Association analysis of genetic variants with metabolic syndrome components in the Moroccan population.

This study aimed to analyze the association between UBE2E2, G6PC2, PROX1, DUSP9, ADCY5 and APOC3 polymorphisms and the risk of metabolic syndrome (MetS) in Moroccan patients. The study was applied on 316 unrelated individuals from Morocco, 177 MetS patients and 139 controls. The metabolic syndrome was diagnosed according to the International Diabetes Federation (IDF) criteria. All subjects were genotyped for the following polymorphisms: rs7612463 (UBE2E2), rs560887 (G6PC2), rs340874 (PROX1), rs5945326 (DUSP9), rs11708067 (ADCY5) and rs5128 (APOC3) using TaqMan allelic discrimination assay and PCR-RFLP. The rs5128 (APOC3) and rs340874 (PROX1) polymorphisms were found to be significantly associated with susceptibility to MetS (P=0.003 and P=0.033, respectively), with odds ratios (ORs) of 4.39 (95% CI=1.66-11.56) and 2.81 (95% CI=1.09-7.27), respectively. Two variants presented a tendency to be protector factors against MetS risk: rs5945326 in DUSP9 gene (OR=0.32; 95% CI=0.17-0.62; =0.001) and rs11708067 in ADCY5 gene (OR=0.51; 95% CI=0.28-0.95; P=0.034). No association was detected between rs7612463 (UBE2E2) and rs560887 (G6PC2) SNPs and MetS increased risk. This study suggests a potential role of rs5128, rs340874, rs5945326 and rs11708067 variants in MetS susceptibility in the Moroccan population.

Splenic histiocyte-rich pseudotumor following chemotherapy for non Hodgkin diffuse large B cell lymphoma.

Chemotherapy may induce mass lesion in rare conditions, which can be easily mistaken as a residual tumor mass. In this report, we describe a mass affecting spleen in a patient received chemotherapy for non Hodgkin diffuse large B cell lymphoma. This mass proved histologically to be non neoplastic formed of sheets of histiocytes and xanthoma cells, which is called histiocyte-rich pseudotumor. This report describes this rare lesion and the possible differential diagnosis.

Association analysis of APOA5 rs662799 and rs3135506 polymorphisms with obesity in Moroccan patients.

The aim of the present study is to explore the association between the APOA5 polymorphisms and haplotypes with obesity in Moroccan patients. The study was performed in 459 subjects, Obese (n=164) and non-obese (n=295). All subjects were genotyped for the APOA5 -1131T>C (rs662799) and c.56C>G (rs3135506) polymorphisms. The contribution of APOA5 polymorphisms and haplotypes in the increased risk of obesity were explored using logistic regression analyses. The -1131T>C and c.56C>G polymorphisms were significantly associated with obesity. Both polymorphisms were strongly associated with increased BMI. Analysis of constructed haplotypes showed a significant association between CG haplotype and susceptibility to obesity (OR [95%CI]=3.09 [1.93-4.97]; P<0.001). These results support a potential role for APOA5 common variants and related haplotypes as risk factors for obesity.

Three-dimensional sonohysterography may replace hysteroscopy for women with perimenopausal bleeding.

OBJECTIVE: To investigate whether three-dimensional saline-infusion transvaginal sonohysterography can replace hysteroscopy in the detection of intrauterine lesions in women with perimenopausal bleeding. MATERIALS AND METHODS: This study was carried out at the Department of Obstetrics and Gynecology, Menofyia University Hospital in Egypt. Fifty women who presented with perimenopausal bleeding and fulfilled the inclusion criteria were recruited for the study. Three-dimensional sonohysterography was performed followed by hysteroscopy for all women. Results were tabulated and statistically analyzed. The accuracy of both techniques was calculated in terms of sensitivity, specificity, positive and negative predictive values. RESULTS: The mean age of women enrolled was 47.5 ± 5.61 years and the mean body mass index was 28.13 ± 2.91 kg/m(2). Three-dimensional sonohysterography detected no abnormality in 26 women but hysteroscopy only detected 24 with no abnormality. Compared to hysteroscopy, three-dimensional sonohysterography has sensitivities of 100% and 92% in the detection of endometrial polyps and submucous fibroids, respectively. The specificity of sonohysterography for both lesions was 100%. The sensitivity and specificity for other lesions exceeded 95%. CONCLUSIONS: Three-dimensional sonohysterosonography may be considered as an effective alternative to hysteroscopy in the assessment of the uterine cavity for any woman with perimenopausal bleeding.

