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BACKGROUND: Among the neurological complications of influenza in children, the most severe is acute necrotizing encephalopathy (ANE), with a high mortality rate and neurological sequelae. ANE is characterized by rapid progression to death within 1-2 days from onset. However, the knowledge about the early diagnosis of ANE is limited, which is often misdiagnosed as simple seizures/convulsions or mild acute influenza-associated encephalopathy (IAE). OBJECTIVE: To develop and validate an early prediction model to discriminate the ANE from two common neurological complications, seizures/convulsions and mild IAE in children with influenza. METHODS: This retrospective case-control study included patients with ANE (median age 3.8 (2.3,5.4) years), seizures/convulsions alone (median age 2.6 (1.7,4.3) years), or mild IAE (median age 2.8 (1.5,6.1) years) at a tertiary pediatric medical center in China between November 2012 to January 2020. The random forest algorithm was used to screen the characteristics and construct a prediction model. RESULTS: Of the 433 patients, 278 (64.2%) had seizures/convulsions alone, 106 (24.5%) had mild IAE, and 49 (11.3%) had ANE. The discrimination performance of the model was satisfactory, with an accuracy above 0.80 from both model development (84.2%) and internal validation (88.2%). Seizures/convulsions were less likely to be wrongly classified (3.7%, 2/54), but mild IAE (22.7%, 5/22) was prone to be misdiagnosed as seizures/convulsions, and a small proportion (4.5%, 1/22) of them was prone to be misdiagnosed as ANE. Of the children with ANE, 22.2% (2/9) were misdiagnosed as mild IAE, and none were misdiagnosed as seizures/convulsions. CONCLUSION: This model can distinguish the ANE from seizures/convulsions with high accuracy and from mild IAE close to 80% accuracy, providing valuable information for the early management of children with influenza.
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Influenza Humana , Convulsões , Humanos , Influenza Humana/complicações , Influenza Humana/diagnóstico , Pré-Escolar , Estudos Retrospectivos , Feminino , Masculino , Estudos de Casos e Controles , Convulsões/diagnóstico , Convulsões/etiologia , Criança , Lactente , Diagnóstico Diferencial , China/epidemiologia , Encefalopatias/diagnóstico , Encefalopatias/etiologia , Algoritmo Florestas AleatóriasRESUMO
BACKGROUND & AIMS: Gestational diabetes mellitus (GDM) and gestational weight gain are two crucial modifiable nutritional factors during pregnancy in preventing macrosomia, warranting appropriate management of both glycemic levels and weight gain to prevent macrosomia, particularly in individuals with GDM. Unfortunately, current general weight targets appear not to apply to individuals with GDM, suggesting that weight gain, specifically following an oral glucose tolerance test (OGTT), may affect risk of macrosomia dependent on GDM status. Therefore, this study aims to evaluate the interaction and joint association of GDM and post-OGTT weight gain rate (PWGR) in relation to macrosomia. METHODS: This was a population-based cohort study of 59,421singleton pregnant women in South China during 2017-2020. Among them, 9856 were diagnosed with GDM while 49,565 did not have the condition. All participants underwent an OGTT between 20 and 28 weeks of pregnancy, typically occurring between 24 and 28 weeks. PWGR was defined as the average rate of change in maternal weight with gestational weeks following OGTT, which was estimated using a repeated linear mixed effects model including a random intercept and slope for each individual. The relative risk (RR) of macrosomia associated with GDM and PWGR was estimated using a multivariate generalized linear model. RESULTS: There was a significant interaction between GDM and PWGR in increasing the risk of macrosomia. The combination of GDM and a 1-SD increase in PWGR was associated with a 2.26-fold higher risk of macrosomia (95% CI 1.92 to 2.65), with the interaction of these two factors contributing to 58.0% (95% CI 31.4%-84.7%) of this association. Moreover, we observed a significant heterogeneity in susceptibility to macrosomia due to increased PWGR between GDM and non-GDM populations, with the highest PWGR quartile having respective RRs of 2.27 (95% CI 1.62 to 3.18) and 1.41 (95% CI 1.18 to 1.69) compared to the lowest quartile category, which was corresponded to 55.9% (95% CI 38.3%-68.6%) and 29.1% (95% CI 15.3%-40.8%) preventable proportions of macrosomia cases in these populations. CONCLUSIONS: GDM and PWGR had a synergistic effect in increasing the risk of macrosomia. Furthermore, individuals with GDM exhibited a heightened susceptibility to macrosomia due to elevated PWGR. These findings emphasize the importance of appropriate weight interventions during late pregnancy and suggest the need for different weight targets between these two populations, with a stricter PWGR potentially being more effective for the GDM population.
