Retinitis pigmentosa with iris coloboma due to miR-204 gene variant in a Chinese family.

PURPOSE: To characterize the phenotype and genotype of a Chinese family with autosomal-dominant retinitis pigmentosa (RP) accompanied by iris coloboma. METHODS: The proband, a 34-year-old male, was examined with his family by using fundus photography, optical coherence tomography (OCT), autofluorescence, and full-field electroretinography (ffERG). Genetic analyses were conducted through whole-exome sequencing (WES) to screen for variations. RESULTS: Three members of this Chinese family were shown to be bilateral iris coloboma. The male proband and his mother exhibited typical RP feature. The proband's late grandfather had been documented manifestation of iris coloboma. The mode of inheritance was confirmed to be autosomal dominance. Through linkage analysis and WES, a heterozygous variation in the miR-204 gene (n.37C>T), a noncoding RNA gene, was identified in these three members. CONCLUSIONS: In this third independent and the first Asian family, the existence of a miR-204 variant associated with RP accompanied by iris coloboma was confirmed. Our findings reinforce the significance of miR-204 as an important factor influencing visual function in the retina. When phenotypes like RP accompanied by iris coloboma in an autosomal-dominant pattern, including in Chinese patients, miR-204 aberrations should be considered.

Altered functional brain activity in first-episode major depressive disorder treated with electro-acupuncture: A resting-state functional magnetic resonance imaging study.

Background: Previous studies have found electroacupuncture could improve the clinical symptoms of first-episode major depressive disorder (MDD), but the exact neural mechanism of action needs to be further elucidated. Methods: Twenty-eight first-episode MDD patients were randomly divided into 14 electro-acupuncture stimulation (EAS) groups and 14 sham-acupuncture stimulation (SAS) groups, and clinical symptoms were assessed and functional magnetic resonance imaging (fMRI) scans were done in both groups. Amplitude of low-frequency fluctuations (ALFF) was used to observe the changes between the pre-treatment and post-treatment in the two groups, and the altered brain areas were selected as region of interest (ROI) to observe the FC changes. Meanwhile, the correlation between the altered clinical symptoms and the altered ALFF and FC of brain regions in the two groups was analyzed. Results: The EAS significantly decreased the HAMD-24 and HAMA-14 scores of MDD than SAS group. The imaging results revealed that both groups were able to increase the ALFF of the left middle temporal gyrus and the left cerebellar posterior lobe. When using the left middle temporal gyrus and the left posterior cerebellar lobe as ROIs, EAS group increased the FC between the left middle temporal gyrus with the left superior frontal gyrus, the left middle frontal gyrus, and the left hippocampus, and decreased the FC between the left posterior cerebellar lobe and the left calcarine gyrus, while SAS group only increased the FC between the left middle temporal gyrus with the left superior frontal gyrus. The alternations in clinical symptoms after EAS treatment were positively correlated with the altered ALFF values in the left middle temporal gyrus and the altered FC values in the left middle temporal gyrus and the left middle frontal gyrus. Conclusion: EA demonstrates modulation of functional activity in the default mode network (DMN), sensorimotor network (SMN), cognitive control network (CCN), limbic system, and visual network (VN) for the treatment of the first-episode MDD. Our findings contribute to the neuroimaging evidence for the efficacy of EAS.

New Model for Predicting Production Capacity of Horizontal Well Volume Fracturing in Tight Reservoirs.

Production prediction is the most important and comprehensive index to measure the effect of oilfield development, and it is also one of the most fundamental problems in oilfield dynamic analysis. However, the recovery prediction is often affected by many factors. Usually, the recovery is predicted by core experiments, numerical simulations, and mathematical models. The main problem is accurately predicting reservoir recovery based on existing data. This paper proposes a comprehensive prediction model for the problem of recovery. First, the correlation coefficients between 14 factors and recovery were calculated based on Pearson, Spearman, gray correlation, variance selection, univariate selection method, and tree model. Second, the weights of the factors were determined using entropy weighting, CRITIC, and hierarchical analysis to clarify the degree of contribution of different factors to the recovery. Finally, a comprehensive evaluation model was established based on the results of the weighting analysis. The results indicate that the correlation coefficient and weight of porosity, permeability, oil saturation, well spacing, cluster spacing, total fluid volume, and horizontal section length are the most relevant to the recovery. The error between the comprehensive evaluation model and the actual results is less than 3%. Therefore, the method can predict the production capacity of the tight reservoirs. The research results of this paper are of guiding significance for improving the recovery of tight reservoirs.

