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1.
Clin Transl Immunology ; 13(3): e1498, 2024.
Article in English | MEDLINE | ID: mdl-38481614

ABSTRACT

Objectives: For children with Kawasaki disease (KD) at high risk of developing coronary artery lesions and requiring retreatment with intravenous immunoglobulin (IVIG), the availability of accurate prediction models remains limited because of inconsistent variables and unsatisfactory prediction results. We aimed to construct models to predict patient's probability of IVIG retreatment combining children's individual inflammatory characteristics. Methods: Clinical manifestations and laboratory examinations of 266 children with KD were retrospectively analysed to build a development cohort data set (DC) and a validation cohort data set (VC). In the DC, binary logistic regression analyses were performed using R language. Nomograms and receiver operating curves were plotted. The concordance index (C index), net reclassification index, integrated discrimination improvement index and confusion matrix were applied to evaluate and validate the models. Results: Models_5V and _9V were established. Both contained variables including the percentages of CD8+ T cells, CD4+ T cells, CD3+ T cells, levels of interleukin (IL)-2R and CRP. Model_9V additionally included variables for IL-6, TNF-α, NT-proBNP and sex, with a C index of 0.86 (95% CI 0.79-0.92). When model_9V was compared with model_5V, the NRI and IDI were 0.15 (95% CI 0.01-0.30, P < 0.01) and 0.07 (95% CI 0.02-0.12, P < 0.01). In the VC, the sensitivity, specificity and precision of model_9V were 1, 0.875 and 0.667, while those of model_5V were 0.833, 0.875 and 0.625. Conclusion: Model_9V combined cytokine profiles and lymphocyte subsets with clinical characteristics and was superior to model_5V achieving satisfactory predictive power and providing a novel strategy early to identify patients who needed IVIG retreatment.

2.
BMC Med ; 22(1): 27, 2024 02 06.
Article in English | MEDLINE | ID: mdl-38317125

ABSTRACT

BACKGROUND: New "noncardiac" problems in children with congenital heart disease (CHD), such as developmental delay or long-term neurodevelopmental impairments, have attracted considerable attention in recent years. It is hypothesized that exercise might attenuate CHD-associated neurodevelopmental impairments; however, this has not been thoroughly investigated. The objective of this prospective, single-blinded, randomized controlled experiment was to evaluate the impact of customized home-based exercise for children with CHD. METHODS: Children aged 0-5 years with echocardiography-confirmed simple CHD subtypes who were scheduled to undergo cardiac catheterization were screened for enrolment. Among 420 screened CHD children, 192 were enrolled and randomly assigned at a 1:1 ratio to receive a 6-month intervention (30 min daily customized home-based exercise program with supervision for no less than 5 days per week, combined with home-based exercise education) or control treatment (home-based education). The primary outcome was motor development (gross motor quotient (GMQ), fine motor quotient (FMQ), and total motor quotient (TMQ)). The secondary outcomes were cardiac function and structure, bone quality, physical development, parental anxiety, caregiver burden, and quality of life. Children and their families were assessed before and 1, 3, and 6 months after catheterization; 183 (95.3%) children were included in the primary analysis. RESULTS: After 6-month treatment, the intervention group significantly increased their motor quotient, which was consistently higher than that of the control group (GMQ p < 0.0001, FMQ p = 0.02, TMQ p < 0.001). The physical developments in height, weight, and circumferences of the upper-arm, chest, and head were also significantly improved by exercise (all p < 0.017). No significant improvements in the bone strength or the cardiac structure and function were found among patients in the intervention group (all p > 0.017). For parents, higher quality of life level (total score p = 0.016) was observed in the intervention group; while effects of exercise on the anxiety (rude score p = 0.159, standard score p = 0.159) or the Zarit caregiver burden scale score (p = 0.404) were non-significant. No adverse events occurred during the study period. CONCLUSIONS: Customized home-based exercise improved motor development in children with CHD. While the long-term effects of parent training in home-based exercise are unknown, the study results suggest positive outcomes. TRIAL REGISTRATION: A home-based exercise program in congenital heart disease children with cardiac catheterization: a randomized controlled trial. ( http://www.chictr.org.cn/ , ChiCTR-IOR-16007762, January 14, 2016).


