BACKGROUND:The development of tissues and organs in the body is a precise and autonomously regulated process,and the function of biomechanical factors at this macroscale is a basic scientific question worth exploring. OBJECTIVE:To investigate the roles of cell mechanics in morphogenesis of the lobular organoid of 3D Madin-Darby canine kidney(MDCK). METHODS:The formation of MDCK lobular organoid was visualized by fluorescence resonance energy transfer technology,and the influence of different cellular mechanical signals and extracellular matrix environment on lobular organoid formation and corresponding changes in extracellular regulated protein kinases(ERK)activity were examined. RESULTS AND CONCLUSION:(1)Inhibition of ERK signaling pathway can inhibit the growth of MDCK lobular organoid.(2)Inhibition of cell contractile force signals such as ROCK pathway and Myosin Ⅱ activity,reduced ERK activity and lobular organoid size.(3)Selective inhibition of calcium channels in plasma membrane and endoplasmic reticulum led to reduced ERK activity and lobular organoid growth.(4)By inhibiting the mechanically-sensitive receptor Piezo ion channel or integrin signal on the cell membrane,the lobular organoid became smaller or MDCK cells could not generate tissue morphology.(5)Extracellular matrix compositions affected the morphogenesis of lobular organoid.The addition of type I collagen in Matrigel changed the lobular organoid to elongated shape.(6)The results of this study preliminarily show that mechanical signals in the cells and extracellular matrix environment play an important role in culturing MDCK lobular organoid,and provides certain molecular mechanisms.

Objective:To explore any effect of intermittent theta burst stimulation (iTBS) and of different sequencing of rehabilitation training on upper limb dysfunction after a stroke.Methods:Thirty-six patients with upper limb motor dysfunction after subacute subcortical cerebral infarction were divided at random into a control group, an experimental group 1, and an experimental group 2, each of 12. The control group was given prosthetic stimulation and upper limb function rehabilitation training. Experimental group l received focal iTBS stimulation on M1 immediately followed by upper limb rehabilitation training. Experimental group 2 received the same treatment but in reverse order. The experiment lasted four weeks. Upper limb functioning and ability in the activities of daily living (ADL) were quantified before and after the interventions using the Fugl-Meyer upper extremity assessment (FMA-UE) and the modified Barthel index (MBI). Cortical latency (CL) was also recorded.Results:Before the treatment there were no significant differences among the three groups, but afterward a significant increase was observed in the average FMA-UE and MBI scores of both experimental groups accompanied by a significant decrease in CL. There was no significant difference between the two experimental groups′ results, on average.Conclusion:Supplementing upper limb rehabilitation training with iTBS can significantly improve the upper limb functioning of ischemic stroke survivors, and the sequencing of the training has no effect on the therapeutic results.

Objective:To assess the effectiveness of a 6-month Ba Duan Jin exercise program in improving the balance of community-dwelling older adults.Methods:A two arms, parallel-group, cluster randomized controlled trial was conducted in 1 028 community residents aged 60-80 years in 40 communities in 5 provinces of China. Participants in the intervention group (20 communities, 523 people) received Ba Duan Jin exercise 5 days/week, 1 hour/day for 6 months, and three times of falls prevention health education, and the control group (20 communities, 505 people) received falls prevention health education same as the intervention group. The Berg balance scale (BBS) score was the leading outcome indicator, and the secondary outcome indicators included the length of time of standing on one foot (with eyes open and closed), standing in a tandem stance (with eyes open and closed), the closed circle test, and the timed up to test.Results:A total of 1 028 participants were included in the final analysis, including 731 women (71.11%) and 297 men (28.89%), and the age was (69.87±5.67) years. After the 3-month intervention, compared with the baseline data, the BBS score of the intervention group was significantly higher than the control group by 3.05 (95% CI: 2.23-3.88) points ( P<0.001). After the 6-month intervention, compared with the baseline data, the BBS score of the intervention group was significantly higher than the control group by 4.70 (95% CI: 4.03-5.37) points ( P<0.001). Ba Duan Jin showed significant improvement ( P<0.05) in all secondary outcomes after 6 months of exercise in the intervention group compared with the control group. Conclusions:This study showed that Ba Duan Jin exercise can improve balance in community-dwelling older adults aged 60-80. The longer the exercise time, the better the improvement.

