OBJECTIVES: The major histocompatibility complex class I chain-related gene A (MICA), a component of the human leukocyte antigen (HLA) gene complex, is involved in the pathogenesis of various diseases including cancers and autoimmune disorders. Rosacea, a chronic inflammatory skin disease with a complex pathogenesis, potentially influenced by genetic and autoimmune factors. This study aims to investigate the relationship among MICA gene polymorphisms, single nucleotide polymorphisms (SNPs), and susceptibility to rosacea, thereby offering new insights into the disease mechanism. METHODS: Peripheral blood DNA samples were collected from 84 patients with rosacea (rosacea group) and 223 healthy volunteers (control group) who visited the Dermatology Outpatient Department of Xiangya Hospital of Central South University between November 2017 and November 2019. MICA genotyping was performed using polymerase chain reaction-sequencing-based typing (PCR-SBT) and the next-generation sequencing (NGS), and the accuracy of the 2 methods was compared. The frequency distributions of MICA alleles between the 2 groups were analyzed. Amino acid clustering and SNP site analyses were conducted to identify haplotype-linked SNPs and to classify MICA polymorphic variants. Distribution differences of these classifications between groups were also examined. RESULTS: Blood tests in rosacea patients showed mildly elevated, with no significant changes in lymphocyte counts. Both PCR-SBT and NGS accurately identified MICA alleles. The most common alleles in the rosacea group were MICA*010:01, MICA*008:04, and MICA*019:01. The frequencies of MICA*002:01 and MICA*027 were significantly lower in the rosacea group compared to controls (6.55% vs 18.16% and 1.19% vs 5.38%, respectively), while and MICA*010:01 were significantly higher (7.74% vs 3.36% and 31.55% vs 18.61%, respectively; all P<0.05). Five short tandem repeat (STR) alleles were identified. Frequencies of MICA-A4 and MICA-A9 were lower in the rosacea group than in the control group (16.07% vs 23.32% and 7.74% vs 17.26%, respectively), whereas MICA-A6 was higher (10.12% vs 4.03%; all P<0.05). Clustering and SNP analysis identified 6 linked SNP sites, classifying MICA variants into Type I (C₃₆+M₁₂₉+K₁₇₃+G₂₀₆+W₂₁₀+S₂₁₅) and Type II (Y₃₆+V₁₂₉+E₁₇₃+S₂₀₆+R₂₁₀+T₂₁₅). Type I MICA variants were significantly associated with rosacea susceptibility. CONCLUSIONS MICA gene polymorphisms are associated with susceptibility to rosacea, and there are 6 linked SNP sites within the MICA gene. Based on this, MICA polymorphic variants are classified into Type I and Type II, with Type I being more closely associated with disease development of rosacea.
Humans ; Polymorphism, Single Nucleotide ; Histocompatibility Antigens Class I/genetics* ; Rosacea/genetics* ; Genetic Predisposition to Disease/genetics* ; Female ; Male ; Adult ; Middle Aged ; Genotype ; Alleles ; Gene Frequency ; Haplotypes ; Case-Control Studies ; Aged ; High-Throughput Nucleotide Sequencing

Objective To investigate the effect of overexpression of LncRNA MEG3 on proliferation,migration and cisplatin sensitivity of hepatoma cells HepG2 and LM3 and explore the underlying and mechanism.Methods The expression of MEG3 in healthy individuals and patients with hepatocellular carcinoma(HCC)was analyzed by online bioinformatics analysis,and Real-time fluorescence quantitative PCR(qRT-PCR)was used to detect MEG3 expression in different HCC cell lines.A MEG3-overexpresing plasmid was transfected in HepG2 and LM3 cells,and the changes in cell proliferation and migration were examined using CCK8 assay and scratch assay.CCK8 assay was used to determine the inhibitory rate of cisplatin on the transfected cells.A reactive oxygen species(ROS)fluorescence probe(DCFH-DA)and malondialdehyde(MDA)kit were used to assess the changes in ROS production and MDA level in the cells.Western blotting was performed to detect the expression levels of ferroptosis-related proteins glutathione peroxidase 4(GPX4)and ferritin heavy chain 1(FTH1).Results The expression of MEG3 was significantly lower in HCC cells than in LO2 cells,which was consistent with the results of bioinformatic analysis(P<0.05).Overexpression of MEG3 in the HCC cell lines significantly suppressed cell proliferation and migration(P<0.05),increased the cell inhibition rate of cisplatin(P<0.05),enhanced cellular ROS production and increased MDA levels in the cells(P<0.05).MEG3 overexpression significantly decreased the expressions of GPX4 and FTH1 in the HCC cell lines.Conclusion The expression of MEG3 is decreased in HCC cells,and its overexpression inhibits proliferation and migration and enhances cisplatin sensitivity of HCC cells by promoting ferroptosis of the cells.

