Objective:To explore the clinical and genetic characteristics of two children diagnosed with two rare genetic diseases simultaneously.Methods:Two children with comorbidity of two genetic diseases due to dual genetic mutations diagnosed at the Third Affiliated Hospital of Zhengzhou University respectively in May 2022 and March 2023 were selected as the study subjects. Clinical and genetic data of the two children were retrospectively analyzed. This study has been approved by the Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethic No. 2021-062-01).Results:Child 1 was a 2-year-and-4-month-old boy whose clinical manifestations included facial dysmorphism, developmental delay, short stature, microcephaly, cleft palate, cryptorchidism, hypospadias, recurrent infections and immunological abnormalities. Whole exome sequencing revealed that he had harbored a heterozygous c.6595delT (p.Y2199Ifs*65) variant of the KMT2D gene and a heterozygous c. 1892G>A (p.R631Q) variant of the PIK3R1 gene. This has led to a dual genetic diagnosis of Kabuki syndrome and PI3Kδ-related immunodeficiency type 36. Child 2 was a 15-year-old girl whose clinical manifestations included epilepsy, Albright′s hereditary osteodystrophy, long body trunk, short limbs, hypocalcemia, hyperphosphatemia and hyperparathyroidism. The child also had a family history of short stature. Whole exome sequencing revealed that she had harbored a heterozygous c. 2T>C (p.Met1? ) variant of the GNAS gene and deletion of exons 2 to 6 of the SHOX gene. The two variants have led to dual diagnose of pseudohypoparathyroidism and X-linked idiopathic short stature. Conclusion:When the clinical phenotype of a genetic disease is complex and cannot be fully explained with a single genetic variant, multiple pathogenic variants should be considered, and this may lead to the diagnosis of co-morbid genetic diseases. To adopt or supplement corresponding genetic testing in time and re-analyze the genetic data may facilitate accurate diagnosis of comorbid genetic diseases.

Objective The present study aims to explore the mediating role of rumination and coping styles in social support and post-traumatic stress disorder(PTSD)in young and middle-aged spinal cord injury(SCI)patients.The study will provide a basis for developing targeted interventions.Methods Two hundred and forty young and middle-aged SCI patients hospitalized for treatment were selected by convenience sampling and questionnaires were administered using the General Information Questionnaire,the Perceived Social Support Scale(PSSS),the Simplified Coping Style Questionnaire(SCSQ),the Event Related Rumination Inventory(ERRI),and the Post-traumatic Stress Disorder Self-assessment Scale(PCL-C),Mediation analysis using Model-6 with Process4.1 plugin in SPSS 25.0.Results The mean scores for PTSD,social support,rumination,positive coping,and negative coping in young and middle-aged SCI patients were 29.00(26.00,35.75),67.00(62.00,70.00),and 37.00(34.00,4 1.00),and 36.00(33.00,42.00),respectively.PTSD demonstrated a negative correlation(r=-0.553,r=-0.484,P＜0.001)and a negative correlation with positive coping and rumination(r=0.499,r=0.472,P＜0.001).The mediation modelling test demonstrated that rumination and positive and negative coping mediated significantly between social support and PTSD,with effect values of-0.078 1,-0.097 0 and-0.049 6,accounting for 17.81％,22.12％and 11.31％of the total effect,respectively.Furthermore,the chain mediation effects of rumination and positive coping and negative coping were also significant,with effect values of-0.026 3 and-0.026 2,accounting for 5.99％and 5.97％of the total effect,respectively.Conclusions The present study hypothesises that rumination,thinking and coping styles play a simple and chain-mediating role between social sup-port and PTSD in young and middle-aged SCI patients.Medical professionals should focus on the mediating role of rumination and coping styles when developing interventions related to improving and preventing PTSD in patients,which can be done by increasing the level of social support for patients,decreasing the level of rumination,and guiding patients to positively cope with their illness.

BACKGROUND:At present,the incidence of scoliosis is increasing year by year,especially in adolescent idiopathic scoliosis.Therefore,it is more and more important to strengthen the research on the treatment of adolescent scoliosis. OBJECTIVE:To summarize the current status,hotspots,emerging trends,and frontiers of global research on the treatment of adolescent idiopathic scoliosis to provide reference and guidance for future related research. METHODS:The literature related to the treatment of adolescent idiopathic scoliosis was retrieved on the Web of Science Core Collection(WOSCC)database from 2013 to 2023.CiteSpace 6.2.R1 software was used for visual analysis of countries,institutions,authors,and keywords. RESULTS AND CONCLUSION:(1)A total of 561 English articles were included in this study.Among countries,institutions,and authors,the United States has contributed the most.Nanjing University and Qiu,Yong(Affiliated Drum Tower Hospital,Nanjing University School of Medicine)are the most published institution and author.The academic journal with the largest number of articles is the European Spine Journal.(2)In the analysis of cited literature,the top 10 most cited articles mainly describe the effects of surgical treatment and conservative treatment on improving adolescent idiopathic scoliosis,especially improving the curvature of patients.(3)Through the summary of highly cited articles and the keyword clustering,keyword prominence in-depth mining,the research hotspots are currently the relationship between Cobb angle and treatment choice,the therapeutic effect of exercise therapy and the therapeutic effect of posterior vertebral fusion.(4)The prognosis of patients with different curvatures has not been studied in depth,and the etiology of adolescent idiopathic scoliosis has not been clarified,so the relationship between curvature and prognosis and the etiology of adolescent idiopathic scoliosis may be a new research trend in the future.

