SOURCE OF FUNDING: The study was funded by International Islamic University Malaysia (P-RIGS18-036-0036).
TYPE OF STUDY/DESIGN: Systematic review with meta-analysis.
METHODS: Whole exome sequencing (WES) was performed on all patients and their parents, followed by Sanger sequencing validation. Bioinformatics tools were used to provide supporting evidence for pathogenicity of variants. To confirm that a mutation is de novo, paternity test was carried out. High resolution melting curve analysis was performed to assess the allele frequency in normal controls for mutations that were found in the patients.
RESULTS: The patients showed typical characteristics of HR including lower limb deformity, hypophosphatemia, and elevated alkaline phosphatase. WES revealed two variants in the PHEX gene and one variant in the dentin matrix protein 1 (DMP1) gene. Two of the three variants were novel, including c.1946_1954del (p.Gly649_Arg651del) in PHEX and c.54 + 1G > A in DMP1. Our data suggests that the novel p.Gly649_Arg651del variant is likely pathogenic for HR disease.
CONCLUSIONS: This study extends the variant spectrum of the PHEX and DMP1 genes. Our findings indicate that WES is an advantageous approach for diagnosis of genetic diseases which are heterogeneous.
OBJECTIVES: To explore factors affecting adherence to behaviours appropriate for the prevention of pressure injuries (PIs) in people with spinal cord injury (SCI) in Malaysia.
SETTING: University Hospital, Malaysia METHODS: Four sets of focus group interviews were conducted, each with 5-10 participants, totalling 30 people with SCI. A trained interviewer used structured interviews designed to explore participants' experiences of complying with recommended behaviours for the prevention of PIs. All interviews were digitally recorded, transcribed, and analysed utilising thematic analysis.
RESULTS: The factors that affected participants' adherence are classified into four main themes: (a) educational aspects, (b) internal drive, (c) social and environmental factors, and (d) post-SCI physiological changes.
CONCLUSIONS: This qualitative study provides initial exploratory evidence regarding the thoughts, experience, and opinions pertaining to PI preventive behaviours within the Malaysian SCI population. The emerging themes contribute to an in-depth understanding of the competency of the Malaysian healthcare system in PI prevention, personal and societal factors influenced by the socio-demographic backgrounds, and disease-related factors that influence the adherence to such preventive interventions.
MATERIALS AND METHODS: Relevant, peer-reviewed, Englishlanguage articles on healthcare service quality in Malaysia were independently searched by the authors using the SCOPUS and EMERALD databases. Articles that do not directly address healthcare service quality within the Malaysian setting were excluded. Additional articles were identified from the reference lists of the selected articles and from Google search engine. A total of 43 out of 2,749 articles were selected.
RESULTS: Most of these studies (28 out of the 43 articles, 65.1%) in this scoping review used either the original or a modified version of SERVQUAL instrument to measure healthcare service quality. Significant positive relationships between tangibles, assurance and empathy with patient satisfaction were identified. As SERVQUAL primarily measures the functional dimension of service quality, this suggests that past studies on Malaysian healthcare services emphasised heavily on the functional dimension of healthcare service quality. Functional dimension refers to the expressive performance on how the healthcare service is rendered whereas technical dimension refers to the types of services rendered as well as its safety and efficacy.
CONCLUSION: A pertinent research gap identified in this review is the lack of studies that measure both technical and functional dimensions comprehensively. Future research should adopt a more holistic (incorporating both technical dimension and functional dimension) measurement of healthcare service quality.