Subject(s)
Heart Defects, Congenital , Psychological Tests , Quality of Life , Self Report , Child , Humans , Prospective Studies , Heart Defects, Congenital/therapy , Parents
3.
BMC Med Genomics ; 17(1): 52, 2024 Feb 14.
Article in English | MEDLINE | ID: mdl-38355637

ABSTRACT

BACKGROUND: Despite the advancements in heart failure(HF) research, the early diagnosis of HF continues to be a challenging issue in clinical practice. This study aims to investigate the genes related to myocardial fibrosis and conduction block, with the goal of developing a diagnostic model for early treatment of HF in patients. METHOD: The gene expression profiles of GSE57345, GSE16499, and GSE9128 were obtained from the Gene Expression Omnibus (GEO) database. After merging the expression profile data and adjusting for batch effects, differentially expressed genes (DEGs) associated with conduction block and myocardial fibrosis were identified. Gene Ontology (GO) resources, Kyoto Encyclopedia of Genes and Genomes (KEGG) resources, and gene set enrichment analysis (GSEA) were utilized for functional enrichment analysis. A protein-protein interaction network (PPI) was constructed using a string database. Potential key genes were selected based on the bioinformatics information mentioned above. SVM and LASSO were employed to identify hub genes and construct the module associated with HF. The mRNA levels of TAC mice and external datasets (GSE141910 and GSE59867) are utilized for validating the diagnostic model. Additionally, the study explores the relationship between the diagnostic model and immune cell infiltration. RESULTS: A total of 395 genes exhibiting differential expression were identified. Functional enrichment analysis revealed that these specific genes primarily participate in biological processes and pathways associated with the constituents of the extracellular matrix (ECM), immune system processes, and inflammatory responses. We identified a diagnostic model consisting of 16 hub genes, and its predictive performance was validated using external data sets and a transverse aortic coarctation (TAC) mouse model. In addition, we observed significant differences in mRNA expression of 7 genes in the TAC mouse model. Interestingly, our study also unveiled a correlation between these model genes and immune cell infiltration. CONCLUSIONS: We identified sixteen key genes associated with myocardial fibrosis and conduction block, as well as diagnostic models for heart failure. Our findings have significant implications for the intensive management of individuals with potential genetic variants associated with heart failure, especially in the context of advancing cell-targeted therapy for myocardial fibrosis.


Subject(s)
Heart Failure , Humans , Animals , Mice , Heart Failure/diagnosis , Heart Failure/genetics , Gene Expression Profiling , Computational Biology , Disease Models, Animal , Fibrosis , RNA, Messenger
4.
Pediatr Res ; 95(1): 227-232, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37580551

ABSTRACT

BACKGROUND: children who undergo CPB operations are at an elevated risk of infection due to immunosuppression. This study aims to investigate the association between lymphopenia following CPB and early postoperative infection in children. METHODS: A retrospective analysis including 41 children under 2 years old underwent CPB. Among them, 9 subjects had an early postoperative infection, and 32 subjects were period-matched without infection. Inflammatory cytokines, serum CRP and PCT values were measured in plasma, additionally, circulating total leucocyte and lymphocyte subpopulations were counted. RESULTS: Infected subjects exhibited significantly higher levels of inflammatory cytokines, including IL-6, IL-8, IL-10, IL-1ß and TNF-α, than non-infected subjects after CPB. Additionally, lower absolute number of lymphocyte and their subpopulations CD3+ T cells, CD4+ T-helper cells and CD8+cytotoxic T-cells, were observed in infected subjects. The impairment of T-cells Immune was found to be associated with higher levels of inflammatory cytokines IL-10. The ROC demonstrated that the absolute number of CD3+ T-cells <1934/ul, CD4+ T helper cells <1203/ul and CD8+cytotoxic T-cells <327/ul were associated with early postoperative infection. CONCLUSION: Higher levels of inflammatory cytokines resulted in T-cells lymphopenia after CPB, which significantly increasing the risk of postoperative infection in infants and young children. IMPACT: Infection complications after cardiopulmonary bypass (CPB) in pediatric CHD patients are serious issues, identifing the infection from after CPB remains a challenging. CPB can release numerous inflammatory cytokines associated with T cells lymphopenia, which increases the risk of postoperative infection after surgery. Monitoring T cells lymphopenia maybe more beneficial to predict early postoperative infection than C-reactive protein and procalcitonin.


