Objective To investigate the mediating role of anxiety and depression in social sup-port and burnout among primary caregivers of stroke patients.Methods A convenience sampling method was employed to select 506 primary caregivers of stroke patients as research subjects.The Gen-eral Information Questionnaire,Caregiver Burnout Inventory for Stroke Patients,Multidimensional Scale of Perceived Social Support,and Hospital Anxiety and Depression Scale were used for data col-lection.Results The total scores for caregiver burnout,social support,anxiety,and depression a-mong primarycaregivers of stroke patients were(72.83±14.32),(47.79±7.74),(10.49±3.00),and(10.45±3.06),respectively.Correlation analysis revealed a negative correlation between caregiver burnout and social support(r=-0.245,P＜0.001),and positive correlations with anxiety and depression(r=0.178,0.216,P＜0.001).Anxiety and depression partially media-ted the relationship between social support and caregiver burnout,accounting for 7.9％and 10.7％of the total effect,respectively.Conclusion Social support,anxiety,depression,and burnout are closely interrelated.Social support can directly or indirectly influence the occurrence of burnoutthrough anxiety and depression.Medical staff should pay attention to the anxiety and depression status of primary caregivers of stroke patients and enhance social support levels to reduce the incidence of burnout by alleviating anxiety and depression.

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:To explore the application and clinical significance of Automatic Functional Imaging (AFI) technology in evaluating left ventricular and left atrial damage in patients with alcoholic cardiomyopathy.Methods:A total of 120 patients with alcoholic cardiomyopathy who visited the Affiliated Hospital of Jining Medical University from April 2021 to March 2023 were selected, including 40 patients with mild, moderate, and severe alcohol consumption each. At the same time, 40 healthy volunteers who did not drink alcohol were selected as controls. All subjects underwent ultrasound examination, and the differences in two-dimensional ultrasound and AFI parameters among the groups were analyzed. Pearson correlation analysis was used to evaluate the correlation between AFI parameters and two-dimensional ultrasound parameters. The diagnostic value of global long axis peak systolic strain (GLPS) of the left ventricle in alcoholic cardiomyopathy was analyzed using receiver operating characteristic (ROC) curves.Results:The left ventricular end diastolic diameter (LVDd), left ventricular end systolic diameter (LVDS), end diastolic interventricular septal thickness (IVSTd), end diastolic left ventricular posterior wall thickness (PWTd), left atrial minimum volume (LAVmin), left atrial maximum volume (LAVmax), and left atrial active pre systolic volume (LAVp) in the severe group were significantly larger than those in the control group, mild group, and moderate group (all P<0.05), while the left ventricular ejection fraction (LVEF) and the ratio of E peak velocity to A peak velocity (E/A) were significantly smaller than those in the control group, mild group, and moderate group (all P<0.05); The left ventricular end diastolic volume (LVEDV), left ventricular end systolic volume (LVESV), left ventricular mass index (LVMI), LAVmin, LAVmax, and LAVp in the moderate and severe groups were significantly higher than those in the control and mild groups (all P<0.05); There was no statistically significant difference in LVDd, LVDS, IVSTd, PWTd, and LVEF among the control group, mild group, and moderate group (all P>0.05). The GLPS levels in the mild, moderate, and severe groups were significantly higher than those in the control group (all P<0.05), with the severe group having significantly higher GLPS levels than the mild and moderate groups ( P<0.05); There was no statistically significant difference in peak strain dispersion (PSD) among the control group, mild group, moderate group, and severe group (all P>0.05). GLPS was negatively correlated with LVEF ( r=-0.441, P<0.05), while GLPS was positively correlated with LVMI ( r=0.504, P<0.05). The area under the ROC curve for diagnosing alcoholic cardiomyopathy with GLPS was 0.912 (95% CI: 0.869-0.955, P<0.05), with a cutoff value of -20.16, sensitivity and specificity of 76.70% and 95.00%, respectively. Conclusions:The mechanical properties of the left ventricle and left atrium in patients with alcoholic cardiomyopathy are significantly altered, and AFI parameters have certain application value in the diagnosis of alcoholic cardiomyopathy.