Objective To investigate the impact of scenario class teaching on language expression,communication skills,and final exam performance of non-clinical majors students in the course of Medical Parasitology.Method Undergraduate students of non-clinical medical programs from Kunming Medical University in 2022 were selected as the subjects and randomly divided into a scenario class group and a non-scenario class group.Questionnaires were administered to compare the two groups regarding their interest in the laboratory classes,enjoyment levels,and knowledge retention.Additionally,the final exam scores of the two groups were compared.Results Students in the scenario class group showed significantly higher interest(82.6%)and enjoyment levels(88.3%)for laboratory classes compared to the non-scenario class group(73.0%and 60.1%,respectively,P<0.05).Students in the scenario class group believed that situational teaching enhanced their self-learning ability(82.06%),interest in learning(83.2%),willingness to express themselves(83.2%),confidence in expression(81.8%),and communication skills(87.9%).Additionally,It effectively facilitated their understanding of the occurrence and development of parasitic diseases(85.9%)and familiarity with the diagnosis and treatment process(86.8%),thereby cultivating clinical thinking.In terms of final exam scores,the scenario class group had a higher average score(22.80±0.18)than the non-situational classroom group(21.47±0.17,P<0.05).Conclusion Sc-enario class teaching in Medical Parasitology can effectively improve students'self-learning ability,language expression,and communication skills,cultivate clinical thinking,and enhance academic performance,demonstrating significant teaching advantages.

OBJECTIVE: To explore the clinical and genetic characteristics of two children diagnosed with two rare genetic diseases simultaneously. METHODS: Two children with comorbidity of two genetic diseases due to dual genetic mutations diagnosed at the Third Affiliated Hospital of Zhengzhou University respectively in May 2022 and March 2023 were selected as the study subjects. Clinical and genetic data of the two children were retrospectively analyzed. This study has been approved by the Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethic No. 2021-062-01). RESULTS: Child 1 was a 2-year-and-4-month-old boy whose clinical manifestations included facial dysmorphism, developmental delay, short stature, microcephaly, cleft palate, cryptorchidism, hypospadias, recurrent infections and immunological abnormalities. Whole exome sequencing revealed that he had harbored a heterozygous c.6595delT (p.Y2199Ifs*65) variant of the KMT2D gene and a heterozygous c.1892G>A (p.R631Q) variant of the PIK3R1 gene. This has led to a dual genetic diagnosis of Kabuki syndrome and PI3Kδ-related immunodeficiency type 36. Child 2 was a 15-year-old girl whose clinical manifestations included epilepsy, Albright's hereditary osteodystrophy, long body trunk, short limbs, hypocalcemia, hyperphosphatemia and hyperparathyroidism. The child also had a family history of short stature. Whole exome sequencing revealed that she had harbored a heterozygous c.2T>C (p.Met1?) variant of the GNAS gene and deletion of exons 2 to 6 of the SHOX gene. The two variants have led to dual diagnose of pseudohypoparathyroidism and X-linked idiopathic short stature. CONCLUSION When the clinical phenotype of a genetic disease is complex and cannot be fully explained with a single genetic variant, multiple pathogenic variants should be considered, and this may lead to the diagnosis of co-morbid genetic diseases. To adopt or supplement corresponding genetic testing in time and re-analyze the genetic data may facilitate accurate diagnosis of co-morbid genetic diseases.
Child, Preschool ; Female ; Humans ; Male ; Class Ia Phosphatidylinositol 3-Kinase/genetics* ; Comorbidity ; Exome Sequencing ; Mutation ; Rare Diseases/genetics* ; Retrospective Studies ; Adolescent

Objective:It aims to systematically evaluate the current status of knowledge,attitude,and practice(KAP)regarding universal commercial medical insurance among residents of the sample province from the demand-side perspective.Methods:Utilizing a quota sampling method,face-to-face surveys were conducted via the Questionnaire Star platform to collect demographic characteristics and KAP data of the participants.Comparisons of differences among different groups were made using t-tests,analysis of variance,and chi-square tests.Furthermore,multiple linear regression and structural equation modeling were utilized to analyze the influencing factors of KAP,as well as the pathways among these three factors.Results:Out of the 415 valid questionnaires collected,there were notable differences in KAP among respondents with diverse demographic backgrounds.Regression analysis revealed that education level,frequency of health check-ups,and engagement in other commercial health insurances significantly influenced knowledge;education level,involvement in other commercial health insurances,and self-assessed health status were pivotal in shaping attitudes;whereas age,education level,frequency of health check-ups,and participation in other commercial health insurances were critical in affecting practice.The path analysis results indicate that knowledge of universal commercial medical insurance has a significant direct association with attitude(β=0.379,P＜0.001)and practice(β=0.323,P＜0.001).It also influences practice through attitude as a mediator(β=0.016,P＜0.001),but the direct effect of attitude on practice is not significant(β=0.04,P=0.403).Conclusion:While residents in the sample province exhibit a positive attitude towards universal commercial medical insurance,there is a need to enhance their level of knowledge and engagement in practice.It is recommended to strengthen targeted educational and promotional measures to promote the healthy and sustainable development of universal insurance.