Subject(s)
Cardiopulmonary Bypass , Lymphopenia , Infant , Humans , Child , Child, Preschool , Cardiopulmonary Bypass/adverse effects , Interleukin-10 , Retrospective Studies , Cytokines , T-Lymphocytes , Lymphopenia/etiology
5.
Chemosphere ; 349: 140828, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38040257

ABSTRACT

Kawasaki disease (KD) is an acute, systemic vasculitis that primarily affects children aged under the age of 5. While environmental factors have been linked to the development of KD, the specific role of ozone (O3) pollution in triggering the disease onset remains uncertain. This study aimed to examine the associations between short-term O3 exposure and KD onset in children. Utilizing a satellite-based model with a spatial resolution of 1 × 1 km, we matched 1808 KD patients (out of a total of 6115 eligible individuals) to pre-onset ozone exposures based on their home addresses in East China between 2013 and 2020. Our findings revealed a significant association of O3 exposure with KD onset on the day of onset (lag 0 day). However, this association attenuated and became statistically insignificant on lag 1 and lag 2 days. Each interquartile range (52.32 µg/m3) increase in O3 concentration at lag 0 day was associated with a 16.2% (95% CI: 3.6%, 30.3%) increased risk of KD onset. The E-R curve for O3 exhibited a plateau at low concentrations and then increased rapidly at concentrations ≥75 µg/m3. Notably, these associations were stronger in male children, younger children (<2 years of age) and patients experiencing KD onset during the warm season. This study provides novel epidemiological evidence indicating that short-term O3 exposure is associated with an increased risk of childhood KD onset. These findings emphasized the importance of considering this environmental risk factor in KD prevention strategies.


Subject(s)
Air Pollutants , Air Pollution , Mucocutaneous Lymph Node Syndrome , Ozone , Child , Humans , Male , Child, Preschool , Ozone/analysis , Air Pollution/analysis , Air Pollutants/toxicity , Air Pollutants/analysis , Cross-Over Studies , Mucocutaneous Lymph Node Syndrome/chemically induced , Mucocutaneous Lymph Node Syndrome/epidemiology , Environmental Exposure/adverse effects , Environmental Exposure/analysis , China/epidemiology , Particulate Matter/analysis
6.
ACS Nano ; 17(24): 25037-25044, 2023 Dec 26.
Article in English | MEDLINE | ID: mdl-38096421

ABSTRACT

Graphene possesses an exotic band structure that spans a wide range of important technological wavelength regimes for photodetection, all within a single material. Conventional methods aimed at enhancing detection efficiency often suffer from an extended response time when the light is switched off. The task of achieving ultrafast broad-band photodetection with a high gain remains challenging. Here, we propose a devised architecture that combines graphene with a photosensitizer composed of an alternating strip superstructure of WS2-WSe2. Upon illumination, n+-WS2 and p+-WSe2 strips create alternating electron- and hole-conduction channels in graphene, effectively overcoming the tradeoff between the responsivity and switch time. This configuration allows for achieving a responsivity of 1.7 × 107 mA/W, with an extrinsic response time of 3-4 µs. The inclusion of the superstructure booster enables photodetection across a wide range from the near-ultraviolet to mid-infrared regime and offers a distinctive photogating route for high responsivity and fast temporal response in the pursuit of broad-band detection.

7.
Environ Health ; 22(1): 72, 2023 10 19.
Article in English | MEDLINE | ID: mdl-37858165

ABSTRACT

BACKGROUND: Humans are widely exposed to perfluoroalkyl substances (PFAS), which have been found to be associated with various adverse birth outcomes. As blood pressure (BP) is an important parameter reflecting cardiovascular health in early life, it is necessary to investigate the association of PFAS exposure during early lifetime and BP in childhood. Therefore, we investigated the potential association between PFAS levels in umbilical cord blood and BP of the offspring at 4 years of age in a prospective cohort study. METHODS: PFAS in umbilical cord blood samples after birth were measured with high-performance liquid chromatography/tandem mass spectrometry in the Shanghai Birth Cohort. BP was measured at 4 years of age in the offspring. Multiple linear regression model was used to investigate the association between individual PFAS level and BP of the offspring. Bayesian kernel machine regression (BKMR) was used to analyze the relationship between the PFAS mixture and BP of the offspring, while weighted quantile sum (WQS) regression was utilized for sensitivity analysis. RESULTS: A total of 129 mother-child pairs were included in our analysis. In multiple linear regressions, we observed that long-chain PFAS, mainly including perfluorooctane sulfonate (PFOS), perfluorodecanoic acid (PFDA) and perfluoroundecanoic acid (PFUA), was negatively associated with systolic blood pressure (SBP), diastolic blood pressure (DBP) and mean arterial blood pressure (MAP). BKMR showed that an increase in umbilical cord blood PFAS mixture levels was significantly associated with a decrease in SBP, DBP and MAP [Estimated differences (SD): -0.433 (0.161); -0.437 (0.176); -0.382 (0.179), respectively]. The most important component in the association with SBP, DBP, and MAP was PFUA. PFDoA was found to be positively associated with SBP, DBP and MAP in both models. Sensitivity analysis with WQS regression showed consistent results. CONCLUSION: Our findings suggested that umbilical blood PFAS exposure was negatively associated with BP in offspring at 4 years of age, including SBP, DBP, and MAP.


