Objective To understand the carrying situation and common variation of pathogenic genes of single gene hereditary disease in childbearing age population in Anhui province,to explore the establishment of clinical application network and referral model of carrier screening in Anhui province,and to explore the application value of expansible carrier screening(expanded carrier screening,ECS)in clinic.Methods Samples were collected from 604 individuals of childbearing age,all exhibiting a normal phenotype and a family history of inherited dis-ease.These samples were obtained during the first trimester or early stages of pregnancy(≤13+6 weeks).Based on high-throughput sequencing and special PCR analysis techniques,pathogenic variants associated with 220 disea-ses were detected,and related genes were detected in the spouses of positive carriers.Results As of May 16,2023,604 tested samples had been collected,and 340 carriers of the target disease had been detected;The posi-tive rate of pathogenic variation detection was 56.29％ ;A total of 499 pathogenic variants were detected,with each tested individual carrying 0-5 variants;216 cases,accounting for 35.76％ ,carried a single gene recessive dis-ease pathogenic variation,which was the most common.There were 95 cases carrying two types of single gene re-cessive genetic disease pathogenic variation,accounting for 15.73％ .As of now,302 couples have been reported,and a total of 7 high-risk couples have been found through screening,with a high-risk rate of 2.32％ .There are a total of 5 pairs with autosomal recessive genetic pattern(both spouses carry the same pathogenic gene),and 2 pairs with X-linked genetic pattern(the female carries the X-linked pathogenic gene).Conclusion In this study,we obtained the overall carrier and clinical application of target diseases as well as the carrier rates of causative genes of common single-gene genetic diseases in 604 subjects who underwent ECS testing,which could provide scientific guidance for the establishment of a clinical application network and referral model for carrier screening in Anhui Province.

Objective To investigate the effect of electroacupuncture preconditioning on microglia polarization in rats after cerebral ischemia reperfusion(IR)injury and explore the role of tyrosine kinase 2(J AK2)/signal transducer and activator of transcription 3(STAT3)pathway in the process.Methods Forty-five clean-grade healthy male Sprague-Dawley rats were randomly and equally divided into sham operation group,IR group and electroacupuncture preconditioning group.Rat model of IR injury was induced with thread occlusion of the internal carotid artery.Before modeling,electroacupuncture preconditioning was applied to Baihui acupoint for 5 consec-utive days in the preconditioning group,and exposure of the cervical blood vessels were inflicted in the sham-operation group.At 24 h after reperfusion,the severity of neurological deficit was observed by modified neurological deficit score(mNSS),and the cerebral infarct volume was observed by TTC staining.Western blotting was used to detect the protein levels of classical acti-vated type(M1)marker inducible nitric oxide synthase(iNOS),alternative activated type(M2)marker arginase 1(Arg-1),JAK2 and p-JAK2,and STAT3 and p-STAT3,and q-PCR was applied to detect the mRNA expression of iNOS and Arg-1.The expression of TNF-α and IL-10 was measured by ELISA.Results Compared with the sham operation group,the mNSS,infarct vol-ume,protein levels of p-JAK2/JAK2,p-STAT3/STAT3,protein and mRNA levels of iNOS and Arg-1,and expression of TNF-α and IL-10 were significantly increased in the IR and electroacu-puncture preconditioning groups(P＜0.01).The preconditioning group had obviously lower mNSS,smaller infarct volume,decreased protein levels of p-JAK2/JAK2,p-STAT3/STAT3,re-duced protein and mRNA levels of iNOS,and declined TNF-α expression,but elevated expression of Arg-1 at protein(2.0±0.2 vs 1.5±0.1)and mRNA(4.2±0.8 vs 3.1±0.3)levels and increased IL-10 expression(49.1±7.1 pg/mg vs 27.9±5.9 pg/mg)when compared with the IR group(P＜0.01).Conclusion Electroacupuncture preconditioning can promote the polarization of microglia to M2 and inhibit the polarization of microglia to M1 after cerebral IR injury,which may be relat-ed to the inhibition of JAK2/STAT3 pathway.

