Stromal lenticule addition keratoplasty with corneal crosslinking for corneal ectasia secondary to FS-LASIK: a case series.

AIM: To explore the clinical efficacy and safety of stromal lenticule addition keratoplasty (SLAK) with corneal crosslinking (CXL) on patients with corneal ectasia secondary to femtosecond laser-assisted in situ keratomileusis (FS-LASIK). METHODS: A series of 5 patients undertaking SLAK with CXL for the treatment of corneal ectasia secondary to FS-LASIK were followed for 4-9mo. The lenticules were collected from patients undertaking small incision lenticule extraction (SMILE) for the correction of myopia. Adding a stromal lenticule was aimed at improving the corneal thickness for the safe application of crosslinking and compensating for the thin cornea to improve its mechanical strength. RESULTS: All surgeries were conducted successfully with no significant complications. Their best corrected visual acuity (BCVA) ranged from 0.05 to 0.8-2 before surgery. The pre-operational total corneal thickness ranged from 345-404 µm and maximum keratometry (Kmax) ranged from 50.8 to 86.3. After the combination surgery, both the corneal keratometry (range 55.9 to 92.8) and total corneal thickness (range 413-482 µm) significantly increased. Four out of 5 patients had improvement of corneal biomechanical parameters (reflected by stiffness parameter A1 in Corvis ST). However, 3 patients showed decreased BCVA after surgery due to the development of irregular astigmatism and transient haze. Despite the onset of corneal edema right after SLAK, the corneal topography and thickness generally stabilized after 3mo. CONCLUSION: SLAK with CXL is a potentially beneficial and safe therapy for advanced corneal ectasia. Future work needs to address the poor predictability of corneal refractometry and compare the outcomes of different surgical modes.

Anxiety and depression in nasopharyngeal carcinoma patients and network analysis to identify central symptoms: A cross-sectional study from a high-incidence area.

PURPOSE: To determine the prevalence of anxiety and depression in patients with nasopharyngeal carcinoma (NPC) and to identify central symptoms and bridge symptoms among psychiatric disorders. METHODS: This cross-sectional study recruited patients with NPC in Guangzhou, China from May 2022, to October 2022. The General Anxiety Disorder-7 (GAD-7) and Patient Health Questionnaire-9 (PHQ-9) were used for screening anxiety and depression, respectively. Network analysis was conducted to evaluate the centrality and connectivity of the symptoms of anxiety, depression, quality of life (QoL) and insomnia. RESULTS: A total of 2806 respondents with complete GAD-7 and PHQ-9 scores out of 3828 were enrolled. The incidence of anxiety in the whole population was 26.5% (depression, 28.5%; either anxiety or depression, 34.8%). Anxiety was highest at caner diagnosis (34.2%), while depression reached a peak at late-stage radiotherapy (48.5%). Both moderate and severe anxiety and depression were exacerbated during radiotherapy. Coexisting anxiety and depression occurred in 58.3% of those with either anxiety or depression. The generated network showed that anxiety and depression symptoms were closely connected; insomnia was strongly connected with QoL. "Sad mood", "Lack of energy", and "Trouble relaxing" were the most important items in the network. Insomnia was the most significant bridge item that connected symptom groups. CONCLUSION: Patients with NPC are facing alarming disturbances of psychiatric disorders; tailored strategies should be implemented for high-risk patients. Besides, central symptoms (sad mood, lack of energy, and trouble relaxing) and bridge symptoms (insomnia) may be potential interventional targets in future clinical practice.

Comparing the effects of aquatic-based exercise and land-based exercise on balance in older adults: a systematic review and meta-analysis.

