Helical and kinase domain mutations of PIK3CA, and their association with hormone receptor expression in breast cancer.

Breast cancer is one of the major causes of female morbidity and mortality, accounting for ~25% of the total cancer cases in women. Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic α subunit (PIK3CA) mutations serve a major role in downstream signaling of receptor tyrosine kinases. The present study aimed to elucidate the frequency of exon 9 and 20 mutations of PIK3CA and their role in disease progression. A total of 118 tumor samples from confirmed breast cancer patients were collected from the histopathology laboratory at King Fahd Hospital of the University (Al-Khobar, Saudi Arabia). Sanger sequencing was performed on extracted DNA to identify the mutations on exons 9 and 20 of PIK3CA. The results were further validated by competitive allele-specific TaqMan polymerase chain reaction. Three mutations, namely E542K and E545K within exon 9, and H1047R within exon 20, were observed in 25 patients (21.2%). Among these, 18 patients carried the H1047R mutation of the kinase domain, while the remaining 7 patients carried mutations in the helical domain. PIK3CA mutations were associated with the estrogen receptor-positive/progesterone receptor-positive (ER+/PR+) group of tumors in contrast to the ER-/PR- group (P=0.021). Furthermore, it was observed that the PIK3CA mutation was associated with a poor disease prognosis. Taken together, the current study emphasized the potential of PIK3CA mutations as an important biomarker for breast cancer classification and the possible use of PIK3CA inhibitor as targeted therapy for breast cancer.

Bacterial flora on cell phones of health care providers in a teaching institution.

We conducted a cross-sectional study involving culture of cell phones of 288 health care providers (HCP) during a 6-month period. One hundred nine (43.6%) HCP carried infective organisms on their cell phones. It is recommended that cell phones be cleaned regularly.

Osteoarticular tuberculosis: how often is it missed?

This study was carried out to analyze the clinical presentations and outcomes of osteoarticular tuberculosis (OAT) at a university hospital in AlKhobar, Saudi Arabia. A prospective observational study was carried out between 1 January 1998 and 31 December 2007. Patients demographic characteristics were recorded, including age, gender, nationality, clinical manifestation, delay in diagnosis, laboratory results, findings on imaging studies, histological and bacteriological studies of biopsy specimens, treatment modalities, surgical interventions and final outcomes. Fifty-two patients were diagnosed with OAT during the study period. The majority were males (64%), about half were below age 30 years. The mean age at diagnosis was 33 years. There were 32 Saudis (64%), and 18 non-Saudis (36%). Pyrexia, loss of appetite and night sweats were the presenting symptoms in 44, 38 and 36%, respectively. The average time from onset of symptoms to diagnosis was 185 days (7-730 days). On admission, the average erythrocyte sedimentation rate (ESR) was 68 mm/h (4-142). A Mantoux test was performed, in 48 patients the results were positive. The vertebral column was the site of infection in 88% of patients. All patients were managed with standard antituberculous therapy. Forty-two patients (84%) had a favorable outcome.

Polymorphism in methylenetetrahydrofolate reductase, plasminogen activator inhibitor-1, and apolipoprotein E in hemodialysis patients.

The methylenetetrahydrofolate reductase (MTHFR) gene polymorphism, apolipoprotein E (apo epsilon4) gene polymorphism and polymorphism of plasminogen activator inhibitor-1 (PAI-1) have been shown to be associated with end-stage renal disease (ESRD). To determine the prevalence of these mutations in Saudi patients with ESRD on hemodialysis, we studied the allelic frequency and genotype distribution in patients receiving hemodialysis and in a control group, all residing in the Eastern Province of Saudi Arabia. The genotypes were determined using allele specific hybridization procedures and were confirmed by restriction fragment length polymorphism. The T allele frequency and homozygous genotype of MTHFR in ESRD patients were 14% and 2.4%, respectively compared to 13.4% and 0%, respectively in the control group. The allele frequency and homozygous genotype of 4G/4G PAI-1 gene polymorphism were 46.4% and 4.8% respectively in ESRD patients compared to 57.1% and 32% respectively in the control group. The apo s4 allele frequency and homozygous genotype distribution in hemodialysis patients were 7% and 2.4%, respectively compared to 13% and 2% in the control group. Although allele frequency of C677T of MTHFR was statistically similar in the hemodialysis patients and in the control group, the homozygotes T allele genotype was over represented in the hemodialysis group compared to normal. The prevalence of PAI-1 4G/4G polymorphism in ESRD patients was lower when compared to the control group. The prevalence of apo s4 allele did not differ significantly between the two groups. The present results demonstrate that all three studied polymorphic mutations are present in our population and that they may contribute to the etiology of the disease in our area.