Objective:To analyze the correlation between variants in the start codon of the α-globin gene and phenotypes of thalassemia, so as to provide a basis for the diagnosis and prevention of α-thalassemia.Methods:A retrospective study was conducted on 7 patients diagnosed by Yangjiang People′s Hospital and Guangzhou Hybribio Co. Ltd., from June 2019 to October 2022. Routine blood tests and hemoglobin electrophoresis were carried out. Potential variants were identified through polymerase chain reaction (PCR) combined with Reverse dot blotting (RDB), Gap-PCR, and Sanger sequencing. This study has been approved by the Medical Ethics Committee of People′s Hospital of Yangjiang (Ethics No: 20240001).Results:For the 7 patients, results of blood routine test of one case was unknown, and that of another was normal. The remaining 5 cases had presented with microcytic hypochromic anemia. The results of hemoglobin electrophoresis showed that one case had normal Hb A and slightly lower Hb A 2, whilst another had significantly decreased Hb A and Hb A 2, in addition with the appearance of a Hb H band. The content of Hb Bart′s in four neonates was ≥0.4%. The remaining one case had no result. Genetic testing has identified 4 rare start codon mutations, namely HBA2: c. 2delT, HBA2: c. 1A>G, HBA2: c. 1A>T, and HBA1: c. 2T>C. Among these, Patient 1 had harbored compound heterozygous variants of HBA2: c. 427T>C (Hb CS) and HBA2: c. 2delT. Patient 4 had harbored compound heterozygous variants of HBA2: c. 1A>G and Southeast Asian type deletion. Conclusion:Heterozygotes with HBA start codon variants usually present as silent or mild thalassemia, and the symptoms of anemia may deteriorate when combined with other α-thalassemia variant. The HBA2: c. 1A>T start codon variant was unreported previously in China. The detection of start codon variants has helped to clarify the causes of anemia, genetic counseling, and guidance for reproduction.

OBJECTIVE: To analyze the correlation between variants in the start codon of the α-globin gene and phenotypes of thalassemia, so as to provide a basis for the diagnosis and prevention of α-thalassemia. METHODS: A retrospective study was conducted on 7 patients diagnosed by Yangjiang People's Hospital and Guangzhou Hybribio Co. Ltd., from June 2019 to October 2022. Routine blood tests and hemoglobin electrophoresis were carried out. Potential variants were identified through polymerase chain reaction (PCR) combined with Reverse dot blotting (RDB), Gap-PCR, and Sanger sequencing. This study has been approved by the Medical Ethics Committee of People's Hospital of Yangjiang (Ethics No: 20240001). RESULTS: For the 7 patients, results of blood routine test of one case was unknown, and that of another was normal. The remaining 5 cases had presented with microcytic hypochromic anemia. The results of hemoglobin electrophoresis showed that one case had normal Hb A and slightly lower Hb A2, whilst another had significantly decreased Hb A and Hb A2, in addition with the appearance of a Hb H band. The content of Hb Bart's in four neonates was ≥ 0.4%. The remaining one case had no result. Genetic testing has identified 4 rare start codon mutations, namely HBA2: c.2delT, HBA2: c.1A>G, HBA2: c.1A>T, and HBA1: c.2T>C. Among these, Patient 1 had harbored compound heterozygous variants of HBA2: c.427T>C (Hb CS) and HBA2: c.2delT. Patient 4 had harbored compound heterozygous variants of HBA2: c.1A>G and Southeast Asian type deletion. CONCLUSION Heterozygotes with HBA start codon variants usually present as silent or mild thalassemia, and the symptoms of anemia may deteriorate when combined with other α-thalassemia variant. The HBA2: c.1A>T start codon variant was unreported previously in China. The detection of start codon variants has helped to clarify the causes of anemia, genetic counseling, and guidance for reproduction.
Humans ; Phenotype ; Codon, Initiator/genetics* ; Female ; Male ; Retrospective Studies ; alpha-Globins/genetics* ; alpha-Thalassemia/genetics* ; Hemoglobin A/genetics* ; Adult ; Mutation

