CdSe Quantum Dots Enable High Thermoelectric Performance in Solution-Processed Polycrystalline SnSe.

Here, a high peak ZT of ≈2.0 is reported in solution-processed polycrystalline Ge and Cd codoped SnSe. Microstructural characterization reveals that CdSe quantum dots are successfully introduced by solution process method. Ultraviolet photoelectron spectroscopy evinces that CdSe quantum dots enhance the density of states in the electronic structure of SnSe, which leads to a large Seebeck coefficient. It is found that Ge and Cd codoping simultaneously optimizes carrier concentration and improves electrical conductivity. The enhanced Seebeck coefficient and optimization of carrier concentration lead to marked increase in power factor. CdSe quantum dots combined with strong lattice strain give rise to strong phonon scattering, leading to an ultralow lattice thermal conductivity. Consequently, high thermoelectric performance is realized in solution-processed polycrystalline SnSe by designing quantum dot structures and introducing lattice strain. This work provides a new route for designing prospective thermoelectric materials by microstructural manipulation in solution chemistry.

All-Scale Hierarchical Structuring, Optimized Carrier Concentration, and Band Manipulation Lead to Ultra-High Thermoelectric Performance in Eco-Friendly MnTe.

MnTe emerges as an enormous potential for medium-temperature thermoelectric applications due to its lead-free nature, high content of Mn in the earth's crust, and superior mechanical properties. Here, it is demonstrate that multiple valence band convergence can be realized through Pb and Ag incorporations, producing large Seebeck coefficient. Furthermore, the carrier concentration can be obviously enhance by Pb and Ag codoping, contributing to significant enhancement of power factor. Moreover, microstructural characterizations reveal that PbTe nanorods can be introduced into MnTe matrix by alloying Pb. This can modify the microstructure into all-scale hierarchical architectures (including PbTe nanorods, enhances point-defect scattering, dense dislocations and stacking faults), strongly lowering lattice thermal conductivity to a record low value of 0.376 W m-1 K-1 in MnTe system. As a result, an ultra-high ZT of 1.5 can be achieved in MnTe thermoelectric through all-scale hierarchical structuring, optimized carrier concentration, and valence band convergence, outperforming most of MnTe-based thermoelectric materials.

Bottom-up design of carbon allotropes with tunable properties.

Carbon materials have received great attention owing to their numerous allotropes and rich properties. Structure design and property tuning of carbon materials is one of the tremendous challenges in the field of materials science research. Here we carried out a bottom-up approach and identified a series of carbon allotropes with similar structures but distinct properties. The structures designed in this work had comparable energy stability to those previously predicted using the top-down global structure search method. Theoretical property calculations demonstrated that the three carbon structures with pure sp3 hybridization possessed semiconductive and superhard properties, while the carbon structure with sp2 + sp3 hybridization exhibited metallic features. Also, they differed significantly in the anisotropy of the mechanical properties. These carbon structures had some match to the unidentified phases in the detonation soot and could hopefully be synthesized by thermal "degassing" of high-pressure Na-C products. Our results propose a strategy to regulate properties through structural tuning, thus paving a way for the design and synthesis of materials with desirable properties.

A novel classification for guiding the surgical approach for cranio-orbital lesions: a single institution case series of 45 cases and a literature review.

We aim to share our experience of the removal of cranio-orbital lesions (COLs) and propose a novel classification to guide the tailored approach selection. We retrospectively reviewed 45 consecutive patients with COLs who underwent surgery performed by the same neurosurgeon between November 2010 and November 2022. The surgical approach was selected according to the anatomical region classification of the COLs. For lesions limited to space A (lateral superior orbital fissure, SOF), the pterion or extended pterion approach (PA or EPA) was used. For lesions limited to space B (extraconal compartment medial SOF, and cavernous sinus CS) and C (intraconal compartment, medial SOF, and CS), the pretemporal transcavernous approach (PTCA) was used. For lesions limited to space D (intraconal compartment and optic canals), the subfrontal approach (SA) was used. For lesions extending into the infratemporal fossa (ITF), the cranio-orbito-zygomatic approach (COZA) was used. For lesions involving pterygopalatine fossa (PPF), the endoscopic transnasal approach (ETNA) was used. We analyzed the clinical manifestations, imaging data, surgical approaches, surgical outcomes, neurological outcomes, and follow-up data. Gross total resection was performed in 35 patients (35/45, 77.8%). SA, PA, EPA, PTCA, COZA, and ETNA were performed in 9, 9, 10, 10, 6, and 1 case(s), respectively. Progression of the residual tumor was observed in 6 cases (1 adenoid cystic carcinoma and 5 meningiomas). Surgical approach selection plays a vital role in patient prognosis. This novel classification based on the involvement of anatomic space could help surgeons select an appropriate approach to remove the COLs.

