Objective To investigate renal expression level of STING in mice with renal ischemia-reperfusion injury(IRI)and its regulatory role in IRI.Methods C57BL/6 mice were divided into sham operation group,IRI(induced by clamping the renal artery)model group,IRI+DMSO treatment group,and IRI+SN-011 treatment group.Serum creatinine and blood urea nitrogen of the mice were analyzed,and pathological changes in the renal tissue were assessed with PAS staining.RT-qPCR,ELISA,Western blotting,and immunohistochemistry were used to detect the expression levels of STING,KIM-1,Bcl-2,Bax,caspase-3,TLR4,P65,NLRP3,caspase-1,CD68,MPO,IL-1β,IL-6,and TNF-α in the renal tissues.In the cell experiment,HK-2 cells exposed to hypoxia-reoxygenation(H/R)were treated with DMSO or SN-011,and cellular STING expression levels and cell apoptosis were analyzed using RT-qPCR,Western blotting or flow cytometry.Results In C57BL/6 mice,renal IRI induced obvious renal tissue damage,elevation of serum creatinine and blood urea nitrogen levels and renal expression levels of KIM-1,STING,TLR4,P65,NLRP3,caspase-1,caspase-3,Bax,CD68,MPO,IL-1β,IL-6,and TNF-α,and reduction of Bcl-2 expression level.Treatment of the mouse models with SN-011 for inhibiting STING expression significantly alleviated these changes.In HK-2 cells,H/R exposure caused significant elevation of cellular STING expression and obviously increased cell apoptosis rate,which was significantly lowered by treatment with SN-011.Conclusion Renal STING expression is elevated in mice with renal IRI to exacerbate renal injury by regulating the TLR4/NF-κB/NLRP3 pathway and promoting inflammation and apoptosis in the renal tissues.

Objective To investigate renal expression level of STING in mice with renal ischemia-reperfusion injury(IRI)and its regulatory role in IRI.Methods C57BL/6 mice were divided into sham operation group,IRI(induced by clamping the renal artery)model group,IRI+DMSO treatment group,and IRI+SN-011 treatment group.Serum creatinine and blood urea nitrogen of the mice were analyzed,and pathological changes in the renal tissue were assessed with PAS staining.RT-qPCR,ELISA,Western blotting,and immunohistochemistry were used to detect the expression levels of STING,KIM-1,Bcl-2,Bax,caspase-3,TLR4,P65,NLRP3,caspase-1,CD68,MPO,IL-1β,IL-6,and TNF-α in the renal tissues.In the cell experiment,HK-2 cells exposed to hypoxia-reoxygenation(H/R)were treated with DMSO or SN-011,and cellular STING expression levels and cell apoptosis were analyzed using RT-qPCR,Western blotting or flow cytometry.Results In C57BL/6 mice,renal IRI induced obvious renal tissue damage,elevation of serum creatinine and blood urea nitrogen levels and renal expression levels of KIM-1,STING,TLR4,P65,NLRP3,caspase-1,caspase-3,Bax,CD68,MPO,IL-1β,IL-6,and TNF-α,and reduction of Bcl-2 expression level.Treatment of the mouse models with SN-011 for inhibiting STING expression significantly alleviated these changes.In HK-2 cells,H/R exposure caused significant elevation of cellular STING expression and obviously increased cell apoptosis rate,which was significantly lowered by treatment with SN-011.Conclusion Renal STING expression is elevated in mice with renal IRI to exacerbate renal injury by regulating the TLR4/NF-κB/NLRP3 pathway and promoting inflammation and apoptosis in the renal tissues.

