Expert Consensus on Nutritional Support for Children with Congenital Heart Disease(2023 Edition)

The second edition of the expert consensus on pediatric nutrition was formed based on a global update of pedia-tric nutrition guidelines or consensus worldwide,the management of congenital heart disease,and the results of multi-center clinical nutrition research for congenital heart disease following thefirst Chinese consensus edition of 2016.The consensus was also shaped by the results of three discussion sessions and two questionnaires con-ducted by the 13-member collaboration group.This process was informed by both clinical guidelines and expert consensus.The quality of literature,both in English and Chinese,and the level of recommendations were evaluated using the Grading of Recommendations Assessment,Development,and Evaluations(GRADE)system.

Delayed cardiac tamponade diagnosed by point-of-care ultrasound in a neonate after peripherally inserted central catheter placement: A case report

BACKGROUND Peripherally inserted central catheters(PICCs)have been increasingly applied worldwide owing to many advantages.Even with these advantages,the related complications should not be ignored,especially in neonates.The available evidence about PICC-related thrombosis was manifold,but the cardiac tamponade,an emergency and life-threatening complication,has been rarely reported.Early recognized cardiac tamponade by ultrasound may reduce mortality.CASE SUMMARY A neonate weighting 2.8 kg was born at 40 wk of gestation.He was admitted to the Surgery Intensive Care Unit due to suspected congenital megacolon.A PICC line was inserted via the left antecubital fossa for the administration of total parenteral nutrition.Three days later,the patient was still on total parenteral nutrition.Cardiac tamponade caused by PICC was found on ultrasound.The patient recovered spontaneously after an emergency pericardiocentesis.CONCLUSION Proficiency in the use of point-of-care ultrasound may save the life of patients,since it enables clinicians to treat patients faster,more accurately,and in a noninvasive way at the point of care.

Assessment of Intracardiac and Extracardiac Deformities in Patients with Various Types of Pulmonary Atresia by Dual-Source Computed Tomography

Background:Pulmonary atresia(PA)is a group of heterogeneous complex congenital heart disease.Only one study modality might not get a correct diagnosis.This study aims to investigate the diagnostic power of dualsource computed tomography(DSCT)for all intracardiac and extracardiac deformities in patients with PA compared with transthoracic echocardiography(TTE).Materials and Methods:This retrospective study enrolled 79 patients and divided them into three groups according to their main diagnosis.All associated malformations and clinical information,including treatments,were recorded and compared among the three groups.The diagnostic power of DSCT and TTE on all associated malformations were compared.The surgical index(McGoon ratio,pulmonary arterials index(PAI),and total neopulmonary arterial index)and radiation dose were calculated on the basis of DSCT.Results:Of the patients,32,30,and 17 were divided into the groups of PA with ventricular septal defect(VSD),PA with VSD and major aortopulmonary collateral arteries,and PA with other major malformations,respectively.Consequently,182,162,and 13 intracardiac,extracardiac,and other major malformations were diagnosed,respectively.Moreover,DSCT showed a better diagnostic performance in extracardiac deformities(154 vs.117,p<0.001),whereas TTE could diagnose intracardiac deformities better(159 vs.139,p=0.001).The McGoon ratio,PAI,and treatment methods were significantly different among the three groups(p=0.014,p=0.008,and p=0.018,respectively).Conclusion:More than one imaging modality should be used to make a correct diagnosis when clinically suspecting PA.DSCT is superior to TTE in diagnosing extracardiac deformities and could be used to roughly calculate surgical indices to optimize treatment strategy.

