Objective:To analyze the clinical phenotype and genetic characteristics of a patient with Isidor-Toutain spinal epiphyseal dysplasia (SEMD) due to variant of RPL13 gene. Methods:A pregnant woman at 18 weeks of gestation who had presented at Quzhou Maternal and Child Health Care Hospital on January 14, 2023 was selected as the study subject. Whole exome sequencing (WES) was carried out for the patient, and candidate variant was validated by Sanger sequencing and bioinformatic analysis.Results:The woman was 37 years old with extremely short stature (135 cm) and "O" shaped legs. WES revealed that she has harbored a c. 548G>C (p.Arg183Pro) missense variant of the RPL13 gene (NM_000977.4). The same variant was not found in her fetus. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be likely pathogenic (PS4+ PM2_Supporting+ PP3+ PP4). Conclusion:Isidor-Toutain type SEMD due to variants of the RPL13 gene may have variable expressivity and diverse clinical phenotypes. Above finding has facilitated the differential diagnosis and genetic counseling for this family.

ObjectiveTo observe the effect of Flemiphilippinin D on collagen-induced arthritis （CIA） in rats and explore its mechanism. MethodForty rats were randomly divided into normal group， CIA group， methotrexate （MTX） group （1.35 mg·kg^-1）， low-dose Flemiphilippinin D group （1.5 mg·kg^-1）， and high-dose Flemiphilippinin D group （3.0 mg·kg^-1）， with eight rats in each group. Except for the normal group， the CIA model was induced by type Ⅱ collagen. Each group was given corresponding liquid medicine or normal saline， once a week in the MTX group， and once a day in the Flemiphilippinin D groups for a total of 28 days. The arthritis score and joint swelling degree of rats were experimentally recorded. Pathological changes in the ankle joint of rats were observed by hematoxylin-eosin （HE） staining. Serum levels of inflammatory cytokines interleukin （IL）-1β， IL-6， IL-8， and tumor necrosis factor （TNF）-α were detected by enzyme-linked immunoabsorbent assay （ELISA）， and the mRNA expression of Toll-like receptor 2 （TLR2）， myeloid differentiation factor 88 （MyD88）， and nuclear transcription factor-κB （NF-κB） p65 were detected by Real-time fluorescence quantitative polymerase chain reaction （Real-time PCR）， and the protein expressions of TLR2， MyD88， and NF-κB p65 were detected by Western blot. ResultCompared with the normal group， the ankle joint of the CIA group was significantly swollen， and the clinical score of arthritis and the degree of joint swelling were significantly increased （P<0.01）. The ankle joint tissue structure was significantly damaged， and the levels of inflammatory factors IL-1β， IL-6， IL-8， and TNF-α in serum were significantly increased （P<0.01）. The mRNA levels and protein levels of TLR2， MyD88， and NF-κB p65 were significantly increased（P<0.01）. Compared with the CIA group， arthritis clinical score and joint swelling of rats in each administration group were significantly reduced （P<0.05， P<0.01）， and the pathological changes in the ankle joint were significantly improved. The contents of serum IL-1β， IL-6， IL-8， and TNF-α were significantly decreased （P<0.05， P<0.01）. The mRNA levels and protein levels of TLR2， MyD88， and NF-κB p65 in the ankle joint were significantly decreased （P<0.05， P<0.01）. ConclusionTo a certain extent， Flemiphilippinin D can reduce the expression of inflammatory factors in rheumatoid arthritis rats and play a good therapeutic effect. It works perhaps by inhibiting the activation of the TLR2/MyD88/NF-κB signaling pathway and thus shows an anti-inflammatory effect.