BACKGROUND: Balance plays a crucial role in the daily activities of older adults. Aquatic-based exercises (AE) are widely conducted as an alternative to land-based exercises (LE). Previous studies have compared AE and LE as effective ways to improve balance and have yielded inconsistent results. Therefore, this review aimed to compare the effects of AE and LE on balance function in older adults. METHODS: Electronic databases, including PubMed, Web of Science, Scopus, and Embase, were searched. Randomized controlled trials published from January 2003 to June 2023 were included following predetermined criteria. Data extraction was carried out by two independent reviewers. Data synthesis was conducted using RevMan 5.3 software. The fixed-effect model or random-effect model was chosen based on the results of the heterogeneity test. Meta-analysis for the effect sizes of balance outcomes was calculated as standardized mean difference (SMD) with 95% confidence intervals (CI). The quality of the included studies was evaluated using the Physiotherapy Evidence Database (PEDro) scale. This review was registered at PROSPERO CRD42023429557. RESULTS: A total of 29 studies involving 1486 older adults (with an average age of 66.2 years) were included. Meta-analysis results indicated that AE could improve balance ability based on two tests: the Berg balance scale (BBS: SMD = 1.13, 95% CI 0.25 to 2.00, p = 0.01, I2 = 94%) and the 30-s chair stand test (30 CST: SMD = 2.02, 95% CI 0.50 to 3.54, p = 0.009, I2 = 96%). However, there were no significant differences between the AE group and the LE group in terms of the 6-min walking test (6 MWT: SMD = 0.13, 95% CI -0.16 to 0.43, p = 0.38, I2 = 62%) and time up to go test (TUGT: SMD = 0.44, 95% CI -0.44 to 0.91, p = 0.07, I2 = 85%). Older adults with different health conditions have different gains in different balance measurements after AE intervention and LE intervention. CONCLUSIONS: Although this was influenced by participant health status, transfer effects, sample size, and other factors, AE offers better benefits than LE for improving balance function in older adults.

Study on agricultural water resource utilization efficiency under the constraint of carbon emission and water pollution.

Agricultural water resource utilization efficiency in China is facing significant challenges due to the dual constraints of carbon emissions and water pollution. The inefficiency in water usage in agriculture not only impacts the sustainability of water resources but also contributes to environmental degradation through increased carbon emissions and water pollution. Agricultural water resource utilization efficiency under the constraint of carbon emission and water pollution has been a critical issue in China from 2005 to 2022. This study employs the Quantile Autoregressive Distributed Lag (QARDL) method to comprehensively assess and analyze the complex relationship that exists between agricultural water usage, carbon emissions, and water pollution. By analyzing distinct quantiles of the data distribution, the research investigates how different levels of water resource utilization efficiency relate to carbon emissions and water pollution under various conditions. The findings reveal nuanced insights into the dynamic interactions among these components within the agricultural sector. This research project focuses on the efficiency of water resource utilization in agriculture while considering the constraints of carbon emission and water pollution. Given the dynamic and time-dependent character of these components, the QARDL methodology makes it possible to get a detailed knowledge of how they interact within the framework of agriculture. The study aims to give significant insights and policy suggestions to improve agricultural practices while minimizing environmental concerns linked to carbon emissions and water pollution.

Subregions of the fusiform gyrus are differentially involved in the attentional mechanism supporting visual mental imagery in depression.

BACKGROUND: Impaired visual mental imagery is an important symptom of depression and has gradually become an intervention target for cognitive behavioral therapy. METHODS: Our study involved a total of 25 healthy controls (HC) and 23 individuals with moderate depressive symptoms (MD). This study explored the attentional mechanism supporting visual mental imagery impairments in depression using the Vividness of Visual Imagery Questionnaire (VVIQ), attentional network test (ANT), and resting-state functional magnetic resonance imaging (rs-fMRI). The intrinsic activity of attention-related regions relative to those supporting visual mental imagery was identified in depression patients. In addition, a meta-analysis was used to describe the cognitive function related to this intrinsic activity. RESULTS: The global correlation (GCOR) of the right anterior fusiform gyrus (FG) was decreased in depression patients. Attention-related areas were concentrated in the right posterior FG; the anterior and posterior functional connectivity (FC) of the FG was decreased in depression patients. Graph theoretic analysis showed that the degree of the right anterior FG was decreased, the degree of the anterior insula was increased, and the negative connection between these two regions was strengthened in depression patients. In addition, the degree of the right anterior FG, the FC between the subregions of the right FG, and the FC between the right anterior FG and insula were correlated with VVIQ scores; however, this correlation was not significant in depression patients. The meta-analysis suggested that the changes in the anterior FG in depressed patients may stem from difficulties of semantic memory retrieval. CONCLUSION: The changed intrinsic activity of subregions of the FG relative to the semantic memory retrieval may be associated with visual mental imagery impairments in depression.