Objective:To explore the mediating role of working memory (WM) in the cortisol-awakening response (CAR) and multiple object tracking (MOT) in children with attention deficit hyperactivity disorder (ADHD).Methods:92 children with ADHD (ADHD group) and 94 typically developing children (control group) were selected from January 2022 to October 2022. Salivary cortisol levels were detected and analyzed in all children at four time points after awakening. Children's WM and MOT performance were assessed by the 1-back and MOT paradigms, respectively. SPSS 26.0 software was used for t-test and Pearson correlation analysis of the data, and plug-in PROCESS model 4 of SPSS 26.0 was used for mediated effects analysis. Results:(1) ADHD group showed significantly lower CAR, 1-back accuracy and MOT performance((30.97±5.63), (81.33±10.64) %, (2.36±0.37)) than the control group((32.41±3.48), (91.19±7.12) %, (2.62±0.28))( t=-2.09, -7.22, -5.31, all P<0.05). (2) Pearson analysis showed that CAR was positively correlated with 1-back accuracy ( r=0.293, P<0.01) and MOT performance ( r=0.740, P<0.01). 1-back accuracy was positively correlated with MOT performance ( r=0.368, P<0.01). (3) WM partially mediated the effect of CAR on MOT in children with ADHD, accounting for 6.13% (0.003/0.049) of the total effect. Conclusion:Children with ADHD have deficits in MOT.WM plays a mediating role between CAR and MOT performance in children with ADHD.

AIM:To investigate the effect of protopanaxatriol(PPT)on the drug resistance of paclitaxel(PTX)-resistant human breast cancer MDA-MB-231 cells(MB231-PR cells).METHODS:The MB231-PR cells were constructed as cell models.They were treated with PPT,and incubated for a certain period of time according to the experi-mental settings.CellTiter-Glo was used to determine the viability of MB231-PR cells and MDA-MB-231 parental cells(MB231-PT cells).The change of sub-G1 phase was detected by flow cytometry.Western blot was used to evaluate the apoptosis-related proteins,such as cleaved caspase-3,cleaved poly(ADP-ribose)polymerase(PARP),B-cell lymphoma-2(Bcl-2),Bcl-2-associated X protein(Bax)and survivin.The activity of nuclear factor-κB(NF-κB)was detected by lu-ciferase reporter assay and immunofluorescence assay.The mRNA expression levels of interleukin-6(IL-6),IL-8,chemo-kine CXC motif ligand 1(CXCL1),chemokine CC motif ligand 2(CCL2),CD44,NANOG,octamer-binding transcrip-tion factor 4(OCT4),sex-determining region Y-box 2(SOX2)and aldehyde dehydrogenase 1(ALDH1)were detected by qPCR.The protein levels of IL-6 and IL-8 were measured by ELISA.Tumor sphere formation assay was used to evaluate the characteristics of stem cells.RESULTS:(1)The viability of MB231-PR cells was suppressed by PPT treatment in a dose-dependent manner compared with MB231-PT cells(P<0.01).Besides,the viability of MB231-PR cells was de-creased after combined treatment with PPT and PTX(P<0.01),the accumulation of sub-G1 phase was induced(P<0.01),the ratio of Bax/Bcl-2 was elevated(P<0.01),and the protein levels of survivin,cleaved PARP and cleaved cas-pase-3 were increased(P<0.05).(2)After PPT treatment combined with PTX,the mRNA expression of inflammatory cy-tokines(IL-6,IL-8,CXCL1 and CCL2)and cancer stem cell-related markers(OCT4,SOX2,NANOG,ALDH1 and CD44)was reduced(P<0.05),and the protein levels of IL-6 and IL-8 were decreased(P<0.01).The activity of NF-κB in MB231-PR cells was suppressed(P<0.05),and the growth of tumor spheres from MB231-PR cells was damaged(P<0.05).(3)Immunofluorescence assay showed that PTX induced nuclear p-p65 expression,but this effect was attenuated by PPT.CONCLUSION:Combined treatment with PPT and PTX could attenuate PTX resistance of MB231-PR cells by inhibiting inflammatory cytokines and cancer stem cells.

