The aortic dissection is a critical emergency in cardiovascular surgery and can be classified as Stanford type A and type B aortic dissection depending on whether the ascending aorta is involved. Currently, the mainstream treatment option for type A aortic dissection is open surgery, while type B dissection can be treated by interventional therapy, open surgery, or optimal medical therapy depending on the situation. However, regardless of the treatment option, it is difficult to resolve all the problems at once. As a result, residual aortic dissection is commonly found in patients with aortic dissection. This article will review the hot issues of aortic remodeling in terms of the definition, prognosis, and risk factors.

Objective To explore the value of chromosomal microarray analysis(CMA)for the diagnosis of early spontaneous abortion,and to investigate the relationship between chromosomal abnormalities and early spontaneous abortion.Methods A total of 432 cases embryos were collected from June 2017 to December 2022 which occur early spontaneous abortion in Yangzhou Maternal and Child Health Hospital.We retrospectively analyze the results of chromosomal microarray analysis,and analyze the correlation between different gestational weeks and numerical chromosomal abnormalities and copy number variations.Results A total of 428 specimens were successfully analyzed by the CMA.Chromosomal abnormalities were identified in 270 specimens,including 212 cases of numerical chromosomal abnormalities,53 cases of copy number variations,and 5 cases of uniparental disomy.Most chromosomal abnormalities are trisomies,with 16-trisomy was the most common.Among the copy number variations,31 cases of pathogenic and likely pathogenic were detected,and 22 cases of clinically unknown copy number abnormalities were detected.There was no statistically significant difference in numerical chromosomal abnormalities among different gestational weeks(P>0.05),while the positive rate of copy number variations was highest at 10-11+6 weeks of pregnancy.Conclusion CMA can clarify the etiological diagnosis of early spontaneous abortion.It can not only detect chromosomal abnormalities,but also can detect copy number variations and even chromosome microdeletion syndrome,chromosome microduplication syndrome.In the study,numerical chromosomal abnormalities are the main cause of spontaneous abortion.

Objective To investigate the incidence of neonatal hyperphenylalaninemia (HPA) and analyze the characteristics of HPA gene mutations in the Yangzhou area. Methods From January 2013 to December 2022, 285, 549 newborns in Yangzhou were screened for HPA using either the ninhydrin fluorescence method or tandem mass spectrometry. Urinary pterin analysis, erythrocyte dihydrobiopterin reductase activity measurement and genetic diagnosis were performed to screen positive individuals. Results A total of 29 cases were confirmed as HPA, including 3 cases of tetrahydrobiopterin (BH₄) deficiency and 26 cases of phenylalanine hydroxylase (PAH) deficiency. The overall incidence of HPA in Yangzhou was 1/9, 847, with the incidence of PAH deficiency being 1/10, 983, which were slightly higher than the national average but lower than other regions in Jiangsu Province. Among the cases, 13 (44.83%) were classic phenylketonuria (PKU), 7(24.14%) were mild PKU, and 6(20.69%) were mild HPA. Sixteen patients with PAH gene mutations were all compound heterozygotes, with one case exhibiting three-site mutations. PAH gene mutations were predominantly missense mutations, primarily concentrated in exon 7, followed by exon 6, with E7 c.728G>A (21.21%) being the most frequent mutation. Three cases of BH₄ deficiency were detected with PTS gene mutations, including 1 homozygous mutation and 2 compound heterozygous mutations. E5 c.259C>T was the high-frequency PTS mutation gene in Yangzhou. Conclusion HPA has a certain incidence in Yangzhou, with classic PKU being the predominant type. This study clarified the characteristics of PAH and PTS gene mutations in Yangzhou, enriching the HPA gene database.

