Juan Li’s research while affiliated with Shanghai Jiao Tong University and other places

Background Both low/high pre-pregnancy body mass index (BMI) and increased bile acid levels during pregnancy (known as gestational hypercholanemia) were risk factors for adverse pregnancy outcomes, with limited information on their joint effects. Methods A total of 63,066 pregnant women were involved in a large retrospective cohort study from May 2014 to December 2018 in Shanghai, China. Data of pregnancy outcomes including hypercholanemia, hypertensive disorders in pregnancy (HDP), preterm delivery, and small for gestation age (SGA), were obtained for multivariable logistic analysis. Results Pre-pregnancy BMI was negatively associated with serum total bile acid (TBA) concentrations during gestation and the risk of hypercholanemia (p < 0.001). Low pre-pregnancy BMI and hypercholanemia coexisting were related to a 2.71-fold risk (95% confidence intervals [CI], 2.10-3.50) of SGA. Whereas, overweight/obese (OWO) with hypercholanemia are associated with 5.34-fold risk (95% CI 3.93-7.25) of HDP when compared with normal weight women without hypercholanemia. Women with excessive gestational weight gain (GWG) and hypercholanemia had a higher risk of HDP (odds ratio [OR] 3.56, 95% CI 2.91-4.36), and macrosomia (OR 2.95, 95% CI 2.42-3.60), compared with non-hypercholanemia women with adequate GWG. Whereas, women with inadequate GWG and hypercholanemia had increased risks of preterm delivery (OR 1.87, 95% CI 1.44-2.43), and SGA (OR 2.32, 95% CI 1.82-2.96). Conclusions Low maternal BMI before pregnancy was an independent risk factor for hypercholanemia. Additionally, pre-pregnancy underweight or OWO may amplify the effect of hypercholanemia on adverse pregnancy outcomes. Thus, pre-pregnancy BMI should be considered in the management of adverse perinatal outcomes related to gestational hypercholanemia.

Background Age and comorbidity significantly impact the prognosis of septic patients and inform treatment decisions. To provide clinicians with effective tools for identifying high-risk patients, this study assesses the predictive value of the age-adjusted Charlson Comorbidity Index (ACCI) and its simplified version, the quick ACCI (qACCI), for mortality in septic patients. Methods This retrospective study included septic patients from four Chinese medical centers. The internal validation cohort comprised patients from Xinhua Hospital, Ruijin Hospital, and Huashan Hospital, while participants from Renji Hospital served as the external validation cohort. Machine learning models identified ACCI's feature importance. Restricted cubic spline regression and subgroup analysis assess the correlation between ACCI and mortality risk. The qACCI, derived from the ACCI components, was also evaluated for predictive reliability. Results A total of 3,287 septic patients were included: 2,974 in the internal cohort (mean age 67.96 years; 37.5% male) and 313 in the external cohort (mean age 67.90 years; 48.2% male). Machine learning models identified ACCI as a key predictor of in-hospital mortality. A linear correlation was confirmed between ACCI and risks of in-hospital, 30-day, and ICU mortality. Sensitivity analysis revealed consistent results across subgroups, demonstrating significantly higher mortality risks in the moderate- (HR 2.18, 95% CI 1.77-2.70) and high-ACCI (HR 3.72, 95% CI 2.99-4.65) groups compared to the low-ACCI group (HR 1, Reference). The ACCI achieved an AUC of 0.788 for in-hospital mortality, outperforming the SOFA in gastrointestinal (0.831 vs. 0.794) and central nervous system infections (0.803 vs. 0.739). The qACCI showed moderate predictive performance in both the internal (AUC, 0.734) and external (AUC, 0.758) cohorts. Conclusions As composite indicators of age and comorbidity, ACCI and qACCI provide valuable and reliable tools for clinicians to identify high-risk patients early.