Objective:This study used data-independent acquisition (DIA) proteomics to analyze plasma protein expression in sepsis-induced coagulopathy (SIC), identify key biomarkers, and develop a diagnostic model.Methods:This prospective study included 46 adult sepsis patients from the intensive care unit. Patients were categorized into a general sepsis group ( n=26) and an SIC group ( n=20) based on established SIC criteria. Plasma samples underwent proteomic and bioinformatics analyses to identify differentially expressed protein (DEP) using LASSO regression and Random Forest. A diagnostic model was constructed and assessed via receiver operating characteristic (ROC) curve analysis. Results:The baseline data revealed that SIC patients exhibited longer prothrombin times, lower platelet counts, and higher D-dimer, fibrin degradation products, blood lactate, SOFA scores, and APACHE Ⅱ scores compared with general sepsis patients ( P<0.05). DIA proteomics identified 2 637 proteins, with 240 DEP meeting the criteria (fold change >1.5, P<0.05), including 81 upregulated and 159 downregulated DEP. Subcellular localization analysis revealed that DEPs were predominantly extracellular and nuclear. Gene ontology (GO) annotation showed that DEP were mainly involved in cellular physiology, biological regulation, and stress response processes in biological processes. Domain annotation revealed a predominance of immunoglobulin V regions in DEP, which are crucial for antigen recognition and binding. KEGG enrichment analysis showed significant enrichment of DEP in pathways related to natural killer cell-mediated cytotoxicity, glycosylphosphatidylinositol anchor biosynthesis, tumor necrosis factor signaling, and NF-κB signaling. LASSO regression identified angiogenin and C-type lectin domain family 10 member A as key DEP. The SIC diagnostic nomogram showed an area under the curve of 0.896, with 0.731 specificity and 0.900 sensitivity. Conclusion:The nomogram incorporating angiogenin and C-type lectin domain family 10 member A provides an accurate tool for SIC diagnosis.

Objective:This study used data-independent acquisition (DIA) proteomics to analyze plasma protein expression in sepsis-induced coagulopathy (SIC), identify key biomarkers, and develop a diagnostic model.Methods:This prospective study included 46 adult sepsis patients from the intensive care unit. Patients were categorized into a general sepsis group ( n=26) and an SIC group ( n=20) based on established SIC criteria. Plasma samples underwent proteomic and bioinformatics analyses to identify differentially expressed protein (DEP) using LASSO regression and Random Forest. A diagnostic model was constructed and assessed via receiver operating characteristic (ROC) curve analysis. Results:The baseline data revealed that SIC patients exhibited longer prothrombin times, lower platelet counts, and higher D-dimer, fibrin degradation products, blood lactate, SOFA scores, and APACHE Ⅱ scores compared with general sepsis patients ( P<0.05). DIA proteomics identified 2 637 proteins, with 240 DEP meeting the criteria (fold change >1.5, P<0.05), including 81 upregulated and 159 downregulated DEP. Subcellular localization analysis revealed that DEPs were predominantly extracellular and nuclear. Gene ontology (GO) annotation showed that DEP were mainly involved in cellular physiology, biological regulation, and stress response processes in biological processes. Domain annotation revealed a predominance of immunoglobulin V regions in DEP, which are crucial for antigen recognition and binding. KEGG enrichment analysis showed significant enrichment of DEP in pathways related to natural killer cell-mediated cytotoxicity, glycosylphosphatidylinositol anchor biosynthesis, tumor necrosis factor signaling, and NF-κB signaling. LASSO regression identified angiogenin and C-type lectin domain family 10 member A as key DEP. The SIC diagnostic nomogram showed an area under the curve of 0.896, with 0.731 specificity and 0.900 sensitivity. Conclusion:The nomogram incorporating angiogenin and C-type lectin domain family 10 member A provides an accurate tool for SIC diagnosis.

Objective:To analyze the correlation between variants in the start codon of the α-globin gene and phenotypes of thalassemia, so as to provide a basis for the diagnosis and prevention of α-thalassemia.Methods:A retrospective study was conducted on 7 patients diagnosed by Yangjiang People′s Hospital and Guangzhou Hybribio Co. Ltd., from June 2019 to October 2022. Routine blood tests and hemoglobin electrophoresis were carried out. Potential variants were identified through polymerase chain reaction (PCR) combined with Reverse dot blotting (RDB), Gap-PCR, and Sanger sequencing. This study has been approved by the Medical Ethics Committee of People′s Hospital of Yangjiang (Ethics No: 20240001).Results:For the 7 patients, results of blood routine test of one case was unknown, and that of another was normal. The remaining 5 cases had presented with microcytic hypochromic anemia. The results of hemoglobin electrophoresis showed that one case had normal Hb A and slightly lower Hb A 2, whilst another had significantly decreased Hb A and Hb A 2, in addition with the appearance of a Hb H band. The content of Hb Bart′s in four neonates was ≥0.4%. The remaining one case had no result. Genetic testing has identified 4 rare start codon mutations, namely HBA2: c. 2delT, HBA2: c. 1A>G, HBA2: c. 1A>T, and HBA1: c. 2T>C. Among these, Patient 1 had harbored compound heterozygous variants of HBA2: c. 427T>C (Hb CS) and HBA2: c. 2delT. Patient 4 had harbored compound heterozygous variants of HBA2: c. 1A>G and Southeast Asian type deletion. Conclusion:Heterozygotes with HBA start codon variants usually present as silent or mild thalassemia, and the symptoms of anemia may deteriorate when combined with other α-thalassemia variant. The HBA2: c. 1A>T start codon variant was unreported previously in China. The detection of start codon variants has helped to clarify the causes of anemia, genetic counseling, and guidance for reproduction.