Zinc deficiency or genetic mutations?-A case report of hair heterochromia in the context of MC1R genetic mutations.

Hair heterochromia may be caused by different mechanisms. At clinical work, we found a Chinese boy whose hair colour gradually turned to red. We record the diagnosis and treatment process and follow-up situation, finally find that altered hair colour phenotype is due to MC1R genetic mutations, rather than zinc deficiency. This rarely red hair colour phenotype improve our understanding of hair heterochromia caused by genetic mutations.

Lithium carbonate revitalizes tumor-reactive CD8+ T cells by shunting lactic acid into mitochondria.

The steady flow of lactic acid (LA) from tumor cells to the extracellular space via the monocarboxylate transporter symport system suppresses antitumor T cell immunity. However, LA is a natural energy metabolite that can be oxidized in the mitochondria and could potentially stimulate T cells. Here we show that the lactate-lowering mood stabilizer lithium carbonate (LC) can inhibit LA-mediated CD8+ T cell immunosuppression. Cytoplasmic LA increased the pumping of protons into lysosomes. LC interfered with vacuolar ATPase to block lysosomal acidification and rescue lysosomal diacylglycerol-PKCθ signaling to facilitate monocarboxylate transporter 1 localization to mitochondrial membranes, thus transporting LA into the mitochondria as an energy source for CD8+ T cells. These findings indicate that targeting LA metabolism using LC could support cancer immunotherapy.

Decline in measured glomerular filtration rate is associated with simple renal cyst in Chinese patients with type 2 diabetes.

AIMS/INTRODUCTION: Simple renal cysts (SRC) are associated with age, hypertension and hyperuricemia, which are risk factors of renal impairment. This study aimed to investigate the prevalence of SRC and its association with measured glomerular filtration rate (mGFR) in patients with type 2 diabetes mellitus in China. METHODS: A total of 3,552 patients with type 2 diabetes mellitus admitted to Shanghai Sixth People's Hospital from January 2012 to December 2016 were investigated. All participants were diagnosed as SRC by color Doppler, and all participants were measured for GFR by using dynamic renal scintigraphy with technetium-99m-diethylene triamine peta-acetic acid. RESULTS: The prevalence of SRC was 17.4% (619 cases). Participants with SRC had significantly lower mGFR values than those without SRC (86.16 ± 26.20 vs 94.88 ± 23.98 mL/min/1.73 m2 , P < 0.001). In 478 participants with unilateral renal cyst, the mGFR of the kidney affected by SRC was significantly lower than that of the unaffected kidney (43.32 ± 13.74 vs 44.18 ± 13.34 mL/min/1.73 m2 , P = 0.014). The participants were divided into four groups according to the quartiles of mGFR level (≥109.50, 93.80-109.49, 76.90-93.79 and <76.90 mL/min/1.73 m2 ). The prevalence of SRC gradually increased with decreasing mGFR level (12.9, 13.9, 16.6 and 27.8%, respectively; P trend <0.01). After adjusting for age, sex, duration of diabetes, hypertension and other potential confounders, the logistic regression showed that SRC was an independent risk factor for impaired GFR (<60 mL/min/1.73 m2 ; odds ratio 1.656; 95% confidence interval 1.451-1.890, P < 0.001). CONCLUSION: SRC is an independent risk factor for the decrease of mGFR in Chinese diabetes patients, and could affect the renal GFR measured by dynamic renal scintigraphy on the SRC side.

Research on the status and risk factors of cognitive function among nursing home population in Changning District, Shanghai / 公共卫生与预防医学

Objective To investigate the prevalence and risk factors of cognitive impairment in the nursing home population in Changning District, Shanghai. Methods In this study, random cluster sampling method was used to select 570 elderly people from 5 nursing homes in Changning District. Multivariate logistic regression was used to analyze the risk factors influencing cognitive function. Results The total prevalence of cognitive impairment in Changning nursing home population was 22.5%. The prevalence rates of ≤80 and >80 age groups were 16.8% and 23.9%, respectively, and the prevalence rates of men and women were 19.2% and 23.9%, respectively. Multivariate analysis showed that age ≥ 80 years old (OR=1.839, 95% CI: 1.045~3.235), no habit of reading book or newspaper (OR=2.087, 95%CI: 1.282~3.398), limitation of daily activity ability (OR=1.577, 95% CI: 1.023~2.431), and having depressive symptoms (OR=2.809, 95% CI: 1.840~4.288) were all influencing factors for cognitive impairment. Conclusion More than one fifth of elderly people in nursing homes in Changning District have symptoms of cognitive impairment. It is necessary to carry out routine cognitive assessment and appropriate cognitive intervention for the nursing home population to reduce the health and economic losses caused by cognitive impairment.