Objective To investigate the effect of overexpression of LncRNA MEG3 on proliferation,migration and cisplatin sensitivity of hepatoma cells HepG2 and LM3 and explore the underlying and mechanism.Methods The expression of MEG3 in healthy individuals and patients with hepatocellular carcinoma(HCC)was analyzed by online bioinformatics analysis,and Real-time fluorescence quantitative PCR(qRT-PCR)was used to detect MEG3 expression in different HCC cell lines.A MEG3-overexpresing plasmid was transfected in HepG2 and LM3 cells,and the changes in cell proliferation and migration were examined using CCK8 assay and scratch assay.CCK8 assay was used to determine the inhibitory rate of cisplatin on the transfected cells.A reactive oxygen species(ROS)fluorescence probe(DCFH-DA)and malondialdehyde(MDA)kit were used to assess the changes in ROS production and MDA level in the cells.Western blotting was performed to detect the expression levels of ferroptosis-related proteins glutathione peroxidase 4(GPX4)and ferritin heavy chain 1(FTH1).Results The expression of MEG3 was significantly lower in HCC cells than in LO2 cells,which was consistent with the results of bioinformatic analysis(P<0.05).Overexpression of MEG3 in the HCC cell lines significantly suppressed cell proliferation and migration(P<0.05),increased the cell inhibition rate of cisplatin(P<0.05),enhanced cellular ROS production and increased MDA levels in the cells(P<0.05).MEG3 overexpression significantly decreased the expressions of GPX4 and FTH1 in the HCC cell lines.Conclusion The expression of MEG3 is decreased in HCC cells,and its overexpression inhibits proliferation and migration and enhances cisplatin sensitivity of HCC cells by promoting ferroptosis of the cells.

OBJECTIVE: To investigate the effects of overexpression of long noncoding RNA (lncRNA) MEG3 on the proliferation and invasion of glioblastoma U251 cells by suppressing the expression of hypoxia inducible factor 1 METHODS: The expression of lncRNA MEG3 and HIF1 RESULTS: The expression of MEG3 was significantly lower and HIF1 CONCLUSIONS MEG3 overexpression inhibits the proliferation and invasion of U251 cells through suppressing the expression of HIF1
Apoptosis ; Cell Line, Tumor ; Cell Movement/genetics* ; Cell Proliferation/genetics* ; Gene Expression Regulation, Neoplastic ; Glioblastoma/genetics* ; Humans ; MicroRNAs ; RNA, Long Noncoding/genetics*

