Adil Mergani

Invited Papers.- The Metalanguage ?prolog and Its Implementation.- A Scalable Architecture for Proof-Carrying Code.- Parameterized Logic Programs where Computing Meets Learning.- Functional Programming.- Proving Syntactic Properties of Exceptions in an Ordered Logical Framework.- A Higher-Order Colon Translation.- Compiling Lazy Functional Programs Based on the Spineless Tagless G-machine for the Java Virtual Machine.- Logic Programming.- A Higher-Order Logic Programming Language with Constraints.- Specifying and Debugging Security Protocols via Hereditary Harrop Formulas and ?Prolog ? A Case-study ?.- An Effective Bottom-Up Semantics for First-Order Linear Logic Programs.- Functional Logic Programming.- A Framework for Goal-Directed Bottom-Up Evaluation of Functional Logic Programs.- Theoretical Foundations for the Declarative Debugging of Lazy Functional Logic Programs.- Adding Linear Constraints over Real Numbers to Curry.- A Complete Selection Function for Lazy Conditional Narrowing.- An Abstract Machine Based System for a Lazy Narrowing Calculus.- Incremental Learning of Functional Logic Programs.- Types.- A General Type Inference Framework for Hindley/Milner Style Systems.- Monadic Encapsulation with Stack of Regions.- Well-Typed Logic Programs Are not Wrong.- Program Analysis and Transformation.- A Framework for Analysis of Typed Logic Programs.- Abstract Compilation for Sharing Analysis.- A Practical Partial Evaluator for a Multi-Paradigm Declarative Language.- A Simple Take on Typed Abstract Syntax in Haskell-like Languages.- Calculus.- A simply typed context calculus with first-class environments.- Refining the Barendregt Cube using Parameters.

Background: Vitamin D plays a role in critical cellular processes such as apoptosis, cell development, and division. The Fok1 polymorphism in the VRD gene is T/C resulting in larger vitamin D receptor protein with lesser expression activity. Fok1 polymorphism is thought to be linked to many diseases including diabetes mellitus, cancers, and rheumatoid arthritis. The snipe also provides effective and sensitive diagnostic and predictive tools and affected by differences in ethnicity and individuals' life style. This study reports on the frequency and distribution of Fok1 SNP among healthy Sudanese transplantation donors. Method: This cross sectional study was conduct in National Cancer Institute University of Gezira, Sudan. One hundred and forty six healthy Sudanese transplantation donors were enrolled in this study. Two ml of venous blood was collected from each participant and stored at -20 till DNA extraction. Qaigen kit was used for DNA extraction. VDR Fok1 was genotyped by CT...

Introduction: Malaria parasite resistant to Chloroquine poses severe and increasing health problems in tropical countries. Monitoring the drug resistance by implementing the molecular markers may be essential to overcome the problem, therefore this study aims to assess the Chloroquine resistance of Plasmodium Falciparum parasite in central Sudan, using molecular markers. Methods: One hundred and seventy six patients were confirmed P. falciparaum positive. Sixty-four were selected and only forty patients completed the follow-up. In vivo sensitivity assay was used accompanied with standard regimen of Chloroquine phosphate. DNA was extracted from blood on filter paper (day 0) and was used to amplify two genes P. Falciparum transporters gene Pfcrt and multi-drug resistant gene-1 Pfmdr-1. Results: Among forty patients, 54% responded to Chloroquine regimen with adequate clinical response (ACR), however, 46% showed treatment failure. All treatment failures were treated with Artemether or Quinine. The amplification of Pfcrt gene (n, 18) and Pfmdr 1 gene (n, 29), had shown that 72% of Pfcrt T76 were mutant allele, 22% were K76 wild-type, however, only 5% were mixed alleles T/K. while Pfmdr 1 gene (n, 29) revealed that 55% were wild genotype N 86, 38% were mutant Y 86, and 7% were mixed alleles Y/ N 86. Conclusion: The high frequency of the mutant Pfcrt 76T gene among P. Falciparum isolates was consistent with in vivo study supports the hypothesis that Pfcrt 76T gene could be used as predictive marker for Chloroquine susceptibility in epidemiological surveys. Key words: P. Falciparum , drug resistance, in vivo , PFCRT, PFMDR 1and RFLP

