During pregnancy, there will be significant changes in endogenous hormones level, and pituitary tissues are susceptible to these changes. For women with pituitary tumor, changes in pituitary hormones during pregnancy will not only increase the risk of tumor growth, but also affect the health status of them and their fetuses. Different treatments or interventions during pregnancy can also affect the natural course of pregnancy in patients with pituitary tumors. The specificity of pregnancy status makes the diagnosis of pituitary tumors during pregnancy challenging, which leads to an increase in adverse pregnancy outcomes secondary to abnormal pituitary hormone levels such as prolactin, growth hormone, cortisol, etc.. Therefore, the diagnosis, treatments and follow-up of pituitary tumors during pregnancy are very important. This article focuses on analyzing the pregnancy characteristics and precautions of patients with various types of pituitary tumors, in order to provide guidance for the individualized management of such patients during pregnancy.
Objective:To explore the genetic etiology of fetuses with short femur length (FL) at the genome-wide level by chromosome microarray analysis (CMA) technique.Methods:Seventy-three pregnant women and their fetuses who had short FL by prenatal ultrasonography and underwent invasive prenatal diagnosis at Guangzhou Women and Children′s Medical Center from January 2019 to December 2020 were enrolled in the study. According to whether they were combined with other obvious structural developmental abnormalities, they were divided into isolated group (n=56) and complex group (n=17). Chromosomal karyotyping and CMA were performed, and results were analyzed by applying CHAS software and related bioinformatics methods. The procedures followed in this study were in accordance with the ethical standards set by the Human Experimentation Committee of Guangzhou Women and Children′s Medical Center, and were approved by this ethical committee (Approval No. [2019] 11600). Written informed consents were obtained form all pregnant women.Results:① Of these 56 fetuses in isolated group, 6 were combined with ultrasound soft index abnormalities; of these 17 fetuses in complex group, 6 were combined with neurological malformations, 6 with cardiovascular malformations, and 6 with malformations of other skeletal systems. ②The CMA results of 73 fetuses showed that 10 cases contained pathogenic/probably pathogenic copy number variants (CNV), with a total pathogenicity detection rate of 13.7% (10/73), the variants of uncertain significance (VUS) detection rate of 2.7% (2/73), and a benign CNV detection rate of 83.6% (61/73). ③Of the 44 short FL fetuses that underwent both chromosomal karyotyping and CMA testing, 34 were in isolated group and 10 were in complex group. Comparison of the rates of chromosomal karyotype abnormality (10.0%) and abnormal detection by CMA technique (30.0%) in the complex group showed no statistically significant difference (χ2=2.08, P=0.149). ④None of the 73 fetuses were found to contain the known pathogenic locus of FGFR3 gene. Of the 63 CMA-negative fetuses, 7 fetuses were highly suspected of having long-bone dysplasia due to prenatal ultrasonography (long bones of the limbs <3% of the children of the same gestational age), and further whole exome sequencing (WES) testing showed that the COL1A1 mutation (c.2519C>T; p. P840L) was detected in 1 fetus as VUS. ⑤Follow-up showed that 31 (42.5%) fetuses were delivered at term, 15 (48.4%) live births showed a growth rate of long below the 10th percentile of the same-age child in infancy, and other developmental assessments did not show any obvious abnormalities.Conclusions:CMA has a certain application value in prenatal diagnosis of fetuses with short FL and has a higher detection rate than chromosomal karyotyping. Therefore, it is suggested that CMA should be used as a first-line technique in the prenatal diagnosis of fetuses with short FL on prenatal ultrasound examination, especially when combined with other structural abnormalities.
Objective:This study aims to apply gene-based machine learning to screen and identify key genes (hub genes) related to bronchopulmonary dysplasia (BPD) in preterm infants, providing theoretical insights into the pathogenesis of BPD.Methods:We obtained gene microarray dataset GSE32472, including 68 BPD preterm infants (research group) and 43 non-BPD preterm infants born during the same period (control group) from the Gene Expression Omnibus (GEO) database. Using Weighted Gene Co-expression Network Analysis (WGCNA), we screened the hub gene set from color modules. Through least absolute shrinkage and selection operator(LASSO) regression analysis based on penalty values (λ values), we calculated coefficients for each gene and selected candidate hub genes for BPD in preterm infants. Random forest analysis results were used to screen the top 10 hub genes in the color module of BPD in preterm infants. After taking the intersection of the genes selected through LASSO regression and random forest analysis, we identified 6 hub genes for BPD.Results:① Through the " WGCNA" package in R software (version 4.1.3), we achieved a scale-free topology fit index slightly above 0.9, setting the soft-thresholding power to 18 for scale independence. This allowed us to identify and cluster hub gene modules of BPD, yielding 11 characteristic hub gene color modules. Further analysis revealed that genes in the yellow module showed significant correlation with the incidence of BPD in preterm infants. ②Using the " glmnet" package in R software, we performed LASSO regression analysis on 189 genes in the yellow module, achieving L1 regularization parameter estimation and variable selection. Most of the model parameter regression coefficients tended to zero, effectively avoiding overfitting of the training data. We employed ten-fold cross-validation to validate the model of the dataset of candidate hub genes for BPD. The prediction error of the model was minimized when it included 41 candidate hub genes, corresponding to a λ value of 0.0114. ③With the " randomForest" package in R software, our random forest analysis of the 189 genes in the yellow module showed that ten candidate genes (SPON1, TMEM204, CD28, ICOS, LOC100996619, NOL9, GCSAM, UBASH3A, CCNI2, AQP3) had an importance score of over 1.0 in the analysis of candidate hub genes for BPD, significantly surpassing other candidate genes. ④In the GSE32472 gene microarray dataset, six hub genes for BPD (SPON1, TMEM204, CD28, ICOS, LOC100996619, NOL9) were identified in the yellow module related to BPD, following LASSO regression analysis and random forest analysis.Conclusions:By constructing a co-expression hub gene regulatory network for BPD and selecting six BPD-related hub genes based on machine learning algorithms, we have laid a theoretical foundation for exploring the pathogenesis of BPD and potential treatment targets.