Objective: To investigate the nutritional status and its influencing factors among primary and middle school students in Yunfu City, Guangdong Province, so as to provide the basis for improving nutrition and health strategies for students. Methods: Primary and middle school students from 26 schools in 5 counties (cities, districts) of Yunfu City were selected in 2022 through multi-stage stratified cluster random sampling method. Demographic information, dietary and exercise behaviors were collected using questionnaire surveys, and the prevalence of malnutrition were analyzed. Factors affecting malnutrition was evaluated using a multinomial logistic regression model. Results: A total of 7 213 students were surveyed, including 3 881 boys (53.81%) and 3 332 girls (46.19%), and had a median age of 13.50 (interquartile range, 4.00) years. There were 2 667 primary school students (36.97%), 2 662 middle school students (36.91%) and 1 884 high school students (26.12%). There were 1 938 students suffered from malnutrition, with a detection rate of 26.87%. The detection rates for undernutrition, overweight and obesity were 11.66%, 9.75% and 5.46%, respectively. Multinomial logistic regression analysis showed that gender (boy, OR=2.227, 95%CI: 1.905-2.603), studying phase (primary school, OR=1.528, 95%CI: 1.239-1.884), ≥60 min/d of moderate/high-intensity exercise (0-1 d/week, OR=1.422, 95%CI: 1.153-1.753; 2-4 d/week, OR=1.280, 95%CI: 1.047-1.564) and frequency of having physical education (1-2 classes/week, OR=1.732, 95%CI: 1.084-2.767; 3-4 classes/week, OR=1.662, 95%CI: 1.026-2.693) were the influencing factors for undernutrition; gender (boy, OR=1.956, 95%CI: 1.656-2.311), frequency of sugary beverage intake (0 time/d, OR=0.721, 95%CI: 0.528-0.984) and frequency of having physical education (0 class/week, OR=2.087, 95%CI: 1.151-3.784; 1-2 classes/week, OR=1.644, 95%CI: 1.044-2.590; 3-4 classes/week, OR=1.685, 95%CI: 1.051-2.703) were the influencing factors for overweight; gender (boy, OR=2.459, 95%CI: 1.964-3.078) was the influencing factor for obesity among students. Conclusions Undernutrition, overweight and obesity coexist in primary and middle school students in Yunfu City. Gender, school phase, frequency of sugary beverage intake and frequency of having physical education are associated with malnutrition among primary and middle school students.

Objective:To explore the hematological phenotype and genotypic characteristics of five Chinese individuals with a rare thalassemia mutation HBB: c. 93-21G>A. Methods:A retrospective study was carried out on five individuals identified by the People′s Hospital of Yangjiang and Guangzhou Hybribio Co., Ltd. from May 2018 to September 2022. Routine blood test and hemoglobin electrophoresis were performed, and the genotypes of five subjects were determined by using PCR combined with reverse dot blotting (RDB), nested PCR, Gap-PCR and Sanger sequencing. This study was approved by Medical Ethics Cornmittee of the People′s Hospital of Yangjiang (Ethics No. 20240001).Results:Among the five individuals, hematological data of one was unavailable, and the remaining four had presented with microcytosis and hypochromia. The results of hemoglobin electrophoresis indicated that all of them had a HbA 2 level of ≥4.7%. Genetic analysis showed that one case had harbored compound heterozygous mutations of ααα anti3.7 triplet and HBB: c. 93-21G>A, one had compound heterozygous mutations of -α 3.7 and HBB: c. 93-21G>A, whilst the remaining three were heterozygous for the HBB: c. 93-21G>A mutation. Conclusion:The hematological phenotype of β-thalassemia carriers ( HBB: c. 93-21G>A) is similar to that of other β + thalassemia heterozygotes with mild β-thalassemia characteristics.

Objective To investigate the status quo of pain catastrophizing(PC)in the patients with di-abetic peripheral neuropathic pain(DPNP),and to analyze the influencing factors to provide reference for for-mulating clinical preventive intervention strategies.Methods A total of 206 patients with DPNP admitted and treated in the People's Hospital of Guangxi Zhuang Autonomous Region were selected as the research sub-jects by convenience sampling method.The general data questionnaire,Numerical Rating Scale(NRS),Pain Catastrophizing scale(PCS),Perceived Social Support Scale(PSSS)and diabetes distress scale(DDS)were used to conduct the investigation.Results The incidence rate of PC in 206 cases of DPNP patients was 44.66％(92/206),and the total score of PCS was(30.10±5.16)points.The results of multiple linear regres-sion analysis showed that the gender,duration of diabetes(≥10 years),multiple drug use,number of compli-cations(＞5),NRS score,PSSS score and scores of DDS dimensions were the main influencing factors of PC(all P＜0.05),which could explain 92.3％of the total variation of PC.Conclusion The PC incidence rate in the patients with DPNP is high.Clinical healthcare workers should pay attention to the evaluation of PC in these patients,and formulate the scientific and effective targeted intervention measures according to the main influen-cing factors to help the patients to reduce the pain burden in order to reduce the level of PC.