Malaria parasite resistant to chloroquine poses severe health prob- lems in tropical countries, Molecular markers for monitoring the drugs resistance may be essential to overcome the problem. Forty patients out of 176 were completed in vivo sensitivity assay. The DNA was used to assess the prevalence of mutations of chloroquine resistance P. falciparum strains Pfcrt K76T, Pfmdr-1, N86Yand the prevalence of mutation of sulfadoxine-pyrimethamine strains dhfr and dhps genes. Twenty two (54%) responded very well to chloroquine regimen with adequate clinical response (ACR), however, 18/40 (46%) were found to be chloroquine resistant. The in vitro assay showed that 32 (80%) of the isolates were resistant to Chloroquine. Thirteen (72%) isolates have shown mutation in Pfcrt T76, and 4 (22%) have the wild-type of Pfcrt K76, however, only 5% has mixed alleles of wild and mutant genotype Pfcrt T/K. Screening of the mutations of Pfmdr 1 Y86N revealed that 16 (55%) having the wild genotype, 11 (...

Different population distribution of 27 bp-VNTR in intron4 of eNOS gene polymorphism and its association with predisposition of certain diseases may be of geographical and ethnical important. In this study we investigated distribution of 27 bp-VNTR in intron4 of eNOS gene polymorphism in Turabah population. Genotyping of eNOS VNTR was done by PCR in 225 unrelated individuals from population living in Turabah province. The allele/and genotype frequencies of the polymorphism were tested for Hardy-Weinberg equilibrium (WBE) and compared to two Arabic populations (Egyptian and Tunisians) using Chi Square Goodness-of-Fit test. The study revealed that; the alleles and genotypes distribution of eNOS VNTR 27-bp polymorphism showed a significant difference from these expected frequencies indicating that the population is not in Hardy-Weinberg equilibrium. comparing alleles and genotypes frequencies in study population with those of Tunisian and Egyptian populations had demonstrated significa...

BACKGROUND & OBJECTIVES Cerebral malaria is considered a leading cause of neuro-disability in sub-Saharan Africa among children and about 25% of survivors have long-term neurological and cognitive deficits or epilepsy. Their development was reported to be associated with protracted seizures, deep and prolonged coma. The study was aimed to determine the discharge pattern and to identify potential and informative predictors of neurological sequelae at discharge, complicating childhood cerebral malaria in central Sudan. METHODS A cross-sectional prospective study was carried out during malaria transmission seasons from 2000 to 2004 in Wad Medani, Sinnar and Singa hospitals, central Sudan. Children suspected of having cerebral malaria were examined and diagnosed by a Pediatrician for clinical, laboratory findings and any neurological complications. Univariate and multiple regression model analysis were performed to evaluate the association of clinical and laboratory findings with occurr...

Different population distribution of 27 bp-VNTR in intron4 of eNOS gene polymorphism and its association with predisposition of certain diseases may be of geographical and ethnical important. In this study we investigated distribution of 27 bp-VNTR in intron4 of eNOS gene polymorphism in Turabah population. Genotyping of eNOS VNTR was done by PCR in 225 unrelated individuals from population living in Turabah province. The allele/and genotype frequencies of the polymorphism were tested for Hardy-Weinberg equilibrium (WBE) and compared to two Arabic populations (Egyptian and Tunisians) using Chi Square Goodness-of-Fittest. The study revealed that; the alleles and genotypes distribution of eNOS VNTR 27-bp polymorphism showed a significant difference from these expected frequencies indicating that the population is not in Hardy-Weinberg equilibrium. comparing alleles and  genotypes frequencies in study population with those of Tunisian and Egyptian populations had demonstrated significa...

Objectives: 1-To evaluate the effect of Praziquantel (PZQ) therapy on the regression of liver fibrosis in an endemic population. 2-To determine the factors controlling the regression of hepatic fibrosis (e.g. gender, age and grade of fibrosis). Material and methods: An association study of a cohort of one hundred seventy seven Sudanese patients infected with Schistosoma mansoni (82 males 46%, 95 females 54%) was conducted to evaluate the factors controlling the regression of liver fibrosis 39 months after treatment with PZQ using ultrasound evaluation. SPSS (Statistical Package for Social Science) software was used for statistical analysis. Chi- Square was used to compare the two phenotypes (regression and progression) in the study subjects. Results: PPF was regressed in 63 patients (36%) from higher grades of fibrosis to lower ones. While in 24 patients (13 %) the disease progressed to higher grades. In addition, the grade of PPF did not change in 90 patients (51%).  The mean value...