Lymphatic vascular infiltration (LVSI) is one of the prognostic factors for patients with endometrial cancer(EC), but LVSI mainly depends on pathological analysis of surgical specimens, which has certain limitations. In recent years, preliminary progress has been made in the prediction of LVSI, such as molecular level detection, including DNA, RNA and related protein detection, which can help to predict LVSI status. Predictive models developed from clinical data can also aid in clinical judgment LVSI in patients with EC. The author intends to review the latest research progresses on molecular prediction, immunohistochemistry prediction, and related risk model prediction of LVSI status in patients with EC, with the aim of providing reference for clinical diagnosis and treatment planning of EC.
In the 21st century, development of high-throughput sequencing technologies and molecular biology research techniques and methods for non-coding RNA (ncRNA) have further promoted the discovery of ncRNA. Epigenetically related ncRNA include microRNAs (miRNA), long non-coding RNA (lncRNA) and circular RNA (circRNA), etc., however, these ncRNA are not act directly as carriers of genetic information, but involved in life activities of granulosa cells (GC)and oocytes by regulating expression of genes such as BMP15 and GDF9. ncRNA plays an important regulatory role in GC proliferation and apoptosis, oocyte development and maturation, and may play a role in regulating disease progression in pathogenesis of polycystic ovary syndrome (PCOS) related diseases. The authors intend to present the latest research progresses on ncRNA in follicular development and maturation, aiming to explore the role of ncRNA in follicular development and its mechanism, which may provide new ideas for prevention, early diagnosis and treatment of POCS and other related reproductive diseases. The authors intend to present the latest research progress on the role of ncRNA in follicular development and maturation, and its mechanism, aiming at providing new ideas for prevention, early diagnosis and treatment of POCS and other related reproductive system diseases.
Objective:To evaluate the radiation dose levels of interventional diagnosis and treatment on pediatric congenital heart disease (CHD) under 3 kinds of radiation protection measures, and to explore the correlation between body weight and radiation dose.Methods:A total of 354 children (the age ranged from 6 months to 10 years old) with CHD who underwent cardiac catheterization intervention from January 2015 to June 2021 in Gansu Province Maternity and Child-care Hospital were selected for the study. The 4 types of CHD of these children were patent ductus arteriosus (PDA), ventricular septal defect (VSD), atrial septal defect (ASD) and pulmonary stenosis (PS). According to different radiation protection measures, they were categorized into measure 1 group (n=112, low-dose protection without filter grids), measure 2 group (n=85, conventional protection without filter grids), and measure 3 group (n=157, conventional protection with filter grids). Body weight and body surface area (BSA) of children with four types of CHD in three groups, and three indicators of radiation exposure assessment in interventional practice, including fluoroscopy time (FT), dose-area product (DAP), and air-specific kinetic energy (AK), were overall and pairwise compared respectively by Kruskal-Wallis H test and Mann-Whitney U test. A linear regression model was used to analyze the correlation between DAP and children′s weight. This study was reviewed and approved by the Ethics Committee of Gansu Province Maternity and Child-care Hospital with Approval No. (2021) GSFY Lun Audit [66]. All guardians gave informed consent for the treatment of the children and signed the informed consent forms.Results:① Among the 354 children with CHD, 140, 83, 77 and 54 children had PDA, VSD, ASD and PS, respectively. ② The AK and DAP/kg of children with PDA, VSD, ASD, and PS in measure 3 group were higher than those of children with the same type of CHD in measure 1 group, respectively, and the FT of children with VSD, ASD and PS in measure 3 group were longer than those of children with the same type of CHD in measure 1 group, respectively, and the differences were all statistically significant (P<0.05). In contrast, the FT of children with PDA in measure 3 group was 4.8 min (4.1 min, 8.0 min), which was shorter than that of 5.5 min (3.9 min, 9.9 min) of children with PDA in measure 1 group, and the difference was statistically significant (Z=—3.26, P=0.001). ③ AK and DAP/kg of children with PDA and VSD, as well as AK of children with ASD and PS in measure 3 group were higher than those of children with the same type of CHD in measure 2 group, respectively, and the differences were all statistically significant (P<0.05). ④ The AK and DAP/kg of children with PDA and VSD in measure 2 group were higher than those of children with the same type of CHD in measure 1 group, respectively, and the differences were all statistically significant (P<0.05). ⑤ The results of pairwise comparison of four types of children with CHD in measure 1 group showed that the AK and DAP/kg of children decreased with VSD, PS, ASD and PDA in turn. ⑥ There were linear positive correlation between body weight and DAP in all 3 groups of children with 4 types of CHD during interventional surgery.Conclusions:Low-dose radiation protection measures (measure 1 group) can effectively reduce the radiation dose during the interventional diagnosis and treatment of pediatric CHD.
Epithelial ovarian cancer (EOC) has the highest mortality rate among gynecological tumors. EOC has multiple pathological types, which can be divided into type Ⅰ and Ⅱ based on the pathogenesis and " dualistic model". Due to their different pathogeneses, precursors and molecular genetics, type Ⅰ and Ⅱ EOC have a different chemotherapy protocol and prognosis. Due to differences in pathogenesis, precursor lesions, and genetic alterations between type Ⅰ and type Ⅱ EOC, there are significant differences in tumor chemotherapy sensitivity and patients prognosis, resulting in completely different clinical outcomes. The accurate classification of EOC and the further exploration of the related molecular pathways by the " dualistic model" can help clinicians adopt more effective prevention, diagnosis and treatment, thus significantly improving the quality of life of EOC patients. The author aims to elaborate on the proposal of the " dualistic model" for EOC, its clinical characteristics, molecular genetic features, and the latest research status of early diagnosis, prevention, and treatment strategies based on the " dualistic model" for EOC patients.