Trueness of different digital design methods for incisal guidance of maxillary anterior implant-supported single crowns / 北京大学学报(医学版)

Objective:To compare the trueness of incisal guidance of implant-supported single crowns designed by patient-specific motion(PSM)with that designed by average-value virtual articulator(AVA).Methods:The study had recruited 12 participants with complete dentition and stable incisal guidance.An intraoral scanner was used to scan digital casts and record two types of patient-specific mo-tion(data only including protrusive movement,and data including protrusive movement and lateral pro-trusive movement).The lingual surfaces of the maxillary incisors which guided the protrusive movement was selected and elevated to create a reference cast.A maxillary central incisor of original casts was vir-tually extracted and implanted to generate a working cast.The Dental system software program was used to design implant-supported single crowns with the anatomical coping design method.The incisal guidance was designed by different methods.The incisal guidance in control group was designed by the average-value virtual articulator.The incisal guidance in experiment groups was designed by the patient-specific motion only including protrusive movement(PSM1)and with the patient-specific motion including protru-sive movement and lateral protrusive movement(PSM2).The incisal guidance of prosthesis designed by these 3 methods were compared with the original incisal guidance in Geomagic Control 2015(3DSystem,America).The measurements included:Average of positive values,ratio of positive area and maximum value reflecting supra-occlusion;average of negative values,ratio of negative area and minimum value re-flecting over-correction;and root mean square reflecting overall deviation.Results:Statistical data were collected using the median(interquartile range)method.The average of positive values,ratio of positive area and average of negative values of the PSM2 group were smaller than those of the control group[8.0(18.8)μm vs.37.5(47.5)μm;0vs.7.2％(38.1％);-109.0(63.8)μm vs.-66.5(64.5)μm],and the ratio of negative area of PSM2 group was larger than those of the control group[52.9％(47.8％)vs.17.3％(45.3％)],with significant differences(P all＜0.05).The ratio of positive area[0.1％(7.0％)]and average of negative values[-97.0(61.5)μm]of PSM1 group,were smaller than those of the control group,and the ratio of negative area[40.7％(39.2％)]of the PSM1 group was larger than that of the control group,with significant differences(P＜0.05).The average of positive values[20.0(42.0)μm]and ratio of positive area of PSM1 group was larger than that of the PSM2 group with significant differences(P＜0.05).Conclusion:To establish the incisor guidance of implant-supported single crowns,compared with the average-value virtual articulator and the patient-specific motion only including protrusive movement,the patient-specific motion including protrusive movement and lateral protrusive movement is more conducive to reducing the protrusive interference of prosthesis and improving the occlusal fit.

Study on the influencing factors of coronary artery lesions in patients with Kawasaki disease / 重庆医学

Objective To analyze the influencing factors of coronary artery lesions in patients with Ka-wasaki disease(KD)in Xinjiang.Methods A total of 1 500 KD patients who were treated in the First Affilia-ted Hospital of Xinjiang Medical University from December 2020 to December 2022 were selected as the re-search objects.According to whether coronary artery disease occurred,they were divided into two groups.886 patients with coronary artery lesions were included in the experimental group,and 614 patients without coro-nary artery lesions were included in the control group.Univariate and multivariate logistic regression analysis was used to analyze the risk factors of coronary artery lesions.Results The results of logistic regression anal-ysis showed that the duration of fever(＞10 d),high Gensini score,high level of N-terminal pro-brain natri-uretic peptide(NT-proBNP),C-reactive protein(CRP),total cholesterol(TC),low-density lipoprotein cho-lesterol(LDL-C)and triglycerides(TG)may be risk factors for coronary artery lesions(P＜0.05).Conclusion In clinical diagnosis and treatment,targeted intervention should be given as early as possible to prevent the occurrence of coronary artery lesions.

