entre elles. Totalement délaissée depuis la découverte de sa présence en Haïti en 1920, la filariose due à Mansonella ozzardi persiste en foyers côtiers avec une prévalence élevée chez les adultes alors qu'un traitement efficace est disponible. Connues depuis la période précolombienne dans l'île d'Hispaniola, les lésions cutanées dues à Tunga penetrans persistent dans les régions les plus reculées et difficiles d'accès où la population vit dans des conditions précaires et dans une très grande pauvreté. Nous rapportons les données d'enquêtes récentes qui montrent l'importance de cette ectoparasitose en Haïti où les taux de prévalence sont très élevés dans certaines communautés rurales isolées. Des cas de lèpre resurgissent en Haïti alors qu'aucun programme de surveillance n'est effectif depuis 2004. Enfin, la maladie du charbon est endémique dans les régions d'élevage où des épidémies familiales resurgissent périodiquement en milieu rural. Le dépistage des personnes atteintes de ces maladies et leur prise en charge sont nécessaires pour une amélioration de la santé et une baisse de la mortalité en Haïti.
Subject(s)
Anthrax/epidemiology , Leprosy/epidemiology , Mansonelliasis/epidemiology , Neglected Diseases/epidemiology , Tungiasis/epidemiology , Adolescent , Adult , Aged , Animals , Child , Child, Preschool , Female , Filariasis/epidemiology , Haiti/epidemiology , Humans , Infant , Infant, Newborn , Male , Middle Aged , Prevalence , Young AdultABSTRACT
Niemann-Pick type C disease (NPC), a neurovisceral disorder characterized by accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal system, is due to mutations on either the NPC1 or the NPC2 genes. We report the diagnosis of six unrelated patients with NPC2, all with homozygous mutations. We further attempted functional characterization of the p.P120S, p.Q146X and IVS1 + 2 t>c mutations under native conditions. This was achieved by immunoblotting and immunocytofluorescence microscopy on cultured skin fibroblasts and in silico modeling. IVS1 + 2 t>c led to multiple transcripts, with only abnormally spliced cDNAs. Among the three NPC2 variants, only p.P120S led to detectable amounts of an immunoreactive protein. This protein showed a normal lysosomal localization. Our results suggest that the p.P120S mutation, the first naturally occurring missense mutation located in the cholesterol-binding Evolutionarily Constrained Regions D domain, results in reduced amounts of a protein capable to reach the lysosome, but unable to efficiently bind cholesterol. The patient had a juvenile neurological onset form of the disease. An update of the 22 families with mutations in the NPC2 gene, currently known to us, confirms the good genotype-phenotype correlations seen in this disorder. Characterization of more naturally occurring NPC2 mutations may help to dissect further the functional domains of the protein.
Subject(s)
Carrier Proteins/genetics , Glycoproteins/genetics , Mutation , Niemann-Pick Disease, Type C/genetics , Adolescent , Amino Acid Sequence , Base Sequence , Carrier Proteins/chemistry , Carrier Proteins/metabolism , Cells, Cultured , Child , Child, Preschool , DNA Mutational Analysis , DNA, Complementary/genetics , Female , Fibroblasts/metabolism , Genotype , Glycoproteins/chemistry , Glycoproteins/metabolism , Homozygote , Humans , Infant , Infant, Newborn , Male , Microscopy, Fluorescence , Models, Molecular , Molecular Sequence Data , Niemann-Pick Disease, Type C/diagnosis , Niemann-Pick Disease, Type C/metabolism , Phenotype , RNA Splicing/genetics , Vesicular Transport ProteinsABSTRACT
We present the second case of monochorionic diamniotic (MC/DA) conjoined twins. There was minimal conjunction, which was predominantly extrafetal and confined to the periumbilical ventral region. The omphalopagus twins, attached to a single forked umbilical cord, were connected by a shared umbilical hernia containing the ileum of twin B. The only visceral conjunction, located just within the belly of twin A, was midileal with the 2 separate ileums converging toward a short segment of shared muscularis propria and of side-to-side fistulization. Gastrointestinal and musculoskeletal anomalies were present in both twins with severe amyoplasia and arthrogryposis multiplex in twin A. Possible mechanisms underlying this unusual form of MZ twinning are discussed.