Subject(s)
Alkanesulfonic Acids , Environmental Pollutants , Fluorocarbons , Humans , Blood Pressure , Prospective Studies , Fetal Blood , Bayes Theorem , China/epidemiology
8.
Genomics ; 115(5): 110676, 2023 09.
Article in English | MEDLINE | ID: mdl-37406974

ABSTRACT

OBJECTIVE: Deleterious genetic variants comprise one cause of cardiac conotruncal defects (CTDs). Genes associated with CTDs are gradually being identified. In the present study, we aimed to explore the profile of genetic variants of CTD-associated genes in Chinese patients with non-syndromic CTDs. METHODS: Thirty-nine CTD-related genes were selected after reviewing published articles in NCBI, HGMD, OMIM, and HPO. In total, 605 patients with non-syndromic CTDs and 300 healthy controls, all of Han ethnicity, were recruited. High-throughput targeted sequencing was used to detect genetic variants in the protein-coding regions of genes. We performed rigorous variant-level filtrations to identify potentially damaging variants (Dvars) using prediction programs including CADD, SIFT, PolyPhen-2, and MutationTaster. RESULT: Dvars were detected in 66.7% (26/39) of the targeted CTD-associated genes. In total, 11.07% (67/605) of patients with non-syndromic CTDs were found to carry one or more Dvars in targeted CTD-associated genes. Dvars in FOXH1, TBX2, NFATC1, FOXC2, and FOXC1 were common in the CTD cohort (1.5% [9/605], 1.2% [7/605], 1.2% [7/605], 1% [6/605], and 0.5% [3/605], respectively). CONCLUSION: Targeted exon sequencing is a cost-effective approach for the genetic diagnosis of CTDs. Our findings contribute to an understanding of the genetic architecture of non-syndromic CTDs.


Subject(s)
East Asian People , Heart Defects, Congenital , Child , Humans , East Asian People/genetics , Ethnicity , Heart Defects, Congenital/genetics , Transcription Factors
9.
iScience ; 26(7): 107182, 2023 Jul 21.
Article in English | MEDLINE | ID: mdl-37456837

ABSTRACT

Wing polyphenism is found in a variety of insects and offers an attractive model system for studying the evolutionary significance of dispersal. The Forkhead box O (FoxO) transcription factor (TF) acts as a wing-morph switch that directs wing buds developing into long-winged (LW) or short-winged morphs in wing-dimorphic planthoppers, yet the regulatory mechanism of the FoxO module remains elusive. Here, we identified the zinc finger TF rotund as a potential wing-morph regulator via transcriptomic analysis and phenotypic screening in the brown plathopper, Nilaparvata lugens. RNA interference-mediated knockdown of rotund antagonized the LW development derived from in the context of FoxO depletion or the activation of the insulin/insulin-like growth factor signaling cascade, reversing long wings into intermediate wings. In vitro binding assays indicated that rotund physically binds to FoxO to form the FoxO combinatorial code. These findings broaden our understanding of the complexity of transcriptional regulation governing wing polyphenism in insects.

10.
Chin Med J (Engl) ; 2023 Jul 24.
Article in English | MEDLINE | ID: mdl-37488672

ABSTRACT

BACKGROUND: Intrauterine valvuloplasty is an innovative therapy, which promotes ventricular growth and function in some congenital heart diseases (CHDs). The technique remains challenging and can only be performed in a few centers. This study aimed to assess the feasibility and mid-term outcomes of fetal cardiac intervention (FCI) in fetuses with critical CHD in an experienced tertiary center. METHODS: Five fetal aortic valvuloplasty (FAV) or fetal pulmonary valvuloplasty (FPV) procedures were performed in our fetal heart center between August 2018 and May 2022. Technical success was defined as crossing the aortic or pulmonary valve and balloon inflation, followed by evidence of increased blood flow across the valve and/or new regurgitation. Follow-up clinical records and echocardiography were obtained during the prenatal and postnatal periods. RESULTS: Five fetuses received FAV or FPV, including critical aortic stenosis (n = 2) and pulmonary atresia with intact ventricular septum (n = 3). The mean maternal age was 33.0 ± 2.6 years. The median gestational age (GA) at diagnosis was 24 weeks (range, 22-26 weeks). The median GA at intervention was 29 weeks (range, 28-32 weeks). All five cases underwent successful or partially successful procedures. One patient had pulmonary valve perforation without balloon dilation. No procedure-related deaths or significant complications occurred. However, one neonatal death occurred due to heart and renal failure. The median follow-up period was 29.5 months (range, 8.0-48.0 months). The four surviving patients had achieved biventricular circulation, exhibited improved valve, and ventricular development at the last follow-up visit. CONCLUSION: Intrauterine FCI could be performed safely with good prognosis in critical CHD.

