Objective:To observe the therapeutic effect of compound Duzhong Jiangu granule on Kashin-Beck disease (KBD), and to provide a new alternative for the treatment of patients with KBD.Methods:According to the principle of random distribution, patients with KBD diagnosed clinically in Linyou County and Yongshou County of Shaanxi Province who meet the inclusion criteria were divided into a traditional Chinese medicine group and a Western medicine group, and they were treated with compound Duzhong Jiangu granule (Chinese medicine group) and ibuprofen sustained release capsule + 21 jinvita + chondroitin sulfate (Western medicine group), respectively, for a duration of one month. Questionnaire survey was conducted to collect the clinical data of all survey respondents before and after medication by using the Joint Dysfunction Index Scale and the Western Ontario and McMaster Universities Arthritis Index (WOMAC) scales, for evaluation and analysis. The incidence of adverse reactions of the two groups were recorded.Results:A total of 218 KBD patients that met the inclusion criteria were selected, including 167 patients in the Chinese medicine group and 51 patients in the Western medicine group. There were 94 males and 73 females in the Chinese medicine group, aged (62.93 ± 6.72) years. In the Western medicine group, there were 18 males and 33 females, aged (63.29 ± 7.02) years. There was no statistically significant difference in age between the two groups ( Z = - 0.24, P = 0.813). After taking the compound Duzhong Jiangu granules for treatment of KBD patients in the traditional Chinese medicine group, there were significant changes in the number of patients with joint rest pain, joint movement pain, morning stiffness, maximum walking distance and lower limb mobility in the Joint Dysfunction Scale compared to before treatment. The difference between before and after medication was statistically significant (χ 2 = 37.93, 29.64, 50.40, 13.57, 25.25, P < 0.001). After 1 month of medication, there were 13 cases of significant effect, 64 cases of effectiveness, and 90 cases of ineffectiveness in the traditional Chinese medicine group, with a total effective rate of 46.11%. There were 0 cases of significant improvement, 13 cases of effectiveness, and 38 cases of ineffectiveness in the Western medicine group, with a total effective rate of 25.49%. The difference in total effective rates between the two groups was statistically significant (χ 2 = 8.62, P = 0.013). In addition, there was a statistically significant difference in the improvement of lower limb mobility (difficulty of daily activities) between the Chinese medicine group and the Western medicine group (χ 2 = 8.21, P = 0.017). After taking medication, the joint pain, stiffness, and difficulty of daily activities scores in the WOMAC scale of KBD patients in the Chinese medicine group and the Western medicine group were significantly reduced. The differences in scores before and after medication were statistically significant (Chinese medicine group, Z = - 7.60, - 7.74, - 9.75, P < 0.001; Western medicine group, Z = - 5.20, - 3.81, - 3.93, P < 0.001). There was a significant differences in the improvement degree of daily activity difficulty and total score between the Chinese medicine group and the Western medicine group ( Z = - 3.75, - 3.34, P < 0.01). During the medication period, the incidence of adverse reactions in the traditional Chinese medicine group was lower than that in the western medicine group (Chinese medicine group, 29.34%; Western medicine group, 45.09%, χ 2 = 4.38, P = 0.036). Conclusions:Compound Duzhong Jiangu granule has a good therapeutic effects on KBD, significantly improving joint dysfunction of patients. It has advantages in improving the activity ability of KBD patients and reducing the difficulty of daily activities, and has less adverse reactions else.