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Diabetes Gestacional , Gravidez , Feminino , Humanos , Diabetes Gestacional/epidemiologia , Macrossomia Fetal/epidemiologia , Estudos de Coortes , Aumento de Peso , Teste de Tolerância a GlucoseRESUMO
BACKGROUND: Weight management has been an important component of the service in obstetric care offered to pregnant women. Current gestational weight gain recommendations were primarily for the general obstetric population, raising concern about the applicability to women with gestational diabetes mellitus (GDM). We aimed to assess the difference in weight progression and adherence to the recommended gestational weight gain targets between women with gestational diabetes mellitus (GDM) and women with normal glucose tolerance (NGT). METHODS: This was a hospital-based retrospective study of 56,616 pregnant women (9,430 GDM women and 47,186 NGT women) from Guangzhou between 2017 and 2021. The average change in weight progression was estimated based on serial weight measurements throughout pregnancy, using a mixed effects model with a random intercept to account for repeated measures of the same individual. RESULTS: Women with GDM gained less weight (12.07 [SD 5.20] kg) than women with NGT (14.04 [SD 5.04] kg) throughout pregnancy. Before OGTT, a small difference was observed in the average change in weight progression between the two groups (GDM, 0.44 kg/week vs. NGT, 0.45 kg/week, p < 0.001), however, this gap widened significantly after the test (0.34 vs. 0.50 kg/week, p < 0.001). GDM individuals were identified with an approximately 4-fold increased proportion of insufficient weight gain (41.1% vs. 10.4%) and a 2-fold decreased proportion of excessive weight gain (22.6% vs. 54.2%) compared to NGT individuals. These results were consistently observed across different BMI categories, including underweight (insufficient: 52.7% vs. 19.9%; excessive: 15.6% vs. 35.3%), normal weight (insufficient 38.2% vs. 7.4%; excessive: 22.2% vs. 57.3%), and overweight/obese (insufficient: 43.1% vs. 9.8%; excessive: 30.1% vs. 68.8%). CONCLUSION: Weight progression varied significantly between GDM and NGT individuals, resulting in a substantial difference in identifying insufficient and excessive weight gain between the two groups under current gestational weight gain guidelines.
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Diabetes Gestacional , Ganho de Peso na Gestação , Gravidez , Feminino , Humanos , Diabetes Gestacional/epidemiologia , Estudos Retrospectivos , Aumento de Peso , Obesidade/epidemiologia , Glucose , Índice de Massa CorporalRESUMO
BACKGROUND: Appropriate gestational weight gain (GWG) is essential for maternal and fetal health. For twin pregnancies among Caucasian women, the Institute of Medicine (IOM) guidelines can be used to monitor and guide GWG. We aimed to externally validate and compare the IOM guidelines and the recently released guidelines for Chinese women with twin pregnancies regarding the applicability of their recommendations on total GWG (TGWG). METHOD: A retrospective cohort study of 1534 women who were aged 18-45 years and gave birth to twins at ≥ 26 gestational weeks between October 2016 and June 2020 was conducted in Guangzhou, China. Women's TGWG was categorized into inadequate, optimal, and excess per the IOM and the Chinese guidelines. Multivariable generalized estimating equations logistic regression was used to estimate the risk associations between TGWG categories and adverse neonatal outcomes. Cohen's Kappa coefficient was calculated to evaluate the agreement between the IOM and the Chinese guidelines. RESULTS: Defined by either the IOM or the Chinese guidelines, women with inadequate TGWG, compared with those with optimal TGWG, demonstrated higher risks of small-for-gestational-age birth and neonatal jaundice, while women with excess TGWG had a higher risk of delivering large-for-gestational-age infants. The agreement between the two guidelines was relatively high (Kappa coefficient = 0.721). Compared with those in the optimal TGWG group by both sets of the guidelines, women classified into the optimal group by the Chinese guidelines but into the inadequate group by the IOM guidelines (n = 214) demonstrated a statistically non-significant increase in the risk of all the adverse neonatal outcomes combined. CONCLUSIONS: The IOM and the Chinese guidelines are both applicable to Chinese women with twin pregnancies.