Objective To analyze the distribution characteristics of abnormal karyotypes of fetal sex chromosome aneuploidy(SCA)and pregnancy outcomes in 101 fetal cases.Methods A retrospective study was conducted among 7 821 pregnant women who underwent successfully prenatal karyotyping diagnosis at Guangxi Zhuang Autonomous Region People's Hospital from January 2016 to December 2021.All women received amniotic fluid cell culture karyotype analysis and copy number variation sequencing(CNV-seq)detection and 101 cases of SCA detected were analyzed.Results A total of 101 cases were detected by SCA,with a detection rate of 1.29％.Among them,Klinefelter syndrome accounted for 33.66％,superestrogenism syndrome accounted for 17.82％,superandrogenic syndrome accounted for 12.87％,turner syndrome accounted for 10.89％,other aneuploidy abnormalities[including 48,XXXY:1 case;69,XXY(80％)/68,XXY,-22(20％):1 case]accounted for 1.98％,and chimerism accounted for 22.77％.The prenatal indications for 101 cases of SCA were as follows:age ≥ 35 years,high/critical risk of serum biochemical screening,fetal ultrasound abnormalities,abnormalities in non-invasive prenatal testing(NIPT),history of adverse pregnancy and childbirth and other reasons(1 case of cerebral palsy in pregnant women and 4 cases of bilateral thalassemia)accounted for 53.47％(54/101),4.95％(5/101),17.82％(18/101),51.49％(52/101),12.87％(13/101),4.95％(5/101),respectively.Partial cases had multiple prenatal diagnostic indications.Meanwhile,23 fetuses diagnosed with sex chromosome chimerism,of which 22 cases were validated by karyotype and CNV seq,11 pregnant women chose to terminate their pregnancy,with the rest chose to continue pregnancy.Conclusion The combination of prenatal karyotype diagnosis,serological testing,prenatal ultrasound and other prenatal screening methods can help improve the detection rate of SCA,while CNV-seq can provide more clinical evidence for genetic counseling of pregnant women with sex chromosome chimerism.

Objective:To detect gene mutations in a pedigree with dominant dystrophic epidermolysis bullosa (DDEB) .Methods:A 20-year-old male proband presented with repeated blisters, ulceration, pigmentation, scars on the limbs, and deformation of the nails/toenails after birth. There were 5 patients in the 3-generation family, and they all presented with typical skin lesions. Peripheral blood samples were obtained from 14 members of the pedigree (including the 5 patients) and 100 unrelated healthy controls. Whole-exome sequencing was performed in the proband to identify relevant mutation sites, which were then confirmed in the family by Sanger sequencing.Results:Genetic testing indicated that the proband and the other 4 patients all carried a missense mutation (c.7885G>A) in exon 107 of the COL7A1 gene, resulting in the substitution of glycine by arginine at amino acid position 2629 (p.G2629R). The mutation was identified neither in the 9 healthy relatives nor in the 100 unrelated healthy controls. The mutation co-segregated with DDEB in the family, and was not included in databases such as Pubmed, HGMD or ClinVar, suggesting it was a novel missense mutation. The amino acid encoded by this mutation may alter the structure of type Ⅶ collagen, thereby affecting its function.Conclusion:A novel missense mutation was identified in exon 107 of the COL7A1 gene in the family with DDEB, expanding the spectrum of mutations in the COL7A1 gene.

Objective To systematically analyze the World Health Organization Rehabilitation Competency Framework (RCF) theoretical framework, methodology and its application in the field of rehabilitation.Methods We systematically analyzed RCF conceptual framework and key characteristics, and discussed how to apply the RCF in the fields of human resource planning, education program and curriculum system, and vocational competency standards and certification criteria for rehabilitation human resources.Results The RCF encompasses five domains, naming practice, professionalism, learning and development, management and leadership, and research. Rehabilitation professionals' performance is the result of the interaction of their core values and beliefs, competencies, activities, knowledge, and skills. The RCF can be used to plan rehabilitation human resources, establish competency-based rehabilitation education programs and curriculum systems, and develop competency certification standards and licensure accreditation standards.Conclusion This study analyzed background, content and implementation framework of RCF, and systematically discussed the theories and methods related to how to use the RCF to construct national rehabilitation human resources development plans, develop rehabilitation education programs and curriculum systems based on the RCF, and establish certification and assessment standards for rehabilitation human resources.