Antioxidant capacity of follicular fluid in relation to follicular size and stage of estrous cycle in buffaloes.

The present study was designed to evaluate the changes in the concentrations of different antioxidants, such as glutathione (GSH), glutathione reductase (GR), superoxide dismutase (SOD), and catalase (CAT), in the follicular fluid collected from different follicular size categories in relation to stage of estrous cycle in buffaloes. In addition, malondialdehyde (MDA) as an indicator for lipid peroxidation was also estimated. Fifty pairs of buffalo ovaries were collected from a local slaughterhouse. Based on ovarian structures, the cycle was divided into follicular and luteal phase. The follicles on each pair were classified into three groups; small (≤ 3 mm), medium (4-9 mm) and large (≥ 10 mm). The concentrations of SOD, CAT, GSH, and GR in the follicular fluid of each group as well as MDA were estimated. Results indicated that there was a significant decrease (P < 0.05) in the average numbers of small follicles obtained at the follicular phase than those obtained at the luteal phase of the cycle. However, the mean numbers of the large sized follicles was significantly increased (P < 0.05) in the follicular phase than in the luteal phase. Large follicles obtained at the luteal phase had a significantly higher (P < 0.05) concentration of GSH than that obtained from small ones. A significant (P < 0.05) effect of follicular size on GR concentrations was observed. The concentration of SOD tended to be higher in large follicles obtained at the follicular phase than that collected at the luteal phase (56.7 ± 3.7 vs. 28.1 ± 6.7 U/mL, respectively). On the contrary, a significantly higher concentration (P < 0.05) of SOD was recorded in small follicles as compared with medium and large follicles collected at the luteal phase. CAT concentrations did not significantly differ among different follicular sizes between follicular and luteal phases as well as within each phase. Malondialdehyde concentration was significantly decreased (P < 0.05) in the follicular fluid obtained from small follicles collected at the follicular phase compared with those obtained at the luteal phase. In conclusion, the present study showed that the concentrations of enzymatic antioxidants except for CAT vary according to the follicle size and the stage of the estrous cycle suggesting their possible role in the process of follicular development during estrous cycle in buffaloes.

Comparison of serum survivin and alpha fetoprotein in Egyptian patients with hepatocellular carcinoma associated with hepatitis C viral infection.

BACKGROUND: Survivin is specific antiapoptotic gene product expressed in a variety of human neoplasms whose overexpression might assist in early diagnosis and as a prognostic marker. OBJECTIVES: The aim was to evaluate the plasma levels of survivin and alpha fetoprotein in patients with chronic hepatitis C viral infection (HCV) with and without hepatocellular carcinoma (HCC). SUBJECTS: 70 subjects were divided into: a control group (Group I) (20 healthy volunteers) and two patients groups: Group II, HCV group (20 patients); and Group III, HCC with HCV(30 patients). METHODS: Thorough physical examination, ultrasonography of the abdomen, laboratory investigations (liver profile, anti-HCV antibodies, hepatitis B surface antigen, Alpha fetoprotein (chemiluminometry) and Survivin (ELISA)) were performed. RESULTS: There was a significant increase in survivin level in HCV patients (Group II) when compared to the control group (p=0.039), along with a significant increase in AFP in Groups II and III when compared to Group I (P<0.001 for both). AFP also distinguished between the two HCV groups. The best generated cut off value for AFP was 10.9 ng/ml and for survivin 13.7 pg/ml. Serum survivin diagnostic sensitivity was 53.3%, diagnostic specificity 62.5% and efficiency 58.6%, in contrast to 100%, 92.5% and 95.7%, respectively, for AFP. CONCLUSIONS: While survivin showed significant increase in the HCV group, its diagnostic performance was lower and it proved to be less reliable as a tumor marker for HCC than did AFP.

