CLSI-based transference of the CALIPER database of pediatric reference intervals from Abbott to Beckman, Ortho, Roche and Siemens Clinical Chemistry Assays: direct validation using reference samples from the CALIPER cohort.

Objectives: The CALIPER program recently established a comprehensive database of age- and sex-stratified pediatric reference intervals for 40 biochemical markers. However, this database was only directly applicable for Abbott ARCHITECT assays. We therefore sought to expand the scope of this database to biochemical assays from other major manufacturers, allowing for a much wider application of the CALIPER database.

Autoimmune polyglandular syndrome type 1 in Saudi children.

Objective: To describe the clinical, biochemical, and immunological manifestations of autoimmune polyglandular syndrome type 1 (APS-1) in a Saudi population.

Methods: The medical files of 7 consanguineous Saudi families with 20 affected siblings were retrospectively reviewed. They were followed at the Pediatric Endocrinology Clinic, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia for a mean duration of 6 years (January 2000 to December 2009).

A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations.

Autosomal recessive severe congenital neutropenia (SCN) results from a maturation arrest of granulopoiesis at the level of promyelocytes and apoptosis of myeloid cells. In SCN patients, mutations have been described in the HAX1 gene. Most of the SCN patients who carry nonsense mutations that are common to both transcript variants of the HAX1 gene also exhibit neurological deficits.

A simple, rapid test for the differential diagnosis of glycogen storage disease type 3.

Background: Type 3 glycogen storage disease is an inborn error of metabolism in young infants that often requires extensive workup. However, this disease manifests with few symptoms other than hepatosplenomegaly. At adolescence, this disease may cause myopathy and cardiomyopathy.

Performance characteristics of multiple urinary tumor markers and sample collection techniques in the detection of transitional cell carcinoma of the bladder.

Background: The optimal management of bladder cancer requires early detection of both primary tumor as well as recurrences. This study compared the methodologies of the following tumor markers and diagnostic tools: telomerase, bladder tumor-associated analytes (BTA stat), nuclear matrix protein 22 (NMP22), the hemoglobin (Hb) dipstick and chemiluminometric red cell assays, and determined their respective sensitivity and specificity in detection of bladder cancer along with urine cytology.

Methods: Different sample collection techniques were used including bladder tissue from radical cystectomy or transurethral resection, voided and cystoscopically collected urine and bladder washes.