11.
Front Pediatr ; 11: 1165972, 2023.
Article in English | MEDLINE | ID: mdl-37215606

ABSTRACT

Objectives: Congenital ventricular aneurysms or diverticulum (VA/VD) are rare cardiac anomalies with lack prenatal evaluation data. The present study aimed to provide the prenatal characteristics and outcomes from a tertiary center and the use of new techniques to evaluate the shape and contractility of these fetuses. Methods: Ten fetuses were diagnosed with VA or VD, and 30 control fetuses were enrolled. Fetal echocardiography was performed to make the diagnosis. The prenatal echo characteristics and follow-up data were carefully reviewed. The shape and contractility measurements of the four-chamber view (4CV) and both ventricles were measured and computed using fetal fetal heart quantification (HQ). Results: A total of 10 fetuses were enrolled, including 4 cases of left ventricular diverticulum, 5 cases of left ventricular aneurysm, and 1 case of right ventricular aneurysm (RVA). Four cases chose to terminate the pregnancy. The RVA was associated with a perimembranous ventricular septal defect. Two cases had fetal arrhythmia, and one case had pericardial effusion. After birth, one case underwent surgical resection at five years old. The 4CV global sphericity index (SI) of free-wall located ventricular outpouching (VO) was significantly lower than the apical ones and the control group (p < 0.01). Four of five apical left VOs had significant higher (>95th centile) SI in base segments, and three of four left VOs in the free-wall had significant lower (< 5th centile) SI in the majority of 24 segments. Compared to the control group, the left ventricle (LV) global longitudinal strain, ejection fraction, and fractional area change were significantly decreased (p < 0.01), while the LV cardiac output of the cases was in the normal range. The transverse fraction shortening of the affected segments of ventricles was significantly lower than the other ventricle segments (p < 0.01). Conclusions: Fetal HQ is a promising technique to evaluate the shape and contractility of congenital ventricular aneurysm and diverticulum.

12.
BMC Med ; 21(1): 103, 2023 03 20.
Article in English | MEDLINE | ID: mdl-36941582

ABSTRACT

BACKGROUND: Current evidence relating birthweight and gestational age to cardiovascular risk is conflicting. Whether these factors have independent or interactive impacts on cardiovascular parameters during early childhood remains unclear. The goal of this study was to explore whether there were any independent and interactive effects of gestational age and birthweight on blood pressure, left ventricle (LV) structure, and function in 4 years old. METHODS: This study included 1194 children in the Shanghai Birth Cohort from 2013 to 2016. Information about the mothers and children was recorded at time of birth using a questionnaire. Follow-up measurements, including anthropometric, blood pressure, and echocardiography, were taken between 2018 and 2021, when the children were 4 years old. Multiple linear or logistic regressions and restricted cubic spline were used to explore the association of birthweight and gestational age with cardiovascular measurements. RESULTS: Gestational age had a significant negative correlation with both systolic blood pressure [ß = - 0.41, 95% CI: (- 0.76, - 0.07)] and mean arterial pressure [ß = - 0.36, 95%CI: (- 0.66, - 0.07)]. The risk of prehypertension decreased with increased gestational age [OR = 0.54, 95% CI: (0.32, 0.93)]. The relationship between birthweight with blood pressure was U-shape (P for non-linear < 0.001). The wall thickness, volume, mass, and cardiac output of LV increased with birthweight, though the ejection fraction [ß = - 1.02, 95% CI: (- 1.76, - 0.27)] and shorten fraction [ß = 0.72, 95% CI: (- 1.31, - 0.14)] decreased with birthweight. The risk of LV hypertrophy was not associated with birthweight [OR = 1.59, 95% CI: (0.68, 3.73)]. CONCLUSIONS: In this study, we found different associations of birthweight and gestational age with cardiovascular measurements in the offspring at 4 years old. Gestational age influenced blood pressure independent of birthweight. Heart size and function at 4 years old was influenced mostly by birthweight and not by gestational age.