Objective To describe the distribution characteristics of knee and ankle joint range of motion and muscle atrophy related indexes in patients with Kashin-Beck disease(KBD)in Shaanxi Province so as to explore the correlation of knee and ankle joint range of motion(ROM)with muscle atrophy indexes and provide reference for clinical characteristics analysis of KBD patients.Methods To investigate the registered KBD patients from KBD areas in Shaanxi Province,we measured the general demographic data of the patients were collected and the ROM of the knee joint(flexion and extension),the ankle joint(dorsiflexion and plantar flexion),and the muscle atrophy related indexes such as the upper arm circumference,thigh circumference,calf circumference and grip strength.According to the population characteristics,i.e.,gender,age,body mass index(BMI)and KBD grade,the median and quartile of joint ROM and muscle atrophy of KBD patients were reported,and then the differences in each index among different groups were analyzed.Partial correlation analysis was used to explore the correlation between indicators after controlling for variables such as gender,age and BMI.Results A total of 480 patients with KBD were investigated in this study,who consisted of 249(51.9％)males and 231(48.1％)females,with an average age of(63.10±7.32)years and an average BMI of(23.49±8.90)kg/m2.The knee flexion ROM,knee extension ROM,ankle dorsiflexion ROM and ankle plantar flexion ROM were[105.0(95.0,120.0)]°,[0.0(-15.0,0.0)]°,[5.0(0.0,15.0)]° and[20.0(15.0,30.0)]°,respectively,in KBD patients in Shaanxi Province.The left thigh circumference,right thigh circumference,left calf circumference,right calf circumference,and upper arm circumference were[43.0(40.0,47.0)]cm,[43.0(39.0,47.0)]cm,[29.0(27.0,32.0)]cm,[29.5(27.0,32.0)]cm,[27.0(25.0,30.0)]cm,respectively.The left hand grip strength and right hand grip strength were[13.4(9.5,18.4)]kg and[13.9(9.8,18.2)]kg,respectively.With the increase of age,the extension range of the left and right knee joints of KBD patients showed a decreasing trend(H=31.499,31.847;all P＜0.001).The range of motion of bilateral knee flexion was higher in the normal BMI group than in the overweight or obese group,with statistically significant differences(H=7.753,12.333;P=0.021,0.002).The knee flexion,thigh circumference,and calf circumference of the left and right sides showed a decreasing trend under different KBD grades(H=14.345,17.256,8.000,8.462,8.558,9.633;all P＜0.05).Correlation analysis showed that knee flexion ROM was positively correlated with thigh circumference,calf circumference,and grip strength in patients with KBD(all P＜0.05).There was a positive correlation between knee extension ROM and thigh circumference in patients with KBD(P＜0.01).Conclusion The impaired joint ROM and muscle atrophy are serious in KBD patients in Shaanxi Province,and there is a correlation between joint motion and muscle atrophy.

Mitochondria are the main site of energy metabolism in cardiomyocytes， and at the same time mediate apoptosis and immune response， so mitochondrial dysfunction is closely related to the development of heart failure. Combined with the pathogenesis of mitochondrial dysfunction and heart failure， it is proposed that the mitochondrial function is similar to "sweat pore - collaterals - zang and fu organs"， according to which the treatment of heart failure is based on the theory of "sweat pore - collaterals - zang and fu organs". It is believed that the core mechanism of heart failure is qi deficiency， and qi deficiency leads to the weakness of the sweat pore opening and closing， or even the sweat pore closure， then resulting in qi deficiency and blood stasis， collaterals stagnation fail to flourish， and qi， blood， and body fluids can not infiltrate and nourish zang-fu organs， so that the heart fail to be nourished， and the disease will develop. The treatment should be based on the method of boosting qi and opening sweat pore， using acridity to unblock the collaterals， and invigorating blood and draining water， with medicinal of boosting qi， invigorating blood， and draining water as treatment.