Two cases report of febuxostat-induced acute liver injury: acute heart failure as a probable risk factor?

Drug induced liver injury, as a sub-type of hepatotoxicity, is rare but practical problem, producing challenges for clinicians. Within the recent two months, two patients with heart failure develop febuxostat-induced acute liver injury during hospital stay. To the best of our knowledge, very few cases of febuxostat-induced hepatotoxicity have been reported up to now. In this paper, two unusual cases of febuxostat-induced acute liver injury are herein described. The medical history, drug treatment, clinical symptoms, liver function tests, diagnosis and prognosis are fully given in this paper. It should be noticed that, two liver injury happen in patients of heart failure with reduced ejection fraction. Whether heart failure is a risk factor of febuxostat related liver injury, deserves further research. This paper reminds the clinicians that more attention should be paid to the acute liver injury caused by febuxostat, and liver function tests are suggested especially for patients of heart failure.

Lattice Distortions and Multiple Valence Band Convergence Contributing to High Thermoelectric Performance in MnTe.

Here, a new route is proposed for the minimization of lattice thermal conductivity in MnTe through considerable increasing phonon scattering by introducing dense lattice distortions. Dense lattice distortions can be induced by Cu and Ag dopants possessing large differences in atom radius with host elements, which causes strong phonon scattering and results in extremely low lattice thermal conductivity. Density functional theory (DFT) calculations reveal that Cu and Ag codoping enables multiple valence band convergence and produces a high density of state values in the electronic structure of MnTe, contributing to the large Seebeck coefficient. Cu and Ag codoping not only optimizes the Seebeck coefficient but also substantially increases the carrier concentration and electrical conductivity, resulting in the significant enhancement of power factor. The maximum power factor reaches 11.36 µW cm-1 K-2 in Mn0.98 Cu0.04 Ag0.04 Te. Consequently, an outstanding ZT of 1.3 is achieved for Mn0.98 Cu0.04 Ag0.04 Te by these synergistic effects. This study provides guidelines for developing high-performance thermoelectric materials through the rational design of effective dopants.

Band Modification and Localized Lattice Engineering Leads to High Thermoelectric Performance in Ge and Bi Codoped SnTe-AgBiTe2 Alloys.

SnTe, emerging as an environment-friendly alternative to conventional PbTe thermoelectrics, has drawn significant attention for clean energy conversion. Here, a high peak figure of merit (ZT) of 1.45 at 873 K in Ge/Bi codoped SnTe-AgBiTe2 alloys is reported. It is demonstrated that the existence of Ge, Bi, and Ag facilitate band convergence in SnTe, resulting in remarkable enhancement of Seebeck coefficient and power factor. Simultaneously, localized lattice imperfections including dislocations, point defects, and micro/nanopore structures are caused by incorporation of Ge, Bi, and Ag, which can effectively scatter heat carrying phonons with different wavelengths and contribute to an extremely low κL of 0.61 W m-1  K-1 in Sn0.92 Ge0.04 Bi0.04 Te-10%AgBiTe2 . Such high peak ZT is achieved by decouples electron and phonon transport through band modification and localized lattice engineering, highlighting promising solutions for advancing thermoelectrics.

Elevated levels of renal function tests conferred increased risks of developing various pregnancy complications and adverse perinatal outcomes: insights from a population-based cohort study.

