Turner Syndrome Genotype and phenotype and their effect on presenting features and timing of Diagnosis.

BACKGROUND: Turner syndrome (TS) is a common genetic disorder caused by abnormalities of the X chromosome. We aimed to describe the phenotypic characteristics of TS patients and evaluate their association with presenting clinical characteristics and time at diagnosis. METHODS: We studied females diagnosed with TS at King Abdul Aziz Medical City (KAMC), Riyadh between 1983 and 2010. Patients were classified based upon karyotype into females with classical monosomy 45,X (group A) and females with other X chromosome abnormalities (mosaic 45,X/46,XX, Xqisochromosomes, Xp or Xq deletion) (group B). Clinical features of the two groups were analyzed. RESULTS: Of the 52 patients included in the study, 16(30.8%) were diagnosed with classical monosomy 45,X and the rest with other X chromosome abnormalities. Only 19(36.5%) patients were diagnosed in infancy and the remaining during childhood or later (odds ratio (OR) = 4.5,95%CI 1.27-15.90, p=0.02). Short stature was universal in group A versus 77.8% in group B. All patients in group A had primary amenorrhea compared with 63.2% of those in group B (P = 0.04); the rest of group B had secondary amenorrhea. Cardiovascular abnormalities were higher in group A (OR=3.50, 95%CI 0.99-12.29, p-value =0.05). Renal defects and recurrent otitis media were similar in both groups. CONCLUSION: This study suggests that karyotype variations might affect the phenotype of TS; however, it may not reliably predict the clinical presentation. Chromosomal analysis for all suspected cases of TS should be promptly done at childhood in order to design an appropriate management plan early in life.

Health sciences and medical college preadmission criteria and prediction of in-course academic performance: a longitudinal cohort study.

High School, Aptitude and Achievement Tests have been utilized since 2002 in Saudi Arabia for the purpose of student selection to health sciences and medical colleges. However, longitudinal studies determining the predictive validity of these so-called cognitive tests for in-course performance is lacking. Our aim was to assess the predictive validity of Saudi health sciences and medical school pre-admission selection tools for in-course performance over a three year period and therefore we conducted a retrospective review of pre-admission (High School Test, Saudi Aptitude and Achievement tests) and in-course academic performance data (Grade Point Average, GPA) for all students enrolled in undergraduate Health Sciences Colleges and College of Medicine, 2007-2010. Correlation and linear regression analyses were performed for the whole cohort. Data are reported on 87 of 1,905 (4.6 %) students who applied to Health Sciences and Medical Colleges. The results indicate that in-course GPA scores in year three were significantly positively correlated with High School (r = 0.65; p < 0.05), Aptitude (r = 0.65; p < 0.05) and Achievement (r = 0.66; p < 0.05) selection test scores. Furthermore, the High School Exam was the best predictor of achievement in year three. Regression analysis revealed that 54 % of the variance in predicting academic performance is explained by the three test scores. Results confirmed our hypothesis that High School, Aptitude and Achievement tests are statistically predictive of academic performance in health sciences and medical colleges. Further longitudinal, national work is nevertheless required to determine the extent to which pre-admissions cognitive and non-cognitive tests, socio-demographic and educational process variables predict undergraduate and postgraduate achievement and performance.

Prevalence of autoantibodies in children newly diagnosed with type 1 diabetes mellitus.

Type 1 diabetes mellitus (T1DM) is an increasingly encountered chronic illness in Saudi Arabia. It is known to have an immune-mediated pathogenesis, which results in the loss of insulin-secreting beta-cells responsible for maintaining normal blood glucose levels. The three main autoantibodies identified to play a role in the pathogenesis are islet cell antibodies (ICA), insulin autoantibodies (IAA) and glutamic acid decarboxylase antibodies (GAD). This study aims to determine at what age during childhood the autoantibodies ICA, IAA and GAD are most prevalent, and identify any correlation between their presence and the severity of the initial clinical presentation. Medical records of children diagnosed with T1DM in Riyadh in 2000-2007 were reviewed, and a total of 98 patients were included in the study (age range: 1-12 years, mean: 6.6 years, equal numbers by gender), of which 49% presented with diabetic ketoacidosis (DKA). Results showed that 67% were positive for ICA, 36% for IAA and 84.4% for GAD. The presence of ICA was predominant in children aged under six years. The presence of ICA and GAD in the absence of IAA was associated with more severe clinical presentation.

The progress test as a diagnostic tool for a new PBL curriculum.