Objective:To explore the improvement effect of budesonide suspension for aerosol inhalation combined with dyclonine mucilage smearing with tracheal catheter on pharyngeal discomfort in patients undergoing gynecological laparoscopic surgery and tracheal intubation under general anesthesia.Methods:A total of 200 patients undergoing tracheal intubation under general anesthesia during gynecological laparoscopy in the People′s Hospital of Luzhai were enrolled as the research objects from January 2021 to January 2023. According to random number table method, they were divided into observation group (n=100, budesonide suspension for aerosol inhalation combined with dyclonine mucilage smearing with tracheal catheter) and control group (n=100, dyclonine mucilage smearing with tracheal catheter). By prospective research methods, the operation time, tracheal intubation time and occurrence of pharyngeal discomfort after extubation in both groups were observed. Immediately after extubation (T0), and at 1, 6, 24, 48 and 72 h after extubation (T1, T6, T24, T48, T72), pharyngeal symptoms (sore throat, foreign body sensation in throat, hoarseness) were scored by visual analogue scale (VAS). The mucosal responses of pharynx and larynx were evaluated by scores of the World Health Organization (WHO) pharyngeal and laryngeal mucosal responses. The scores of pharyngeal and laryngeal mucosal responses of two groups at the 6 time points (T0, T1, T6, T24, T48, T72) were compared by double-factor repeated measure ANOVA. The intra-group and inter-group comparison of VAS scores of three kinds of throat symptoms in two groups at the 6 time points were conducted by Mann-Whitney U test. This study was approved by the Ethics Committee of the People′s Hospital of Luzhai (Approval No. 202012KD002). Patients and their families gave informed consent to the treatment and signed informed consent forms.Results:① There were no significant differences in VAS scores of sore throat and hoarseness between two groups at T0 (P>0.05). The VAS score of pharyngeal foreign body sensation at T0 in observation group was lower than that in control group, and the difference was statistically significant (P<0.05). ② The VAS scores of sore throat, foreign body sensation in throat and hoarseness at T1, T6, T24, T48 and T72 in observation group were lower than those in control group, respectively, and the differences were statistically significant (all with P<0.05). ③ There were significant differences in inter-group comparison of VAS scores of three kinds of throat symptoms at T0, T1, T6, T24, T48 and T72 in observation group, respectively, (all with P<0.001), which were the same in control group. ④ There were significant differences in scores of pharyngeal and laryngeal mucosal response of two groups at T0, T1, T6, T24, T48 and T72, including inter-group principal effect, inter-group with time interaction effect and time principal effect (Finter-group=626.46, P<0.001; Finter-group × time=12.02, P<0.001; Ftime=436.81, P<0.001). ⑤ The incidence of pharyngeal discomfort in observation group was lower than that in control group, and the difference was statistically significant (22.0% vs 39.0%, χ2=6.82, P=0.009).Conclusions:Budesonide suspension for aerosol inhalation combined with dyclonine mucilage smearing with tracheal catheter can reduce pharyngeal discomfort in patients undergoing tracheal intubation under general anesthesia during gynecological laparoscopy surgery.
Objective:To explore clinical characteristics, diagnosis and treatment results of a child with mild Gitelman syndrome (GS), and review related literature, so as to provide reference for clinical diagnosis of children with GS.Methods:One girl (patient-1) with mild GS who visited People′s Hospital of Wuchuan County on August 25, 2021 was selected as research subject. Her clinical data were retrospectively analyzed, including medical history, clinical manifestations, laboratory tests and genetic test results, treatment and follow-up results. Literature of children aged 0 to 18 years with a confirmed diagnosis of GS caused by SLC12A3 gene mutations were retrieved with " Gitelman syndrome" " child" and " SLC12A3" etc. as keywords in CNKI, Wanfang service platform and PubMed database, and the search time was set from January 2018 to December 2022. The initial clinical manifestations of children with GS were summarized. The procedure followed in this study was in accordance with regulations of the Ethics Committee of People′s Hospital of Wuchuan County, and was reviewed and approved by the Ethics Committee (Approval No.02-2022).Results:①Patient-1 was a girl of 11 years and 8 months old who admitted to case collected hospital with " recurrent abdominal pain and low serum K+ concentration for 7+ years". Her condition began at age of 4, with abdominal pain as primary clinical manifestation, combined or non-combined with diarrhea. There was no abdominal distention, occasional mild fatigue, without symptoms of limb convulsions, numbness, excessive sweating, increased thirst, polyuria, or enuresis, and with long-term hypokalemia. Physical examination at admission showed that abdomen was soft with no palpable masses throughout. The results of relevant auxiliary examinations at admission showed low serum K+ concentration which was 3.13 mmol/L, while serum Mg2+, Ca2+, Na+, and Cl- concentrations were normal, and result of renal ultrasound was also normal. Her condition was recurrent, without a clear cause for low serum blood K+ concentration, and treatment effect on serum K+ concentration by potassium supplementation was poor. Her result of genetic testing showed SLC12A3 gene compound heterozygous mutations: c.1000C>T(p.Arg334Trp) and c. 1034C>T(p.Ser345Phe), inherited from her father and mother, respectively. Based on her clinical manifestations and genetic testing results, she was diagnosed as GS. After oral treatment by potassium chloride (KCl), spironolactone and enalapril, her gastrointestinal symptoms disappeared and serum K+ concentration recovered to normal level when followed up to May 2022. ②Literature review results: a total of 26 pieces of relevant research literature involving 58 cases of GS children were retrieved. Among them, 6 children initially presented with gastrointestinal symptoms at the onset of GS, 2 cases were initially admitted with other conditions and were later diagnosed with GS through result of genetic testing. Initial symptoms in the other 48 cases included low serum K+ concentrations, short stature, infections, fatigue, muscle pain, seizures, and hyperthyroidism.Conclusions:So far, there are few literature has been reported on GS children with slightly low serum K+ concentration whose main symptoms were gastrointestinal discomfort. Due to their atypical clinical manifestations, they are prone to be missed diagnosis and misdiagnosis. Genetic testing serves as a crucial method for confirming diagnosis of children with GS. Early diagnosis and treatment can improve their quality of life.