OBJECTIVES: Physiological changes during pregnancy can affect the results of renal function tests (RFTs). In this population-based cohort study, we aimed to establish trimester-specific reference intervals (RIs) of RFTs in singleton and twin pregnancies and systematically investigate the relationship between RFTs and adverse pregnancy outcomes. METHODS: The laboratory results of the first- and third-trimester RFTs, including blood urea nitrogen (BUN), serum uric acid (UA), creatinine (Crea) and cystatin C (Cys C), and the relevant medical records, were retrieved from 29,328 singleton and 840 twin pregnant women who underwent antenatal examinations from November 20, 2017 to January 31, 2021. The trimester-specific RIs of RFTs were estimated with both of the direct observational and the indirect Hoffmann methods. The associations between RTFs and pregnancy complications as well as perinatal outcomes were assessed by logistic regression analysis. RESULTS: Maternal RFTs showed no significant difference between the direct RIs established with healthy pregnant women and the calculated RIs derived from the Hoffmann method. In addition, elevated levels of RFTs were associated with increased risks of developing various pregnancy complications and adverse perinatal outcomes. Notably, elevated third-trimester RFTs posed strong risks of preterm birth (PTB) and fetal growth restriction (FGR). CONCLUSIONS: We established the trimester-specific RIs of RFTs in both singleton and twin pregnancies. Our risk analysis findings underscored the importance of RFTs in identifying women at high risks of developing adverse complications or outcomes during pregnancy.

Application of Artificial Intelligence to Quantitative Assessment of Fundus Tessellated Density in Young Adults with Different Refractions.

INTRODUCTION: The aim of this study was to quantitatively assess fundus tessellated density (FTD) and associated factors by artificial intelligence (AI) in young adults. METHODS: A total of 1,084 undergraduates (age, 17-23 years old) were enrolled in November 2021. The students were divided into three groups according to axial length (AL): group 1 (AL <24.0 mm, n = 155), group 2 (24 mm ≤ AL <26 mm, n = 578), and group 3 (AL ≥26 mm, n = 269). FTD was calculated by extracting the fundus tessellations as the regions of interest (circle 1, diameter of 3.0 mm; circle 2, diameter of 6.0 mm) and then calculating the average exposed choroid area per unit area of fundus. RESULTS: Among 1,084 students, 1,002 (92.5%) students' FTDs were extracted. The mean FTD was 0.06 ± 0.06 (range, 0-0.40). In multivariate analysis, FTD was significantly associated with male sex, longer AL, thinner subfoveal choroid thickness (SFCT), increased choriocapillaris vessel density (VD), and decreased deeper choroidal VD (all p < 0.05). In circle 1 (diameter of 3.0 mm) and circle 2 (diameter of 6.0 mm), analysis of variance showed that the FTD of the nasal region (p < 0.05) was significantly larger than that of the superior, inferior, and temporal regions. CONCLUSION: AI-based imaging processing could improve the accuracy of fundus tessellation diagnosis. FTD was significantly associated with a longer AL, thinner SFCT, increased choriocapillaris VD, and decreased deeper choroidal VD.

Zanubrutinib Ameliorates Cardiac Fibrosis and Inflammation Induced by Chronic Sympathetic Activation.

(1) Background: Heart failure (HF) is the final stage of multiple cardiac diseases, which have now become a severe public health problem worldwide. ß-Adrenergic receptor (ß-AR) overactivation is a major pathological factor associated with multiple cardiac diseases and mediates cardiac fibrosis and inflammation. Previous research has demonstrated that Bruton's tyrosine kinase (BTK) mediated cardiac fibrosis by TGF-ß related signal pathways, indicating that BTK was a potential drug target for cardiac fibrosis. Zanubrutinib, a second-generation BTK inhibitor, has shown anti-fibrosis effects in previous research. However, it is unclear whether Zanubrutinib can alleviate cardiac fibrosis induced by ß-AR overactivation; (2) Methods: In vivo: Male C57BL/6J mice were treated with or without the ß-AR agonist isoproterenol (ISO) to establish a cardiac fibrosis animal model; (3) Results: In vivo: Results showed that the BTK inhibitor Zanubrutinib (ZB) had a great effect on cardiac fibrosis and inflammation induced by ß-AR. In vitro: Results showed that ZB alleviated ß-AR-induced cardiac fibroblast activation and macrophage pro-inflammatory cytokine production. Further mechanism studies demonstrated that ZB inhibited ß-AR-induced cardiac fibrosis and inflammation by the BTK, STAT3, NF-κB, and PI3K/Akt signal pathways both in vivo and in vitro; (4) Conclusions: our research provides evidence that ZB ameliorates ß-AR-induced cardiac fibrosis and inflammation.

In vivo analysis of ciliary muscle in myopic Chinese young adults using ArcScan Insight® 100.

