Testing the impact of environmental taxation and IFRS adoption on consumption-based carbon in European countries.

Several governance regulations have been adopted in European countries to promote environmental sustainability, such as environmental taxation and environmental disclosures in financial reports. In this context, this paper examines the linkage between environmental taxation, International Financial Reporting Standards (IFRS), and environmental sustainability in European countries from 1994 to 2018. Unlike earlier empirical studies, the present work is the first to assess the impact of environmental taxation and IFRS adoption on consumption-based carbon emissions. In order to yield valid and reliable outcomes, the modern econometric method that is vigorous to cross-sectional dependence and slope heterogeneity was employed. Likewise, the study uses the novel method of moment quantile regressions (MMQR). The MMQR outcomes illustrated that environmental taxation significantly negatively affects consumption-based emissions in European countries, indicating that environmental taxation has a positive effect on the ecological sustainability. Besides, the findings show that IFRS negatively affects consumption-based emissions, while economic growth positively affects the level of consumption-based emissions. Therefore, European governments must use fiscal and financial policies to mitigate ecological pollution. Moreover, more environmental, social, and governance (ESG) disclosure in European industries could also help promote environmental sustainability in European countries.

Powering environmental sustainability through renewable energy and natural resources: a Dynamic ARDL simulation approach.

The objective of this study is to examine the role of renewable energy consumption and natural resource rents along with control variables of globalization and economic growth on the environmental sustainability of Jordanian economy from 1985 to 2019. These variables have been selected based on theory and empirical literature. We apply a Dynamic Autoregressive Distributed Lag (D-ARDL) technique along with robustness checks of Fully modified OLS (FMOLS), Dynamic OLS (DOLS), and Canonical Cointegrating Regression (CCR) techniques in order to achieve the above goal. The result from the analysis confirms that the environmental Kuznets curve (EKC) is not valid for the Jordan in either long or short term. Our estimation results also confirm the highly significant and negative impact of renewable energy on CO2 emissions in both the long and short term. However, both natural resource rents and globalization are significant and positive in the long run, implying that these variables are detrimental to the environmental quality. The interaction analysis presents detrimental effect of globalization in terms of renewable energy while it shows beneficial effect of globalization in terms of natural resource for environmental quality. The frequency domain causality result shows causality at different frequencies across the variables. Based on the results, several policy directions are provided in order to achieve environmental sustainability in Jordan.

Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis

Objective: Disorders of sexual development (DSD) are a heterogeneous group of genital defects affecting chromosomal, gonadal and anatomical sex. 46,XY DSD is a subset of DSD which covers a wide range of phenotypes in which 46,XY gonadal dysgenesis (GD) is the most severe form. In this study, we report on the clinical and molecular cytogenetic findings of a study on a Tunisian girl with the syndromic form of 46,XY DSD. Methods: This case was a phenotypic female patient having several congenital anomalies including growth retardation. Karyotype, fluorescence in situ hybridization and array Comparative Genome Hybridization (array CGH) were performed. Results: The proband exhibited a de-novo 46,X,der(Y) karyotype. Array CGH revealed a pathogenic 27.5Mb gain of an Xp21.2 chromosome segment leading to Xp functional disomy. No deletion was observed in the Y-chromosome. The duplicated region encompassed the NR0B1 (DAX1) and MAGEB genes, located within the dosage sensitive sex (DSS) reversal locus, known as promote genes responsible for human sex reversal and testis repression. The extra-dosage and interactions of these genes with different specific genes could result in the impairment of the male sex pathway. Over-dosage of KAL1 and IL1RAPL1 genes fall within the somatic features observed in the patient. Conclusion: To the best of our knowledge, we report on the fourth case of Xp21.2-pter duplication within Xp;Yp translocation associated with XY GD. Our findings suggest that when duplicated, the NR0B1 and MAGEB genes could be a major cause of XY GD. Therefore, we emphasize the usefulness of a combined cytogenetic approach in order to provide an accurate genetic diagnosis for those patients having syndromic XY DSD in a clinical setting.

