Objective:To explore the clinical phenotype and genetic etiology for a Chinese pedigree affected with Autosomal dominant polycystic kidney disease (ADPKD).Methods:A pedigree with ADPKD diagnosed at the Department of Gynaecology of the First Affiliated Hospital of Zhengzhou University in December 2020 was selected as the study subject. Clinical data of the pedigree was collected, and whole exome sequencing (WES) was carried out for the proband. Candidate variants were verified by Sanger sequencing of the proband and her relatives. This study was approved by the First Affiliated Hospital of Zhengzhou University (Ethics No. KS-2018-KY-36).Results:Fetal ultrasonography showed increased volume and parenchymal echogenicity in both kidneys. The fetus was found to harbor c. 11098C>T (p.R3700C) and c.11039T>C (p.F3680S) compound heterozygous variants of the PKD1 gene, which were respectively inherited from its mother and father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be likely pathogenic (PM1+ PM2_Supporting+ PP3). Conclusion:The c. 11098C>T (p.R3700C) and c. 11039T>C (p.F3680S) compound heterozygous variants of the PKD1 gene probably underlay the ADPKD in the fetus. Above finding has provided guidance for the genetic counseling and prenatal diagnosis for this pedigree.

Objective:To retrieve, evaluate, and summarize the evidence on fertility management for cervical cancer patients of childbearing age, providing a basis for clinical medical and nursing staff to carry out fertility management for cervical cancer patients.Methods:The evidence on fertility in cervical cancer patients included clinical decision-making, guidelines, summary of evidence, expert consensus, and systematic review, which were systematically searched on domestic and international evidence-based medicine databases, clinical decision-making systems, guideline websites, professional association websites, medical literature service websites, and databases such as UpToDate, Cochrane Library, British Medical Journal (BMJ) Best Practice, China Guidelines Network, China National Knowledge Infrastructure, WanFang Med Online, China Biology Medicine disc, and VIP. The search period was from database establishment to March 1, 2023. Two researchers who received evidence-based nursing knowledge training independently conducted literature screening and quality evaluation, and jointly discussed with clinical experts on the literature that met the requirements to complete evidence extraction and summary.Results:A total of 11 articles were included, including three clinical decision-making, four guidelines, three expert consensus, and one systematic review. A total of 30 pieces of best evidence were summarized from six aspects, including fertility assessment and safety, fertility preservation methods, fertility preservation surgery and anti-tumor treatment, fertility timing, pregnancy management and follow-up, and special treatment for pregnancy with cervical cancer.Conclusions:The evidence on fertility management for cervical cancer patients of childbearing age provides a basis for clinical medical and nursing staff to provide fertility guidance for cervical cancer patients. In clinical application, factors such as patient willingness and condition should be fully considered, and personalized treatment plans should be provided to maximize patient benefits.

Objective:To understand the status of frailty in postoperative gastric cancer patients and to explore its influence on symptom groups during the initial oral chemotherapy. Provide theoretical guidance for symptom management of cancer patients.Methods:A total of 133 postoperative gastric cancer patients who received initial oral chemotherapy were selected as subjects by cross section survey from Octomber 2021 to Octomber 2022 in Department of Oncology, First People′s Hospital of Changzhou by couvenient sampling method. Baseline data of patients before chemotherapy were investigated by general data questionnaire and Frailty Phenotype. Symptoms on the 2nd and 14th day of chemotherapy were investigated by M. D. Anderson Symptom Inventory-Gastrointestinal Cancer Module.Results:The incidence of frailty in postoperative gastric cancer patients was 48.9% (65/133). On the 2nd day of chemotherapy, there were four symptom clusters, namely emotional symptom cluster, gastrointestinal symptom cluster, disease related symptom cluster and neurological symptom cluster, and the cumulative variance contribution rate was 61.20%. On the 14th day of chemotherapy, there were five symptom clusters after gastric cancer specific symptom cluster appeared. and the cumulative variance contribution rate was 63.90%. On the 2nd day of chemotherapy, frailty had statistical significance on emotional symptom cluster, gastrointestinal symptom cluster andneurological symptom cluster ( t = 3.52, 2.66, 5.48, all P<0.05), which explained 7.2%, 4.1% and 15.1% of symptom group severity, respectively. On the 14th day of chemotherapy, frailty still had statistical significance on emotional symptom cluster, gastrointestinal symptom cluster and neurological symptom cluster ( t = 3.41, 5.47, 4.06, all P<0.05), which explained 7.1%, 13.2% and 9.6% of symptom group severity, respectively. Conclusions:The incidence of frailty in patients with postoperative gastric cancer was at a relatively high level. The emotional symptom cluster, gastrointestinal symptom cluster, and neurological system related symptom cluster in patients with frailty were more serious at different time points.