OBJECTIVE: To analyse the morphological characteristics of the ciliary muscle (CM) and to explore its relationship with different ocular biometric parameters in myopic young Chinese adults. METHODS: This observational, cross-sectional study included 50 right eyes from 50 myopic adults. The CM area (CMA), CM thickness (CMT) and CM length (CML) were measured using the ArcScan Insight® 100. CMT was determined at three points: 1.0 mm (CMT-1), 2.0 mm (CMT-2) and 3.0 mm (CMT-3) posterior to the scleral spur. CML was measured on the scleral (CMLs) and vitreous (CMLv) aspects. The spherical equivalent refraction (SER), axial length (AL) and subfoveal choroidal thickness (SFCT) were examined to determine their associations with CM parameters (CMA, CML and CMT). RESULTS: The mean SER and AL were -4.39 ± 2.29 D and 25.61 ± 1.15 mm, respectively. Compared with the nasal CMA, CML and CMT (CMT-1, CMT-2 and CMT-3) findings, the temporal CM parameters (CMA, CMLs, CMLv, CMT-1, CMT-2 and CMT-3) were found to be significantly thicker (all p < 0.001, except CMLv and CMT-1; p < 0.01). The nasal CMA was associated with the average corneal curvature (r = 0.30, p = 0.03) and SER (r = -0.30, p = 0.04). Nasal and temporal CMT-2 were negatively correlated with SER (r = -0.33 and -0.32, respectively, both p < 0.05). There was no correlation between CM parameters (except nasal CMLs, r = 0.31, p = 0.03) and SFCT, or between CM parameters and either the AL or anterior chamber depth (all p > 0.05). CONCLUSION: These results suggest that there is temporal versus nasal asymmetry of the CM. CMA, CMT or CML did not vary with axial growth of the eye. The CM is not simply stretched as the eye elongates in myopic young adults.

The seroprevalence and kinetics of IgM and IgG in the progression of COVID-19.

BACKGROUND: SARS-CoV-2 is a novel coronavirus first recognized in late December 2019 that causes coronavirus disease 19 (COVID-19). Due to the highly contagious nature of SARS-CoV-2, it has developed into a global pandemic in just a few months. Antibody testing is an effective method to supplement the diagnosis of COVID-19. However, multicentre studies are lacking to support the understanding of the seroprevalence and kinetics of SARS-CoV-2 antibodies in COVID-19 epidemic regions. METHOD: A multicentre cross-sectional study of suspected and confirmed patients from 4 epidemic cities in China and a cohort study of consecutive follow-up patients were conducted from 29/01/2020 to 12/03/2020. IgM and IgG antibodies elicited by SARS-CoV-2 were tested by a chemiluminescence assay. Clinical information, including basic demographic data, clinical classification, and time interval from onset to sampling, was collected from each centre. RESULTS: A total of 571 patients were enrolled in the cross-sectional study, including 235 COVID-19 patients and 336 suspected patients, each with 91.9%:2.1% seroprevalence of SARS-CoV-2 IgG and 92.3%:5.4% seroprevalence of SARS-CoV-2 IgM. The seroprevalence of SARS-CoV-2 IgM and IgG in COVID-19 patients was over 70% less than 7 days after symptom onset. Thirty COVID-19 patients were enrolled in the cohort study and followed up for 20 days. The peak concentrations of IgM and IgG were reached on the 10th and 20th days, respectively, after symptom onset. The seroprevalence of COVID-19 IgG and IgM increased along with the clinical classification and treatment time delay. CONCLUSION: We demonstrated the kinetics of IgM and IgG SARS-CoV-2 antibodies in COVID-19 patients and the association between clinical classification and antibodies, which will contribute to the interpretation of IgM and IgG SARS-CoV-2 antibody tests and in predicting the outcomes of patients with COVID-19.

Knockdown lncRNA CRNDE enhances temozolomide chemosensitivity by regulating autophagy in glioblastoma.