Objective:To analyze ultrasonographic characteristics and concomitant malformations and prognosis of absent pulmonary valve syndrome (APVS).Methods:From November 2010 to December 2020, a total of 26 fetuses (fetus 1-26) diagnosed as APVS in Beijing Anzhen Hospital, Capital Medical University were selected in the study, and they were enrolled into APVS group. Meanwhile, other 78 healthy fetuses who prenatal examination at the same hospital and fetal age match with APVS group were enrolled into control group. Fetal age at diagnosis, cardiothoracic ratio, cardiac axis, presence of combined intra- and extracardiac malformations and heart failure, ventricular septal defect (VSD) size, aortic ride-through rate, lung area, aortic valve annular diameter, pulmonary valve annular diameter, pulmonary artery trunk and branch diameter, left atrial internal diameter, left ventricular internal diameter, right atrial internal diameter, right ventricular internal diameter, aortic valve flow velocity and pulmonary valve flow velocity were collected and compared between 2 groups. Further, 4 fetuses with copy number variant sequencing (CNV-seq) results were collected. The influencing factors of fetal APVS diagnosis and identification were analyzed by multivariate unconditional logistic regression analysis. The procedure followed in this study conformed to the standards formulated by the Ethics Committee of Beijing Anzhen Hospital, Capital Medical University, and was approved by the Ethics Committee (Approval No. 2023135X). Written informed consents were obtained from pregnant mother of all fetuses.Results:①Among 26 cases of APVS fetuses, 17 cases (17/26, 65.4%) were tetralogy of Fallot (TOF)-type APVS, 4 cases (4/26, 15.4%) were isolated APVS, and 5 cases (5/26, 19.2%) were complicated with heart malformation.② Echocardiography of 26 APVS cases showed stenosis of pulmonary valve ring, absence or dysplasia of pulmonary valve leaves, and tumor-like expansion of pulmonary trunk and left and right branches. Examination result of color doppler flow imaging(CDFI)showed severe regurgitation of fetal pulmonary valve in 26 cases, and pulsed-wave Doppler (PW) measured increased blood flow velocity of fetal pulmonary valve in 23 cases. ③Among 26 APVS fetuses, 1 case was stillborn, 18 cases were induced to terminate pregnancy, and 12 cases of 19 cases were confirmed by autopsy. One of them was misdiagnosed as pulmonary valve stenosis by fetal echocardiography. Seven cases lost follow-up. ④ There were significant differences in fetal heart axis, cardiothoracic ratio, right ventricular diameter, aortic annulus diameter, pulmonary annulus diameter, left pulmonary artery diameter, right pulmonary artery diameter, aortic valve velocity and pulmonary valve velocity between two groups (P<0.05). ⑤Multivariate unconditional logistics regression analysis showed that gestational age (OR=0.538, 95%CI: 0.295-0.984, P=0.044), right ventricular diameter (OR=2.772, 95%CI: 1.024-7.511, P=0.045), cardiac axis (OR=1.331, 95%CI: 1.101-1.608, P=0.003), and cardiothoracic ratio (OR=2.084, 95%CI: 1.082-4.017, P=0.028) were influencing factors to identify the existence of fetal APVS.Conclusions:Fetal APVS is a rare conic malformation. Pulmonary valve absence or hypoplasia, pulmonary valve ring stenosis, pulmonary artery trunk or branch tumor-like dilation are typical ultrasound features. Combined with the parameters of cardiac axis, right ventricle and cardiothoracic ratio, it will improves the prenatal ultrasound diagnosis rate. Fetal APVS affects the development of left lung. The prenatal ultrasound diagnosis of fetal APVS provides important information for prenatal prognosis consultation and timely treatment after birth.