Subject(s)
Birth Weight , Child , Female , Humans , Child, Preschool , Blood Pressure , Cohort Studies , Gestational Age , Prospective Studies , China
13.
Environ Int ; 173: 107748, 2023 03.
Article in English | MEDLINE | ID: mdl-36848830

ABSTRACT

BACKGROUND: High maternal plasma perfluoroalkyl substances (PFAS) concentrations has been associated with adverse birth outcomes, but data on early childhood cardiovascular health is limited. This study aimed to assess the potential association between maternal plasma PFAS concentrations during early pregnancy and cardiovascular development in offspring. MATERIAL AND METHODS: Cardiovascular development was assessed through blood pressure measurement, echocardiography and carotid ultrasound examinations among 957 children from the Shanghai Birth Cohort aged at 4 years old. Maternal plasma concentrations of PFAS were measured at mean gestational age of 14.4 (SD:1.8) weeks. The joint associations between PFAS mixture concentrations and cardiovascular parameters were analyzed using a Bayesian kernel machine regression (BKMR). The potential association of individual PFAS chemicals concentrations was explored using multiple linear regression. RESULTS: In BKMR analyses, carotid intima media thickness (cIMT), interventricular septum thickness in diastole and systole, posterior wall thicknesses in diastole and systole, and relative wall thickness were significantly lower when all log10-transformed PFAS were fixed at 75th percentile in comparison to at their 50th percentile[Estimated overall Risk:-0.31 (95%CI: -0.42, -0.20), -0.09 (95%CI: -0.11, -0.07), -0.21 (95%CI: -0.26, -0.16), -0.09 (95%CI: -0.11, -0.07), -0.07 (95%CI: -0.10, -0.04) and -0.005 (95%CI: -0.006, -0.004)].Furthermore, maternal plasma concentrations of individual short-chain PFAS was associated with a decrease in left ventricular wall thickness, intraventricular septum thickness and enlarged chamber volume, and long-chain with a decrease in cIMT. CONCLUSIONS: Our findings suggest that maternal plasma PFAS concentrations during early pregnancy was adversely associated with cardiovascular development in offspring, including thinner cardiac wall thickness and cIMT.


Subject(s)
Alkanesulfonic Acids , Environmental Pollutants , Fluorocarbons , Pregnancy , Child , Female , Humans , Child, Preschool , Aged , Infant , Maternal Exposure/adverse effects , Prospective Studies , Bayes Theorem , Carotid Intima-Media Thickness , Environmental Pollutants/adverse effects , Fluorocarbons/adverse effects , China
14.
Echocardiography ; 40(3): 244-251, 2023 03.
Article in English | MEDLINE | ID: mdl-36808139

ABSTRACT

OBJECTIVES: This study aimed to evaluate whether fetal echocardiographic parameters were predictive of the postnatal surgical treatment required for fetuses with Tetralogy of Fallot (TOF). METHODS: The fetal echocardiographic and postnatal clinical data of all cases of prenatal TOF at Xinhua Hospital from 2016 to 2020 were reviewed. Patients were categorized based on the operation type, and cardiac parameters were compared between groups. RESULTS: Of the 37 fetuses assessed, the development of the pulmonary valve annulus (PVA) was significantly poorer in the transannular patch group. Patients with a prenatal PVA z-score (Schneider's method) ≥ -2.645, a PVA z-score (Lee's method) ≥ -2.805, a PVA/aortic valve annulus diameter ratio ≥ .697, and a pulmonary annulus index ≥ .823 were more likely to undergo pulmonary valve-sparing surgery. There was a strong correlation between prenatal and postnatal PVA z-scores. The PVA growth potential was greater in the pulmonary valve-sparing surgery group. CONCLUSIONS: PVA-related parameters evaluated by fetal echocardiography can predict the type of surgical intervention required and are valuable in improving prenatal counseling in fetal cases of TOF.


Subject(s)
Cardiac Surgical Procedures , Pulmonary Valve , Tetralogy of Fallot , Female , Humans , Pregnancy , Tetralogy of Fallot/surgery , Retrospective Studies , Pulmonary Valve/diagnostic imaging , Echocardiography , Treatment Outcome
15.
Front Genet ; 14: 1075349, 2023.
Article in English | MEDLINE | ID: mdl-36816019