Relationship between serum GDF-15,chemerin,PTX3 levels and obesity,insulin resistance and inflammation in patients with type 2 diabetes mellitus and the construction and evaluation of their predictive efficacy / 国际检验医学杂志

Objective To explore the relationship between serum growth differentiation factor-15(GDF-15),chemerin,pentraxin 3(PTX3)levels and obesity,insulin resistance and inflammatory factors in patients with type 2 diabetes mellitus(T2DM),and to construct and evaluate the predictive efficacy.Methods A total of 231 T2DM patients admitted to the hospital from February 2020 to September 2022 were selected as T2DM group.Another 100 healthy subjects who came to the hospital for physical examination during the same period were selected as the control group.Serum GDF-15,chemerin and PTX3 levels of the two groups were detected and compared by enzyme-linked immunosorbent assay(ELISA).Clinical data of the two groups were collected and compared.Pearson correlation analysis and multiple linear regression were used to analyze the relationship between serum GDF-15,chemerin,PTX3 levels and obesity,insulin resistance and inflammation.Multivariate Logistic regression was used to evaluate the independent risk factors for T2DM development,and the com-bined prediction model of serum GDF-15,chemerin and PTX3 was constructed,and receiver operating charac-teristic(ROC)curve was plotted to evaluate its predictive efficacy for T2DM development.Results Compared with the control group,body mass index(BMI),waist-to-hip ratio(WHR),systolic blood pressure,total cho-lesterol,triglyceride,fasting blood glucose,fasting insulin(FINS),homeostasis model assessment of insulin re-sistance(HOMA-1R),interleukin(IL)-1β,IL-6,GDF-15,chemerin and PTX3 were all increased in T2DM group,and the differences were statistically significant(P＜0.05).Pearson correlation analysis showed that se-rum GDF-15,chemerin and PTX3 levels were positively correlated with BMI,WHR,FINS,HOMA-IR,IL-1βand IL-6 in T2DM group(P＜0.05).Multiple linear regression analysis showed that BMI,FINS,HOMA-IR,IL-1β and IL-6 were positively correlated with serum GDF-15,chemerin and PTX3 levels(P＜0.05).Multiva-riate Logistic regression analysis showed that the increase of serum GDF-15,chemerin and PTX3 levels was an independent risk factor for T2DM development(P＜0.05).ROC curve analysis results showed that the com-bined prediction model of serum GDF-15,chemerin and PTX3 had better prediction efficiency,and its area un-der the curve,sensitivity,specificity and accuracy were higher than those applied alone.Conclusion The levels of GDF-15,chemerin and PTX3 in serum of T2DM patients are elevated,and their levels increase with the ex-acerbation of obesity,insulin resistance and inflammatory response in T2DM patients.The combined predic-tion model constructed in this study has good predictive efficacy and has high predictive value for the occur-rence of T2DM.

Effect of visceral fat thickness on the difficulty of renal transplantation and postoperative complications / 国际外科学杂志

