Introduction: Exome sequencing technology which is part of Next Generation Sequencing (NGS) is known for detection of various disease mutations through commercially available platforms. Less reports in identifying genetic variation in non-syndromic cleft lip with or without cleft palate (NSCL/P) in Malaysia had embarked for discovery of susceptible genes to fill in the gaps with the healthcare delivery for a better treatment and management to the patients and family. Methods: Whole exome sequencing was carried out on two Malay NSCLP patients. Blood samples were withdrawn and intact DNA was extracted, fragmented, purified and hybridized using exome sequencing capture and sequenced with Agilent 2100 Bioanalyzer platform. Bioinformatic analyses were done and reviewed with GenBank and PubMed database. Variants were filtered based upon a high impact variant. Results: We have identified single nucleotide polymorphisms in 2 genes (PDE4DIP and PDE11A) and InDels frameshift mutations in 4 genes (PDE4DIP, LTBP4, MMP12 and MMP28). Our preliminary study presents the successful application of whole exome sequencing to elucidate the genetic basis of NSCLP in Malays. Conclusion: Mutations that have been identified would shed more light on the susceptible genes to non-syndromic clefts and further investigation shall be carried out to confirm.
Introduction: The Environment of Care (EoC) is less being the highlight as one of the important components in hospi-tal administration. The EoC is the interface between the patient and the organisation and it provides both a practical and safe area in which to provide patient care. The study aims to determine the correlation between the environment of care, patient satisfaction and willingness to recommend. Methods: This was a cross-sectional study conducted in one of the teaching hospitals in Malaysia. A Malay validated Hospital Consumer Assessment of Healthcare Provider and System (HCAHPS) questionnaire was used. The multistage sampling was applied. 13 wards represent medical, surgical and O&G based wards were selected randomly. Systematic random sampling method was used for pa-tient selection. Number of samples for each ward was calculated proportionately based on the average number of discharge patient monthly. The global rating item in HCAHPS was used to determine satisfaction level. Data was collected and analysed using SPSS version 22.0. Results: 547 respondents were involved in the study with 61.6% of them were female. Majority of respondents were young adult less than 60 years old. 36.9% of the respondents had positive experience with cleanliness of the ward meanwhile 26.7% had positive experience with quietness of the ward. 57.6% of the respondents were satisfied with the services and 64.5% were willing to recommend the hos-pital to others. There was a significant correlation between environment of care, satisfaction level and willingness to recommend. Conclusion: The healthcare facility needs to concentrate on creating a positive experience on EoC component as this can influence satisfaction level and willingness to recommend the hospital.