Accurate determination of Biotinidase activity in serum by HPLC and its utilization as second tier test for the confirmation of initial positive newborn screening results.

Diagnosis of Biotinidase deficiency (BTD) is extremely important to avoid several neurodevelopmental problems in early childhood. Colorimetric and fluorometric methods lack specificity and selectivity due to several interferences resulting in a high number of false positive results. We developed an HPLC method for BTD activity in serum with fluorescent detection.

Psychosocial Development in Saudi Adolescents With Type 1 Diabetes Mellitus: A Descriptive Comparative Study.

Background Diabetes mellitus imposes a significant psychological and social burden on the affected individuals. The impact of type 1 diabetes mellitus (T1DM) on psychosocial development has not been well investigated in the literature. We aim to fill the aforementioned gap by conducting a comparative study to accurately assess the impact of this chronic disease on psychosocial development among adolescents in Saudi Arabia.

Cut-off values in newborn screening for inborn errors of metabolism in Saudi Arabia.

Background: Newborn screening identifies individuals affected by a specific disorder within an apparently healthy population prior to the appearance of symptoms so that appropriate interventions can be initiated in time to minimize the harmful effects. Data on population based cut-off values, disease ranges for true positive cases, false positive rates, true positive rates, cut-off verification and comparisons with international cut-off ranges have not been done for Saudi Arabia.

Objective: Establish population-based cut-off values and analyte ratios for newborn screening assays and clinically validate the values.

Massive Gastrointestinal Haemorrhage Unusual Presentation of Gastrointestinal Stromal Tumors of the Jejunum: Case Report and Literature Review.

Although gastrointestinal stromal tumors (GISTs) are rare tumors, they are the most common tumors of mesenchymal origin of the gastrointestinal tract. GISTs present with nonspecific clinical manifestation and they are discovered incidentally during endoscopic or radiological investigations. Massive life-threatening bleeding that requires urgent surgery is rare.

Young-onset colorectal cancer in New South Wales: a population-based study.

Objective: Australia has the highest incidence of colorectal cancer (CRC) in the world. The incidence of young-onset CRC (yCRC) is increasing in developed nations. Our aim was to determine the incidence of yCRC in New South Wales, the demographic and clinico-pathological characteristics of these patients, and their survival.