Nonketotic Hyperglycinemia in Tunisia. Report upon a Series of 69 Patients.

AIM: The aim of the study is to report on epidemiological, clinical, and biochemical characteristics of nonketotic hyperglycinemia (NKH) in Tunisia. METHODS: Patients diagnosed with NKH in Laboratory of Biochemistry at Rabta hospital (Tunis, Tunisia) between 1999 and 2018 were included. Plasma and cerebrospinal fluid (CSF) free amino acids were assessed by ion exchange chromatography. Diagnosis was based on family history, patient's clinical presentation and course, and increased CSF to plasma glycine ratio. RESULTS: During 20 years, 69 patients were diagnosed with NKH, with 25 patients originating from Kairouan region. Estimated incidences were 1:55,641 in Tunisia and 1:9,684 in Kairouan. Consanguinity was found for 73.9% of the patients and 42% of the families have history of infantile death due to a disease of similar clinical course than the propositus. Clinical symptoms initiated within the first week of life in 75% of the patients and within the first 3 months in 95.7% ones. The phenotype was severe in 76.8% of the patients. Main symptoms were hypotonia, feeding difficulties, coma, apnea, and seizures. Most patients died within few days to months following diagnosis. CSF to plasma glycine ratio was increased in all patients. CSF and plasma glycine levels were negatively correlated with age of disease onset and severity. CONCLUSION: NKH is quite frequent in Tunisia. Kairouan region has the highest NKH incidence rate, worldwide. However, due to lack of confirmatory enzymatic and genetic tests, NKH diagnosis was based on first-line biochemical tests. Characterization of causal mutations is needed for accurate diagnosis and prenatal diagnosis of this devastating life-threatening disease.

Carbon dioxide emissions, total factor productivity, ICT, trade, financial development, and energy consumption: testing environmental Kuznets curve hypothesis for Tunisia.

The main objective of this study is to examine the linkage between CO2 emissions, total factor productivity as a measure of income, information and communication technology (ICT), trade, financial development, and energy consumption in Tunisia from 1975 to 2014. To achieve this goal, the autoregressive distributed lag (ARDL) with the break point method is performed. The results demonstrate the rejection of the Kuznets environmental curve (EKC) hypothesis by obtaining a higher value of the long-term total factor productivity parameter compared to the short-term one. Moreover, our result shows an insignificant impact of ICT on CO2 emissions as a measure of pollution. In addition, trade, financial development, and energy consumption affect negatively the environmental quality. As a result, Tunisian policymakers should enhance the total factor productivity, expand the information and communication technology, further develop the financial sector, enhance the share of renewable energy consumption, and reduce the energy consumption resulting in import and export goods. These goals will be achieved by improving Tunisia's technological and innovation capacity, enhancing the use of ICT in transport, building, and industry sectors considered as the most pollutant ones, and creating renewable energy projects.

Carbon dioxide emissions, output, and energy consumption categories in Algeria.

This study examines the relation between CO2 emissions, income, non-renewable, and renewable energy consumption in Algeria during the period extending from 1980 to 2011. Our work gives particular attention to the validity of environmental Kuznets curve (EKC) hypothesis. The autoregressive distributed lag (ARDL) with break point method outcome demonstrates the positive effect of non-renewable type of energy on CO2 emissions consumption. On the contrary, the results reveal an insignificant effect of renewable energy on environment improvement. Moreover, the results accept the existence of EKC hypothesis but the highest gross domestic product value in logarithm scale of our data is inferior to the estimated turning point. Consequently, policy-makers in Algeria should expand the ratio of renewable energy and should decrease the quota of non-renewable energy consumption.

Report of the Tunisian Registry of Primary Immunodeficiencies: 25-Years of Experience (1988-2012).