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Ganho de Peso na Gestação , Complicações na Gravidez , Gravidez , Recém-Nascido , Feminino , Humanos , Gravidez de Gêmeos , Resultado da Gravidez/epidemiologia , Estudos Retrospectivos , Índice de Massa CorporalRESUMO
BACKGROUND: Although first-trimester subchorionic hematoma (SCH) always concerns expectant parents, its clinical significance remains controversial. This study aimed to examine the relationship between SCH and its association with subsequent miscarriage and other perinatal outcomes in singleton pregnancies. METHODS: We conducted a retrospective cohort study including 43,660 women who underwent routine prenatal care since the first trimester and then were followed up for maternal and neonatal outcomes. SCH was detected in the first-trimester ultrasound examinations. Robust Poisson regression was used to estimate adjusted risk associations of SCH with maternal and neonatal outcomes. RESULTS: A total of 815 (1.87%) SCH cases were detected in the first-trimester ultrasound examinations. The rate of miscarriage was statistically significantly higher in women with SCH than without [35.21% vs. 23.92%, P < 0.01; adjusted relative risk (RR):1.44, 95% confidence interval (CI): 1.31-1.58]. Subgroup analysis of women with SCH showed a clear trend that the earlier SCH occurred, the higher the risk of miscarriage was [adjusted RR (95% CI) for onset at the gestational weeks of 8-9, 6-7, and < 6 vs. ≥ 10: 1.30 (0.69-2.46), 2.33 (1.28-4.23), and 4.18 (2.30-7.58), respectively; Ptrend < 0.01]. In addition, women with SCH volume ≥ 1 ml showed higher risk than did those with SCH volume < 1 ml [adjusted RR (95% CI) for 1-4.9 ml, and ≥ 5 ml vs. < 1 ml: 1.36 (1.10-1.68) and 1.56 (1.18-2.07), respectively]. There was no statistically significant difference in the rates of other pregnancy outcomes between women with and without SCH. CONCLUSIONS: First-trimester SCH, particularly when characterized by early presence and large size, might significantly increase the risk of miscarriage. Data from this study suggest no associations between SCH and other maternal and neonatal outcomes.
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Aborto Espontâneo , Complicações na Gravidez , Gravidez , Recém-Nascido , Feminino , Humanos , Primeiro Trimestre da Gravidez , Aborto Espontâneo/epidemiologia , Estudos Retrospectivos , Ultrassonografia Pré-Natal , Complicações na Gravidez/epidemiologia , Resultado da Gravidez/epidemiologia , Hematoma/diagnóstico por imagem , Hematoma/epidemiologia , Hematoma/complicaçõesRESUMO
BACKGROUND: Obesity has been linked to systemic inflammation in population studies. OBJECTIVE: To examine the associations of prepregnancy body mass index (pBMI) and total gestational weight gain (tGWG) with maternal prepartum low-grade inflammation (LGI) and clinically significant inflammation (CSI) defined by serum C-reactive protein (CRP) concentration. METHODS: Five thousand four hundred seventy-six Chinese women with uncomplicated pregnancies and recorded data on pBMI and prepartum body weight were included in this study. Blood samples were drawn before delivery for high-sensitivity CRP assay. Inadequate, optimal, and excessive tGWG were defined using the Institute of Medicine's recommendation. Multivariable Poisson regressions were used to estimate relative risks (RRs) for having prepartum LGI and CSI (defined as CRP concentration 3-10 and > 10 mg/L, respectively) across pBMI and tGWG categories. RESULTS: The mean pBMI, mean tGWG, and median maternal prepartum CRP concentration were 20.4 kg/m2, 13.9 kg, and 3.3 mg/L, respectively. The prevalence of prepartum CSI and LGI was 7.2% and 47.8%. The adjusted RRs (95% confidence interval) of CSI for normal (18.5-24.9 kg/m2) and high (≥ 25 kg/m2) vs. low pBMI (< 18.5 kg/m2) were 1.35 (1.05-1.74) and 2.28 (1.53-3.39), respectively. The respective adjusted RRs of LGI were 1.19 (1.11-1.28) and 1.59 (1.42-1.77). The adjusted RRs for excessive vs. optimal tGWG was 1.18 (0.94-1.48) for CSI and 1.14 (1.07-1.21) for LGI. CONCLUSIONS: Prepregnancy overweight/obesity and excessive tGWG increase the risk of maternal prepartum systemic inflammation, which further highlights the importance of weight management before and during pregnancy.