Objective:To retrospectively analyze the gender differences in the clinical characteristics and perioperative outcomes of patients with type A aortic dissection in our institution.Methods:From January 2019 to January 2020, total 405 patients underwent surgical treatment for type A aortic dissection at Beijing Anzhen Hospital, including extensive aortic repair (total aortic arch replacement combined with stenting elephant trunk implantation) and limited aortic repair. In the entire cohort, male 295 cases, female 110 cases. All measures in this study were expressed as ± s or median(quartiles) and analyzed by Student t test for variables or non- parametric tests; count data were expressed as frequencies and percentages and analyzed by χ2 test and Fisher exact probability test. Independent risk factors were analyzed by logistic multivariate regression. Results:Females were older than males[(53.3 ± 12.4)years old vs. (47.1 ± 11.0)years old, P<0.001] and had significantly higher proportion of diabetes(9.1% vs. 4.1%, P=0.047) and previous cerebrovascular disease (11.8% vs. 5.8%, P=0.038). Females had a lower proportion of total aortic arch replacement combined with elephant trunk implantation (64.5% vs. 82.7%, P<0.001), while aortic cross-clamp time[168.0(144.8, 201.5) minutes vs. 190.0 (163.0, 217.0) minutes, P<0.001] and CPB time[99.0 (79.8, 118.0) min vs. 107.0 (91.0, 126.0) min, P=0.006] were significantly shorter than males. Females had significantly higher rates of pulmonary infection (14.5% vs. 5.8%, P=0.004) and stroke than males (15.5% vs. 8.1%, P=0.030). The difference in the proportion of postoperative deaths between female and male TAAD patients was not statistically significant (3.6% vs. 7.8%). Logistics multivariable regression analysis found that female was an independent risk factor for postoperative stroke ( OR=2.574, 95% CI: 1.198-5.531, P=0.015) and pulmonary infection ( OR=2.610, 95% CI: 1.180-5.772, P=0.018). Conclusion:Gender did not affect mortality after TAAD repair significantly, but females increased the risk of stroke and pulmonary infection after TAAD surgery.

Ovarian cancer ranks the third among gynecological malignancies, while its mortality rate is the highest. Even though recent treatment progress has been made after using PARP inhibitors, the prognosis is still poor. Anterior gradient protein 2 (AGR2) may be a marker for early diagnosis of ovarian cancer, and the expression of AGR2 suggests that the prognosis of ovarian cancer is better. However, Anterior gradient protein 3 (AGR3) could be used to differentiate high-grade and low-grade ovarian cancer, but its influence on prognosis is still controversial. AGR2 and AGR3 may be therapeutic targets for ovarian cancer. This article introduces the research progress of AGR2 and AGR3 in the diagnosis and treatment of ovarian cancer.

Objective To evaluate the efficacy and complications of component blood transfusion combined with recombinant activated factorⅦa(rFⅦa)in treatment of severe active hemorrhage after cardiac surgery??Methods Fifty patients who suffered from severe active hemorrhage after cardiac surgery were selected from the First Affiliated Hospital of Dalian Medical University from July 2015 to May 2017??All patients were divided into GR group ( component blood transfusion combined with rFⅦa) and GA group (component blood transfusion combined with tranexamic acid) by random number table method,25 cases in each group??The changes of disseminated intravascular coagulation (DIC) were screened on admission(D1), after cessation of cardiopulmonary bypass ( D2 ), and 2 h ( D3 ), 6 h ( D4 ) and 12 h ( D5 ) after medication??The difference of activated partial thromboplastin time (APTT), international normalized ratio (INR),fibrinogen,hemoglobin and platelet of the two groups at each time point of D1,D2,D3,D4 and D5 were analyzed??Meanwhile, the postoperative drainage, postoperative blood transfusion, postoperative plasma transfusion volume, postoperative mechanical ventilation time, ICU retention time, the 30 d mortality and complications were compared between the two groups??Results There were significant differences in APTT, INR,fibrinogen,hemoglobin and platelet between the two groups ( all P＜0??05)??There was no significant difference in the indices of DIC screening between the two groups at D1, D2 and D5 time points ( all P＞0??05),but at D3 time point,APTT in GR group was significantly shorter than that in GA group((50??3 ±6??6)s vs??(60??1±6??5)s,P＝0??027),and INR in GR group at D4 time point was also significantly lower ((1??3 ± 0??3) vs??( 1??5 ± 0??3), P＝0??041)??In addition, the amount of red blood cells transfusion after treatment in GR group and GA group (( 3??2± 1??0) U vs??(4??1 ± 1??0) U,P＝0??005),the amount of fresh plasma transfusion ((303??2±98??5) ml vs??(469??6± 190??5) ml,P＝0??000),the amount of 24 h drainage after operation ((519??9±107??5) ml vs??(657??2±100??1) ml, P＝0??000) were significantly decreased,the differences were statistically significant??Conclusion Blood component transfusion combined with rFⅦa can significantly improve APTT and INR of severe active hemorrhage after cardiac surgery,at the same time,it can reduce the amount of red blood cells transfusion and plasma transfusion??

