Objective:To investigate the clinical value of targeted sequencing panel in the detection of genetic variation in neonates in neonatal intensive care unit (NICU).Methods:All neonates (≤28 d of age) admitted in the NICU (case group) and 200 full-term healthy neonates born with no obvious phenotypic abnormalities of Huzhou Maternity and Child Health Care Hospital were enrolled in this prospective study from November 2022 to January 2023. Based on a list of preventable and treatable rare diseases as well as newly screened diseases in China, a targeted sequencing panel suitable for Chinese newborns was designed to target the pathogenic genes and mutation sites associated with 601 genes and 542 diseases. Dried blood spot specimens were prepared and analyzed by the targeted sequencing panel. Pathogenic sites detected by the panel sequencing were verified using Sanger sequencing. The genetic testing results were analyzed according to the clinical features of the neonates. According to the number of primary clinical diagnosis index (including premature infants, neonatal hyperbilirubinemia, hemorrhagic diseases, neonatal infections, ventricular septal defect/patent ductus arteriosus, and others), these patients were divided into four groups with 1, 2, 3, and ≥4 diagnosis index, respectively. Chi-square test and linear correlation Chi-square test were used for statistical analysis. Results:There were 173 patients in the case group and 30.6% (53/173) of them carried pathogenic variants, including 52 positive for pathogenic genes and one with chromosome copy number variant. The positive rate of pathogenic genes was significantly higher in the case group than in the control group [30.1% (52/173) vs. 15.0% (30/200), χ 2=12.26, P<0.001]. Fourteen pathogenic genes were detected in the case group, including FLG, UGT1A1, G6PD, MYH7, AR, ABCC2, ACADS, CYP21A2, GJB2, MEFV, PAH, PKHD1, SCN4A, and HBA. In the case group, the detection rate of pathogenic variants in jaundiced neonates was higher than that in non-jaundiced neonates [35.2% (44/125) vs. 18.8% (9/48), χ 2=4.42, P=0.036]. However, there were no statistically significant differences in the detection rates of pathogenic variants between male and female infants, infants born to mothers of advanced maternal age or not, infants born to mothers with or without gestational diabetes mellitus, premature and term infants, or infants with or without hemorrhagic disorders, neonatal infections, or ventricular septal defects/patent ductus arteriosus in the case group (all P>0.05). The detection rate of pathogenic variants showed a linear increase in infants with 1, 2, 3, and ≥4 diagnosis index [21.1% (8/38), 25.4% (15/59), 38.2% (13/34), and 40.5% (17/42); linear correlation χ 2=4.84, P=0.028]. In the case group, seven genes with a high detection rate of genetic variation (including positive pathogenic genes and carriers) were UGT1A1 [had the highest detection rate, 24.9% (43/173)], GJB2, FLG, DUOX2, ABCA4, G6PD, and MUT. Seven loci with higher mutation frequency were c.211G>A(p.Gly71Arg), c.1091C>T(p.Pro364Leu), c.-41_-40dupTA, and c.686C>A(p.Pro229Gln) in the UGT1A1 gene, c.109G>A(p.Val37Ile) in the GJB2 gene, and c.12064A>T(p.Lys4022Ter) and c.3321del(p.Gly1109GlufsTer13) in the FLG gene. Conclusion:This panel sequencing can provide effective genetic testing for neonates in NICU, especially in children with complex clinical diagnosis.