Objective:To analyze the clinical effect of extracorporeal membrane oxygenation (ECMO) in the treatment of burn patients with acute respiratory distress syndrome (ARDS).Methods:The retrospective observational study and the systematic review were applied. From March 2014 to July 2020, five burn patients with ARDS received ECMO treatment in the First Affiliated Hospital of Army Medical University (the Third Military Medical University). All the five patients were male, aged from 40 to 62 years. The average total burn surface area was 58.8% total body surface area (TBSA) and four cases had severe inhalation injury. Patient's ECMO starting time, duration and mode, and whether successfully weaned or the cause of death, and others. were recorded. Furthermore, the changes of oxygenation and infection before, during, and after utilizing ECMO were analyzed. PubMed and Web of Science from the establishment of each database to August 2021 were searched using "Extracorporeal Membrane Oxygenation", "ECMO", "burn", "inhalation" as the search terms and "Title/Abstract" as the field to retrieve the clinical articles that meet the selection criteria . Basic information were extracted from the articles, including sample size, gender, age, total burn area, inhalation injury, the indication of ECMO, the start and lasting time of ECMO, ECMO mode, rate of successful weaning, complications of ECMO, mortality, the combined application of continuous renal replacement therapy (CRRT). Results:Five patients started venovenous ECMO on an average of 10.2 days after injury and lasted an average of 180.4 hours. Three out of 5 patients were weaned successfully with one patient survived. Four patients died of multiple organ dysfunction syndrome (MODS) and septic shock. Compared with those before ECMO treatment, the arterial oxygen partial pressure (PaO 2) and oxygen saturation in arterial blood (SaO 2) of three successfully weaned patients obviously increased during and after ECMO treatment. The fraction of inspired oxygen (FiO 2) decreased below 50% and PaO 2/FiO 2 ratio increased above 200 mmHg (1 mmHg=0.133 kPa) during and after ECMO. Furthermore, lactic acid and respiratory rate decreased, basically. Compared with those before ECMO, PaO 2 and SaO 2 in the other two patients during ECMO, who failed to be weaned, continuously decreased while lactic acid increased. Before and during ECMO, the PaO 2/FiO 2 ratios of unsuccessfullg weaned cases were less than 200 mmHg, and partial pressure of carbon dioxide in arterial blood (PaCO 2) were more than 40 mmHg. Compared with those before ECMO, there were no significant changes in body temperature during and after ECMO, which were less than 38 ℃. Compared with those before ECMO, the leucocyte number (the index without this in unsuccessfully weaned cases was omitted, the same as below) in four patients showed a significant decrease during ECMO, but rose after removal of ECMO. The proportion of neutrophils in three patients were slightly higher during ECMO than before ECMO, and did not change significantly after removal of ECMO. Compared with those before ECMO, platelet counts in three patients were significantly reduced during ECMO, and all five patients during ECMO were below normal levels. Compared with those before ECMO, the procalcitonin levels in four deaths were significantly increased during ECMO. Catheter culture of microorganism was performed in three successfully weaned patients, all of which were negative. A total of 13 literature were included, ranging from 1990 to 2019. The sample size in 6 studies was less than 10, and the sample size in 4 studies was between 10 and 20, and only 2 literatures had a sample size larger than 50. ECMO was applied in 295 burn patients with overall mortality of 48.8% (144/295), including 157 adults and 138 children. The most common indication of ECMO was severe ARDS. Among 157 adult burn patients (95 males and 65 females), 36 cases had inhalation injury. The average burn area was 27%-37%TBSA in 5 reported studies and was more than 50%TBSA in 2 reported studies. The most common mode was venovenous ECMO. ECMO treatment began 26.5 hours to 7.4 days after injury and lasted from 90 hours to 18 days, and the rate of successful weaning ranged from 50% to 100%. The most common complications were bleeding and infection. The mortality was 52.9% (83/157). MODS and sepsis were the leading causes of death. Among 138 pediatric burn patients (77 boys and 61 girls), 29 patients had inhalation injury. The average burn area was 17%-50.2%TBSA in 3 studies. ECMO treatment lasted from 165.2 hours to 324.4 hours. Bleeding was the most common complication. The mortality was 44.2% (61/138). Conclusions:ECMO is an effective strategy for the salvage treatment of burns complicated with ARDS. Furthermore, the prevention and treatment of bleeding, infection and organ dysfunction should be emphasized during the use of ECMO. More importantly, evidence-based guidelines for burns are urgently needed to further improve the clinical effect of ECMO.