Background: In this study, we analysed the clinical and genetic characteristics and follow-up data of patients with maturity-onset diabetes of the young (MODY). Methods: From January 2015 to December 2022, patients with persistent hyperglycaemia suspected of having monogenic diabetes or diabetes syndrome were recruited, and next-generation sequencing (NGS) was performed at the Shanghai Children’s Medical Center. Patients’ clinical and laboratory findings were recorded preceding follow-ups. Candidate variants were verified using Sanger sequencing. Variant pathogenicity was evaluated according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Genetic testing was performed in 175 children. MODY-related pathogenic or likely pathogenic gene variants were identified in 30 patients from different families. Of these, 11 were diagnosed with GCK-MODY (36.7%), six with INS-MODY (20%), five with HNF1A-MODY (16.7%), five with ABCC8-MODY (16.7%), two with HNF1B-MODY (6.7%) and one with HNF4A-MODY (3.3%). There was one shift variant and seven splice-site variants, and the rest were missense variants. We discovered six novel variants. Of the 30 patients, 63.3% had a family history of diabetes, 13.3% had diabetic ketoacidosis (DKA), and 16.7% had positive diabetes-associated autoantibodies. The diabetes phenotype of patients with the INS variant was similar to that of patients with type 1 diabetes. All patients, including those having positive autoantibodies, required long-term insulin therapy during follow-ups. Four patients with the ABCC8 variant were unable to switch to oral sulfonylurea therapy and continued insulin therapy. Conclusion: Genetic testing is helpful for the precise diagnosis and treatment of patients with MODY, including those with DKA history and positive diabetes autoantibody. GCK-MODY is the most common type of MODY, and patients with INS variant account for a relatively large proportion of MODY cases in our cohort.

Background Triglyceride-glucose (TyG) index was suggested as a possible surrogate for insulin resistance and a predictor for cardiovascular diseases and diabetes in the non-pregnant population. However, the relationship between TyG index in early pregnancy and adverse pregnancy outcomes (APOs), and the contribution of pre-pregnancy body mass index (BMI) was still illusive. Methods A large retrospective cohort study involving 67,936 pregnant Chinese women between 2017 and 2022 was conducted. Data collection and laboratory tests were performed during the usual patient care. TyG index was calculated using ln [fasting plasma triglyceride (TG; mmol/L) × 88.5 × glucose (FPG; mmol/L) × 18.02/2]. Multivariable logistic regression models were applied to explore the relationship between TyG index and APOs. Interaction and stratification analyses were performed to assess the influence of pre-pregnancy BMI on the association. In addition, ROC curves were used to evaluate the potential predictive value of the TyG index and pre-pregnancy BMI. Results Positive associations between maternal early pregnancy TyG index and APOs, including gestational diabetes mellitus (GDM), hypertensive disorders of pregnancy (HDP), large for gestational age (LGA) and preterm birth (PTB) were demonstrated (all P < 0.001). Besides, there was a significant interaction effect of maternal pre-pregnancy BMI and TyG on the risk of GDM, HDP and LGA (P < 0.05). Women of pre-pregnancy overweight/obesity (OWO) with TyG index in the fourth quartile were at an increased risk for GDM [adjusted OR (aOR) and 95% CI, 3.82 (3.14–4.64)], HDP [aOR 95% CI, 1.34 (1.10–1.64)], for LGA [aOR 95% CI, 1.78 (1.44–2.19)], and PTB [aOR 95% CI, 1.53 (1.11–2.09)], compared with OWO mothers with TyG in the lowest quartile. In addition, the combination of BMI and TyG enhanced predictive performance for APOs, particularly in women with normal plasma TG and FPG levels. Conclusions Dose–response relationships were identified between elevated maternal TyG index in early pregnancy and APOs. A combination of early pregnancy TyG index and pre-pregnancy BMI may provide predictive value for APOs, even in low-risk women. Thus, early screening of fasting blood lipids and glucose simultaneously may be useful and convenient for the early identification of APOs, both among OWO and low-risk normal-weight women.