ObjectiveTo summarize the current research of traditional physical and mental exercise in elderly patients with mild cognitive impairment （MCI） by means of a scoping review， so as to provide references for exercise intervention in elderly patients with MCI. MethodsRelevant literatures related to the application of traditional physical and mental exercise in elderly MCI patients were searched from CNKI， Wanfang， VIP database， PubMed， Web of Science and Embase， and the retrieval time was set up until June 2021. Basic information， traditional physical and mental exercise methods and application effects were extracted from the selected literatures. The application of traditional physical and mental exercise in elderly MCI patients were summarized. ResultsA total of 22 literatures were involved in the final review， and the intervention methods were as follows， combined intervention of various traditional physical and mental exercise（2）， Baduanjin（9）， Tai Chi（9）， Liuzijue（1） and Qigong（1）. The intervention plan lasted from 2 to 18 months in total， 2 to 5 sessions per week， and each session was 40 to 90 minutes. Traditional physical and mental exercise had an overall positive effect on cognitive function， sleep quality， memory and reaction time of elderly patients with MCI， but its effect on daily living ability and depression was controversial. ConclusionTraditional physical and mental exercise can improve cognitive function and physical function of elderly patients with MCI， which may be a safe and effective treatment.

objective To analyze the clinical characteristics of pneumonia in patients with aplastic anemia for improving early prevention and clinical diagnosis. Methods A retrospective analysis was conducted for patients with aplastic anemia treated in our hosipital from June 2013 to April 2018. The clinical data of pneumonia were reviewed and analyzed in terms of radiological findings, pathogen distribution, and related risk factors. Results The clinical manifestations are atypical in patients with aplastic anemia. The imaging findings suggested that the infection was mainly bilateral pulmonary infection. The common pathogens were gram-negative bacteria such as Klebsiella pneumoniae. Disease type, agranulocytosis and low serum albumin level were independent risk factors for pneumonia in patients with aplastic anemia. Regular immunosuppressive therapy is a protective factor for pneumonia in patients with aplastic anemia. Conclusions The clinical manifestations of pneumonia are diverse in patients with aplastic anemia. The pathogens are mainly gram-negative bacteria. Empirical use of β-lactam-β-lactamase inhibitor combinations or quinolones is beneficial for controlling infection. Regular immunosuppressive therapy, recovery of hematopoietic function, nutritional support are effective measures to reduce the incidence of pneumonia in patients with aplastic anemia.