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Ganho de Peso na Gestação , Índice de Massa Corporal , China/epidemiologia , Feminino , Humanos , Inflamação/epidemiologia , Obesidade/complicações , Obesidade/epidemiologia , Sobrepeso/complicações , Gravidez , Aumento de PesoRESUMO
PURPOSE: This study aims to investigate genomic imbalance in euploid products of conceptions (POCs) detected by chromosomal microarray analysis (CMA) and its association with clinical characteristics. METHODS: In a retrospective cohort study where all women with singleton pregnancy losses underwent CMA detection of POCs, only patients with euploid POCs were included in the analysis. The clinical features were compared between those with and without a copy number variant (CNV). The pathogenic CNVs and the variant of uncertain significance (VOUS) were analyzed, and the common pathogenic CNVs and uniparental disomy (UPD) were investigated. RESULTS: A total of 610 POCs were detected as chromosomal euploid, of which 176 were euploid with CNVs and 434 were euploid without CNVs. Regarding maternal age, gestational age, and history of pregnancy loss, no significant differences were found between the two groups. Furthermore, 104 pathogenic CNVs were identified in 93 POCs, and the deletion of 8p23.3 was found in 10 subjects. All CNVs greater than 3 Mb and 39.5% of CNVs ranging from 1 to 2 Mb were pathogenic, and only 3 CNVs < 1 Mb were pathogenic. UPD was detected in 12 POCs. CONCLUSION: Besides aneuploidy, 15.24% pregnancy loss might have an association with pathogenic genomic imbalance, and the occurrence of genomic imbalance is not related to clinical characteristics. CNVs greater than 3 Mb in pregnancy losses have a high probability to be pathogenic, and approximately 40% of CNVs ranging from 1 to 2 Mb are pathogenic. The deletion of 8p23.3 is the most common pathogenic CVN in POCs of Chinese-Han women. The clinical significance of UPD in pregnancy loss needs further study.
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Aborto Espontâneo , Variações do Número de Cópias de DNA , Aborto Espontâneo/genética , Aneuploidia , Aberrações Cromossômicas , Variações do Número de Cópias de DNA/genética , Feminino , Genômica , Humanos , Análise em Microsséries , Gravidez , Estudos RetrospectivosRESUMO
BACKGROUND: Controversial evidence regarding the applicability of the IOM's gestational weight gain (GWG) targets for women with gestational diabetes mellitus (GDM) has been reported. However, little is known about the weight gain rate (WGR) during the second and third trimesters. Moreover, previous studies failed to assess the effect modification of pre-pregnancy BMI because of the limited sample size. Therefore, we aimed to assess the applicability of the IOM recommendation for the WGR in women with GDM in different pre-pregnancy BMI categories. METHODS: We conducted this retrospective cohort study of 5275 women with GDM who delivered at Guangzhou Women and Children's Medical Center (GWCMC) between January 2017 and January 2021. Demographic and clinical information was collected from the electronic medical record system. The primary exposure was the WGR in the late second and third trimesters; they were classified as below, within, and above the IOM standard. The outcomes were fetal growth indicators, including large-for-gestational-age (LGA), macrosomia, small-for-gestational-age (SGA), and low birth weight (LBW). The associations between the WGR and such outcomes were assessed using multiple logistic regression. RESULTS: A WGR below the IOM standard was associated with the decreased odds of LGA (adjusted OR 0.74; 95% CI 0.49-1.13) and macrosomia (adjusted OR 0.54, 95% CI 0.32-0.92) for women with GDM in the normal weight BMI class. Such decreases were observed greater for women with GDM in the overweight/obese class, with adjusted ORs of 0.34 (95% CI 0.09-0.88) for LGA and 0.31 (95% CI 0.01-0.84) for macrosomia, respectively. No significant difference was observed in the odds ratios of SGA and LBW across the different WGR groups. CONCLUSION: LGA and macrosomia are the main outcomes associated with the WGR in the late second and third trimesters, and a WGR below the IOM standard was associated with a decreased odds of such outcomes compared with a WGR within the IOM standard in women with GDM in the normal weight and overweight/obese classes. Our findings suggest that a stricter WGR target than that of the current IOM standard may be more beneficial for women with GDM.