PURPOSE: Primary immunodeficiencies (PIDs) are a large group of diseases characterized by susceptibility to not only recurrent infections but also autoimmune diseases and malignancies. The aim of this study was to describe and analyze the distribution, clinical features and eventual outcome of PID among Tunisian patients. METHODS: We reviewed the record of 710 patients diagnosed with Primary Immunodeficiency Diseases (PIDs) from the registry of the Tunisian Referral Centre for PIDs over a 25-year period. RESULTS: The male-to-female ratio was 1.4. The median age at the onset of symptoms was 6 months and at the time of diagnosis 2 years. The estimated prevalence was 4.3 per 100,000 populations. The consanguinity rate was found in 58.2 % of families. According to the International Union of Immunological Societies classification, spectrums of PIDs were as follows: combined T-cell and B-cell immunodeficiency disorders account for the most common category (28.6 %), followed by congenital defects of phagocyte (25.4 %), other well-defined immunodeficiency syndromes (22.7 %), predominant antibody deficiency diseases (17.7 %), diseases of immune dysregulation (4.8 %), defect of innate immunity (0.4 %) and complement deficiencies (0.4 %). Recurrent infections, particularly lower airway infections (62.3 %), presented the most common manifestation of PID patients. The overall mortality rate was 34.5 %, mainly observed with combined immunodeficiencies. CONCLUSION: The distribution of PIDs was different from that reported in Western countries, with a particularly high proportion of Combined Immunodeficiencies and phagocyte defects in number and/or function. More is needed to improve PID diagnosis and treatment in our country.

Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.

BACKGROUND: Primary distal renal tubular acidosis (dRTA) caused by mutations in the genes that codify for the H + -ATPase pump subunits is a heterogeneous disease with a poor phenotype-genotype correlation. Up to now, large cohorts of dRTA Tunisian patients have not been analyzed, and molecular defects may differ from those described in other ethnicities. We aim to identify molecular defects present in the ATP6V1B1, ATP6V0A4 and SLC4A1 genes in a Tunisian cohort, according to the following algorithm: first, ATP6V1B1 gene analysis in dRTA patients with sensorineural hearing loss (SNHL) or unknown hearing status. Afterwards, ATP6V0A4 gene study in dRTA patients with normal hearing, and in those without any structural mutation in the ATP6V1B1 gene despite presenting SNHL. Finally, analysis of the SLC4A1 gene in those patients with a negative result for the previous studies. METHODS: 25 children (19 boys) with dRTA from 20 families of Tunisian origin were studied. DNAs were extracted by the standard phenol/chloroform method. Molecular analysis was performed by PCR amplification and direct sequencing. RESULTS: In the index cases, ATP6V1B1 gene screening resulted in a mutation detection rate of 81.25%, which increased up to 95% after ATP6V0A4 gene analysis. Three ATP6V1B1 mutations were observed: one frameshift mutation (c.1155dupC; p.Ile386fs), in exon 12; a G to C single nucleotide substitution, on the acceptor splicing site (c.175-1G > C; p.?) in intron 2, and one novel missense mutation (c.1102G > A; p.Glu368Lys), in exon 11. We also report four mutations in the ATP6V0A4 gene: one single nucleotide deletion in exon 13 (c.1221delG; p.Met408Cysfs*10); the nonsense c.16C > T; p.Arg6*, in exon 3; and the missense changes c.1739 T > C; p.Met580Thr, in exon 17 and c.2035G > T; p.Asp679Tyr, in exon 19. CONCLUSION: Molecular diagnosis of ATP6V1B1 and ATP6V0A4 genes was performed in a large Tunisian cohort with dRTA. We identified three different ATP6V1B1 and four different ATP6V0A4 mutations in 25 Tunisian children. One of them, c.1102G > A; p.Glu368Lys in the ATP6V1B1 gene, had not previously been described. Among deaf since childhood patients, 75% had the ATP6V1B1 gene c.1155dupC mutation in homozygosis. Based on the results, we propose a new diagnostic strategy to facilitate the genetic testing in North Africans with dRTA and SNHL.

Evaluation of an enzyme-linked immunosorbent assay based on crude Leishmania histone proteins for serodiagnosis of human infantile visceral leishmaniasis.