A data-driven approach for revealing the linkages between differences in electrochemical properties of biochar during anaerobic digestion using automated machine learning.

Biochar is commonly used to enhance the anaerobic digestion of organic waste solids and wastewater, due to its electrochemical properties, which intensify the electron transfer of microorganisms attached to its large surface area. However, it is difficult to create biochar with both high conductivity and high capacitance, which makes selecting the right biochar for engineering applications challenging. To address this issue, two Auto algorithms (TPOT and H2O) were applied to model the effects of different biochar properties on anaerobic digestion processes. The results showed that the gradient boosting machine had the highest predictive accuracy (R2 = 0.96). Feature importance analysis showed that feedstock concentration, digestion time, capacitance, and conductivity of biochar were the main factors affecting methane yield. According to the two-dimensional (2D) partial dependence plots, high-capacitance biochar (0.27-0.29 V·mA) is favorable for substrates with low-solid content (< 19.6 TS%), while the high-conductivity biochar (80.82-170.58 mS/cm) is suitable for high-solids substrates (> 20.1 TS%). The software, based on the optimal model, can be used to obtain the ideal range of biochar for AD trials, aiding researchers in practical applications prior to implementation.

Perceived stress and brain connectivity in subthreshold depression: Insights from eyes-closed and eyes-open states.

Perceived stress is an acknowledged risk factor for subthreshold depression (StD), and fluctuations in perceived stress are thought to disrupt the harmony of brain networks essential for emotional and cognitive functioning. This study aimed to elucidate the relationship between eye-open (EO) and eye-closed (EC) states, perceived stress, and StD. We recruited 27 individuals with StD and 33 healthy controls, collecting resting state fMRI data under both EC and EO conditions. We combined intrinsic connectivity and seed-based functional connectivity analyses to construct the functional network and explore differences between EC and EO conditions. Graph theory analysis revealed weakened connectivity strength in the right superior frontal gyrus (SFG) and right median cingulate and paracingulate gyrus (MCC) among participants with StD, suggesting an important role for these regions in the stress-related emotions dysregulation. Notably, altered SFG connectivity was observed to significantly relate to perceived stress levels in StD, and the SFG connection emerges as a neural mediator potentially influencing the relationship between perceived stress and StD. These findings highlight the role of SFG and MCC in perceived stress and suggest that understanding EC and EO states in relation to these regions is important in the neurobiological framework of StD. This may offer valuable perspectives for early prevention and intervention strategies in mental health disorders.

Echocardiographic findings and pregnancy outcomes for fetuses with complete closure of the ductus arteriosus.

OBJECTIVE: We aimed to analyze the echocardiographic characteristics and pregnancy outcomes for fetuses with premature complete closure of the fetal ductus arteriosus. METHODS: A retrospective analysis was performed for eight cases of premature ductus arteriosus closure diagnosed by prenatal ultrasonography in the Hunan Maternal and Child Health Hospital from July 2019 to August 2022, and the characteristics of fetal echocardiography and pregnancy outcomes of the eight cases were analyzed and summarized. RESULTS: In all cases, the intima of the ductus arteriosus was thickened and occluded, the ductus arteriosus could be seen with slightly hyperechogenic, and no blood flow signal was found in the ductus arteriosus by Doppler ultrasonography. The right heart was enlarged in seven cases, and the whole heart was enlarged in one case. Tricuspid valve regurgitation was observed to different degrees, of which seven cases were severe and one case was moderate. The pulmonary arteries of eight patients had varying degrees of widening. All eight cases were delivered by cesarean section, and one newborn died after follow-up. The prognosis of the other newborns was good. CONCLUSION: The parameters of prenatal echocardiography are helpful for the prognosis of fetuses with premature closure of the ductus arteriosus. Early prenatal detection, close observation, and clinical guidance can be used to select the right time of delivery.