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Diabetes Gestacional , Peso ao Nascer , Índice de Massa Corporal , Criança , Feminino , Desenvolvimento Fetal , Retardo do Crescimento Fetal , Macrossomia Fetal/epidemiologia , Humanos , Recém-Nascido , Obesidade , Sobrepeso , Gravidez , Resultado da Gravidez , Terceiro Trimestre da Gravidez , Estudos Retrospectivos , Aumento de PesoRESUMO
Objectives: Copy number variant (CNV) is believed to be the potential genetic cause of pregnancy loss. However, CNVs less than 3 Mb in euploid products of conceptions (POCs) remain largely unexplored. The aim of this study was to investigate the features of CNVs less than 3 Mb in POCs and their potential clinical significance in pregnancy loss/fetal death. Methods: CNV data were extracted from a cohort in our institution and 19 peer-reviewed publications, and only those CNVs less than 3 Mb detected in euploid pregnancy loss/fetal death were included. We conducted a CNV map to analyze the distribution of CNVs in chromosomes using R packages karyoploteR_1.10.5. Gene names and annotated gene types covered by those CNVs were mined from the human Release 19 reference genome file and GENECODE database. We assessed the expression patterns and the consequences of murine knock-out of those genes using TiGER and Mouse Genome Informatics (MGI) databases. Functional enrichment and pathway analysis for genes in CNVs were performed using clusterProfiler V3.12.0. Result: Breakpoints of 564 CNVs less than 3 Mb were obtained from 442 euploid POCs, with 349 gains and 185 losses. The CNV map showed that CNVs were distributed in all chromosomes, with the highest frequency detected in chromosome 22 and the lowest frequency in chromosome Y, and CNVs showed a higher density in the pericentromeric and sub-telomeric regions. A total of 5,414 genes mined from the CNV regions (CNVRs), Gene Ontology (GO), and pathway analysis showed that the genes were significantly enriched in multiple terms, especially in sensory perception, membrane region, and tight junction. A total of 995 protein-coding genes have been reported to present mammalian phenotypes in MGI, and 276 of them lead to embryonic lethality or abnormal embryo/placenta in knock-out mouse models. CNV located at 19p13.3 was the most common CNV of all POCs. Conclusion: CNVs less than 3 Mb in euploid POCs distribute unevenly in all chromosomes, and a higher density was seen in the pericentromeric and sub-telomeric regions. The genes in those CNVRs are significantly enriched in biological processes and pathways that are important to embryonic/fetal development. CNV in 19p13.3 and the variations of ARID3A and FSTL3 might contribute to pregnancy loss.
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Artificial Intelligence (AI) has achieved state-of-the-art performance in medical imaging. However, most algorithms focused exclusively on improving the accuracy of classification while neglecting the major challenges in a real-world application. The opacity of algorithms prevents users from knowing when the algorithms might fail. And the natural gap between training datasets and the in-reality data may lead to unexpected AI system malfunction. Knowing the underlying uncertainty is essential for improving system reliability. Therefore, we developed a COVID-19 AI system, utilizing a Bayesian neural network to calculate uncertainties in classification and reliability intervals of datasets. Validated with four multi-region datasets simulating different scenarios, our approach was proved to be effective to suggest the system failing possibility and give the decision power to human experts in time. Leveraging on the complementary strengths of AI and health professionals, our present method has the potential to improve the practicability of AI systems in clinical application.
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AIMS: To estimate the residual risk associations between hyperglycemia and adverse pregnancy outcomes after glycemia-controlling intervention. METHODS: Among 41,067 Chinese women, those with gestational diabetes mellitus (GDM), according to the IADPSG criteria, received standard interventions to control glycemia. Risk associations of plasma glucose (PG) levels with excess newborn birth weight, primary cesarean section, and preterm delivery were estimated and compared with those in the Hyperglycemia and Adverse Pregnancy Outcomes (HAPO) study, where hyperglycemia was left untreated. RESULTS: A total of 6,709 (16.3%) women developed GDM and thus received predominantly lifestyle interventions. The incidence of excess newborn birth weight, primary cesarean section, and preterm delivery was 6.1%, 19.1%, and 4.0%, respectively. Higher fasting and higher post-load PG levels during 75-g oral glucose tolerance test (OGTT) were statistically significantly associated with increased risks of excess newborn birth weight and pre-term delivery. Compared with the HAPO study, the association of fasting PG level with excess newborn birth weight showed similar strength and dose-response pattern, contrasting with considerably weakened associations for post-load PG levels that involved glycemic control. Contrary risk associations were seen across GDM subtypes compared with non-GDM, isolated fasting GDM was associated with increased, whereas isolated post-load GDM was associated with decreased, risks of excess newborn birth weight and primary cesarean section. Limiting the analysis to non-GDM women and GDM women with low HbA1c (<6.0%) ≥30 days after interventions overall attenuated the risk associations. CONCLUSIONS: Residual risk associations exist between hyperglycemia and adverse pregnancy outcomes despite seemingly appropriate glycemic control.