IL-4 and reactive oxygen species are elevated in Egyptian patients affected with schistosomal liver disease.

UNLABELLED: Schistosomiasis is a chronic liver disease that is endemic in rural areas of Egypt. Some patients may acquire infection and develop minimal complications while others may develop severe complications and progress to portal hypertension and cirrhosis especially if co-infected with hepatitis C virus (HCV). The reasons for this are poorly understood. Previous studies suggested an independent role for Th2-biased cytokine responses to schistosomal antigens in persistent hepatic fibrosis and development of complications. Studies in murine schistosomiasis demonstrated that the development of fibrosis requires the production of the profibrotic cytokines such as IL-4. On the other hand, previous studies have suggested that reactive oxygen species may play an important role in schistosomal granuloma formation and disease progression AIM: To investigate the status of the profibrotic IL-4 cytokine, oxidative stress (as indicated by thiobarbituric acid reactive substances), the antioxidants enzymes catalase and red blood cells glutathione content in a cohort of Egyptian patients affected with schistosomal hepatic disease and or hepatitis C infection. MATERIALS AND METHODS: The current study included four groups: patients with isolated HCV infection (HCV), comprised of 22 patients aged (mean +/- SD) 51.3 +/- 4.7 years; patients with HCV and schistosomal hepatic fibrosis (SHF) (Co-infected patients), comprised of 22 patients aged 49.6 +/- 4.0 years, patients with pure chronic schistosomiasis comprised of 22 patients with chronic schistosomiasis aged 53.7 +/- 5.6 years and a control group, comprised of 22 control subjects aged 48.5 +/- 5.4 years. Thiobarbituric acid reactive substances (TBARS), Catalase activity and red blood cells glutathione contents were determined using chemical methods while plasma IL-4 was determined using a commercially available ELISA kit. RESULTS: A significant reduction in erythrocyte catalase activity in patients with isolated HCV infection, isolated SHF and those co-infected with SHF and HCV compared with the control group was found (P < 0.05). A similar pattern was found regarding erythrocyte glutathione content. Conversely TBARS level were significantly increased in patients with HCV, SHF and mixed groups compared with the control group (P < 0.05). Plasma IL-4-values were significantly increased in the three groups compared to the control subjects group. Furthermore, plasma IL-4 was significantly higher in patients with isolated SHF and those with SHF + HCV compared to the HCV alone patient group. Plasma IL-4 also correlated positively with portal vein diameter in SHF and SHF . HCV groups. (r = 0.54 and P < 0.05). Furthermore when all patients were analysed collectively, there was a positive correlation between plasma IL-4 and right lobe of the liver and plasma TBARS concentration. CONCLUSION: Schistosomal infection triggers a Th2 type immune response as indicated by the high plasma IL-4. It also triggers an increase in reactive oxygen species levels. These effects especially IL-4 lead to more reduction in the level of antioxidants enzymes (that may be already compromised in malnourished schistosomal patients) with the resultant disease progression and development of complications.

In Egyptians, a mutation in the lymphotoxin-alpha gene may increase susceptibility to hepatitis C virus but not that to schistosomal infection.