Objective To establish a scientific training program that takes into account both anaerobic and aerobic training for pilots,and to explore the appropriate ratio of aerobic and anaerobic training.Methods According to the physical examination standards for pilots,a total of 16 healthy subjects aged 18-24 were selected from two batches.The two batches of subjects were trained with different aerobic and anaerobic ratios.Training period was 3 months.The changes in cardiopulmonary function of the subjects before and after training were evaluated using the cardiopulmonary function exercise testing system(CPET),and the changes in anaerobic capacity were evaluated using changes in strength as an indicator.Results After training,the weight load of the subjects in the two training programs,including barbell squats,leg flexion and hard pull,and barbell under 10RM and 3RM,was significantly increased(P<0.001),and there was no statistically significant difference in anaerobic strength growth between the two groups.The results of CPET showed that the maximum load,maximum heart rate,and respiratory quotient in the two groups were significantly increased after than before the training(P<0.01).The maximum load(Experiment group 1:29.12±19.69,Experiment group 2:72.00±46.24)and respiratory quotient(Experiment grouop 1:0.11±0.09,Experiment group 2:0.28±0.16)of the subjects in experiment group 2 before and after training were greater than those in experiment group 1.The difference was statistically significant(P<0.05).Conclusion The anaerobic and aerobic capacities of the subjects in the experiment group 2 are effectively improved,indicating that ratio of aerobic and anaerobic of the training scheme is better.

This experiment aims to investigate the effects of a dietary supplement of herbal tea resi-due on white feather broilers in the prospectives of growth performance,serum indexes and intesti-nal immune indexes.A total of 280 1-day-old white feather broilers with similar body mass and good health were randomly divided into 4 groups with 5 replicates per group and 14 birds per repli-cate.Group Ⅰ(control group)was fed a basal diet.Groups Ⅱ,Ⅲ and Ⅳ were fed a diet supple-mented with 2％,4％and 6％herbal tea residue powder,respectively.The feeding lasted for 49 days,and was divided into 2 phases from 1 to 21 days of age and 22 to 49 days of age.Blood,tissue and mucosa of the duodenum and jejunum were collected on 21 d and 49 d.Total cholesterol(T-CHO),triglyceride(TG),high density lipoprotein cholesterol(HDL-C),low density lipoprotein cholesterol(LDL-C)and the activities of aspartate aminotransferase(AST)and alanine amin-otransferase(ALT)in the serum were examined.The villus height and crypt depth of the jejunum were observed and measured by morphology.The mRNA expression levels of intestinal interleukin-1β(IL-1β),interleukin-2(IL-2),interleukin-4(IL-4),interleukin-10(IL-10)and tumor necrosis factor-α(TNF-α)were determined by qPCR.The results showed that compared with group Ⅰ,the mass of group Ⅲ on 21 d and 49 d significantly increased(P＜0.05).The average daily feed intake of 22-49 d and 1-49 d significantly increased(P＜0.05).The average daily mass gain of 1-21 d,22-49 d and 1-49 d significantly increased(P＜0.05).In the serum of 21 d,compared with group Ⅰ,T-CHO in group Ⅱ significantly decreased(P＜0.05).TG in groups Ⅱ,m and Ⅳ significantly de-creased(P＜0.05).LDL-C and AST activity in group Ⅳ significantly decreased(P＜0.05).In the serum of 49 d,T-CHO in group Ⅲ,LDL-C in group Ⅳ,HDL-C of groups Ⅲ and Ⅳ significantly increased(P＜0.05),and the ALT activity of these two groups decreased(P＜0.05).AST activity in group Ⅱ significantly decreased(P＜0.05).In the duodenum of 21 d,compared with group Ⅰ,the expressions of TNF-α in group Ⅱ was significantly decreased(P＜0.05).In the duodenum of 49 d,the expression of IL-10 in group Ⅱ was significantly increased(P＜0.05),and the expression of IL-2 in groups Ⅲ and Ⅳ was significantly decreased(P＜0.05).In the jejunum of 49 d,the ex-pression of IL-10 in group Ⅱ was increased(P＜0.05),and the expression of IL-2 in groups Ⅲand Ⅳ was significantly decreased(P＜0.05).In conclusion,dietary herbal tea residue can regulate circulating lipid level and enhance intestinal immunity of white feather broilers without affecting their normal growth performance.This experiment also suggested that the a 2％-4％supplementa-tion of herbal tea residues to white feather broilers was of good effect.

