Congenital duplication of the palm syndrome: gene analysis and the molecular basis of its clinical features.

Congenital duplication of the palm is a rare syndrome with the following features: the dorsal aspects of both hands have thick palmar skin with no hair or nails; bilateral ulnar ray deficiency; short hypoplastic upper limbs; and severe lower limb abnormalities. In this paper, we report a new case of congenital duplication of the palm syndrome, provide its gene analysis identifying the responsible gene mutation in exon 4 of the WNT7a gene, and detail the molecular basis of its clinical features.

Challenges facing continuing medical education and the Saudi Council for Health Specialities.

As we leave the 20th century, continuing medical education faces many challenges in relation to its effectiveness, efficiency and quality. The young and promising Saudi Council for Health Specialties produces a document on accreditation of continuing medical education, which indicates its interest in this vital subject. This paper aims to enrich the approach to continuing medical education in Saudi Arabia by reviewing the main relevant challenges reported in literature and suggesting that the Saudi Council for Health Specialities may consider developing and implementing a continuing medical education charter that addresses the needs of all stakeholders and emphasizes high quality and cost-effective provision.

Doppler ultrasound evaluation of hemodialysis vascular access.

Brescia-Cimino arteriovenous fistulas (AVF) ad synthetic grafts are the usual forms of vascular accesses for hemodialysis. Although angiography has been the traditional means of imaging these vascular systems, colour Doppler flow imaging (CDFI) offers a non-invasive method of evaluating AVF dysfunction. We retrospectively evaluated 22 patients with clinical evidence of access dysfunction who were studied by CDFI and of whom 14 also underwent angiography. We analyzed the results of whom the 14 patients who had both CDFI and angiography as angiography was impossible in the remaining eight patients due to difficulty with cannulation. Eight patient had thrombosis on CDFI and angiopraphy in all eight patients confirmed these findings. CDFI showed six stenoses, all of which were proven on angiopraphy. Overall,, CDFI correctly identified all lesions that were seen angiographically ginging a sensitivity and specifificity of 100%. Moreover, CDFI detected two cases of pseudoaneurysms which were missed by angiography. CDFI provides an adequate means of evaluating AVF dysfunction and should be the initial imaging technique of choice.