Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by mutation in resource limited countries.

Objectives: Vitamin D dependent rickets type 1A (VDDR1A) is a rare autosomal recessive condition due to inactivating mutation of . It mimics clinically, biochemically and rediologically to nutritional and hypophosphatemic rickets. In developing countries like Pakistan, VDDR1A is often misdiagnosed as nutritional rickets or hypophosphatemic rickets due lack of free access to 1,25 (OH) 2 D level and genetic testing.

Identification of novel potential genetic predictors of urothelial bladder carcinoma susceptibility in Pakistani population.

Urothelial bladder carcinoma (UBC) is the most common among urinary bladder neoplasms. We carried out a preliminary study to determine the genetic etiology of UBC in Pakistani population, for this 25 sequence variants from 17 candidate genes were studied in 400 individuals by using polymerase chain reaction-based techniques. Multivariate logistic regression analysis was performed for association analysis of the overall data as well as the data stratified by smoking status, tumor grade and tumor stage.

Childhood primary angiitis of the central nervous system.

Objective: To analyze the clinical course and magnetic resonance angiographic (MRA) abnormalities in children with primary angiitis of the central nervous system (cPACNS).

Study Design: Cohort study.

Place And Duration Of Study: Neurosciences and Neuroradiology Department of the Children's Hospital, Lahore, from January 2009 to December 2010.

The spectrum of neurodegeneration in children.

Objective: To find out the spectrum of diagnosis, clinical presentation and role of neuroimaging in neurodegenerative disorders of childhood.

Design: Observational study.

Place And Duration Of Study: Department of Neurology, Children's Hospital, Lahore from June, 2004 to May, 2005.

Kyphoplasty for salvage of a failed vertebroplasty in osteoporotic vertebral compression fractures: case report and surgical technique.

Osteoporotic vertebral compression fractures are a significant source of morbidity. Recently described techniques of vertebroplasty and kyphoplasty have provided consistent successful outcomes in the short term. However, techniques to address the failure of vertebroplasty have not been addressed.

Infrapectineal plating for acetabular fractures: a technical adjunct to internal fixation.

Acetabular fractures with medial displacement patterns, particularly medial displacement of the quadrilateral surface, may be technically challenging to treat. Minimal bone stock, limited anatomic access, and difficulty in obtaining stable internal fixation in the true pelvis contribute to the surgical challenge of open reduction and internal fixation. Applying a medial buttress plate across the quadrilateral plate below the iliopectineal line in the true pelvis can be a helpful adjunct to internal fixation in these fractures.

Implant design affects markers of bone resorption and formation in total hip replacement.

Concentrations of the bone resorption markers pyridinoline and deoxypyridinoline and the bone formation marker osteocalcin were measured in 24-h urine collections from 30 subjects who underwent unilateral total hip replacements for monoarticular symptomatic osteoarthrosis and 10 controls. The patient groups were divided based on the femoral implant type (cemented cobalt alloy stem, cementless porous coated cobalt alloy stem, and cementless porous coated titanium alloy stem). Urine collections were performed before surgery and then at 3, 6, 12, 24, and 36 months.