ABSTRACT

Atrioventricular septal defect (AVSD) is a deleterious subtype of congenital heart diseases (CHD) characterized by atrioventricular canal defect. The pathogenic genetic changes of AVSD remain elusive, particularly for copy number variation (CNV), a large segment variation of the genome, which is one of the major forms of genetic variants resulting in congenital heart diseases. In the present study, we recruited 150 AVSD cases and 100 healthy subjects as controls for whole exome sequencing (WES). We identified total 4255 rare CNVs using exon Hidden Markov model (XHMM) and screened rare CNVs by eliminating common CNVs based on controls and Database of Genomic Variants (DGV). Each patient contained at least 9 CNVs, and the CNV burden was prominently presented in chromosomes 19,22,21&16. Small CNVs (<500 kb) were frequently observed. By leveraging gene-based burden test, we further identified 20 candidate AVSD-risk genes. Among them, DYRK1A, OBSCN and TTN were presented in the core disease network of CHD and highly and dynamically expressed in the heart during the development, which indicated they possessed the high potency to be AVSD-susceptible genes. These findings not only provided a roadmap for finally unveiling the genetic cause of AVSD, but also provided more resources and proofs for clinical genetics.

16.
Pest Manag Sci ; 79(3): 1030-1039, 2023 Mar.
Article in English | MEDLINE | ID: mdl-36354196

ABSTRACT

BACKGROUND: The migratory brown planthopper (BPH), Nilaparvata lugens (Hemiptera: Delphacidae), is the most destructive pest affecting rice plants in Asia and feeds exclusively on rice. Studies have investigated the olfactory response of BPHs to the major rice volatile compounds in rice. The insect olfactory co-receptor (Orco) is a crucial component of the olfactory system and is essential for odorant detection. Functional analysis of the Orco gene in BPHs would aid in the identification of their host preference. RESULTS: We identified the BPH Orco homologue (NlOrco) by Blast searching the BPH transcriptome with the Drosophila Orco gene sequence. Spatiotemporal analysis indicated that NlOrco is first expressed in the later egg stage, and is expressed mainly in the antennae in adult females. A NlOrco-knockout line (NlOrco-/- ) was generated through clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9-mediated mutagenesis. The NlOrco-/- mutants showed no response to rice volatile compounds and consequently no host-plant preference. In addition, NlOrco-/- mutants exhibited extended nymphal duration and impaired fecundity compared with wild-type BPHs. CONCLUSION: Our findings indicated that BPHs exhibit strong olfactory responses to major rice volatile compounds and suggest that NlOrco is required for the maximal fitness of BPHs. Our results may facilitate the identification of potential target genes or chemical compounds for BPH control applications. © 2022 Society of Chemical Industry.


Subject(s)
Hemiptera , Oryza , Receptors, Odorant , Animals , Female , Fertility/genetics , Hemiptera/genetics , Mutagenesis , Oryza/genetics , Oryza/chemistry , Receptors, Odorant/genetics
17.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-981715

ABSTRACT

OBJECTIVE@#To investigate the outcome of lateral femoral notch (LFN) after early anterior cruciate ligament (ACL) reconstruction and evaluate the recovery of knee joint function after the operation.@*METHODS@#The clinical data of 32 patients who underwent early ACL reconstruction from December 2015 to December 2019 were retrospectively analyzed. The study included 18 males and 14 females, aged 16 to 54 years old, with an average age of (25.39±2.82) years. The body mass index (BMI) of the patients ranged from 20 to 30 kg/cm2, with an average of (26.15±3.09) kg/cm2. Among them, 6 cases were caused by traffic accidents, 19 by exercise, and 7 by the crush of heavy objects. MRI of all patients showed LFN depth was more than 1.5 mm after injury, and no intervention for LFN was performed during surgery. Preoperative and postoperative depth, area, and volume of LFN defects were observed by MRI data. International Cartilage Repair Society (ICRS) score, Lysholm score, Tegner activity levels, and knee injury and osteoarthritis outcome score (KOOS) were analyzed before and after the operation.@*RESULTS@#All patients were followed up from 2 to 6 years with an average of (3.28±1.12) years. There was no significant difference in the defect depth of LFN from (2.31±0.67) mm before the operation to (2.53±0.50) mm at follow-up (P=0.136). The defect area of LFN was decreased from (207.55±81.01)mm2 to (171.36±52.69)mm2 (P=0.038), and the defect volume of LFN was decreased from (426.32±176.54) mm3 to (340.86±151.54)mm3 (P=0.042). The ICRS score increased from (1.51±0.34) to (2.92±0.33) (P<0.001), the Lysholm score increased from (35.37±10.54) to (94.46±8.45) (P<0.001), and the Tegner motor score increased from (3.45±0.94) to (7.56±1.28), which was significantly higher than that of the preoperative data (P<0.001). The KOOS score of the final follow-up was 90.42±16.35.@*CONCLUSION@#With the increase of recovery time after anterior cruciate ligament reconstruction, the defect area and volume of LFN decreased gradually, but the defect depth remained unchanged. The knee joint function of the patients significantly improved. The cartilage of the LFN defect improved, but the repair effect was not good.