In Egypt, human schistosomiasis is a chronic endemic disease that can produce portal hypertension and occasionally death. Curiously, most Egyptian cases of the disease are complicated by co-infection with hepatitis C virus (HCV), the co-infection generally resulting in more severe liver disease than seen in those only infected with HCV. The high frequency of co-infection may be the result of transmission of the virus during parental schistosomal therapy or schistosomiasis-related surgery but it also seems possible that certain individuals are particularly susceptible to both schistosome and HCV infection. Lymphotoxin-alpha (LTalpha) participates in inflammatory responses, and single-nucleotide polymorphisms (SNP) in the human LTalpha gene have recently been found to have profound effects on individual susceptibility to various diseases, including some of those caused by parasitic infection. The possibility that the SNP that create an NcoI restriction site in the gene are associated with increased susceptibility to schistosomal and/or HCV infection has now been investigated in the Egyptian city of Alexandria. The subjects investigated were 22 patients infected only with HCV, 44 cases of schistosomal hepatic fibrosis (SHF) who were either co-infected with HCV (22) or HCV-free (22), and 22 apparently healthy, schistosome-free and HCV-free controls. When each of these subjects was tested for the NcoI polymorphism in their LTalpha gene, by PCR-RFLP, those with isolated HCV infection and those co-infected with Schistosoma and HCV (but not those infected with Schistosoma alone) were found significantly more likely to carry the mutation than the control subjects (P<0.05). When the cases of SHF were pooled together (irrespective of HCV-infection status), they were not found significantly more likely to have the mutation than the controls. At least in Egypt, therefore, the LTalpha mutation may have a role in susceptibility to HCV infection (and the subsequent development of clinical manifestations) but appears to have little if any effect on susceptibility to schistosome infection. Larger studies are now needed to confirm these results.

Gigantic recurrent abdominal desmoid tumour: a case report.

Deeply seated fibromatosis or desmoid tumour (DT) is a rare entity characterized by benign proliferation of fibroblasts. Although non-malignant, this tumour can be life-threatening due to its invasive property and high recurrence rate. We report a unique case of a huge recurrent abdominal DT (36 cm in diameter, 25 kg in weight) that caused pressure necrosis and sloughing of the overlying anterior abdominal wall, and produced a large fungating mass protruding outside the abdomen. Although preoperative neoadjuvant therapies were all ineffective, radical surgical removal of the tumour was successful. The procedure was followed by an excellent clinical recovery and the patient is still alive with no evidence of recurrent disease after a 6-year follow-up. We recommend surgical removal of DT regardless of its size and in particular in cases where there is no or inadequate response to neoadjuvant therapy.

Study of GM immunoglobulin allotypic system in Berbers and Arabs from Morocco.

The GM immunoglobulin allotype polymorphism was investigated in four Moroccan populations: three Berber groups from Khenifra (Middle Atlas), Amizmiz (High Atlas), and Bouhria (Beni Snassen) and one Arabic-speaking sample from the Doukkala area (Abda, Chaouia, Doukkali, and Tadla districts in south-central Morocco). In order to characterize the genetic relationships between the populations, our results were compared with those obtained for other North African groups (from Morocco, Algeria, Tunisia, and Niger) and for Middle-East Africans, sub-Saharans, and Southwest Europeans. Based on GM haplotype frequencies, Factorial Correspondence Analyses, F(ST) significance testing, and hierarchical analyses of variance were performed. Our results reveal that Moroccan populations have heterogeneous GM profiles with high frequencies of GM haplotypes in Europeans (from 76% for Doukkala to 88% for Bouhria) and relatively high frequencies of GM haplotypes in sub-Saharans (from 11% for Bouhria to 23% for Amizmiz). The genetic diversity observed among Moroccans is not significantly correlated with either geographic or linguistic differentiation. In spite of their cultural and historical differentiation, we did not discover any significant genetic differences between Berbers and Arabic-speakers from Morocco. However, when large geographical areas are considered, our population samples are integrated in the North African GM variation, significantly distant from sub-Saharan groups but with a close relationship with Southwest European populations.

Twenty nuclear DNA polymorphisms in a Moroccan population: a comparison with seven other human populations.

A south central Moroccan sample was analyzed for 20 nuclear DNA polymorphisms (restriction fragment length polymorphisms). The population was chosen on the basis of available information on its history, making it suitable for comparisons with data from other European populations. The markers analyzed have been studied previously in several human groups from different continents, and data on African and European samples have been compared to evaluate the genetic affinity of the studied sample with other populations, especially with two Spanish groups: Basques and Andalusians. Heterozygosity levels showed intermediate values between the African and European groups and higher than those found so far in an African group for the studied markers. Genetic distances closely matched geographical relationships through neighbor-joining tree and correspondence analysis, the Moroccans being closer to the European groups than the sub-Saharan Africans included in the analysis. Allele distributions revealed specific population associations with large weight of several alleles in the differentiation of some groups. Gene flow from sub-Saharan Africa appears to be relevant in understanding the differentiation of present Moroccan populations.

