Tailoring monogenic disease carrier screening panels for Chinese populations: The importance of considering regional differences.

Carrier screening for monogenic diseases is becoming increasingly important in preventive medicine, yet selecting appropriate target genes remains a complex task, especially in countries with significant ethnic and geographic diversity such as China. This study aimed to develop a strategy to screen for carrier screening target genes suitable for the Chinese population, considering regional variations in carrier frequencies (CFs). We analyzed a dataset from a large-scale, multicenter carrier screening study, encompassing 33,104 individuals from different regions of China and carrier status for 223 genes.

Green extraction and IC analysis of trace impurities in TATB through deep eutectic solvents.

1,3,5-trinamino-2,4,6-trinitrobenzene (TATB) as an important insensitive high explosive has excellent safety performance due to strong hydrogen bonds. Ionic impurities including sulfate ions (SO), nitrate ions (NO) and chloride ions (Cl) formed during the preparation of TATB have negative effects on TATB-based explosives. However, strong hydrogen bonds result in extremely low solubility of TATB in traditional solvents, which poses a huge obstacle to extract and detect the impurities in TATB for quality control.

circZNF532 promotes endothelial-to-mesenchymal transition in diabetic retinopathy by recruiting TAF15 to stabilize PIK3CD.

Endothelial-to-mesenchymal transition (EndMT) is a pivotal event in diabetic retinopathy (DR). This study explored the role of circRNA zinc finger protein 532 (circZNF532) in regulating EndMT in DR progression. Human retinal microvascular endothelial cells (HRMECs) were exposed to high glucose (HG) to induce the DR cell model.

USP14 Regulates ATF2/PIK3CD Axis to Promote Microvascular Endothelial Cell Proliferation, Migration, and Angiogenesis in Diabetic Retinopathy.

Diabetic retinopathy (DR) is one of the leading causes of blindness in diabetic patients. However, the pathogenesis of DR is complex, and no firm conclusions have been drawn so far. It has become a hot spot in ophthalmology research to deeply study the mechanism of DR pathological changes and find effective treatment options.

Up-regulation of miR-192-5p inhibits the ELAVL1/PI3Kδ axis and attenuates microvascular endothelial cell proliferation, migration and angiogenesis in diabetic retinopathy.

Background: Diabetic retinopathy (DR) is a common complication of diabetes mellitus that poses a threat to adults. MicroRNAs (miRNAs) play a key role in DR progression. However, the role and mechanism of miR-192-5p in DR remain unclear.

Degradation of Typical Reverse Sand-Mudstone Interbedded Bank Slope Based on Multi-Source Field Experiments.

The bank slopes in the Three Gorges Reservoir area (TGRA) have experienced obvious deterioration under the action of the periodic fluctuations in the reservoir water level. Generally, laboratory tests have been used to reveal the evolution trend of the slope banks. However, this method has a certain degree of cross-scale problem, especially for the mechanical state in a complex environment.

LncRNA SNHG1 targets miR-340-5p/PIK3CA axis to regulate microvascular endothelial cell proliferation, migration, and angiogenesis in DR.

Diabetic retinopathy (DR) is a serious long-term complication of diabetes. However, the current treatment of DR is still challenging. We aimed to investigate the role of lncRNA SNHG1/miR-340-5p/PIK3CA in DR and the mechanisms involved.

Study on performance and mechanism of enhanced low-concentration ammonia nitrogen removal from low-temperature wastewater by iron-loaded biological activated carbon filter.

In order to strengthen the treatment of low-concentration ammonia nitrogen wastewater at low temperature, iron-loaded activated carbon (Fe-AC) with ultrasonic impregnation method was used as the filter material of biofilter process. The performance and mechanism of ammonia nitrogen removal from simulated secondary wastewater by iron-loaded biological activated carbon filter (Fe-BACF) were studied at 10 °C. The characterization results showed that iron was loaded on the surface of AC in the form of FeO, and the specific surface area, total pore volume, pore size and alkaline functional group content of Fe-AC were obviously increased.

