[This corrects the article DOI: 10.1016/j.apsb.2018.08.009.].

Objective:To provide preimplantation genetic testing (PGT) for a patient with Incontinentia pigmenti (IP) due to IKBKG gene variant but without family samples through construction of single nucleotide polymorphism (SNP)-based haplotype by Long-read sequencing (LRS) technology. Methods:A female IP patient with a heterozygous IKBKG c. 1167dup variant but without family genetic data who sought genetic counseling at Women and Children′s Hospital of Ningbo University in November 2021 was selected as the study subject. The IKBKG gene has a highly homologous pseudogene IKBKGP1. Genomic DNA was extracted from peripheral blood samples from the couple, and LRS was used to obtain informative SNP loci flanking the variant locus, enabling the construction of SNP haplotype with a long segment spanning from the non-homologous region of IKBKG to the variant site. Trophoblast cells were biopsied from blastocysts fertilized through intracytoplasmic sperm injection, and next-generation sequencing (NGS) was used to determine the SNP information of the embryos. Linkage analysis with the parental SNP haplotypes was conducted to detect the carrier status of the embryos and exclude chromosomal aneuploidies. Sanger sequencing was carried out to validate the result. A euploid embryo without the pathogenic variant was selected for transfer. Prenatal diagnosis was carried out by amniocentesis at mid-trimester to verify the result of PGT, and follow-up was conducted after the baby was born. This study has been approved by the Ethics Committee of the Women and Children′s Hospital of Ningbo University (Ethics No. EC2023-094). Results:In total seven blastocysts were tested, and PGT results indicated that two embryos were euploid and did not carry the pathogenic variant. One euploid embryo was transferred, which resulted in a singleton pregnancy. Amniocentesis at 24 weeks of gestation confirmed that the status of fetal IKBKG gene, and its chromosomal status was consistent with the PGT results. A healthy male infant was born at 38 + 6 weeks of gestation. Conclusion:For IP patients with de novo mutation or without family samples, PGT with LRS can directly construct the SNP-based haplotype while avoiding interference from pseudogenes, providing an effective strategy for PGT.

Objective To apply network Meta-analysis to evaluate the clinical efficacy of 3 classical prescriptions Xuebijing,Xijiao Dihuang decoction,and Qingyuan Shenghua decoction in treating sepsis complicated with coagulation dysfunction.Methods Computer-based searches were conducted in the following databases:China National Knowledge Infrastructure(CNKI),VIP Database,Wanfang Database,PubMed Database,and the Cochrane Library,to retrieve randomized controlled trial(RCT)on the treatment of sepsis complicated with coagulation dysfunction and disseminated intravascular coagulation(DIC)using 3 classical prescriptions-Xuebijing,Xijiao Dihuang decoction,and Qingyuan Shenghua decoction.The search period was from database inception to May 1,2023.The control group received conventional Western medicine treatment alone,while the treatment group received additional therapy with Xuebijing,Xijiao Dihuang decoction,or Qingyuan Shenghua decoction.Primary outcome measures included the sequential organ failure assessment(SOFA)score,acute physiology and chronic health evaluationⅡ(APACHEⅡ)score,activated partial thromboplastin time(APTT),D-dimer,fibrinogen(Fib),prothrombin time(PT)and platelet count(PLT).Two researchers evaluated and screened the included studies,performed data extraction,and assessed literature quality.The network Meta-analysis was conducted using Stata 17.0 software.Results A total of 27 RCTs were finally included,with 2268 cases enrolled.The network Meta-analysis results showed that the surface under the cumulative ranking curve(SUCRA):①In terms of improving APACHEⅡscores:Qingyuan Shenghua decoction combination group(93.2%)>Xuebijing combination group(67.9%)>Xijiao Dihuang decoction combination group(37.5%)>conventional Western medicine treatment alone group(1.4%);②In terms of improving SOFA scores:Qingyuan Shenghua decoction combination group(93.7%)>Xuebijing combination group(63.0%)>Xijiao Dihuang decoction combination group(41.8%)>conventional Western medicine treatment alone group(1.5%);③In terms of improving APTT:Qingyuan Shenghua decoction combination group(95.6%)>Xijiao Dihuang decoction combination group(57.1%)>Xuebijing combination group(46.6%)>conventional Western medicine treatment alone group(0.7%);④In terms of improving D-dimer:Xijiao Dihuang decoction combination group(86.1%)>Qingyuan Shenghua decoction combination group(80.5%)>Xuebijing combination group(33.3%)>conventional Western medicine treatment alone group(0.0%);⑤In terms of improving Fib:Xijiao Dihuang decoction combination group(97.5%)>Qingyuan Shenghua decoction combination group(63.5%)>conventional Western medicine treatment alone group(37.8%)>Xuebijing combination group(1.2%);⑥In terms of shortening PT:Qingyuan Shenghua decoction combination group(67.5%)>Xuebijing combination group(67.4%)>Xijiao Dihuang decoction combination group(63.0%)>conventional Western medicine treatment alone group(2.2%);⑦In terms of improving PLT:Xuebijing combination group(83.6%)>Qingyuan Shenghua decoction combination group(54.9%)>Xijiao Dihuang decoction combination group(49.4%)>conventional Western medicine treatment alone group(12.1%).Conclusion The 3 classical Chinese herbal prescriptions combined with conventional Western medicine all demonstrated significant improvement effects on sepsis complicated with coagulation dysfunction.Among them,Xuebijing showed the most stable clinical efficacy,improving both disease severity scores and multiple coagulation indicators.Qingyuan Shenghua decoction was more effective in improving overall prognosis compared to the other two prescriptions.As for Xijiao Dihuang decoction,its clinical efficacy in ameliorating sepsis-related thrombosis warrants further exploration.

