Early diagnosis and treatment of gastric cancer may improve the prognosis of the disease.At present,the diagnosis of gastric cancer depends on gastric endoscopy and histopathology,which is invasive and expensive and not suitable for screening in the large population.Non-invasive screening method is essential for the early detection of cancer.This article reviewed the advances in research on related biomarkers of gastric cancer so as to increase the early detection of gastric cancer and survival rate of patients.

Diabetes mellitus is a metabolic disorder characterized by hyperglycemia and has become a com-mon chronic disease worldwide.Mitochondria play key roles in energy production,signal transduction and apoptosis.Mi-tochondrial dysfunction is an important factor that promotes the development of diabetes and its complications.Maintaining mitochondrial function is expected to have a therapeutic effect on diabetes and its complications.Mitochondria can be transferred between cells,replacing dysfunctional mitochondria with exogenous healthy mitochondria and thereby reversing cell damage.Mitochondrial transfer through actin-based tunnel nanotubes,extracellular vesicles,connexins,cell fusion and extrusion has been shown to restore the bioenergetics of damaged mammalian cells.In addition,mitochondrial trans-plantation,which is an innovative strategy to treat mitochondrial diseases by increasing and replacing mitochondria,has at-tracted increasing attention.This article focuses on improving mitochondrial function in damaged cells as an entry point for the treatment of diabetes and its complications,focusing on the role of mitochondrial transfer among cells in diabetes and its complications.

Objective To explore the difference of balance ability between patients with chronic nonspecific low back pain ( CNLBP) and healthy individuals, and the correlation between patients’ pain symptoms, lumbar flexibility, abdominal muscle endurance, overall function, quality of life and fear of avoidance with balance ability, so as to guide clinical rehabilitation evaluation. Methods A total of 34 patients with CNLBP were selected as the experimental group, and 34 healthy volunteers without history of low back pain were selected as control group. The plantar pressure measurement system was used to collect the ratio of forefoot to hindfoot pressure, pathlength ( L) of plantar center of pressure ( COP), displacement length in anteroposterior direction ( LAP ), displacement length in mediolateral direction (LML ), mean velocity (v), displacement velocity in anteroposterior direction (vAP ), displacement velocity in mediolateral direction (V-ML) and elliptical swing area (S). In addition,the experimental group was assessed by the visual analogue scale (VAS), the finger floor distance (FFD), the number of sit-ups in 1 minute, the Oswestry disability index (ODI), the 36-item short form survey (SF-36) and the fear avoidance beliefs questionnaire (FABQ), and correlated with plantar pressure parameters. Results All plantar pressure parameters were significantly different between the two groups ( P < 0. 05). The the ratio of forefoot to hindfoot pressure in experimental group was significantly lower than that in control group (P<0. 05), and the parameters L, LAP , LML , v, vAP , vML and S were significantly higher than those of control group (P<0. 05). With eyes open or closed, the VAS score of experimental group was positively correlated with L, LAP , LML(P<0. 05), and FFD and FABQ scores were positively correlated with L and LML , respectively (P< 0. 05). With eyes open, ODI was positively correlated with L, LAP and LML (P< 0. 05), and SF-36 score was negatively correlated with L and LML(P<0. 05). With eyes closed, the number of 1-min sit-ups was negatively correlated with LAP and S (P<0. 05), ODI was positively correlated with L and LML(P<0. 05), and the SF-36 score was negatively correlated with L (P<0. 05). Conclusions The static balance ability of patients with CNLBP is decreased, and it is correlated with pain symptoms, lumbar function, quality of life and psychological status. The result can provide references for the assessment of functional activities.

Objective To explore the feasibility of individual identification based on the 2D-3D face image superimposition in Han individuals.Methods The 2D video surveillance images(including front,left and right side)and high-precision 3D face models of 10 Han individuals were collected,and Autodesk 3ds Max 2018 software was used to perform perspective matching on the 3D face models,and superimposed them on the 2D images,and the mean values of the distances between corresponding 11 feature points in the 2D-3D face images were calculated.The superimposition of 2D-3D face images from the same individual was defined as the matching group,and the superimposition of 2D-3D face images from different individuals was defined as the non-matching group.Results In general,the average distance ranges of the corresponding feature points between the matching group and the non-matching group did not overlap(P<0.05).Conclusion The non-overlapping mean range preliminarily indicates that the individual identification method based on the overlay comparison of 2D-3D face images described in this paper is feasible for Han individuals.