Significance of carcinoembryonic antigen detection in the early diagnosis of colorectal cancer:A systematic review and metaanalysis

BACKGROUND Colorectal cancer(CRC)is a prevalent malignant tumor involving adenomas that develop into malignant lesions.Carcinoembryonic antigen(CEA)is a non-specific serum biomarker upregulated in CRC.The concentration of CEA is modulated by tumor stage and grade,tumor site in the colon,ploidy status,and patient smoking status.This study aimed to evaluate current evidence regarding the diagnostic power of CEA levels in the early detection of CRC recurrence in adults.AIM To evaluate current evidence regarding the diagnostic power of CEA levels in the early detection of CRC recurrence in adults.METHODS A systematic search was performed using four databases:MEDLINE,Cochrane Trials,EMBASE,and the Web of Science.The inclusion criteria were as follows:Adult patients aged≥18 years who had completed CRC curative treatment and were followed up postoperatively;reporting the number of CRC recurrences as an outcome;and randomized,clinical,cohort,and case-control study designs.Studies that were not published in English and animal studies were excluded.The following data were extracted by three independent reviewers:Study design,index tests,follow-up,patient characteristics,and primary outcomes.All statistical analyses were performed using the RevMan 5.4.1.RESULTS A total of 3232 studies were identified,with 73 remaining following the elimination of duplicates.After screening on predetermined criteria,12 studies were included in the final analysis.At a reference standard of 5 mg/L,CEA detected only approximately half of recurrent CRCs,with a pooled sensitivity of 59%(range,33%–83%)and sensitivity of 89%(range,58%–97%).CONCLUSION CEA is a significant marker for CRC diagnosis.However,it has insufficient sensitivity and specificity to be used as a single biomarker of early CRC recurrence,with an essential proportion of false negatives.

Lung injury after cardiopulmonary bypass:Alternative treatment prospects

Although the lung injury caused by cardiopulmonary bypass(CPB)has been extensively investigated,the incidence and mortality of lung injury after CPB remain a prominent clinical problem.The poor outcome has been attributed to multifactorial etiology,including the systemic inflammatory response and ischemia reperfusion(I/R)injury during CPB.Lung injury after CPB is a complex pathophysiological process and has many clinical manifestations of mild to severe disease.Which is associated with prognosis.To alleviate this lung injury,interventions that address the pathogenesis are particularly important.This review summarizes the pathogenesis,mechanism and treatment options of lung injury after CPB,such as lung protection with intralipid.

Plastic bronchitis associated with Botrytis cinerea infection in a child:A case report

BACKGROUND Plastic bronchitis(PB)frequently occurs in children after the surgical repair of congenital cardiac defects or in the presence of inflammatory or allergic diseases of the lung.Accurate epidemiological data of this condition are still lacking.CASE SUMMARY A 5-year-old boy,with a clear medical history,presented to our hospital with persistent cough and pneumonia with segmental atelectasis on chest computerized tomography.He showed no significant improvement after 1 wk of amoxicillin-clavulanate potassium treatment.Bronchial casts were extracted using flexible bronchoscopy.Pathological examination of the dendritic cast confirmed the diagnosis of type I PB.Botrytis cinerea was detected by next-generation sequencing of the bronchoalveolar lavage fluid.After the removal of the airway obstruction and fluconazole treatment,the patient recovered and was discharged 14 d after admission without the recurrence of cough.CONCLUSION Botrytis cinerea pneumonia should be considered in children with PB who still have prolonged cough and atelectasis after a regular course of antibiotic therapy.Flexible bronchoscopy and etiological examination should be performed in a timely manner to determine the diagnosis,clear the airway obstruction,and target etiological treatment.

Myeloperoxidase and High-Sensitivity C-Reactive Protein for Predicting Major Adverse Cardiovascular Events in Patients with Coronary Heart Disease