Subject(s)
Male , Female , Humans , Young Adult , Adult , Adolescent , Middle Aged , Anterior Cruciate Ligament Injuries/surgery , Retrospective Studies , Magnetic Resonance Imaging , Anterior Cruciate Ligament Reconstruction , Femur/surgery , Treatment Outcome , Knee Joint/surgery
18.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1015644

ABSTRACT

The phenylpropanoid pathway is one of the important pathways for synthesizing plant secondary metabolites, which can produce lignin, flavonoid, and sinapoylmalate. These compounds can not only affect the plant growth, development, and stress response, but also be used to produce perfume, pesticide, dye, medicine, feed, and biomass energy. R2R3-MYBs play important roles in regulating plant secondary metabolism, organ development, and in responding to environmental stresses. Wheat (Triticum aestivum L.) is an important food crop, but lots of straw will be produced accompanied by grain yields. Therefore, elucidating the function and regulatory mechanism of R2R3 MYBs of wheat is crucial for the effective utilization of the wheat straw. RT-PCR results showed that TaMYB1A was highly expressed in the wheat stems, and the GFP-TaMYB1A fusion protein was mainly localized in the nucleus of the N. benthamiana epidermal cells. TaMYB1A has transcriptional repressive activity in yeast cells. In this study, TaMYB1A-overexpressed transgenic Arabidopsis lines were generated to elucidate the effect of overexpression of TaMYB1A on the biosynthesis of lignin and flavonoid. Our results suggested that overexpression of TaMYB1A inhibited the plant height (P < 0. 05) and decreased the lignin (P < 0. 05) and flavonoid (P < 0. 05) biosynthesis of the transgenic Arabidopsis plants significantly. TaMYB1A could bind to the promoters of the Arabidopsis At4CL1, AtC4H, AtC3H, and AtCHS as well as the wheat Ta4CL1 and TaC4H1 revealed by yeast one-hybrid (Y1H) assasy, the transcriptional repressive effect of TaMYB1A on At4CL1, AtC4H, AtC3H, and AtCHS was confirmed by dual-luciferase reporter systems and also on Ta4CL1 and TaC4H1 by a genetic approach. Gene chip and quantitative RT-PCR (qRT-PCR) results showed that overexpression of TaMYB1A down-regulated the expression of most of the key genes involved in the phenylpropanoid metabolism and decreased the 4CL activity (P < 0. 05) of the transgenic Arabidopsis plants significantly. As suggested above, the wheat TaMYB1A belongs to the subgroup 4 R2R3 MYB transcription factors. TaMYB1A could bind to the promoters of the key genes involved in phenylpropanoid metabolism, repress their expression and negatively regulate the phenylpropanoid metabolism pathway and plant height.

19.
Chinese Journal of Stomatology ; (12): 124-130, 2023.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-970765

ABSTRACT

Fibro-osseous lesions is a class of diseases with obvious similarities in clinical manifestations and pathological features, which has been attracting the attention of clinicians and pathologists. The latest WHO 2022 Classification (5th edition) included six of these diseases (cemento-osseous dysplasia, segmental odontomaxillary dysplasia, fibrous dysplasia, juvenile trabecular ossifying fibroma, psammomatoid ossifying fibroma and familial gigantiform cementoma) in the " fibro-osseous tumours and dysplasias ", and put forward new ideas on the diagnosis and treatment of these diseases. According to the latest WHO 2022 Classification (5th edition), the clinical and pathological features, diagnosis and differential diagnosis of these six diseases were described.


Subject(s)
Humans , Fibroma, Ossifying/pathology , Diagnosis, Differential , Cementoma/pathology , Jaw Neoplasms , Facial Bones
20.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-982739

ABSTRACT

Electrode array misplacement is a rare complication of cochlear implant. This article reports an 11-year-old boy who was mistakenly implanted the cochlear electrode array into the superior semicircular canal during the initial cochlear implant. After the diagnosis was confirmed, he underwent a second cochlear implant and the electrode array were successfully implanted into the cochlea. This article conducted a systematic review of the literature on electrode array misplacement, and the causes of electrode array misplacement were analyzed from different implantation position.


Subject(s)
Male , Humans , Child , Electrodes, Implanted , Reoperation , Cochlea , Cochlear Implantation , Cochlear Implants/adverse effects , Semicircular Canals/surgery
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