Objective:To study the expression of zonula occludens-1(ZO-1) in neonates with necrotizing enterocolitis (NEC) and to explore the effects of disialyllacto-N-tetraose (DSLNT), a compound extracted from human milk, on the intestinal barriers in rat model of NEC.Methods:(1) Human study: From Feb 2013 to Dec 2020, the pathological samples of ileum tissue from 21 neonates (12 patients with NEC and 9 with intestinal atresia) from Pathology Department of our hospital were collected. The expressions of ZO-1 in these samples were examined using immunohistochemistry (IHC) method. (2) Animal study: A total of 28 newborn rats were randomly assigned into control group ( n=8), NEC group ( n=10) and DSLNT+NEC group ( n=10). Experimental NEC model was established based on hypoxia (95%N 2 10 min) /cold exposure (4 ℃ 10 min) three times a day for consecutive 3 days. DSLNT+NEC group were fed with formula+DLSNT (300 μmol/L) during hypoxia/cold exposure. All the surviving rats were sacrificed at the end of the experiment (72 h) and the terminal ileum tissues were collected. Hematoxylin-Eosin (HE) staining was used to evaluate tissue damage and Western blotting was used to determine the expressions of ZO-1. (3) Cellular study: Bacterial lipopolysaccharide (LPS) was used to establish a cellular inflammation model in human intestinal epithelial cell lines (Caco-2) and DSLNT (300 μmol/L) was applied to this model. Thiazolyl blue assay was used to examine cell viabilities and immunofluorescence assay was used to detect ZO-1 expression. The effects of DSLNT on cell growth and tight junctions of Caco-2 cells were analyzed. Results:(1)Human study: The villi of mucous layer of the lesion were damaged in NEC patients. ZO-1 expressions at the epithelial junction of NEC patients were decreased compared with intestinal atresia patients and non-lesion intestines of NEC patients. (2)Animal study: Apical extrusion, necrosis and shedding of epithelial cell were seen at the lesions in NEC group. The expression of ZO-1 in NEC group was significantly lower than the control group and DSNLT+NEC group ( P<0.05).DSNLT+NEC group had higher survival rates (8/10 vs. 6/10) and lower ileum inflammatory pathological scores [2.0(1.0, 2.8) vs. 3.5(3.0, 4.0)] than NEC group. (3) Cellular study: Caco-2 cells exposed to LPS showed inhibited cell growth and decreased ZO-1 immunofluorescence staining. Caco-2 cells in the DSLNT+LPS group showed better viability than LPS group and were comparable with the control group. The expression of ZO-1 was significantly increased in the DSLNT+LPS group. Conclusions:Tight junction injury of the intestinal epithelial cell is an important characteristic of NEC. ZO-1 is a potential target for the prevention and treatment of NEC. DSLNT may protect the neonatal intestines by modulating the expression of ZO-1 and keeping tight junction integrity.