Background: Research has shown that high-sensitivity C-reactive protein (hs-CRP) is a major inflammatory marker for prediction of acute coronary syndrome (ACS). Myeloperoxidase (MPO) also plays an important role in atherosclerosis initiation and development. In present study, the major adverse cardiovascular events (MACEs) of patients with coronary heart disease (CHD) were investigated. Methods: MPO, hs-CRP and ACS-related risk factors from 201 ACS (78 AMI and 123 UAP) and 210 non-ACS (84 SAP and 126 non-CHD) patients confirmed by coronary angiography were detected, and the data were analyzed with receiver operating characteristic (ROC) curve and Spearman’s correlation coefficients. MACEs of 285 CHD patients were investigated during the 4-year period follow-up from March 2010 to May 2014. Results: The areas under ROC curve for diagnosing ACS were 0.888 (95% CI 0.843 - 0.933) for MPO, and 0.862 (95% CI 0.815-0.910) for hs-CRP, respectively. There were significantly correlations between MPO and hs-CRP in both ACS and non-ACS groups. Regarding to ACS patients, both MPO and hs-CRP were positively correlated with BMI, TC, TG, LDL-C and Hcy. Prospective study demonstrated that the incidences of MACEs associated significantly with elevated MPO baseline level (yes vs no, OR 7.383, 95% CI 4.095 - 13.309) and high hs-CRP baseline level (yes vs no, OR 4.186, 95% CI 2.469 - 7.097) in CHD patients. Conclusions: The present study provides the epidemiological evidence that elevated baseline MPO and hs-CRP levels are both valuable predictors of MACEs in CHD patients. MPO and hs-CRP would prompt the progression of atherosclerosis and development from SAP to ACS.

Early surgical intervention in culture-negative endocarditis of the aortic valve complicated by abscess in an infant:A case report

BACKGROUND Surgical therapy of infective endocarditis(IE)involving aortic valves and mitral valves is widespread.However,there are few reports concerning patients with culture-negative endocarditis complicated by the appearance of comorbid valvular perforation and abscess.Therefore,real-time surveillance of changes in cardiac structure and function is critical for timely surgical management,especially in patients who do not respond to medical therapy.CASE SUMMARY Here,we report an atypical case in a 9-mo-old infant without congenital heart disease but with symptoms of intermittent fever and macular rashes.Physical examination,laboratory tests,and electrocardiograms suggested a diagnosis of IE,although the result of blood cultures was exactly negative.After treatment with antibiotic drugs,the patient got a transient recovery.On the 9th day,we proceeded with continuous echocardiogram due to fever again and the results revealed aortic valve abscess with perforation,regurgitation,vegetation,and pericardial effusion.Intraoperative monitoring revealed aortic valve perforation,presence of apothegmatic cystic spaces below the left coronary cusp of the aortic valve,and severe aortic valve regurgitation.Aortic valve repair was performed by autologous pericardial patch plasty.The patient was discharged after 4 wk of treatment and no complications occurred after surgery.CONCLUSION Our case demonstrated the necessity of serial echocardiography monitoring for possible adverse symptoms of IE in pediatric patients.

Partial Anomalous Pulmonary Venous Connection and the Nature of Associated Sinus Venosus Defect

Background:Partial anomalous pulmonary venous connection(PAPVC)is frequently associated with atrial septal defect(ASD),especially sinus venosus defect(SVD).Although Waggstaffe described the pathology of SVDs in 1868,the exact anatomic features and the nature of SVD remains controversial.SVDs with no posterior atrial rim were observed in recent years.However,no studies suggested that absence of the residual posterior atrial septal tissue might be the key feature of SVD.The aims of this study were to investigate if absence of posterior rim of atrial septum played a crucial role in patients with SVD.Methods:From January 2011 to December 2019,256 children with PAPVC combined ASD and 878 children with isolated ASD who underwent corrective cardiac surgery were consecutively enrolled.Comprehensive review of preoperative transthoracic echocardiography,computed-tomography images and surgical findings were performed by experienced pediatric cardiologists.The subtypes of PAPVC,locations and types of ASD,and presence of posterior atrial rim of associated ASD were investigated.Results:PAPVC was right-sided in 244 children,left-sided in 6 children,and bilateral in 6 children.In PAPVC cases,ASD without posterior atrial rim existed in 226 SVD cases.ASD without posterior atrial septum only existed in cases with one or more right pulmonary veins returning to right atrium(RA)or to RA-superior vena cava junction.In cases with isolated ASD,there were 3 SVD,and the other 875 cases were secundum ASD.Conclusions:ASD without posterior atrial rims was associated with one or more right pulmonary veins returning to RA or RA-superior venous cava(SVC)junction.For SVD,the key feature is that the defect is in the posterior of the interatrial septum with no posterior septal rim,rather than adjacent to the SVC or to the inferior vena cava.