Environmental contamination with SARS-CoV-2 in COVID-19 hospitals in Wuhan, China, 2020.

Coronavirus disease 2019 (COVID-19) pandemic has caused high number of infections and deaths of healthcare workers globally. Distribution and possible transmission route of SARS-CoV-2 in hospital environment should be clarified. We herein collected 431 environmental (391 surface and 40 air) samples in the intensive care unit (ICU) and general wards (GWs) of three hospitals in Wuhan, China from February 21 to March 4, 2020, and detected SARS-CoV-2 RNA by real-time quantitative PCR.

Association of circulating leptin and adiponectin levels with colorectal cancer risk: A systematic review and meta-analysis of case-control studies.

Purpose: Leptin and adiponectin are adipokines which have been commonly implicated in carcinogenesis. As such, many studies have investigated the association of circulating leptin and adiponectin levels with colorectal cancer (CRC) risk. However, the results remained inconsistent.

Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome.

Duane retraction syndrome (DRS) is a neuromuscular dysfunction of the eyes. Although many causative genes of DRS have been identified in Europe and the United States, few reports have been published in regard to Chinese DRS. The aim of the present study was to explore the genetic defect of DRS in a Chinese family.

Study on adsorption of ammonia nitrogen by iron-loaded activated carbon from low temperature wastewater.

In order to improve the adsorption efficiency of ammonia nitrogen in low temperature wastewater, the modified activated carbon (Fe-AC) was prepared by impregnation-calcination modification of Fe(NO). The characterization results indicated that the total pore volume, specific surface area and the point of zero charge of activated carbon increased after modification. A better adsorption effect was achieved under neutral condition than under alkaline or acidic condition.

Monitoring and Handing of 89Sr Injection Site Extravasation in a Patient With Breast Cancer.

Extravasation of various imaging tracers during administration was not a rare complication during nuclear medicine practice. However, the occurrence of extravasation of therapeutic radiopharmaceutical was rarely reported. Here we reported a 60-year-old woman with breast cancer and diffuse painful bone metastases who received strontium chloride (SrCl2) therapy to palliate her bone pain.

Numerical simulation data on landslide generated impulse waves affected by the reservoir geometry.

The data article provided time series of water surface elevation and wave parameters of landslide generated impulse waves affected by reservoir geometry. Two types of generalized reservoir geometries were investigated by the numerical method of Tsunami Squares-converging reservoir geometries and diverging reservoir geometries. 14 numerical reservoir models with expansion angle of 0°, 5°, 10°, 15°, 20°, 25° and 30° were performed.

Aquatic life criteria derivation and ecological risk assessment of DEET in China.

N,N-diethyl-meta-toluamide (DEET) is the most widely used active ingredient in commercial insect repellents. In addition to its adverse effects in insects, DEET can affect non-target organisms in surface water systems. Nevertheless, the aquatic life criteria of DEET are not available.

miR-152/LIN28B axis modulates high-glucose-induced angiogenesis in human retinal endothelial cells via VEGF signaling.

Diabetic retinopathy (DR) is a serious complication of diabetes contributing to blindness in patients. Inhibiting retinal neovascularization is a potent strategy for diabetic retinopathy treatment. Reportedly, the stable expression of lin-28 homolog B (LIN28B), a member of the highly conserved RNA-binding protein LIN28 family, could promote vascular endothelial growth factor (VEGF) expression; herein, we investigated the role and mechanism of LIN28B in diabetic retinopathy progression from the perspective of microRNA (miRNA) regulation.

Correction to: Liaoning Score for Prediction of Esophageal Varices in Cirrhotic Patients Who Had Never Undergone Endoscopy: A Multicenter Cross-Sectional Study in Liaoning Province, China.

Unfortunately, the fourteenth author's name was incorrectly published in the Original Article. The correct author name is Cen Hong.

Microarray Analysis of Long Non-Coding RNAs and Messenger RNAs in a Mouse Model of Oxygen-Induced Retinopathy.

