T1 and T2 ADAM33 single nucleotide polymorphisms and the risk of childhood asthma in a Saudi Arabian population: a pilot study

Genetic association studies have demonstrated that over 100 variants in target genes [including ADAM33] are associated with airway remodeling and hyper-responsiveness in different ethnic groups; however, this has never been evaluated in Arabic populations. The objective of this study was to determine whether ADAM33 polymorphisms that are associated with asthma in a population of asthmatic children from Saudi Arabia. A cross-sectional pilot study comparing the polymorphisms of normal subjects and asthmatic patients from Saudi Arabia over a period of 1 year. One hundred and seven Saudi asthmatic children and 87 healthy Saudi children of 3-12 years old were assessed for allelic association of ADAM33 T1 [rs2280091], T2 [rs2280090], ST+4 [rs44707] and S1 [rs3918396] SNPs to asthma. Genotyping was done by real-time PCR, multiplex ARMS and PCR-RFLP. T1 and T2 SNP genotype frequencies in asthmatic children were significantly different compared to controls [P<.05], indicating allelic association with asthma. The T1 A/G and G/G and the T2 A/G and A/A genotypes [P=0.0013 and P=.008, respectively] but not S1 and ST+4, increased the risk of asthma when using the best fit dominant model. Strong linkage disequilibrium between T1 [rs2280091] and T2 [rs2280090] was observed [r2=0.83; D'=0.95; P<.001]. The haplotype G-A-A-C was significantly more frequent in asthmatics, thus supporting the association of T1 G-allele and T2 A-allele with increased predisposition to asthma [P=.007]. T1 A/G and T2 G/A ADAM33 polymorphisms, but not S1 or ST+4, were significantly associated with asthma development in Saudi children, like those reported for white and Hispanic population in the United States

Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients

Purine nucleoside phosphorylase [PNP] deficiency is a rare autosomal recessive metabolic disorder that results in combined immunodeficiency, neurologic dysfunction and autoimmunity. PNP deficiency has never been reported from Saudi Arabia or in patients with an Arabic ethnic background. We report on two Saudi girls with PNP deficiency. Both showed severe lymphopenia and neurological involvement. Sequencing of the PNP gene of one girl revealed a novel missense mutation Pro146>Leu in exon 4 due to a change in the codon from CCT>CTT. Expression of PNP [146L] cDNA in E coli indicated that the mutation greatly reduced, but did not completely eliminate PNP activity

Students' perception of the pediatrics course in a Saudi Medical School

In the beginning of 2006 there were major changes to the structure of the pediatrics course that coincided with a sharp increase in the students' number. We aimed to get the students and teachers evaluation of the different activities of the pediatrics course. Students were asked, at the end of each cycle in 4 consecutive cycles from January 2006 to March 2007, to evaluate various course activities based on what they thought was more useful or effective through filling out a short questionnaire. Teachers filled out a similar questionnaire based on what they thought were more useful to the students. In 4 consecutive courses 247 [65%] students filled the questionnaire. Overall, the students favored tutorial and small group case discussion sessions over lectures [P<0.0001]. They also preferred emergency room and ward activities over nursery [P=0.02]. Teachers felt that tutorial and small group case discussion sessions were more useful to the students than lectures, though the results were statistically insignificant. Case based activities [discussion sessions and tutorials] and activities providing more patient care responsibility were favored by students at the College of Medicine, King Saud University Riyadh