BACKGROUND: The regulatory roles of long non-coding RNA (lncRNA) CRNDE in temozolomide (TMZ) chemoresistance to glioblastoma multiforme (GBM) are still poorly understood. Therefore, the function, characteristics, and possible mechanism of CRNDE in TMZ-induced chemoresistance to GBM were explored. METHODS: Firstly, the expression level of CRNDE in 58 cases of glioma tissue specimens and 30 cases of normal brain tissues were tested by qRT-PCR. Meanwhile, the correlation between CRNDE expression level, the clinicopathological characteristics, and survival time of patients with glioma were analyzed. Then, the CRNDE expression in various glioma cell lines was detected, and CRNDE knockdown cell models were constructed. Subsequently, to explore the effect of CRNDE on chemosensitivity to TMZ, cell viability was detected by the CCK-8 assay and IC50 values, and cell proliferation was detected by cell clone assay and EdU assay, as well as cell survival was detected by apoptosis with flow cytometry under TMZ treatment. Further, the expression of drug-resistance protein ABCG2, autophagy related proteins, and PI3K/Akt/mTOR pathway were measured by western blot or qRT-PCR in TMZ-treated glioma cells. Finally, the mouse tumor xenograft model was established and the tumor volume and weight were measured, and ABCG2 expression was conducted by immunohistochemistry assay. RESULTS: The integrated results demonstrated lncRNA CRNDE was a poor prognosis factor for GBM patient, which was upregulated in patients who were resistant to TMZ, and closely associated with chemotherapeutic response status to TMZ treatment. Further, functional assays revealed that knockdown of CRNDE could notably reduce glioma cell viability and proliferation, and elevate cell apoptosis to enhance the chemosensitivity to TMZ in vitro and in vivo. Mechanistically, the depression of CRNDE could diminish the expression of LC3 II/I, Beclin1 and Atg5 and increase the p62 expression level to inhibit autophagy due to the activation of PI3K/Akt/mTOR pathway as well as highly correlated with ABCG2 expression. CONCLUSIONS: Overall, the study provided that lncRNA CRNDE is a reliable clinical predictor of outcome and prognosis and a potential biomarker for predicting TMZ treatment response in GBM by modulating the autophagy through PI3K/Akt/mTOR pathway and ABCG2 expression which may be a novel therapeutic target for regulating TMZ sensitivity to GBM.

The therapeutic effects of excimer laser coronary atherectomy therapy for in-stent restenosis chronic total occlusions.

OBJECTIVES: To evaluate the safety and efficacy of excimer laser coronary atherectomy (ELCA) in patients with in-stent restenosis chronic total occlusions (ISR CTOs). BACKGROUND: ISR CTOs are a challenge in percutaneous coronary intervention (PCI). Although they can be treated by ELCA, limited data are available on the effects of ELCA treatment in these patients. METHODS: Fifty-nine consecutive patients underwent PCI for ISR CTOs at Beijing Hospital between December 2017 and September 2020. According to whether or not ELCA was performed, they were divided into two groups. Quantitative coronary angiography (QCA) analyses were performed routinely, including measurement of the minimal lumen diameter and calculation of the percentage diameter stenosis. The procedural success rate, the frequency of peri-procedural complications, and the incidence rates of major adverse cardiac events (MACEs) over nine months were assessed. The primary endpoint in the study was the percentage diameter stenosis. RESULTS: Procedure success was achieved in most patients in both groups (75.9%). Patients in the ELCA group exhibited a lower percentage diameter stenosis (24.5 ± 9.09 vs. 35.1 ± 18.6, p = 0.048) and a larger minimal lumen diameter (2.36 ± 0.29 mm vs. 1.78 ± 0.64 mm, p < 0.001) than those in the control group and the 9-month incidence rates of MACEs did not differ (9.5% vs 15.8%, p = 0.699). CONCLUSIONS: This study demonstrated that ELCA may be a safe and effective technique in the treatment of ISR CTOs, and the use of ELCA can achieve good immediate angiographic results, as measured by QCA, without increasing peri-procedural complications or the incidence rates of 9-month MACEs.

Cardiac damage in patients with the severe type of coronavirus disease 2019 (COVID-19).

BACKGROUND: Coronavirus disease 2019 (COVID-19) has become a global pandemic. Studies showed COVID-19 affected not only the lung but also other organs. In this study, we aimed to explore the cardiac damage in patients with COVID-19. METHODS: We collected data of 100 patients diagnosed as severe type of COVID-19 from February 8 to April 10, 2020, including demographics, illness history, physical examination, laboratory test, and treatment. In-hospital mortality were observed. Cardiac damage was defined as plasma hypersensitive troponin I (hsTnI) over 34.2 pg/ml and/or N-terminal-pro brain natriuretic peptide (NTproBNP) above 450 pg/ml at the age < 50, above 900 pg/ml at the age < 75, or above 1800 pg/ml at the age ≥ 75. RESULTS: The median age of the patients was 62.0 years old. 69 (69.0%) had comorbidities, mainly presenting hypertension, diabetes, and cardiovascular disease. Fever (69 [69.0%]), cough (63 [63.0%]), chest distress (13 [13.0%]), and fatigue (12 [12.0%]) were the common initial symptoms. Cardiac damage occurred in 25 patients. In the subgroups, hsTnI was significantly higher in elder patients (≥ 60 years) than in the young (median [IQR], 5.2 [2.2-12.8] vs. 1.9 [1.9-6.2], p = 0.018) and was higher in men than in women (4.2 [1.9-12.8] vs. 2.9 [1.9-7.4], p = 0.018). The prevalence of increased NTproBNP was significantly higher in men than in women (32.1% vs. 9.1%, p = 0.006), but was similar between the elder and young patients (20.0% vs. 25.0%, p = 0.554). After multivariable analysis, male and hypertension were the risk factors of cardiac damage. The mortality was 4.0%. CONCLUSIONS: Cardiac damage exists in patients with the severe type of COVID-19, especially in male patients with hypertension. Clinicians should pay more attention to cardiac damage.