OBJECTIVE: To explore the clinical characteristics and genetic basis for a child with X-linked lissencephaly with abnormal genitalia (XLAG). METHODS: A child with XLAG who had presented at the Third Affiliated Hospital of Zhengzhou University in May 2021 was selected as the study subject. Peripheral blood samples of the child and his parents were collected and subjected to high-throughput sequencing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the result was analyzed by using bioinformatic software. RESULTS: The child was found to have harbored a hemizygous c.945_948del variant in exon 2 of the ARX gene, which as a frameshifting variant has resulted in a truncated protein. His mother was found to be heterozygous for the variant, whilst his father was of wild type. The variant was unreported previously. CONCLUSION The hemizygous c.945_948del variant of the ARX gene probably underlay the XLAG in this patient. Above finding has provided a basis for the diagnosis and genetic counseling for this family.
Humans ; Child ; Classical Lissencephalies and Subcortical Band Heterotopias ; Exons ; Computational Biology ; Genetic Counseling ; Genitalia ; Transcription Factors ; Homeodomain Proteins

Objective:To summarize the clinical manifestations of a case of combined oxidative phosphorylation deficiency 28 (COXPD-28) caused by the mutations of the SLC25A26 gene, thus providing references for the diagnosis and genetic counseling of the disease. Methods:Clinical data of a case of COXPD-28 treated in the Third Affiliated Hospital of Zhengzhou University in October 2020 were retrospectively analyzed.In addition, The retrieval words " Combined oxidative phosphorylation deficiency 28, SLC25A26 gene" were used to search domestic and foreign databases.The clinical characteristics of combined phosphorylation deficiency 28 and the variation characteristics of SLC25A26 gene were summarized. Results:(1) A female patient full-term delivered after 30 min presented with groaning breath was admitted.Her main manifestations included pale complexion, groaning breathing, metabolic acidosis, and high lactate and pyruvate levels.Symptomatic support treatment like anti-infection and assisted ventilation were given, but her condition gradually worsened and died of respiratory and circulatory failure on the day of admission.The child was compound heterozygous mutation of SLC25A26 gene, the terminating mutation of exon 5 c. 403G>T caused the protein change to p. E135, and the non-synonymous mutation of exon 4 c. 212A>G caused the protein change to p. Y71C.(2) A total of 3 cases of COXPD-28 were searched in online databases, and no cases were reported in China.Through literature review, clinical features of COXPD-28 mainly included respiratory and circulatory fai-lure, elevations of lactate and pyruvate, and reductions of complexes Ⅰ, Ⅲ and Ⅳ in muscle biopsy.Two types of mutations in the SLC25A26 gene were detected, including 3 cases of missense mutations and 1 case of splicing mutation. Conclusions:COXPD-28 is an autosomal recessive genetic disease involving multiple systems and mitochondrial dysfunction.Mutations in the SLC25A26 gene is the pathological cause of COXPD-28.

Objective:To evaluate the clinical efficacy and safety of a skin care ointment containing oligomeric maltose X in the adjuvant treatment of eczema-related pruritus.Methods:A multicenter, randomized, double-blind, vehicle-controlled clinical study was conducted. From March to September 2021, outpatients with mild to moderate eczema were collected from departments of dermatology of 4 hospitals, including Beijing Friendship Hospital, Hebei Traditional Chinese Medical Hospital, the Third People′s Hospital of Hubei Province, and Taizhou Central Hospital in Zhejiang Province. The patients were randomly divided into two groups by using a random number table: observation group topically treated with a skin care ointment containing oligomeric maltose X, and vehicle control group topically treated with an ointment vehicle. The ointments were applied during the attacks of itching for 14 consecutive days. Visits were scheduled before, 7, and 14 days after the start of the adjuvant treatment. The efficacy was evaluated according to the eczema area and severity index (EASI) and visual analog scale (VAS) , and adverse events were recorded. The efficacy and safety analyses were conducted by using chi-square test and t test. Results:Totally, 232 patients with eczema were enrolled, including 90 males and 142 females, with the age being 40.13 ± 13.36 years; 156 patients were in the observation group, and 76 in the vehicle control group. Before the adjuvant treatment, there were no significant differences in EASI (2.07 ± 2.24 points vs. 2.29 ± 2.28 points) or VAS (6.22 ± 1.78 points vs. 6.20 ± 1.79 points) scores between the observation group and vehicle control group ( t = -0.70, 0.06, P = 0.486, 0.955, respectively) . After one-day treatment, the VAS scores significantly decreased compared with the baseline scores in the two groups ( P < 0.001, P = 0.003, respectively) . After 14-day treatment, the VAS score was significantly lower in the observation group (2.67 points) than in the vehicle control group (3.35 points; t = -2.28, P = 0.024) . After 7- and 14-day treatment, the EASI scores significantly decreased compared with the baseline scores in both the two groups (all P < 0.001) , but there were no significant differences between the two groups ( P = 0.853, 0.731) . No adjuvant treatment-related adverse events were recorded in either of the two groups. Conclusion:The skin care ointment containing oligomeric maltose X is safe and effective in the adjuvant treatment of eczema-related pruritus, and can be applied to clinical practice.