Objective: To investigate the changes and clinical significance of Caveolin-1, matrix metalloproteinase-9(MMP-9) and interleukin-1β(IL-1β)in cerebrospinal fluid of children with bacterial meningitis or viral encephalitis. Methods: Thirty-six cases of children with bacterial meningitis, 42 cases of children with viral encephalitis, and 20 cases of children with non-nervous system infection were selected from September 2016 to June 2018 at the Third Affiliated Hospital of Zhengzhou University.The levels of Caveolin-1, MMP-9 and IL-1β in cerebrospinal fluid were detected by using enzyme linked immunosorbent assay(ELISA). Results: Cerebrospinal fluid Caveolin-1, MMP-9 , IL-1β levels in the acute phase of bacterial meningitis were(49.06±8.96) ng/L, (134.79±18.88) μg/L, (100.02±14.67) μg/L, respectively, and (29.13±7.25) ng/L, (18.69±7.23) μg/L, (47.57±8.95) μg/L in recovery phase, which were higher than those of the controls[(11.18±2.24) ng/L, (11.53±3.54) μg/L, (39.75±7.08) μg/L)], and the differences were significant (all P<0.05). Cerebrospinal fluid Caveolin-1, MMP-9, IL-1β levels in the acute phase of viral encephalitis were (42.71±10.48) ng/L, (62.78±17.39) μg/L, (57.97±11.28) μg/L, respectively, and (29.13±7.25) ng/L, (18.69±7.23) μg/L, (47.57±8.95) μg/L in recovery phase, which were higher than those of controls, and the differences were significant (all P<0.05). The levels of Caveolin-1, MMP-9 and IL-1β in cerebrospinal fluid of bacterial meningitis group and viral encephalitis group were significantly higher than those of convalescent group (all P<0.05). The levels of Caveolin-1, MMP-9, IL-1β in cerebrospinal fluid of bacterial meningitis group were significantly higher than those in viral encephalitis group (all P<0.05) in the acute phase, and no significant difference was found in the recovery phase(all P>0.05). Cerebrospinal fluid Caveolin-1, MMP-9, IL-1β showed no significant difference among children with different severity of intracranial infection.Correlation analysis showed that there was a positive correlation between Caveolin-1, MMP-9 and IL-1 β levels in cerebrospinal fluid of acute in bacterial meningitis group and viral encephalitis group(Caveolin-1 and MMP-9: R²=0.239, P<0.05; MMP-9 and IL-1β: R²=0.766, P<0.01; Caveolin-1 and IL-1β: R²=0.245, P<0.05). Conclusions Caveolin-1, MMP-9 and IL-1 β involved in the pathogenesis of intracranial infection in children, and the effects of different pathogens on intracranial infection were different.

Objective To study the clinical characteristics of outpatients with hand,foot and mouth disease (HFMD) caused by different serotypes of enteroviruses.Methods This was a prospective study.From February 2017 to March 2018,563 outpatients with HFMD were enrolled by systematic sampling in the Department of Infectious Diseases,Henan Children's Hospital.Throat swabs were collected to determine the serotypes via PCR.Demographic,clinical,and laboratory data were collected by standard questionnaire.All cases were followed up twice at 2 and 9 weeks after the initial outpatient visit through telephone interview.A total of 563 cases were enrolled and 555 (98.6％) cases were positive for human enteroviruses,including 338 (60.9％) males.Analyses were stratified by enterovirus serotypes,Chi square test or Fisher's exact test,Rank sum test was used for comparison among different groups.Results The age of 555 cases was 24.2 (16.4,41.3) months.Among them 44.0％ (224 cases) were identified as coxsackievirus (CV)-A6,while 189 cases,35 cases,14 cases and 73 cases were identified as CV-A16,enterovirus (EV)-A71,CV-A10 and other serotypes,respectively.Fever (≥37.5 ℃C) was present in 51.4％(285/555) of laboratory confirmed cases.The proportions of fever in cases of CV-A6 (68.9％(168/244)) and CV-A10 (12/14) were significantly higher than those in cases of CV-A16 (31.7％(60/189),x2=57.344,14.313,both P=0.000),other serotypes (43.8％(32/73),x2=15.101 and 8.242,P=0.000 and 0.004) and EV-A71 (37.1％(13/35),x2=13.506 and 9.441,P=0.000 and 0.002) respectively.There was no significant difference between CV-A6 and CV-A10 in presentation of fever (x2=1.785,P=0.182).There were 359 cases (64.7％) with eruptions in mouth,hands,feet and buttocks.Cases infected with EV-A71 had the highest proportions (74.3％(26/35)) of rash emerging simultaneously in mouth,hands,feet,and buttocks.The proportion in cases of CV-A 16,CV-A6,CVA 10 and other serotype were 73.5％ (139/189),61.9％ (151/244),7/14 and 49.3％ (36/73),respectively.The proportion of rash on other parts of body,such as face,limbs or torso in cases infected with CV-A6 (16.8％ (41/244)) was the higherest and the proportion in cases of CV-A16,EV-A71,CV-A10 or other serotypes were 8.5％(16/189),5.7％(2/35),1/14,6.8％(5/73),respectively.None of these cases developed serious complications.Desquamation occurred in 45.5％ (179/393) cases 7.5 (5.0,9.0) days after disease onset and 13.5％ (53/393) cases showed onychomadesis 31.0 (18.0,33.5) days after disease onset.The proportion of desquamation and onychomadesis associated with CV-A6 (64.2％ (95/148) and 31.8％ (47/148)) was significantly higher than CV-A16 (31.8％ (49/154) and 1.3％ (2/154),x2=33.601 and 52.482,both P=0.000) and other serotypes (38.0％(19/50) and 6.0％(3/50),x2=10.236 and 12.988,P=0.001 and 0.000).Desquamation appeared more in cases of CV-A6 than in cases of CV-A10 (2/11,x2=9.386,P=0.002),with the proportion of onychomadesis higher in CV-A6 than in EV-A71 (3.3％ (1/30),x2=11.088,P=0.001).Conclusion Clinical manifestation such as fever,rash emerging parts,desquamation and onychomadesis are different among outpatient HFMD cases infected with CV-A16,CV-A6,EV-A71,CV-A10 and other enteroviruses.

