OBJECTIVE: To explore the genetic characteristics of a child with Focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS). METHODS: A child with FSGSNEDS who had visited Shengli Oilfield Central Hospital on September 15, 2019 was selected as the study subject. Clinical data of the child was collected, and trio-whole exome sequencing (trio-WES), Sanger sequencing, chromosomal karyotyping analysis, and copy number variation sequencing (CNV-seq) were used to analyze the child and his parents. RESULTS: The child, a 3-year-old boy, had manifested developmental delay, nephrotic syndrome, and epilepsy. Trio-WES and Sanger sequencing showed that he has carried a heterozygous c.1375C＞T (p.Q459*) variant of the TRIM8 gene, for which both his parents were of the wild type. Based on guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic. No abnormality was found in the chromosomal karyotyping and CNV-seq results of the child and his parents. CONCLUSION The child was diagnosed with FSGSNEDS, for which the c.1375C＞T variant of the TRIM8 gene may be accountable.
Male ; Humans ; Child ; Child, Preschool ; DNA Copy Number Variations ; Glomerulosclerosis, Focal Segmental/genetics* ; Genomics ; Heterozygote ; Karyotyping ; Carrier Proteins ; Nerve Tissue Proteins

Objective:Continuous glucose monitoring (CGM) technology is used to compare the advantages of insulin degludec (IDeg) as a basal insulin regimen compared with insulin glargine (IGlar) in the treatment of adult type 1 diabetes mellitus.Methods:30 adult patients with T1DM admitted to Heji Hospital Affiliated to Changzhi Medical College from September 2019 to December 2020 were screened. According to the random number table method, the patients were randomly divided into two groups (insulin degludec group and insulin glargine group) at a ratio of 1∶1, respectively treated with IDeg, IGlar and aspartate insulin for 12 weeks. The main outcome measures were the coefficient of variation of blood glucose (CV), mean amplitude of glycemic excursions (MAGE), time in range (TIR), time above range (TAR) and time below range (TBR). The secondary outcome measures were mean blood glucose (MBG), standard deviation of blood glucose (SD), fasting blood glucose (FPG), 2 h postprandial blood glucose (2 h BG), hemoglobin A1c (HbA 1c), means of daily differences (MOOD), and the frequency of hypoglycemic events. Results:At 12 weeks of treatment, the HbA 1c, FPG, 2 h BG, MBG, SD, CV and MAGE of insulin degludec group were lower than those of insulin glargine group, with statistically significant difference (all P<0.05). The TIR in the insulin degludec group was significantly higher than that in the insulin glargine group [73(63, 75)% vs 43(28, 63)%, P<0.001], and the TAR was lower than that in the glycerine group [25(17, 23)% vs 35(33, 64)%, P=0.003]. From the curve spectrum of blood glucose level of the two groups, the stability of blood glucose in the insulin degludec group was better than that in the insulin glargine group. After 12 weeks of treatment, 8 cases (8/15) in insulin degludec group had HbA 1c<7.0%, and 4 cases (4/15) in insulin glargine group had HbA 1c<7.0%, without statistically significant difference ( P=0.264). There were 7 cases (7/15) in the insulin degludec group and 1 case (1/15) in the insulin glargine group who achieved high quality blood glucose control, with statistically significant difference ( P=0.035). At the 12th week of outpatient follow-up, the incidence of nocturnal hypoglycemic events in insulin degludec group was significantly lower than that in insulin glargine group (4/15 vs 11/15, P=0.027). Conclusions:Compared with insulin glargine, insulin degludec can achieve higher blood glucose compliance rate, lower blood glucose level and reduce blood glucose fluctuations in patients with type 1 diabetes.

Background: At present, clinical dilemma remains to be solved in terms of therapy-choices for specific locally advanced cervical cancer (LACC) patients: 1) Although concurrent chemoradiotherapy (CCRT) is recommended as the first choice for them, many patients, influenced by the Chinese culture, prefer to choose radical surgery (RS) as their primary treatment. The difference between the 2 therapies in improving patient prognosis is still unknown. 2) Laparoscopy has been questioned since the noted Laparoscopic Approach to Cervical Cancer trial. Nevertheless, clinical research on laparoscopic surgery under the strict tumor-free principle is still underway globally, therefore whether laparoscopic surgery can be used for specific LACC is also an urgent issue to be explored. Methods A multi-center, randomized controlled study is designed to investigate the effect of different treatment strategies on the prognosis and quality of life (QoL) in patients with specific locally LACC. A total of 402 patients will be enrolled over a period of 3 years. Eligible patients will be randomized (3:1) to either RS group or CCRT group. Patients assigned to RS group will be randomized (1:2) to the abdominal RS group or laparoscopic RS group. All patients will then be followed-up for 5 years. The primary end point is the 2-year progression-free survival (PFS). The secondary end points include 5-year PFS, 2-year overall survival (OS), 5-year OS, adverse events caused by RS or CCRT and QoL.

