In recent years, the incidence of dry eye disease(DED)is increasing, positioning it as one of the most prevalent diseases affecting the ocular surface. Inflammatory response is the pathological basis of DED, involving various inflammatory mediators and inflammatory signaling pathways. Consequently, anti-inflammatory treatment emerges as a fundamental strategy for preventing and managing DED. This review summarizes the classic inflammatory factors involved in the development and progression of DED, including interleukins, tumor necrosis factor, matrix metalloproteinases, chemokines, and cell adhesion molecules. It also discusses the relevant inflammatory signaling pathways: the MAPKs pathway, NF-κB pathway, Wnt pathway and TLR pathway. Additionally, this review addresses the mechanisms of action and alterations in relevant biomarkers associated with current first-line recommended anti-inflammatory therapies, including corticosteroids, immunosuppressants, nonsteroidal anti-inflammatory drugs, and traditional Chinese medicine approaches to inflammation management. This comprehensive overview aims to enhance understanding of the inflammatory mechanisms underlying DED while exploring future therapeutic prospects.

In recent years, the incidence of dry eye disease(DED)is increasing, positioning it as one of the most prevalent diseases affecting the ocular surface. Inflammatory response is the pathological basis of DED, involving various inflammatory mediators and inflammatory signaling pathways. Consequently, anti-inflammatory treatment emerges as a fundamental strategy for preventing and managing DED. This review summarizes the classic inflammatory factors involved in the development and progression of DED, including interleukins, tumor necrosis factor, matrix metalloproteinases, chemokines, and cell adhesion molecules. It also discusses the relevant inflammatory signaling pathways: the MAPKs pathway, NF-κB pathway, Wnt pathway and TLR pathway. Additionally, this review addresses the mechanisms of action and alterations in relevant biomarkers associated with current first-line recommended anti-inflammatory therapies, including corticosteroids, immunosuppressants, nonsteroidal anti-inflammatory drugs, and traditional Chinese medicine approaches to inflammation management. This comprehensive overview aims to enhance understanding of the inflammatory mechanisms underlying DED while exploring future therapeutic prospects.

Objective To explore the diagnostic value of a wearable flexible patch ECG instrument in arrhythmia,the alarm situation during clinical application,patient satisfaction and safety.Methods A total of 1 443 subjects wore flexible patch ECG and conventional dynamic ECG(control)for 24 h to test the validity and consistency of arrhythmia diagnosis,and counted the alarm of remote ECG and the occurrence of related adverse events during the wearing of the instrument.Results There were 987 cases of arrhythmia detected by flexible patch ECG and 992 cases by conventional dynamic ECG.The total coincidence rate of arrhythmia diagnosis was 98.7%.The mean heart rate was measured by flexible patch ECG(75.4±11.4)times/min,conventional dynamic heart rate(71.5±12.1)times/min,the intra-group correlation coefficient(ICC)of 2 instruments was 0.892(95%CI:0.537-0.956),with good repeatability.The correct alarm rate of flexible patch ECG was 100%.The incidences of skin pruritus(0.28%vs.1.32%),skin allergy,redness and swelling(0.14%vs.0.69%)and electrode strip shedding(0 vs.0.28%)during wearing the flexible patch electrocardiogram were lower than those of the conventional holter electrocardiogram(P＜0.05).Conclusion The flexible patch ECG has few adverse reactions,high comfort,good safety and clinical applicability.

OBJECTIVE: To explore the genetic basis for a girl featuring bone and tooth mineralization disorder, premature deciduous teeth, rickets and short stature. METHODS: Genomic DNA was extracted and subjected to high-throughput whole exome sequencing. Suspected variants were confirmed by Sanger sequencing. Impact of potential variants was analyzed with bioinformatic software. RESULTS: The child was found to carry compound heterozygous missense variants of the ALPL gene, including c.1130C>T (p.A377V), a known pathogenic mutation inherited from her father, and c.1300G>A (p.V434M) inherited from her mother, which was unreported previously and predicted to be likely pathogenic based on standards and guidelines from the American College of Medical Genetics and Genomics (PM2+PM5+PP3+PP4). CONCLUSION The compound heterozygous variants of c.1130C>T (p.Ala377Val) and c.1300G>A (p.Val434Met) of the ALPL gene probably underlay the disease in this child. Above finding has enriched the spectrum of ALPL gene variants.
Alkaline Phosphatase ; Child ; Female ; Genomics ; High-Throughput Nucleotide Sequencing ; Humans ; Hypophosphatasia/genetics* ; Mutation ; Whole Exome Sequencing

