Diagnostic and New Therapeutic Approaches to Two Challenging Pediatric Metabolic Bone Disorders: Hypophosphatasia and X-linked Hypophosphatemic Rickets.

The diagnosis and management of metabolic bone disease among children can be challenging. This difficulty could be due to many factors, including limited awareness of these rare conditions, the complex pathophysiology of calcium and phosphate homeostasis, the overlapping phenotype with more common disorders (such as rickets), and the lack of specific treatments for these rare disorders. As a result, affected individuals could experience delayed diagnosis or misdiagnosis, leading to improper management.

Development of apigenin loaded gastroretentive microsponge for the targeting of .

The goal of the present work was to invent an apigenin-stacked gastroretentive microsponge to target . The quasi-emulsion technique was used to prepare microsponges, which were then tested for various physicochemical properties, in-vivo gastric retention, and in-vitro anti-H. pylori study.

Subclinical Neuropathy in Children With Type I Diabetes Mellitus: Tertiary Care Centre Experience.

Introduction: Diabetic peripheral neuropathy is a common complication of diabetes mellitus (DM) type 1. However, it can occur without evidence of symptoms or clinical signs of neuropathy labeled as subclinical neuropathy, which neurophysiological studies can best detect.

Purpose: To evaluate the prevalence of subclinical neuropathy among children with DM type 1, determine the association with blood sugar control, and evaluate the pattern of nerve involvement in neurophysiological studies.

Does physician distraction lead to diagnostic and management errors? An exploratory study in the primary care setting.

Objectives: There is an increasing concern about diagnostic errors and their impact on patient safety. Physicians' diagnostic ability is significantly undermined by certain distractions that can carry potential negative consequences such as diagnostic and management errors. This study aimed to examine the effects of distracting factors for physicians during consultation and their consequent effects on diagnostic accuracy and disease or condition management.

Testosterone- and Cortisol-secreting Oncocytic Adrenocortical Adenoma in the Pediatric Age-group.

Oncocytic tumors are epithelial neoplasms that occur in various organs, including adrenal glands. Oncocytic adrenocortical adenomas and carcinomas are uncommon but well-known pathological entities in adults. However, generally oncocytic tumors, particularly in the adrenal glands, are very rare in the pediatric age-group.

Does Time Pressure Have a Negative Effect on Diagnostic Accuracy?

Purpose: Studies suggest time pressure has negative effects on physicians' working conditions and may lead to suboptimal patient care and medical errors. Experimental evidence supporting this is lacking, however. This study investigated the effect of time pressure on diagnostic accuracy.

Effect of course coordinator behavior and motivation on students' achievement: Results from five curriculum blocks of two undergraduate student cohorts at King Saud bin Abdulaziz University of Health Sciences.

Objective: The purpose of the study was to assess the relationship between students' perception of course/block coordinators performance and attributes with students' assessment scores in respective courses.

Methods: This retrospective data based study was conducted at the College of Medicine, King Saud bin Abdulaziz University of Health Sciences (KSAU-HS). It was started in March 2013 and completed in June 2013 after the graduation of the fourth cohort.

Pubertal characteristics among schoolgirls in Riyadh, Saudi Arabia.

Puberty is the gradual transition period between childhood and adulthood. Many factors may contribute to the onset of puberty. The objective of the study was to determine the age of onset of secondary pubertal characteristics among Saudi Arabian girls.

Accreditation and culture of quality in medical schools in Saudi Arabia.

Saudi Arabia (SA), the largest country in the Gulf Region, has witnessed unprecedented expansion in undergraduate medical education (UME) with more than 200% increase in medical schools over the last five years. Such rapid expansion creates major challenges in relation to quality of outcomes to the extent that some authors argue that SA needs reform similar to Abraham Flexner. This may explain the strong movement towards accreditation of UME in SA but it is important to reflect on purpose of accreditation and learn from the experience of developed countries.

Diagnosed congenital hypothyroidism with missing follow-up: is it time for a national registry?