Objective:To explore the correlation of abnormal expression of X-linked inhibitor of apoptosis protein (XIAP) and XIAP associated factor (XAF)1 with ovarian cancer.Methods:A total of 72 patients diagnosed with ovarian cancer based on postoperative histopathological examination following comprehensive staging surgery in the Department of Gynecology, West China Second University Hospital, Sichuan University from June to December 2018 were selected as subjects, and were included into ovarian cancer group. Based on results of histopathological examination, they were further divided into moderately and well-differentiated subgroup (n=24) and poorly differentiated subgroup (n=48), serous carcinoma subgroup (n=36) and non-serous carcinoma subgroup (n=36); according to the International Federation of Gynecology and Obstetrics (FIGO) clinical staging, they were further divided into stage Ⅰ-Ⅱ subgroup (n=35) and stage Ⅲ-Ⅳ subgroup (n=37), without lymph node metastasis subgroup (n=59) and lymph node metastasis subgroup (n=13). And 35 ovarian benign tumor patients who underwent unilateral ovarian cystectomy for ovarian teratoma, ovarian cyst, and so on in the same hospital during the same period and were histopathologically diagnosed with benign ovarian tumors postoperatively, were included into benign tumor group. And 30 patients who underwent total hysterectomy with bilateral salpingo-oophorectomy for adenomyosis and uterine fibroids and were histopathologically diagnosed with adenomyosis and uterine fibroids, while maintaining normal ovarian function, were included into normal control group. Immunohistochemistry (IHC) was used to detect the expression of XIAP and XAF1 in surgically excised ovarian tissues of three groups. Chi-square test were conducted for comparison of positive expression rates of XIAP and XAF1 in surgically excised ovarian tissue among three groups. Spearman′s rank correlation analysis was used to analyze the correlation between XAF1 and XIAP expression in patients of ovarian cancer group. There were no statistical differences among three groups in general clinical data, such as age and so on (P>0.05). The procedures followed in this study were in accordance with the requirements of World Medical Association Declaration of Helsinki revised in 2013.Results:①The positive expression rates of XIAP in ovarian tissue of ovarian cancer group, benign tumor group and normal control group were 81.3% (60/72), 51.4% (18/35), 46.7% (14/30), respectively, and XAF1 positive expression rates were 38.9% (28/72), 80.0% (28/35), 86.7% (26/30), respectively. There were statistically significant differences in overall comparison of positive expression rates of XIAP and XAF1 in ovarian tissue of three groups (χ2=18.12, 28.06; P<0.001). Further pairwise comparisons revealed that the positive expression rate of XIAP in ovarian tissue of ovarian cancer group was significantly higher than that in benign tumor group and normal control group, while the positive expression rate of XAF1 in ovarian tissue of ovarian cancer group was significantly lower than that in benign tumor group and normal control group, and all the differences were statistically significant (P all <0.001). However, there were no statistically significant differences in positive expression rates of XIAP and XAF1 in ovarian tissue of benign tumor group and normal control group (P=0.072, 0.475). ②The positive expression rates of XIAP in ovarian tissue of ovarian cancer patients in poorly differentiated subgroup, Ⅰ-Ⅱ subgroup and without lymph node metastasis subgroup were 91.7% (44/48), 51.4% (18/35) and 45.8% (27/59) respectively, which all were significantly higher than a rate of 66.7% (16/24) in moderately and well-differentiated subgroup, 27.0% (10/37) in Ⅲ-Ⅳ subgroup, and 7.7% (1/13) in lymph node metastasis subgroup (χ2=7.20, 4.51, 6.50; P=0.007, 0.034, 0.011). ③In ovarian tissue of serous carcinoma subgroup and non-serous carcinoma subgroup, there were no statistically significant differences in correlation between positive expression intensities of XIAP and XAF1 (rs=-0.315, 0.094; P=0.585, 0.062).Conclusions:Compared to normal ovarian tissue and benign ovarian tumor tissue, ovarian cancer tissue exhibits decreased expression of XAF1 and increased expression of XIAP. Among ovarian cancer patients, expression of XIAP in ovarian cancer tissue is associated with the differentiation degree of ovarian cancer tissue, while expression of XAF1 is related to FIGO clinical stage and lymph node metastasis. The correlation between XIAP and XAF1 in ovarian cancer patients needs to be confirmed by further studies.
Sepsis-induced coagulopathy (SIC) is a common disease in newborns and an important cause of neonatal death. At present, it is believed that there is a close relationship between inflammation and coagulation dysfunction in SIC newborns, but the mechanism of their interaction is still unclear, and it is lack of uniform standard treatment plan to prevent SIC in newborns with sepsis. The author intends to elaborate on the latest research progress in pathogenesis, serum monitoring indicators, and treatment of neonatal SIC, with the aim of providing reference for further clinical and basic research on SIC and improving the prognosis of newborns with SIC.
The clinical manifestations of childhood-onset systemic lupus erythematosus (cSLE) are diverse, except for some typical manifestations of fever and rash, and the clinical manifestations are different due to different organs involved, among which the kidney is the most susceptible organ with cSLE, and also one of the main causes of death. Early identification of cSLE, assessment of disease activity, and selection of appropriate treatment regimens can effectively protect the renal function of children with this disease, and improving the prognosis of children is the key to treatment. In the past, children with lupus nephritis (LN) paid more attention to glomerular involvement, and the pathological damage of the glomerulus was used as the basis for clinical classification of LN, and more and more studies suggest that cSLE-related tubulointerstitial injury (TIN) in children, although there is no specific clinical manifestation, but it has a significant impact on the treatment of children with LN and the improvement of their prognosis. The author intends to elaborate on the clinical diagnosis and pathogenesis of LN children, the clinical significance and predictive indicators of TIN in LN children, and the latest research status of TIN in LN children, aiming to improve clinical understanding of cSLE-related TIN and further strengthen the management of children with LN.
