Phenotype in novel Xp duplication

A novel duplication of Xp is described. A 20-year-old man had minor anomalies ichthyosis, congenital heart defect, varicose veins, and hypogonadotropic hypogonadism. He had an interstitial duplication of approximately 2.8?Mb from chromosome region Xp22.31p22.2. His similarly affected brother and asymptomatic mother were shown to carry the same duplication. Knowledge about this duplication and its resultant phenotype will add to our understanding of the role of X chromosome duplications. ? 2012 Wiley Periodicals, Inc.     

A rare case report of peri-implant bone necrosis: Mapping the distance of initial peri-implant complication toward a path of success

In the past decade, science of implant placement has greatly advanced and at the same time much success has been experienced with the endosseous implant. Despite the long-term predictability of the implants, however, biological, technical and esthetic complications do occur. The use of osseointegrated implants as a foundation for prosthetic replacement of missing teeth has been highly predictable, but still at present, there is no consensus of how to best manage the complications occurring after implant placement. In this report, we discuss post-insertion complication of bone necrosis and its successful management.     

Anatomic study of the middle genicular artery

PURPOSE: To study the anatomy of the middle genicular artery and thus mitigate the risk of vascular injury in knee surgery. METHODS: The course, anatomic relations, and variations of the middle genicular artery in 8 cadavers (4 men and 4 women) were studied. RESULTS: The middle genicular artery originated from the anterolateral surface of the popliteal artery in the popliteal fossa, 3 to 5 cm proximal to the joint line either alone or having a common origin with the lateral genicular artery. Its diameter varied from 2 to 4 mm and it was 3 to 5 cm long. It was accompanied by 2 venae comitantes. This vascular bundle, including the middle genicular artery, ran distally, anterior to the popliteal artery, and posterior to the joint capsule, sandwiched between them. Distally it pierced the posterior joint capsule and became intra-articular. The relation of the middle genicular artery to the popliteal artery altered with the position of the knee joint. This alteration was secondary to the distal gliding of the popliteal artery with knee flexion. The middle geniculate artery formed an angle of 15 to 30 degrees to the popliteal artery when the knee was extended, which became almost a right angle when the knee was flexed past 90 degrees. CONCLUSION: Care must be taken when arthroscopic or open intra-articular surgery is performed in the posterior part of the knee joint using chondrotomes and saws, particularly with limited vision. Sharp dissection and diathermy under direct vision should be safer.     

Hyperimmunoglobulin E syndrome

Hyperimmunoglobulin E (HIE) syndrome is a primary immunodeficiency disorder characterized by recurrent bacterial infections in presence of very high serum Ig E levels. We are reporting a nine-year-old child with HIE syndrome and reviewing literature on this disease.