Objective To establish and assess the new method of APTT assay based on the combinations of Mg2+and Ca2+for lupus anticoagulants(LA)measurements.Methods This prospective study included 309 trisodium citrate anticoagulated plasma samples from 244 random patients and 65 patients with different autoimmune diseases(AID)to establish and assess the method of LA measurement, respectively.Final concentrations of 0,2.0, 4.0, 8.0,16.0 mmol/L Mg2+were added into 25 mmol/L Ca2+solution, and Actin reagent was used to measured plasma APTT of 94 patients.The applied concentration of Mg2+-Ca2+solution was confirmed through the special and significant alteration of APTT from LA-positive and -negative plasma observed in the presence of Mg 2+(test solution).Based on Actin reagent use,the test solution and 25 mmol/L Ca2+solution were applied to measure APTT of patients and normal individuals, respectively, and the ratio of Mg2+-Ca2+-APTT to Ca2+-APTT(Mg2+-Ca2+-APTT indices)and normalized Mg2+-Ca2+-APTT indices(NAR)were calculated, respectively.Mixed plasma NAR was measured,and CV%was calculated to evaluate the repeatability and stability of Mg 2+-Ca2+-APTT method.APTT of 150 patients was measured with the test solution and Actin reagent to calculate Mg 2+-Ca2+-APTT indices, and normalized LA ratio was determined with dRVVT method.The applicability of Mg2+-Ca2+-APTT assay was assessed through comparisons of the results from the two methods.Finally, NAR and NLR of 65 patients with AID(including 26 SLE patients)were measured with Mg2+-Ca2+-APTT assay and dRVVT method, respectively, and ROC curve was also used to assess the efficacy of the two methods for LA measurements.Results In all LA-negative plasma,APTT increased from 28.1 ±4.5 s to 61.2 ±7.9 s in normal APTT group,47.2 ±8.9 s to 97.5 ±10.3 s in increased APTT group,and 27.6 ± 5.1 s to 61.2 ±7.9 s in ACA-positive group when Mg2+increased from 0 to 8 mmol/L in Mg2+-Ca2+solution(F=34.12, 38.9 and 28.35,P<0.01).Following increased Mg2+concentration, APTT shortened from 0 to 4.0 mmol/L, but simultaneously prolonged from 4.0 to 16.0 mmol/L in LA-positive plasma with prolonged or normal APTT(F=31.55 and 39.51, P<0.01), and APTT was significantly higher in 8.0 mmol/L than that in 4.0 mmol/L(P<0.001).The test concentration of Mg 2+/Ca2+solution was 4.0 mmol/L.The within, inter-day CV% of NAR was 1.39%,2.30%, and 3.44%, respectively. According to the judging criteria of <0.966 and >1.034 of Mg2+/Ca2+indices, there was 141 patients with increased indices and NLR <1.20, and 9 patients with decreased ones and NLR≥1.20 in all 150 patients.The area under ROC curve of NAR and NLR for LA detection was 0.913(95%CI:0.848-0.978) and 0.892(95%CI:0.817-0.966), respectively, and the cut-off value was 0.87 and 1.13, respectively. The sensitivity and specificity of NAR(85% and 77%)was higher than that of NLR(81% and 74%), respectively.The accordant rate of positive,negative,and total results between NAR and NLR was 94.4%, 98.5%,and 98%,respectively.Conclusion The method of APTT assay based on Mg2+combining Ca2+for LA measurements is feasible,and can be used to detect plasma LA of patients.

