AIM: This study aims to investigate the genetic polymorphisms of CYP3A5 among the Orang Asli in Peninsular Malaysia using a next generation sequencing platform.
METHODS: Genomic DNAs were extracted from blood samples of the three main Orang Asli tribes and whole-genome sequencing was performed.
RESULTS: A total of 61 single nucleotide polymorphisms were identified and all the SNPs were located in introns except rs15524, which is in the 3'UTR, and 11 of these polymorphisms were novel. Two allelic variants and three genotypes were identified in the Orang Asli. The major allelic variant was the non-functional CYP3A5*3 (66.4%). The percentages of Orang Asli with CYP3A5*3/*3 (47.2%) and CYP3A5*1/*3 (38.1%) genotypes are more than twice the percentage of Orang Asli with CYP3A5*1/*1 (14.8%) genotype. Almost half of the Orang Asli harboured CYP3A5 non-expressor genotype (CYP3A5*3/*3).
CONCLUSIONS: The predominance of the CYP3A5 non-expressor genotype among the Orang Asli was unravelled and the findings in this study may serve as a guide for the optimisation of pharmacotherapy for the Orang Asli community.
METHODS: Genomic DNAs were extracted from the blood samples followed by whole-genome sequencing. The reads were aligned to the reference human genome hg19 and variants in the CYP2D6 gene were analyzed. CYP2D6*5 and duplication of CYP2D6 were analyzed using previously established methods.
RESULTS: A total of 72 single nucleotide polymorphisms were identified. CYP2D6*1, *2, *4, *5, *10,*41, and duplication of the gene were found in the Orang Asli, whereby CYP2D6*2 and *41 alleles are reported for the first time in the Malaysian population.
CONCLUSION: The findings in this study provide insights into the genetic polymorphisms of CYP2D6 in the Orang Asli of Peninsular Malaysia.
METHODS: This retrospective cohort study was carried out at the Jordan University Hospital (JUH), a tertiary facility located in Amman, Jordan. Non-cystic Fibrosis Bronchiectasis (NCFB) was defined as an HRCT scan typical for bronchiectasis along with a negative sweat chloride test to rule out cystic fibrosis. Patients' data were collected by the use of Electronic Medical Records (EMR) at our institution. Frequent exacerbation was defined as more than 2 exacerbations in 1 year of the onset of the diagnosis.
RESULTS: A total of 79 patients were included, and 54.4% of them were female. The mean and standard deviation of the patient's age was 48.61 ± 19.62. The etiologies of bronchiectasis were evident in 79.7% of the sample. Asthma, Chronic Obstructive Pulmonary Diseases (COPD), and Kartagener syndrome were the most prevalent etiologies, accounting for related illnesses in 21.8%, 21.5%, and 13.9% of the patients, respectively. The most frequent bacteria cultured in our cohort were Pseudomonas and Candida Species. Moreover, 43 patients of the study cohort were frequent exacerbators, and 5 patients died.
CONCLUSION: Our study supports the need to identify several bronchiectasis phenotypes linked to various causes. These findings provide information to clinicians for the early detection and treatment of bronchiectasis in Jordan.
MATERIALS AND METHODS: Ballast water was sampled from nine ships docked at Port Klang, Malaysia. The isolates were identified and characterized based on biochemical and enzymatic properties, 16S rRNA and gyrB sequencing, biofilm formation capability, and antibiotic susceptibility.
RESULTS: A total of four S. algae isolates were isolated from four ballast water samples tentatively name Sa-BW1, Sa-BW2, Sa-BW7, and Sa-BW8. All isolates showed positive reaction for cytochrome oxidase, catalase, high tolerance to NaCl (6% and 8%), ability to grow at 42°C, and on Salmonella-Shigella agar. The strains also exhibited b-hemolytic activity on sheep blood and human blood agar, positive reaction for lipase, protease, DNase and gelatinase, strong biofilm adherence capabilities and multiple antibiotic resistances against ampicillin, carbenicillin, cephalothin, colistin, novobiocin, oxacillin, penicillin, rifampicin, and tobramycin which suggested their potential pathogenicity.
CONCLUSION: This study demonstrated the occurrence of putative pathogen S. algae in ballast water of ships docked at Malaysian port.