Objective:To investigate the expression level and clinical value of miR-28-5p in patients with aspiration pneumonia.Methods:This was a retrospective controlled study. A total of 60 patients with severe pneumonia in the Intensive Care Unit of Jinshan Hospital Affiliated to Fudan University were selected as the study group. According to the pathogenic factors, the patients were divided into the aspiration pneumonia group and other infectious pneumonia group. At the same time, 20 healthy physical examination patients in our hospital were selected as the healthy control group. Venous blood was collected from patients in the study group on days 1, 4, and 7. The expression level of miR-28-5p in serum was detected by reverse transcription-polymerase chain reaction (RT-PCR), and the serum levels of interleukin-4 (IL-4), IL-6, IL-8, IL-10, and tumor necrosis factor-α (TNF-α) were detected by enzyme-linked immunosorbent assay (ELISA) assay. The clinical detection results of C-reactive protein (CRP) and procalcitonin (PCT) in the study group were collected. Statistical analysis was conducted with SPSS 26.0. Then the diagnostic value of serum miR-28-5p for aspiration pneumonia was analyzed by receiver operating characteristic (ROC) curve, and the correlation between serum miR-28-5p and IL-4, IL-6, IL-8, IL-10, TNF-α, CRP and PCT was analyzed by Pearson method. According to the clinical effect of 10 days of treatment, the patients were divided into the good prognosis and poor prognosis groups, and the relationship between miR-28-5p and the expression levels of various inflammatory factors and prognosis was analyzed.Results:Compared with the healthy control group, the level of serum miR-28-5p in the study group was significantly increased, and the level of serum miR-28-5p in the aspiration pneumonia group was much lower than that in the other infectious pneumonia group ( P<0.05). Compared with day 0, the expression level of serum miR-28-5p in the aspiration pneumonia group was highly increased, with statistical significance ( P<0.05). ROC curve of serum miR-28-5p expression in aspiration pneumonia showed that AUC was 0.871. When the critical value was 1.211, the sensitivity was 76.67% and the specificity was 95%. Pearson correlation analysis showed that miR-28-5p was positively correlated with IL-6 ( P<0.05), and negatively correlated with IL-4 and IL-10 ( P<0.05). ROC curve analysis showed that the area under the curve of age, miR-28-5p, IL-8, IL-10, TNF-α, CRP, and PCT were 0.695, 0.813, 0.655, 0.668, 0.724, 0.651, and 0.661, respectively. Conclusions:Serum miR-28-5p has important reference significance for the diagnosis of aspiration pneumonia, and has certain value for distinguishing different types of aspiration pneumonia. The expression of miR-28-5p in serum is expected to be a new biomarker to judge the prognosis of patients with severe pneumonia. Age, TNF-α, IL-8, IL-10, CRP and PCT are correlated to the prognosis of severe pneumonia.

Objective:To systematically review the disease treatment and management experience of parents of children with attention deficit hyperactivity disorder (ADHD) .Methods:Qualitative or mixed studies on the treatment and management experience of parents of children with ADHD were searched in databases such as PubMed, Embase, Cochrane Library, Web of Science, PsycINFO, Scopus, CINAHL, ProQuest, China National Knowledge Infrastructure, WanFang Data, and VIP. The search period was from database establishment to October 8, 2022. The quality of the included literature was evaluated using the quality evaluation criteria for qualitative research of the Joanna Briggs Institute Evidence-Based Health Care Center. Nvivo 11 software was used to integrate the results through aggregation integration methods.Results:A total of 13 articles were included and 36 research results were extracted.The results were categorized into 10 new categories and formed into 4 integrated results, including the impact of disease cognition of parents of children with ADHD on medical seeking behavior, psychological adjustment of parents of children during treatment, disease response of parents of children, and social resource needs for treatment and management of children.Conclusions:The role and responsibility of parents in the treatment and management of ADHD children are very important. We need to strengthen the popularization of knowledge about ADHD, enhance parents' awareness of the disease, pay attention to parents' psychological status, provide multi-channel social support, meet the treatment and educational needs of children, and promote the construction of an individualized and multidisciplinary comprehensive management system to improve the short-term and long-term outcomes of ADHD children.

