Genetic Linkage Between the Collagen Type VII Gene COL7A1 and Pretibial Epidermolysis Bullosa with Lichenoid Features

Pretibial epidermolysis bullosa is a rare form of dominant dystrophic epidermolysis bullosa. The disease was diagnosed after considerable delay in a large Belgian family and was remarkable for its late age at onset and its misleading clinical presentation in the proband, which strongly resembled keratosis lichenoides chronica. Both recessively and dominantly inherited forms of dystrophic epidermolysis bullosa have been shown to be linked to the collagen type VII gene, COL7A1. Two-point linkage analysis with two intragenic polymorphisms (PvuII, AluI) in COL7A1 was performed. Strong genetic linkage between the disease in this family and COL7AI was demonstrated by a lod score of 44.5 (theta = 0) for the AluI polymorphism. The observed intrafamilial variability of clinical phenotypes contradicts the presently proposed classification of dominantly inherited dystrophic epidermolysis bullosa

Effect of short range order on electronic and magnetic properties of disordered Co based alloys

We here study electronic structure and magnetic properties of disordered CoPd and CoPt alloys using Augmented Space Recursion technique coupled with the tight-binding linearized muffin tin orbital (TB-LMTO) method. Effect of short range ordering present in disordered phase of alloys on electronic and magnetic properties has been discussed. We present results for magnetic moments, Curie temperatures and electronic band energies with varying degrees of short range order for different concentrations of Co and try to understand and compare the magnetic properties and ordering phenomena in these systems.Comment: 15 pages,17 postscript figures,uses own style file

A Case of Dysplastic Nevus of the External Auditory Canal Presenting with Conductive Hearing Loss

A nevus which is a benign melanocytic neoplasm rarely occurs within the external auditory canal (EAC). A dysplastic nevus presents atypical features both clinically and histologically, and is important as a potential precursor for melanoma. We present a case of a 33-year-old female patient with a dysplastic nevus in her EAC. Physical examination revealed a protruding mass arising from the posterior wall of the left cartilaginous EAC. The mass showed clinically characteristic findings of a melanocytic nevus. The patient underwent excisional biopsy via a transcanal approach under local anesthesia. Histopathological examination revealed an intradermal nevus with atypical melanocytes without pleomorphism. There was no evidence of recurrence two years after surgical excision

Biological Therapies in Immune-Mediated Inflammatory Diseases: Can Biosimilars Reduce Access Inequities?

Biological therapies are an effective treatment for a range of immune-mediated inflammatory diseases (IMIDs), including rheumatoid arthritis, psoriasis, and inflammatory bowel diseases. However, due to their high costs, considerable differences in their utilization exist across the world, even among the various European countries, with many countries restricting access despite professional society guideline recommendations. Adoption of biologics by healthcare providers has been particularly poor in many Central and Eastern European countries. Differences in utilization have also been observed across medical specialties, healthcare providers, and at a regional and national level. The objective of this paper is to provide an overview of the different market access policies for biologics in Europe and to investigate reasons for such differences. One of the potential solutions for providing broader access to IMID patients, where cost is the major barrier, is to encourage the use of biosimilars in place of their reference products. Biosimilars are generally less expensive alternatives to already licensed biological therapies and are approved on the basis that they are similar to the reference product in terms of quality, safety, and efficacy. Budget impact models predict considerable cost savings following the introduction of biosimilars in the next few years. These savings could be used to increase access to biologics and other innovative therapies