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 understand the basic situation of vaccination of medical staff engaged in infectious disease related work, analyze the influencing factors of vaccination, and provide reference for the vaccination of occupational population.Methods:A self-designed questionnaire was designed to investigate the staff engaged in infectious disease related work in the disease control and hospital systems of 11 cities in Zhejiang Province. The contents of the questionnaire included the basic information of the medical staff, the vaccination situation after work and its influencing factors and vaccination willingness. A total of 1 446 valid questionnaires were collected. Chi square test and multivariate logistic regression were used to analyze the influencing factors of whether or not they had been vaccinated with work-related vaccine after engaging in infectious disease-related work.Results:Of the respondemts, had been vaccinated with work-related vaccines after engaging in infectious diseases related work, and the vaccines with the highest coverage rate were hepatitis B vaccine, influenza vaccine, measles vaccine, etc. Work organization, position, unit level and working years related to pathogenic microorganism experiment are the influencing factors for medical personnel to vaccinate work-related vaccine after they are engaged in infectious disease related work; 90.04% of the respondents indicated that they would like to be vaccinated.Conclusions:The vaccination rate of work-related vaccine was low after the medical staff began to work on infectious diseases. The main influencing factors of whether the medical staff were vaccinated with work-related vaccine after they were engaged in the work-related vaccine of pathogenic microorganisms were the working organization, position, unit level and working years related to pathogenic microorganism experiment.

Congenital diaphragmatic hernia (CDH) is caused by unilateral or bilateral diaphragmatic hypoplasia allowing abdominal organs to move into the thoracic,resulting in a series of pathophysiological changes,high mortality and poor prognosis.Therefore,earlier diagnosis is conducive to prenatal intervention and postnatal treatment.At present,prenatal ultrasonography is the most common used examination for CDH due to its convenience and low cost.MRI is complementary to ultrasound examination as it can evaluate both pulmonary development and maturity.Fetal echocardiography is a newly developed method in recent years which helps to indicate the prognosis through observation of hemodynamics and pulmonary vessels development.

Objectives To investigate the recurrence risk factors and the protective factors of aortic dissection (AD) DeBakey type Ⅲ. Methods 43 patients with AD DeBakey type Ⅲ who were in Guangdong General Hospital from May 2014 to September 2014, were enrolled as the case group, while 27 volunteers exclude AD as the control group. Blood chemistries and other information obtained immediately after admissions , χ2 test or T test was used for univariate analysis of independent samples. Multivariate Logistic regression analysis was used to screen patients with recurrence risk factors or protective factors. Results The prevalence of hypertension (93.02%vs. 18.52%, P = 0.000) and proportion of smokers (34.88% vs. 11.11%, P = 0.027) were significantly higher in case group than control group. Logistic regression analysis showed that hypertension (OR=5.148, 95%CI= [2.209~13.058], P=0.001) and albumin level (OR=0.709, 95%CI = [0.541~0.929], P=0.013) were significantly associated with recurrence of aortic dissection DeBakey type Ⅲ. Conclusion Hypertension is an independent risk factor for recurrence of aortic dissection DeBakey type Ⅲ, and albumin level is a protective factor.

Objective To study the benefit of prophylactic antibiotics (PA) in totally percutaneous aortic endovascular repair (PEVAR) in the catheterization laboratory for reducing stent-graft infection and postimplantation syndrome (PIS). Methods The clinical data were analyzed of patients undergoing thoracic endovascular aortic repairs. The patients were divided into non-PA group and PA group according to the use of prophylactic antibiotics before PEVAR. The diagnosis of infection was made by two senior physicians with reference to Hospital Acquired Infection Diagnostic Criteria Assessment released by the Ministry of Health of China. Results The 95 enrolled patients included 35 with PA and 60 without PA group, who were comparable for baseline characteristics. Infection-related deaths occurred in 1 case in non-PA group and retrograde Stanford type A dissection and death occurred in 1 case in PA group (1.67%vs 2.85%, P=1.00). The PA and non-PA groups showed no significant difference in the incidence of postoperative infection (5%vs 2.86%, P=1.000), hospital stay (9.30±7.21 vs 10.06±5.69, P=0.094), infection-related mortality (1.67% vs 0%, P=1.00), or postoperative fever (70.90% vs 91.43%, P=0.20). The body temperature showed significant variations at different time points after procedure (F=19.831, P<0.001) irrelevant to the use of prophylactic antibiotics (F=0.978, P=0.326). Conclusion The current data do not support the benefit of PA in reducing postoperative infection and PIS in patients undergoing PEVAR, but the patients without PA may have worse clinical outcomes in the event of postoperative infections.