Objective:To investigate the influencing factors of endotracheal intubation and mechanical ventilation (ETI-MV) in patients with acute respiratory distress syndrome (ARDS) caused by viral pneumonia, and to provide evidence for individualized use of ETI-MV.Methods:Patients with ARDS due to viral pneumonia admitted to the respiratory intensive care unit (RICU) of the First Affiliated Hospital of Xinjiang Medical University were retrospectively analyzed from November 2017 to March 2022. The gender, age, concomitant diseases, clinical symptoms and signs, complications, lab results, ARDS severity, infectious virus type, acute physiology and chronic health evaluation Ⅱ (APACHE Ⅱ), respiratory support methods and prognosis-related variables were collected. Univariate analysis was performed on each factor, and the variables with statistical significance in the univariate analysis were subjected multivariate logistic regression analysis. The receiver operating characteristic curve (ROC curve) was drawn to evaluate the predictive value of each index for the implementation of ETI-MV.Results:A total of 117 patients were enrolled in the study, including 61 patients in the ETI-MV group, and 3 patients (4.9%), 39 patients (63.9%) and 19 patients (31.1%) with mild, moderate and severe ARDS, respectively. There were 56 patients in non-ETI-MV group, and the mild, moderate and severe ARDS cases were 16 cases (28.6%), 38 cases (67.8%) and 2 cases (3.6%), respectively. There was significant difference between the two groups ( P < 0.05). Univariate analysis showed that during 24 hours admitted to RICU, the levels of interleukin-6 [IL-6 (ng/L): 104.0±90.0 vs. 62.4±76.0], oxygenation index [PaO 2/FiO 2 (mmHg, 1 mmHg≈0.133 kPa): 123.9±30.9 vs. 173.6±28.5], the proportion of cases with pulmonary infiltrating opacity distribution range ≥ 3/4 lung fields [85.3% (52/61) vs. 21.5% (12/56)], APACHE Ⅱ score ≥ 16.5 [67.2% (41/61) vs. 42.9% (24/56)], the rate of nosocomial invasive aspergillus infection [14.8% (9/61) vs. 3.6% (2/56)], the percentage of nosocomial bacterial infection [16.4% (10/61) vs. 3.6% (2/56)], and the lowest CD4 + T lymphocyte count in the course of the disease [cells/mm 3: 192.2±35.8 vs. 215.0±58.3] had significant differences between ETI-MV and non-ETI-MV group (all P < 0.05). Multivariate Logistic regression analysis showed that during 24 hours admitted to RICU the distribution range of pulmonary infiltrating opacity ≥ 3/4 the lung fields [odds ratio ( OR) = 12.527, 95% confidence interval (95% CI) = 3.279-47.859, P < 0.001], APACHE Ⅱ score ≥ 16.5 ( OR = 30.604, 95% CI = 4.318-216.932, P = 0.001), PaO 2/FiO 2 ( OR = 0.948, 95% CI = 0.925-0.972, P < 0.001), CD4 + T lymphocytes cell count ( OR = 0.975, 95% CI = 0.955-0.995, P = 0.015), and nosocomial bacterial infection ( OR = 38.338, 95% CI = 1.638-897.158, P = 0.023) were independent risk factors for ETI-MV. The area under the ROC curve (AUC) of ROC showed that PaO 2/FiO 2 had the greatest predictive value for ETI-MV, with AUC of 0.903, sensitivity of 91.1% and specificity of 95.1% in case of cutoff value of 151 mmHg. The AUC of pulmonary infiltrating opacity distribution range was 0.809, the sensitivity of 85.2%, specificity of 78.6% when the cutoff value was ≥ 3/4 lung field. APACHE Ⅱ scores had the lowest predictive value for selecting ETI-MV, with AUC of 0.704, sensitivity of 83.6% and specificity of 57.1% under the cutoff value was 16.5. Conclusions:For patients with ARDS caused by viral pneumonia, PaO 2/FiO 2 is still the classic reference for selecting ETI-MV, however, the distribution range of pulmonary infiltrating opacity and the systemic severity of the disease during 24 hours admitted to the RICU may provide supplemental helpful information to determine whether the patients choose ETI-MV, especially for moderate ARDS.

Objective:To analyze pathogenic variant s of KMT2A gene in a child with Wiedemann-Steiner syndrome (WDSTS) and provide reliable evidences for clinical diagnosis of WDSTS. Methods:Whole-DNAs were extracted from an 9 years-old boy and his parents. Trio-whole exome sequencing (trio-WES) was performed to identify candidate pathogenic variants that can explain the boy’s condition and sanger sequencing was conducted to prove it. The impact of detected variants were predicted and validated by bioinformatics tools.Results:A de novo frameshift variant c. 10488dupG (p.Leu3498Thrfs*41) in exon 27 of KMT2A gene was detected and this de novo variant (PS2) had not been reported in the world previously. This frameshift variant was absent in major allele frequency databases (PM2) and had been predicted to be pathogenic based on MutationTaster. Through HomoloGene and CD-search system, the 3498 locus (Leu) in KMT2A protein, which was an important histone modifying enzyme that regulated gene expression in early embryonic development and encoded by the KMT2A gene, was predicted as a high conserved locus (PP3), and that replacement of Lue3498 may result in frame-shifts with premature termination in 3539 locus by introducing stop codon, causing deletion of multiple functional domains which all played important roles on histone modifications and recognition (PVS1+ PM1). According to the American College of Medical Genetics and Genomics variant classification guideline, the variant c. 10488dupG (p.Leu3498Thrfs*41) in KMT2A was classified as pathogenic variant (PVS1+ PS2+ PM1+ PM2+ PP3). Conclusion:The patient’s condition may be attributed to the de novo frameshift variant c. 10488dupG (p.Leu3498Thrfs*41) in KMT2 A gene. This study reported a pathogenic KMT2A variant that had not been reported previously in WDSTS, it expanded the genotypic spectrums of KMT2A variants.