OBJECTIVE: To explore the genetic etiology of two patients with developmental delay and intellectual disability. METHODS: Two children who were respectively admitted to Henan Provincial People's Hospital on August 29, 2021 and August 5, 2019 were selected as the study subjects. Clinical data were collected, and array comparative genomic hybridization (aCGH) was carried out on the children and their parents for the detection of chromosomal microduplication/microdeletions. RESULTS: Patient 1 was a 2-year-and-10-month female and patient 2 was a 3-year-old female. Both children had featured developmental delay, intellectual disability, and abnormal findings on cranial MRI. aCGH revealed that patient 1 has harbored arr[hg19] 6q14.2q15(84621837_90815662)×1, a 6.19 Mb deletion at 6q14.2q15, which encompassed ZNF292, the pathogenic gene for Autosomal dominant intellectual developmental disorder 64. Patient 2 has harbored arr[hg19] 22q13.31q13.33(46294326_51178264)×1, a 4.88 Mb deletion at 22q13.31q13.33 encompassing the SHANK3 gene, haploinsufficiency of which can lead to Phelan-McDermid syndrome. Both deletions were classified as pathogenic CNVs based on the guidelines of American College of Medical Genetics and Genomics (ACMG) and were not found in their parents. CONCLUSION The 6q14.2q15 deletion and 22q13-31q13.33 deletion probably underlay the developmental delay and intellectual disability in the two children, respectively. Haploinsufficiency of the ZNF292 gene may account for the key clinical features of the 6q14.2q15 deletion.
Humans ; Child ; Female ; Child, Preschool ; Intellectual Disability/genetics* ; Comparative Genomic Hybridization ; Chromosome Disorders/genetics* ; Chromosome Deletion ; Magnetic Resonance Imaging ; Chromosomes, Human, Pair 22 ; Developmental Disabilities/genetics* ; Carrier Proteins/genetics* ; Nerve Tissue Proteins/genetics*

Oxidative Phosphorylation ; Acetylglucosamine ; Uridine Diphosphate N-Acetylglucosamine/metabolism*

To construct TeI3c/4c-based and temperature-inducible gene inactivation system (Thermotargetron) and to apply it to gene inactivation of mesophilic bacteria. The subunit of flagellum (fliC) and C4 dicarboxylate orotate:H⁺ symporter (dctA) genes were chosen as targets in the genome of Escherichia coli HMS174 (DE3) strain. According to recognition roles of TeI3c/4c intron, the fliC489a, fliC828s, fliC1038s and dctA2a sites were chosen as target sites. Gene-targeting plasmids were constructed based on pHK-TT1A by using overlap PCR method and transformed into HMS174 cells. An aliquot mid-log phase cultures of the transformants were shocked at 48 °C and plated on LB plate (containing chloramphenicol). Afterwards, gene mutants were screened by using colony PCR and DNA sequencing. After the mutants were obtained, the phenotypes of ΔfliC and ΔdctA gene mutants were characterized by using agar puncture and carbon metabolism experiments. Colony PCR and sequencing results show that TeI3c/4c intron was inserted in the designed sites of fliC and dctA genes. The gene-targeting efficiency of Thermotargetron system was 100%. Phenotype verification experiments of the mutants demonstrated that the cell motility of all ΔfliC mutants was damaged and the malate assimilation ability of ΔdctA mutant was deprived comparing to wild-type HMS174 strain. In our study, a temperature-inducible and high-efficiency gene inactivation system was established for mesophilic bacteria. This system could achieve high efficiency and precise gene inactivation by modulation of the incubation duration of the transformants at 48 °C.

β-defensin is a primary protein immune factor in channel catfish's (Ietalurus punetaus) resistance to pathogenic microorganisms. Its primary structure contains a signal peptide composed of 24 amino acid residues at the N-terminal and a mature peptide composed of 43 amino acid residues at the C-terminal. The mature peptide region is responsible for the biological activity of β-defensin. In the present study, a recombinant strain of Pichia pastoris that produces channel catfish β-defensin, was constructed to realize the biosynthesis of channel catfish β-defensin based on eukaryotic expression. First, the β-defensin gene "IPBD" was isolated from the skin of channel catfish by RT-PCR. After linking it with the expression vector pPICZA, pPICZA-IPBD was transferred into competent P. pastoris X-33 cells to obtain recombinant P. pastoris strains. The yeast transformants with multi-copy gene inserts were obtained by using the culture medium containing 1 000 μg/mL zeocin. Using BMM culture medium (without amino nitrogen culture medium) instead of BMMY culture medium (with amino nitrogen culture medium), the fermentation and culture conditions of the recombinant strain were optimized, and the optimal conditions for producing channel catfish β-defensin were determined as follows: the expression was induced for 96 h with 1.0% methanol at 28 °C , 250 r/min. Purified protein with molecular weight of 5.98 kDa was obtained by nickel affinity chromatography, and MALDI-TOF/TOF mass spectrometry proved that it was the expected recombinant IPBD. The antibacterial test results showed that the inhibitory rates of recombinant IPBD on Gram-positive Staphylococcus aureus and Listeria monocytogenes and Gram-negative Pseudomonas aeruginosa were 69.6%, 71.6% and 65.8%, respectively. This study provides a recombinant DNA technique for the development of small molecule natural antibacterial peptide from fish.