Type 2 diabetes mellitus is characterized by chronic hyperglycemia and associated with oxidative stress resulting from accumulation of free radicals in body's tissues, which especially affects beta cells in pancreas and is an important factor in the development of diabetes and its complications. Glutathione S-transferases (GSTs) are a family of antioxidant enzymes that play important roles in decreasing ROS species and act as a kind of antioxidant defense. In a case-control study, we investigated the role of GSTP1 Ile105Val polymorphism in predisposition to T2DM in patients from Tarabah province, Saudi Arabia. The polymorphism was screened by PCR-RFLP in 90 T2DM patients and 87 healthy controls. The genotypes and alleles frequencies in cases and controls were assessed using Cochran-Armitage trend test and odds ratios (ORs), and 95 % confidence intervals (CIs) in different genetic models of inheritance were calculated. Our data indicate that G allele (Val) is associated with an i...

Interleukin (IL)-22 acts on epithelia, hepatocytes, and pancreatic cells and stimulates innate immunity, tissue protection, and repair. IL-22 may also cause inflammation and abnormal cell proliferation. The binding of IL-22 to its receptor is competed by IL-22 binding protein (IL-22BP), which may limit the deleterious effects of IL-22. The role of IL-22 and IL-22BP in chronic liver diseases is unknown. We addressed this question in individuals chronically infected with schistosomes or hepatitis C virus (HCV). We first demonstrate that schistosome eggs stimulate production of IL-22 transcripts and inhibit accumulation of IL22-BP transcripts in schistosome-infected mice, and that schistosome eggs selectively stimulate production of IL-22 in cultures of blood leukocytes from individuals chronically infected with Schistosoma japonicum. High IL-22 levels in cultures correlated with protection against hepatic fibrosis and portal hypertension. To test further the implication of IL-22/IL-22BP in hepatic disease, we analyzed common genetic variants of IL22RA2, which encodes IL-22BP, and found that the genotypes, AA, GG of rs6570136 (P 5 0.003

An association study of a cohort of 177 Sudanese patients infected with Schistosoma mansoni [82 (46%) males and 95 (54%) females] was conducted to evaluate the factors controlling the regression of liver fibrosis 39 months after treatment with praziquantel using ultrasound evaluation. Periportal fibrosis (PPF) was regressed in 63 (35.6%) patients, while the disease progressed to higher grades in 24 (13.6%) patients. The grade of PPF did not change in 90 (50.8%) patients. The mean values of portal vein diameter, splenic vein diameter and index liver size in subjects in whom PPF regressed after treatment were significantly lower than in subjects in whom the disease was progressed (P o 0.0001, P = 0.031 and P = 0.003, respectively). The progression of hepatic fibrosis in males (15, 8.5%) was greater than that in females (9, 5.1%). Patients with regression or progression phenotypes tend to cluster in certain families. Our study indicated that regression, progression and stabilization of PPF after praziquantel therapy is controlled by gender, age, grade of fibrosis and possibly inherited factors.

Epidemiological studies in the developing world are frequently biased by the simultaneous presence of several infectious pathogens. In the present study, we examined the usefulness of circulating markers of oxidative stress and liver fibrosis to investigate the distinct forms of chronic liver inflammations associated with schistosomiasis and viral hepatitis, respectively. The study was performed in a Sudanese population exposed to Schistosoma. Circulating hyaluronic acid (HA) was used as a marker of liver fibrosis; the severity of schistosomiasis was determined by ultrasonic examination; viral hepatitis infection was ascertained by circulating anti-hepatitis antibodies. Serum markers were examined also in Sudanese subjects not exposed to Schistosoma infection and in French control subjects. We found a drastic decrease of lycopene levels in the subjects exposed to schistosomiasis in comparison with non-exposed Sudanese and French control subjects. Retinol,-tocopherol and five carotenoids were unchanged. Lycopene depletion was unlikely to be due to variations of nutritional origin, since the lycopene/-carotene ratio was five-fold lower in the population at risk of schistosomiasis than in the other groups. We found that high HA serum levels were associated with severe periportal fibrosis but not with viral infection. Conversely, levels of the oxidized lipid malondialdehyde (MDA) were associated with viral infection but not with the severity of schistosomiasis, even though the two infections had additive effects. We concluded that serum markers are valuable tools for investigating the complex effects of co-existing factors of chronic liver inflammation.