A survey on professional knowledge levels was conducted from April to October 2019 among 388 general practitioners (GPs) from 46 community health service centers and 30 township health centers of 6 provinces selected by stratified random sampling method. The overall knowledge test score was 31.82—84.09(56.94±9.19) points, and the pass rate was 36.3% (141/388). There were significant differences in test scores among participants with different types of work units, regions, provinces, marital status, educational background, professional titles, types of employment, length of service, and training status (all P<0.05). Multivariate regression analysis showed that educational background ( B=-2.835), professional title ( B=-8.867), and participation in professional course training ( B=2.214) were the influencing factors of knowledge level (all P<0.05). The pass rates in knowledge of prevention/health management (13.7%, 53/388) and policies and regulations (12.1%, 47/388) were low. The results show that the levels of professional knowledge among GPs working in grassroots health institutions are relatively low, and suggest that continuing education should be strengthened to improve the professional knowledge level of GPs in primary care institutions, particularly, knowledge of health policies and regulations, disease prevention and health management.

Artificial intelligence has been widely used in diabetes care. This article reviews summarizes the research of artificial intelligence in diabetes care from the theoretical basis of artificial intelligence intervention, intervention mode and influence on patients in order to provide reference for future clinical research in diabetes care.

Objective To evaluate the clinical application effect of a specific antibody detection kit for human echinococcosis (hydatidosis kit),and provide technical support for further optimization of the production process of hydatidosis kit.Methods Using the method of retrospective investigation,1 481 patients with hydatidosis and 1 055 no-hydatidosis patients who were diagnosed by operation,pathology (gold standard) and hydatidosis kit in First Affiliated Hospital of Xinjiang Medical University,from 2012 to 2016 were selected.The clinical data was analyzed.The diagnostic performance of the kit was evaluated.The stepwise discriminant analysis method was applied to construct discriminant analysis function and establish a diagnostic model for echinococcosis.The detection efficiency of four antigens in hydatidosis kit was analyzed.Results A total of 2 536 patients [1 275 males,1 261 females,aged (41.62 ± 18.43) years old] were investigated,with the highest proportion in the 30-59 age group (1 489cases).Liver was the main organ affected by echinococcosis.The sensitivity,specificity and consistency of the hydatidosis kit were 94.80％ (1 404/1 481),71.00％ (749/1 055),and 84.90％ (2 153/2 536),Yoden index was 0.66 and Kappa value was 0.68.The stepwise discriminant analysis function Y =0.777X1 + 0.258X2 + 0.241X3-1.575 was constructed by the stepwise discriminant analysis method.There was no significant difference between the consistency of stepwise discriminant analysis model and the current diagnostic criteria (85.73％ vs 84.90％,x2 =0.694,P ＞ 0.05).The consistency of differential diagnosis between vesicular and cystic echinococcosis was 76.07％ (1 068/1 404).There was no significant difference in the detection efficacy between Echinococcus granulosus cystic fluid antigen (EgCF) and hydatidosis kit (P ＞ 0.05).Conclusions The diagnosis and differential diagnosis efficiency of hydatidosis kit is high.It is suitable for clinical diagnosis and field epidemiological investigation of echinococcosis in hospitals at all levels.EgCF can be used as the antigen of echinococcosis monoantigen strip,and can be applied in the epidemiological investigation of echinococcosis.

Objective: To explore the effect of Teach-back health education model on health education for patients after percutaneous coronary intervention (PCI). Methods: Eighty patients after PCI operation in cardiology were selected, 40 patients selected from February to March as control group and 40 patients selected from April to May as observation group according to the time of admission in 2018. The control group used the routine health education method, based on this, the observation group used the "Teach-back" health education model to healthy educate patients. Three months after the intervention, the results of body mass index (BMI), triglycerides, total cholesterol, low-density lipoprotein, Seattle angina questionnaire (SAQ), and Morisky questionnaire were evaluated. Results: After 3 months of intervention, the triglyceride, total cholesterol, and low-density lipoprotein in the observation group were (1.35±0.43), (3.99±0.57), and (2.32±0.24) mmol/L, which were lower than the control group (1.63±0.38), (4.31±0.73), (2.61±0.28) mmol/L, the difference between the two groups was statistically significant (t=3.082, 2.717, 5.048, P<0.01 or 0.05). After 3 months of intervention, evaluate the SAQ score of the observation group, the degree of physical limitation, the stability of angina pectoris, the degree of angina pectoris, the satisfaction of treatment, and the disease cognition were respectively (76.16±5.03), (88.75±14.92), and (84.25±12.17), (84.76±5.11), (82.79±9.64) points, which were higher than the control group (68.94±9.80), (80.63±17.44), (76.25±12.34), (70.80±7.00), (70.50±13.85) points, the differences were statistically significant (t=-4.145, Z=-5.848--2.166, P < 0.05). After 3 months of intervention, the Morisky questionnaires of the observation group and the control group were (2.43±0.78) and (3.80±0.41) points, and the difference was statistically significant (Z=-6.848, P<0.05). Conclusion The application of Teach-back health education model to patients after PCI has a good effect.