Glycated albumin in pregnancy: reference intervals establishment and its predictive value in adverse pregnancy outcomes.

BACKGROUND: Many efforts have been focused on the alternative glycemic marker glycated albumin (GlyA) and its application in pregnancy during which profound physiological changes take place. Our objective was to determine the reference intervals (RIs) of GlyA in healthy Chinese pregnant women and to assess the predictive value of serum GlyA in adverse pregnancy outcomes. METHODS: Totally 421 healthy subjects including 137 in the first trimester, 152 in the second trimester, and 132 in the third trimester were enrolled from March to July 2019, for the purpose of establishing the trimester-specific RIs of GlyA. In addition, 67 pregnant women diagnosed with GDM were enrolled at 24-28 weeks of gestation. The diagnostic value of GlyA for GDM patients was evaluated and compared with that of fasting plasma glucose (FPG) at 24-28 weeks of gestation. The association between GlyA in the late pregnancy and the adverse pregnancy outcomes was analyzed with the data collected from January to June 2018 at our hospital. RESULTS: The estimated RIs of GlyA in present study were 11.26-15.10%, 10.04-13.50%, and 9.76-13.09% in the first, second, and third trimesters respectively. The areas under receiver operating characteristic (ROC) curves were 0.503 for GlyA and 0.705 for FPG. More importantly, the GlyA level in the third trimester was not more elevated in the patients with adverse pregnancy outcomes including large for gestational age (LGA), preterm delivery, hypertension and preeclampsia (PE). The exception was made with the GDM patients who suffered from postpartum hemorrhage and had significantly higher GlyA levels than the control group. CONCLUSIONS: Our results showed that the GlyA was continuously decreased as the gestational age went up. The GlyA testing has limited value in diagnosing GDM and predicting adverse pregnancy outcomes.

Prevalence of metabolic syndrome among ethnic groups in China.

BACKGROUND: Metabolic syndrome (MetS) is common in China, which has a multi-ethnic population of 1·3 billion. We set out to determine the prevalence of MetS and its components in different ethnic groups. METHODS: This nationwide cross-sectional survey involved 24,796 participants from eight ethnicities in six provinces in China from 2008 to 2011. MetS was defined using the modified National Cholesterol Education Program Adult Treatment Panel III criteria. Results were analysed using SPSS version 22·0 in 2018. Logistic regression was used for deriving odds ratios and 95% confidence intervals of risk factors for the MetS. RESULTS: The prevalence of MetS increased with age from 3·60% to 21·68%. After age standardization, the prevalence of MetS, in descending order, was 35·42% (Korean), 22·82% (Hui), 19·80% (Han), 13·72% (Miao), 12·90% (Tujia), 12·04% (Li), 11·61% (Mongolian), 6·17% (Tibetan). Korean ethnicity was associated with a higher prevalence in five components of MetS, while Tibetan ethnicity was associated with lower prevalence except decreased HDL cholesterol. Logistic regression analyses showed that age, drinking and being non-Tibetan were associated with a higher risk of MetS. CONCLUSIONS: Within one country, albeit a large one, the prevalence of MetS can vary greatly. Chinese of Korean ethnicity had a much higher prevalence than Tibetan ethnicity. Measures to tackle MetS should be tailored to the ethnic groups within a population.

Whole-exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome.