OBJECTIVE: To carry out prenatal diagnosis for a fetus with Pallister-killian syndrome (PKS). METHODS: The fetus was found to have limb malformations at 23rd gestational week. With informed consent from its parents, amniotic fluid sample was taken from the fetus and subjected to chromosomal karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) assay. RESULTS: G-banding analysis suggested the fetus has a mos47,XY,+mar[55]/46,XY[10] karyotype. CMA analysis of the cultured amniocytes with CytoScan 750K microarray revealed a segmental tetrasomy duplication of 12p13.33p11.1. FISH confirmed a 70% mosaicism of tetrasomy 12p in the metaphase amniocytes with 12pter/12qter probes. CONCLUSION Combined use of G-banding karyotyping, CMA and FISH analysis has enabled diagnosis of PKS in the fetus. Although short limb is a common feature of PKS, unequal femur length has not been reported previously, which has expanded the spectrum of PKS-associated limb abnormalities.
Chromosome Disorders/genetics* ; Chromosomes, Human, Pair 12/genetics* ; Female ; Fetus ; Humans ; In Situ Hybridization, Fluorescence ; Mosaicism ; Pregnancy ; Prenatal Diagnosis

Objective:To investigate the changes of T lymphocyte subsets and cytokines in children with he-patitis B virus(HBV)-associated glomerulonephritis (HBV-GN), and their relationship with HBV-DNA load.Methods:Forty-one children who was the first diagnosed with HBV-GN in Department of Pediatrics, the People′s Hospital of Gansu Province and Institute of Infectious Diseases, the First Hospital of Lanzhou University from September 2012 to September 2016 were collected as the objects(HBV-GN group). At the same time, the 40 patients with HBV infection (chronic HBV infection, normal liver and kidney function, normal 24-hour proteinuria quantitation, no hematuria under the microscope, no recent symptoms of cold and fever, etc.) were enrolled as the control group.The levels of T lymphocyte subset, tumor necrosis factor α(TNF-α), interferon-γ (IFN-γ), interleukin (IL)-2, IL-4, IL-6, IL-8 and IL-10 in the HBV-GN group and the control group were compared, and the relationship between HBV-DNA and cell factors was farther analyzed.Results:Compared with the control group, the proportions of CD3 + T, CD4 + T lymphocyte and CD4 + /CD8 + ratio decreased in the HBV-GN group(0.632±0.052 vs.0.692±0.047, 0.204±0.050 vs.0.466±0.038, 0.006±0.002 vs.0.017±0.003, t=1.025, 3.342, 5.234, all P<0.05), and the proportions of CD8 + T lymphocyte was significantly higher than that in the control group (0.411±0.023 vs.0.220±0.043, t=4.452, P<0.01). Besides, IL-2 and IFN-γ levels in the HBV-GN group were significantly lower than those in the control group[(23.36±2.55) ng/L vs.(36.33±1.24) ng/L, (19.20±2.18) ng/L vs.(61.25±2.08) ng/L, all P<0.05], and the serum levels of TNF-α, IL-4, IL-6, IL-8, and IL-10 were significantly higher than those in the control group[(19.60±1.46) ng/L vs.( 6.68±2.32) ng/L, (13.65±3.34) ng/L vs.(1.35±1.52) ng/L, (5.57±1.02) ng/L vs.(1.43±0.57) ng/L, (26.32±3.45) ng/L vs.(9.68±2.55) ng/L, (19.82±2.78) ng/L vs.(1.02±0.56) ng/L, all P<0.01]. Moreover, in HBV-GN patients, there was negative correlation between HBV-DNA load and IFN-γ, IL-2( r=-0.985, -0.943, all P<0.05), and positive relationship in HBV-DNA load with TNF-α, IL-4, IL-6, IL-8 and IL -10 levels( r=0.942, 0.966, 0.953, 0.944, 0.963, all P<0.05). Conclusions:There is an CD4 + /CD8 + imbalance and an abnormal level of cell factors in HBV-GN progression.In further HBV-GN treatment, HBV-DNA and the cell factors should be detected simultaneously to dynamically eva-luate the illness change and the clinical curative effect.

Objective: To study the causes and influencing factors of no seeking medical treatment among pneumoconiosis patients. Methods: Using stratified sampling method and typical survey method, we carried out the questionnaire survey in nine provinces in China including the east, the medium and the western region using a questionnaire on the seeking medical behavior pf pneumoconiosis patients and the influencing factors. The subjects include occupational pneumoconiosis cases and clinically diagnosed cases and the response rate is 94.3 percent. The data was entered twice with epidate3.1 and error detection and statistical analysis was completed with SPSS 20.0. Chi-square test was used for univariate analysis, and multivariate logistic regression was used for multivariate analysis. Results: One thousand and thirty-seven subjects were investigated with average age 55.9±11.2 years. Seventy percent of them were silicosis and 21.9 percent were coal worker’s pneumoconiosis with 67.5 percent of them residing permanently in the countryside, and 37.9 percent of their education background were primary school culture and 33.1 percent of them had junior high school culture. Thirty two point six percent of respondents had no personal income with a median monthly income of 1 200 yuan. Four hundred and thirty four of subjects hadn't seek medical treatment since they got the pneumoconiosis accounting for 41.9 percent with three hundred and thirty seven of them hospitalized directly. The reasons of no seeking medical treatment for the respondents mainly include the self-induction symptoms lighter, the high cost of treatment and cannot claiming the payment of the medical expenses, buying drugs in drugstore, thinking that no medicine can cure pneumoconiosis or no effect, complex procedures, too far away from medical institutions, no unaccompanied, needing a long time or no time, communication disorders, etc. accounting for 44.4 percent, 24.6 percent, 10.9 percent, 9.1 percent, 6.9 percent, 4.4percent, 3.2 percent, 2.9 percent, 1.9 percent, 1.5 percent, respectively. The results of multivariate analysis showed the main characteristics of subjects with restrictions to the outpatient health service utilization are as follows: demographic sociological indicators such as registered permanent residence area is western (OR_western=2.18, 95%CI:1.38-3.43) , more than seventy five years old (OR_{over 75}=6.82, 95%CI:2.04-22.9) , unemployment, temporary or permanent employment (OR _unemployment=1.90, 95%CI:1.17-3.08; OR_{temporary employment}=3.11, 95%CI:1.57-6.14; OR_{permanent employment}=2.10, 95%CI:1.18-3.74) , self-rated health score of 50 or above (OR_{self-rated-70}=2.04, 95%CI:1.18-3.51; OR_{self-rated-90}=3.00, 95%CI:1.97-5.37; OR_{self-rated 90}=2.95, 95%CI:1.74-8.07) ; with increase to the outpatient health service utilization are breath with difficulty (OR=0.57, 95%CI:0.41-0.78) , emphysema (OR=0.48, 95%CI:0.26-0.90) , hospitalized with pneumo-coniosis (OR=0.12, 95%CI:0.07-0.20) . Conclusion Pneumoconiosis patients no covered by injury insurance should be orderly included in the basic medical security system, and be given the medical treatment actively; It should be strengthened the health management for the pneumoconiosis patients and correctly guided the utilization of medical services.