AIM:To investigate the expression of AU-rich element RNA-binding factor 1(AUF1),an RNA-binding protein,in hepatocellular carcinoma(HCC),and to explore its potential role in HCC progression through regula-tion of metabolism-related genes.METHODS:A tissue microarray containing 99 HCC samples and 95 adjacent nontu-morous liver tissues was used to assess AUF1 expression.The associations between AUF1 expression and HCC clinical pa-rameters were analysed using the GEPIA and UALCAN databases.The AUF1 gene was knocked down in human hepato-blastoma HepG2 cells by siRNA,and transcriptomic and TMT quantitative proteomic analyses were performed to identify alterations in metabolism-related genes.RESULTS:The AUF1 expression was significantly elevated in HCC tissues and correlated with a poor prognosis.Knockdown of AUF1 in HepG2 cells resulted in reduced cell viability and increased apop-tosis.Integrative analyses of transcriptomic and proteomic data revealed that AUF1 knockdown in HepG2 cells led to up-regulation of carboxylesterase 3(CES3),fibrinogen gamma chain(FGG)and 4-hydroxy-2-oxoglutarate aldolase 1(HOGA1),and down-regulation of lamin B receptor(LBR),riboflavin kinase(RFK),sterol O-acyltransferase 1(SOAT1)and TWIST neighbor(TWISTNB).Clinical data from GEPIA and UALCAN databases suggested that the expression of these metabolism-related genes in HCC patients exhibited an opposite trend.CONCLUSION:Our findings suggest that AUF1 is highly expressed in HCC,and may contribute to tumor progression and poor prognosis by modulating the expres-sion of a series of metabolism-related genes.

Objective To explore the differences in inflammatory cytokine levels between adolescent patients with unipolar and bipolar depressive disorders.Methods A total of 32 patients aged 15-24 years with major depressive disorder(unipolar group),53 patients with bipolar depressive episodes(bipolar group),and 25 healthy controls(control group)were enrolled.The 17-item Hamilton depression scale(HAMD-17),Hamilton anxiety scale(HAMA),and 32-item hypomania checklist(HCL-32)were used to assess the clinical symptoms of the patients.The levels of inflammatory cytokines in all samples were measured using the enzyme-linked immunosorbent assay(ELISA)method.Results Compared with the unipolar group,the bipolar group had an earlier age of onset,a longer total disease duration,a shorter current episode duration,lower HAMD scores,and higher HCL-32 scores,with significant differences(P<0.05).There were significant differences in the levels of interleukin-1β(IL-1β),IL-6,interferon-γ(INF-γ),tumor necrosis factor-α(TNF-α),tumor necrosis factor receptor 2(TNFR2),IL-4,IL-10,and IL-13 among the three groups of subjects(P<0.05).Pairwise comparison showed that compared with the control group,both unipolar and bipolar groups exhibited the significant elevations in pro-inflammatory cytokines IL-1β,IL-6,and TNF-α(all P<0.05)and remarkable reductions in the anti-inflammatory cytokines IL-4,IL-10,and IL-13(all P<0.05).The levels of INF-γ and TNFR2 were significantly higher in the bipolar group than in the control group(P<0.05).Compared with the unipolar group,the levels of INF-γ[43.25(29.27,53.63)pg/mL vs.62.76(39.27,89.16)pg/mL]and IL-13[16.92(14.74,24.02)pg/mL vs.22.29(17.35,36.52)pg/mL]were significantly increased in the bipolar group.Multivariate logistic regression analysis showed that IL-13(OR=1.078,95％CI:1.011-1.150,P=0.022)was independently associated with bipolar depressive disorder.Conclusion Adolescents with unipolar and bipolar depressive disorders exhibit changes in inflammatory cytokines,and the IL-13 and INF-γ are higher in bipolar depressive episodes than in major depressive disorder.Higher levels of IL-13 are associated with bipolar depressive disorder.

Palliative care has become an important medical measure to provide professional healthcare and alleviate patients' suffering. Nurse-led palliative care models enable patients to access palliative care services in a timely manner and can be applied across various healthcare settings. This paper reviews the current status of nurse-led palliative care models in China and internationally, summarizes the summarizes the intervention settings, care forms, implementation contents, and effects of nurse-led palliative care models, and expounds on the existing barriers and improvement strategies of nurse-led palliative care models in China. The aim is to provide a reference for the implementation and development of palliative care.