2019 novel coronavirus (2019-nCoV) is one of the beta coronaviruses and was identified as the pathogen of the severe "coronavirus disease 2019 (COVID-19)" in 2019. China has formally included the 2019-nCoV in the statutory notification and control system for infectious diseases according to the Law of the People's Republic of China on the Prevention and Treatment of Infectious Diseases. Currently, the national defending actions on the 2019-nCoV in China is in a critical period. Burn Department is also confronted with risk of infection by the 2019-nCoV. According to the guidelines on the diagnosis and treatment of COVID-19 (6^th trial edition), the latest relative literature at home and abroad, the features of the COVID-19, recommendations for the COVID-19 prevention and control issued by the National Health Commission of China, and management experience of diagnosis and treatment in the related disciplines, we put forward recommendations for the medical practices of burn treatment during the outbreak of the COVID-19 in outpatient and emergency treatment, inpatient treatment, operation and ward management, etc. We hope these recommendations could benefit the professionals of the same occupation as us and related hospital managers, improve the treatment of burn during the outbreak of the COVID-19, and avoid or reduce the risk of infection of medical staff .

Objective:To explore the death risk factors of extremely severe burn patients, establish a death risk nomogram predicting model, and investigate the predictive value for death risk of extremely severe burn patients.Methods:The medical records of 231 extremely severe burn patients (190 males and 41 females, aged 18-60 years) who were admitted to the Institute of Burn Research of the First Affiliated Hospital of Army Medical University from January 2010 to October 2018 and met the inclusion criteria were analyzed retrospectively. According to the final outcome, the patients were divided into survival group of 173 patients and death group of 58 patients. The sex, age, severity of inhalation injury, total burn area, full-thickness burn area, burn index, rehydration coefficient and urine volume coefficient of the first and second 24 h after injury, the first base excess, shock index, and hematocrit (HCT) after admission, whether to have pre-hospital fluid infusion, use of ventilator, and use of continuous renal replacement therapy (CRRT), and abbreviated burn severity index (ABSI ) and Baux score on admission of patients in the two groups were recorded or calculated. According to the use of ventilator, the patients were divided into with ventilator group of 131 patients and without ventilator group of 100 patients, and the death, total burn surface area, burn index, incidence and severity of inhalation injury were recorded. According to the use of CRRT, the patients were divided into with CRRT group of 59 patients and without CRRT group of 172 patients, and the death, total burn surface area, and burn index were recorded. Data were statistically analyzed with t test, chi-square test, and Mann-Whitney U test to screen the death related factors of patients. The indexes with statistically significant differences between survival group and death group were included in the multivariate logistic regression analysis to screen the independent death risk factors of patients, and the death risk nomogram predicting model was constructed based on the results.The Bootstrap method was used to validate the death risk nomogram predicting model internally. The predictive value of the nomogram model for predicting death risk of patients was detected by drawing calibration graph and calculating concordance index, and the death risk scores of 231 patients were acquired according to the death risk nomogram model. The receiver′s operating characteristic (ROC) curve was drawn, and the optimal threshold and the sensitivity and specificity of optimal threshold in the ROC curve and the area under the curve were calculated. Results:(1) There were statistically significant differences in burn index, ABSI on admission, severity of inhalation injury, total burn area, full-thickness burn area, rehydration coefficient at the first 24 h after injury, use of ventilator, use of CRRT, and Baux score on admission of patients between the two groups ( Z=-7.696, -7.031, χ2=18.304, 63.065, 23.300, 13.073, 34.240, 59.586, t=-7.536, P<0.01). (2) There were statistically significant differences in death, incidence and severity of inhalation injury, total burn area, and burn index of patients between with ventilator group and without ventilator group ( χ2=34.240, 17.394, 25.479, Z=-6.557, -7.049, P<0.01). (3) There were statistically significant differences in death, total burn area, and burn index of patients between with CRRT group and without CRRT group ( χ2=62.982, Z= -47.421, -6.678, P<0.01). (4) The use of ventilator, use of CRRT, and burn index were independent risk factors for the death of extremely severe burn patients (odds ratio=3.277, 5.587, 1.067, 95% confidence interval=1.073-10.008, 2.384-13.093, 1.038-1.096, P<0.05 or P<0.01). (5) The initial concordance index of nomogram predicting model was 0.90 and the corrected concordance index was 0.89. The concordance indexes before and after correction were higher and similar, which showed that the nomogram had good concordance and predictive effect. The optimum threshold of ROC curve was 0.23, the sensitivity and specificity of optimum threshold were 86.0% and 80.0%, respectively, and the area under ROC curve was 0.90 (95% confidence interval=0.86-0.94, P<0.01). Conclusions:Severe burns and damage and/or failure of organ are the main death causes of extremely severe burn patients. The death risk nomogram predicting model established on the basis of use of ventilator, use of CRRT, and burn index have good predictive ability for death of extremely severe burn patients.