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Diabetes Gestacional , Hiperglicemia , Glicemia/análise , Cesárea , Diabetes Gestacional/epidemiologia , Feminino , Humanos , Hiperglicemia/complicações , Hiperglicemia/epidemiologia , Recém-Nascido , Gravidez , Resultado da Gravidez/epidemiologiaRESUMO
Objectives: To identify the differences of clinical characteristics and outcomes of severe pneumonia in children under 5 years old with and without adenovirus infection. Methods: A retrospective cohort study was conducted in three pediatric hospitals in Guangzhou, China. In total, 1,595 children under the age of 5 with WHO-defined severe pneumonia had adenovirus testing performed between January 1, 2009 and December 31, 2019. Demographics, complications, the first routine laboratory findings, therapeutic records, and clinical outcome were collected from electronic medical records. We compared characteristics of children with and without adenovirus infection. Results: Adenovirus was detected in 75 (4.7%) out of 1,595 children with severe pneumonia. Cases with adenovirus infection were more likely to be boys (74.7 vs. 63.0%), older than 1 year old (78.7 vs. 25.1%), but less likely to have mixed virus infections (25.3 vs. 92.9%) and combined with cardiovascular disease (12.0 vs. 39.7%), and had more abnormal laboratory results than cases without adenovirus infection. Antiviral therapy (4.9%) was rarely used in children with severe pneumonia, but antibiotic therapy (65.3%) was commonly used, especially in cases with adenovirus infection (91.9%). Children infected with adenovirus (9.3 vs. 2.5%) were also hospitalized longer and had a higher mortality within 30 days of hospitalization. Conclusions: Children with severe pneumonia under 5 years old with adenovirus infection had more abnormal laboratory findings and more severe clinical outcomes than cases without adenovirus infection. More attention should be focused on the harm caused by adenovirus infection.
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OBJECTIVE: Embryonic aneuploidy is found in about half of sporadic pregnancy losses and the associations between the chromosomal aneuploidy and clinical characteristics of pregnancy loss remain unclear. The aims of this study were to evaluate the associations between chromosomal aneuploidy of products of conception (POC) and clinical features of pregnancy loss. METHODS: We conducted a retrospective cohort study including 1,102 women experienced singleton pregnancy loss and underwent chromosomal microarray analysis (CMA) detection of POC in our hospital. The results of molecular karyotypes and clinical features including maternal age, history of pregnancy loss, gestational age, vaginal bleeding and ultrasonographic findings were extracted from the medical records. χ2 test was used to compare categorical data between groups. RESULTS: 631 (57.26%) POC specimens were detected to be chromosomal aneuploidy. Aneuploid rates were significantly higher in women >35 years (P < 0.001) and pregnancy loss <11 gestational weeks (P = 0.044), but the rates of sex chromosome abnormalities and triploid were significantly higher in women ≤35 years (P < 0.001, P = 0.002) and the rates of viable autosomal trisomy and sex chromosome abnormalities were significantly high in those women with pregnancy loss ≥11 weeks (P < 0.001, P < 0.001). Aneuploid rate was overall similar between the sporadic and the recurrent pregnancy loss (RPL) (P = 0.404), but the rate of sex chromosome abnormalities was higher in women with sporadic pregnancy loss (P = 0.03). Aneuploid rates were higher in subjects with yolk sac or embryo than in those without (P < 0.001 and P = 0.001). CONCLUSION: Advanced maternal age is mainly associated with autosomal trisomy, while sex chromosome abnormalities and triploid might be more likely to occur in younger women. Aneuploidy rates might be no association with previous pregnancy loss except for sex chromosome abnormalities. Pregnancy loss without yolk sac or embryo might be less related to embryonic aneuploidy, and other factors should be emphasized.
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Relapsed acute lymphoblastic leukaemia (ALL) remains a prevalent paediatric cancer and one of the most common causes of mortality from malignancy in children. Tailoring the intensity of therapy according to early stratification is a promising strategy but remains a major challenge due to heterogeneity and subtyping difficulty. In this study, we subgroup B-precursor ALL patients by gene expression profiles, using non-negative matrix factorization and minimum description length which unsupervisedly determines the number of subgroups. Within each of the four subgroups, logistic and Cox regression with elastic net regularization are used to build models predicting minimal residual disease (MRD) and relapse-free survival (RFS) respectively. Measured by area under the receiver operating characteristic curve (AUC), subgrouping improves prediction of MRD in one subgroup which mostly overlaps with subtype TCF3-PBX1 (AUC = 0·986 in the training set and 1·0 in the test set), compared to a global model published previously. The models predicting RFS displayed acceptable concordance in training set and discriminate high-relapse-risk patients in three subgroups of the test set (Wilcoxon test p = 0·048, 0·036, and 0·016). Genes playing roles in the models are specific to different subgroups. The improvement of subgrouped MRD prediction and the differences of genes in prediction models of subgroups suggest that the heterogeneity of B-precursor ALL can be handled by subgrouping according to gene expression profiles to improve the prediction accuracy.