Objective:To investigate the effect of visceral fat thickness before operation on the operative difficulty and postoperative complications in renal transplantation recipients.Methods:A total of 179 patients diagnosed with end-stage renal disease who underwent kidney transplantation in Beijing Friendship Hospital, Capital Medical University from January 2020 to January 2022 were retrospectively included. According to the visceral fat thickness measured by CT before transplantation (distance from anterior wall of abdominal aorta to parietal peritoneum at 1 cm above umbilicus), patients were divided into two groups, with 103 patients in thin visceral fat group with visceral fat thickness ≤7.5 cm and 76 patients in thick visceral fat group with visceral fat thickness>7.5 cm. The epidemiological data before renal transplantation, operative time, intraoperative blood loss, postoperative complications, renal function after transplantation and patients′ recovery state were analyzed and compared between the two groups. Measurement data were expressed as mean±standard deviation ( ± s), and independent sample t-test was used for comparison between groups. The Chi-square test was used to compare the count data. Results:The mean age and body mass index of patients in thin visceral fat group [(38.70±11.50) years and (21.28±2.93) kg/m 2] were lower than those in thick visceral fat group [(43.14±11.42) years and (24.78±3.37) kg/m 2], and the differences were statistically significant ( P< 0.05). There was no significant difference in other preoperative epidemiological data between the two groups ( P>0.05). In terms of operation difficulty, the mean operation time of thin visceral fat group was (117.16±34.33) min, which was significantly shorter than that of thick visceral fat group (137.11±20.02) min. The mean intraoperative blood loss in the thin visceral fat group was (89.12±45.95) mL, which was lower than that in the thick visceral fat group (125.39±54.88) mL, the differences were statistically significant ( P<0.001). In terms of postoperative complications, 41 patients in the thin visceral fat group had postoperative infection, incision pain and intraoperative effusion, and the incidence was 39.8% (41/103), which was significantly lower than that in the thick visceral fat group (78.9%, 60/76), the difference was statistically significant ( P<0.001); However, there was no significant difference in the incidence of Clavien-Dindo grade 3 or higher complications between the two groups ( P> 0.05). There was no significant difference in serum creatinine levels at 3, 5, 7 days and 1, 2 months after surgery among patients with different visceral fat thickness ( P> 0.05). However, the mean serum creatinine level in the thin visceral fat group was (116.06±36.45) μmol/L, which was lower than that in the thick visceral fat group (133.35±72.26) μmol/L, and the difference was statistically significant ( P=0.038). There was no significant difference in the incidence of delayed renal function recovery between the two groups ( P> 0.05). At the same time, there was no significant difference in postoperative drainage tube indwelling time and hospital stay between the two groups ( P> 0.05). Conclusions:The thicker visceral fat in end-stage renal disease patients before transplantation, the higher the incidence of general postoperative complications, but the severity of complications, patients′ recovery after transplantation and the short-term function of the transplanted kidney are not significantly related to the thickness of visceral fat in the recipients. Meanwhile, although the visceral fat thickness of the recipients in this study was correlated with serum creatinine levels at 3 months after transplantation, its correlation with long-term graft renal function and graft survival time remains to be further studied.

Discussion on the substance basis and possible mechanism of Xiefei Lishui Prescription in the treatment of heart failure based on UPLC-Q-TOF-MS combined with network pharmacology / 国际中医中药杂志

Objective:To explore the effective components and potential mechanisms of Xiefei Lishui Prescription in the treatment of heart failure.Methods:Ultra high-performance liquid chromatography tandem four stage rod time of flight mass spectrometry (UPLC-Q-TOF-MS) technology was used to analyze and identify the active components of Xiefei Lishui Prescription. Drug targets were predicted through the Swiss Target Prediction database, and disease targets were collected from Gene Cards, Dis GENET, and TTD databases. The intersection of drug targets and disease targets was screened using a STRING database for protein interaction to identify core targets. The core targets were included in the DAVID database for GO enrichment and KEGG analysis. Finally, molecular docking validation was performed between the drug components and the corresponding core targets.Results:The results identified 10 active components of Xiefei Lishui Prescription, and 8 potential active components were screened using network pharmacology for the treatment of heart failure with Xiefei Lishui Prescription, corresponding to 160 related action targets. A total of 1 305 disease-related targets were collected, and a total of 51 targets ad 17 core targets were included in the string database for protein interaction analysis. GO functional enrichment and KEGG analysis indicated that the mechanism of Xiefei Lishui Prescription in treating heart failure may be related to pathways such as protein binding, ATP binding, and negative regulation of the VEGF signaling pathway and T cell receptor pathway during apoptosis. The molecular docking results showed that baicalin exhibited good binding activity with ESR1, sorghum isoflavones with ESR1, and quercetin with AKT1, EGFR, IL2, and ABCB1.Conclusion:Xiefei Lishui Prescription may exert therapeutic effects on heart failure through multiple pathways by targeting ESR1, AKT1, EGFR, and other targets.

Pathological diagnosis of systemic ALK negative anaplastic large cell lymphoma / 临床与实验病理学杂志

