Int J Med Sci
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Background: Silver-Russell syndrome (SRS; OMIM #180860) is a clinically and genetically heterogeneous imprinting disorder characterized by prenatal and postnatal growth failure. The aim of this study was to identify the epigenotype-phenotype correlations in these patients using quantitative DNA methylation analysis. Methods: One hundred and eighty-three subjects clinically suspected of having SRS were referred for diagnostic testing by the methylation profiling of H19-associated imprinting center (IC) 1 and imprinted PEG1/MEST regions using methylation-specific high-resolution melting analysis and methylation quantification with the MassARRAY assay. ⋯ Among the 90 subjects with an N-H score ≥ 4, the IC1 methylation level was significantly different between those with or without some clinical SRS features, including birth length ≤ 10th centile, relative macrocephaly at birth, normal cognitive development, body asymmetry, clinodactyly of the fifth finger, and genital abnormalities. Conclusions: This study confirmed the suitability of the N-H clinical scoring system as clinical diagnostic criteria for SRS. Quantitative DNA methylation analysis using the MassARRAY assay can improve the detection of epigenotype-phenotype correlations, further promoting better genetic counseling and multidisciplinary management for these patients.
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Objective: Evaluate the prognostic value of the prognostic nutritional index (PNI) in patients with endometrial cancer (EC). Method: Laboratory and clinicopathological data from 370 patients who were diagnosed with EC between January 2010 and December 2021 were reviewed. The PNI was analyzed for correlations with recurrence and survival. ⋯ Conclusion: Low PNI was significantly associated with worse clinical outcomes in patients with EC. Our findings demonstrate that the PNI may be clinically reliable and useful as a prognostic marker for patients with EC. Further large-scale prospective studies are needed to confirm our findings.
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Comparative Study
Comparison of myopic control between orthokeratology contact lenses and defocus incorporated multiple segments spectacle lenses.
Purpose: The purpose of this study was to compare the differences in myopic control effects between orthokeratology (OK) contact lenses and defocus incorporated multiple segments (DIMS) spectacle lenses. Methods: A retrospective cohort study was conducted that included patients who had received OK lens, DIMS spectacle lens or single-vision spectacle treatments. A total of 54 eyes from 27 individuals, 38 eyes from 19 individuals and 42 eyes from 21 individuals were enrolled into the OK lens, DIMS and control groups, respectively. ⋯ The AXL elongation results between the OK lens and DIMS populations did not illustrate a significant difference (P = 0.607). In a subgroup analysis of moderate astigmatism, better AXL control was observed in the DIMS subgroup compared with the OK lens subgroup (P = 0.016). Conclusions: The OK lens demonstrated a clinically non-significant effect on the SER and AXL controls compared with the DIMS spectacle lens.
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Background: Ischemic stroke is a common cerebrovascular accident with a high risk of neurological deficits. Stem cell therapy has progressively attracted the interest of scientists and clinicians due to the benefits of promoting neural regeneration and regulating the microenvironment surrounding the lesion after ischemic stroke. Our study aimed to evaluate the development trends and research hotspots in the field of stem cells and ischemic stroke. ⋯ The topics related to miRNA, extracellular vesicles, exosomes, mesenchymal stem cells, neuroinflammation, and autophagy are current research hotspots. Conclusion: Our bibliometric study provides a novel perspective on the research trends in the field of stem cells and ischemic stroke. The outcome of this study may benefit scientists to identify research hotspots and development directions, thereby advancing the application of stem cell-based therapy for ischemic stroke.
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Observational Study
Impacts of Climate Warming on the Body Composition of Patients Undergoing Maintenance Hemodialysis.
Background: Climate change, with increasing temperatures, poses a health threat to patients on maintenance hemodialysis (MHD). Seasonal variations in body composition have been documented in this population. We hypothesized that climate warming could further exacerbate these effects. ⋯ Conclusions: Our findings demonstrate that climate warming is associated with variations in the body composition of MHD patients residing in a subtropical climate. These changes can have implications in MHD patients due to their heightened vulnerability to environmental changes. Further research is needed across diverse geographic regions to develop optimal care strategies in a warming world.