Continuing medical education for attending physicians in anesthesia: Feasibility of an innovative blended learning approach.

Continuing medical education plays a pivotal role in fostering and upholding the standard of excellence in medicine. Both SPOC (small private online course) and BOPPPS (bridge-in, learning objective, pretest, participatory learning, posttest, and summary) methodologies are rooted in the same educational and learning theories, emphasizing active student engagement, interaction, and feedback. Using ultrasound-guided spinal anesthesia as an exemplar, we aimed to investigate the feasibility of blended teaching (combination of BOPPPS and SPOC) for anesthesiology clinicians and explore trainees' and trainers' perspectives towards the innovative method. Twenty-seven attending anesthesiologists were randomly divided into experimental group (n = 14, blended teaching method) and control group (n = 13, traditional teaching method). The questionnaire was administered before and a week post-training. Their operative skills (measured by operation time) were assessed. The students' cognitive evaluation of the blended teaching mode was conducted in the experimental group. The experimental group demonstrated notably higher theoretical scores compared to the control group [(46.42 ±â€…5.345) vs (41.92 ±â€…5.219), t = 2.213, P < .05]. The operation time in the experimental group was significantly shorter than that in the control group [(84.79 ±â€…28.450) seconds vs (114.23 ±â€…35.607) seconds, t = -2.383, P < .05]. Most participants preferred blended learning as it was more effective than traditional learning. Suggestions for enhancement included enhanced online interactivity with trainers and the inclusion of case analysis. Integration of blended teaching incorporating BOPPPS and SPOC methodologies holds promise for enhancing the efficiency of skill training among anesthesiologists. Blended learning may become a viable and well-received option among anesthesia clinicians in China.

[Study on mechanism of icariin-induced ferroptosis in HepG2 hepatoma carcinoma cells through PPARG/FABP4/GPX4 pathway].

The aim of this study was to explore the mechanism of icaritin-induced ferroptosis in hepatoma HepG2 cells. By bioinformatics screening, the target of icariin's intervention in liver cancer ferroptosis was selected, the protein-protein interaction(PPI) network was constructed, the related pathways were focused, the binding ability of icariin and target protein was evaluated by molecular docking, and the impact on patients' survival prognosis was predicted and the clinical prediction model was built. CCK-8, EdU, and clonal formation assays were used to detect cell viability and cell proliferation; colorimetric method and BODIPY 581/591 C1 fluorescent probe were used to detect the levels of Fe~(2+), MDA and GSH in cells, and the ability of icariin to induce HCC cell ferroptosis was evaluated; RT-qPCR and Western blot detection were used to verify the mRNA and protein levels of GPX4, xCT, PPARG, and FABP4 to determine the expression changes of these ferroptosis-related genes in response to icariin. Six intervention targets(AR, AURKA, PPARG, AKR1C3, ALB, NQO1) identified through bioinformatic analysis were used to establish a risk scoring system that aids in estimating the survival prognosis of HCC patients. In conjunction with patient age and TNM staging, a comprehensive Nomogram clinical prediction model was developed to forecast the 1-, 3-, and 5-year survival of HCC patients. Experimental results revealed that icariin effectively inhibited the activity and proliferation of HCC cells HepG2, significantly modulating levels of Fe~(2+), MDA, and lipid peroxidation ROS while reducing GSH levels, hence revealing its potential to induce ferroptosis in HCC cells. Icariin was found to diminish the expression of GPX4 and xCT(P<0.01), inducing ferroptosis in HCC cells, potentially in relation to inhibition of PPARG and FABP4(P<0.01). In summary, icariin induces ferroptosis in HCC cells via the PPARG/FABP4/GPX4 pathway, providing an experimental foundation for utilizing the traditional Chinese medicine icariin in the prevention or treatment of HCC.

Lipopeptide C17 Fengycin B Exhibits a Novel Antifungal Mechanism by Triggering Metacaspase-Dependent Apoptosis in Fusarium oxysporum.