Objective:To explore the clinical manifestation, genetic characteristics, treatment and outcome of neonatal tuberous sclerosis complex related epilepsy (TRE).Methods:A newborn(child 1) of tuberous sclerosis complex (TSC) with frequent epileptic seizure in neonatal period admitted to Tongji Hospital, Tongji Medical College of Huazhong University of Science and Technology in August, 2021 was chosen in this study. Retrospective analysis was made on the family history, clinical manifestation, laboratory results, head imaging and molecular biology data, diagnosis, treatment and prognosis. The clinical features of neonatal TRE were summarized based on literature review of TRE related studies retrieved in domestic and foreign databases. The study followed the requirements of the World Medical Association Declaration of Helsinki revised in 2013. The guardians informed consent to the diagnosis and treatment of the child 1.Results:① Child 1 was a male newborn and admitted at age of 28 d due to seizure occurred on the 10 d after birth and lasted for more than half month.His cranial CT and MRI showed multiple nodules under the cortex of bilateral frontal parietal lobes and subependymal of bilateral lateral ventricles. Electroencephalogram detected focal seizure. Whole exome sequencing revealed a heterozygous splicing mutation (c.3884-1G>A) in the TSC2 gene of child 1, and it was a suspicious pathogenicity variation originated from his mother. He was improved after antiepileptic treatment of more than 3 kinds of anti-seizure medication (ASM). However, he still had recurrent seizures and was slightly behind normal children of the same age in development. He was treated with surgical treatment of epilepsy at age of 4 months 25 days, and epilepsy was controlled and intelligence was normal followed up to the age of 11 months. ② Literature review results: a total of 18 pieces of literature related to neonatal TRE, including 41 cases from 41 families plus child 1. The median onset age of 39 children was 5 d after birth, and 59.0% had the first seizure in the first week after birth. Among the 41 cases, 68.3% were focal seizures and 66.7% were intractable seizures. 18 cases(43.9%)had accepted gene detection, with TSC1 gene mutations accounting for 16.7% and TSC2 gene mutations accounting for 72.2%. Among 35 cases who were followed up, 57.1% showed mental retardation compare to children of the same gender and age.Conclusions:Most neonatal TRE was early onset, focal seizure and refractory. Surgical treatment may be helpful to drugs resistant epilepsy. Children with this disease should be followed up for a long time, paying attention to whether there is any neurological system lesion.
Objective:To explore whether FK506 has anti-vascular remodeling effect and its mechanism on prenatal administration of tacrolimus (FK506) in rats with experimental pathological model of pulmonary arterial hypertension (PAH) associated with congenital diaphragmatic hernia (CDH).Methods:Seventeen healthy, adult specific pathogen free (SPF)-grade Sprague Dawley (SD) rats were selected in this study, all of which were 8 weeks old, with 12 females and 5 males, respectively. The CDH rat model was made with nitrofen. After a successful pregnancy, they were randomly divided into FK506 group (n=3), CDH group (n=3), CDH+ FK506 group (n=3) and control group (n=3). The development of lung tissue in each group were observed. The vessel wall thickness of the pulmonary arteries was observed by elastic van gieson (EVG) staining, immunofluorescent double staining of α-SMA and CD31 for the detection of neo-vascularization. The expression levels of BMPR2, p-Smad1 and p-Smad5 in fetal rats lungs were determined using Western blotting. The study was performed with the approval of the Ethics Committee of Sichuan Provincial People′s Hospital, University of Electronic Science & Technology of China [Approval No.2022(19)].Results:①The overall comparison of lung weight and lung weight/body weight of 4 groups showed statistically significant differences (H=81.25, 106.98; both P<0.001), while the overall comparison of body weight of 4 groups showed no statistical significance (P>0.05). EVG staining showed that the percentage of pulmonary artery media thickness (MT%) and alveolar area (S%) in 4 groups were statistically significant differences (F=13.26, P=0.006; F=37.48, P<0.001). Further, EVG staining showed that MT% in CDH group was greater than that in control group (P=0.001), The MT% of pulmonary artery in CDH+ FK506 group was lower than that in CDH group (P=0.002). ③Overall comparison of the proliferation indices of α-SMA and CD31-positive cells among 4 groups, respectively, showed statistically significant differences (F=33.76, 9.180; P<0.05). Further, The differences between CDH group and CDH+ FK506 group and control group were statistically significant (P<0.05). ④Western blotting analysis showed that the overall comparison of relative expression levels of BMPR2 and p-SMAD1 proteins in fetal rats of 3 groups had statistically significant differences (F=11.45, 10.94; P<0.05), while the overall comparison of the relative expression levels of p-SMAD5 protein in fetal rats of 3 groups did not show statistically significant difference (F=0.01, P>0.05). Further, the relative expression levels of BMPR2 and p-Smad1 in CDH group were lower than those in control group (P=0.049, 0.018), and the relative expression levels of BMPR2 and p-Smad1 in CDH+ FK506 group were higher than those in CDH group (P=0.010, 0.023).Conclusions:Prenatal administration of FK506 can reduce pulmonary vascular remodeling in Nitrofen-induced CDH rat model, it has beneficial effects on alleviating lung hypoplasia in congenital diaphragmatic hernia.