The study adopted muscle injection of pVAX1-SP-GHRH(1-44)expression plasmid and electrostimulation to determine its effects on mouse growth and sow production performance.One hundred and fifty four-week-old C57 BL/6 female mice were randomly divided into 6 groups of 5 replicates each.Muscle single-injection followed by electrostimulation was performed.The con-trol group received an empty plasmid injection(80 μg/kg),while the treatment groups received pVAX1-SP-GHRH(1-44)plasmid injections(20,40,80,120,160 μg/kg).Twenty healthy preg-nant sows were randomly divided into 2 groups,each with 10 sows.Electrostimulation treatment was applied to the semimembranosus muscle of the pregnant sows after a single injection.The con-trol group received physiological saline injection,while the plasmid group received a 2 mg pVAX1-SP-GHRH(1-44)expression plasmid injection.Mouse weight,feed intake,and serum GHRH and IGF-1 levels were measured at days 0,7,14,21,and 28 after injection.Pregnant sows were bled via the tail vein at days 0,14,28,and 42 after injection,and their serum was separated to measure serum GHRH and IGF-1 levels.The birth weight,placental weight,number of piglets born,number of healthy piglets,number of weak piglets,number of deformed piglets,number of stillborn piglets,and number of mummified piglets were recorded at day 14.The mouse study re-sults showed that muscle injection of pVAX1-SP-GHRH(1-44)plasmid followed by electrostim-ulation could promote mouse feeding and increase weight gain(P＜0.05),significantly increase mouse serum GHRH and IGF-1 levels(P＜0.05),and maintain its effects until day 21.The results of the pregnant sow study showed that the average birth weight of the piglets in the plasmid group was significantly increased(P＜0.01),and the placenta weight was significantly increased(P＜0.05).The serum GHRH and IGF-1 concentrations in the plasmid group sows were significantly increased(P＜0.01).The study results showed that muscle injection of pVAX1-SP-GHRH(1-44)expression plasmid followed by electrostimulation could promote mouse feeding and increase weight gain,and also significantly improve the average birth weight and placental weight of the piglets in pregnant sows.

Objective To evaluate the application effect of a novel hemodialysis catheter fixing strap in clinical hemodialysis. Methods A total of 199 hemodialysis patients from the Second Affiliated Hospital of Anhui Medical University between May and July 2023 were enrolled in this study. Employing the self-controlled study design, patients were initially fixed with conventional adhesive tape (fixation method A) for their dialysis tubing from May 20 to June 20, 2023. Subsequently, from June 21 to July 21, 2023, patients were transitioned to a novel hemodialysis catheter fixing belt (fixation method B) for the fixation of their dialysis tube. The incidence of puncture needle, central venous catheter displacement, the stability of fixation, and the satisfaction levels of nurses and patients were compared between the two fixation methods. Results The rate of puncture needle/central venous catheter displacement with method B was significantly lower than that with method A (P < 0.001). No statistically significant difference was observed in the puncture needle/central venous catheter displacement between the two methods (P>0.05). The stability of fixation with method B was significantly higher than that with method A (P < 0.001). Patients' satisfaction with fixation method B (in favor of mobility and comfort) was significantly higher than that with fixation method A (P < 0.001); similarly, nurses'satisfaction with fixation method B (in favor of cleaning and convenient operation) was markedly superior to that with fixation method A (P < 0.001). Conclusion Compared with the traditional adhesive tape fixation method, the novel hemodialysis catheter securing strap effectively secures the catheter with improved safety and significantly enhances the satisfaction of both nurses and patients.

Ischemic stroke is the main cause of death and disability in adults, and its incidence is increasing year by year. Obstructive sleep apnea (OSA) is the most common type of sleep-disordered breathing, which can increase the risk of ischemic stroke and affect the outcomes of patients. There is an increasing amount of research on the relationship between OSA and ischemic stroke. This article reviews the bidirectional relationship between OSA and ischemic stroke, the mechanism of OSA causing ischemic stroke, and the diagnosis and treatment of OSA in patients with ischemic stroke.

Carotid atherosclerosis is closely associated with ischemic stroke. Research shows that the rupture of vulnerable carotid plaque is an important reason for carotid atherosclerosis leading to thromboembolic events. Therefore, early identification of vulnerable carotid plaques is of great significance for the diagnosis, treatment, and prevention of ischemic stroke. This article reviews the pathophysiological features, imaging evaluation of carotid plaque and its relationship with ischemic stroke.