OBJECTIVE: To provide preimplantation genetic testing (PGT) for a patient with Incontinentia pigmenti (IP) due to IKBKG gene variant but without family samples through construction of single nucleotide polymorphism (SNP)-based haplotype by Long-read sequencing (LRS) technology. METHODS: A female IP patient with a heterozygous IKBKG c.1167dup variant but without family genetic data who sought genetic counseling at Women and Children' Hospital of Ningbo University in November 2021 was selected as the study subject. The IKBKG gene has a highly homologous pseudogene IKBKGP1. Genomic DNA was extracted from peripheral blood samples from the couple, and LRS was used to obtain informative SNP loci flanking the variant locus, enabling the construction of SNP haplotype with a long segment spanning from the non-homologous region of IKBKG to the variant site. Trophoblast cells were biopsied from blastocysts fertilized through intracytoplasmic sperm injection, and next-generation sequencing (NGS) was used to determine the SNP information of the embryos. Linkage analysis with the parental SNP haplotypes was conducted to detect the carrier status of the embryos and exclude chromosomal aneuploidies. Sanger sequencing was carried out to validate the result. A euploid embryo without the pathogenic variant was selected for transfer. Prenatal diagnosis was carried out by amniocentesis at mid-trimester to verify the result of PGT tests, and follow-up was conducted after the baby was born. This study has been approved by the Ethics Committee of Women and Children's Hospital of Ningbo University (Ethics No. EC2023-094). RESULTS: A total of seven blastocysts were tested, and PGT results indicated that two embryos were euploid and did not carry the pathogenic variant. One euploid embryo was transferred, which resulted in a singleton pregnancy. Amniocentesis at 24 weeks of gestation confirmed that the status of fetal IKBKG gene, and its chromosomal status was consistent with the PGT results. A healthy male infant was born at 38+6 weeks of gestation. CONCLUSION For IP patients with de novo mutation or without family genetic samples, PGT with LRS can directly construct the SNP-based haplotype while avoiding interference from pseudogenes, providing an effective strategy for PGT.
Female ; Humans ; Male ; Pregnancy ; Genetic Testing/methods* ; Haplotypes/genetics* ; High-Throughput Nucleotide Sequencing/methods* ; I-kappa B Kinase/genetics* ; Incontinentia Pigmenti/diagnosis* ; Polymorphism, Single Nucleotide/genetics* ; Preimplantation Diagnosis/methods* ; Infant, Newborn