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Perfilação da Expressão Gênica , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Adolescente , Criança , Pré-Escolar , Intervalo Livre de Doença , Feminino , Perfilação da Expressão Gênica/classificação , Humanos , Lactente , Modelos Logísticos , Masculino , Neoplasia Residual , Leucemia-Linfoma Linfoblástico de Células Precursoras/classificação , Modelos de Riscos Proporcionais , Curva ROC , Recidiva , Adulto JovemRESUMO
BACKGROUND: Coronavirus disease 2019 (COVID-19) share similar symptoms with influenza A (IA), but it is more worthwhile to understand the disparities of the two infections regarding their clinical characteristics on admission. METHODS: A total of 71 age-matched pediatric IA and COVID-19 patient pairs were formed and their clinical data on admission were compared. RESULTS: Fever, cough, nasal congestion and nausea/vomiting were the most common symptoms on admission for both infections but occurred less often in COVID-19. The IA patients were more likely to have lower-than-normal levels of lymphocyte count and percentage and to have higher-than-normal levels of activated partial thromboplastin time, prothrombin time, serum C-reactive protein, and serum procalcitonin, while the COVID-19 patients had higher odds of having lower-than-normal levels of neutrophil count and percentage. CONCLUSIONS: This study suggests that influenza A is more symptomatic than COVID-19 for children and might be an overall more severe infection at the time of admission.
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COVID-19/diagnóstico , Diagnóstico Diferencial , Influenza Humana/diagnóstico , Avaliação de Sintomas , Adolescente , Proteína C-Reativa , COVID-19/patologia , Criança , Pré-Escolar , China , Tosse , Feminino , Febre , Hospitalização , Humanos , Lactente , Recém-Nascido , Influenza Humana/patologia , Contagem de Leucócitos , Masculino , Náusea , Neutrófilos , Tempo de Tromboplastina Parcial , Pró-Calcitonina , Estudos Retrospectivos , VômitoRESUMO
OBJECTIVES: This study aimed to determine whether changes in perioperative N-terminal pro-B-type natriuretic peptide (NT-proBNP) are associated with short-term outcomes in children undergoing surgery for congenital heart disease (CHD). METHODS: We retrospectively included 873 consecutive children with CHD after cardiac surgery. NT-proBNP concentrations were collected from each child prior to and at 1, 12, 36 and 72 h after surgery. The patients had postsurgical follow-ups at 30, 90 and 180 days. The end point was postoperative composite adverse events. RESULTS: The patients were classified into 3 groups using joint latent class mixture time-to-event models: (i) relatively stable (86.7%), (ii) decreasing (7.2%) and (iii) increasing (6.1%). In total, 257 (29.4%) adverse events occurred. The joint latent class mixture time-to-event models showed that increasing NT-proBNP was strongly associated with adverse events, with adjusted hazard ratio of 2.33 (95% confidence interval 1.52-3.60). Multinomial logistic regression showed that the variables associated with the pattern of change were age, weight at surgery, mode of delivery and cardiopulmonary bypass time. CONCLUSIONS: The pattern of dynamic postsurgical changes in NT-proBNP may facilitate outcome stratification and identification of a high risk for adverse events.
