Molecular screening of CFTR gene in Egyptian patients with congenital bilateral absence of the vas deferens: a preliminary study.

In the current study, we enrolled 14 Egyptian infertile males with isolated congenital bilateral absence of the vas deferens (CBAVD). Screening for the most commonly reported 36 CFTR mutations, and the intron 8 (T)n splice variant was performed by multiplex PCR followed by reversed hybridisation. Samples with the 5T variant were picked for DNA sequencing of intron 8/exon 9 region to identify the number of adjacent TG repeats. The p.Phe508del and the p.Ser1251Asn mutations were detected in heterozygous state in three patients (10.7% of alleles) and in one patient (3.6% of alleles), respectively, while the 5T variant was detected in five patients (28.6% of alleles). Among those five patients, four had TG12 repeats and one had TG13 repeats confirming the pathogenic penetrance of all 5T alleles in Egyptian CBAVD patients. The allelic frequencies of the mutations p.Phe508del, p.Ser1251Asn and the 5T variant in 60 Egyptian cystic fibrosis patients were 24.2%, 3.3% and 2.5% respectively. The mutation p.Ser1251Asn was detected for the first time in isolated CBAVD patient in our study. Due to the high prevalence of p.Phe508del mutation and 5T variant in Egyptian CBAVD patients, we recommend their screening initially, ideally followed by full CFTR gene sequencing in unidentified patients.

Serum Sclerostin Level Among Egyptian Rheumatoid Arthritis Patients: Relation to Disease Activity, Bone Mineral Density and Radiological Grading.

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INTRODUCTION: Bone loss in rheumatoid arthritis is caused by increased bone resorption without increasing bone formation. The Wnt pathway is important in the control of bone formation through the regulation of osteoblast activity. Sclerostin is an important regulator of the Wnt pathway by blocking Wnt binding to its receptor and thereby inhibiting bone formation. AIM: This study aimed to assess the serum sclerostin level in a group of Egyptian rheumatoid arthritis patients and to correlate its level with bone mineral density, disease activity and radiological grading. METHODS: Forty rheumatoid arthritis patients (mean age 48.9 ± 11.6 years, disease duration 8 ± 6.4 years) and 40 age and sex matched apparently healthy subjects were included. Serum sclerostin level was measured using Enzyme linked Immunosorbent Assay. Plain radiographs of hands and feet and dual-energy x-ray absorptiometry test were done for all patients. RESULTS: No significant difference was found between rheumatoid arthritis patients and healthy controls as regard mean value of sclerostin level. Postmenopausal healthy women had higher levels of sclerostin than premenopausal healthy women only. Serum sclerostin had significantly positive correlations with the age of onset and weight of rheumatoid arthritis patients and negative correlation with Erythrocyte Sedimentation Rate. No correlation was encountered between sclerostin level and bone mineral density, disease activity or radiographic grading. CONCLUSION: For better clarification of the role of sclerostin on bone mass in rheumatoid arthritis, larger sample size is needed. More studies on serum sclerostin levels among different grades of RA activity are encouraged.