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ABSTRACT: Uric acid represent the final product of purine metabolism: one-third of daily uric acid production is excreted by the gastrointestinal
tract and two-thirds by the kidney. A high uric acid excretion with urine, a low urine volume due to dehydration and an acidic
urinary pH value have been suggested to be the most important risk factor for uric acid nephrolithiasis (UAN). Recently mutation
analysis showed that a variant (Ala62Thr) in a specific protein isoform (Talanin) is associated with UAN. We found that this
variant is rather common in the Sardinian (32%) and Sicilian populations (23%), that are Mediterranean islands, as well as
in the Italian peninsula (27%). On the contrary, in Burkina Faso and in Benin, both sub-Saharan countries, mesoendemic regions
for Plasmodium falciparum malaria and other parasite infections, a low incidence of this variant was found (1.1% and 1.2%
respectively). In Burkina Faso and in Benin, the low incidence of Ala62Thr variant is associated with low presence of UAN
and the major classes of stones reported are calcium oxalate and calcium phosphate. These low frequencies for Ala62Thr predisposing
to UAN in Burkina Faso and in Benin may represent the result of a selective mechanism where the arid conditions of territory
and the characteristic alimentary habits of this part of Africa may represent an obstacle to the expansion of mutated allele.
International Journal of Anthropology 04/2012; 19(4):281-288.
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J Simpore,
V Pietra,
S Pignatelli,
D Karou,
W M C Nadembega,
D Ilboudo,
F Ceccherini-Silberstein,
W N Ghilat-Avoid-Belem,
M C Bellocchi,
N Saleri,
M J Sanou,
C M Ouedraogo,
J B Nikiema,
V Colizzi,
C P Perno,
F Castelli, S Musumeci
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ABSTRACT: The present research was aimed to prevent mother-to-child transmission of HIV; to use RT-PCR in order to detect, 6 months after birth, infected children; and to test the antiretroviral resistance of both children and mothers in order to offer them a suitable therapy. At the Saint Camille Medical Centre, 3,127 pregnant women (aged 15–44 years) accepted to be enrolled in the mother-to-child transmission prevention proto-col that envisages: (i) Voluntary Counselling and Testing for all the pregnant women; (ii) Antire-troviral therapy for HIV positive pregnant women and for their newborns; (iii) either powdered milk feeding or short breast-feeding and RT-PCR test for their children; (iv) finally, pol gene sequencing and antiretroviral resistance identifications among HIV positive mothers and children. Among the patients, 227/3,127 HIV seropositive women were found: 221/227 HIV-1, 4/227 HIV-2, and 2/227 mixed HIV infections. The RT-PCR test allowed the detection of 3/213 (1.4%) HIV infected children: 0/109 (0%) from mothers under ARV therapy and 3/104 (2.8%) from mothers treated with Nevirapine. All children had recombinant HIV-1 strain (CRF06_CPX) with: minor PR muta-tions (M36I, K20I) and RT mutations (R211K). Among them, two twins had Non-Nucleoside Reverse Transcriptase Inhibitor mutation (Y18CY). Both mothers acquired a major PR mutation (V8IV), investigated 6 months after a single-dose of Nevirapine. Prevention by single-dose of Nevirapine reduced significantly mother-to-child transmission of HIV, but caused many mutations and resistance to antiretroviral drugs. Based on present study the antiretroviral therapy protocol, together with the artificial-feeding, might represent the ideal strategy to avoid transmission of HIV from mother-to-child.