Human visceral leishmaniasis (VL) is routinely diagnosed by detecting IgG that specifically binds to Leishmania antigens. The enzyme-linked immunosorbent assay (ELISA) remains a widely used method. However, the biggest challenge remains the choice of antigen with the highest specificity and sensitivity. This study is aimed at assessing the diagnostic performances of crude Leishmania histone (CLH) protein-based ELISAs in Mediterranean VL patients. The CLH proteins were biochemically purified from promastigote nuclear extracts. Their reactivities were analyzed by Western blotting (WB) using rabbit polyclonal antibodies against Leishmania recombinant histones and sera from VL patients, respectively. Then, the diagnostic potential of CLH proteins was validated by the CLH-based ELISA using 42 infantile VL patients' sera and 70 control subjects. The CLH-based ELISA performance was compared to that of the soluble Leishmania antigen (SLA)- and the recombinant K39 (rK39)-based ELISAs. Analysis of the WB profile with the use of polyclonal antibodies confirmed the histone origin of low molecular mass proteins (12 to 16 kDa). All VL samples tested presented antibodies reacting against different antigen fractions; however, recognition patterns were different depending on the reactivity of each serum. CLH-based ELISA showed an excellent ability to discriminate between VL cases and healthy controls (97.6% sensitivity and 100% specificity). It had a diagnostic performance similar to that of rK39-based ELISA (97.6% sensitivity and 97.1% specificity, P = 0.5) and a better serodiagnosis accuracy than the SLA-based ELISA (85.7% sensitivity and 90% specificity, P < 0.05). Therefore, crude Leishmania histone extract could be a valuable antigen for clinical use.

[Acute polyradiculoneuropathy in children: the Kairouan pediatric department experience. Report of 22 cases]. / Syndrome d'obésité hypoventilation et syndrome d'apnées de sommeil : quel type d'association?

BACKGROUND: Guillain-Barre Syndrome (GBS) is an acute polyradidulonevritis which is primitive inflammatory and demyelinisant. It represents the most frequent cause of acute peripheric paralysis of the child. AIM: To study the epidemiologic, clinic, electromyographic, outcome and therapeutic features of this disease. METHODS: 22 cases of GBS were reported in the pediatric department of Ibn El Jazzar's hospital of Kairouan from January 1990 to September 2009. RESULTS: The GBS represents a hospital frequency of 0.45 %o . The mean age of the patients was 6.88 years with a sex ratio of 1.2. The prodromic infectious manifestations were observed in 54.5% of cases. The clinic symptomatology was the muscular deficiency observed in all cases with absence of deep reflex an albumincytologic dissociation was observed in 12 cases. The electromyographic manifestations were: an axonal disorder in four cases, axonomyelinic in eight cases and myelinic in seven cases. A specific therapy by intravenous polyvalent immunoglobulin was prescribed for 14 patients. The evolution was favourable in 10 cases with total recovery three cases of drop foot gait were observed, seven patients were lost to follow up and two patients are dead. CONCLUSION: GB syndrome is the most frequent cause of child acute primitive distal paralysis, since acute polio has been eradicated. Acute Respiratory disorder is the most severe complication this syndrome can lead to in 5% of cases. The course of the disease is often mild and severe scars are only encountered in 5 to 10 % of cases. Indeed, the use intravenous immunoglobulin has utterly changed prognosis.

Diagnosis of mediterranean visceral leishmaniasis by detection of leishmania antibodies and leishmania DNA in oral fluid samples collected using an Oracol device.

Current methods for diagnosis of visceral leishmaniasis (VL) require invasive sampling procedures such as visceral aspiration and/or blood drawing. The use of diagnostic tests using oral fluid, which is easier to collect, would be more simple and practical for VL diagnosis, especially under field conditions. Oral fluids from 37 VL patients and 40 healthy controls were collected using Oracol devices. Blood samples and oral fluid specimens from both groups were analyzed by recombinant protein K39 (rK39) enzyme-linked immunosorbent assay and quantitative real-time PCR. Detection of antibodies in the oral fluid had a sensitivity of 100% and a specificity of 97.5%. Antibody levels measured in serum and oral fluid showed a significant positive correlation (ρ = 0.655 and P = 0.01). Detection of Leishmania DNA in oral fluid had a sensitivity of 94.6% and a specificity of 90%. The median parasite load estimated in blood was 133 parasites/ml (interquartile range [IR], 10 to 1,048), whereas that in oral fluid specimens was 3 parasites/ml (IR, 0.41 to 92). However, there was no significant linear relationship between parasite loads assessed in the two biological samples (ρ = 0.31 and P = 0.06). VL diagnosis based on specific antibody detection and Leishmania DNA identification using oral fluid samples was equivalent in accuracy to that using blood and therefore is promising for clinical use.