Purpose To investigate the clinical and patho-logical characteristics,molecular characteristics,treatment and prognosis of systemic ALK-negative anaplastic large cell lympho-ma(ALCL).Methods Retrospective analysis was conducted on the clinical pathology,immunophenotype,molecular charac-teristics,treatment and prognosis of 18 cases of systemic ALK-ALCL.HE,immunohistochemistry,FISH,and NGS tests were performed,and relevant literatures were reviewed.Results Systemic ALK-ALCL tended to occur in elderly men,often in the advanced stage,mainly in lymph node lesions.The extran-odal primary sites included the primary pancreas and primary thoracic vertebrae.Morphological examination showed 17 cases belong to common type,1 case belong to"Hodgkin like"type.CD30 was diffuse and strongly positive in tumor cells(＞75％),CD2(16/17),CD3(13/18),CD5(4/18),CD7(8/18),CD4(14/18),TIA-1(16/18),CD8(2/16),GATA-3(10/12),EMA(3/5),MUM1(12/12),CD43(6/6)and CD56(2/8)were positive to varying degrees.The Ki67 proliferation index of 30％to 90％,PD-L1(22C3)(TPS=0-100％),ALK,CD15,CD79α and CD20 were all negative.FISH detection:5 cases of TP63 deficiency and 2 cases of DUSP22 deficiency;NGS detection:16 cases of gene mutations occurred,with a fre-quency of 0-11 gene mutations and an average of 4.2 gene mu-tations;ALK-ALCL with TP63 rearrangement was more likely to occur in women,mostly in lymph nodes,late clinical staging,susceptibility to p53 gene abnormalities,low PD-L1 expression rate and high mortality rate.Conclusion Systemic ALK-ALCL with TP63 rearrangement is associated with many adverse factors,the clinical process is often invasive with poor progno-sis.

Study of resting-state functional MRI on immediate effect regulated by acupuncture on acupoints in patients with migraine without aura / 实用放射学杂志

Objective To explore the mechanism of immediate effect regulated by acupuncture on acupoints in patients with migraine without aura(MwoA)during the interictal period.Methods A total of 28 MwoA patients were enrolled and resting-state functional magnetic resonance imaging(rs-fMRI)were performed at baseline and after acupuncture for 30 minutes.Paired t test was used to compare the differences of regional homogeneity(ReHo)and voxel-mirrored homotopic connectivity(VMHC)between two groups.Additionally,the correlation between the changes of rs-fMRI indexes and clinical scores was analyzed.Results In MwoA patients after acupuncture for 30 minutes,the mean regional homogeneity(mReHo)was decreased in the right lingual gyrus and right cere-bellum and was increased in the right middle frontal gyrus,while the z transformation voxel-mirrored homotopic connectivity(zVMHC)was significantly decreased in the bilateral cuneus compared with baseline.There was no significant correlation between imaging data and clinical scales.Conclusion Patients with MwoA after acupuncture for 30 minutes show abnormal ReHo and VMHC in multiple brain regions,which suggest that the mechanism of immediate effect may act through regulating pain-related brain regions.

Research progress of anatomical subsegmentectomy and combined subsegmentectomy in the treatment of early non-small cell lung cancer / 沈阳医学院学报

Lung cancer is one of the malignant tumors with the highest mortality and the fastest growing incidence,which seriously threatens human life and health.With the popularization of low-dose spiral CT and the enhancement of public awareness of physical examination,more and more ground-glass nodules have been detected.Accumulating studies have shown that for patients with nodules diameter≤2 cm and ground-glass opacity≥50% ,under the condition of ensuring the cutting edge,thoracoscopic sublobectomy or subsegmentectomy can more effectively preserve the lung function of patients,and has gradually become the recommended surgical method.In recent years,with the continuous improvement of thoracoscopic surgery technology,thoracoscopic subsegmentectomy and combined subsegmentectomy have been gradually carried out.Compared with lobectomy and segmentectomy,subsegmental resection can retain more normal lung tissue and reduce the loss of lung function under the condition of ensuring the safe cutting edge.However,thoracoscopic subsegmental resection requires a higher level of surgical technique and anatomical knowledge for the operator,and is rarely reported in relevant literature.Therefore,this article reviews the progress of anatomical subsegmentectomy and combined subsegmentectomy in the treatment of early non-small cell lung cancer.

Experimental study on treatment of severe limb ischemia with Ad-hVEGF-hHGF gene / 实用医学杂志