Objective: To investigate the clinical effects of immediate nipple reconstruction with a local mastectomy flap in secondary breast reconstruction by deep inferior epigastric artery perforator (DIEP) flap. Methods: A free bipedicle DIEP flap was raised and folded upward to form the breast. Meanwhile, a deepithelialized lower mastectomy flap with a distant skin paddle was elevated and pulled throughout the reconstructed breast. The skin paddle was carefully sutured to the position of future nipple. Three weeks later, the pedicle of mastectomy flap was divided, and the paddle was modeled to form the new nipple. Results: From February 2011 to June 2016, 42 patients who had previously undergone unilateral modified mastectomies underwent the breast reconstructions and immediate nipple reconstructions. All flaps survived postoperatively. The average projection of the reconstructed nipple was measured as (16.3±2.4) mm immediately after the operation and gradually decreased to (8.4±1.3) mm by one year follow up. 35 patients ranked the aesthetic appearance of the reconstructed nipple and breast very good or good. Conclusions The immediate nipple reconstruction with a local mastectomy flap and breast reconstruction by DIEP flap could achieve a good breast shape and maintain a long term residual nipple projection, which results in considerable patient satisfaction.

Objective To observe the recent effect and safety of minimally invasive transurethral double pole plasma-prostatectomy (PKEP) for the treatment of the benign prostatic hyperplasia (BPH). Methods One hundred and twenty-six patients with BPH were selected by parallel group design, and divided into two groups by piecewise equilibrium stochastic method. Sixty-three patients in the control group were treated with transurethral prostate electrotomy (TURP). The study group of 63 patients was treated with PKEP. Weight, operation time, intraoperative bleeding and complications of the patients were recorded. Three months after surgery, the maximum urine flow rate (Qmax), residual urine volume (PVP), international prostate symptom score(IPSS)and quality of life score(QOL)was used to evaluate the improvement of symptoms. Results The average operation time, postoperative hospital stay, time placing a urinary catheter in study group was shorter than that in the control group(50.2 ± 8.5)min vs (62.4 ± 10.3)min,(5.0 ± 0.7)d vs.(6.4 ± 1.2)d,(38.4 ± 2.7)h vs.(80.5 ± 6.9)h,intraoperative blood loss was less than that in the control group, (62.4 ± 13.7)ml vs.(91.6 ± 23.5)ml,and removing tissue volume was better than that in the control group (53.4 ± 5.9) g vs. (39.6 ± 7.2) g. Differences were statistically significant (P < 0.05). After surgery, the PVP significantly reduced, Qmaxincreased significantly, the IPSS and QOL scores significantly reduced, and the differences were statistically significant(P<0.05). However, there was no significant difference between PVP, Qmax, IPSS and QOL in the two groups(P>0.05).The incidence of postoperative complications in the study was 30.16%(19/63), significantly lower than that of the control group(46.03%,29/63), and the difference was statistically significant(P<0.05). Conclusions PKEP is better than TURP in the treatment of large volume BPH of old age, and PKEP is safer than TURP.

