RESULTS: Twenty-two patients (from 16 unrelated families) were molecularly diagnosed as XLA. Genetic testing revealed fifteen distinct mutations, including four splicing mutations, four missense mutations, three nonsense mutations, three short deletions, and one large indel mutation. These mutations scattered throughout the BTK gene and mostly affected the kinase domain. All mutations including five novel mutations were predicted to be pathogenic or deleterious by in silico prediction tools. Genetic testing confirmed that eleven mothers and seven sisters were carriers for the disease, while three mutations were de novo. Flow cytometric analysis showed that thirteen patients had minimal BTK expression (0-15%) while eight patients had reduced BTK expression (16-64%). One patient was not tested for monocyte BTK expression due to insufficient sample. Pneumonia (n=13) was the most common manifestation, while Pseudomonas aeruginosa was the most frequently isolated pathogen from the patients (n=4). Mild or asymptomatic COVID-19 was reported in four patients.
CONCLUSION: This report provides the first overview of demographic, clinical, immunological and genetic data of XLA in Malaysia. The combination of flow cytometric assessment and BTK genetic analysis provides a definitive diagnosis for XLA patients, especially with atypical clinical presentation. In addition, it may also allow carrier detection and assist in genetic counselling and prenatal diagnosis.
METHODS: We share our experience in a developing country on an innovative reject-water reuse program combining aquaculture, hydroponic and horticulture activities. This is by far the first report on a "green dialysis" project involving aquaponics that reuse dialysis reverse osmosis (RO) reject water.
RESULTS: Our expereince suggests that reject water can be reused to promote water conservation with encouraging results. It provides a good and biosecure environment for fish breeding and vegetable farming . This project promotes a reduction in carbon footprint, a reduction in water waste, a sustainable organic food source, may lead to income generation, and provides a shared purpose and sense of pride among staff and dialysis patients.
CONCLUSIONS: Encompassing "environmental protection" practices into a hemodialysis unit can be done with relatively simple and practical steps.
DESIGN AND METHODS: One hundred fifty-five adult ASD caregivers completed the Malay version of Brief COPE, the Patient Health Questionnaire-9, and the Balanced Index of PM.
FINDINGS: Direct paths between dysfunctional coping style and depressive symptoms, between insight and depressive symptoms, and between dysfunctional coping style and all PM variables (insight and interest) were obtained. Multiple regression analyses revealed that insight, but not interest, significantly mediates the relationship between dysfunctional coping and depressive symptoms.
PRACTICAL IMPLICATIONS: PM can be enhanced via psychological interventions.
Methods: Lymphocyte subset enumeration test and whole exome sequencing were performed.
Results: We identified a compound heterozygous CR2 mutation (c.1916G>A and c.2012G>A) in both patients. These variants were then confirmed using Sanger sequencing.
Conclusion: Whole exome sequencing analysis of the monozygotic twins revealed compound heterozygous missense mutations in CR2.