RO and ChRCC are kidney tumours with overlapping characteristics, making differentiation between them challenging. The objective of this research is to create a radiogenomics map by correlating radiomic features to molecular phenotypes in ChRCC and RO, using resection as the gold standard. Fourteen patients (6 RO and 8 ChRCC) were included in the prospective study. A total of 1,875 radiomic features were extracted from CT scans, alongside 632 cytobands containing 16,303 genes from the genomic data. Feature selection algorithms applied to the radiomic features resulted in 13 key features. From the genomic data, 24 cytobands highly correlated with histology were selected and cross-correlated with the radiomic features. The analysis identified four radiomic features that were strongly associated with seven genomic features. These findings demonstrate the potential of integrating radiomic and genomic data to enhance the differential diagnosis of RO and ChRCC, paving the way for more precise and non-invasive diagnostic tools in clinical practice.
Orang Asli are the indigenous minority peoples of peninsular Malaysia. Despite proactive socioeconomic development initiated by the Malaysian Government in upgrading the quality of life of the Orang Asli communities since 1978, they still remained poor with a current poverty rate of 76.9%. Poverty exacerbates the health problems faced by these communities which include malnourishment, high incidences of infectious diseases (eg. tuberculosis, leprosy, malaria) and the perpetual problem with intestinal parasitic infections. Studies reported that the mean infection rate of intestinal parasitic infections in Orang Asli communities has reduced from 91.1% in 1978, to 64.1% in the subsequent years. Although the results was encouraging, it has to be interpreted with caution because nearly 80% of studies carried out after 1978 still reported high prevalence (i.e. >50%) of soil-transmitted helminthiases (STH) among Orang Asli communities. Prior to 1978, hookworm infection is the most predominant STH but today, trichuriasis is the most common STH infections. The risk factors for intestinal parasitic infections remained unchanged and studies conducted in recent years suggested that severe STH infections contributed to malnutrition, iron deficiency anaemia and low serum retinol in Orang Asli communities. In addition, STH may also contribute to poor cognitive functions and learning ability. Improvements in socioeconomic status in Malaysia have shown positive impact on the reduction of intestinal parasitic infections in other communities however, this positive impact is less significant in the Orang Asli communities. In view of this, a national parasitic infections baseline data on morbidity and mortality in the 18 subgroups of Orang Asli, will assist in identifying intervention programmes required by these communities. It is hope that the adoption of strategies highlighted in the World Health Organisation- Healthy Village Initiatives (WHO-HVI) into Orang Asli communities will ensure the whole mechanism of delivery and empowerment by the government agencies become more efficient and productive in alleviating intestinal parasitic infections in these communities.
Dilated cardiomyopathy (DCM) is a leading cause of heart failure and cardiac transplantation. We report a genome-wide association study and multi-trait analysis of DCM (14,256 cases) and three left ventricular traits (36,203 UK Biobank participants). We identified 80 genomic risk loci and prioritized 62 putative effector genes, including several with rare variant DCM associations (MAP3K7, NEDD4L and SSPN). Using single-nucleus transcriptomics, we identify cellular states, biological pathways, and intracellular communications that drive pathogenesis. We demonstrate that polygenic scores predict DCM in the general population and modify penetrance in carriers of rare DCM variants. Our findings may inform the design of genetic testing strategies that incorporate polygenic background. They also provide insights into the molecular etiology of DCM that may facilitate the development of targeted therapeutics.