Qiming granule in treating type 2 diabetic kidney disease patients:study protocol for a randomized controlled trial

Background:Diabetic kidney disease(DKD)is a chronic renal microvascular complication associated with abnormal glucose metabolism.According to traditional Chinese medicine(TCM)theory,Qi and Yin deficiency with blood stasis(the name of TCM symptoms,its main clinical features are fatigue,dry mouth,red or pale tongue,weak pulse,etc.)is the primary TCM syndrome of DKD,and Qiming granule(QMG)is suitable for the treatment of Qi and Yin deficiency with blood stasis syndrome.In view of this,we designed a randomized controlled trial to assess whether QMG is efficacious and safe in treating DKD patients.Methods:This protocol is for a randomized,double-blind,placebo-controlled,parallel group,six-centre clinical trial.A total of 180 participants will be randomized into the QMG group or placebo group,with a 1:1 ratio.The study will last for 50 weeks,including a 2-week run-in period,24 weeks of intervention,and 24 weeks of follow-up.The experimental intervention will be QMG,and the control intervention will be a placebo.The primary outcome will be the 24h urinary albumin excretion ratio and the change in the albumin-to-creatinine ratio.The secondary outcome will be evaluation of renal function,fundus changes,management of blood lipids,TCM symptom improvement and safety assessments.Adverse events will be recorded during the trial.Discussion:This study is a randomized controlled trial to test the effectiveness and safety of QMG for DKD patients.The findings of this study will help to provide evidence-based recommendations in treating DKD patients.Trial registration:Chinese Clinical Trial Registry,ChiCTR-TRC-12002953.Registered 23 December 2012.

围产期护理缺失量表的汉化及信效度检验

目的翻译围产期护理缺失量表,并对其进行信度和效度检验,为国内开展围产期护理缺失的量性研究提供可靠的测评工具。方法采用美国矫形外科医师学会循证医学委员会推荐的跨文化调试量表指南对英文版围产期护理缺失量表进行翻译、回译-文化调适及内容验证,形成中文版围产期护理缺失量表,并通过横断面研究验证其信效度。于2023年2月至4月采用便利抽样法,选取西南地区14所不同级别医院491名助产士进行问卷调查。采用项目分析检验中文版量表条目的鉴别度,采用探索性和验证性因子分析评价量表的结构效度,采用内容效度指数和Cronbach'sa系数评价内容效度和信度。结果围产期护理缺失.量表包括A、B两部分。中文版围产期护理缺失量表A部分的项目-总量表相关系数为0.641 -0.866, B部分为0.644~0.819(P<0.01)。A部分和B部分的量表水平内容效度指数均为0.95,条目水平内容效度指数为0.86~1.00。探索性因子分析分别提取了A部分(必要性护理、基本护理和产后护理)和B部分(沟通、人力资源和物质资源)各3个因子,占总方差的70.186%和71.984%。量表A、B部分的Cronbach's a系数分别为0.968、0.940。结论中文版围产期护理缺失量表具有良好的信度和效度,可作为国内评价围产期护理缺失情况和相关原因的工具。未来需要进行更大样本量的研究,以验证该工具在中国本土的适用性。

LncRNAs are involved in regulating ageing and age-related disease through the adenosine monophosphate-activated protein kinase signalling pathway