Contribution of laparoscopy in the abdominal tuberculosis diagnosis: retrospective study of about 11 cases.

OBJECTIVE: Abdominal tuberculosis is one of the most frequent extra-pulmonary localizations. Its diagnosis is difficult and may lead to a delayed prescription of specific treatment. This study is aimed at stressing the role of laparoscopy associated with a biopsy in the diagnostic confirmation of abdominal tuberculosis particularly in doubtful cases. METHODS: The diagnostic features of 11 cases hospitalized for abdominal tuberculosis in the Paediatric Surgery Department of Fattouma Bourguiba Hospital in Monastir for a 6-year period (2001-2006), were evaluated retrospectively. The diagnosis of abdominal tuberculosis was substantiated histopathologically by laparoscopy in all cases. The epidemiological and clinical characteristics along with the laboratory, radiological and histological data were studied. RESULTS: Eleven cases of abdominal tuberculosis with a mean age of 5.6 years were diagnosed. It was peritoneal tuberculosis in all cases and associated with intestinal localization in one case. A conversion to laparotomy was practiced in three patients: appendicular plastron in one case, pseudo-tumor aspect of an intestinal loop in another case and because of their pathological aspect appendicectomy and caecum biopsy in the third. The diagnosis was confirmed histologically by biopsies in nine cases and on excision pieces in the other two cases. All patients had an uneventful course with an antituberculosis treatment. CONCLUSION: Abdominal tuberculosis is still frequent in Tunisia. Because of its non-specific clinical presentation and the limited means of investigation, a laparoscopy with biopsy should be practiced as first line diagnostic tool in case of doubtful abdominal tuberculosis. The earlier the diagnosis is established and an adapted antituberculosis treatment is started, the better the prognosis is.

Short report: Contribution of quantitative real-time polymerase chain reaction to follow-up of visceral leishmaniasis patients treated with meglumine antimoniate.

Forty-two patients with visceral leishmaniasis in Tunisia were treated with meglumine antimoniate and followed-up for clinical improvement and blood parasite load determined by quantitative real-time polymerase chain reaction (PCR). Parasite loads before treatment ranged from 27 to 5.3 x 10(7) parasites/mL. At the end of treatment, parasite load decreased significantly in 39 cured patients (P < 0.001). The decrease in parasite load after treatment was greater than 99% for 34 patients and PCR results became negative in 23 of them. Two patients without clinical improvement showed no or slight decreases in parasite load (209 versus 202 parasites/mL and 1,765 versus 146 parasites/mL). One patient showed had a relapse seven months after showing a good response to treatment. His parasitemia remained high despite a sharp decrease (5.2 x 10(5) versus 5.9 x 10(3) parasites/mL).

Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report.

BACKGROUND: AATD is one of the most common inherited disorders in the World. However, it is generally accepted that AATD in North African populations is not a risk factor for lung and/or liver disease, based on a number of small studies. We therefore planned a screening study for detection of AATD in patients with OLD in a cohort of patients from Kairouan in central Tunisia. METHODS: One hundred twenty patients with OLD (asthma, emphysema, COPD) were enrolled in the screening programme. Laboratory diagnosis for AATD was performed according to current diagnostic standards. RESULTS: We found that 6/120 OLD patients carried an AAT deficient allele, 1 PI*MZ, 1 PI*MPlowel, 3 PI*MMmalton, 1 PI*MMwurzburg. CONCLUSION: this pilot study demonstrated that alleles related to deficiency of AAT are not absent in the Tunisian population, and that rare AATD variants prevailed over commonest PI*Z variant. These results would support a larger scale screening for AATD in Tunisia.