Objective To study the benefit of prophylactic antibiotics (PA) in totally percutaneous aortic endovascular repair (PEVAR) in the catheterization laboratory for reducing stent-graft infection and postimplantation syndrome (PIS). Methods The clinical data were analyzed of patients undergoing thoracic endovascular aortic repairs. The patients were divided into non-PA group and PA group according to the use of prophylactic antibiotics before PEVAR. The diagnosis of infection was made by two senior physicians with reference to Hospital Acquired Infection Diagnostic Criteria Assessment released by the Ministry of Health of China. Results The 95 enrolled patients included 35 with PA and 60 without PA group, who were comparable for baseline characteristics. Infection-related deaths occurred in 1 case in non-PA group and retrograde Stanford type A dissection and death occurred in 1 case in PA group (1.67%vs 2.85%, P=1.00). The PA and non-PA groups showed no significant difference in the incidence of postoperative infection (5%vs 2.86%, P=1.000), hospital stay (9.30±7.21 vs 10.06±5.69, P=0.094), infection-related mortality (1.67% vs 0%, P=1.00), or postoperative fever (70.90% vs 91.43%, P=0.20). The body temperature showed significant variations at different time points after procedure (F=19.831, P<0.001) irrelevant to the use of prophylactic antibiotics (F=0.978, P=0.326). Conclusion The current data do not support the benefit of PA in reducing postoperative infection and PIS in patients undergoing PEVAR, but the patients without PA may have worse clinical outcomes in the event of postoperative infections.

BACKGROUNDThoracic endovascular aortic repair (TEVAR) is an emerging treatment modality, which has been rapidly embraced by clinicians treating thoracic aortic disease. However, the clinical manifestations of systemic inflammatory response after TEVAR as post-implantation syndrome (PIS) resemble the perioperative infection. This study aimed to evaluate changes and diagnostic value of procalcitonin (PCT) and other traditional inflammatory markers for infections after TEVAR.

METHODSWe conducted a prospective clinical study that enrolled 162 consecutive aortic dissection cases, who underwent TEVAR in our institution between July 2011 and November 2012. The PCT, C-response protein (CRP), erythrocyte sedimentation rate (ESR) and blood routine examination were monitored before the operation and on days 1, 2, 3 and 5 after the operation. The diagnosis of infection was confirmed by the infection control committee with reference to Hospital Acquired Infection Diagnostic Criteria Assessment, released by the Ministry of Health of the People's Republic of China.

RESULTSPost endovascular repair of thoracic aorta, PCT changes significantly at different time points (χ(2) = 13.225, P = 0.021), without significant difference between the PIS group and the control group (0.24 ± 0.04 vs.0.26 ± 0.10, P = 0.804). PCT values were significantly higher in the first day after TEVAR than the preoperative levels (0.18 ± 0.03 vs. 0.11 ± 0.02, P < 0.001). Compared with PIS patients, the level of PCT, CRP, White blood cell (WBC) and neutrophil (NEU) in the infection patients elevated significantly (relatively χ(2) = 6.062, P = 0.048; χ(2) = 6.081, P = 0.048; χ(2) = 11.030, P = 0.004; χ(2) = 14.632, P = 0.001). According to the ROC analysis, the PCT levels in the first day after TEVAR (AUC = 0.785, P = 0.012) had better predictive values of infection than WBC, NEU CRP and ESR (AUC = 0.720, P = 0.040; AUC = 0.715, P = 0.045; AUC = 0.663, P = 0.274; AUC = 0.502, P = 0.991). The best predictive index was the changes of PCT between preoperative and postoperative (PCT), which possess AUC as 0.803 (P = 0.014). And PCT = 0.055 could be considered as an infection diagnosis cutoff value with a sensitivity of 83.3% and specificity 69.0%.

CONCLUSIONSPCT provides better diagnostic value of infection compared with other inflammatory markers. The potential applications of PCT in differential diagnosis of PIS and infection after percutaneous TEVAR deserve further studies.

Adult ; Aged ; Blood Sedimentation ; C-Reactive Protein ; metabolism ; Calcitonin ; metabolism ; Calcitonin Gene-Related Peptide ; Diagnosis, Differential ; Female ; Humans ; Male ; Middle Aged ; Prospective Studies ; Protein Precursors ; metabolism ; Vascular Surgical Procedures