Journal of Medical Virology 01/2007; 79(79):873-879873. · 2.82 Impact Factor
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Annals of the New York Academy of Sciences 12/2006; 612(1):549 - 552. · 3.15 Impact Factor
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W M Nadembega,
S Giannella,
J Simpore,
F Ceccherini-Silberstein,
V Pietra,
A Bertoli,
S Pignatelli,
M C Bellocchi,
J B Nikiema,
G Cappelli,
A Bere,
V Colizzi,
C P Perno, S Musumeci
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ABSTRACT: Non-B HIV subtypes have been estimated to account for 88% of HIV infections in the world. These subtypes are particularly relevant in view of the availability of antiretroviral (ARV) drugs, since subtype-specific mutations are associated with drug-resistance in developing countries. Therefore, the pol gene sequences in HIV-1 isolates were examined from the three distinct groups of 39 infected patients from Ouagadougou in Burkina Faso: 17 patients who had not received any antiretroviral therapy (ART); 16 patients received ART, and 6 HIV-infected children, from infected mothers, received a single Nevirapine dose prophylaxis during birth. HIV-1 pol sequencing was successful for 29 samples. As expected, all patients presented the common (non-B subtype) M36I polymorphism and 26/29 (90%) the K20I mutation. Phylogenetic studies showed high predominance of recombinant HIV-1 strains: CRF06_cpx 16/29 (55.17%), CRF02_AG 9/29 (31.03%), A1 2/29 (6.89%), G 1/29 (3.44%), and CRF09_cpx 1/29 (3.44%). Two twins showed, 6 months after birth, a NNRTI-mutation (Y181C/Y). During the same period, the twin mother presented a different NNRTI-mutation (V106I), thus suggesting that the different blood drug concentration may determine a different drug-resistance pathway. Among 17 non-highly active antiretroviral therapy (HAART) patients, 3/17 (17.64%) presented virus with reverse transcriptase (RT) mutations [V118I: 1/17 patients (5.88%), V179E: 2/17 patients (11.76%)]. 10/17 (58.82%) presented virus with minor protease (PR) mutations [L63P: 5/17 patients (29.41%), V77I: 3/17 patients (17.64%), L10I: 2/17 patients (11.76%)]. 4/17 patients did not show any PR and RT mutations (23.52%). Among six HAART-treated patients, 6/6 and 3/6 had M36I and L63LP protease minor subtypes, respectively; and only two (33.33%) presented virus with K103N mutation. The low prevalence of drug-resistant associated mutations in Burkina Faso is encouraging. However, further studies with a larger cohort with a high non-B subtype prevalence are necessary to optimize ART in developing countries.
Journal of Medical Virology 12/2006; 78(11):1385-91. · 2.82 Impact Factor
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ABSTRACT: Human chitotriosidase (Chit), a chitinolytic enzyme, is a member of the chitinase family. In human plasma, Chit activity has been proposed as a biochemical marker of macrophage activation in several lysosomal diseases. Recently we found that Chit activity is higher in patients affected by Plasmodium falciparum malaria infection, suggesting that Chit may reflect induction of an immunological response. To assess this hypothesis, we evaluated the CHIT1 mRNA levels in human monocytes/macrophages (HMMs) following treatment with interferon-gamma (IFNgamma), tumor necrosis factor-alpha (TNFalpha), and lipopolysaccharide (LPS). Stimulation of macrophages with INF-gamma, TNF-alpha, and LPS resulted in an increase in Chit activity as well as the levels of CHIT1 mRNA as measured by quantitative real-time PCR. The data presented in this article show that Chit plays a role in the response to the activation of INF-gamma-, TNF-alpha-, and LPS-driven macrophages, suggesting that the production of Chit by macrophages could have biological relevance in the immune-response.
Journal of Clinical Laboratory Analysis 02/2005; 19(3):128-32. · 1.38 Impact Factor
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ABSTRACT: Plasmodium falciparum utilises the polyamine pathway, essential in proliferation and differentiation, and imposes an oxidative stress on host cell, enhancing the loss of glutathione.
Standard hematological parameters were determined in 40 black African subjects with acute P. falciparum malaria, 30 aged 5-24 months, 5 aged 4-10 years and 5 aged 19-35 years. Plasma homocysteine, cysteine, glutathione and cysteinylglycine levels were measured by HPLC method. Twenty-eight healthy black children (15 aged 6-24 months and 13 aged 3-10 years) and 20 healthy black adults (aged 20-40 years) were also included as controls.
Plasma homocysteine levels were higher in all subjects with P. falciparum malaria and correlated positively with the disease severity and number of parasites, but negatively with Hb levels and patient ages. Cysteine level was found higher in all patients and markedly higher in 4-10 year old patients. Cysteinylglycine level was found lower particularly in 19-35 year old patients. Glutathione level was significantly lower in all patients.
The elevated level of homocysteine during acute P. falciparum infection suggests an imbalance in the folate cycle, which could be a consequence of the reduced availability of NADPH and Vit B12, caused by increased oxidative stress. This may suggest a selection for the C677T MTHFR allele, driven by P. falciparum in sub-Saharan regions. Hence Hcy level could be useful as a predictive parameter of severity, as well as of treatment efficacy.
Clinica Chimica Acta 11/2004; 348(1-2):113-20. · 2.54 Impact Factor
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ABSTRACT: In Burkina Faso, in contrast with high rates of Helicobacter pylori infection from an early age, the prevalence of H. pylori-associated diseases (ulcer and gastric cancer) is low.
To look for the prevalence of H. pylori in healthy natives of Burkina Faso, both children and adults.