A long noncoding RNA(lncRNA)is longer than 200 bp.It regulates various biological processes mainly by interacting with DNA,RNA,or protein in multiple kinds of biological processes.Adenosine monophosphate-activated protein kinase(AMPK)is activated during nutrient starvation,especially glucose starvation and oxygen deficiency(hypoxia),and exposure to toxins that inhibit mitochondrial respiratory chain complex function.AMPK is an energy switch in organisms that controls cell growth and multiple cellular processes,including lipid and glucose metabolism,thereby maintaining intracellular energy homeostasis by activating catabolism and inhibiting anabolism.The AMPK signalling pathway consists of AMPK and its upstream and downstream targets.AMPK upstream targets include proteins such as the transforming growth factor b-activated kinase 1(TAK1),liver kinase B1(LKB1),and calcium/calmodulindependent protein kinase b(CaMKKb),and its downstream targets include proteins such as the mechanistic/mammalian target of rapamycin(mTOR)complex 1(mTORC1),hepatocyte nuclear factor 4a(HNF4a),and silencing information regulatory 1(SIRT1).In general,proteins function relatively independently and cooperate.In this article,a review of the currently known lncRNAs involved in the AMPK signalling pathway is presented and insights into the regulatory mechanisms involved in human ageing and age-related diseases are provided.

Phase I clinical trial of intracerebral injection of lentiviral-ABCD1 for the treatment of cerebral adrenoleukodystrophy

This was a single-arm,multicenter,open-label phase I trial.Lentiviral vectors(LV)carrying the ABCD1 gene(LV-ABCD1)was directly injected into the brain of patients with childhood cerebral adrenoleukodystrophy(CCALD),and multi-site injection was performed.The injection dose increased from 200 to 1600 lL(vector titer:1×10^(9) transduction units per mL(TU/mL)),and the average dose per kilogram body weight ranges from 8 to 63.6 lL/kg.The primary endpoint was safety,dose-exploration and immunogenicity and the secondary endpoint was initial evaluation of efficacy and the expression of ABCD1 protein.A total of 7 patients participated in this phase I study and were followed for 1 year.No injectionrelated serious adverse event or death occurred.Common adverse events associated with the injection were irritability(71%,5/7)and fever(37.2-38.5℃,57%,4/7).Adverse events were mild and selflimited,or resolved within 3 d of symptomatic treatment.The maximal tolerable dose is 1600 lL.In 5 cases(83.3%,5/6),no lentivirus associated antibodies were detected.The overall survival at 1-year was 100%.The ABCD1 protein expression was detected in neutrophils,monocytes and lymphocytes.This study suggests that the intracerebral injection of LV-ABCD1 for CCALD is safe and can achieve successful LV transduction in vivo;even the maximal dose did not increase the risk of adverse events.Furthermore,the direct LV-ABCD1 injection displayed low immunogenicity.In addition,the effectiveness of intracerebral LV-ABCD1 injection has been preliminarily demonstrated while further investigation is needed.This study has been registered in the Chinese Clinical Trial Registry(https://www.chictr.org.cn/,registration number:ChiCTR1900026649).

MALAT1-mediated EZH2 Recruitment to the GFER Promoter Region Curbs Normal Hepatocyte Proliferation in Acute Liver Injury

Background and Aims:The goal of this study was to investigate the mechanism by which the long noncoding RNA MALAT1 inhibited hepatocyte proliferation in acute liver injury(ALI).Methods:Lipopolysaccharide(LPS)was used to induce an ALI cellular model in HL7702 cells,in which lentivirus vectors containing MALAT1/EZH2/GFER overexpression or knockdown were introduced.A series of experiments were performed to determine their roles in liver injury,oxidative stress injury,and cell biological processes.The interaction of MALAT1 with EZH2 and enrichment of EZH2 and H3K27me3 in the GFER promoter region were identified.Rats were treated with MALAT1 knockdown or GFER overexpression before LPS induction to verify the results derived from the in vitro assay.Results:MALAT1 levels were elevated and GFER levels were reduced in ALI patients and the LPS-induced cell model.MALAT1 knockdown or GFER overexpression suppressed cell apoptosis and oxidative stress injury induced cell proliferation,and reduced ALI.Functionally,MALAT1 interacted directly with EZH2 and increased the enrichment of EZH2 and H3K27me3 in the GFER promoter region to reduce GFER expression.Moreover,MALAT1/EZH2/GFER was activated the AMPK/mTOR signaling pathway.Conclusion:Our study highlighted the inhibitory role of reduced MALAT1 in ALI through the modulation of EZH2-mediated GFER.

