Hereditary disease, especially monogenic disease is one of the major causes for malformation and disability of children. Most hereditary diseases have no effective therapy besides clinical symptomatic treatment. Biological techniques targeting casual genes or related signaling genes, such as transgenic, RNA interfere, genome editing, have been successfully applied in treating some hereditary diseases. However, most biological, treatments were carried out in animals, further confirmation of the effectiveness and safety of these therapies, and development of more therapeutic approaches based on mechanisms are needed before clinical trials.
Animals ; Biological Therapy ; Disease Models, Animal ; Genetic Diseases, Inborn ; therapy ; Genetic Therapy ; Humans

AIM:To investigate whether early endothelial progenitor cells (early-EPCs) expressβ2-adrenergic receptor (β2 AR) in the chronic obstructive pulmonary disease ( COPD) patients and the effect of β2 AR expression on the migration of early-EPCs.METHODS:Venous blood samples (20 mL) were obtained from antecubital vein of COPD pa-tients or healthy controls .Peripheral blood mononuclear cells were isolated by standard Ficoll gradient centrifugation , and purified by CD34 positive selection cocktail .The mRNA expression of β2 AR in the early-EPCs was detected by RT-PCR. The protein levels of β2 AR were assessed by Western blotting and flow cytometry .Chemotaxis was studied by Transwell as-say.Cultured early-EPCs were treated with ICI118551, norpinephrine (NE) or monoclonal antibody of β2AR (mAb-β2 AR) for 24 h.The number of migratory cells was counted under a light microscope .RESULTS:The level of β2 AR ex-pression in the COPD patients was higher than that in the controls .The number of migratory early-EPCs to stromal cell-de-rived factor 1αwas significantly improved by ICI 118551 compared with other COPD groups .When early-EPCs from the COPD patients or the controls were treated with different concentrations of mAb-β2 AR for 24 h, the number of migratory early-EPCs from the COPD patients and the controls treated with NE at concentration of 100 nmol/L was significantly re-duced.However, a marked decrease in the number of migratory early-EPCs from the COPD patients treated with NE was observed compared with control group .Before treated with ICI118551 or NE for 24 h, the early-EPCs were co-incubated with mAb-β2 AR for 40 min, and the number of migratory early-EPCs was not significantly different between COPD group and control group .Genetic down-regulation of β2 AR promoted the migration of early-EPCs in COPD group .CONCLU-SION:The level of β2 AR expression in the COPD patients is increased compared with the controls .The down-regulation ofβ2 AR improves the migration of early-EPCs.

Growth plate,the developmental center of endochondral osteogenesis,can be divided morphologically and functionally into a resting zone,a proliferative zone,a prehypertrophic zone and a hypertrophic zone.Injuries to growth plate often lead to bone growth defects including limb length discrepancy and angulation deformity in children.Currently,their orthopedic corrective surgeries are invasive and limitedly effective and no effective biotherapy has been available.Previous studies on animal models of growth plate damage have investigated the related cellular and molecular events in the repair of damaged growth plates in the 4 distinct inflammatory,fibrogenic,osteogenic and remodeling phases.Related molecules involved in the regulation of the above processes,such as inflammatory cytokines tumor necrosis factor alpha,mitogenic platelet-derived growth factor and bone morphogenetic protein,are found to participate in the regulation of growth plate injury.Exploration of the mechanisms may provide new targets for biotherapy.In addition,development of cartilage tissue engineering,especially application of mesenchymal stem cells,also provides potential interventions for growth plate injury.

Objective To develop the assessment scale of proactive health behavior ability for the disabled elderly in nursing homes and to test its reliability and validity.Methods The first draft of the scale was formed by literature review,qualitative interviews and Delphi method.From December 2023 to March 2024,525 disabled elderly people from 9 nursing homes in Sichuan Province and Chongqing City were selected as the survey subjects,and item analysis and reliability and validity test were carried out on the scale.30 disabled elderly people were re-investigated after 2 weeks to calculate the retest reliability of the scale.Results The scale consisted of 4 dimensions and 27 items.Exploratory factor analysis extracted 4 common factors,with the cumulative vanance contribution rate of 65.992％,and confirmatory factor analysis showed that the modified model fitting index was within acceptable range.The content validity index at item level was 0.917-1.000,and that at scale level was 0.997.The Cronbach's α coefficient,test-retest reliability and split-half reliability of the total scale were 0.944,0.997 and 0.882,respectively.Conclusion The scale has good reliability and validity,and it can be used to evaluate the proactive health behavior ability of the disabled elderly in nursing homes.