Retinal neovascularization is a severe complication of many ocular diseases. To clarify the possible functions and therapeutic potential of long non-coding RNAs (lncRNAs) and messenger RNAs (mRNAs) in retinal neovascularization, we assessed their expression profile in a mouse model of oxygen-induced retinopathy (OIR). Microarray analysis was performed to identify altered lncRNA and mRNA expressions between OIR and control mice.

Liaoning Score for Prediction of Esophageal Varices in Cirrhotic Patients Who Had Never Undergone Endoscopy: A Multicenter Cross-Sectional Study in Liaoning Province, China.

Background And Aims: Endoscopy is necessary for assessment of esophageal varices (EVs) in cirrhotic patients, but its use is limited because of the poor compliance of patients and shortage of public health resources at primary hospitals or rural areas, especially in less well developed countries. A multicenter cross-sectional study aimed to establish a novel non-invasive score for prediction of EVs in cirrhotic patients who had never undergone endoscopy.

Methods: Patients with liver cirrhosis regardless of acute upper gastrointestinal bleeding (AUGIB) who underwent the first-time upper gastrointestinal endoscopy at 11 hospitals in Liaoning Province, China were considered.

CDK7 activated beta-catenin/TCF signaling in hepatocellular carcinoma.

Over-activation of beta-catenin/TCF signaling is very common in the progression of hepatocellular carcinoma (HCC). The molecular mechanisms leading to the aberrant activation of beta-catenin/TCF signaling are not fully understood. In this study, it was found that CDK7 was up-regulated in HCC tissues and its expression inversely correlated with the survival of HCC patients.

A novel method for landslide displacement prediction by integrating advanced computational intelligence algorithms.

Landslide displacement prediction is considered as an essential component for developing early warning systems. The modelling of conventional forecast methods requires enormous monitoring data that limit its application. To conduct accurate displacement prediction with limited data, a novel method is proposed and applied by integrating three computational intelligence algorithms namely: the wavelet transform (WT), the artificial bees colony (ABC), and the kernel-based extreme learning machine (KELM).

Ultrafast spectroscopic study of the photochemistry and photophysics of arylhalodiazirines: direct observation of carbene and zwitterion formation.

Ultrafast photolysis (lambdaex = 270, 350, or 360 nm) of bromophenyl, chlorophenyl, fluorophenyl, and fluoro-para-trifluoromethylphenyl diazirines produces transient species which absorb broadly in the UV and visible regions. Transient decay can be fit to either mono- or biexponential functions (tau1 approximately 0.3-10 ps, tau2 approximately 10-350 ps; dependent on solvent and halogen).

Fragmentation of 2,2,2-triphenylethoxychlorocarbene: evidence for ultrafast fragmentation-rearrangement in excited diazirines.

[reaction: see text] Photolysis of 3-(2,2,2-triphenylethoxy)-3-chlorodiazirine gives 2,2,2-triphenylethoxychlorocarbene which fragments with 1,2-phenyl migration and loss of CO and Cl(-) to yield the 1,1,2-triphenylethyl cation and thence 1,1,2-triphenylethene by proton loss. However, ps and fs laser flash photolysis provides evidence that up to 25% of the alkene product stems from carbocation that arises directly from excited diazirine rather than from the carbene.

Endo entry to the nortricyclyl-norbornenyl cation system: stereochemistry in the fragmentation of endo-5-norbornenyl-2-oxychlorocarbene.

Fragmentation of (S)-endo-5-norbornenyl-2-oxychlorocarbene [(S)-8] in cyclohexane-d12 gives approximately 20% (S)-endo-2-chloro-5-norbornene [(S)-7] with approximately 50% ee, 65-70% (R)-exo-2-chloro-5-norbornene [(R)-4] with >95% ee, and approximately 12% (R)-3-nortricyclyl chloride [(R)-5] with approximately 22% ee. (Analogous stereochemical results were also obtained starting with the enantiomeric carbene (R)-8.) The (S)-8 to (S)-7 and (S)-8 to (R)-4 conversions are ascribed mainly to retention and inversion S(N)i transition states, respectively.