OBJECTIVE: To analyze pathogenic variant of CSNK2A1 gene in a boy with Okur-Chung neurodevelopmental syndrome (OCNS). METHODS: The 8-year-old boy presented with growth retardation, intellectual disability and spells of breath holding. With genomic DNA extracted from peripheral blood samples of the patient and his parents, whole exome sequencing was carried out. Putative pathogenic variants were verified with Sanger sequencing. The nature and impact of detected variants were predicted through bioinformatic analysis. RESULTS: A novel de novo missense variant c.149A>G (p.Tyr50Cys) of the CSNK2A1 gene was identified, which was unreported previously. The variant was predicted to be pathogenic by PolyPhen-2, Mutation Taster and SIFT software. Based on a HomoloGene system, 50 loci within the CK2alpha protein are highly conserved. The change of amino acid (Cys) at position 50 has destroyed the ATP binding loop domain, causing serious damage to its function. As predicted by a Swiss PDB viewer, the variant can significantly alter the spatial structure of CK2alpha, resulting in loss of protein function. CONCLUSION The patient's condition may be attributed to the novel de novo missense variant c.149A>G (p.Tyr50Cys) of the CSNK2A1 gene.

OBJECTIVE: To detect pathogenic variant in a juvenile with severe type Cornelia de Lange syndrome (CdLS). METHODS: A 12-year-old female presented with comprehensive developmental retardation and deformity of lower limbs. Genomic DNA was extracted from peripheral blood sample of the patient. Whole exome sequencing was performed to identify pathogenic variants. Putative variant was verified by Sanger sequencing. The impact of variants was predicted and validated by bioinformatic analysis. RESULTS: A de novo missense variant, c.1507A>G (p. Lys503Glu), was found in the NIPBL gene of the proband. The variant was unreported previously and predicted to be pathogenic by PolyPhen-2, MutationTaster and SIFT. Using HomoloGene system, the 503 loci in the NIPBL protein are highly conserved. The change of amino acid (Glu), locating in 503 locus, was found to cause the Neuromodulin_N superfamily domain destroyed, resulting in severe damage to the function of NIPBL protein. CONCLUSION The de novo missense variant c.1507A>G (p. Lys503Glu) of the NIPBL gene probably underlies the disease in this patient.
Cell Cycle Proteins ; genetics ; Child ; De Lange Syndrome ; genetics ; Developmental Disabilities ; genetics ; Female ; Humans ; Mutation, Missense ; Phenotype

Objective To analyze the biological activity of bioactive peptides in human breast milk and to find the polypeptides so as to investigate the preventive and therapeutic effects of breast milk-derived bioactive peptides on neonatal necrotizing enterocolitis(NEC).Methods Six mothers who gave birth to preterm neonates were enrolled in this study and 5 mL of their breast milk secreted within 2-5 postnatal days were collected for 6 times and blended subsequently.Bioactive peptides from maternal milk of the preterm infants were separated by ultrafiltration and analyzed by using tandem mass spectrometry.Polypeptides possibly with biological function were screened out by using bioinformatics software and the protein function cluster online analysis software was used to predict the polypeptides associated with infection according to the biological function of their precursor proteins.The ATCC25922,an Escherichia coli strain commonly associated with infection in NEC and drug solution (sulbactarr/cefoperazone) were used to conduct the drug susceptibility testing and bactericidal kinetics testing,so as to verify the antibacterial effects of bioactive peptides in the breast milk.Results Four thousand three hundred and eleven peptides contained in breast milk were identified successfully,of which 1 370 were non-differential peptides,and 188 peptides possibly with biological activity and 11 peptides were associated with infection.The peptide compound in the breast milk had antimicrobial activity and bactericidal power against Escherichia coli.Conclusions The active peptide compounds in the breast milk have antimicrobial activity,which play an important role in the prevention of NEC.Finding the true antimicrobial peptides with in vivo and in vitro biological activity by using antimicrobial spectrum test is expected.