OBJECTIVES: Keratoconus (KC) is a progressive corneal ectasia disorder, arising from a myriad of causes including genetic predispositions, environmental factors, biomechanical influences, and inflammatory reactions. This study aims to identify potential pathogenetic gene mutations in patients with sporadic KC in the Han Chinese population. METHODS: Twenty-five patients with primary KC as well as 50 unrelated population-matched healthy controls, were included in this study to identify potential pathogenic gene mutations among sporadic KC patients in the Han Chinese population. Sanger sequencing and whole-exome sequencing (WES) were used to analyze mutations in the zinc finger protein 469 (ZNF469) gene. Bioinformatics analysis was conducted to explore the potential role of ZNF469 in KC pathogenesis. RESULTS: Five novel heterozygous missense variants were identified in KC patients. Among them, 2 compound heterozygous variants, c.8986G>C (p. E2996Q) with c.11765A>C (p. D3922A), and c.4423C>G (p. L1475V) with c.10633G>A (p. G3545R), were determined to be possible pathogenic factors for KC. CONCLUSIONS Mutations in the ZNF469 gene may contribute to the development of KC in the Han Chinese population. These mutation sites may provide valuable information for future genetic screening of KC patients and their families.
Adolescent ; Adult ; Female ; Humans ; Male ; Case-Control Studies ; China/ethnology* ; Exome Sequencing ; Genetic Predisposition to Disease ; Keratoconus/genetics* ; Mutation ; Mutation, Missense ; Transcription Factors/genetics* ; East Asian People/genetics*

To compare the clinical efficacy of intralesional corticosteroid injection combined with topical corticosteroids versus topical corticosteroids alone in patients with idiopathic granulomatous mastitis (IGM).

Objective:This study intends to analyze the differences of indexes between the death group and the survival group of CSA-AKI patients undergoing CRRT before, during, and after heart surgery, and at the beginning and the end of CRRT, and to study the risk factors affecting the death of patients, so as to provide guidance for improving the prognosis.Methods:From January 2020 to October 2022, a total of 101 patients (59 in the mortality group and 42 in the survival group) were admitted to the Department of Cardiac Surgery at the First Affiliated Hospital of Zhengzhou University for cardiac surgery complicated by acute kidney injury necessitating postoperative continuous renal replacement therapy (CRRT). A retrospective analysis of clinical data was conducted to ascertain the risk factors influencing the 30-day mortality rate.Results:The postoperative complications of the two groups showed that the mortality group had a large proportion of MODS and LCOS ( P<0.05). Multivariate regression analysis showed that intraoperative mean arterial depression, high SOFA score at the beginning of CRRT, high APACHE Ⅱ score at the beginning of CRRT, and low platelet at the end of CRRT were independent risk factors for death( P<0.05). ROC curve analysis shows that SOFA score and APACHE Ⅱ score at the beginning of CRRT have predictive value for the 30-day death risk of CSA-AKI patients receiving CRRT. Conclusion:Low intraoperative MAP, high SOFA and APACHE Ⅱ scores at the beginning of CRRT, and low platelets at the end of CRRT were independent risk factors for 30-day mortality risk in patients with CSA-AKI undergoing CRRT.

The aim of this study is to establish an gene editing method of Mesomycoplasma hyo-pneumoniae(Mhp)based on the homologous recombination principle.The restriction enzyme di-gestion and ligation method combined with gene synthesis were used to construct a shuttle plasmid to achieve replication in both Mhp and Escherichia coli(E.coli).The pGEM?-T vector was used as the skeleton.The oriC sequence of Mhp which can achieve the replication of the plasmid in Mhp was inserted into the vector.Sequences of the Spiroplasma promoter and puromycin resistance gene were then inserted into the above constructed plasmid to screen recombinant clones.The up-stream and downstream homologous arms of p97 were constructed to initiate homologous recombination.The recA gene of E.coli is inserted to improve the efficiency of homologous recom-bination.The obtained shuttle plasmid was then delivered into Mhp by electro-transformation or chemical transformation.A shuttle plasmid,pGEM?-Mhp-oriC-p 97,which can replicate in both Mhp and E.coli was constructed.With the transformation of this plasmid,the carried puromycin gene and recA gene can be expressed,the p97 gene can be edited.Finally,the genetically unstable p97 gene mutant was initially obtained.In this study,a tool for Mhp gene editing based on the principle of homologous recombination was established,which laid a foundation for the develop-ment of tools for studying the pathogenesis of Mhp.