Objective:To investigate the application value of needle-knife accurate fistulo-tomy (NKAF) for difficult biliary cannulation during endoscopic retrograde cholangiopancreato-graphy (ERCP).Methods:The retrospective and descriptive study was conducted. The clinicopatho-logical data of 137 patients with difficult biliary cannulation during ERCP at Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine between January 2021 and December 2022 were collected. There were 51 males and 86 females, aged (69±13)years. All 137 patients received NKAF for cannulation during ERCP. Observation indicators: (1) surgical situations; (2) complications. Measurement data with normal distribution were represented as Mean± SD. Count data were repre-sented as absolute numbers. Results:(1) Surgical situations. Of 137 patients, 136 cases had succe-ssful cannulation, 1 case had failed cannulation with NKAF following unsuccessful double-guidewire technique. In the 136 successful cases, the endoscope was straightened in 42 cases, left in a long position in 37 cases, and maintained in the standard position in 57 cases. The cannulation time was (90±8)s. (2) Complications. The serum amylase at postoperative 6 hours in the 136 successful cases was (163±23)U/L. No patient developed post-ERCP pancreatitis. Of the 136 patients with successful cannulation, one case experienced post-sphincterotomy bleeding, which was observed oozing from the papillary orifice on emergency gastroscopy. The patient was successfully controlled with endoscopic clips.Conclusion:NKAF is safe and effective for difficult biliary cannulation during ERCP.

Objective:To investigate the predictive value of transabdominal uterine electromyography for pre-term labor after tocolysis in women with threatened preterm labor.Methods:A total of 48 pregnant women at 28-34 weeks of gestation diagnosed with threatened preterm labor and admitted to The Fourth Affiliated Hospital of Soo-chow University from January to September 2023 were included.According to the response to tocolysis and whether the pregnancy was prolonged for at least 48 h,women were divided into two groups:non-preterm birth within 48 h(n=35)and preterm birth within 48 h(n=13).Uterine electromyography parameters and difference were compared before and after tocolytic therapy in two groups.Univariate Logistic regression was performed to predict the related factors of preterm birth within 48 h after the using of tocolysis in pregnant women with threat-ened preterm birth by uterine electromyography,and receiver operating characteristic(ROC)curve was per-formed to evaluate their performance.Results:Compared to before treatment with tocolysis,after therapy,in the non-preterm birth within 48 h group,significant reductions in contraction frequency,area,duration and amplitude were observed(P<0.05).In the preterm birth within 48 h group,only contraction frequency decreased significant-ly(P<0.05).Univariate Logistic regression indicated that contraction frequency,contraction duration,and contrac-tion area were predictive factors for premature birth within 48 h after tocolysis(P<0.05).When the duration of u-terine contractions lasting for 104.55 s or more the sensitivity and specificity of predicting premature birth within 48 h are 92.3％and 68.6％,respectively.Conclusions:Uterine electromyography may predict the premature birth within 48 h after tocolytic treatment in preterm labor,which may provide reference for subsequent corticosteroid therapy or transfer of high-risk pregnant patients.