Fusarium wilt is a worldwide soil-borne fungal disease caused by Fusarium oxysporum that causes serious damage to agricultural products. Therefore, preventing and treating fusarium wilt is of great significance. In this study, we purified ten single lipopeptide fengycin components from Bacillus subtilis FAJT-4 and found that C17 fengycin B inhibited the growth of F. oxysporum FJAT-31362. We observed early apoptosis hallmarks, including reactive oxygen species accumulation, mitochondrial dysfunction, and phosphatidylserine externalization in C17 fengycin B-treated F. oxysporum cells. Further data showed that C17 fengycin B induces cell apoptosis in a metacaspase-dependent manner. Importantly, we found that the expression of autophagy-related genes in the TOR signaling pathway was significantly upregulated; simultaneously, the accumulation of acidic autophagy vacuoles in F. oxysporum cell indicated that the autophagy pathway was activated during apoptosis induced by C17 fengycin B. Therefore, this study provides new insights into the antifungal mechanism of fengycin.

3D MR elastography-based stiffness as a marker for predicting tumor grade and subtype in cervical cancer.

BACKGROUND: Increasing evidence has indicated that high tissue stiffness (TS) may be a potential biomarker for evaluation of tumor aggressiveness. PURPOSE: To investigate the value of magnetic resonance elastography (MRE)-based quantitative parameters preoperatively predicting the tumor grade and subtype of cervical cancer (CC). STUDY TYPE: Retrospective. POPULATION: Twenty-five histopathology-proven CC patients and 7 healthy participants. FIELD STRENGTH/SEQUENCE: 3.0T, magnetic resonance imaging (MRI) (LAVA-flex) and MRE with a three-dimensional spin-echo echo-planar imaging. ASSESSMENT: The regions of interest (ROIs) were manually drawn by two observers in tumors to measure mean TS, storage modulus (G'), loss modulus (G″) and damping ratio (DR) values. Surgical specimens were evaluated for tumor grades and subtypes. STATISTICAL TESTS: Intraclass correlation coefficient (ICC) was expressed in terms of inter-observer agreements. t-test or Mann-Whitney nonparametric test was used to compare the complex modulus and apparent diffusion coefficient (ADC) values between different tumor groups. Area under the receiver operating characteristic curve (AUC) analysis was used to evaluate the diagnostic performance. RESULTS: The TS of endocervical adenocarcinoma (ECA) group was significantly higher than that in squamous cell carcinoma (SCC) group (5.27 kPa vs. 3.44 kPa, P = 0.042). The TS also showed significant difference between poorly and well/moderately differentiated CC (5.21 kPa vs. 3.47 kPa, P = 0.038), CC patients and healthy participants (4.18 kPa vs. 1.99 kPa, P < 0.001). The cutoff value of TS to discriminate ECA from SCC was 4.10 kPa (AUC: 0.80), while it was 4.42 kPa to discriminate poorly from well/moderately differentiated CC (AUC: 0.83), and 2.25 kPa to distinguish normal cervix from CC (AUC: 0.88), respectively. There were no significant difference in G″, DR and ADC values between any subgroups except for comparison of healthy participants and CC patients (P = 0.001, P = 0.004, P < 0.001, respectively). DATA CONCLUSION: 3D MRE-assessed TS shows promise as a potential biomarker to preoperatively assess tumor grade and subtype of CC.

Long-term observation of V4c implantable collamer lenses implantation for moderate to extreme high myopia correction: five years follow-up.

