346 research outputs found
Genetic epidemiology of susceptibility to malaria: not only academic exercises.
No full textDescriptive genetic epidemiology represents the initial step of a logical procedure of linked and consequential phases spanning from the identification of genes involved in the resistance/susceptibility to diseases, to the determination of the underlying mechanisms and finally to the possible translation of the acquired knowledge in new control tools. In malaria, the rational development and potential of this pathway is based on complementary interactions of heterogeneus disciplines going from epidemiology (the transmission, the infection, the disease) to vaccinology passing through genetics, pathogenesis, and immunology. Several epidemiological approaches can be applied in the study of the genetic susceptibility to Plasmodium falciparum malaria: intra-ethnic case-control studies comparing genetic candidates of resistance/susceptibility between subjects with different presentation of malaria (from severe disease to asymptomatic infection) and the general healthy population is the classic approach; inter-ethnic comparative analyses among populations with different genetic backgrounds, exposed to the same epidemiological context and showing different susceptibility to the disease is a further, complementary, strategy
Haemoglobin S and haemoglobin C: 'quick but costly' versus 'slow but gratis' genetic adaptations to Plasmodium falciparum malaria.
No full textHaemoglobin C and S in natural selection against Plasmodium falciparum malaria: a plethora or a single shared adaptive mechanism?
No full textConclusive evidence exists on the protective role against clinical Plasmodium falciparum malaria of Haemoglobin S (beta 6Glu-->Val) and HbC (HbC; beta 6Glu-->Lys), both occurring in sub-Saharan Africa. However, the mechanism/s of the protection exerted remain/s debated for both haemoglobin variants, HbC and HbS. Recently, an abnormal display of PfEMP1, an antigen involved in malaria pathogenesis, was reported on HbAC and HbCC infected erythrocytes that showed reduced cytoadhesion and impaired rosetting in vitro. On this basis it has been proposed that HbC protection might be attributed to the reduced PfEMP1-mediated adherence of parasitized erythrocytes in the microvasculature. Furthermore, impaired cytoadherence was observed in HbS carriers suggesting for the first time a convergence in the protection mechanism of these two haemoglobin variants. We investigated the impact of this hypothesis on the development of acquired immunity against P. falciparum variant surface antigens (VSA) encoding PfEMP1 in HbC and HbS carriers in comparison with HbA of Burkina Faso. Higher immune response against a VSA panel and several malaria antigens were observed in all adaptive genotypes containing at least one allelic variant HbC or HbS in the low transmission urban area whereas no differences were detected in the high transmission rural area. In both contexts the response against tetanus toxoid was not influenced by the beta-globin genotype. Thus, these findings suggest that both HbC and HbS affect the early development of naturally acquired immunity against malaria. We reviewed the hypothesized mechanisms so far proposed in light of these recent results
High risk of severe anaemia after chlorproguanil-dapsone+artesunate antimalarial treatment in patients with G6PD (A-) deficiency.
No full textBACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited human enzyme defect. This deficiency provides some protection from clinical malaria, but it can also cause haemolysis after administration of drugs with oxidant properties. METHODS: The safety of chlorproguanil-dapsone+artesunate (CD+A) and amodiaquine+sulphadoxine-pyrimethamine (AQ+SP) for the treatment of uncomplicated P. falciparum malaria was evaluated according to G6PD deficiency in a secondary analysis of an open-label, randomized clinical trial. 702 children, treated with CD+A or AQ+SP and followed for 28 days after treatment were genotyped for G6PD A- deficiency. FINDINGS: In the first 4 days following CD+A treatment, mean haematocrit declined on average 1.94% (95% CI 1.54 to 2.33) and 1.05% per day (95% CI 0.95 to 1.15) respectively in patients with G6PD deficiency and normal patients; a mean reduction of 1.3% per day was observed among patients who received AQ+SP regardless of G6PD status (95% CI 1.25 to 1.45). Patients with G6PD deficiency recipients of CD+A had significantly lower haematocrit than the other groups until day 7 (p = 0.04). In total, 10 patients had severe post-treatment haemolysis requiring blood transfusion. Patients with G6PD deficiency showed a higher risk of severe anaemia following treatment with CD+A (RR = 10.2; 95% CI 1.8 to 59.3) or AQ+SP (RR = 5.6; 95% CI 1.0 to 32.7). CONCLUSIONS: CD+A showed a poor safety profile in individuals with G6PD deficiency most likely as a result of dapsone induced haemolysis. Screening for G6PD deficiency before drug administration of potentially pro-oxidants drugs, like dapsone-containing combinations, although seldom available, is necessary
Il Turismo Accessibile: una possibile alternativa per la competitività territoriale.
No full textThe author offer a reflection on accessible tourism, defined as a way of allowing to fully enjoy their stay all those who for various reasons - economic, physical, cultural, political, but also religious- are not guaranteed the inalienable right to a holiday; thus, the wellbeing of the visitors is reconciled with the preservation of the cultural heritage.
The starting point for the analysis is the concept of sustainable tourism; a concept which has been discussed for at least two decades and on which nearly everyone agrees, but which is of difficult practical application in the field of tourism; the difficulties are due to problems relating to measurability, definition and the existence of conflicting statistics.