Objective:To analyze the risk factors of bronchopulmonary dysplasia(BPD)in very preterm infants(VPI), and to provide scientific basis for the prevention and treatment of BPD in VPI.Methods:A prospective multicenter study was designed to collect the clinical data of VPI in department of neonatology of 28 hospitals in 7 regions from September 2019 to December 2020.According to the continuous oxygen dependence at 28 days after birth, VPI were divided into non BPD group and BPD group, and the risk factors of BPD in VPI were analyzed.Results:A total of 2 514 cases of VPI including 1 364 cases without BPD and 1 150 cases with BPD were enrolled.The incidence of BPD was 45.7%.The smaller the gestational age and weight, the higher the incidence of BPD( P<0.001). Compared with non BPD group, the average birth age, weight and cesarean section rate in BPD group were lower, and the incidence of male infants, small for gestational age and 5-minute apgar score≤7 were higher( P<0.01). In BPD group, the incidences of neonatal respiratory distress syndrome(NRDS), hemodynamically significant patent ductus arteriosus, retinopathy of prematurity, feeding intolerance, extrauterine growth restriction, grade Ⅲ~Ⅳ intracranial hemorrhage, anemia, early-onset and late-onset sepsis, nosocomial infection, parenteral nutrition-associated cholestasis were higher( P<0.05), the use of pulmonary surfactant(PS), postnatal hormone exposure, anemia and blood transfusion were also higher, and the time of invasive and non-invasive mechanical ventilation, oxygen use and total hospital stay were longer( P<0.001). The time of starting enteral nutrition, cumulative fasting days, days of reaching total enteral nutrition, days of continuous parenteral nutrition, days of reaching 110 kcal/(kg·d) total calorie, days of reaching 110 kcal/(kg·d) oral calorie were longer and the breastfeeding rate was lower in BPD group than those in non BPD group( P<0.001). The cumulative doses of amino acid and fat emulsion during the first week of hospitalization were higher in BPD group( P<0.001). Multivariate Logistic regression analysis showed that NRDS, invasive mechanical ventilation, age of reaching total enteral nutrition, anemia and blood transfusion were the independent risk factors for BPD in VPI, and older gestational age was the protective factor for BPD. Conclusion:Strengthening perinatal management, avoiding premature delivery and severe NRDS, shortening the time of invasive mechanical ventilation, paying attention to enteral nutrition management, reaching whole intestinal feeding as soon as possible, and strictly mastering the indications of blood transfusion are very important to reduce the incidence of BPD in VPI.

Objective:To explore the effect of acupoint pressure pill massage combined with salt pack hot compress and free body position alone for labor analgesia.Methods:One hundred and eighty pregnant women hospitalized in the Sixth People′s Hospital of Huizhou from January 2019 to December 2020 were selected and randomly divided into the control group and the observation group, each group with 90 patients. The control group received free body position to relieve labor pain. On the basis of the control group, the observation group used acupoint pressure pill massage combined with salt pack hot compress to relieve labor pain. The effects of the two methods on patients′ pain and the visual analogue scale (VAS) during different stages of labor and the outcome of the two groups were compared.Results:The rate of labor analgesia efficacy in the observation group was better than that in the control group : 98.89%(89/90) vs. 92.22%(86/90), the difference was statistically significant ( χ2 = 4.71, P<0.05). The scores of VAS in the observation group during the first, second and third stages of labor were lower than those in the control group ( P<0.01). The time of the first, second and third stages of labor and the total time of labor in the observation group were all lower than those in the control group ( P<0.01). At the end of the first stage of labor, the levels of β-endorphin and norepinephrine in the observation group were higher than those in the control group: (173.98 ± 32.87) ng/L vs. (139.43 ± 38.94) ng/L, (80.43 ± 10.98) nmol/L vs. (72.02 ± 11.21) nmol/L; the levels of dopamine were lower than those in the control group: (1.04 ± 0.23) mg/L vs. (1.23 ± 0.25) mg/L, the differences were statistically significant ( P<0.01). The rate of natural delivery in the observation group was higher than that in the control group: 95.56%(86/90) vs. 86.67% (78/90), χ2 = 4.39, P<0.05. Conclusions:Acupoint pressure pill massage combined with salt pack hot compresscan effectively alleviate the pain of child birth, reduce their pain, but also shorten their labor process, promote them to deliver rapidly.