Objective To evaluate the effect of retention time of urokinase on hematoma dissipation in the treatment of severe ventricular hemorrhage by lateral ventricle drainage. Methods The clinical data of 62 patients with severe ventricular hemorrhage and having received bilateral ventriculostomy were retrospectively analyzed. These patients was divided into 3 groups according to the retention time of urokinase: A group (20 patients, retention time 1 h), B group (22 patients, retention time 2 h) , and C group (20 patients , retention time 3 h).The number of patients with complete hematoma dissipation at different time in each group were compared. Results At 5-6 d, 7-9 d and 10-12 d after operation, the number of hematoma dissipation in A group was 2, 5, 13 cases, in B group was 5, 13, 4 cases, and in C g group was 3, 13, 4 cases. The number of hematoma dissipation patients in three groups had significant difference (P=0.008), the number of hematoma dissipation patients between A group and B group, and between A group and C group had significant differences (P=0.005, 0.012), but there was no significant difference between B group and C group (P=0.621). The complication rate in three groups had no significant difference (χ2=2.540, P=0.281). Conclusions The 2 h retention time of urokinase is more suitable for the patients with severe ventricular hemorrhage who underwent external drainage.

Objective The evaluate action of serum L-arginine levels for predicting development of pregnant women with PIH,and analyze its effectiveness as clinical predictor.Methods Collecting 186 patients was performed a retrospective study.The PIH pregnant women was the experiment group,and the health pregnant women was the control group.In order to analyse the effect,the levels of L-arginine were measured in the early,middle and late period of pregnant women.Compared with the serum L-arginine in different groups with x2-test and t-test based on data type.Results Experimental group and control group subjects in age (x2 =2.426,P=0.119;t=1.218,P=0.229) and smoking before pregnancy (x2 =2.088,P=2.088),there was no significant differences,but the two groups of patients with BMI (x2 =8.772,P=0.003) and parity (x2 =6.083,P=0.014) was statistically.In different stages of pregnancy,the concentration of serum L-arginine had no statistical differences,and in the concentration of umbilical cord blood,serum L-arginine also had no statistical difference.There was a statistical differences in the serum L-arginine concentration of the cord blood for different number of pregnancies,but the concentrations of L-arginine in cord blood and in serum L-arginine.There were no significant difference in age,BMI and smoking pregnant.According to ROC curve analysis,for the diagnostic of concentration in serum L-arginine and in umbilical cord blood,the results indicate low efficiency to the diagnosis of pregnancy hypertension during pregnancy.Conclusion L-arginine level and the development of PIH and body mass index and maternal correlation for the pregnant women.Because the sample size limitations,L-arginine in the diagnosis of PIH also needs to be further research to determine the effectiveness of predicting.

Objective To investigate the effects of small interfering RNA (siRNA) silencing Nanog gene on the ability of migration and invasion of the human lung adenocarcinoma A549 cells. Methods The human lung adenocarcinoma A549 cells were transfected with siRNA targeting Nanog gene , and three experiment groups were set up. The expression level of Nanog was detected using reverse transcription polymerase chain reaction (RT-PCR) and Western blot analysis. Cell migration was examined by wound healing assay and cell invasion was detected by Transwell assay. Results The Nanog silencing cell group (A549-siNanog) showed much lower level of Nanog mRNA and protein (0.40 ± 0.06, 0.50 ± 0.03) than A549-siNC cell group (0.97 ± 0.03, 0.85 ± 0.02; P < 0.05) under RT-PCR and Western blot analysis. Meanwhile, the wounded area filled rate and the number of invaded cells of A549-siNanog cell group (57% ± 0.04, 69.60 ± 17.14) were decreased significantly compared to A549-siNC cell group (95% ± 0.02, 209.60 ± 15.40; P < 0.05). Conclusion siRNA targeting human Nanog could specially suppress the expression of Nanog gene in lung adenocarcinoma A549 cells. In this way, it couldsignificantly reduce the capability of migration and invasion of A549 cells.