Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India.

Introduction: Alkaptonuria (AKU) is a rare metabolic disease. The global incidence is 1:100,000 to 1:250,000. However, identification of a founder mutation in a gypsy population from India prompted us to study the prevalence of AKU in this population and to do molecular typing in referred cases of AKU from the rest of India.

A simplified staging system based on the radiological findings in different stages of ochronotic spondyloarthropathy.

This study describes a group of 26 patients with ochronotic spondyloarthropathy who were on regular treatment and follow-up at a tertiary level hospital and proposes a simplified staging system for ochronotic spondyloarthropathy based on radiographic findings seen in the thoracolumbar spine. This proposed classification makes it easy to identify the stage of the disease and start the appropriate management at an early stage. Four progressive stages are described: an inflammatory stage (stage 1), the stage of early discal calcification (stage 2), the stage of fibrous ankylosis (stage 3), and the stage of bony ankylosis (stage 4).

Idiopathic chondrolysis of the hip: medium- to long-term results.

Background: Chondrolysis of the hip secondary to severe trauma, prolonged immobilization and slipped capital femoral epiphysis have been well documented. There have not been many reports, however, of idiopathic chondrolysis of the hip. We here present our experience with 21 hips with an average follow-up of 23.