Objective To investigate the expression levels of scf and c-kit under the regulation of Dahuang Lingxian prescription and the possible mechanism of its effect on gallbladder dynamics, and to provide a theoretical basis for Dahuang Lingxian prescription in preventing the development and recurrence of cholesterol gallstone. Methods A total of 45 specific pathogen-free healthy male guinea pigs were randomly divided into normal group, model group, and traditional Chinese medicine (TCM) group. The guinea pigs in the normal group were fed with normal diet, and those in the model group and the TCM group were fed with high-fat lithogenic diet. After 8 weeks of feeding, 5 guinea pigs were randomly selected from each group, and successful modeling was determined if gallstone was observed with the naked eye in more than 4 guinea pigs. After successful modeling, the guinea pigs in the TCM group were given Dahuang Lingxian prescription by gavage, and those in the model group were given an equal volume of normal saline by gavage. After 8 consecutive weeks of administration by gavage, gallbladder tissue samples were collected, and HE staining was used to observe the pathological changes of gallbladder tissue; Western blot was used to measure the expression level of tumor necrosis factor-α (TNF-α) in gallbladder tissue; immunohistochemistry was used to measure the protein expression levels of scf and c-kit in gallbladder smooth muscle tissue. A one-way analysis of variance was used for comparison of normally distributed continuous data between multiple groups, and the least significant difference multiple comparison method was used for further comparison between two groups. Results HE staining showed marked inflammation of gallbladder tissue in the model group, and compared with the model group, the TCM group had a significantly lower degree of inflammation. Western blot showed that the model group had the highest expression level of TNF-α in gallbladder tissue, followed by the TCM group and the normal group ( P < 0.05); immunohistochemistry showed that compared with the model group, the normal group and the TCM group had significantly higher protein expression levels of scf and c-kit in gallbladder smooth muscle tissue ( P < 0.05). Conclusion Dahuang Lingxian prescription can enhance the dynamic function of the gallbladder, possibly by upregulating the scf/c-kit signaling pathway in interstitial cells of Cajal in gallbladder.

Objective This study aimed to assess the diagnostic value of anti-mutated citrullinated vimentin (MCV) antibodies in rheumatoid arthritis (RA) and its correlation with disease progression, extra-articular manifestations and overlap syndrome. Methods Retrospective Studies. Clinical data of 837 patients in PekingUnionMedicalCollegeHospitalfrom June to August 2017 were collected, including the result of anti-MCV, anti-cyclic citrullinated peptide (anti-CCP) antibodies, rheumatoid factor (RF), erythrocyte sedimentation rate (ESR) and High-sensitivity-C-reactive protein (CRP). According to the 1987 American College of Rheumatology classification criteria for rheumatoid arthritis, there were 323 patients diagnosed with RA, including 59 males and 264 females with the average age of 51 years. According to whether the RA patients have overlap syndrome with other autoimmune disease (AID) or have extra-articular manifestations, 258 cases were categorized into RA group, including 47 males and 211 females with the average age of 50 years; 14 cases were categorized into the group of overlap syndrome, including 1 male and 13 females with the average age of 36 years;51 cases were categorized into the group of extra-articular manifestations, including 11 males and 40 females with the average age of 59 years.According to 2010 rheumatoid arthritis classification criteria for destruction in joints, the radiographic changes were divided into 4 stages. There were 203 casesenrolled in our study, 88 caseswere fitted into early stage group (stage I)including 21 males and 67 females with the average age of 48 years; 115 caseswere fitted into progressive stage group, which compromisedstageⅡ (interim stage), stage Ⅲ (severe stage) and stage Ⅳ(final stage) cases, including 19 males and 96 females with the average age of 53 years. Mann-Whitney U test, x2 test, Receiver operating characteristic (ROC) curves and Spearmancorrelation coefficientwere used in Statistical analysis. Results Ⅰ Amongdiagnosed RA patients, 199 (61.6％) cases were positive for anti-MCV, anti-CCP and RFsimultaneously, 42 (13％) cases were positive for anti-MCV, which was higher than anti-CCP positive (1 cases, 0.3％) or RF positive (7cases, 2.2％). The difference was statistically significant(P<0.001, P<0.001). ⅡROC was calculated and MCV=35.95 U/ml was used as best-fit cut-off value. The AUC for anti-MCV was 0.867, while the sensitivity was 80.5％and specificity was 80.9％.ⅢThe detection levels of anti-MCV (682.8 (106.4-1000.0)), anti-CCP (407 (4.0-1536.0)) and RF (82.8 (21.1-244.9)) in the group of progressive stage were higher than those in the group of early stage (114.5 (28.5-1000.0), 62.5 (5.0-1020.7), 50.1 (6.7-127.1)), which showed a significant difference(P<0.05, P<0.05, P<0.05). The anti-MCV, anti-CCP and RF were positively related to the degree of joint destruction (r=0.229, P<0.05;r=0.187, P<0.05;r=0.167, P<0.05);anti-MCV and anti-CCP were positively related to extra-articular manifestation (r=0.152, P<0.05;r=0.136, P<0.05). Conclusion Anti-MCV antibodies are more sensitive in patients with RA, and have complementary diagnostic value for anti-CCP and RF-negative patients; high levels of anti-MCV and anti-CCP in RA patients are associated with RA progression and extra-articular involvement.