BACKGROUND: This study aims to assess the long term effectiveness, safety, predictability and stability of V4c implantable collamer lenses (ICL) for correction of moderate to extreme high myopia. METHODS: We reviewed 125 eyes from 64 patients who implanted V4c ICL at the Refractive Surgery Center of West China Hospital in Chengdu, China, between May 2015 and January 2017. The median spherical equivalent was -11.50 D (interquartile range [IQR]: -13.00 to -9.00 D). We followed up with the patients over five years and evaluated several parameters, including uncorrected visual acuity (UDVA), corrected visual acuity (CDVA), axial length, refractive error, endothelial cell density (ECD), intraocular pressure (IOP), white-to-white distance (WTW), and vault. We performed a correlation analysis to explore the potential impacts on vault following implantation. RESULTS: The median safety index (postoperative CDVA/preoperative CDVA) during the last follow-up was 1.00 (interquartile range [IQR]: 1.00-1.20), and the efficacy indices (postoperative UDVA/preoperative CDVA) were 1.20 (IQR: 1.00-1.25), 1.20 (IQR: 1.00-1.33), and 0.8 (IQR: 0.65-1.00) at postoperative 1 week, 1 month, and 5 years, respectively. At the five-year mark, 16% of the eyes were within ±0.50 D of expected correction, and 73% were within ±2.00 D. No significant difference in ECD was observed between pre-operative and post-operative measurements. Compared to baseline, we observed a significant increase in IOP at the one-week follow-up, which decreased significantly at the one-month visit. Furthermore, we identified ICL size and spherical equivalent (SE) as independent variables in a multiple linear regression model that accurately predicted the five-year vault after surgery. CONCLUSION: In conclusion, V4c ICL implantation is an effective and safe treatment for moderate to extreme high myopia with good predictability and stability over the long-term.

Conservative versus Surgical Approaches in the Treatment of Intracapsular Condylar Fractures: A Retrospective Study.

The diagnosis and management of intracapsular condylar fractures (ICFs) are crucial, and if left untreated, they can cause facial asymmetry, limited mouth opening, and even temporomandibular joint (TMJ) ankylosis, which may affect the physical function and mental health of patients. Various procedures have been described for the ICFs, but there is no consensus on the therapeutic methods. This study aimed to compare the clinical efficacy of conservative and surgical management of ICFs.

Tumor-infiltrating macrophage associated lncRNA signature in cutaneous melanoma: implications for diagnosis, prognosis, and immunotherapy.

Along with the increasing knowledge of long noncoding RNA, the interaction between the long noncoding RNA (lncRNA) and tumor immune infiltration is increasingly valued. However, there is a lack of understanding of correlation between regulation of specific lncRNAs and tumor-infiltrating macrophages within melanoma. In this research, a macrophage associated lncRNA signature was identified by multiple machine learning algorithms and the robust and effectiveness of signature also validated in other independent datasets. The signature contained six specific lncRNAs (PART1, LINC00968, LINC00954, LINC00944, LINC00518 and C20orf197) was constructed, which could diagnose melanoma and predict the prognosis of patients. Moreover, our signature achieves higher accuracy than the previous well-established markers and regarded as an independent prognostic indicator. The pathway enrichment revealed that these lncRNAs were closely correlated with many immune processes. In addition, the signature was associated with different immune microenvironment and applied to predict response of immune checkpoint inhibitor therapy (low risk of patients well respond to anti-PD-1 therapy and high risk is insensitive to anti-CTLA-4 therapy). Therefore, our finding supplies a more accuracy and effective lncRNA signature for tumor-infiltrating macrophages targeting treatment approaches and affords a new clinical application for predicting the response of immunotherapies in melanomas.

Natural compounds efficacy in Ophthalmic Diseases: A new twist impacting ferroptosis.

Ferroptosis, a distinct form of cell death, is characterized by the iron-mediated oxidation of lipids and is finely controlled by multiple cellular metabolic pathways. These pathways encompass redox balance, iron regulation, mitochondrial function, as well as amino acid, lipid, and sugar metabolism. Additionally, various disease-related signaling pathways also play a role in the regulation of ferroptosis. In recent years, with the introduction of the concept of ferroptosis and the deepening of research on its mechanism, ferroptosis is closely related to various biological conditions of eye diseases, including eye organ development, aging, immunity, and cancer. This article reviews the development of the concept of ferroptosis, the mechanism of ferroptosis, and its latest research progress in ophthalmic diseases and reviews the research on ferroptosis in ocular diseases within the framework of metabolism, active oxygen biology, and iron biology. Key regulators and mechanisms of ferroptosis in ocular diseases introduce important concepts and major open questions in the field of ferroptosis and related natural compounds. It is hoped that in future research, further breakthroughs will be made in the regulation mechanism of ferroptosis and the use of ferroptosis to promote the treatment of eye diseases. At the same time, natural compounds may be the direction of new drug development for the potential treatment of ferroptosis in the future. Open up a new way for clinical ophthalmologists to research and prevent diseases.