Objective:To investigate whether SKA1 is a key molecule regulating malignant proliferation of liver cancer, and further explore its mechanism to provide molecular theoretical basis for subsequent targeted therapy.Methods:The data of liver cancer from TCGA database were analyzed by bioinformatics technology. The expression of SKA1 in liver cancer was analyzed. At the same time, we also analyzed the relationship between the expression of SKA1 and the prognosis of patients with liver cancer. The hepatoma cell line overexpressing SKA1 was constructed by liposome-mediated cell transfection technique, and the effect of SKA1 on the proliferation of hepatoma cells was further tested by CCK-8 and plate cloning assay. At the same time, we found that E2F1 is also highly expressed in liver cancer, using bioinformatics technology to analyze the correlation between SKA1 and E2F1 expression, further detecting the binding site of E2F1 in the SKA1 promoter region, and using dual luciferase technology to detect E2F1 against SKA1. Transcriptional activation.Results:KA1 was highly expressed in liver cancer tissues, and the overall survival rate of liver cancer patients with high SKA1 expression was 49.8%, lower than that of patients with low SKA1 expression, showing a negative correlation. E2F1 is also highly expressed in liver cancer tissues, and the survival time of patients with liver cancer with high E2F1 expression is significantly lower than that in the low expression group, which was negatively correlated with poor prognosis. SKA1 overexpression could increase the proliferation ability of liver cancer cells by nearly 50%. SKA1 is regulated by the E2F1 transcription factor, and the E2F1 transcription factor is combined with the SKA1 promoter to transcriptionally activate the expression of SKA1 in liver cancer cells.Conclusion:E2F1 transcriptional activation of SKA1 promotes proliferation of hepatoma cells, leading to poor prognosis in patients with liver cancer

Objective To investigate the clinical manifestations,imaging features and prognosis of mixed liver cancer.Methods The clinical and pathological data of 26 patients with combined hepatocellular carcinoma and cholangiocarcinoma (cHCC-CC) pathologically diagnosed after liver resection were retrospectively analyzed,and the relevant factors affecting the prognosis were statistically analyzed.Results Of the 26 cHCC-CC patients,19 were on background of chronic viral hepatitis,including 17 chronic viral hepatitis B and 2 chronic viral hepatitis C.There were 18 cases having AFP≥20ng/ml,9 cases were with carbohydrate antigen 199 (CA199) ≥ 37U/ml,and 5 cases with carcinoembryonic antigen (CEA) ≥5ng/ml.The 1-,3-,and 5-year postoperative survival rates were 68.8％,34.4％,and 17.4％.Multivariate analysis showed that serum CA199≥37U/ ml(x2 =5.687,P =0.019) was an independent risk factor for patients' survival.Conclusion Most cHCC-CC is found in association with chronic viral hepatitis.Serum CA199 ≥37U/ml is an independent risk factor affecting patients survival.

Carrying out standardized diagnosis, treatment, intervention, management, surveillance and evaluation of COPD is an important part of the special action for the prevention and treatment of chronic respiratory diseases in the "Healthy China Initiative (2019-2030)" . The surveillance of COPD among Chinese residents provides basic data for assessing the level of standardized diagnosis, treatment, intervention and management of patients with COPD. Based the data of all COPD patients found in the surveillance of COPD (2014-2015), the key series articles report the awareness rate of COPD among patients aged ≥40 years in China, and analyze the spirometry examination rate, medicine treatment rate, inhalation therapy rate, respiratory rehabilitation rate, smoking cessation rate, successful smoking cessation rate, and pneumococcal vaccination rate in COPD patients aged ≥ 40 years and their associated factors, providing a scientific reference for China to carry out special action for the prevention and treatment of chronic respiratory diseases represented by COPD.

Objective To investigate the status of the readiness for hospital discharge and pain degree in inpatients with thoracolumbar osteoporotic fractures, and the correlation between them.Methods A cross-sectional analysis of survey data from a sample of 252 patients with thoracolumbar osteoporotic fractures was conducted in a grade A tertiary hospital in Xi′an from January 1st, 2016 to June 30th, 2016. The status of the readiness for hospital discharge and pain level were investigated through the Readiness for Hospital Discharge Scale and Numerical Rating Scale (NRS) respectively. Pearson correlation coefficient method was used to detect the correlation between the two target factors. Results The average score of readiness for hospital discharge was 7.71±1.55. The mean NRS score decreased from 7.8 ± 0.8 at baseline to 2.7 ± 0.6 before discharge. The scores of each dimensions of readiness for hospital discharge from high to low were expected support, personal status, and coping capacity. There was a negative correlation between discharge readiness and pain degree in patients with thoracolumbar osteoporotic fractures (r =-0.537, P<0.05). Conclusions The status of the readiness for hospital discharge among the patients with thoracolumbar osteoporotic fractures is in a medium to high level before discharge. The pain degree is significantly decreased to a lower level. There is a negative correlation between the readiness for hospital discharge and the pain degree.