Objective To develop the clinical practice guidelines for the management of medication adherence to highly active antiretroviral therapy (HAART) in China. Methods The development methods included qualitative interview of 31 stakeholders, questionnaire survey of 423 PLHIV, adaptation of 30 clinical practice guidelines related to AIDS care, and overviews of reviews of 44 systematic reviews/Meta-analysis. Results 10 clinical practice guidelines and 10 systematic reviews/Meta-analysis were included. The clinical practice guidelines for the management of HAART were formed. Conclusions The formed clinical practice guidelines showed better applicability and higher general quality. It is recommended to use the guidelines in AIDS care.

Objective To explore the clinical nursing path teaching method application in children with mycoplasma pneumonia and its effect.Methods 93 higher vocational nursing students of two classes of Grade 2011 were chosen as the subjects,one class as the experimental group(46),and the other class as the control group(47).The traditional teaching method was used in the control group,while method of clinical nursing path was used in the experimental group.Two groups of nursing students were given closed book exams and questionnaires to evaluate teaching effectiveness of the two groups.SPSS 13.0 was used for statistical analysis,count data using x2 test,measurement data using t-test,test level α=0.05.Results The experimental group students' test scores were significantly higher than the control group(85.26 ± 3.57)vs.(76.39 ± 4.16),and the difference was statistically significant P=-0.02.The survey showed that there were more students in the experimental group than in the control group who made a positive comment on the questionnaire's role in helping improve students'learning autonomy,their critical thinking ability,and promote their grasp of the content of the disease.Conclusion Clinical nursing path teaching method as a new kind of teaching method,can improve the teaching effect.