BACKGROUND: Autosomal recessive Robinow syndrome (ARRS) is a rare genetic disorder, which affects the development of multiple systems, particularly the bones. OBJECTIVES: The aim of this study was to investigate the genetic cause of a ARRS fetus and to evaluate the reliability of whole-exome sequencing (WES) in prenatal diagnosis on cases with indistinguishable multiple malformation. METHODS: Clinical and ultrasonic evaluations were conducted on the fetus, and multiplatform genetic techniques were used to identify the variation responsible for RS. The pathogenicity of the novel variation was evaluated by in silico methods. Western blotting (WB) and immunohistochemistry (IHC) were performed on fetal tissues after the fetus' stillbirth and postabortal autopsy. RESULTS: A compound heterozygous variation consisting c.613C > T and c.904C > T in ROR2 gene was identified. In silico prediction suggested that c.904C > T was a deleterious variant. IHC result demonstrated that ror2 expression level of the proband in osteochondral tissue significantly increased comparing with that of the control sample. CONCLUSIONS: For the first time in Chinese population, we characterized a novel variation in ROR2 gene causing ARRS. This study extended the mutation spectrum of ARRS and provided a promising strategy for prenatal diagnosis of cases with ambiguous multiple deformities.

Simultaneous quantitation of four androgens and 17-hydroxyprogesterone in polycystic ovarian syndrome patients by LC-MS/MS.

BACKGROUND: Due to the low concentration of androgens in women and the limitation of immunoassays, it remains a challenge to accurately determine the levels of serum androgens in polycystic ovary syndrome (PCOS) patients for clinical laboratories. In this report, a liquid chromatography-tandem mass spectrometry (LC-MS/MS) method was developed and validated for simultaneous quantitation of testosterone (T), androstenedione (A4), dehydroepiandrosterone sulfate (DHEAS), dihydrotestosterone (DHT), and 17-hydroxyprogesterone (17-OHP) that are associated with PCOS. METHODS: The serum samples were processed by protein precipitation and solid phase extraction before analysis with the in-house developed LC-MS/MS. The chromatographic separation was achieved with a C18 column, using a linear gradient elution with two mobile phases: 0.02% formic acid in water (phase A) and 0.1% formic acid in methanol (phase B). The separated analytes were detected by positive or negative electrospray ionization mode under multiple reaction monitoring (MRM). RESULTS: The assay for all the five analytes was linear, stable, with imprecision less than 9% and recoveries within ±10%. The lower limits of quantification were 0.05, 0.05, 5, 0.025, and 0.025 ng/mL for T, A4, DHEAS, DHT, and 17-OHP, respectively. In the receiver operating characteristic curve (ROC) analyses with the PCOS (n = 63) and healthy (n = 161) subjects, the AUC of the four-androgen combined was greater than that of any single androgen tested in PCOS diagnosis. CONCLUSIONS: The LC-MS/MS method for the four androgens and 17-OHP showed good performance for clinical implementation. More importantly, simultaneous quantitation of the four androgens provided better diagnostic power for PCOS.

Lipidomic profiling of amniotic fluid and its application in fetal lung maturity prediction.

BACKGROUND: The pulmonary surfactant especially lipids in amniotic fluid can reflect the development stage of fetal lung maturity (FLM). However, the conventional lecithin/sphingomyelin (L/S) ratio method by thin layer chromatography (TLC) is insufficient and inconvenient for FLM prediction in clinical practice. METHODS: The amniotic fluid samples were collected from the pregnant women in labor or undergoing amniocentesis and analyzed for its lipid contents with the liquid chromatography coupled with high-resolution mass spectrometry (LC-HRMS) method and the lamellar body count (LBC) method. To reveal the lipidomic profiling of different FLM stages, three groups of amniotic fluid samples including 8 from premature group (gestational week (GW) < 37), 10 from mature group (GW < 37), and 10 from mature group (GW > 38) were compared with the control group (n = 6) of 18 GWs separately. RESULTS: In the FLM prediction study, the sensitivity of the LC-HRMS method and LBC method was 91% and 73%, respectively; the specificity was 100% and 95%, respectively. The most significant metabolic pathway was linoleic acid metabolism between the premature group and the control group. Both glycerophospholipid metabolism and glycosylphosphatidylinositol-anchor biosynthesis were enriched in the mature groups. In search of potential FLM prediction markers in amniotic fluid, 8 phosphatidylcholines, 1 sphingomyelin, and 1 phosphatidylethanolamine were significantly increased in the mature groups compared with the premature group. CONCLUSION: An efficient LC-HRMS method for L/S ratio in predicting FLM was established. The linoleic acid metabolism may play an important role in the fetal lung development.