The update of multi-omics technology is a key means to promote the rapid development of accurate health model in the whole life cycle.It can formulate dynamic and accurate nursing measures and provide massive data information from the perspective of nursing biology of health and disease.At present,clinical nursing research faces many challenges such as insufficient application and transformation ability of multi-omics technology.This paper introduces the multi-omics technology,reviews the application status of multi-omics technology in cancer nursing,maternal and child nursing,chronic metabolic disease nursing and symptom management,and puts forward the cross integration and prospect of multi-omics technology and nursing research,so as to strengthen the information mining ability of nurses at different levels of health and disease,and provide an important basis for accelerating the clinical transformation of precision nursing.

Objective To investigate the inhibitory effect of epigallocatechin gallate(EGCG)on oxidative damage to the retina in a rat model of dry age-related macular degeneration(AMD)induced by sodium iodate.Methods A total of 36 male specific pathogen-free Sprague-Dawley rats were randomly divided into the blank control group,sodium iodate group and sodium iodate+EGCG group,with 12 rats in each group.Rats in the sodium iodate group and the sodium io-date+EGCG group were given 50 mg-kg·1 sodium iodate by tail vein injection by weight to build dry AMD models,while rats in the blank control group were administered with an equal volume of normal saline.Following the modeling proce-dure,rats in the sodium iodate+EGCG group received an intravitreal injection of 4 μL EGCG(0.5 g·L-1)into their right eyes,while the right eyes of rats in both the blank control and sodium iodate groups were treated with the same volume of normal saline.After 21 days,the rats were sacrificed,and ocular samples were collected for detection.Histopathological changes of the retinal tissues in each group were examined using hematoxylin and eosin(HE)staining.Additionally,the levels of superoxide dismutase(SOD),glutathione peroxidase(GSH-Px),and malondialdehyde(MDA)in the retinal tis-sues were quantified.Western blot analysis was conducted to assess the protein expression levels of nuclear factor ery-throid-2-related factor 2(Nrf2),NADPH quinone oxidoreductase 1(NQO1),and heme oxygenase-1(HO-1)in the retinas.Furthermore,real-time quantitative polymerase chain reaction was performed to evaluate the relative messenger ribonucleic acid(mRNA)expression levels of Nrf2,NQO1 and HO-1 in the retinas of the rats.Results HE staining revealed that,in comparison to the blank control group,the entire retinal layer in the sodium iodate group exhibited injury,characterized by noticeable injury of the retinal pigment epithelial cells and disordered outer nuclear layer with wavy transformation.The so-dium iodate+EGCG group demonstrated ameliorated retinal injury across all layers compared to the sodium iodate group.Compared to the blank control group,the levels of SOD and GSH-Px were significantly reduced(both P＜0.01),while the level of MDA was significantly elevated(P＜0.01)in the sodium iodate group.Compared with the sodium iodate group,the sodium iodate+EGCG group showed a significant increase in the levels of SOD and GSH-Px(both P＜0.01),along-side a substantial decrease in the content of MDA(P＜0.01).Western blot analyses demonstrated that compared with the blank control group,the protein expression levels of Nrf2,NQO1 and HO-1 were significantly elevated in the sodium iodate group(all P＜0.01);compared with the sodium iodate group,the sodium iodate+EGCG group exhibited relatively higher protein expression levels of Nrf2,NQO1 and HO-1(all P＜0.05).The results from real-time quantitative polymerase chain reaction indicated that the relative mRNA expression levels of Nrf2,NQO1 and HO-1 in the retinas of rats in the sodium io-date group were significantly greater than those in the blank control group(all P＜0.05);compared with the sodium iodate group,the sodium iodate+EGCG group showed a significant increase in the relative mRNA expression levels of Nrf2,NQO1 and HO-1(all P＜0.05).Conclusion EGCG can improve the capacity to scavenge oxygen free radicals by promo-ting the upregulation of Nrf2 expression.This activation subsequently enhances the expression of downstream products such as NQO1 and HO-1,leading to increased levels of SOD and GSH-Px while simultaneously reducing the MDA level.Consequently,this process inhibits oxidative damage to the retina in rats with dry AMD induced by sodium iodate.