A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report.

Background: Rickets can occur due to Vitamin D deficiency or defects in its metabolism. Three rare genetic types of rickets with different alterations of genes have been reported, including: Vitamin D dependent rickets type 1, Vitamin D dependent rickets type 2 or also known as Vitamin D resistant rickets and 25 hydroxylase deficiency rickets. Vitamin D dependent rickets type 1 is inherited in an autosomal recessive pattern, and is caused by mutations in the CYP27B1 gene encoding the 1α-hydroxylase enzyme.

Normal knee angles in the adult Saudi population.

Objective: To study knee angles in the adult Saudi population and compare their values to the published data from other populations.

Methods: Antero-posterior bilateral radiographs of 333 normal knees of 120 males and 213 females, with age range of 18-65 years, were studied retrospectively at King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia, from January 2009 to December 2009. Tibiofemoral (TFA), lateral distal femoral (LDFA), and lateral proximal tibial (LPTA) angles were measured and the mean of each angle was calculated.

Böhler's and Gissane's angles of the calcaneus in the Saudi population.

Objective: The purpose of this study is to measure Böhler s angle (BA) and Gissane s angle (GA) in the Saudi population and compare their values to the published data.

Methods: Lateral plain radiographs of 229 normal feet and ankles of 158 females and 71 males, with age range of 15-72 years, were studied retrospectively at King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia between 2002 and 2003. Böhler's angle and GA were measured and the mean and standard deviation of each angle were calculated.

Rheumatoid arthritis. Radiological changes in the cervical spine.

Objective: To describe the radiographic cervical spine changes in rheumatoid arthritis patients.

Methods: Forty-nine patients (37 females and 12 males) diagnosed with rheumatoid arthritis at King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia, between June 1998 and June 2000, were studied for their radiographic cervical spine changes. Their mean age at disease onset was 41.

Articular chondrocalcinosis in Saudi Arabia.

Objective: To investigate the prevalence of articular chondrocalcinosis in subjects aged 50 years and above in a radiographic survey through 14 primary care clinics in North Riyadh, Kingdom of Saudi Arabia.

Methods: Over a period of 7 months extending from September 1998 to March 1999, 153 patients attending 14 primary care clinics in North Riyadh, Kingdom of Saudi Arabia, were interviewed, examined and then requested to have radiographs of knees (anteroposterior and lateral), wrists and hands. The x-rays were read for the presence of chondrocalcinosis.

Non operative management of blunt bile duct injuries in children.

Bile duct injuries after blunt abdominal trauma are rare in children. This report describes 2 cases of blunt bile duct injuries in children, which were managed non-operatively. One patient sustained partial tear in the right hepatic duct, which was managed successfully by passing a stent into the injured duct during endoscopic retrograde cholangio pancreatography.