We studied the prevalence of H. pylori infection in 258 healthy natives of Burkina Faso (70 children aged 6 months-15 years and 188 adults aged 16-65 years), using a serological screening (IgA and IgG H. pylori antibodies). All the studied subjects underwent a questionnaire regarding their life-style, socio-economic status, dietary habits and hygienic sanitary conditions. Data concerning the questionnaire were compared between H. pylori positive and negative subjects.
The rates of H. pylori positivity in children were significantly higher than in adults, and in adults the positivity for H. pylori infection decreased with increasing age. The comparison of the questionnaire's data between H. pylori seropositive and seronegative subjects showed that poor socio-economic status and hygienic sanitary conditions were similar in the two groups. Instead, a higher prevalence of H. pylori positivity was observed in subjects belonging to families living in close contact with sheep, because of their labour and agro-pastoral tradition (shepherds and sedentary farmers).
H. pylori infection in Burkina Faso is acquired early in life and is related not only to some yet well-known risk factors (poor socio-economic and hygienic status), but also to a close contact with sheep. The gradually decreasing H. pylori seropositivity in adult population of Burkina Faso represents an unexplained enigma, which needs further studies.
Digestive and Liver Disease 10/2004; 36(9):589-93. · 3.05 Impact Factor
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ABSTRACT: Recently, we identified a susceptibility locus for human Uric Acid Nephrolithiasis (UAN) on 10q21-q22 and showed that a variant
(Ala62Thr) of a novel gene (ZNF365) encoding a specific protein (Talanin) is associated with Uric Acid Nephrolithiasis (UAN)
(OMIM 605990). We analyzed the frequency of this polymorphism associated with UAN in some ethnic groups from the Mediterranean
to the African area. We found that this variant is common in Sardinian (frequency 32%) and Sicilian populations (frequency
23%). Both Mediterranean islands in the Italian peninsula this frequency was 27%. On the contrary, in Burkina Faso and in
Benin, both Sub-Saharan countries, a low frequency of this variant predisposing to UAN was found (1.1% and 1.2% respectively).
This low frequency of Ala62Thr is associated with a low prevalence of UAN in Burkina Faso and in Benin.
International Journal of Anthropology 09/2004; 19(4):277-280.
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ABSTRACT: Human chitotriosidase (Chit), a chitinolytic enzyme, is a member of the chitinase family. In human's plasma Chit activity have been proposed as a biochemical marker of macrophage activation in several lysosomal diseases. Recently we found that Chit activity is higher in patients affected by Plasmodium falciparum malaria infection suggesting that chitotriosidase may induce an immunological response. The pituitary hormone prolactin (PRL) is a multifunctional polypeptide also produced by immune cells and represents a key component of the neuroendocrine-immune loop. The presence of PRL receptors in macrophage suggests that PRL is involved in regulating functions in these cells. Our objective in this study was to investigate the effect of PRL in human monocyte-derived macrophages (HMMs) on Chit production. Administration of PRL in HMMs was found to increase both expression and activity of Chit in a time and dose dependent manner as quantified, respectively, by real time PCR and Chit activity assay. PRL-treated monocyte-derived macrophages showed also an enhanced release of superoxide anion (O2-) release. Our observations confirm that PRL regulates HMMs activation and suggest, for the first time, that it influences immune function also through the induction of Chit activity.
Immunology Letters 07/2004; 94(1-2):57-63. · 2.53 Impact Factor
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ABSTRACT: Human chitotriosidase (Chit) is a member of the chitinase family and it is synthesized by activated macrophages. Recently, a genetic polymorphism was found to be responsible for the common deficiency in Chit activity, frequently encountered in different populations. We analyzed the Chit gene in some ethnic groups from the Mediterranean and African areas, to evaluate whether the Chit gene polymorphism correlates with the changes in environmental features and the disappearance of parasitic diseases. We found a heterozygote frequency for the duplication of 24 bp in exon 10 of 44% in Sicily and 32.71% in Sardinia, whereas those homozygous Chit deficient were 5.45 and 3.73%, respectively. In contrast, in Benin and Burkina Faso, both mesoendemic regions for Plasmodium falciparum malaria and other infections due to intestinal parasites, a low incidence of Chit mutation was found (heterozygous 0 and 2%, respectively) and no subject was homozygous for Chit deficiency. Our results provide evidence of the fact that the low frequency or the absence of mutant Chit gene may represent a protective factor in the population still living in disadvantaged environmental conditions. The present study suggests that the disappearance of parasitic diseases and the improved environmental conditions may have ensued the occurrence of a high percentage of 24-bp mutation in Sicily, in Sardinia and in other Mediterranean countries, whereas in the sub-Saharan regions (Benin and Burkina Faso), the widespread parasitic diseases and the poor social status have contributed to maintenance of the wild-type Chit gene.