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Cardiopatias Congênitas , Biomarcadores , Criança , Cardiopatias Congênitas/cirurgia , Humanos , Peptídeo Natriurético Encefálico , Fragmentos de Peptídeos , Prognóstico , Estudos RetrospectivosRESUMO
OBJECTIVE: To examine whether a modified endometriosis fertility index (EFI) can better predict the rate of pregnancy without assisted reproductive technologies (ART) after laparoscopic surgery in infertile Chinese women with endometriosis. METHODS: 564 infertile women undergoing laparoscopy for endometriosis were retrospectively collected from January 2014 to December 2018. 472 patients were used to modify the EFI based on new, optimal cutoffs for its predictor variables. The predictive accuracy of the modified EFI was examined in the other 92 patients. RESULTS: Among the patients for the EFI modification, the multivariable Cox regression results showed that historical factors made more contribution in predicting non-ART pregnancy rate than surgical factors both in modified EFI (C-index: historical factors 0.617 vs surgical factors 0.558) and original EFI (C-index: historical factors 0.600 vs surgical factors 0.549). No significant relationship between the prior pregnancy and post-operative non-ART pregnancy rates was detected by both modified EFI and original EFI (p = 0.530 and 0.802, respectively). To assess the predictive effect of modified EFI, the two versions of modified EFI not only had higher predictive accuracy (C-index: 0.627 and 0.632) for non-ART pregnancy rates than that of the original EFI (C-index: 0.602) in the patients undergoing surgery during 2014-2017, but also higher than that of the original EFI (C-index: 0.638 and 0.612 vs 0.560) in the externally validated population in 2018. CONCLUSIONS: A modified EFI based on population-specific optimal cutoffs and weights might be more suitable for estimating the rate of non-ART pregnancy after laparoscopic surgery in infertile women with endometriosis.
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Endometriose/cirurgia , Fertilidade/fisiologia , Taxa de Gravidez/tendências , Adulto , China , Estudos de Coortes , Feminino , Humanos , GravidezRESUMO
BACKGROUND: The new emerging coronavirus disease 2019 (COVID-19) overall shares similar symptoms with other common respiratory viral infections. We aimed in this study to compare COVID-19 and human adenovirus (HAdV) infections in pediatric patients regarding the frequencies of major clinical symptoms and the potential disparities in laboratory and imaging parameters. METHODS: Following a case-control-like design, we built 72 age-matched pediatric COVID-19 and HAdV patient pairs. Their early symptoms and laboratory and imaging characteristics were then retrieved and compared. RESULTS: Fever and cough were the most common symptoms for both infections but were seen more often in HAdV than in COVID-19 patients (92% vs. 66% and 60% vs. 18%, respectively). Compared with COVID-19 patients, children with HAdV infection had statistically significantly higher values of neutrophil count, neutrophil percentage, activated partial thromboplastin time, prothrombin time, lactate dehydrogenase, C-reactive protein, procalcitonin but lower values of lymphocyte percentage, total bilirubin, potassium and sodium. Thoracic computed tomography also revealed more anomalies in HAdV patients than in COVID-19 patients (95% vs. 67%). CONCLUSIONS: COVID-19 is an overall less symptomatic and less severe infection at admission compared to HAdV respiratory infection in pediatric population.
Assuntos
Infecções por Adenovirus Humanos/patologia , COVID-19/patologia , SARS-CoV-2 , Infecções por Adenovirus Humanos/sangue , Infecções por Adenovirus Humanos/diagnóstico por imagem , Adenovírus Humanos , COVID-19/sangue , COVID-19/diagnóstico por imagem , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: Whether early lumbar puncture (LP) and blood indicators are suitable as diagnostic criteria and helpful to treatment strategies for newborns remains to be solved. The study was to evaluate the value of cerebrospinal fluid (CSF) at the first LP and blood indicators at the similar time in the early diagnosis and the drug therapy of neonatal bacterial meningitis. MATERIALS AND METHODS: We conducted a retrospective observational study of 997 infants with suspected bacterial meningitis between June 2012 and June 2018. CSF and blood parameters were evaluated by three stepwise logistic models to assess their ability: to distinguish bacterial meningitis from nonbacterial meningitis, to distinguish positive CSF culture from negative, and to distinguish Gram-positive bacteria from negative. RESULTS: Of the 997 neonates, 236 (23.67%) were later diagnosed as bacterial meningitis. Of the neonates with meningitis, 54 (22.88%) had positive CSF culture results. And of neonates with positive CSF culture, 27 (50%) had Gram-positive results. One or more CSF indicators were added to the three models. Only blood hypersensitive C-reactive protein and blood lactate dehydrogenase were added to the first model, while no blood parameters was added to the other two models. The areas under the effect-time curves of the three models were 0.91 (95% confidence interval [CI]: 0.89-0.92, P < 0.001), 0.69 (95% CI: 0.63-0.75, P < 0.001), and 0.86 (95% CI: 0.74-0.94, P < 0.001), respectively. CONCLUSION: LP was irreplaceable predictor of bacterial meningitis, and comprehensive analysis of CSF indicators can predict the offending organism, which enables refinement of therapy.