Objective:To evaluate the effects of repetitive transcranial magnetic stimulation (rTMS) on sleep quality in patients with post-stroke sleep disorder (PSSD).Methods:The clinical randomized controlled trials involving PSSD patients who received rTMS were retrieved from nine medical databases. After excluding duplicated references, screening for independent references and risk evaluation, the remaining references were input into RevMan5.4 software for meta-analysis.Results:Twelve eligible literatures were included in the final analysis. Meta-analysis results revealed that after rTMS intervention, there were significant differences in the following terms between the treatment and control groups (all P < 0.05): Pittsburgh sleep quality index score [MD = -2.60, 95% CI (-3.03, -2.17), P < 0.000 01]; sleep latency [MD = -9.69, 95% CI (- 16.87, - 2.50), P < 0.01], sleep efficiency [MD = 8.90, 95% CI (5.41, 12.39), P < 0.01], number of awakenings [MD = -1.15, 95% CI (- 2.26, - 0.04), P = 0.04], awakening duration [MD = -10.95, 95% CI (- 13.30, -8.61), P < 0.01], and rapid eye movement [MD = 4.54, 95% CI (2.24, 6.85), P < 0.01] in polysomnography; brain-derived neurotrophic factor score [MD = 5.29, 95% CI (2.47, 8.11), P = 0.0002]; clinical curative rate [ OR = 4.46, 95% CI (2.75, 7.23), P < 0.000 01]. Conclusion:rTMS can improve the sleep quality in patients with PSSD, which is worthy of clinical promotion.

Over 17 and 160 types of chemical modifications have been identified in DNA and RNA, respectively. The interest in understanding the various biological functions of DNA and RNA modifications has lead to the cutting-edged fields of epigenomics and epitranscriptomics. Developing chemical and biological tools to detect specific modifications in the genome or transcriptome has greatly facilitated their study. Here, we review the recent technological advances in this rapidly evolving field. We focus on high-throughput detection methods and biological findings for these modifications, and discuss questions to be addressed as well. We also summarize third-generation sequencing methods, which enable long-read and single-molecule sequencing of DNA and RNA modification.
Animals ; DNA/metabolism* ; DNA Methylation ; Epigenesis, Genetic ; Epigenomics ; Humans ; RNA/metabolism* ; Transcriptome

Endoplasmic reticulum (ER) stress is mediated by disturbance of Ca²⁺ homeostasis. The store-operated calcium (SOC) channel is the primary Ca²⁺ channel in non-excitable cells, but its participation in agent-induced ER stress is not clear. In this study, the effects of tunicamycin on Ca²⁺ influx in human umbilical vein endothelial cells (HUVECs) were observed with the fluorescent probe Fluo-4 AM. The effect of tunicamycin on the expression of the unfolded protein response (UPR)-related proteins BiP and CHOP was assayed by western blotting with or without inhibition of Orai1. Tunicamycin induced endothelial dysfunction by activating ER stress. Orai1 expression and the influx of extracellular Ca²⁺ in HUVECs were both upregulated during ER stress. The SOC channel inhibitor SKF96365 reversed tunicamycin-induced endothelial cell dysfunction by inhibiting ER stress. Regulation of tunicamycin-induced ER stress by Orai1 indicates that modification of Orai1 activity may have therapeutic value for conditions with ER stress-induced endothelial dysfunction.
Blotting, Western ; Calcium ; Endoplasmic Reticulum ; Endoplasmic Reticulum Stress ; Endothelial Cells ; Homeostasis ; Human Umbilical Vein Endothelial Cells ; Tunicamycin ; Unfolded Protein Response