Objective To observe the effect of conventional therapy plus trimetazidine on alcoholic cardiomyopathy (ACM) and plasma brain natriuretic peptide (BNP).Methods Eighty-six cases of ACM patients were divided into control group and observation group by random digits table method with 43 cases each.Control group was treated with conventional therapy,while observation group was added trimetazidine.Course of treatment was 3 months.The left ventricular ejection fraction (LVEF),left ventricular end diastolic diameter (LVEDD),6 min walk distance,plasma BNP before and after treatment and the efficiency in two groups was observed and compared.Results LVEF,LVEDD,6 min walk distance,BNP before treatment in control group were respectively (37.2 ±7.4)％,(57.6 ±7.4) mm,(312.8 ±21.6) m,(846.2 ±63.7)μg/L,and the indicators in observation group were respectively (38.5 ±8.1)％,(57.1 ±6.8) mm,(316.5 ± 23.9) m,(857.6 ± 61.4) μ g/L.All indicators between two groups was no statistically different (P＞0.05).LVEF,LVEDD,6 min walk distance,BNP after treatment in control group were respectively (43.5 ±8.6)％,(54.3 ± 6.4) mm,(511.6 ± 26.7) m,(679.4 ± 51.3) μg/L,and there were significant difference compared with those before treatment (P ＜ 0.05).LVEF,LVEDD,6 min walk distance,BNP after treatment in observation group were respectively (51.6 ± 9.2)％,(51.2 ± 6.3) mm,(579.3 ± 25.1) m,(536.5 ± 50.6)μ g/L,and there were significant difference compared with those before treatment (P ＜ 0.05).There were significant difference in LVEF,LVEDD,6 min walk distance and BNP after treatment between two groups (P ＜ 0.05).The total effective rate in observation group was 90.7％ (39/43),which was significantly higher than that in control group [72.1％ (31/43)] (x2 =4.914,P ＜ 0.05).Conclusion Adding trimetazidine on the basis of conventional therapy can improve the cardiac function and myocardial remodeling of ACM patients and improve clinical efficacy.

Objective To investigate the relationship of the1675A/G polymorphism of AT2 gene with the therapeutic effect of indapamide sustained release tablets in female patients with primary hypertension.Methods Two hundred and twenty female patients with primary hypertension were treated with Indapamide Sustained Release Tablets ( 1.5 mg · qd) for 8 weeks.The blood samples from the patients were collect to determine AT2 gene polymorphism by PCR combined with HRM and sequencing.Results Two hundred and five patients completed the test.In female patients,the therapeutic efficacy of indapamide sustained telease tablets among different AT2R genotypes( AA:70.6％,AG:71.6％,GG:71.4％ ) showed no significant difference ( x2=2.53,P=0.49 ),neither do the decline of BP after therapy ( F=0.39 and 0.19 respecrively,P ＞ 0.05).Conclusion The AT2 genotype was assumed to be not correlated to the blood pressure lowering response to Indapamide Sustained Release Tablets in female primary hypertension patients.

OBJECTIVETo explore the effects of chronic exposure to trace chromium (VI) as a result of metal-on-metal hip arthroplasty on oxidative stress in mouse liver cells.

METHODSEighty NIH mice were randomly divided into 4 groups and subject to intraperitoneal injection of CrO(3) at the dose of 0, 5, 10 or 20 mg/kg every other day for 16 weeks. Five mice from each group were selected every 4 weeks for determining the content of chromium (VI) in the whole blood and the levels of reactive oxygen species (ROS), malondialdehyde (MDA), glutathione (GSH), glutathione reductase (GR) activity, and glutamate cysteine ligase (GCL) expression in the liver cells. The ultrastructural changes of the liver cells were also observed using transmission electron microscopy.

RESULTSExposure to 5 and 10 mg/kg CrO(3) caused significantly increased blood chromium concentration and ROS level, which reached the peak level at 8 weeks and became stabilized, whereas at the dose of 20 mg/kg, CrO(3) exposure resulted in progressive, time-dependent increase of blood chromium concentration and ROS level. MDA showed no significant changes in the 4 groups. With the prolongation of the exposure time, GSH content and GR activity were decreased in these groups. In 5 and 10 mg/kg CrO(3) groups, GCL expression increased at each time point of measurement, but in 20 mg/kg group, GCL expression decreased gradually with a prolonged exposure. Transmission electron microscopy revealed apoptotic changes of the liver cells in 20 mg/kg group.

CONCLUSIONThe slow accumulation of trace chromium (VI) after metal-on-metal hip arthroplasty may cause oxidative stress and changes in the oxidative stress system in the liver cells.

Animals ; Apoptosis ; Chromium ; administration & dosage ; toxicity ; Environmental Exposure ; Glutathione ; metabolism ; Hepatocytes ; metabolism ; pathology ; Malondialdehyde ; metabolism ; Mice ; Oxidative Stress ; Reactive Oxygen Species ; metabolism ; Superoxide Dismutase ; metabolism ; Toxicity Tests, Chronic