METHODS: Initially, IR and NMR spectroscopic methods were used. Standard procedures were followed. For the computations, a hybrid DFT method with empirical dispersion, ωB97X-D, was used. The basis set, 6-311++G**, is of triple-ζ quality, in which polarization functions and diffuse functions were added for all atoms.
METHODS: We identified 105 affected individuals, including 39 previously reported cases, and systematically analyzed detailed clinical and genetic data for all individuals. Additionally, we conducted knockdown experiments in neuronal cells to investigate the role of ACTL6B in ribosome biogenesis.
RESULTS: Biallelic variants in ACTL6B are associated with severe-to-profound global developmental delay/intellectual disability, infantile intractable seizures, absent speech, autistic features, dystonia, and increased lethality. De novo monoallelic variants result in moderate-to-severe global developmental delay/intellectual disability, absent speech, and autistic features, whereas seizures and dystonia were less frequently observed. Dysmorphic facial features and brain abnormalities, including hypoplastic corpus callosum, and parenchymal volume loss/atrophy, are common findings in both groups. We reveal that in the nucleolus, ACTL6B plays a crucial role in ribosome biogenesis, particularly in pre-rRNA processing.
CONCLUSION: This study provides a comprehensive characterization of the clinical spectrum of both autosomal recessive and dominant forms of ACTL6B-associated disorders. It offers a comparative analysis of their respective phenotypes provides a plausible molecular explanation and suggests their inclusion within the expanding category of "ribosomopathies."
METHODS: A cross-sectional study design with quota sampling was used. A total of 203 respondents aged 18 years and above from a research centre in the Ministry of Health, Malaysia, were recruited. Venous blood was sent to the laboratory and tested with Siemens Atellica CH, while a POCT analyser was used for capillary blood measurements. Intraclass coefficient correlation (ICC) analysis was employed to determine the agreement between capillary and venous blood parameters. The diagnostic performance of the evaluated tests was evaluated using STATA version 12.
RESULTS: The agreement between capillary and laboratory venous blood was moderate (0.64-0.67) for TC and HDL, good (0.75) for LDL and excellent (0.91) for TG). The sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were as follows: TC, 57.1%, 94.3%, 92.3% and 64.8%; TG, 76.0%, 100%, 100%, and 96.6%; HDL, 96.2%, 83.2%, 47.2% and 99.3%; and LDL, 81.0%, 100%, 100% and 68.3%, respectively.
CONCLUSIONS: The CardioChek® PA analyser showed acceptable diagnostic accuracy for screening high-risk individuals more often in places where laboratories are inaccessible. It could also be used in clinical settings where patients would benefit from swift treatment decisions.
METHODS: A cross-sectional, questionnaire survey was conducted on adults older than 18 years who utilized public pharmacy services. A self-developed, validated questionnaire consisting of three parts was used, i.e., demographic data, perception, and satisfaction. The questionnaire was tested in a pilot study of 50 study participants and demonstrated good reliability results of 0.900 for the perception section and 0.836 for the satisfaction section. Therefore, all items were used in the final questionnaire.
KEY FINDINGS: Four hundred and seventy-nine completed questionnaires were collected with a response rate of 91.6%. The Cronbach's α for perception and satisfaction scores were 0.938 and 0.841, respectively. The median total score for public perception was 83 (interquartile range [IQR]: 15), whereas the median total score for public satisfaction was 38 (IQR: 33). The level of public perception was significantly associated with the age groups (P = .009), ethnic groups (P < .001), respondents' locality groups (P < .001), the level of education achieved group (P = .017), and the income groups (P = .006). Satisfaction was not significantly associated with any sociodemographic factors.
CONCLUSIONS: This study has found that the general public had a favorable perception of the role of hospital pharmacists, and they were generally satisfied with the pharmacy service provided.
METHODS: The effects of HHT on NSCLC growth were determined by cell viability assay, colony formation, flow cytometry, and H460 xenograft models. Western blotting, molecular docking program, site-directed mutagenesis assay, immunohistochemical assay, and immunofluorescence assay were performed to explore the underlying mechanisms of HHT-induced growth inhibition in NSCLC.
KEY FINDINGS: HIF-1α/ERβ signaling-related E2F1 is highly expressed and contributes to unfavorable survival and tumor growth. The findings in hypoxic cells, HIF-1α overexpressing cells, as well as ERβ- or E2F1-overexpressed and knockdown cells suggest that the HIF-1α/ERβ/E2F1 feedforward loop promotes NSCLC cell growth. HHT suppresses HIF-1α/ERβ/E2F1 signaling via the ubiquitin-proteasome pathway, which is dependent on the inhibition of the protein expression of HIF-1α and ERβ. Molecular docking and site-directed mutagenesis revealed that HHT binds to the GLU305 site of ERβ. HHT inhibits cell proliferation and colony formation and promotes apoptosis in both NSCLC cells and xenograft models.
CONCLUSION: The formation of the HIF-1α/ERβ/E2F1 feedforward loop promotes NSCLC growth and reveals a novel molecular mechanism by which HHT induces cell death in NSCLC.
OBJECTIVE: The aim of this study was to review and appraise the evidence for the effectiveness of different types of nurse-led interventions on fatigue in patients with cancer and survivors.
METHODS: Electronic databases such as PubMed, Scopus, Cochrane Library, Web of Science, and ScienceDirect were searched to identify studies published from January 2013 to October 2023. The studies that described nurse-led interventions in patients with cancer or survivors regardless of treatment duration, modes of intervention delivery, and any based intervention were included. The studies were excluded if no fatigue was an outcome measure.
RESULTS: Twelve studies from 2013 to 2023 were included and eligible for the review. Nine studies obtained a Jadad score of 3 or more, indicating high quality for the quality assessment. Eleven of the included studies reported a significant effect of the nurse-led interventions in reducing fatigue in patients with cancer or survivors.
CONCLUSIONS: Nurse-led interventions that focus on multidisciplinary, exercise, psychological, and behavioral approaches appear promising in the management of CRF. More research is needed in order to determine the most acceptable forms of intervention.
IMPLICATIONS FOR PRACTICE: The development of evidence-based interventions for managing CRF is significant to nursing practice.