Artificial womb:a paradigm shift for saving extremely premature infants

To the Editor:Approximately 15 million preterm babies,i.e.,those delivered at<37 weeks of gestational age(GA),are born globally every year,and of them,0.4%are extremely premature infants(EPIs),i.e.,those delivered at<28 weeks of GA.^([1])Iterations of neonatal care have significantly extended the viability of preterm babies.However,improved viability is accompanied by an increased risk of unreversed injuries,such as bronchopulmonary dysplasia and intraventricular hemorrhage.Therefore,a more physiological simulating in utero status is needed to protect EPIs’immature organs during the transitional period and ensure that they develop in the same manner that they would have in the womb.

High‑Resolution and Multidimensional Phenotypes Can Complement Genomics Data to Diagnose Diseases in the Neonatal Population

Advances in genomic medicine have greatly improved our understanding of human diseases.However,phenome is not well understood.High-resolution and multidimensional phenotypes have shed light on the mechanisms underlying neonatal diseases in greater details and have the potential to optimize clinical strategies.In this review,we first highlight the value of analyzing traditional phenotypes using a data science approach in the neonatal population.We then discuss recent research on high-resolution,multidimensional,and structured phenotypes in neonatal critical diseases.Finally,we briefly introduce current technologies available for the analysis of multidimensional data and the value that can be provided by integrating these data into clinical practice.In summary,a time series of multidimensional phenome can improve our understanding of disease mechanisms and diagnostic decision-making,stratify patients,and provide clinicians with optimized strategies for therapeutic intervention;however,the available technologies for collecting multidimensional data and the best platform for connecting multiple modalities should be considered.

Efficacy and safety of human chorionic gonadotropin combined with human menopausal gonadotropin and a gonadotropin-releasing hormone pump for male adolescents with congenital hypogonadotropic hypogonadism

Background:Compared to adult studies,studies which involve the treatment of pediatric congenital hypogonadotropic hypogonadism(CHH)are limited and no universal treatment regimen is available.The aim of this study was to evaluate the feasibility of human chorionic gonadotropin(hCG)/human menopausal gonadotropin(hMG)therapy for treating male adolescents with CHH.Methods:Male adolescent CHH patients were treated with hCG/hMG(n=20)or a gonadotropin-releasing hormone(GnRH)pump(n=21).The treatment was divided into a study phase(0-3 months)and a follow-up phase(3-12 months).The testicular volume(TV),penile length(PL),penis diameter(PD),and sex hormone levels were compared between the two groups.The TV and other indicators between the groups were analyzed using a t-test(equal variance)or a rank sum test(unequal variance).Results:Before treatment,there was no statistical difference between the two groups in terms of the biochemistry,hormones,and other demographic indicators.After 3 months of treatment,the TV of the hCG/hMG and GnRH groups increased to 5.1±2.3 mL and 4.1±1.8 mL,respectively;however,the difference was not statistically significant(P>0.05,t=1.394).The PL reached 6.9±1.8 cm and 5.1±1.6 cm(P<0.05,t=3.083),the PD reached 2.4±0.5 cm and 2.0±0.6 cm(P<0.05,t=2.224),respectively,in the two groups.At the end of 6 months of treatment,biomarkers were in normal range in the two groups.Compared with the GnRH group,the testosterone(T)level and growth of PL and PD were significantly greater in the hCG/hMG group(all P<0.05).While the TV of both groups increased,the difference was not statistically significant(P>0.05,t=0.314).After 9 to 12 months of treatment,the T level was higher in the hCG/hMG group.Other parameters did not exhibit a statistical difference.Conclusions:The hCG/hMG regimen is feasible and effective for treating male adolescents with CHH.The initial 3 months of treatment may be a window to optimally observe the strongest effects of therapy.Furthermore,results from the extended time-period showed positive outcomes at the 1-year mark;however,the long-term effectiveness,strengths,and weaknesses of the hCG/hMG regimen require further research.Trial Registration:ClinicalTrials.gov,NCT02880280;https://clinicaltrials.gov/ct2/show/NCT02880280.