Objective:To investigate the predictive value of transabdominal uterine electromyography for pre-term labor after tocolysis in women with threatened preterm labor.Methods:A total of 48 pregnant women at 28-34 weeks of gestation diagnosed with threatened preterm labor and admitted to The Fourth Affiliated Hospital of Soo-chow University from January to September 2023 were included.According to the response to tocolysis and whether the pregnancy was prolonged for at least 48 h,women were divided into two groups:non-preterm birth within 48 h(n=35)and preterm birth within 48 h(n=13).Uterine electromyography parameters and difference were compared before and after tocolytic therapy in two groups.Univariate Logistic regression was performed to predict the related factors of preterm birth within 48 h after the using of tocolysis in pregnant women with threat-ened preterm birth by uterine electromyography,and receiver operating characteristic(ROC)curve was per-formed to evaluate their performance.Results:Compared to before treatment with tocolysis,after therapy,in the non-preterm birth within 48 h group,significant reductions in contraction frequency,area,duration and amplitude were observed(P<0.05).In the preterm birth within 48 h group,only contraction frequency decreased significant-ly(P<0.05).Univariate Logistic regression indicated that contraction frequency,contraction duration,and contrac-tion area were predictive factors for premature birth within 48 h after tocolysis(P<0.05).When the duration of u-terine contractions lasting for 104.55 s or more the sensitivity and specificity of predicting premature birth within 48 h are 92.3％and 68.6％,respectively.Conclusions:Uterine electromyography may predict the premature birth within 48 h after tocolytic treatment in preterm labor,which may provide reference for subsequent corticosteroid therapy or transfer of high-risk pregnant patients.

Objective:To investigate the application value of needle-knife accurate fistulo-tomy (NKAF) for difficult biliary cannulation during endoscopic retrograde cholangiopancreato-graphy (ERCP).Methods:The retrospective and descriptive study was conducted. The clinicopatho-logical data of 137 patients with difficult biliary cannulation during ERCP at Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine between January 2021 and December 2022 were collected. There were 51 males and 86 females, aged (69±13)years. All 137 patients received NKAF for cannulation during ERCP. Observation indicators: (1) surgical situations; (2) complications. Measurement data with normal distribution were represented as Mean± SD. Count data were repre-sented as absolute numbers. Results:(1) Surgical situations. Of 137 patients, 136 cases had succe-ssful cannulation, 1 case had failed cannulation with NKAF following unsuccessful double-guidewire technique. In the 136 successful cases, the endoscope was straightened in 42 cases, left in a long position in 37 cases, and maintained in the standard position in 57 cases. The cannulation time was (90±8)s. (2) Complications. The serum amylase at postoperative 6 hours in the 136 successful cases was (163±23)U/L. No patient developed post-ERCP pancreatitis. Of the 136 patients with successful cannulation, one case experienced post-sphincterotomy bleeding, which was observed oozing from the papillary orifice on emergency gastroscopy. The patient was successfully controlled with endoscopic clips.Conclusion:NKAF is safe and effective for difficult biliary cannulation during ERCP.

Objective:To provide preimplantation genetic testing (PGT) for a patient with Incontinentia pigmenti (IP) due to IKBKG gene variant but without family samples through construction of single nucleotide polymorphism (SNP)-based haplotype by Long-read sequencing (LRS) technology. Methods:A female IP patient with a heterozygous IKBKG c. 1167dup variant but without family genetic data who sought genetic counseling at Women and Children′s Hospital of Ningbo University in November 2021 was selected as the study subject. The IKBKG gene has a highly homologous pseudogene IKBKGP1. Genomic DNA was extracted from peripheral blood samples from the couple, and LRS was used to obtain informative SNP loci flanking the variant locus, enabling the construction of SNP haplotype with a long segment spanning from the non-homologous region of IKBKG to the variant site. Trophoblast cells were biopsied from blastocysts fertilized through intracytoplasmic sperm injection, and next-generation sequencing (NGS) was used to determine the SNP information of the embryos. Linkage analysis with the parental SNP haplotypes was conducted to detect the carrier status of the embryos and exclude chromosomal aneuploidies. Sanger sequencing was carried out to validate the result. A euploid embryo without the pathogenic variant was selected for transfer. Prenatal diagnosis was carried out by amniocentesis at mid-trimester to verify the result of PGT, and follow-up was conducted after the baby was born. This study has been approved by the Ethics Committee of the Women and Children′s Hospital of Ningbo University (Ethics No. EC2023-094). Results:In total seven blastocysts were tested, and PGT results indicated that two embryos were euploid and did not carry the pathogenic variant. One euploid embryo was transferred, which resulted in a singleton pregnancy. Amniocentesis at 24 weeks of gestation confirmed that the status of fetal IKBKG gene, and its chromosomal status was consistent with the PGT results. A healthy male infant was born at 38 + 6 weeks of gestation. Conclusion:For IP patients with de novo mutation or without family samples, PGT with LRS can directly construct the SNP-based haplotype while avoiding interference from pseudogenes, providing an effective strategy for PGT.