OBJECTIVETo analyze a fetus with abnormal cardiac ultrasound by using various techniques and explore its genotype-phenotype correlation.

METHODSLymphocytes derived from umbilical cord blood sample were subjected to G-banding analysis. Short tandem repeats quantitative fluorescence PCR (STR-QF-PCR) was used for analysis of fetal DNA as an auxiliary test. Low-coverage whole genome sequencing (WGS) was used to detect chromosomal deletion/duplication which exceeded 100 kb in size.

RESULTSThe karyotype of the fetus was 47,XN,+mar. As detected by STR-QF-PCR, the copy number of GATA178F11 locus on chromosome 18 was 4, and the duplicated fragment was derived from the mother. WGS suggested that the fetus to be 46,XN,dup(18p11.21p11.32).seq [GRCh37/hg19](10 001-15 378 887)× 4, with the duplicated fragment spanning approximately 15.38 Mb.

CONCLUSIONThe cardiac malformation of the fetus may be attributed to the partial duplication of chromosome 18p. Combined cytogenetic and molecular methods can facilitate prenatal detection of genetic abnormalities.

Fluid therapy is a crucial treatment for patients with extensive burn, which affects patients′prognosis directly. Accurate urine output measurement plays an irreplaceable role in guiding fluid resuscitation in clinic. As one of the best indexes in traditional burn resuscitation, urine output comprehensively reflects systemic circulation. However, it doesn′t fully reflect all the specific chapters of microcirculation and systemic circulation and deficient cellular oxygen metabolism exactly. We need to use urine output combined with other shock parameters to ensure adequate fluid replacement. Currently, the most common way of urine output monitoring is manual measurement. The article reviews the application of urine output monitoring in guiding fluid resuscitation of burn shock.

Objective To investigate the low hemoglobin density (low haemoglobin density,LHD) and red blood cell volume distribution width (red blood cell volume distribution width,RDW) in iron deficiency anemia (iron-deficiency anemia,IDA)in children with the value of diagnosis and treatment.Methods From February 2016 to May 2017,in the Second People's Hospital of Longgang District in Shenzhen City,86 cases of children with iron deficiency anemia for IDA group,and 120 cases of healthy children (as the control group) at the same time were confirmed.Blood routine of children with IDA were detected before and after treatment hemoglobin concentration and the results were analyzed statistically.Results 120 cases of healthy children in the peripheral blood LHD value was 2.74 ％ ± 0.90 ％ and the boy was 3.07 ％ ± 0.81％,higher than that of 2.26 ％ ± 0.69 ％ of the girls.Between them,there was statistically significant difference (t=3.815,P＜0.05).The value of RDW was 12.37 ％ ± 2.84 ％,12.09 ％ ± 2.80 ％ for the boys and 12.56 ％ ± 2.87 ％ for the girls,there was no statistically significant difference between the them (t=0.517,P＞0.517).Before treatment,86 cases of children with IDA LHD and RDW values in peripheral blood were 30.67 ％ ± 20.12 ％ and 16.62 ％ ± 3.27 ％,significantly higher than the control group,the difference was statistically significant between (t=4.025 ～ 4.025,P＜0.05 ～ 0.01),and there was no statistically significant difference between male and female children (t =0.761 ～ 0.917,P＞ 0.05).After treatment L HD and RDW values were 10.65 ％ ± 8.92 ％ and 14.02 ％ ± 2.93 ％,significantlylower than before the treatment,between them was statistically significant difference (t=2.912～9.675,P＜0.05).Conclusion Children with iron deficiency anemia treatment before the LHD and RDW values significantly elevated in the blood,significantly decreased after treatment,the LHD and RDW values for diagnosis and treatment of children with iron deficiency anemia dynamic monitoring has certain application value,worthy of popularization and application.