The ARCN1 gene encodes the delta subunit of the coatomer protein complex I (COPI), which is essential for mediating protein transport from the Golgi complex to the endoplasmic reticulum. Variants in ARCN1 are associated with clinical features such as microcephaly, microretrognathia, intrauterine growth restriction, short rhizomelic stature, and developmental delays. We present a case of a patient exhibiting intrauterine growth restriction, preterm birth, microcephaly, micrognathia, and central precocious puberty. Whole-exome sequencing identified a novel splice-site variant, NM_001655.5: c.1241 + 1G > A, in the ARCN1 gene. To our knowledge, this is the first documented case of ARCN1-related syndrome associated with central precocious puberty, contributing to the understanding of the disease phenotype. Supplementary Information The online version contains supplementary material available at 10.1186/s12887-024-05329-2.

Background The correlation between RAR is linked to negative outcomes in sepsis, but it remains uncertain if RAR is connected to prognosis in patients with sepsis-related NTIS. So we investigated it in this study. Methods Patients with sepsis-associated NTIS admitted to Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, between March 2013 and April 2017 were included in the study. Participants were divided into two groups according to the optimal threshold value for RAR determined by the receiver operating characteristic curve. Cox proportional hazards regression and graphed with Kaplan–Meier curves examined the relationship between RAR and survival in patients with sepsis-associated NTIS. To account for potential confounding variables, a propensity score matching method was conducted to verify the relationship. Subgroup analysis was performed for different sex, age, comorbidities, infection location and other scores. Results A total of 328 patients with sepsis-related NTIS were analyzed in our study. The univariate and multivariate regression analysis indicated that RAR was a significant risk factor for 30-day mortality (HR 1.039(1.012, 1.067), p = 0.004). However, subgroup analysis suggested that RAR may not be an independent risk factor for 30-day mortality in sepsis patients with NTIS combined with tumor or urogenital infection. ROC analysis demonstrated that RAR had a high discriminatory ability for predicting 30-day mortality (AUC 0.751, p < 0.001). Kaplan-Meier curve analysis indicated increased 30-day mortality in the higher RAR group. Following PSM, 108 pairs of patients with matched scores were created. The multivariate regression model demonstrated that RAR was an independent factor associated with 30-day mortality risk (HR 1.049 (1.015, 1.085), p = 0.005). ROC analysis revealed that RAR was a strong discriminator for the 30d-mortality (AUC: 0.695, 95% CI: (0.598–0.792)). Conclusion A strong correlation was found between RAR and unfavorable clinical results in sepsis-related NTIS, where a greater RAR was linked to increased 30-day and in-hospital death rates.

Stabilization of aeolian sand is essential for achieving desertification control, soil and water conservation, and agricultural development in sandy lands. Feldspathic sandstone is a soft clay rock widely found in the Mu Us Sandy Land. The purpose of this study was to ascertain the mechanism for aeolian sand stabilization with feldspathic sandstone from the perspective of particle size distribution. Feldspathic sandstone was added to aeolian sand at different ratios ( m f : m s = 1:0, 1:1, 1:2, 1:5, and 0:1, where m f is the mass of feldspathic sandstone and m s is the mass of aeolian sand). The results showed that the soil texture was modified upon addition of feldspathic sandstone. The content of particles <0.05 mm increased with increasing addition ratio of feldspathic sandstone, in contrast to the downward trend observed for particles >0.05 mm. Consequently, the soil texture changed from sand to sandy loam, then loam, and finally silty loam. The addition of feldspathic sandstone ameliorated aeolian sand, resulting in a broader particle size distribution and lower particle size uniformity. Continuously well-graded soil was obtained at m f : m s = 1:5 (coefficient of uniformity: 54.71; coefficient of curvature: 2.54) or 1:2 (coefficient of uniformity: 76.21; coefficient of curvature: 1.12). While the addition of feldspathic sandstone solved the problem of single particle size distribution in aeolian sand, the presence of aeolian sand prevented soil compaction caused by the high clay content of feldspathic sandstone. Findings of this study indicate that the addition of feldspathic sandstone to aeolian sand leads to the mixing of various sized particles and continuous gradation of the soil. Although a higher addition ratio of feldspathic sandstone is more favorable for soil texture improvement, m f : m s = 1:5 is recommended for practical application in terms of particle gradation and cost effectiveness.