CONTEXT: The College of Medicine at King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) is running a PBL-based curriculum. A progress test was used to evaluate components of the basic medical and clinical sciences curriculum. OBJECTIVE: To evaluate the performance of students at different levels of the college of medicine curriculum through USMLE-based test that focused on basic medical and clinical sciences topics. METHODS: The USMLE-based basic medical and clinical sciences progress test has been conducted since 2007. It covers nine topics, including: anatomy; physiology; histology; epidemiology; biochemistry; behavioral sciences, pathology, pharmacology and immunology/microbiology. Here we analyzed results of three consecutive years of all students in years 1-4. FINDINGS: There was a good correlation between progress test results and students' GPA. Progress test results in the clinical topics were better than basic medical sciences. In basic medical sciences, results of pharmacology, biochemistry, behavioral sciences and histology gave lower results than the other disciplines. CONCLUSIONS: Results of our progress test proved to be a useful indicator for both basic medical sciences and clinical sciences curriculum. Results are being utilized to help in modifying our curriculum.

Epidemiology of nutritional rickets in children.

In most developing countries, nutritional rickets is a major health problem. The aim of this study was to explore the magnitude of nutritional rickets among Saudi infants, and the various clinical presentations, as well as to address the possible operating risk factors behind the disease. We carried out a retrospective study at King Abdulaziz Medical City-King Fahad National Guard Hospital in Riyadh, Saudi Arabia. The records of Saudi infants under the age of 14 months over a 10-year period (between January 1990 and January 2000) were reviewed. Infor-mation collected included age, sex, clinical presentations, biochemical, radiological findings, infant nutrition, presence of other nutritional deficiencies and exposure to sunlight. There were 283 infants diagnosed with nutritional rickets due to Vitamin D deficiency (67% males) who were between 6 and 14 months of age. Among the total, 70% were exclusively breast-fed, and 23% were breast-fed until the age of 1 year. The most frequent clinical presentation was hypo-calcemic convulsions (34%) followed by chest infections (33%) and gastroenteritis (25%). In conclusion, nutritional rickets is still prevalent in Saudi Arabia with the primary etiology being vitamin D deficiency. Therefore we recommend that every infant, who is exclusively on breast-feeding, has routine supplement of vitamin D in the range of 200 IU/day (alone or as apart of multivitamin), started soon after birth until the time of weaning.

Integration of evidence based medicine into a medical curriculum.

The College of Medicine at King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) was established in January 2004. The four-year curriculum was based on the Problem Based Learning (PBL) format and involved the web-based graduate medical program adopted from the University of Sydney, Australia. At KSAU-HS, one additional semester was added to the beginning of this curriculum to prepare the students in English language skills, PBL, Information Technology and Evidence Based Medicine (EBM). EBM is part of the Personal and Professional Development (PPD) theme of the medical curriculum and is integrated into each stage of the medical curriculum. These modifications of the University of Sydney curriculum are presented here as a model of EBM integration into a college of medicine curriculum.

Clinical utility of adrenal ultrasonography in the diagnosis of congenital adrenal hyperplasia.

Rapid, accurate diagnosis of congenital adrenal hyperplasia (CAH) is essential in the neonate with ambiguous genitalia, life-threatening salt loss, or both. We aimed to determine the accuracy of adrenal ultrasonography in the diagnosis of CAH in a retrospective analysis of 52 children with ambiguous genitalia or salt-losing crises. Adrenal ultrasounds were interpreted as follows: "normal" if the adrenals were normal in size (adrenal limb width <4 mm), had a smooth surface, and a central echogenic stripe with a hypoechoic rim, and "abnormal" if they were increased in size (limb width >4 mm), had a lobulated or cerebriform surface, or showed abnormal echogenicity. Group 1 consisted of 25 neonates and infants with CAH; group 2, 19 children with conditions other than CAH; and group 3, 8 with treated CAH: 7 receiving replacement therapy and 1 whose mother received glucocorticoids during pregnancy. In all children in groups 2 and 3, adrenal ultrasounds were read as normal. In group 1 adrenal ultrasonography was normal in 2 (8%) and abnormal in 23 (92%). Thus adrenal ultrasonography has a sensitivity of 92% and a specificity of 100% for diagnosing CAH. Adrenal ultrasonography is a highly sensitive and specific adjunct in the diagnosis of CAH. The presence of enlarged, lobulated adrenals with stippled echogenicity is invariably associated with CAH.