Objective To investigate the protective mechanism of MEK1/2 inhibitor PD98059 on ox-LDL induced injury of human umbilical vein endothelial cells (HUVEC),and its influence on the expression of LOX-1.Methods HUVEC damage models were established by using ox-LDL and were treated with PD98059 later,divided into the negative control group,the ox-LDL group,the positive control group and the PD98059+ox-LDL group.The effect of inhibition of MEK1/2 on ox-LDL induced HUVEC damage was measured.Results Compared with the negative control group,the levels in the ox-LDL group of LOX-1,pMEK1/2,RhoA,ROCK1,ROCK2,TNF-α and IL-6 were increased significantly,the proliferations of HUVEC and the productions of NO were decreased (P＜0.05).Compared with the ox-LDL group,the levels in the positive control group and the PD98059+ox-LDL group of pMEK1/2,RhoA,ROCK1,ROCK2,TNF-α and IL-6 were decreased,the proliferation of HUVEC and the production of NO were increased (P＜0.05).Conclusion PD98059 inhibit the MEK1/2 signaling pathway to suppress the ox-LDL induced damage of HUVEC by decreasing the expression of LOX-1.

Objective To establish a simple animal model of cough variant asthma(CVA)through sensitizing Brown-Norway(BN)rats with ovalbumin(OVA). Methods A total of 36 BN rats were randomly divided into three groups, including the normal control group,the model control group and the montelukast group. BN rats in the model group and the montelukast group were intraperitoneally administered with 2.0 mg of OVA and 100 mg of Al(OH)3,and the same volume of sterile saline was given to the normal group by intraperitoneal injection. Boosting was carried out by intraperitoneal administration with 0.01 mg of OVA and 100 mg of Al(OH)33 weeks later,and the rats in the normal group were injected with the same dose of physiological saline. Three weeks later,the actively sensitized BN rats were challenged with aerosolized OVA for 7 times on alternative days,and the rats in the normal group were treated with sterile saline instead of OVA. At the same time, the montelukast group was given 1.3 mg/kg of montelukast 30 minutes before atomization by intragastric administration once a day for 2 weeks,and the normal group and the model group were given the same volume of water. The tests of cough sensitivity to capsaicin and bronchial responsiveness were performed 24 h after the last administration. Results Compared with the normal group, the times of coughing(P< 0.01)and the lung resistance(RL)(P< 0.05)in the model group were significantly increased,while the lung compliance(Cdyn)was significantly decreased(P< 0.05). There was a significant difference(P < 0.05)in the times of coughing caused by capsaicin between the model group and the montelukast group. Compared with the model group,RLin the montelukast group was decreased significantly(P< 0.05), and Cdynwas increased significantly(P< 0.05). Conclusions This rat model of CVA is similar to a variety of clinical features of CVA and is easy to operate. Thus it can be used as an effective animal model of CVA.

Objective To investigate the roles of SENP1 in regulation of biological characteristics of NK cells.Methods Lentivirus-mediated-Senp1-small-hairpinRNA (shRNA) transduction was applied to NK92 cells.The expression of SENP1 in NK92 cells was determined by real-time PCR and Western blot.The proliferation of NK92 cells was detected by CCK-8 assay.The apoptosis of NK92 cells was determined by Annexin Ⅴ and PI labeling.The cytotoxicity of NK92 cells against K562 cells was evaluated by luciferase reporter assay.Results Treatment of NK92 cells with IL-21 resulted in SENP1 upregulation.Lentivirus mediated SENP1 knockdown reduced proliferation and increased apoptosis in NK-92 cells,but SENP1 inhibition had slight impact on the cytotoxic ability of NK92 cells to kill K562 cells.Conclusion SENP1 mediates the regulatory effect of IL-21 on the proliferation and survival of NK92 cells.