Objective To explore the role and efficacy of VEGF and HGF gene adenovirus vector in promoting angiogenesis in ischemic tissue.Methods 84 Kunming mice were randomly divided into sham group,control group,VEGF group,HGF group and VEGF+HGF group,and the left lower limb ischemia model was established.The blood supply of ischemic tissue was observed by rheometer,and the expression levels of VEGF and HGF in each group were detected by Western Blot and ELISA.Immunohistochemical staining was used to detect angiogenesis(CD31,SMA)in ischemic tissues.Safety was assessed by side effects during treatment in mice.Results After the successful modeling,the blood flow velocity of the left lower limb in each group decreased significantly.On the 7th day after operation,the blood flow of the left lower limb in each group was significantly better than that on the 0th day after operation(P<0.05),and the blood flow of the left lower limb in Ad-VEGF-HGF group was significantly better than that in other groups(P<0.05).On the 28th day after operation,the blood flow of the left lower limb in Ad-VEGF-HGF group gradually stabilized,the blood flow in Ad-VEGF-HGF group was significantly better than that in other groups,and both VEGF group and HGF group were significantly better than the control group(P<0.05).On the 7th,14th,and 28th days following surgery,HGF and VEGF protein levels in the Ad-HGF,Ad-VEGF,and Ad-VEGF-HGF groups were substantially greater than those in the control group(P<0.05).The expression level in the Ad-VEGF-HGF group peaked on the 14th day(all P<0.001)and subsequently declined to preoperative levels on the 28th day after operation.Conclusion Ad-VEGF-HGF gene injection can effectively boost VEGF and HGF protein expression and rapidly reach the relative peak level,encour-aging angiogenesis after lower limb ischemia,increasing blood flow,and improving lower limb circulation.

A Pedigree Study of Hereditary Auditory Neuropathy with Optic Atrophy / 听力学及言语疾病杂志

Objective To investigate the genetic causes of auditory neuropathy with optic atrophy in a family.Methods The proband's medical history and family history were inquired in detail,and relevant clinical examina-tions were performed to confirm the diagnosis of auditory neuropathy with optic atrophy,and the genetic pedigree of the family was drawn.Peripheral blood of proband(Ⅲ-7)was collected for whole exome sequencing,and the patho-genicity of the detected mutations were interpreted.Blood samples of proband's wife(Ⅲ-8),eldest daughter(Ⅳ-7),second daughter(Ⅳ-9)and son(Ⅳ-10)were tested for mutation sites by Sanger sequencing.Combined with clinical manifestations and examination results,the family was studied.Results The genetic pattern of this family was autosomal dominant.The proband showed decreased visual acuity at the age of 19,bilateral sensorineural deaf-ness at the age of 30,and decreased speech recognition rate.Among 20 members of the family of 5 generations,10(2 deceased)showed similar symptoms of hearing and visual impairment.Proband(Ⅲ-7),eldest daughter(Ⅳ-7)and son(Ⅳ-10)underwent relevant examination.Pure tone audiometry showed bilateral sensorineural deafness.ABR showed no response bilaterally.The 40 Hz AERP showed no response in both ears.OAE showed responses in some or all of the frequencies.No stapedial reflex was detected.The eye movement of Ⅲ-7 and Ⅳ-10 were reasona-ble in all directions,and color vision was normal.Ocular papilla atrophy was observed in different degrees in fundus examination.OCT showed thinning of optic disc nerve fibers in both eyes,and visual evoked potential showed pro-longed P100 wave peak.They were diagnosed as hereditary auditory neuropathy with optic atrophy.A mutation of the OPA1 gene c.1334G＞A(p.Arg445His,NM_015560.2)at a pathogenic locus on chromosome 3 was detected by whole exon detection in Ⅲ-7.The results of generation sequencing analysis showed that the OPA1 gene c.1334G＞A(p.Arg445His,NM_015560.2)mutation of chromosome 3 was also found in Ⅳ-7 and Ⅳ-10.Meanwhile,the gen-otypes of Ⅲ-8 and Ⅳ-9 were wild homozygous,that is,no mutation occurred.Conclusion The OPA1 c.1334G＞A(p.Arg445His,NM_015560.2)mutation site might be the pathogenic mutation in this family.

Causal relationship between blood metabolites and sarcopenia-related traits:a Mendelian randomization study / 中国组织工程研究

