Humanβ-defensin-1 affects the mammalian target of rapamycin pathway and autophagy in colon cancer cells through long noncoding RNA TCONS_00014506

BACKGROUND Colorectal cancer has a low 5-year survival rate and high mortality.Humanβ-defensin-1(hBD-1)may play an integral function in the innate immune system,contributing to the recognition and destruction of cancer cells.Long non-coding RNAs(lncRNAs)are involved in the process of cell differentiation and growth.AIM To investigate the effect of hBD-1 on the mammalian target of rapamycin(mTOR)pathway and autophagy in human colon cancer SW620 cells.METHODS CCK8 assay was utilized for the detection of cell proliferation and determination of the optimal drug concentration.Colony formation assay was employed to assess the effect of hBD-1 on SW620 cell proliferation.Bioinformatics was used to screen potentially biologically significant lncRNAs related to the mTOR pathway.Additionally,p-mTOR(Ser2448),Beclin1,and LC3II/I expression levels in SW620 cells were assessed through Western blot analysis.RESULTS hBD-1 inhibited the proliferative ability of SW620 cells,as evidenced by the reduction in the colony formation capacity of SW620 cells upon exposure to hBD-1.hBD-1 decreased the expression of p-mTOR(Ser2448)protein and increased the expression of Beclin1 and LC3II/I protein.Furthermore,bioinformatics analysis identified seven lncRNAs(2 upregulated and 5 downregulated)related to the mTOR pathway.The lncRNA TCONS_00014506 was ultimately selected.Following the inhibition of the lncRNA TCONS_00014506,exposure to hBD-1 inhibited p-mTOR(Ser2448)and promoted Beclin1 and LC3II/I protein expression.CONCLUSION hBD-1 inhibits the mTOR pathway and promotes autophagy by upregulating the expression of the lncRNA TCONS_00014506 in SW620 cells.

Analysis of quality of life in patients after transgastric natural orifice transluminal endoscopic gallbladder-preserving surgery

BACKGROUND At present,laparoscopic cholecystectomy(LC)is the main surgical treatment for gallstones.But,after gallbladder removal,there are many complications.Therefore,it is hoped to remove stones while preserving the function of the gallbladder,and with the development of endoscopic technology,natural orifice transluminal endoscopic surgery came into being.AIM To compare the quality of life,perioperative indicators,adverse events after LC and transgastric natural orifice transluminal endoscopic gallbladder-preserving surgery(EGPS)in patients with gallstones.METHODS Patients who were admitted to The First Affiliated Hospital of Xinjiang Medical University from 2020 to 2022 were retrospectively collected.We adopted propen-sity score matching(1:1)to compare EGPS and LC patients.RESULTS A total of 662 cases were collected,of which 589 cases underwent LC,and 73 cases underwent EGPS.Propensity score matching was performed,and 40 patients were included in each of the groups.In the EGPS group,except the gastr-ointestinal defecation(P=0.603),the total score,physical well-being,mental well-being,and gastrointestinal digestion were statistically significant compared with the preoperative score after surgery(P<0.05).In the LC group,except the mental well-being,the total score,physical well-being,gastrointestinal digestion,the gastrointestinal defecation was statistically significant compared with the preoperative score after surgery(P<0.05).When comparing between groups,gastrointestinal defecation had significantly difference(P=0.002)between the two groups,there was no statistically significant difference in the total postoperative score and the other three subscales.In the surgery duration,hospital stay and cost,LC group were lower than EGPS group.The recurrence factors of gallstones after EGPS were analyzed:and recurrence was not correlated with gender,age,body mass index,number of stones,and preoperative score.CONCLUSION Whether EGPS or LC,it can improve the patient’s symptoms,and the EGPS has less impact on the patient’s defecation.It needed to,prospective,multicenter,long-term follow-up,large-sample related studies to prove.

t(4;11)translocation in hyperdiploid de novo adult acute myeloid leukemia:A case report

BACKGROUND MLL gene rearrangement is a common genetic abnormality of acute myeloid leukemia(AML),which predicts poor prognosis and is important in clinical diagnosis.MLL rearrangement involves many chromosomes,among which,t(4;11)translocation is rare in AML.The present case was t(4;11)AML,accompanied by a hyperdiploid karyotype.Such cases have not been reported previously.CASE SUMMARY An adult male with self-reported symptoms of fatigue,febrility and hyperleukocytosis was diagnosed with AML by morphology and confirmed by immunophenotype analysis.Uncommonly,chromosomal and fluorescence in situ hybridization(FISH)analysis showed a hyperdiploid karyotype with t(4;11)translocation and MLL rearrangement,and a negative MLL–AF4 fusion gene result.The patient died of respiratory and circulatory failure 5 days after diagnosis.CONCLUSION t(4;11)AML with hyperdiploid karyotype has not been reported.In this case,t(4;11)was only detected by karyotype analysis and FISH,suggesting their importance in MLL rearrangement detection.

Prevalence of Congenital Heart Disease among Infants from 2012 to 2014 in Langfang, China

Background： Congenital heart disease （CHD） is the most common congenital malformations with high mortality and morbidity. The prevalence of CHD reported previously ranged from 4 per 1000 live births to 50 per 1000 live births. In this cross-sectional study, we aimed to document the prevalence of CHD in Langfang district of Hebei Province, China by analyzing data collected by hospitals located in 11 the counties of the district, as supported by a public health campaign. Methods： A total of 67,718 consecutive 3-month-old infants were included from July 19,2012 to July 18, 2014. Structural abnormalities were diagnosed based on echocardiography findings, including two-dimensional and color Doppler echocardiography results. Results： Of the 67,718 infants, 1554 were found to have cardiac structural abnormalities. The total prevalence of CHD was 22.9 per 1000 live births, a value significantly higher than the previously reported prevalence of 8 cases per 1000 live births. The top five most common cardiac abnormalities were as follows： atrial septal defect （ASD, 605 cases, 8.93‰）; ventricular septal defect （550 cases, 8.12‰）; patent ductus arteriosus （228 cases, 3.37‰）; pulmonary stenosis （66 cases, 0.97‰）; and tetralogy of Fallot （32 cases, 0.47‰）. The CHD prevalence differed by gender in this study （x^2 = 23.498, P 〈 0.001）, and the majority of ASD cases were females. Regional differences in prevalence were also found （x^2 = 24.602, P 〈 0.001）; a higher prevalence was found in urban areas （32.2 cases per 1000 live births） than in rural areas （21. 1 cases per 1000 live births）. There was a significant difference in the prevalence of CHD in preterm versus full-term infants （x^2 - 133.443, P 〈 0.001 ）. Prevalence of CHD in infants of maternal aged 35 years or over was significantly higher （x^2 86.917, P 〈 0.001）. Conclusions： The prevalence of CHD in Langfang district was within the range reported using echocardiography. Echocardiography can be used to early diagnose the CHD.