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.