Prevention programs for b-thalassemia based on molecular diagnosis of heterozygous carriers and/or patients require the use of reliable mutation screening methods. The aim of this study was to compare between direct DNA sequencing, and reverse dot-blot PCR in detection of different b-globin gene mutations in Egyptian children with b-thalassemia. Forty children with b-thalassemia were subjected to mutation analysis, performed by both direct DNA sequencing and b-globin , and cd39 C[T (2.5 %)'', While the genotypes of three patients (6 alleles 7.5 %) were not detected by reverse dot-blot PCR. Mutant alleles detected by direct DNA sequencing were the same as reverse dot-blot PCR method except it revealed the genotypes of 3 undetected patients (one patient was homozygous IVSI-110 G[A, and two patients were homozygous IVS I-1 G[A. Sensitivity of the reverse dot-blot PCR was 92.5 % when compared to direct DNA sequencing for detecting b-thalassemia mutations. Our results therefore suggest that, direct DNA sequencing may be preferred over reverse dot-blot PCR in critical diagnostic situations like genetic counseling for prenatal diagnosis.
Egypt like other developing countries use pesticides widely to increase crops production and prevent spread of vector-borne diseases. However, pesticides poisoning is considered as a public health problem as it is associated with high morbidity and mortality. Objectives: evaluation the red cell distribution width (RDW), neutrophil lymphocyte ratio (NLR) and platelet lymphocyte ratio (PLR) as prognostic markers in acutely pesticide-poisoned patients. Methodology: eighty patients with acute pesticide poisoning who admitted to Toxicology Unit of Emergency Hospital, Tanta University, were classified into three groups according to their outcome. Three mL of venous blood were drawn for performing complete blood count (CBC), and were analyzed by hematology analyzer machine. The RDW, NLR, and PLR were assessed. Results: Patients of group (3) had the significant highest total WBCs, neutrophils and platelets counts (P<0.001). Significant lymphopenia was found in patients of group (3). Moreover, group (3) had significantly higher RDW% (15.49±.91), NLR (median 8.63, IQR 7.00-10.33) and PLR (362.51±59.45) than groups 1 & 2 (P<0.001). ROC curves showed cut off values of RDW% ≥14.3 (sensitivity 93.8% and specificity 83.3%), NLR ≥ 6.49 (sensitivity 87.5% and specificity 95.8%), and PLR ≥ 292.87 (sensitivity 87.5% and specificity 91.7%). These parameters were significantly related to the patients outcome (p<0.001). Plasma cholinesterase enzyme activity was correlated significantly and negatively with RDW%, NLR and PLR (P<0.001). Conclusion: Measured RDW%, NLR, and PLR are useful, valuable, inexpensive and easily accessible parameters in estimating prognosis and the follow-up of patients with acute pesticides poisoning.
Background: Hepatocellular carcinoma (HCC) is one of the most prevalent life threatening human cancers. Early detection of HCC remains a major challenge. Since alpha-fetoprotein (AFP), the most widely used biomarker for HCC surveillance and detection has limited utility for early stage disease, it is necessary to identify new serologic biomarkers with sufficient sensitivity and specificity for early detection. Aim of the Work:The aim of the study is to evaluate serum osteopontin (OPN) as a novel biomarker for diagnosis of HCC in Egyptian patients. Subject and Method:This study included 3 groups: Group I (control) included 30 apparently healthy subjects, group II (cirrhosis) included 30 patients with liver cirrhosis without HCC, group III (HCC) included 30 patients with HCC. All groups were subjected to the following: Full history taking, thorough clinical examination, abdominal ultrasonography, triphasic C.T, routine laboratory investigations, serum AFP, hepatitis markers and determination of serum osteopontin levels.Results: This study proved a statistically significant increase in the mean values of both serum AFP and OPN levels in HCC group when compared to both control group and cirrhotic group, in contrast there was no statistically significant difference in cirrhotic group when compared to control group. OPN at an optimal cut-off of 95 ng/ml had a better performance than AFP at a cut-off of 23 ng/ml for HCC diagnosis. The sensitivity and specificity for HCC diagnosis were 61.54 and 82.35 vs. 46.15 and 88.24. Conclusion:In the present study, we concluded that serum OPN has a better diagnostic performance than AFP for detection of HCC in Egyptian patients so, it may be considered as a promising HCC biomarker for diagnosis, particularly for those with negative AFP.
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