Objective:To investigate the status of family function of patients after hysterectomy, explore the effect of self-concealment on family function.Methods:From January to November 2021,the 177 patients after hysterectomy in Guangdong Provincial People ′s Hospital were investigated by General Data Questionnaire, Family APGAR Indexand Self-Concealment Scale (SCS), and the influencing factors of family function were analyzed by univariate analysis and binary logistic regression. Results:The total score of APGAR and SCS was 9.00 (6.50, 10.00) and 24.00 (17.00, 33.00) after hysterectomy. Univariate analysis showed that marital status, working conditions and tendency of self-concealment were the influencing factors of family function. In the regression analysis of binary Logistic, tendency of self-concealment( P<0.01) and marital status ( P<0.01) entered the regression equation. Conclusions:The family function of patients after hysterectomy is generally good, and self-concealment is a risk factor. It is suggested that in clinical work, attention should be paid to the tendency of self-concealment in patients after hysterectomy, and targeted intervention measures should be taken to improve their family function.

Objective:To explore the application effect of early intervention of pulmonary rehabilitation management in emergency department-ward linkage under multi-disciplinary team (MDT) mode in patients with acute exacerbation of chronic obstructive pulmonary disease (AECOPD).Methods:Using convenient sampling method, 124 AECOPD patients admitted to Department of Emergency of Qilu Hospital of Shandong University (Qingdao) were selected as the study objects. According to the admission order, 62 patients admitted from March to October 2020 were taken as the control group, and 62 patients admitted from March to October 2021 were taken as the observation group. The control group was given routine treatment and rehabilitation guidance. On the basis of this, the observation group received the early lung rehabilitation management of emergency-ward linkage under MDT mode. The arterial oxygen saturation, lung function index (FEV 1, FEV 1%Pred, FEV 1/FVC), 6-minute walk test (evaluation only after intervention) and quality of life of patients were evaluated before and after intervention. Results:Finally, 60 patients in each group completed the study. After the intervention, the arterial oxygen saturation, the score of quality of life, 6-minute walk test and FEV 1, FEV 1%Pred, FEV 1/FVC of patients in observation group were 0.93 ± 0.04, (29.68 ± 4.87) points, (341.93 ± 46.55) m, and (1.86 ± 0.68) L, (66.13 ± 8.96)%, (68.2 ± 58.53)%, respectively. And in the control group, they were 0.91 ± 0.04, (35.83 ± 2.94) points, (268.75 ± 50.78) m, and (1.50 ± 0.66) L, (61.70 ± 7.16)%, (64.10 ± 8.42) %, respectively. The observation group was significantly better than the control group ( t values were -8.23 to 8.37, all P<0.01). Conclusions:Early intervention of pulmonary rehabilitation by emergency-ward linkage under MDT mod can effectively improve arterial oxygen saturation, pulmonary function, exercise ability and quality of life of patients with AECOPD.

Objective:To explore the current level of knowledge, attitude and practice of rehabilitation for postpartum diastasis recti abdominis inpuerperae, and analysis the influencing factors of behavior, in order to provide a reference frame for nursing staff to formulate effective health education programs.Methods:From November 2020 to April 2021, a self-designed questionnaire was used to investigate 522 puerperae from 4 tertiary hospitals in Guangdong province, Jiangsu province and Zhejiang province, to explore their level of knowledge, attitude and behavior of rehabilitation for postpartum diastasis recti abdominis. Mann-Whitney Utest or Kruskal-Wallis Htest was used for univariate analysis, Binary Logistic regression analysis was used to analysis the influencing factors of rehabilitative behavior.Results:The median score of knowledgedimension, attitude dimension and behavior dimension of rehabilitation for postpartum diastaisis recti abdominis in puerperae respectively were 47.0 (36.0, 55.0), 26.0 (24.0, 31.0), 15.0 (10.0, 18.0) points. The results show that the main factors influencing of rehabilitation behaviorfor postpartum diastaisis recti abdominis in puerperae were knowledge ( χ2 = 87.78, P<0.05), attitude ( χ2 = 4.77, P<0.05), number of deliveries ( χ2 = 3.94, P<0.05) and family personal monthly income ( χ2 = 4.88, P<0.05). Conclusions:At present, puerperae have a positive attitude towards rehabilitation for postpartum diastasis recti abdominis, but the level of knowledge and practice of rehabilitation for postpartum diastasis recti abdominisneed to be improved.Nursing staff should focus on puerperae with incomplete knowledge, negative attitude, multiple deliveries and low family personal monthly income.