BACKGROUND:Clinical evidences have suggested a correlation between metabolic factors and sarcopenia.Blood metabolites have been found as biological factors underlying the mechanisms of musculoskeletal disorders.However,the causal relationship between blood metabolites and sarcopenia is unclear. OBJECTIVE:To explore the causal relationship between blood metabolites and sarcopenia-related traits through a two-sample Mendelian randomization analysis and to analyze their metabolic pathways. METHODS:A dataset of 486 blood metabolites and sarcopenia-related traits was obtained from public databases.The inverse variance weighting,MR-Egger and weighted median methods were used to assess the causal relationship of blood metabolites with muscle mass and strength across genders.Sensitivity analyses,including heterogeneity and gene pleiotropy,were performed to explore the robustness of the results.Metabolic pathway analysis of potential causal relationships was performed using the Metaboanayst 5.0 tool. RESULTS AND CONCLUSION:A total of 124 metabolites and sarcopenia-related traits were observed to have potential causal relationships(P<0.05).Mannose and 1-arachidonoylglycerophosphocholine were significantly causally associated with an increased muscle mass in males(P<1.03×10-4).Pentadecanoate and glycine were significantly causally associated with decreased muscle mass and muscle strength in females,respectively(P<1.03×10-4).Metabolic pathway analysis identified eight metabolic pathways associated with altered levels of muscle mass and muscle strength in sarcopenia,including the"glyoxylate and dicarboxylate metabolism"and"Glycine,serine and threonine metabolism."The identified metabolites are considered as useful circulating metabolic biomarkers for screening and prevention of sarcopenia in clinical practice,serving as candidate molecules for future mechanistic exploration and drug target selection.

Interleukin-1beta enhances migration and adhesion of mesenchymal stem cells in inflammatory environments / 中国组织工程研究

BACKGROUND:Mesenchymal stem cells possess characteristics such as rapid renewal,targeted homing,tissue repair,and immune regulation,which provide potential for the treatment of inflammatory diseases.In most inflammatory diseases,interleukin-1β is highly expressed.Both exogenous and endogenous mesenchymal stem cells unavoidably exist in an environment with high interleukin-1β concentration. OBJECTIVE:To study the interaction of interleukin-1β with mesenchymal stem cells in inflammatory environment and the mechanism of its influence on the migration and adhesion of mesenchymal stem cells to provide a theoretical basis for adjusting stem cell therapy strategies. METHODS:The first author searched for studies involving interleukin-1β enhancing migration and adhesion of mesenchymal stem cells by computer on CNKI,WanFang,VIP,PubMed,and Web of Science using search terms"interleukin-1β,mesenchymal stem cell,nuclear factor-κB,MAPK,ERK,p38,migration,adhesion"in Chinese and English.The literature tracing method was also used to search for some of the literature.Finally,65 articles were included in the review analysis. RESULTS AND CONCLUSION:(1)In the inflammatory environment,interleukin-1β can regulate the migration and adhesion ability of mesenchymal stem cells.This effect may be achieved by recruiting IRAK1 through interleukin-1RI and then activating TAK1 and IKK in turn.After IKK phosphorylation,nuclear factor-κB and ERK signaling pathways are activated or CXCR expression is upregulated through the p38 pathway to promote mesenchymal stem cell migration and adhesion.However,further standardized research needs to be carried out based on the genetic background of mesenchymal stem cells,the dose and processing time of interleukin-1β.(2)In vitro experiments using pre-stimulated mesenchymal stem cells with interleukin-1β can change the survival environment of mesenchymal stem cells and alter their secretion factors to make them develop towards a more anti-inflammatory direction.On the other hand,under the premise of producing higher levels of anti-inflammatory and pro-nutrient factors,extracted mesenchymal stem cell exosomes can exert anti-inflammatory effects.(3)It has been observed in various animal disease models that pre-stimulating mesenchymal stem cells with interleukin-1β regulates their immune regulation ability,thereby affecting the development and outcome of inflammation.However,this is limited to preclinical basic research only;further verification on efficacy and safety of stem cell therapy with interleukin-1β pre-treated mesenchymal stem cells is required in clinical settings.

Practice and reflection of day surgery in a tertiary hospital in Tianjin / 现代医院

Objective To analyze the implementation of day surgery in a public hospital in Tianjin,and to provide refer-ence for the quantity and quality of day surgery.Methods The implementation of day surgery in a public hospital in Tianjin from 2020 to 2022 was analyzed.Results From 2020-2022,the main types of daytime operations were secondary(43 kinds)and ter-tiary operations(28 kinds).In terms of the implementation of professional disciplines,anorectal surgery,urology surgery and orthopedics carried out the largest number of operations,among which anorectal surgery accounted for 70.76％(2 285/3 229).Conclusion It is necessary to further improve the development of professional disciplines,the management system of day surger-y,and the guarantee of medical services,strengthen the construction of weak links in the management path of day surgery and im-prove the coverage and accessibility of day service.