HLA genes in Arabic-speaking Moroccans: close relatedness to Berbers and Iberians.

The gene profile of Arabic-speaking Moroccans has been compared with those of other Mediterranean populations in order to provide additional information about the history of their origins. Our HLA data suggest that most Moroccans are of a Berber (Imazighen) origin and that Arabs who invaded North Africa and Spain in the 7th century A.D. did not substantially contributed to the gene pool; however, they imposed their advanced culture and their religion. Present-day Egyptians are also related to Moroccan Berbers and this supports an ancient Saharan origin for part of the present-day Mediterraneans, particularly for the Arabic-speaking ones (also Algerians) and also for the older substratum of Mediterranean people.

Red cell enzyme polymorphisms in Moroccans and southern Spaniards: new data for the genetic history of the western Mediterranean.

Population samples from Morocco (El Jadida, south Atlantic coast) and La Alpujarra (Granada mountains, Spain), located on both shores of the western Mediterranean, were typed for 8 erythrocyte genetic markers: ACP1, ESD, PGD, AK1, GLO1, PGM1, SODA, and DIA. Genetic heterogeneity within western Mediterranean groups was investigated on the basis of allele frequencies of these 8 polymorphisms plus ABO and Rh (CDE). Only slight peculiarities for the ACP1, GLO1, and AK1 systems were observed in the 2 samples compared with other Mediterranean data. The new data are consistent with a main north to south genetic differentiation in the Mediterranean region. However, with regard to other European groups, the La Alpujarra population shows a particular affinity with North Africans that may be compatible with both an ancient common substratum and/or a special historical influence during the Muslim domination of the Iberian Peninsula.

Spotlight on the continual applicability of routine plasma monitoring antiepileptic drugs in the treatment of epilepsy.

The continual applicability of routine plasma measurement of antiepileptic drugs (AEDS) was assessed in 301 epileptic patients with mean age and body weight+/-SD of 30+/-10.6 years and 55+/-19 kg, respectively. The AEDS used included carbamazepine (CBZ), phenytoin (PHT) or valproic acid (VPA) which were given either alone (monotherapy) or in combination (polytherapy). The incidence of uncontrolled epilepsy was significantly higher (P<0.001) in polytherapy vs monotherapy of AEDS and when plasma levels of the drugs were in the subtherapeutic range (P<0.01 for PHT, and P<0.001 for CBZ). Subtherapeutic levels of CBZ were seen with fixed and reasonable doses of 600 mg of the drug given daily. Also, the concentration dose ratios of AEDS were significantly lower in polytherapy vs monotherapy. In conclusion, routine plasma monitoring of AEDS especially in uncontrolled cases of epilepsy could be considered as a fast tool for proper therapeutic approach and dose optimisation in these psychologically and socially devastating episodes.

Genetic relationships between southeastern Spain and Morocco: New data on ABO, RH, MNSs, and DUFFY polymorphisms.

The genetic polymorphism of four blood group systems (ABO, RH, MNSs, and DUFFY) was analyzed in two well-defined population samples coming from south-central Morocco and southeastern Spain. Both a controversial ancient common substrate and the long period of coexistence between North Africa and southern Spain during the eight centuries of the Islamic invasion of the Iberian Peninsula suggest a particular genetic relationship between northwestern Africa and southern Spain. Allele distributions in each sample are in general agreement with that expected according to the geographical and historical characteristics in the Mediterranean region. However, the differences between the Moroccan sample and other north African groups illustrate considerable genetic variability in this geographical region. In comparison with other samples from different regions of the Iberian Peninsula, the markers examined fail to demonstrate any particular affinity between the southern Spanish sample of La Alpujarra and Moroccan populations. Am. J. Hum. Biol. 11:745-752, 1999. Copyright 1999 Wiley-Liss, Inc.

Digital dermatoglyphic patterns of Moroccan Arabs: relationships with Mediterranean populations.

