Prevalence of HBV and HCV infection among multi-transfused Egyptian thalassemic patients

Though regular blood transfusion improves the overall survival of patients with p-thalassemia, it carries a definite risk of infection with blood-borne viruses. The present study was carried out to estimate the real frequency of hepatitis B virus [HBV] and hepatitis C virus [HCV] among Egyptian P-thalassemic patients, and determine the infection-associated risk factors in these patients. A prospective study conducted in a university hospital from January 2009 to January 2010. Two hundred patients with p-thalassemia major were enrolled in this study. Using enzyme-linked immunoabsorbent assay [EEISA], their sera were tested for hepatitis B surface antigen [HBsAg], antibody to hepatitis C core antigen [anti-HBc], and HCV antibody [HCV Ab]. The positive HCV Ab results were confirmed by second generation recombinant immunoblot assay [RIBA]. The study sample consisted of 111 males and 89 females, with a median age of 13 years. Eighty-one [40.5%] patients were HCV Ab positive by ELISA and 39 [19.5] were anti-HCV positive By RIBA; 58 [29.0%] were HBsAg positive and 13 [6.5%] were anti-HBc positive. Older age, an increased number of transfusion units, and HBsAg seropositivity were significantly associated with a higher prevalence of HCV and HBV. The prevalence of HCV and HBV infections are very high among Egyptian p-thalassemic patients, which calls for a critical look into the prevailing transfusion practices and adoption of stricter donor selection criteria to decrease the incidence rate of both HCV and HBV infections effectively. Furthermore, there is a compressing need for the use of more specific and sensitive methods for HCV testing in Mansoura University Hospitals

Glucosidase acid beta mutations in children with gaucher and relation to disease phenotype

More than 200 mutations have been described in patients with Gaucher disease [GD] and usually more than one mutation achieves a high population frequency. Genotype I phenotype correlation in patients with GD are not established. This study was designed to determine the underlying mutations in Egyptian children with GD and to assess their relation to disease phenotype. The study comprised 17 children with GD, 13 males and 4 females with mean age 6,09 +/- 441 years in addition to 10 healthy controls with matched age and sex. Patients included 13 children with type 1, 2 children with type 2 and 2 with type 3 GD. DNA was extracted from peripheral blood leukocytes; exon 9 and 10 were amplified by PCR using specific primers and DNA sequences were determined by ABI 310 genetic analyzer. Wild type allele was detected in 95%of controls [19/20] and a normal variant in 1/20 [5%]. L444P allele was encountered in 50%of the alleles in type 1 patients [13/26], H451 P in 2/26 [7.7%] and recombinant alleles [RecNcil, RecNcil+M450L RecFs, RecFs+M450L] in 9/26 [34.6%]. L444P and Rec alleles each occurs in 214 [50%] of type 2 and 3. A new mutation has been described in this study [g.7336A>C, [M450L]] and 2 mutant alleles have not been determined. Genotypes in type 1 patients comprised; L444P/L444P [23,1%], Rec alleles/L444P [53.8%]. Type 2 and 3. patients had Rec alleles/L444P genotypes in all patients [100%]. There was no significant association between mutant alleles frequency [p=0.63] or genotype frequency [p=0.41] and disease phenotypes. L444P is the most frequent mutant allele followed by Rec alleles in studied patients. Novel mutations are continuosly detected adding more to this expanding panel of GD mutations. No significant genotype-phenotype association was observed in studied patients

Lipid metabolism and atherogenic index in turners syndrome

Turner's syndrome is the most common sex chromosome abnormality in females. Women with Turner's syndrome have short stature, hypergcnadotrophic hypogonadism and have an increased incidence of coronary heart disease. So, the aim of this work is to study growth parameters, serum FSH, LH, serum lipids and atherogenic index in girls with Turner's syndrome and highlight the correlation between different studied parameters. This work comprise 14 patients with Turner's syndrome [mean age +/- SD 11.93 +/- 3.79 years] and 14 healthy age matched Egyptian females as a control group. Thorough anthropometric measurements were done for patients and control and are expressed as standard deviation score utilizing Egyptian growth table for height and international tables for ideal weight for height. Morning blood sample after overnight fast was used for estimation of serum FSH and LH, serum lipids and atherogenic index. significant decrease in height with significant increase in weight% to ideal weight for height in Turner patients compared to controls with significant higher mean serum FSH, LH, cholesterol, LDL, TG and atherogenic index. Correlation studies showed that height SD score had significant negative correlation with weight% to ideal weight for height, serum LH, FSH and lipid profile. Meanwhile measures of weight% to ideal weight for height showed positive correlation with serum FSH, lipogram with no significant correlation with HDL and atherogenic index. Turner's syndrome is associated with hyperlipidemia and significant increased atherogenic index which explain the liability for coronary heart disease. The degree of lipid disorder is negatively correlated and height SD score

