COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type.

Spondylometaphyseal dysplasia Algerian type (SMD-A) is an autosomal dominant disorder that was first reported in an Algerian family by Kozlowski et al. [Pediatr Radiol 1988;18:221-226]. Kozlowski's group reported a sporadic case in a 12-year-old Polish boy.

A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.

Desbuquois dysplasia (DBQD) is a severe skeletal dysplasia of autosomal recessive inheritance. DBQD is classified into types 1 and 2 based on presence or absence of hand anomalies. In a previous study, we found a CANT1 (for calcium-activated nucleotidase 1) mutation, c.

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.

Background: Desbuquois dysplasia (DD) is a recessively inherited condition characterised by short stature, generalised skeletal dysplasia and advanced bone maturation. DD is both clinically and radiographically heterogeneous, and two subtypes have been distinguished based on the presence (type 1) or absence (type 2) of an accessory metacarpal bone. In addition, an apparently distinct variant without additional metacarpal bone but with short metacarpals and long phalanges (Kim variant) has been described recently.

Poor results of the cementless total hip arthroplasty with a nonporous coated acetabular component: AcSys Shearer Cup.

Background: This study followed patients for a minimum of 7 years after primary total hip arthroplasty using cementless acetabular components and evaluated their outcomes.

Methods: We followed 73 patients (75 hips), who had undergone total hip arthroplasty with cementless nonporous coated acetabular components (3M AcSys Shearer Cup) for a mean of 9.8 years (range 7-13 years).

A filamentous phage of Vibrio parahaemolyticus O3:K6 isolated in Laos.

A filamentous phage, 'lvpf5,' of Vibrio parahaemolyticus O3:K6 strain LVP5 was isolated and characterized. The host range was not restricted to serotype O3:K6, but 7 of 99 V. parahaemolyticus strains with a variety of serotypes were susceptible to the phage.