Association of maternal phthalates exposure and metabolic gene polymorphisms with congenital heart diseases: a multicenter case-control study.

BACKGROUND: The majority of congenital heart diseases (CHDs) are thought to result from the interactions of genetics and the environment factors. This study aimed to assess the association of maternal non-occupational phthalates exposure, metabolic gene polymorphisms and their interactions with risk of CHDs in offspring. METHODS: A multicenter case-control study of 245 mothers with CHDs infants and 268 control mothers of health infant was conducted from six hospitals. Maternal urinary concentrations of eight phthalate metabolites were measured by ultra-high performance liquid chromatography coupled with tandem mass spectrometry (UHPLC-MS/MS). Twenty single nucleotide polymorphisms (SNPs) in cytochrome P450 family 2 subfamily C member 9 (CYP2C9) and 19 (CYP2C19), uridine diphosphate (UDP) glucuronosyl transferase family 1 member A7 (UGT1A7), family 2 member B7 (UGT2B7) and B15(UGT2B15) genes were genotyped. The multivariate logistic regressions were used to estimate the association between maternal phthalates exposure or gene polymorphisms and risk of CHDs. Generalized multifactor dimensionality reduction (GMDR) was used to analyze the gene-gene and gene-phthalates exposure interactions. RESULTS: There was no significant difference in phthalate metabolites concentrations between the cases and controls. No significant positive associations were observed between maternal exposure to phthalates and CHDs. The SNPs of UGT1A7 gene at rs4124874 (under three models, log-additive: aOR = 1.74, 95% CI:1.28-2.37; dominant: aOR = 1.86, 95% CI:1.25-2.78; recessive: aOR = 2.50, 95% CI: 1.26-4.94) and rs887829 (under the recessive model: aOR = 13.66, 95% CI: 1.54-121) were significantly associated with an increased risk of CHDs. Furthermore, the associations between rs4124874 (under log-additive and dominant models) of UGT1A7 were statistically significant after the false discovery rate correction. No significant gene-gene or gene-phthalate metabolites interactions were observed. CONCLUSIONS: The polymorphisms of maternal UGT1A7 gene at rs4124874 and rs887829 were significantly associated with an increased risk of CHDs. More large-scale studies or prospective study designs are needed to confirm or refute our findings in the future.

Serum binding folate receptor autoantibodies lower in autistic boys and positively-correlated with folate.

Folate receptor autoantibody (FRAA) has caught increasing attention since its discovery in biological fluids of patients with autism spectrum disorder (ASD), but quantification and understanding of its function are still in their infancy. In this study, we aimed to quantify serum binding-FRAA and explore its relation with serum folate, vitamin B12 (VB12) and ferritin. We quantitated serum binding-FRAA in 132 ASD children and 132 typically-developing (TD) children, as well as serum levels of folate, VB12 and ferritin. The results showed that serum binding-FRAA in the ASD group was significantly lower than that in the TD group (p < 0.0001). Further analysis showed that the difference between these two groups was attributed to boys in each group, not girls. There was no statistically significant difference in folate levels between the ASD and TD groups (p > 0.05). However, there was significant difference in boys between these two groups, not girls. Additionally, the combination of nitrite and binding-FRAA showed potential diagnostic value in patients with ASD (AUC > 0.7). Moreover, in the ASD group, the level of folate was consistent with that of binding-FRAA, whereas in the TD group, the binding-FRAA level was high when the folate level was low. Altogether, these differences revealed that the low serum FRAA in autistic children was mediated by multiple factors, which deserves more comprehensive investigation with larger population and mechanistic studies.