Objective To apply network Meta-analysis to evaluate the clinical efficacy of 3 classical prescriptions Xuebijing,Xijiao Dihuang decoction,and Qingyuan Shenghua decoction in treating sepsis complicated with coagulation dysfunction.Methods Computer-based searches were conducted in the following databases:China National Knowledge Infrastructure(CNKI),VIP Database,Wanfang Database,PubMed Database,and the Cochrane Library,to retrieve randomized controlled trial(RCT)on the treatment of sepsis complicated with coagulation dysfunction and disseminated intravascular coagulation(DIC)using 3 classical prescriptions-Xuebijing,Xijiao Dihuang decoction,and Qingyuan Shenghua decoction.The search period was from database inception to May 1,2023.The control group received conventional Western medicine treatment alone,while the treatment group received additional therapy with Xuebijing,Xijiao Dihuang decoction,or Qingyuan Shenghua decoction.Primary outcome measures included the sequential organ failure assessment(SOFA)score,acute physiology and chronic health evaluationⅡ(APACHEⅡ)score,activated partial thromboplastin time(APTT),D-dimer,fibrinogen(Fib),prothrombin time(PT)and platelet count(PLT).Two researchers evaluated and screened the included studies,performed data extraction,and assessed literature quality.The network Meta-analysis was conducted using Stata 17.0 software.Results A total of 27 RCTs were finally included,with 2268 cases enrolled.The network Meta-analysis results showed that the surface under the cumulative ranking curve(SUCRA):①In terms of improving APACHEⅡscores:Qingyuan Shenghua decoction combination group(93.2%)>Xuebijing combination group(67.9%)>Xijiao Dihuang decoction combination group(37.5%)>conventional Western medicine treatment alone group(1.4%);②In terms of improving SOFA scores:Qingyuan Shenghua decoction combination group(93.7%)>Xuebijing combination group(63.0%)>Xijiao Dihuang decoction combination group(41.8%)>conventional Western medicine treatment alone group(1.5%);③In terms of improving APTT:Qingyuan Shenghua decoction combination group(95.6%)>Xijiao Dihuang decoction combination group(57.1%)>Xuebijing combination group(46.6%)>conventional Western medicine treatment alone group(0.7%);④In terms of improving D-dimer:Xijiao Dihuang decoction combination group(86.1%)>Qingyuan Shenghua decoction combination group(80.5%)>Xuebijing combination group(33.3%)>conventional Western medicine treatment alone group(0.0%);⑤In terms of improving Fib:Xijiao Dihuang decoction combination group(97.5%)>Qingyuan Shenghua decoction combination group(63.5%)>conventional Western medicine treatment alone group(37.8%)>Xuebijing combination group(1.2%);⑥In terms of shortening PT:Qingyuan Shenghua decoction combination group(67.5%)>Xuebijing combination group(67.4%)>Xijiao Dihuang decoction combination group(63.0%)>conventional Western medicine treatment alone group(2.2%);⑦In terms of improving PLT:Xuebijing combination group(83.6%)>Qingyuan Shenghua decoction combination group(54.9%)>Xijiao Dihuang decoction combination group(49.4%)>conventional Western medicine treatment alone group(12.1%).Conclusion The 3 classical Chinese herbal prescriptions combined with conventional Western medicine all demonstrated significant improvement effects on sepsis complicated with coagulation dysfunction.Among them,Xuebijing showed the most stable clinical efficacy,improving both disease severity scores and multiple coagulation indicators.Qingyuan Shenghua decoction was more effective in improving overall prognosis compared to the other two prescriptions.As for Xijiao Dihuang decoction,its clinical efficacy in ameliorating sepsis-related thrombosis warrants further exploration.