The main objective of this study is to provide a database for renal transplantation in Sudan and to determine the HLA antigens and haplotype frequencies (HFs) in the study subjects. HLA typing was performed using the complement-dependant lymphocytotoxicity test in 250 unrelated healthy individuals selected as donors in the Sudanese Renal Transplantation Program. Considerable polymorphism was observed at each locus; A2 (0.28), A30 (0.12), A3 (0.09), A24 (0.09), A1 (0.09), and A68 (0.06) were the most frequent antigens in the A locus, while B51 (0.092), B41 (0.081), B39 (0.078), B57 (0.060), B35 (0.068), B 50 (0.053) and B 52 (0.051) were the most common B locus antigens. DR13 (0.444) and DR15 (0.160) showed the highest antigen frequencies (AFs) in the DR locus. In the DQ locus, DQ1 showed the highest gene frequency (0.498), while DQ2 and DQ3 AFs were (0.185) and (0.238), respectively. The most common HLA-A and-B haplotypes in positive linkage disequilibrium were A24, B38; A1, B7; and A3, B52. The common HLA-A and-B HFs in positive linkage disequilibrium in the main three tribe-stocks of the study subjects (Gaalia, Nile Nubian and Johyna) were A24, B38 for Gaalia; A24, B38 and A2, B7 for Johyna; and A2, B64 and A3, B53 for Nile Nubian. These results suggest that both class I and class II polymorphisms of the study subjects depict considerable heterogeneity, which reflects recent admixture of this group with neighboring Arabs and African populations.

Lethal disease in Schistosoma mansoni infections is mostly due to portal hypertension caused by hepatic periportal fibrosis. To evaluate the factors that may determine severe disease, livers and spleens were examined by ultrasound in a Sudanese population living in a village where S. mansoni is endemic. Early (FI), moderate (FII), or advanced (FIII) fibrosis was observed in 58%, 9%, and 3% of the population, respectively. Although FI affected 50%–70% of the children and adolescents, FII prevalence was low in subjects 20 years old but increased sharply (45%–58%) in men 21–30 years old and was associated with the highest infections. Portal and splenic vein diameters were increased in one-third of persons with FII and in almost all with FIII disease. Severe disease, FII or FIII with portal hypertension, affected 6% of the population, was associated with splenomegaly, occurred mostly in adult men, and was clustered in a few pedigrees. These observations suggest that infection intensity and duration, gender-related factors, and inherited factors are important in fibrosis development.

Background:Both SCD and autoimmunity are chronic disorders, they share a number of co mmon clinical man ifestations which may lead to delay or miss in the diagnosis at the time of coexistence. The objective of this study was to find out the frequency of anti-dsDNA in homo zygous SCD patients in Sudan. Methods: A total of 100 SCD HbSS patients of were studied. CBC was performed and the patients plasma was screened for the presence of ANA, All positive samp les were further tested for the presence of anti-dsDNA. Results: ANA was found in (17.3%) of patients compared to (2.5%) of control group, the females showed dominance in positivity (70.6%). Three patients (3.1%) were positive to anti-dsDNA, none of the control were positive for antibodies to dsDNA. Conclusions: Patients autoantibodies positivity was found to be higher than the control group. These findings can be striking, especially since there was no epidemio logical study published before in Sudan to determine the frequency of ANA and anti-dsDNA among SCD patients, as far as we know. Careful attention must be taken by the physicians especially when unusual clinical sympto ms appear during the follow up of patients to avoid neglecting the diagnosis of the underlying disease.