Dermatoglyphic finger patterns and pattern intensity were examined in a sample of 204 (105 males and 99 females) adults from the authochthonous Arab population of south central Morocco. No significant sex differences were found for the overall finger pattern incidence or for the pattern intensity index. A high incidence of arches is the most remarkable characteristic of this population as compared to other Mediterranean groups. The significant differences from two previous sets of Moroccan data indicate a remarkable heterogeneity within the present day Moroccan population. Also important is the differentiation of this sample from other north African ethnic groups such as Berbers and Tuaregs. An analysis of the dermatoglyphic relationships using R-matrix analysis, shows a relative proximity between this Moroccan series and other southwest European groups as compared to north African populations.

APO E polymorphism in Spanish and Moroccan populations.

Apolipoprotein E (apoE) gene polymorphism was analyzed by polymerase chain reaction in one Moroccan and six Spanish populations, a total of 660 individuals. No significant differences were observed between samples, and the mean relative frequencies (with 95% confidence intervals) found were 0.104 (0.069-0.139) for the epsilon4 allele, 0.855 (0.813-0.897) for epsilon3 and 0.041 (0.015-0.067) for epsilon2. Frequencies of the epsilon4 allele were low in comparison to Northern European populations, but similar to those reported for other South-European populations. The presence of a rare mutation, E2 Christchurch, in one Basque individual was confirmed by sequence analysis.

An epidemiological/genetic study of mental subnormality in Assiut Governorate, Egypt.

The aim of this investigation was to study the epidemiologic and genetic aspects of mental subnormality (MS) in Assiut Governorate, representing the Egyptian population. The sample comprised 3000 randomly selected subjects from three localities: one urban (Assiut City) and two adjacent rural villages. Age-matched controls were chosen for comparison. The Stanford-Binet test was administered to each individual. During history-taking special attention was paid to consanguinity and categorization on a genetic basis. The results revealed 116 cases with MS, showing an overall prevalence of 3.9%, which varied in the three locations: 3.4% in Assiut City, and 3.8% and 4.4% in the two rural locations. Clinico-genetic classification revealed the following: idiopathic MS 27.6%, MCA/MR syndromes 24.1%, primary CNS defect 12.9%, Martin-Bell syndrome 10.3%, inborn errors of metabolism 9.5%, tetratogenic and environmental causes 5.2%, MS and epilepsy 4.3%, chromosomal disorders 3.4% and MS associated with psychiatric disorder 2.6%. Parental consanguinity was found in 65% of the total sample, which emphasizes the role played by that factor in the etiology of mental subnormality in Egypt.

Prevalence of chorea, dystonia and athetosis in Assiut, Egypt: a clinical and epidemiological study.

Involuntary movements originate from different parts of the nervous system. The character of movements depends upon the site of the lesion and the type of pathological change. The presence of more than one type of involuntary movement in a patient can cause confusion and difficulty in the proper classification of movement disorders, which then leads to problems in the differential diagnosis and appropriate treatment. This work was planned to estimate the prevalence and to study the aetiological factors of chorea, dystonia, athetosis and hemiballismus in Assiut, a representative community of Upper Egypt. This study was carried out on 7,000 families (42,000 subjects) representing different types of communities (2,000 families from urban, 2,000 families from suburban and 3,000 families from rural communities). All members of these samples were personally interviewed at home. Full clinical assessment and special investigations required for the diagnosis of different types of chorea, dystonia and athetosis were carried out in Assiut University Hospital. The prevalence rate for rheumatic chorea was 62/100,000 population and it was significantly higher (p < 0.01) among rural than urban and suburban populations, whereas Huntington's chorea had a prevalence rate of 21/100,000 with no significant difference between different areas studied (urban, suburban and rural). The other two common types of chorea were reported with prevalence rates of 12/100,000 for the encephalitic type and 17/100,000 for the atherosclerotic type. No single case of generalized dystonia was recorded and all cases were of the focal type of dystonia with a prevalence rate of 26/100,000 population. No significant differences were recorded between the different areas studied (urban, suburban and rural).(ABSTRACT TRUNCATED AT 250 WORDS)