Oxidative stress and antioxidant vitamins in obese children

Oxidant-antioxidant status was investigated in a group of obese children in comparison with healthy subjects by determination of malondialdehyde [MDA], tocopherol, and ascorbic acid. Thirty five obese children [25 male and 10 female] mean age [9 +/- 4.4year] with BMI > 2SD of the mean for age and sex [BMI = 31.5 +/- 6.6]. A group of 30 healthy, age and sex matched children were used as a control group. Blood samples were collected from every subject and control after an overnight fast of which 2ml blood collected on heparin for plasma ascorbic acid [vitamin C] and 4ml blood collected into plain tube for serum tocopherol and malondialdehyde [MDA]. MDA was significantly higher in obese children compared to control [P=0.0001]. This was associated with significantly lower plasma vitamin E and vitamin C in obese children compared to control [P= 0.0001]. BMI was positively correlated with age and MDA and showed negative correlation with vitamin E and C. Severely obese children present a highly altered oxidant antioxidant status, which is alarming for the increased risk of complication so early intervention has been recommended by giving antioxidant, diet-control and exercise

Lymphocyte apoptosis and proliferation related gene products in childhood acute lymphoblastic leukemia

The aim of the study is to characterize markers of apoptosis in children with ALL in relation to treatment outcome of the disease. The study was performed on 34 children with ALL and 60 healthy children as a control group. Apoptosis was assessed by cell morphology; DNA fragmentation; ELISA and RT-PCR for CD95, CD95L, BcL2 and NF-KB; and flowcytometry for CD95, CD40, CD49d, and CD11a. Apoptosis was significantly lower in cases than controls. Apoptosis detected by CD95 ligand was significantly lower in cases with no remission after treatment than those with remission. Antiapoptotic factors: CD40, BcL2, and NF-KB were all found to be higher in cases than controls and in cases with no remission than those with remission, CD49d was significantly lower in cases than controls, and significantly lower in cases with no remission. CD11a levels were not different among various groups. Delayed apoptosis of ALL cells is genetically controlled either directly or indirectly by a network of oncogenes and tumor suppressor genes. CD40 appeared to stimulate both T and lineage and is considered the most potent influencer and predictor to resistance to therapy. Inhibitors for the activity of CD40, 8c/2 and NF-kB as well as stimulants to CD95 could have a potential therapeutic benefit

Bone mineral density and insulin resistance in patients with turner's syndrome

The aim of this work was to study bone mineral density [BMD], gonadotropins and insulin resistance in girls with Turner's syndrome and its correlation with some growth parameters. This work comprise 14 patients with Tumers syndrome [mean age +/- SD: 11.93 +/- 3.79years] and 14 healthy age matched Egyptian females as a control group. Thorough anthropometric measurements were done for patients and controls and are expressed as standard deviation score utilizing Egyptian growth table for height and international tables for ideal weight for height. Lumber2-lumber4 [L2. L4], BMD was done using dual energy X-ray absorptiometery [DEXA] [using lunar DPXIQ, USA], in Patients and controls and compared to 352 healthy age and sex matched Egyptian controls. Morning blood sample after over night fast was used for estimation of FSH, LH, insulin [Elisa] and blood glucose. Insulin resistance index [IRl] and relative insulin resistance [RIR] were calculated from fasting blood glucose and fasting insulin. The results shows: significant decrease in height with significant increase in weight%to ideal weight for height in turner patients compared to controls with significant higher FSH, LH and increased lRl, RIR while BMD of L2-L4 showed significant osteopenia. Correlation studies shows significant positive correlation between height SD score and L2-L4 BMD and significant negative correlation between it and wt%to ideal weight for height and measures of insulin resistance, FSH awl LH demonstrated negative correlation with L2-L4 BMD and height SD score. Insulin resistance indices demonstrated a positive correlation with wt%to ideal weight for height and negative correlation with BMD. Turner's syndrome is associated with significant short stature, and overweight with significant osteopenia and insulin resistance. Height SD score is positively correlated with BMD and negatively correlated with wt% to ideal wt for height, FSH, LH, IRl and RIR. FSH and LH showed significant negative correlation with BMD

Ambiguous genitalia. Diagnostic difficulties and management dilemma

Abstract: Ambiguous genitalia are considered as a medical and social neonatal emergency

The Aim of This Work: Was to through high lights about the management plan for patients with ambiguous genitalia [AG]

Patients and Methods: The study included 27 patients with [AG] who were admitted at Mansoura University Children's Hospital in the period from 2002-2005. According to age of presentation, they were classified into 2 groups: group I: 24 infants complaining of [AG], group II: 3 patients aged from 15-17 years, 2 of them were male with undervirilization, the third one was reared as a female presented with bilateral inguinal swellings. Performed surgery was divided into: Exploratory surgery, excision of inappropriate tissues, feminizing or masculinizing genitoplasty

Results: The study found that 63% of cases were female pseudohermarphrodite, 18.5% were male pseudohermarphrodite and 11.1% were true hermarphrodite while mixed gonadal dysgenesis was present in 7.4% of cases. Patient characteristics, biochemical changes, radiological findings, surgery performed and postoperative complications, all were reviewed

Conclusion: Many aspects of diagnosis and management of AG are controversial and it is certain that the management is very complex and need to be individualized as much as possible. Index Words: Ambiguous genitalia, genitoplasty, sexual differentiation