AbSTRACT Malaria parasite resistance to chloroquine poses a severe and increasing health problem in tropical countries. Implementing molecular markers for monitoring the drug resistance may be essential to overcome the problem. The aim of the present study is to investigate the prevalence of multi-drug resistance of p. falciparum parasite in malaria patients. Blood samples for DNA extraction were collected from the positive malaria patients. The prevalence of mutations in P. falciparum multi-drug resistant gene-1 (pfmdr-1) was detected by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) methods. Approximately, 74.1% of study populations are adults and 25.9% are children. Regression analysis shows a decrease in malaria incidence with increasing age. The prevalence of malaria is higher in males (58.6%) compared to females (41.4%). There were no statistical differences between malaria incidence and the socioeconomic level within the study population. The frequency of homozygous N/86 and Y/86 alleles were 51.7% and 37.9%, respectively, and the heterozygous N/Y86 allele was 10.3%. In conclusion the frequency of Pfmdr-1 N/Y86 allele among P. falciparum multi-drug resistant isolates support the hypothesis that Pfmdr-1 N/Y86 allele could be used as predictive marker to monitor multi-drug susceptibility in epidemiological surveys.

Up to 500 millions are affected by malaria parasite each year and only 1% of them develop severe clinical forms of the disease. No full satisfactory explanation for the fact that only small proportion of malaria infected individuals develops severe clinical phenotypes while others don't. The aims of the present study is to assess the role of TNF-α-308 G>A in predisposing to cerebral malaria in children in Central Sudan. 109 children admitted with cerebral malaria (CM) were enrolled in this study (Mean age 6.1± 3.3 years old). The onset of cerebral malaria in the study subjects started in the first two years of life with no gender effect and the highest incidence of the disease was at the age group (4-6 years old). The allele frequencies in control group (n= 109) were 0.91 for TNFα-308G (TNF1) and 0.09 for TNFα-308A (TNF2) and the allele frequencies in 93 CM subjects were 0.95 for TNFα-308G (TNF1) and 0.05 for TNFα-308A (TNF2). The distribution of TNFα-308 genotypes in normal group was consistent with the Hardy-Weinberg equilibrium. No TNF2 homozygote was observed among CM subjects. However, the distribution of TNFα-308 genotypes and alleles did not differ significantly between CM patients and controls (P = 0.271). These data suggest that TNF2 is not associated with predisposition to CM in Central Sudanese children. Further studies for confirmation of this finding in other regions of Sudan are required.

Different population distribution of 27 bp-VNTR in intron4 of eNOS gene polymorphism and its association with predisposition of certain diseases may be of geographical and ethnical important. In this study we investigated distribution of 27 bp-VNTR in intron4 of eNOS gene polymorphism in Turabah population. Genotyping of eNOS VNTR was done by PCR in 225 unrelated individuals from population living in Turabah province. The allele/and genotype frequencies of the polymorphism were tested for Hardy-Weinberg equilibrium (WBE) and compared to two Arabic populations (Egyptian and Tunisians) using Chi Square Goodness-of-Fit test. The study revealed that; the alleles and genotypes distribution of eNOS VNTR 27-bp polymorphism showed a significant difference from these expected frequencies indicating that the population is not in Hardy-Weinberg equilibrium. comparing alleles and genotypes frequencies in study population with those of Tunisian and Egyptian populations had demonstrated significant differences of genotypes frequencies between study and both Tunisian and Egyptian populations.

Glutathione-S-transferases (GST) are key phase II detoxifying enzymes that play critical roles in protection against products of oxidative stress and against electrophiles. Glutathione S-transferase mu (GST-M1) and theta (GST-T1) are isoforms of glutathione transferase enzymes that participate in the metabolism of a wide range of chemicals. Deletion variants that are associated with a lack of enzyme function exist at both these loci. The frequencies of homozygous GSTM1 and GSTT1 deletion carriers are very high in most of the populations studied to date. The aim of this study was to investigate the frequencies of GSTM1 and GSTT1 genotypes among the Turabah population in Saudi Arabia in comparison with the data published for some other Arabic populations. The subjects consisted of 164 unrelated healthy individuals from the Turabah population. GST genotyping was performed by multiplex polymerase chain reaction-based

Malaria is one of the biggest known health threats in Africa. Erythrocytes infected with falciparum malaria adhere to a variety of host receptors, including CD36. Cerebral malaria (CM) is a major life-threatening complication of Plasmodium falciparum infection. The human protein CD36 is a major receptor for P. falciparum-infected erythrocytes and contributes to the pathology of P. falciparum malaria. The aim of the present study was to determine the role of the adhesion molecule CD36 in children with CM at Central Sudan. A case-control study included 70 children with cerebral malaria (CM) and 84 controls were enrolled in this study. The method was a mutational analysis for the polymorphism in the CD36-188 T > G using polymerase chain reaction-restriction fragment length polymorphism analysis (PCR-RFLP) where the distribution of CD36 to 188 T > G genotypes differed significantly between CM patients and controls and children carrying the mutant G allele were associated with eight-times increased relative risk for susceptibility to cerebral malaria (P-value = 0.005; odds ratio = 7.962; 95% CI = 1.571 to 29.903).