[Primary hyperoxaluria in children in central Tunisia]. / Hyperoxalurie primitive chez l'enfant au centre Tunisien.

AIM: The goal of this work is to analyze clinical and therapeutics particularities of primary hyperoxaluria in children in Tunisian centre. METHODS: We studied retrospectively 15 cases of primary hyperoxaluria enrolled during 9 years period (1994-2002). RESULTS: It is about 2 boys and 13 girls (sex - ratio = 4.5) aged 2 month to 13 years (mean age: 4 years). Six patients presented the infantile form and nine the juvenile form of HP. At the moment of diagnosis, renal function was normal in one patient, moderately altered in another and severely altered in the other patients. All patients had nephrocalcinosis and 6 among them radio-opaque renal calculi associated. Diagnosis of HP was established in 11 cases by hyperoxaluria and/or important hyperoxalemia or on the data of the renal biopsy and biochemical analysis of renal calculi in 4 cases. The so-called "maghrebin" mutation (Ile244Thr) sought-after in 9 children, has cannot be identified that in 2 among them. Eight patients died of the continuations of their illness. The seven other patients again in life present a terminal renal insufficiency treated by haemodialysis. No patient could benefit from organ transplantation. CONCLUSION: Primary hyperoxaluria is a very heterogeneous disease on the plan clinic that genetic. In Tunisia where it constitutes a frequent cause of end stage renal failure, prenatal diagnosis of this disease is of a big interest.

Screening by anti-endomysium antibodies for celiac disease in Tunisian children with type 1 diabetes mellitus.

AIM: Celiac disease (CD) and type 1 diabetes mellitus (DM1) can frequently coexist, presumably due to a common genetic predisposition. The present study was designed to evaluate the frequency of CD among Tunisian children with DM1. PATIENTS AND METHODS: A total of 205 diabetic children (92 girls, 113 boys, age range 6 months-15 years, median 11 years) were screened for CD by determination of IgA anti-endomysium antibodies (EMA). RESULTS: EMA were positive in 17 out of 205 (8.3%) children with DM1. The median age of DM1 at onset was significantly lower in patients with EMA than those without EMA (P<10(-7)). In 13 of 17 EMA-positive patients, duodenal biopsy could be performed and a destructive type of CD was confirmed in 11 of them: 8 patients showed total villous atrophy, 3 patients showed a partial villous atrophy. The other two patients showed a normal histological picture with normal number of intraepithelial lymphocytes. Parents of the remaining EMA-positive children refused endoscopy. Thus the prevalence of biopsy-proven CD was 5.3% (11/205). It was 7.6% (7/92) in girls and 3.5% (4/113) in boys but the difference was not statistically significant. Seventy three percent of patients with CD were asymptomatic. CONCLUSIONS: The prevalence of clinically unrecognized CD, found by EMA screening, is high in Tunisian children with DM1. We suggest that children with diabetes should be screened for CD.

[Clinical features and course of Kawasaki disease in central Tunisia: a study about 14 cases collected over a period of three years (2000-2002)]. / La maladie de Kawasaki au centre Tunisien: aspects cliniques et évolutifs de 14 cas colligés en trois ans (2000-2002).