PGC-1α promotes mitochondrial respiration and biogenesis during the differentiation of hiPSCs into cardiomyocytes

Although it is widely accepted that human induced pluripotent stem cell-derived cardiomyocytes(hiPSC-CMs)are readily available,robustly reproducible,and physiologically appropriate human cells for clinical applications and research in the cardiovascular field,hiPSC-CMs cultured in vitro retain an immature metabolic phenotype that limits their application,and little is known about the underlying molecular mechanism controlling mitochondrial metabolic maturation during human induced pluripotent stem cells(hiPSCs)differentiation into cardiomyocytes.In this study,we found that peroxisome proliferator-activated receptor g coactivator-1α(PGC-1α)played an important role in inducing mitochondrial biogenesis and establishing oxidative phosphorylation(OXPHOS)during the cardiac differentiation of hiPSCs.Knocking down PGC-1α by siRNA impaired mitochondrial respiration,while upregulating PGC-1α by ZLN005 promoted mitochondrial biosynthesis and function by regulating the expression of downstream genes involved in mitochondrial dynamics and oxidative metabolism in hiPSCCMs.Furthermore,we found that estrogen-related receptor a(ERRa)was required for the induction of PGC-1α stimulatory effects in hiPSC-CMs.These findings provide key insights into the molecular control of mitochondrial metabolism during cardiac differentiation and may be used to generate more metabolically mature cardiomyocytes for application.

Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for b-thalassaemia in Sichuan Province (Southwestern China)

The incidence of haemoglobinopathy is high in China,especially south of the Yangtze River.However,the exact status of haemoglobinopathy in Sichuan is unknown.To carry out a detailed research of haemoglobinopathy in individuals living in Sichuan,13,298 subjects without clinical symptoms who were living in Sichuan Province,with an age distribution of 5e73 years,were included in this study.Between March 2014 and July 2017,these subjects received examinations at the Medical Lab of Chengdu Women’s&Children’s Central Hospital.Mean corpuscular volume(MCV)<82 fL or mean corpuscular haemoglobin(MCH)<27 pg was used to indicate haemoglobinopathy carriers.Abnormal haemoglobin was screened by electrophoresis,and genes were sequenced to identify genotypes.Genotype diagnosis of alpha-and beta-thalassaemia was carried out by using PCR and shunt hybridization.There were 638 suspected haemoglobinopathy carriers(4.80%,638/13,298).DNA sequencing identified 6 subjects with abnormal haemoglobin genotypes and 15 subjects with Hb E.The frequency of heterozygosity for thalassaemia was 4.12%(1.48%for α-thalassaemia and 2.61%for β-thalassaemia)in Sichuan Province.The mutation spectrum of α-thalassaemia consisted of the five most common mutations:–^(SEA),-α^(3.7),-α^(4.2),α^(CS),and α^(QS).Seven types of β-thalassaemia mutation were found in this study:CD41-42(-TTCT)was the most frequent(28.47%),followed by 17(A>T),28(A>G),and IVS-Ⅱ-654(C>T).The main abnormal haemoglobin genotype(HbE)and thalassaemia genotype(–^(SEA),CD41-42(-TTCT))were consistent with those in other regions of China,but the carrier rate of β-thalassaemia in Sichuan was higher than that of α-thalassaemia.

Comprehensive biological function analysis of lncRNAs in hepatocellular carcinoma

Thousands of long non-coding RNAs(lncRNAs)have been discovered in human genomes by gene chip,next-generation sequencing,and/or other methods in recent years,which represent a significant subset of the universal genes involved in a wide range of biological functions.An abnormal expression of lncRNAs is associated with the growth,invasion,and metastasis of various types of human cancers,including hepatocellular carcinoma(HCC),which is an aggressive,highly malignant,and invasive tumor,and a poor prognosis in China.With a more in-depth understanding of lncRNA research for HCC and the emergence of new moleculartargeted therapies,the diagnosis,treatment,and prognosis of HCC will be considerably improved.Therefore,this review is expected to provide recommendations and directions for future lncRNA research for HCC.