Objective:To explore the association of 21-gene recurrence score (RS) and clinicopathologic characteristics of hormone receptor (HR) positive T1-3N1M0 breast cancer and its value in prognosis evaluation.Methods:The clinicopathological data of 287 patients with T1-3N1M0 breast cancer were collected, the 21-gene assay was completed, and follow-up was conducted. According to the 21-gene RS, the patients were divided into the RS<26 and RS≥26 groups. The relationship between the 21-gene RS and clinicopathological characteristics, treatment, recurrence, and metastasis was analyzed. Univariate and multivariate statistical analyses were used to analyze the risk factors for disease free survival (DFS).Results:The median RS of the 287 patients was 16. There were 240 cases with RS <26 and 47 cases with RS≥26. Tumor size, grade, estrogen receptor (ER), progesterone receptor (PR), and Ki-67 index were significantly different between the two cohorts ( P<0.05 for all). After a median follow-up of 74 months, the recurrence rate in the RS<26 group (8.3%) was significantly lower than that in the RS≥26 group (23.4%), the locoregional recurrence (LRR) rates in the RS<26 and RS≥26 groups were 2.1% and 0%,and the distant metastasis (DM) rates were 6.3% and 23.4%, respectively. The 5-year relapse free survival (RFS) rates of patients with RS<26 and RS≥26 were 93.8% (95% CI: 90.7%-96.9%) and 87.2% (95% CI: 78.2%-97.3%), and the 5-year DFS rates were 92.1% (95% CI: 88.7%-95.6%) and 85.1% (95% CI: 75.5%-95.9%), respectively, with significant differences between the two cohorts ( P=0.007 and P=0.006, respectively). Univariate analysis showed age, tumor size, grade, PR status, Ki-67 index and RS were prognostic factors for DFS ( P<0.05 for all). Multivariate analysis showed that age and tumor size were independent significant predictors for DFS ( P<0.05). Conclusions:The 21-gene RS of T1-3N1M0 breast cancer is related to tumor size, grade, ER, PR, and Ki-67 index. RS is an important factor affecting DM and DFS.

Objective:To explore the association of 21-gene recurrence score (RS) and clinicopathologic characteristics of hormone receptor (HR) positive T1-3N1M0 breast cancer and its value in prognosis evaluation.Methods:The clinicopathological data of 287 patients with T1-3N1M0 breast cancer were collected, the 21-gene assay was completed, and follow-up was conducted. According to the 21-gene RS, the patients were divided into the RS<26 and RS≥26 groups. The relationship between the 21-gene RS and clinicopathological characteristics, treatment, recurrence, and metastasis was analyzed. Univariate and multivariate statistical analyses were used to analyze the risk factors for disease free survival (DFS).Results:The median RS of the 287 patients was 16. There were 240 cases with RS <26 and 47 cases with RS≥26. Tumor size, grade, estrogen receptor (ER), progesterone receptor (PR), and Ki-67 index were significantly different between the two cohorts ( P<0.05 for all). After a median follow-up of 74 months, the recurrence rate in the RS<26 group (8.3%) was significantly lower than that in the RS≥26 group (23.4%), the locoregional recurrence (LRR) rates in the RS<26 and RS≥26 groups were 2.1% and 0%,and the distant metastasis (DM) rates were 6.3% and 23.4%, respectively. The 5-year relapse free survival (RFS) rates of patients with RS<26 and RS≥26 were 93.8% (95% CI: 90.7%-96.9%) and 87.2% (95% CI: 78.2%-97.3%), and the 5-year DFS rates were 92.1% (95% CI: 88.7%-95.6%) and 85.1% (95% CI: 75.5%-95.9%), respectively, with significant differences between the two cohorts ( P=0.007 and P=0.006, respectively). Univariate analysis showed age, tumor size, grade, PR status, Ki-67 index and RS were prognostic factors for DFS ( P<0.05 for all). Multivariate analysis showed that age and tumor size were independent significant predictors for DFS ( P<0.05). Conclusions:The 21-gene RS of T1-3N1M0 breast cancer is related to tumor size, grade, ER, PR, and Ki-67 index. RS is an important factor affecting DM and DFS.