OBJECTIVE: To analyze the clinical features and course of Kawasaki disease in central Tunisia. We studied retrospectively 14 cases of children with Kawasaki disease collected in tunisian center during three years (2000-2002). The study is about 11 boys and 3 girls (sex - ratio: 3.6/1) aged from 6 months to 8 years (mean age : 4 years). Twelve patients had at least 5 diagnostic criteria of the illness, the two others had an incomplete form. We noted cardiac complications in seven patients treated belatedly, beyond 10 days of progression, because of atypical clinical presentations. All patients had all a middle caliber coronary aneurysm that was complicated by a thrombus in three cases, associated with pericarditis and minimal mitral insufficiency in a case and with a cardiac rhythm disturbance (block of branch) in another case. Besides the cardiac complications, several other visceral manifestation could be noted: joint symptoms in five cases, GI tract symptomes in three cases, neuro-meningeal in two cases and urinary trad symptomes in two other cases. Specific treatment (aspirin with antiinflammatory dose and intravenous immune globulin (IVIG)) has been instituted in all patients. The course was favorable for 12 patients with fast regression of clinical manifestation and progressive normalisation of biologic values. Two patients did not respond to the initial IVIG treatment, and had to recense received an additional course of IGIV but without clinical nor biological improvement. These two patients were treated with corticosteroids. Cardiac lesions disappeared completely in all patients even for those with thrombosis and in patients with IVIG-resistant Kawasaki disease. Only one patient had kept neurologic sequellae: aphasia, bevavioral problemes and partial epilepsy. CONCLUSIONS: Kawasaki disease is not rare in our region. Incomplete or atypical presentations are frequent and are a source of diagnostic delay. Coronary aneurysm due to the delay of treatment often regresses even in patients with IVIG-resistant Kawasaki disease.

[Visceral leishmaniasis in children: prognostic factors]. / La leishmaniose viscérale chez l'enfant: facteurs pronostiques.

The morbidity and death rate of visceral leishmaniasis (VL) is important. The aim of our study is to find prognosis factors of VL. Two hundred and thirty two children with VL were retrospectively studied. These children were followed in Rabta and Kairouan hospitals between 1985 and 1998. We identify 7 prognosis factors, at the hospital admission, visit delayed more than 56 days, fever during more than 21 days, normal or low temperature, haemorrhagic syndrome hemoglobin rate < 5.5 g/dl, sedimentation rate < 25 mm and hypoalbuminaemia < 30 g/l. The presence of one prognosis factors or more appears to consider amphotericin B as a first-line treatment.

Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations.

Fanconi anemia (FA) is a rare autosomal recessive disease characterized by progressive pancytopenia, congenital malformations, and predisposition to acute myeloid leukemia. Fanconi anemia is genetically heterogeneous, with at least eight distinct complementation groups of FA (A, B, C, D1, D2, E, F, and G) having been defined by somatic cell fusion studies. Six genes (FANCA, FANCC, FANCD2, FANCE, FANCG, and FANCF) have been cloned. Mutations of the seventh Fanconi anemia gene, BRCA2, have been shown to lead to FAD1 and probably FAB groups. In order to characterize the molecular defects underlying FA in Tunisia, 39 families were genotyped with microsatellite markers linked to known FA gene. Haplotype analysis and homozygosity mapping assigned 43 patients belonging to 34 families to the FAA group, whereas one family was probably not linked to the FANCA gene or to any known FA genes. For patients belonging to the FAA group, screening for mutations revealed four novel mutations: two small homozygous deletions 1693delT and 1751-1754del, which occurred in exon 17 and exon 19, respectively, and two transitions, viz., 513G-->A in exon 5 and A-->G at position 166 (IVS24+166A-->G) of intron 24. Two new polymorphisms were also identified in intron 24 (IVS24-5G/A and IVS24-6C/G).

Comparative evaluation of ELISAs based on ten recombinant or purified Leishmania antigens for the serodiagnosis of Mediterranean visceral leishmaniasis.

This study compared a panel of 10 enzyme-linked immunosorbent assays (ELISAs) for the serodiagnosis of Mediterranean visceral leishmaniasis (MVL). The ELISAs were based on either one of the following Leishmania antigens: crude soluble Leishmania antigens (SLAs), recombinant (r) antigens (namely: rgp63, rK39, gene B protein, r H2A and r H2B histones proteins, rLACK, rPSA-2, r P20) and purified lipophosphoglycan. Most of the test antigens showed good performance (sensitivity > 85%, specificity > 80%). rK39 and SLA-based ELISA gave the best results in terms of sensitivity (100%) and predictive value of the negative (100%). The best specificity (97%) and the best predictive value of the positive (92%) were obtained with rK39. These results show that several Leishmania antigens are suitable to design a diagnostic ELISA of MVL. However, recombinant proteins add little to the classic crude SLA, which still represents a very good and less costly alternative.