Objective To evaluate the changes of left ventricular hemodynamics and systolic function in patients with apical aneurysm after percutaneous ventricular restoration ( PVR) by echocardiography . Methods Fifty patients with apical aneurysm were divided into PVR group ( 25 cases) and conservative treatment group ( control group ,25 cases ) . Two-dimensional transthoracic echocardiography ( 2D-TTE ) combined with real-time three-dimensional transesophageal echocardiography( RT-3DTEE) were applied for all the subjects in PVR group on preoperative ,one week after operaction ,three months after operaction and in control group on initial stage of prevent ventricular remodeling therapy ,one week after therapy ,three months after therapy to obtain left ventricular end-diastolic diameter( LVEDD) ,left ventricular end-systolic diameter( LVSDD) ,left ventricular end-diastolic volume( EDV ) ,end-systolic volume( ESV ) ,left ventricular ejection fraction( LVEF) ,left ventricular fractional shortening ( LVFS ) ,body surface area ( BSA ) ,stroke volume( SV) ,stroke volume index ( SVI) ,cardiac output ( CO ) ,cardiac output index ( CI) . Results There were significant differences in all parameters( P < 0 .05) especially in LVEF and SVI( P < 0 .01) between PVR group and control group in the following three months after operaction ,while there was no significant difference of the following one week after operaction( P > 0 .05) .Compared with preoperative ,there was no difference in all parameters in the following one week after operaction ( P > 0 .05) ,there was significant increase in SV and significant reduce in LVEDD and EDV ( P < 0 .01) between preoperative and in the following three months after operaction ,while there was no significant difference between preoperative and in the following one week after operaction ( P > 0 .05 ) .For the control group there was no significant difference between initial stage of prevevt ventricular remodeling therapy and in the following one week or three months after operaction .Conclusions PVR has a definite effect on left ventricular hemodynamics and systolic function in patients with apical aneurysm in the short term ,while 2D-TTE and RT-3DTEE provides a reliable basis for clinical to evaluate the effect of the PVR .

Objective: To construct the evaluation index of follow-up assessments on TCM (traditional Chinese medicine) health management of female. Methods: The evaluation indicators and score criteria were extracted for the efficacy evaluation of diseases and syndromes related to irregular menstruation in The criteria of diagnosis and therapeutic effect of diseases and syndromes in Traditional Chinese Medicine and Guidelines of clinical research of new drugs of Traditional Chinese Medicine; The health behaviors related to the onset of irregular menstruation diseases, such as diet, emotion, exercise, etc. were collected to build index of health behavior of irregular menstruation. Results: A comprehensive index system of follow-up assessments on TCM health management of female composed of disease curative effect, syndrome curative effect and health behavior score was constructed. Conclusion: The evaluation index system helps to dynamically track the effectiveness of interventions and management, and helps users to adjust the intervention plan and avoid the unhealthy behaviors.

Objective To discuss on the relationship among innovation,scientific nature and ethics in medical articles,in order to improve the academic quality of manuscripts.Methods Take Chinese Journal of Radiological Medicine and Protection as an example,innovation was emphasized in the field of radiation diagnosis and treatment,while the cases lack of innovation were pointed.However,the lessons from many papers showed that those papers only with innovation would be rejected because of defect in scientific nature and ethics.Results Innovation is the soul of the paper,and the scientific and ethical nature is the foundation and premise of innovation.Conclusions While the innovation is emphasized,the scientific nature and ethics of the thesis should be not ignored.These three aspects are integral.

Objective:To investigate the effects of Jianpijiedutang combined with Kangfuxin Liquid in the treatment of recurrent oral ulcer(ROU).Methods:80 patients with ROU were divided into 2 groups(n=40).The patients in control group were treated with Kangfuxin Liquid local spray,those in the test group were treated with Jianpijiedutang combined with Kangfuxin Liquid spray.The patients were followed up for 24 weeks.The effects were evaluated according to the trial standard of Chinese Stomatological Association.Results:The interval of ROU increased and ulcer number decreased in the 2 groups during the observation period,the test group showed more effective outcome than the control group(P<0.05).In the treatment group ROU interval increased more than in the control group(P<0.01),and ROU ulcer number decreased more(P<0.01).Conclusion:The Jianpijiedutang combined with Kangfuxin Liquid spray is more effective than the latter used only.