Objective:To investigate the risk factors for bronchopulmonary dysplasia (BPD) combined with metabolic bone disease (MBD) in premature infants.Methods:A total of 151 preterm infants with BPD admitted to Neonatal Intensive Care Unit (NICU) of the Affiliated Hospital of Qingdao University from January 1, 2018 to December 31, 2020 were selected into this study. According to whether BPD infants had MBD or not, they were divided into BPD complicated with MBD group (n=41) and BPD alone group (n=110). Retrospective analysis was performed to analyze the clinical case data, the occurrence of other complications except MBD, the treatment time of non-invasive positive pressure ventilation and invasive mechanical ventilation, drug treatment, serum biochemical indexes, enteral and parenteral nutrition between two groups.Pearson column correlation number was used to analyze the correlation between the severity of BPD and MBD between two groups. The statistically significant variables in the univariate analysis were included in the multivariate unconditional logistic regression analysis to explore influencing factors of BPD combined with MBD in preterm infants.The research procedures followed in this study were approved by the Medical Ethics Committee of the Affiliated Hospital of Qingdao University (QYFY WZLL 26771), and written informed consents were obtained from all guardians of the children.Results:① The gestational age and birth weight of BPD complicated with MBD group were lower than those of BDP alone group, and the differences were statistically significant (P<0.05). ② The duration of non-invasive positive pressure ventilation and hospital stay of BPD complicated with MBD group were both longer than those in BPD alone group, and the difference was statistically significant (P<0.05). The incidence of neonatal sepsis and neonatal necrotizing enterocolitis (NEC) in BPD complicated with MBD group during hospitalization were higher than those in BPD alone group, and the difference were statistically significant (P<0.05). ③ There were statistically significant differences in the concentration of 25-hydroxyvitamin D[25 (OH) D], serum alkaline phosphatase (ALP) and blood phosphorus between two groups at the first and 21st day after the birth (P<0.05). ④ The parenteral nutrition time and breastfeeding time of BPD complicated with MBD group were longer than those of BPD alone group, and the differences were statistically significant (P<0.05). On the 28th day after birth, total calories, enteral nutrient calories, enteral protein and parenteral amino acids in BPD complicated with MBD group were lower than those in BPD alone group, and the differences were statistically significant (P<0.05). ⑤ There was a significant positive correlation between the severity of BPD and MBD in premature infants of BPD complicated with MBD (r=0.381, P<0.05). ⑥ Multivariate logistic regression analysis of MBD in premature infants with BPD showed that non-invasive positive pressure ventilation time (OR=1.043, 95%CI: 1.015-1.072, P=0.003) and parenteral nutrition time (OR=1.041, 95%CI: 1.008-1.075, P=0.014), all of which were independent risk factors for MBD in premature infants with BPD. Serum 25(OH)D level at day 21 of birth was an independent protective factor for MBD in premature infants with BPD (OR=0.919, 95%CI: 0.858 ~ 0.984, P=0.015).Conclusions:Increased serum 25(OH)D level within 3 weeks after birth can reduce the risk of MBD in preterm infants with BPD. Early after birth, premature infants with BPD should be given active enteral nutrition support to ensure appropriate serum 25(OH)D level, and bone metabolism indexes should be evaluated regularly, so as to reduce the probability of developing MBD in premature infants with BPD, and to improve the prognosis and long-term outcome of children with BPD and MBD.
Objective:To explore ultrasonic manifestations and clinical features of inguinal ovarian hernia (IOH) in female infants and review related literature.Methods:One case of a girl (child 1) with left IOH, aged 11 months and 20 days, who was treated in West China Second University Hospital, Sichuan University on December 21, 2020 was selected as research subject. Her ultrasonic manifestations and clinical data were collected by retrospective analysis method. Her ultrasonic manifestations, clinical features, treatment and prognosis were summarized. With the following key words of " ovarian hernia" " infant" " ultrasound" " inguen" " incarcerated hernia" in both Chinese and English, literature related to IOH in infants was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform and PubMed. Literature retrieval time was set from January 1, 2010 to December 31, 2022. The procedures followed in this study complied with the requirements of newly revised Helsinki Declaration of the World Medical Association in 2013.Results:①Child 1 was an 11 months and 20 days old female infant who was admitted to case collected hospital for treatment due to a left inguinal mass(IM) for 10+ months. Bilateral inguinal color Doppler ultrasound at admission showed that child 1 had bilateral inguinal hernia (contents of left hernia were ovary and intestine, and content of right hernia was intestine), and blood flow signals were detected in both bilateral masses. Child 1 received bilateral inguinal hernia repair under laparoscope, and the condition improved, and discharged from hospital 3 days after surgery. ②Literature review results: according to the retrieval strategy set in this study, 28 pieces of literature related to ultrasound diagnosis of IOH in infants were retrieved, involving 68 female children ≤ 6 years old with IOH (child 2-69). The clinical data analysis results of 69 children with IOH (child 1 to 69) were as follows. A total of 65 children had the first symptom of an IM, while 4 children combined with repeated crying. All 69 children underwent surgical treatment, and 67 cases had unilateral ovarian hernia confirmed during surgery (33 cases combined with ovarian incarceration, 3 cases combined with fallopian tube hernia, 3 cases combined with uterine hernia and 4 cases combined with bilateral ovarian and uterine herniated into unilateral inguinal region), and 2 cases had bilateral IOH (both combined with ovarian incarceration). And 13 children had ovarian necrosis (preoperative color Doppler ultrasound of 12 cases showed the mass in inguinal without any blood flow signal, just 1 case had; 12 children underwent surgical removal of ovaries, including 2 cases combined with ovarian torsion, one child remain the ovary, which was atrophying severely during the ultrasound follow-up). The other 56 children had a good prognosis after the ovary retraction during operation.Conclusions:Ultrasonography can help clinicians to diagnose IOH in infants, and the main ultrasonic feature is ovarian echoes in inguinal region. Surgery is the main treatment for IOH in infants. For female infants with IM, clinicians should be alert to the possibility of IOH. Early diagnosis and timely treatment can avoid ovarian necrosis and preserve ovary functions of infants with IOH.
Endotracheal intubation is one of the most important techniques to manage airway in pediatrics. However, the variations of endotracheal cuff pressure were rarely noticed by anesthesiologists, especially intubated critically ill children. The aim of endotracheal cuff inflation is to maintain occlusion of airway and effectiveness of ventilation. Insufficient cuff inflation can lead to aspiration and inadequate ventilation. And overinflation of cuff causes ischemia and necrosis of tracheal mucosa yet. According to previous guidelines, the recommending endotracheal cuff pressure was 20-30 cmH2O(1 cmH2O=0.098 1 kPa) in adults. However, up to now researches on appropriate cuff pressure were limited in children due to ethical problem as well as their characteristics of physiology and anatomy. This article reviews current evidence of different endotracheal tube types, inflation technology, influencing factors of cuff pressure, and postoperative intubated-associated complications in children with the aim of providing the evidence for improving the quality of mechanical ventilation and clinical techniques in children.