Objective:To investigate the application value of noninvasive prenatal DNA screening combined with nuchal translucency thickness measurement in the diagnosis of fetal chromosome aneuploidy.Methods:A total of 5 730 pregnant women who were screened for fetal chromosomal diseases in the Quzhou Maternal and Child Health Hospital from January 2017 to March 2019 were included in this study. All of them underwent noninvasive prenatal DNA screening and nuchal translucency thickness measurement. The results of amniocentesis were used as the gold standard to evaluate the diagnostic efficacy of noninvasive prenatal DNA screening, nuchal translucency thickness measurement and their combination.Results:Noninvasive prenatal DNA screening revealed that 64 (1.12%) women out of 5 730 pregnant women had high risk of developing chromosomal abnormalities. Ultrasound examination results showed that nuchal translucency was thickened in 140 (2.44%) women. The outcome of adverse pregnancy increased with the increase of nuchal translucency thickness. Among the 68 pregnant women who underwent amniocentesis, 51 women developed chromosomal abnormalities, with trisomy 21 syndrome being the majority (23/51,45.10%). The diagnostic efficacy of noninvasive prenatal DNA screening combined with nuchal translucency thickness measurement in the diagnosis of fetal chromosomal aneuploidy reached the ideal level.Conclusion:Noninvasive prenatal DNA screening combined with nuchal translucency thickness measurement has a high clinical application value. The combined method can be used as the main prenatal DNA screening method for pregnant women and it can effectively avoid the birth of children with chromosomal abnormalities.

The importance of gut microbes to human health has gradually attracted attention. With the use of animal models, it has been revealed that maternal microbes during pregnancy could influence their children's health outcomes through shaping their microbial composition and regulating the development of their metabolic and immune system. However, the physiological mechanism of the human body is more complex and is affected by the interaction of multiple factors. The research results obtained from animal models are often inconsistent with human studies. At present, the influence of maternal intestinal microbes during pregnancy on the microbial colonization in their offspring and on a series of children's health outcomes is still unclear. Establishing a sub-cohort to detect the microbiome of the women across pregnancy and of their offspring, and further to integrate with variety of environmental and behavioral exposures can better provide reliable support for the research on the mechanism of children's health and diseases. This paper briefly introduces the research objectives, content, progress, strength and limitations of the sub-cohort study.

C1q nephropathy is a special type of glomerulonephritis, which characterized by massive deposition of C1q on glomerular mesangial.The pathological manifestations of C1q nephropathy are minimal change disease, focal segmental glomerulosclerosis and proliferative glomerulonephritis.C1q nephropathy is prone to hormone dependence or resistance, and the prognosis is not good relatively.The pathogenesis of the disease is not clear.The clinical manifestations are quite different.Glucocorticoid is still the first choice for treatment.Immunosuppressive agents are often used in patients with hormone dependence or resistance.It has been found that the rituximab has good curative effect on C1q nephropathy in recent years.Although the understanding and research on C1q nephropathy is deepening, there is still much controversy about whether to classify C1q nephropathy into a class of independent diseases and the clinical significance of their classification.In this paper, the pathogenesis, pathological histology, clinical characteristics, treatment and prognosis of C1q nephropathy are reviewed in order to have a better understanding of C1q nephropathy.