Accessibility is linked strongly to sustainability; accessible tourism does not only pay attention to the needs of the disabled but to everyone's; through a very high quality offer, accessible tourism is able to respond to the needs of children, the elderly, mothers pushing prams, people with limited physical ability or sensory impairments or who have food-related allergies or issues, so that they can make full use of the holiday or their free time without obstacles and difficulties.
Accessible tourism can be an opportunity for all locations through an offer of more liveable and hospitable destinations that can meet the expectations of people with special needs.
In fact it achieves an advantage for the local community, because improved accessibility favours the development of the most authentic social relations in a sustainable way
Il delitto di onore e l'aggravante dei 'futili motivi' culturalmente (e religiosamente) motivata,
No full textContributo sottoposto a valutazione. Il contributo è destinato alla pubblicazione nel volume degli Atti del Corso di formazione giuridica in materia di pari opportunità e violazione del divieto di discriminazione di genere, organizzato dal Comitato Pari Opportunità presso il Consiglio dell\u27Ordine degli Avvocati di Napoli, ottobre 2013- giugno 2014SOMMARIO:1. I reati culturalmente motivati e il tentato omicidio per causa di “onore” - 2. Il concetto di onore nella cultura e nella tradizione giuridica dei Paesi mussulmani - 3. L\u27aggravante dei futili motivi nel nostro sistema penale - 4. Considerazioni conclusive. ABSTRACT The crime of honor and the aggravating factor of the trivial reasons\u27 culturally (and religiously) motivated A recent case law of the Italian Court of Cassation, on 2013, ruled that, in the case of the attempted murder of a daughter, trivial reasons cannot be considered based on the honor of the family and the violation of a fundamental religious precept. The evaluation of these cases then relates to that, of a much broader scope, linked to the concept of \u27cultural crimes\u27 or cultural defence. It is necessary, however, to perform a careful balancing between guilt and offensiveness proportion on the one hand and, on the other hand, to consider the extent to which the author of a culturally motivated crime can enjoy a punitive treatment, though attenuated compared to those who commit the same crime without a cultural motivation. A judgment intrinsically linked to a cultural and ethical relativism, cannot be accepted that though respecting the multiculturalism of the western society in general, and of the Italian one in particular, must always find its legitimacy by submitting to the principles and values on which the Italian Constitution is founded
Interferon regulatory factor-1 polymorphisms are associated with the control of Plasmodium falciparum infection.
No full textWe describe the haplotypic structure of the interferon regulatory factor-1 (IRF-1) locus in two West African ethnic groups, Fulani and Mossi, that differ in their susceptibility and immune response to Plasmodium falciparum malaria. Both populations showed significant associations between IRF-1 polymorphisms and carriage of P. falciparum infection, with different patterns of association that may reflect their different haplotypic architecture. Genetic variation at this locus does not therefore account for the Fulani-specific resistance to malaria while it could contribute to parasite clearance's ability in populations living in endemic areas. We then conducted a case-control study of three haplotype-tagging single nucleotide polymorphisms (htSNPs) in 370 hospitalised malaria patients (160 severe and 210 uncomplicated) and 410 healthy population controls, all from the Mossi ethnic group. All three htSNPs showed correlation with blood infection levels in malaria patients, and the rs10065633 polymorphism was associated with severe disease (P=0.02). These findings provide the first evidence of the involvement in malaria susceptibility of a specific locus within the 5q31 region, previously shown to be linked with P. falciparum infection levels
GNB study dataset
No full textThe data were collected between 2020 and 2022 as part of a study aimed to characterize G6PD activity in infants ages 2-3 months and 4-6 months
Haemoglobin S and haemoglobin C: 'quick but costly' versus 'slow but gratis' genetic adaptations to Plasmodium falciparum malaria.
No full textHaemoglobin S (HbS; beta6Glu-->Val) and HbC (beta6Glu-->Lys) strongly protect against clinical Plasmodium falciparum malaria. HbS, which is lethal in homozygosity, has a multi-foci origin and a widespread geographic distribution in sub-Saharan Africa and Asia whereas HbC, which has no obvious CC segregational load, occurs only in a small area of central West-Africa. To address this apparent paradox, we adopted two partially independent haplotypic approaches in the Mossi population of Burkina Faso where both the local S (S(Benin)) and the C alleles are common (0.05 and 0.13). Here we show that: both C and S(Benin) are monophyletic; C has accumulated a 4-fold higher recombinational and DNA slippage haplotypic variability than the S(Benin) allele (P = 0.003) implying higher antiquity; for a long initial lag period, the C alleles did apparently remain very few. These results, consistent with epidemiological evidences, imply that the C allele has been accumulated mainly through a recessive rather than a semidominant mechanism of selection. This evidence explains the apparent paradox of the uni-epicentric geographic distribution of HbC, representing a 'slow but gratis' genetic adaptation to malaria through a transient polymorphism, compared to the polycentric 'quick but costly' adaptation through balanced polymorphism of HbS
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