There is some evidence showing that genetic factors are involved in human susceptibility to parasitic diseases such as schistosomiasis and malaria. Studies have shown that the Nramp1 and H-2 genes are implicated in the control of Leishmania donovani infection in mice. We sought genetic loci involved in the control of susceptibility to visceral disease caused by L. donovani in humans. We studied 37 families with at least two affected sibs living in a village in eastern Sudan, where an outbreak of visceral leishmaniasis occurred between 1995 and 2000. The genetic markers located in five chromosomal regions containing candidate genes were typed: 2q35 (NRAMP1), 5q31–q33 (Th2 cytokine cluster), 6p21 (HLA/TNF-a), 6q23 (INFGRI) and 12q15 (INF-g). Linkage (multipoint lod-score ¼ 1.08; P ¼ 0.01) was observed for the 5 0 (CA) repeat polymorphism in the NRAMP1 promoter. This suggests that genetic variations of this gene affect susceptibility to visceral leishmaniasis in this population.

Binding of the interleukin-2 (IL-2) to the IL-2 receptor (IL-2R) triggers a series of intracellular events culminating in lymphocyte proliferation and differentiation. We report here the identification of a novel G245R polymorphism in the membrane proximal domain of the IL-2 receptor b chain (IL-2Rb). Present at a frequency of 7.2%, the IL-2-Rb G245R was identified in a population of Eastern Sudan exposed to a severe outbreak of visceral leishmaniasis (VL), a disease associated with a marked depression of T-cell antigen-specific responses. The location of the G245R polymorphism next to the box1/box2 proximal cytokine receptor homology segment and suggestive genetic association with the development of disease (P ¼ 0.043), suggest that it may affect Janus kinase (JAK) association and impair growth signal transduction. However, additional genetic association with a synonymous single nucleotide polymorphism (IL2RB þ 8777T) suggests that other variations of IL2RB or nearby genes participate in the highly significant linkage with VL at 22q12 previously reported for this population.

An association study of a cohort of 177 Sudanese patients infected with Schistosoma mansoni {82 (46%) males and 95 (54%) females} was conducted to investigate the correlation of four polymorphisms {IFN-γ rs2069705 (C/T), IFN-γ R1 rs11914 (G/T), rs1327474 (A/G), and IL-13 rs1800925 (-1055) (C/T)} to the regression and progression of liver fibrosis 39 months after treatment with praziquantel (PZQ). Regression and progression phenotypes were evaluated by ultrasound. DNA from patients infected with S. mansoni was extracted, purified and amplified by PCR. Allelic typing was done using RFLP, primer extension reaction, DHPLC, and allelic discrimination assays (TAQ-MAN). SDS (Sequence Detection Systems) software was used for genotyping. There was an association between IL-13 rs1800925 T allele and the low grades of periportal fibrosis (PPF) (P = 0.02). No significant association was found between three polymorphisms (IFN-γ rs2069705 (C/T) P = 0.5, rs1327474 (A/G) P = 0.3 and IFN-γ R1 rs11914 (G/T), and PPF as response to PZQ. We conclude that IL-13 rs1800925 T allele is protective against PPF (P = 0.02).