Objective: To evaluate the application of combinatorial probe anchor synthesis (cPAS)-based high-throughput low coverage whole genome sequencing in chromosomal aberration detection in spontaneous miscarriage. Methods: From September 2015 to May 2017, spontaneous miscarriage samples were collected from Inner Mongolia Maternal and Child Health Care Hospital. Those samples were further analyzed with two independent methods, fluorescence in situ hybridization (FISH) and low coverage whole genome sequencing on the BGISEQ-500 high-throughput platform. The performance of low coverage whole genome sequencing was assessed by comparing to FISH results. Results: In 595 spontaneous miscarried specimens, low coverage whole genome sequencing revealed 144 cases (24.2%, 144/595) chromosomal abnormalities, of which a subset of 137 cases (23.0%, 137/595) were detected as aneuploidies, 2 cases (0.3%, 2/595) as mosaicisms and 5 cases (0.8%, 5/595) as copy number variation (≥5 Mb). Conclusion cPAS-based high-throughput low coverage whole genome sequencing is a reliable method in detecting chromosomal aberrations inspontaneous abortion tissues, including chromosome aneuploidies, mosaicisms and copy number variation (≥5 Mb).

Objective To evaluate the application of combinatorial probe anchor synthesis (cPAS)?based high?throughput low coverage whole genome sequencing in chromosomal aberration detection in spontaneous miscarriage. Methods From September 2015 to May 2017, spontaneous miscarriage samples were collected from Inner Mongolia Maternal and Child Health Care Hospital. Those samples were further analyzed with two independent methods, fluorescence in situ hybridization (FISH) and low coverage whole genome sequencing on the BGISEQ?500 high?throughput platform. The performance of low coverage whole genome sequencing was assessed by comparing to FISH results. Results In 595 spontaneous miscarried specimens, low coverage whole genome sequencing revealed 144 cases (24.2%, 144/595) chromosomal abnormalities, of which a subset of 137 cases (23.0%, 137/595) were detected as aneuploidies, 2 cases (0.3%, 2/595) as mosaicisms and 5 cases (0.8%, 5/595) as copy number variation (≥5 Mb). Conclusion cPAS?based high?throughput low coverage whole genome sequencing is a reliable method in detecting chromosomal aberrations inspontaneous abortion tissues, including chromosome aneuploidies, mosaicisms and copy number variation (≥5 Mb).

Objective To investigate the endogenous carnosine,glutathione system and oxidative stress level in serum of patients with diabetic cardiomyopathy(DCM),and the potential relationships among them.Meth-ods The serum of 102 healthy people,96 patients with type 2 diabetes mellitus and 74 patients with diabetic car-diomyopathy in the third affiliated hospital of QiQihar Medical University were enrolled.Carnosine content was mea-sured by ELISA.T-GSH,GSH and GSSG were detected by using micro-enzyme labeling assay.GSH-Px,GST and GRAC were detected by using colorimetry. The content of NO was detected by nitrate reduction method. The con-tent of H2O2was detected by using molybdic acid coloring method. The activities of NOS and CAT was determined by colorimetry. Results Compared with the healthy control group,the average level of human serum carnosine, GSH content,GRAC,GSH/GSSG ratio,GST activity and T-SH content in the DM and DCM group were signifi-cantly reduced(P < 0.05,respectively). NO content,H2O2and iNOS activity were increased,but CAT activity was decreased in DCM group.Conclusion Decreases of levels of serum carnosine and glutathione(GSH)and the imbalance of redox state were observed in patients with diabetic cardiomyopathy,which may promote the occur-rence and development of the diabetic cardiomyopathy.