Objective To investigate the neuro-protective effect of bone marrow mesenchymal stem cells (BMSCs)transplantation in cerebral ischemia/reperfusion injury model. Methods The modified Zea-Longa suture method was adopted to establish rat middle cerebral artery occlusion(MCAO)/reperfusion injury model.Experimen-tal rats were randomly divided into blank group,model group,PBS group and BMSCs transplantation group. PBS group and BMSCs transplantation group were respectively received tail vein injection of 1 mL PBS or BMSCs(l × l06)6 h after the establishing of MCAO/reperfusion model. Neurological function was evaluated using the modified neurologic severity score(mNSS)scale at 12 h,1 d,3 d and 7 d after operation.Quantitative real-time PCR was used to detect the levels of miR-34a and miR-21 in ischemic brain tissue. Results(1)The mNSS scores in BM-SCs transplantation group showed no significant difference when compared with those in model group at 12 h and 1 d after operation(P > 0.05),whereas were significantly lower than those in model group at 3 d and 7 d(P <0.05).(2)Compared with model group,BMSCs transplantation group showed decreased level of miR-34a(P <0.01),while elevated level of miR-21 at different time points(P<0.01). Conclusions BMSCs transplantation can improve the impaired neurological function induced by cerebral ischemia/reperfusion injury,showing neuro-pro-tective effect.The mechanism may be associated with regulating the expressions of apoptosis-related microRNAs.

BACKGROUND: Representative formulae of Qi-Benefiting and Blood-Activating Chinese medicinal herbs Bu Yang Huan Wu Tang (BYHWT) can improve microcirculation and hypoxia, decrease fibrinogen, resist platelet aggregation, reduce blood lipid, dilate blood vessel, resist thrombosis, and reduce neonatal plaque rupture, and has a multi-target, multi-channel anti-atherosclerotic effect.
OBJECTIVE: To observe the influence of representative formulae of Qi-Benefiting and Blood-Activating Chinese medicinal herbs BYHWT on aorta Rho kinase, tissue factor, matrix metal oproteinase-2, matrix metal oproteinase-9 mRNA expression in atherosclerosis models, and to explore the action mechanism of BYHWT on anti-atherosclerosis.
METHODS: Vitamin D3 and high fat diet induced atherosclerosis in rats. 60 rats were randomly divided into normal control group, model group, 10 g/kg BYHWT therapy group, 20 g/kg BYHWT therapy group, simvastatin control group and BYHWT prevention group (n=10). At 28 days after model establishment, the expression level of Rho kinase, tissue factor, matrix metal oproteinase-2, matrix metal oproteinase-9 mRNA expression and blood lipid level were detected.
RESULTS AND CONCLUSION: (1) High fat diet and vitamin D3 could induce atherosclerosis in rats. Atherosclerotic plaque formed in the model group. (2) Rho kinase, tissue factor, matrix metal oproteinase-2, matrix metal oproteinase-9 mRNA expression and blood lipid were significantly lower in the normal control group, 20 g/kg BYHWT therapy group, simvastatin control group and BYHWT prevention group than in the model group (P < 0.01). Above indexes were significantly lower in the 10 g/kg BYHWT therapy group than in the model group (P < 0.05). No significant difference in above indexes was detected among BYHWT prevention group, 20 g/kg BYHWT therapy group and simvastatin control group (P > 0.05). (3) Results indicated that Qi-Benefiting and Blood-Activating BYHWT can resist atherosclerosis, down-regulate the expression of Rho kinase, tissue factor, matrix metal oproteinase-2, and matrix metal oproteinase-9 mRNA expression, which may be one of the mechanisms of anti-atherosclerosis.