Prevalence of mutations within major hydrophilic region of hepatitis B virus and their correlation with genotypes among chronically infected patients in Egypt.

BACKGROUND AND STUDY AIMS: Mutations within the major hydrophilic region (MHR) of the hepatitis B surface antigen (HBsAg) have been reported in relation to viral persistence by evasion from vaccine and immunotherapy, severity of liver disease and lack of detection by commercial kits. The aim of this study was to elucidate the circulation of hepatitis B virus (HBV) genotypes, subgenotypes and serotypes in Egypt, with recognition of the pattern and prevalence of MHR mutations possibly occurring during the course of the disease. PATIENTS AND METHODS: Eighty-eight samples from patients with chronic HBV infection were included in the study. The surface protein-encoding gene (S gene) in the HBV genome was subjected to amplification and partial sequencing. RESULTS: Based on phylogenetic analysis, only genotype D was found circulating among patients. The majority of isolates belonged to subgenotype D3 (86.3%), followed by D7 (8%), then D5 (3.4%) and lastly D1 (2.3%). Two subtypes were identified: ayw2 (97%) and ayw3 (2%). The 'w' sub-determinant was not defined in one isolate (1%). A significant proportion of patients (13/88, 14.8%) exhibited mutations in the MHR, 10 of whom harboured mutations in the 'a' determinant region and three outside. The first loop comprised four patients with three mutations (P127S, P127T and Y134F). The second loop contained six patients, all with one mutation, S143L, which was most frequently encountered in this study (6.8%). CONCLUSIONS: We conclude that genotype D, subgenotype D3 and HBsAg subtype ayw2 are the most common types circulating in Egypt, which account for 100%, 86.3% and 97% of the population, respectively, with a moderate degree of MHR mutations.

Blood spot versus plasma chitotriosidase: a systematic clinical comparison.

OBJECTIVES: This study aimed to evaluate the agreement between blood spot and plasma chitotriosidase using the economic substrate 4-methylumbelliferyl-ß-D-N,N',N"-triacetylchitotrioside, and to investigate the utility of the blood spot assay for the wide scale screening for lysosomal storage disorders among the clinically suspected. DESIGN AND METHODS: Blinded blood spot samples were compared with the corresponding plasma levels in 199 children (56 with confirmed diagnoses of ten different lysosomal storage disorders, 73 normal controls and 70 pathological controls). Several performance criteria (limit of detection, linearity, within-run and day-to-day precision and sample stability) were also evaluated. RESULTS: Plasma assay performed better by most criteria; however, blood spot performance was quite satisfactory. Quantitative values of the two methods can't be used interchangeably based on their 95% limits of agreement. Diagnostic sensitivity and specificity derived from ROC curves were 75.0 and 85.3% for the plasma assay and 71.4 and 79.0% for the blood spot assay, respectively. Cohen's kappa was 0.72 (95% CI: 0.616-0.821) denoting a good categorical agreement between the two methods. CONCLUSION: The clinical use of blood spot chitotriosidase for the screening of lysosomal storage disorders can be quite practical, provided proper cut-off values are determined for each lab.

Enoxaparin versus unfractionated heparin in the management of recurrent abortion secondary to antiphospholipid syndrome.

OBJECTIVE: To determine whether low molecular weight heparin (LMWH) plus low-dose aspirin (LDA) is comparable in efficacy and safety to unfractionated heparin (UFH) plus LDA in the management of pregnant women with a history of recurrent spontaneous abortion secondary to antiphospholipid syndrome (APS). METHODS: In a randomized prospective study, 60 women with a history of 3 or more consecutive spontaneous abortions and positive antiphospholipid antibodies were assigned in equal numbers to receive either UFH (5000 units, twice daily) plus LDA, or LMWH (enoxaparin 40 mg, once daily) plus LDA as soon as pregnancy was diagnosed. RESULTS: Twenty-four women in the LMWH group (80%) and 20 women in the UFH group (66.67%) delivered a viable infant (P = 0.243). There were no significant differences in pregnancy complications or neonatal morbidity between the 2 groups. There were no incidences of excessive bleeding, thrombocytopenia, or osteoporotic fractures in either group. CONCLUSION: LMWH plus LDA was successfully used as an alternative to UFH plus LDA in the management of recurrent abortion secondary to APS. The results highlight the need for a larger randomized controlled trial to determine whether LMWH plus LDA should be the treatment of choice for recurrent abortion secondary to APS. Clinicaltrials.gov NCT01051778.