Objective:Real-time cell-based assay (RTCA) technology was used to detect the influence of compound Danshen tablets with different concentrations on cells to screen outthe sensitive, stable and concentration-dependent cell lines to provide reference for the quality evaluation experiment of cell biological effects of compound salvia miltiorrhiza tablets. Methods:The effects of compound Danshen tablets on human umbilical vein endothelial cells (Huvec), rat cardiac myocytes (H9C2) and rat thoracic aortic smooth muscle cells (RA-VSMC) were investigated by RTCA. The cell index (CI) was measured to form time-dose dependent cell response curves (TCRPs) to screen the the optimal cell lines by description analysis and statistical analysis. Results:All of the three cells show obvious response to the effects of compound Danshen tablets. The sensitivity of RA-VSMC was relatively poor, the range of effective concentrationof three cells was different, and the concentration gradient dependence was also different. H9c2 cells had good sensitivity to compound Danshen tablets, which was gradient dependent, and the effective concentration range wass 0.3-1.8 mg/ml, and it can be used as a cell for quality evaluation of compound Danshen tablets. Conclusions:RTCA technology can monitor and record the growth status of cells in real time. It can accurately reflect the effects of compound Danshen tablets on different cell lines. The data are objective and reliable. It provides a new experimental technology and method for the quality evaluation of compound Danshen tablets.

Objective To study the significance of leptin and its receptor(OB-R) in the occurrence and development of pulmonary arterial hypertension(PAH) induced by monocrotaline(MCT).Methods Fifteen SD rats were divided into the control group(n=5) and two experimental groups(n=10).The experimental groups were intraperitoneally injected by MCT for constructing the PAH model and the control group was injected by the same dose of solvent groups.The venous blood was extracted at 2,4 weeks after MCT injection in the two experimental groups.The mean pulmonary artery pressure(mPAP) and right ventricular hypertrophy index(RVHI) were measured and then the lung tissue was removed.The pathological change of lung blood vessels was observed.The expression of serum leptin was detected by ELISA.The expression of OB-R in lung tissue was tested by Western blot.Results Compared with the control group,mPAP and RVHI in the experimental groups were significantly increased(P＜0.05);the expression levels of serum leptin and lung tissue OB-R were increased significantly(P＜0.05),moreover,which were positively correlated with mPAP(r=0.912,P＜0.05;r=0.861,P＜0.05).Conclusion Leptin and OB-R may play an important role in the occurrence and development of PAH induced by MCT.

Objective To explore the value of retrievable inferior vena cava (IVC) filter placement for prevention of perioperative pulmonary embolism (PE) in patients with lower extremity/pelvic fracture with deep vein thrombosis (DVT).Methods Clinical data of 1 891 lower extremity/pelvic fracture patients combined with DVT were retrospectively analyzed.Totally 411 patients with permanent filters were excluded,and the other patients were divided into filter group (n=843) and control group (n=637) according to whether receiving retrievable IVC filter placement or not.The incidence of perioperative symptomatic PE and mortality were compared between the two groups.Results In filter group,Optease nonpermanent filters were inserted in 218 patients,and the mean indwelling time was (14.3±3.6) days.Celcet filters were inserted in 625 patients,and the filters were successfully removed in 566 out of 578 patients who underwent filter removal surgery (97.92％,566/578),and the mean indwelling time was (15.8±4.1) days.The incidence of PE in filter group (0.12％[1/843]) was significantly lower than that in control group (1.57％ [10/637],P＜0.05).Among the patients who received chemical anticoagulant therapy,the incidence of PE in filter group and control group was 0.14 ％ (1/700) and 1.47％(9/612),respectively (P＜0.05).Conclusion Retrievable IVC filter placement is a safe and effective method for preventing perioperative symptomatic and fatal PE in lower extremity/pelvic fracture patients with DVT.