A treatable and preventable disorder, congenital hypothyroidism (CH) is still a common cause of mental retardation. A 17-year-old Saudi boy with CH due to an ectopic thyroid gland was diagnosed by the neonatal screening program.Thyroxine replacement therapy was started for one month when the family chose to discontinue medication and follow-up.

Prevalence of Metabolic Abnormalities and Association with Obesity among Saudi College Students.

Aim. (i) To estimate the prevalence of the metabolic abnormalities among Saudi college students in Riyadh, Saudi Arabia, and (ii) to investigate the association between different indicators of body composition and these abnormalities. Methods.

Medical intervention in a constitutionally tall child.

Constitutionally tall stature (CTS) in children is a normal variant of growth within populations. Based mainly on psychological factors, sex steroids have been prescribed since the 1950s to induce puberty, as a mean to reduce final adult height. Controversy remains in the treatment of CTS, as well as lack of established criteria for initiating treatment.

Permanent neonatal diabetes: different aetiology in Arabs compared to Europeans.

Objective: Mutations in the KCNJ11 and ABCC8 genes that encode the pancreatic K(ATP) channel are the commonest cause of permanent neonatal diabetes mellitus (PNDM). The authors aimed to define the genetic causes of PNDM in a large cohort of Arab patients and compare them with a British cohort tested in the same laboratory.

Design: Retrospective observational study.

Saudi Meds: a competence specification for Saudi medical graduates.

A national competence framework has been developed by medical schools in the Kingdom of Saudi Arabia. The framework has seven domains - approach to daily Practice, Dr and patient, Dr and community, communication skills, professionalism, Dr and information technology, Dr and research. The framework will guide curriculum development and assessment in the Kingdom and ensure that medical education adapts to changing needs.

Age- and gender-specific reference intervals for serum lipid levels (measured with an Advia 1650 analyzer) in school children.

Background: Due to the lack of country-specific norms in Saudi Arabia, age- and gender-specific lipid reference intervals are needed to be established for Saudi children.

Methods: Blood samples were collected from 1168 children aged 6-16 years: 500 boys (43%) and 668 girls (57%), and were analyzed for cholesterol, high-density lipoprotein (HDL) and low-density lipoprotein (LDL). Reference intervals were established by calculating the mean and the 2.

Two siblings with familial chylomicronemia syndrome: disease course and effectiveness of early treatment.

There are no adequate data that evaluate the safety and effectiveness of lowering triglyceride levels in very young children. The authors report a family with two male siblings, 7 and 4 years old, affected by familial hyperchylomicronemia. The oldest was diagnosed at birth during evaluation of jaundice, and the youngest showed asymptomatic hypertriglyceridemia by 6 months of age.

Association between scores in high school, aptitude and achievement exams and early performance in health science college.

This retrospective study was carried out to assess the correlation between admission criteria to health science colleges, namely, final high school grade and Saudi National Aptitude and Achievement exams, and early academic performance in these colleges. The study included 91 male students studying in the two-year pre-professional program at the King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi Arabia. Records of these students were used to extract relevant information and their academic performance (based on the grade point average achieved at the end of the first semester of the pre-professional program), which were analytically studied.

The syndrome of septo-optic dysplasia in Saudi children.

Objective: To describe the clinical, ophthalmological, endocrinological and radiological features of 10 Saudi children with the syndrome of septo-optic dysplasia and hypothalamic hypopituitarism.

Methods: All patients underwent complete ophthalmological and endocrinological evaluation at the Pediatric Endocrine Clinics, King Faisal Specialist Hospital and Research Center and King Fahad National Guard Hospital, Riyadh, Kingdom of Saudi Arabia, from October 1999 through to May 2004. The hormonal evaluation included growth hormone, adrenocorticotrophic hormone, thyroid stimulating hormone, gonadotropin and anti diuretic hormone testing, and the neuroradiological assessment included brain magnetic resonance imaging or computed tomogram scanning, or both.