Genes and Immunity 01/2004; 4(8):570-4. · 3.87 Impact Factor
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ABSTRACT: Human Chitotriosidase (CHIT) is a member of the chitinase family and is synthesized by activated macrophages. Recently, a
genetic polymorphism was found to be responsible for the common deficiency in CHIT activity, frequently encountered in different
population. We analyzed the CHIT gene in some ethnic groups from Mediterranean and frican area, to evaluate whether the CHIT
gene polymorphism correlates with the changes in environmental features and the disappearance of parasitic diseases. We evaluate
the plasma CHIT activity and analyzed, by PCR, the Chit gene polymorphism in 100 Sicilian, 107 Sardinian and 99 Sub-Saharan
subjects. We found an heterozygote frequency for a duplication of 24 base pair in exon 10 of 44,54% in Sicily and 32,71 %
in Sardinia, whereas homozygous chit deficient were 5,45 % and 3,73%, respectively. On the contrary in Burkina Faso, a mesoendemic
regio nforPlasmodium falciparum malaria and other intestinal parasites, a low incidence of CHIT mutation was found (heterozygous 2%) and any subject was
homozygous for CHIT deficiency. Our results suggest that in sub-Saharan population the intact CHIT gene seems essential for
sustaining resistance against chitin-coated parasitic disease, whereas the presence of CHIT gene polymorphism in Mediterranean
population could be the result of a recent positive selection due to improved environmental conditions, which makes prematurely
orphan this enzyme.
Human Evolution 12/2003; 19(1):71-75.
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ABSTRACT: Burkina Faso is one of the Subsaharan African nations. No national services for monitoring of antibiotic resistance are available, so the number of reports of resistance patterns among hospital pathogens are inconsistent. In order to evaluate antibiotic resistance, a total of 1998 valuable microrganisms were analysed during 2000 at the Medical Centre St. Camille of Ouagadougou, Burkina Faso's capital. They were isolated as follows: 1012 from urine-culture, 503 from tonsil swabs, 398 from pus, 53 from sputum and 32 from blood-cultures. Escherichia coli was the most isolated microrganism from urine (44%); Enterococcus faecalis from tonsil swabs (96.4%), Staphylococcus aureus from pus (17%) and K. pneumoniae (70%) from sputum. In general, resistance to the old antibiotics, such as aminopenicillins and cotrimoxazole was shown. The most active antibiotic was norfloxacin, a rarely used antibiotic in this country. In conclusion, our study shows that it is necessary to create antibiotic-resistance surveillance centers in the developing countries to adopt an accurate therapy to avoid exporting of antibiotic resistance to the developed countries linked to increased emigration.
The new microbiologica: official journal of the Italian Society for Medical, Odontoiatric, and Clinical Microbiology (SIMMOC) 08/2003; 26(3):263-8. · 1.00 Impact Factor
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ABSTRACT: The interaction between pro- and anti-inflammatory cytokines such as interleukin 12 (IL-12), interleukin 18 (IL-18) and transforming growth factor beta (TGF-beta) plays an important role in malaria pathogenesis and outcome, modulating the immunoresponse in Plasmodium falciparum malaria. In our previous studies, we analyzed the plasmatic levels of IL-12, IL-18 and TGF-beta in 105 African children with different degrees of malaria and we correlated the production of these cytokines with the severity of the disease. The aim of the present study was to analyze with a mathematical model, taking into account all the relationships between these cytokines and the parameter variations involved in malaria pathogenesis that influence the results of each type of treatment or therapeutic protocol on patients at different stages of the disease. A mathematical correlation was demonstrated between the levels of pro-inflammatory and anti-inflammatory cytokines, and from this it was possible to build curves of reference in which each patient was positioned based on IL-12 level. Our data, obtained in patients with mild and severe diseases, demonstrate that the levels of IL-12 represent a reliable parameter to predict the progression of the disease, which may be complemented or modulated by administration of IL-18 and TGF-beta. Our findings provide future implications for an immune therapy against the P. falciparum malaria infection, especially in the early phase of the disease showing that a more aggressive outcome may be due to the lack of a balanced immune response.
Cytokine 03/2003; 21(4):172-8. · 3.02 Impact Factor
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ABSTRACT: We have studied To study the incidence of hemoglobinopathies (Hb C and Hb S) we have examined in 15,367 students, aged 11.4+/−4.64
years (median 11; range 1–26), living in Burkina Faso (12,019 were students of 23 public schools of Ouagadougou and 3348 students
of 7 public schools situated in six villages about 12–35 Km from Ouagadougou).