Objective:To investigate the death-related factors in children with sepsis among Pediatric Intensive Care Unit (PICU).Methods:From June 2019 to January 2021, 234 children with sepsis admitted to PICU of West China Second University Hospital, Sichuan University were selected in this study. They were divided into death group (n=44) and survival group (n=190) based on whether they died during PICU stay. Clinical data and laboratory test results within 24 hours of admission were retrospectively analyzed. Based on factors with statistically significant differences (P<0.05) in the univariate analysis and clinical experience, multivariate unconditional logistic regression analysis was conducted to identify the death-related factors of children with sepsis, and a logistic regression equation (predictive model) was established. Receiver operating characteristic (ROC) curves were used to evaluate the predictive value of different indicators for mortality risk in children with sepsis, and the area under the curve (AUC) was calculated. The procedures followed in this study was in line with the World Medical Association Declaration of Helsinki revised in 2013.Results:① There were statistically significant differences in the age, severity of sepsis, and proportion of patients using vasoactive drugs between two groups (P<0.05). There were also statistically significant differences in the proportion of patients with different levels of sepsis severity between patients aged <5 years and those aged ≥5 years (P<0.05). ② There were statistically significant differences in the levels of serum platelet count (PLT), alanine transaminase (ALT), blood urea nitrogen, serum creatinine (SCr), prothrombin time (PT), serum HCO3-, and lactate between two groups (P<0.05). ③ There were statistically significant differences in the Glasgow score, pediatric sequential organ failure assessment (pSOFA), and pediatric risk of mortality Ⅲ(PRISM Ⅲ) scores between two groups (P<0.05), but no statistically significant difference in the pediatric critical illness score (PCIS) score (P>0.05). ④Multivariate unconditional logistic regression analysis showed that age (OR=1.011, 95%CI: 1.005-1.018, P<0.001) and lactate level (OR=1.132, 95%CI: 1.005-1.275, P=0.041) were independent risk factors for prognosis of children with sepsis. The logistic regression equation (y=0.918-0.312x1+ 0.124x2+ 0.011x3, where x1 is the Glasgow score, x2 is the lactate level, and x3 is age) had good predictive value for mortality risk in children with sepsis, with the ROC-AUC of 0.84 (95%CI: 0.775-0.904, P<0.05). Its sensitivity was 86.4%, and its specificity was 68.4%.Conclusions:The logistic regression equation established in this study has higher sensitivity and comprehensive value in predicting mortality risk in children with sepsis than the pSOFA score and PRISMⅢ score, and are suitable for early screening of poor prognosis in children with sepsis.
Objective:To explore the clinical characteristics and diagnosis and treatment strategies of papillary urothelial neoplasms of low malignant potential(PUNLMP).Methods:One pregnant woman with PUNLMP delivered on 4 August 2022 was selected into this study. A retrospective study method was used to collect the clinical case data of this patient, and summarize the clinical manifestations, diagnosis and treatment process.With " pregnancy with bladder tumor" " pregnancy with papillary urothelial neoplasms with low malignant potential" " bladder tumor" " papillary urothelial neoplasms of low malignant potential" and " pregnancy", relevant documents were searched in CNKI, Wanfang service platform and PubMed database and Web of Science (WOS) databases, and the search time was set as the database establishment from January 2004 to January 2023.The procedure followed in this study met requirements of the Helsinki Declaration of the World Medical Association revised in 2013, and signed clinical study informed consent with all subjects.Results:①Clinical characteristics of this patient were as follows. This patient was a 30-year-old primipara woman who developed " gross hematuria" at 25 gestational weeks and came to the hospital. Physical examination: no blood in the vagina and perianus; obstetric ultrasound: no abnormality; urological ultrasound results: the posterior wall of the bladder found 3.1 cm×2.5 cm×1.3 cm slightly strong echo; after one day, the urine blood stopped. Occasional urinary frequency and urgency, urology observation and follow-up. Macroscopic hematuria appeared again at 35 gestational weeks. Urinary tract ultrasound: in the posterior wall of the bladder, a slightly strong echo of 2.1 cm×1.7 cm×2.0 cm appeared, with a clear boundary, no exact blood flow signal, and no obvious position change. She went to the Department of Urology of West China Hospital again. The doctor considering that the bladder was a solid mass, the possibility of malignancy was not ruled out, and cystoscopy was recommended. After full doctor-patient communication, the patient chose to wait for delivery before handling the bladder space. The patient delivered a live male baby after 38+ 6 weeks of gestation. Routine results of urinary catheterization during delivery: occult blood (2+ ), urinary protein (-), urinary bacteria were 19 048 cells/μL, no purulent cells and pathological tubes.The puerperum recovered well, and no gross hematuria appeared postpartum.Transurethral bladder tumor resection of TURBT (88 days postpartum), postoperative pathological results: papillary tumor, supported the diagnosis of papillary urothelial neoplasms with low malignant potential.The patient recovered well from the puerperium, no postpartum gross hematuria, no urinary tract irritation symptoms, no low back pain and other discomfort.②Results of literature review were as follows.According to the literature search strategy, no literature on pregnancy with PUNLMP was retrieved, and 9 articles were found on 12 cases of pregnancy with bladder tumor, 11 cases received TRUBT during pregnancy and 1 case without TRUBT during pregnancy; all patients were not PUNLMP; only 3 patients received postoperative chemotherapy after definite diagnosis, and 1 case received mitomycin chemotherapy during pregnancy.Conclusions:Pregnancy combined with PUNLMP is relatively rare clinically, and the mechanism of its occurrence is not clear. The choice of diagnosis should avoid the examination that may cause fetal malformation, and attention should be paid to the choice of treatment timing and regimen.