The aim of this study is to establish an gene editing method of Mesomycoplasma hyo-pneumoniae(Mhp)based on the homologous recombination principle.The restriction enzyme di-gestion and ligation method combined with gene synthesis were used to construct a shuttle plasmid to achieve replication in both Mhp and Escherichia coli(E.coli).The pGEM?-T vector was used as the skeleton.The oriC sequence of Mhp which can achieve the replication of the plasmid in Mhp was inserted into the vector.Sequences of the Spiroplasma promoter and puromycin resistance gene were then inserted into the above constructed plasmid to screen recombinant clones.The up-stream and downstream homologous arms of p97 were constructed to initiate homologous recombination.The recA gene of E.coli is inserted to improve the efficiency of homologous recom-bination.The obtained shuttle plasmid was then delivered into Mhp by electro-transformation or chemical transformation.A shuttle plasmid,pGEM?-Mhp-oriC-p 97,which can replicate in both Mhp and E.coli was constructed.With the transformation of this plasmid,the carried puromycin gene and recA gene can be expressed,the p97 gene can be edited.Finally,the genetically unstable p97 gene mutant was initially obtained.In this study,a tool for Mhp gene editing based on the principle of homologous recombination was established,which laid a foundation for the develop-ment of tools for studying the pathogenesis of Mhp.

Objective:This study intends to analyze the differences of indexes between the death group and the survival group of CSA-AKI patients undergoing CRRT before, during, and after heart surgery, and at the beginning and the end of CRRT, and to study the risk factors affecting the death of patients, so as to provide guidance for improving the prognosis.Methods:From January 2020 to October 2022, a total of 101 patients (59 in the mortality group and 42 in the survival group) were admitted to the Department of Cardiac Surgery at the First Affiliated Hospital of Zhengzhou University for cardiac surgery complicated by acute kidney injury necessitating postoperative continuous renal replacement therapy (CRRT). A retrospective analysis of clinical data was conducted to ascertain the risk factors influencing the 30-day mortality rate.Results:The postoperative complications of the two groups showed that the mortality group had a large proportion of MODS and LCOS ( P<0.05). Multivariate regression analysis showed that intraoperative mean arterial depression, high SOFA score at the beginning of CRRT, high APACHE Ⅱ score at the beginning of CRRT, and low platelet at the end of CRRT were independent risk factors for death( P<0.05). ROC curve analysis shows that SOFA score and APACHE Ⅱ score at the beginning of CRRT have predictive value for the 30-day death risk of CSA-AKI patients receiving CRRT. Conclusion:Low intraoperative MAP, high SOFA and APACHE Ⅱ scores at the beginning of CRRT, and low platelets at the end of CRRT were independent risk factors for 30-day mortality risk in patients with CSA-AKI undergoing CRRT.