In all groups studied, β S and β C gene frequencies were age dependent there was an age dependency of the β S and β C gene
frequencies, since the advantage of HbS carriers in a malarial region is prevalently expressed in the first years of life.
In fact, β C the gene frequency of β C increases, and the β S decreases with age. The Mossi, living prevalently mainly in
Ouagadougou, show a gene frequency which is similar to the Bissa ethnic groups, where the C gene frequencies (0.116 and 0.118)
wereare more higher than the S (0.049 and 0.044 respectively). On the contrary in the Peuhl ethnic group the β C and β S gene
frequencies (0.049 and 0.049) were are the same, while in the Yorouba ethnic group immigrated from Nigeria a prevalence of
β S gene frequency is higher (0.117) than over the β C (0.068)gene frequencies was found in the Yorouba ethnic group, who
is immigrated from Nigeria, showing that different gene frequencies are found in different ethniae ethnic groupscorrespond
to different gene frequencies.
International Journal of Anthropology 03/2002; 17(2):77-89.
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ABSTRACT: Chitotriosidase is a functional chitinase secreted by activated macrophages, which is extremely increased in plasma of patients with Gaucher disease (beta-glucocerebrosidase deficiency). Recently, we found that chitotriosidase plasma levels were increased to a variable extent in Sicilian patients with beta-thalassemia major. The aim of this study is to elucidate the possible mechanisms underlying chitotriosidase overproduction in beta-thalassemia major.
Plasma chitotriosidase was measured in 134 patients with beta-thalassemia major (64 from Sardinia and 70 from Sicily), which are treated chronically by blood transfusions leading to systemic iron overload. They all have peripheral anemia and enormous enlargement of the reticulo-endothelial system.
Plasma chitotriosidase activity was found most frequently elevated among Sardinian (48.4%) than Sicilian (17.1%) patients. In either group, the highest levels of plasma chitotriosidase were observed in patients with the highest degree of iron overload, suggesting that this factor could trigger chitotriosidase overproduction.
The higher rate of subjects with increased plasma chitotriosidase values among Sardinian than Sicilian could be related to distinct molecular basis of beta-thalassemia and environmental features.
Clinica Chimica Acta 05/2001; 306(1-2):91-6. · 2.54 Impact Factor
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Acta Haematologica 02/2001; 105(2):109-10. · 1.35 Impact Factor
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ABSTRACT: To identify the interferon-alpha (IFNalpha) treatment protocol most suitable for patients with thalassaemia major who have chronic hepatitis C.
This was a meta-analysis of studies in the international literature between 1990 and 1999.
Studies were identified from a search of Medline and Embase, and analysed by the Mantel-Haenszel-Peto statistical method.
We identified 6 nonrandomised trials, 2 of which were controlled, that treated a total of 201 patients. Most studies used the lowest dose level (3 MIU/m(2)), all used a thrice-weekly regimen, and most used IFNalpha-2b, although the use of natural IFNalpha did not induce production of anti-interferon antibodies. The best sustained response and remission rates tended to be achieved with higher doses and longer cycles of IFNalpha.
The best interferon-based therapy to treat polytransfused thalassaemic patients with chronic hepatitis C is represented by the use of natural IFNalpha or IFNalpha-2b, initially at high dosages (5 to 10 MIU/m(2) 3 times weekly) for 6 months, followed by lower dosages (3 MIU/m(2) 3 times weekly) for a further 6 to 9 months.
BioDrugs 09/2000; 14(2):137-40. · 3.44 Impact Factor
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Acta Haematologica 02/2000; 104(2-3):148-50. · 1.35 Impact Factor
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Journal of Neurology Neurosurgery & Psychiatry 02/2000; 68(1):104-5. · 4.76 Impact Factor
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ABSTRACT: Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and seizures. Three patients, of 20 months to 12 years of age, were followed up for 3 years both clinically and by using brain magnetic resonance imaging (MRI). Our results suggest that in MPS III patients MRI findings, including atrophy and abnormal or delayed myelination, may precede the onset of overt neurological symptoms. The increasing neurological morbidity is accompanied by different degrees of progressive atrophic changes, mainly affecting the cerebral cortex and the corpus callosum. However, it appears that, across subjects, the rate of MRI changes is unrelated to the severity of the clinical phenotype. On this basis it could be argued that in MPS III the worsening of the neurological symptoms might not necessarily reflect only the progressive cerebral abnormalities detectable by MRI.
Neuropediatrics 11/1999; 30(5):270-4. · 0.94 Impact Factor