Mutations of the transmembrane channel-like gene 1 (TMC1) have been shown to cause autosomal dominant and recessive forms of congenital nonsyndromic deafness linked to the loci DFNA36 and DFNB7/B11, respectively. In a Sudanese pedigree affected by an apparently recessive form of nonsyndromic deafness, we performed a linkage analysis using markers covering the deafness loci DFNB1 – DFNB30. A two-point LOD score of 3.08 was obtained at marker position D9S1876, located within the first intron of the TMC1 gene at DFNB7/B11. By DNA sequencing of TMC1 exons 3-22, we identified the structural variant c.1165C>T in exon 13, leading to the stop codon p.Arg389X, and the splice-site variant c.19+5G>A, independently segregating with the deafness phenotype. The c.1165C>T [p.Arg389X] mutation was also observed in four out of 243 unrelated deaf Sudanese individuals, but none of the mutations was found among 292 normal hearing controls. The finding of TMC1 mutations contributing to deafness in Sudan confirms and extends previous reports on the role of TMC1 in recessive nonsyndromic deafness and shows that deafness-causing TMC1 mutations may occur in various ethnic groups.

Introduction: Malaria parasite resistant to Chloroquine poses severe and increasing health problems in tropical countries. Monitoring the drug resistance by implementing the molecular markers may be essential to overcome the problem, therefore this study aims to assess the Chloroquine resistance of Plasmodium Falciparum parasite in central Sudan, using molecular markers. Methods: One hundred and seventy six patients were confirmed P. falciparaum positive. Sixty-four were selected and only forty patients completed the follow-up. In vivo sensitivity assay was used accompanied with standard regimen of Chloroquine phosphate. DNA was extracted from blood on filter paper (day 0) and was used to amplify two genes P. Falciparum transporters gene Pfcrt and multi-drug resistant gene-1 Pfmdr-1. Results: Among forty patients, 54% responded to Chloroquine regimen with adequate clinical response (ACR), however, 46% showed treatment failure. All treatment failures were treated with Artemether or Quinine. The amplification of Pfcrt gene (n, 18) and Pfmdr 1 gene (n, 29), had shown that 72% of Pfcrt T76 were mutant allele, 22% were K76 wild-type, however, only 5% were mixed alleles T/K. while Pfmdr 1 gene (n, 29) revealed that 55% were wild genotype N 86, 38% were mutant Y 86, and 7% were mixed alleles Y/ N 86. Conclusion: The high frequency of the mutant Pfcrt 76T gene among P.

We showed previously that infection by S. mansoni not only triggers the production of reactive oxygen species in mouse liver, but that it also leads to the alteration of antioxidant defenses. To determine whether such events occur in humans, we measured the serum markers of oxidative stress, i.e. lipid peroxides and protein carbonyl, as well as hyaluronate levels in subjects in the Managil area of the Sudan. Grades of fibrosis were determined by ultrasonographic examination. Two groups were used as controls, one Sudanese and another one European. We found that Sudanese subjects in the endemic area differed from the control groups, both Sudanese and European, insofar as they had higher levels of the serum metabolites measured. The latter increased with the grade of fibrosis. Moreover, protein carbonyl and hyaluronic acid levels correlated positively with lipid peroxide levels. These findings indicate that oxidative stress might contribute to S. mansoni-associated pathology in man. The serum markers considered in our study, obtained by relatively simple techniques, may provide a useful biochemical index for the identification of almost asymptomatic patients who however are at risk of developing severe schistosomiasis.

Parasitic diseases, including human visceral leishmaniasis, are multifactorial. Factors that are expected to play an important role in the parasite–human interaction are exposure, parasite " virulence " and host resistance factors. In populations exposed to Leishmania donovani most subjects do not allow the parasites to establish themselves or remain asymptomatic. Some individuals, however, fail to control parasite expansion and dissemination and develop a visceral disease. We report here the results of a longitudinal survey whose aims were to identify risk factors underlying visceral leishmaniasis (VL) susceptibility during an outbreak that occurred in a Sudanese village between 1995 and 1999. Most of the 660 subjects (90%) living in the central district were exposed to Leishmania and 20.9% (n = 138), mostly teenagers, developed VL. VL cases increased markedly in adults late in the outbreak, suggesting some changes in adult resistance status or in Leishmania " virulence " during the epidemic. Age and ethnic origin of the patients were the most important critical risk factors to account for the distribution of the VL cases that were recorded during the whole epidemic. This and the high frequency of VL in certain families suggest that host genetic factors played an important role in shaping the outbreak in this village. However, environmental factors (the presence of cows and neems in the households) that increase/decrease exposure to the parasite had significant effects on the distribution of VL cases in the village in the first phase of the outbreak.