RESULTS: To our knowledge, this is the first report on the CCL3L1 copy number that has been attempted among Malaysians and the Chinese ethnic group exhibits a diverse pattern of CCL3L1 distribution copy number from the Malay and Indian (p
METHODS: A total of 3,779 documents were retrieved from the Scopus database for the bibliometric analysis and network visualization. By comparing each keyword's overall connection strength (centrality), frequency (density), and average year of publication (novelty) to the calculated median values acquired from the overlay view of the VOSviewer map, the enhanced strategic diagrams (ESDs) were constructed.
RESULTS: The findings showed an increasing trend in the number of publications. The United States leads the contributing countries in cognitive aging research. The scientific productivity pattern obeyed Lotka's law. The most productive researcher was Deary, I. J., with the highest number of publications. The collaborative index showed an increasing trend from 1980 onwards. Frontiers in Aging Neuroscience is the most prestigious journal in the field of cognitive aging research. In Bradford core journals zone 1, the top 10 core journals of cognitive aging research provided more than half of the total articles (697, or 55.36 percent).
CONCLUSIONS: For the next decades, the trending topics in cognitive aging research include neuropsychological assessment, functional connectivity, human immunodeficiency virus (HIV), decision-making, gender, compensation, default mode network, learning and memory, brain-derived neurotrophic factor (BDNF), obesity, D-galactose, epigenetics, frailty, mortality, mini-mental state examination (MMSE), anxiety, and gait speed.
AIMS: The aim of this study was to analyze the mutations in genes involved in CRC including MLH1, MSH2, KRAS, and APC genes.
METHODS: A total of 76 patients were recruited. We used the polymerase chain reaction-denaturing high-performance liquid chromatography for the detection of mutations in the mismatch repair (MMR) and APC genes and the PCR single-strand conformation polymorphism for screening of the KRAS gene mutations.
RESULTS: We identified 17 types of missense mutations in 38 out of 76 patients in our patients. Nine mutations were identified in the APC gene, five mutations were detected in the KRAS gene, and two mutations were identified in the MSH2 gene. Only one mutation was identified in MLH1. Out of these 17 mutations, eight mutations (47 %) were predicted to be pathogenic. Seven patients were identified with multiple mutations (3: MSH2 and KRAS, 1: KRAS and APC, 1: MLH1 and APC, 2: APC and APC).
CONCLUSIONS: We have established the PCR-DHPLC and PCR-SSCP for screening of mutations in CRC patients. This study has given a snapshot of the spectrum of mutations in the four genes that were analyzed. Mutation screening in patients and their family members will help in the early detection of CRC and hence will reduce mortality due to CRC.
Materials and methods: We analysed 100 unrelated HA and 15 unrelated HB patients for genetic alterations in the F8 and F9 genes by using the long-range PCR, DNA sequencing, and the multiplex-ligation-dependent probe amplification assays. The prediction software was used to confirm the effects of these mutations on factor VIII and IX proteins.
Results: 44 (53%) of the severe HA patients were positive for F8 intron 22 inversion, and three (3.6%) were positive for intron one inversion. There were 22 novel mutations in F8, including missense (8), frameshift (9), splice site (3), large deletion (1) and nonsense (1) mutations. In HB patients, four novel mutations were identified including the splice site (1), small deletion (1), large deletion (1) and missense (1) mutation.
Discussion: The mutational spectrum of F8 in Malaysian patients is heterogeneous, with a slightly higher frequency of intron 22 inversion in these severe HA patients when compared to other Asian populations. Identification of these mutational profiles in F8 and F9 genes among Malaysian patients will provide a useful reference for the early detection and diagnosis of HA and HB in the Malaysian population.