Objective:To analyze the impact of adolescent pregnancy on maternal and infant outcomes.Methods:A retrospective cohort study was conducted on 5 765 parturbirths in Jining Medical College Hospital from January 1, 2019 to December 31, 2020. The parturbirths were divided into adolescent group (maternal age<20 years, 280 cases), age group 1 (maternal age 20-24 years, 1 733 cases) and age groups 2 (maternal age 25-34 years, 3 752 cases). All information was collected through the hospital′s electronic case system. General data, pregnancy characteristics and outcomes were compared among the three groups by analysis of variance (ANOVA), χ 2 tests and binary logistics regression analysis was used to analyze the impact of adolescent pregnancy on maternal and infant outcomes. Results:In the adolescent group, the proportion of women with an education of junior high school or below, rural residence, no fixed income, unmarried, and no history of induced abortion were all significantly higher than those in age group 1 and age group 2 (82.50% vs 17.37%, 14.37%; 59.29% vs 42.70%, 43.36%; 80.71% vs 15.52%, 14.71%; 75.71% vs 12.23%, 9.97%; 82.50% vs 71.84%, 71.91%) (all P<0.05); there was no significant differences in age at menarche, body mass index before pregnancy, and weight gain during pregnancy among the three groups (all P>0.05). The proportion of preterm birth, low birth weight infants and transferring to neonatal intensive care unit (NICU) in the adolescent group were all significantly higher than those in age group 1 and age group 2 (5.36% vs 1.10%, 1.57%; 5.00% vs 0.23%, 0.05%; 21.79% vs 6.12%, 15.17%); the incidence of anemia in pregnancy in the adolescent group was significantly higher than that in age group 1 (15.36% vs 9.75%), and the incidence of postpartum hemorrhage was significantly higher than that in the age group 2 (10.71% vs 6.08%). The incidence of failed vaginal trials leading to cesarean section, amniotic fluid contamination, and episiotomy was significantly lower in the adolescent group than those in age group 2 (8.57% vs 15.22%, 10.71% vs 18.10%, 33.95% vs 40.01%) (all P<0.05). The incidence of failed vaginal trials leading to cesarean section was inversely associated with gestational age (adolescent group, OR=0.252, 95% CI: 0.123-0.515; age group 1, OR=0.673, 95% CI: 0.567-0.799) (both P<0.05); the risks of low birth weight infants (adolescent group, OR=7.440, 95% CI: 3.426-16.156; age group 1, OR=0.103, 95% CI: 0.032-0.330) and transferring to the NICU (adolescent group, OR=1.661, 95% CI: 1.120-2.463; age group 1, OR=0.360, 95% CI: 0.290-0.448) showed a U-shaped distribution in different pregnancy age groups, they were both higher in the adolescent group than those in the age group 2 (both P<0.05); the risk of episiotomy (adolescent group, OR=0.002, 95% CI: 0-0.016; age group 1, OR=1.308, 95% CI: 1.151-1.485) showed an inverted U-shape distribution across the different pregnancy age groups, it was lower in the adolescent group than that in age group 2 (both P<0.05). Conclusion:Adolescent pregnancy is associated with a lower risk of conversion to cesarean section and episiotomy due to failed vaginal delivery, but may increase the risk of low birth weight infants and transferring to NICU.

Objective To investigate the effect of nasal mask on preventing respiratory depression and hypoxia during anesthesia under painless gastroscopy.Methods 246 patients underwent elective painless gastroscopy from September 2022 to March 2023 were selected and divided into nasal catheter oxygen group(group C)and nasal mask oxygen group(group M)according to random number table method.The group C was inhaled oxygen by conventional nasal cannula,and in group M,oxygen was inhaled by a nasal mask.Patients in both groups were given 5 L/min preoxygenation for 3 min.After induction of anesthesia,gastroscopy was performed when modified observer's assessment of alertness/sedation(MOAA/S)score≤1.During anesthesia,hypoxia interventions were performed in group C based on percutaneous arterial oxygen saturation(SpO2)and in group M based on partial pressure of end-tidal carbon dioxide(PetCO2)and SpO2.The incidence of subclinical respiratory depression,hypoxia and severe hypoxia during anesthesia was recorded.The minimum SpO2 value during anesthesia was recorded;Implementation of intervention measures of jaw lifting,mask pressure oxygen and tracheal intubation.Record the number of gastroscope withdrawal cases.Mean arterial pressure(MAP),heart rate(HR),and respiratory rate(RR)were recorded at the time of entry(T0),immediately after induction of anesthesia(T1),at the end of gastroscopy(T2),and 5 minutes after awakening(T3).The occurrence of perioperative adverse events and the satisfaction of anesthesiologists and endoscopists were recorded.Results Compared with group C,the incidence of subclinical respiratory depression,hypoxia and severe hypoxia in group M was significantly decreased(P<0.05).The minimum value of SpO2 during anesthesia in group M was higher than that in group C(P<0.05).The incidence of jaw-lifting and mask ventilation were lower in group M than that in group C(P<0.05).The incidence of gastroscope withdrawal due to airway intervention in group M was lower than that in group C(P<0.05).Compared with T0,MAP,HR and RR of the two groups were significant reduction at T1 and T2(P<0.05).There was no significant difference in the incidence of adverse events between the two groups(P>0.05).The satisfaction of endoscopists in group M was higher than that in group C(P<0.05).Conclusion Compared with nasal catheter oxygen inhalation,anesthesia nasal mask can timely detect hypopnea and respiratory depression during gastroscopy,reduce the occurrence of hypoxia,and improve the airway safety of painless gastroscopy patients.