To observe the efficacy and safety of apatinib in the treatment of advanced bone and soft tissue sarcoma, and to analyze the possible related factors affecting the progression-free survival (PFS) of patients. Methods: Twenty-one patients with ad-vanced bone and soft tissue sarcoma admitted to the Department of Orthopaedics, Yunnan Cancer Hospital from June 2017 to Sep-tember 2018, were treated with apatinib tablets. The main efficacy index was progression free survival (PFS), and the secondary effica-cy index was overall survival (OS). Clinical efficacy was evaluated according to response evaluation criteria in solid tumors (RECIST) 1.1, and overall response rate (ORR), disease control rate (DCR), and safety were olserved according to the National Cancer Institute (NCI) 4.0 standard. Results: All of the 21 patients were followed up. At the last follow-up time point, March 31st, 2019, there were no CR, 2 patients (9.5%) with PR, 7 patients with SD (33.3%), and 12 patients with PD (57.1%). The ORR was 9.5%, the DCR was 42.8%, the medi-an PFS was 8 months, and the median OS was 14 months. The patient's gender, age, ECOG score, tissue source, surgery, or chemother-apy had no statistically significant effect on PFS (P>0.05). Only the history of radiotherapy before taking apatinib was a factor for pa-tients with PFS. The effect was statistically significant (P<0.05), and patients with a history of radiotherapy had a lower PFS than pa-tients without a history of radiotherapy. The adverse reactions of gradeⅢand above had hand-foot syndrome (14.3%), pneumotho-rax (14.3%) and anemia (4.8%). Conclusions: Apatinib has a certain effect for advanced bone and soft tissue sarcoma. The adverse re-actions are generally predictable, controllable and reversible. Apatinib can be a choice for patients with advanced bone and soft tissue sarcoma with good treatment adherence and no other treatment options.

Objective To investigate the accuracy and reliability of white blood cell classifications in normal saline diluted jaundice specimen which could not be classified by blood cell analyzer. Methods Jaundice specimens which not be classified were equally diluted with normal saline and assessed in LH750. Differential count of white blood cells after dilution was compared with the result of original specimen using XN-1000 blood cell analyzer. The white blood cell classifications of diluted jaundice specimen and the original blood sample were analyzed. Results In jaundice specimens diluted by normal saline, when WBC ＜2. 0 ×109/L, minimum relative deviation was 0％ and the maximum was 9. 03％. When WBC＞2. 0xl09/L, minimum relative deviation was 0. 09％ and the maximum was 5. 21％. All the results met the requirements. Conclusion Equal dilution of normal saline could preliminarily solve the problem that white blood cells could not be classified in jaundice specimen.

Objective To detect the effect of low-dose heparin on endothelial function by detecting the change of yon Willebrand factor (vWF) in blood plasma of patients with sepsis shock after treatment with low-dose heparin in order to observe organ function and prognosis of patients.Methods A total of 118 patients with sepsis shock were randomized into low-dose heparin group and control group.In addition to the routine treatment,the patients in low-dose heparin group were given low-dose heparin,while those in control group were not.The levels of APTT,PT,platelet (PLT) count,hepatic function and renal function were determined before and after treatment in two groups,and hemorrhagic events or other complications were recorded.The lengths of stay in ICU and in hospital,the days of mechanical ventilation and the rates of acute respiratory distress syndrome (ARDS),disseminated intravascular coagulation (DIC) and multiple organ dysfunction syndrome (MODS) and 28-day survival rate in the two groups were documented.The levels of vWF in patients of two groups were determined by using immunoturbidimetry before and after treatment.Results The rates of DIC and MODS in low-dose heparin group decreased significantly after therapy (rate of DIC,10.6％ vs.26.7％,P ＜ 0.05;rate of MODS,19.3％ vs.32.0％,P ＜ 0.05).Hepatic function and renal function in low-dose heparin group were significantly improved than that in the control group (P ＜ 0.05),28-day survival rate in the low-dose heparin group was higher than that in the control group (78.3％ vs.69.1％,P ＜0.05),the differences between low-dose heparin group and control group were not statistically significant in the lengths of stay in ICU and hospital,the days of mechanical ventilation and the rate of ARDS (P ＞ 0.05).The differences in APTT,PT and PLT were not significant from pre-treatment to after treatment and between the two groups (P ＞ 0.05).The levels of vWF in low-dose heparin group decreased significantly after therapy rather than those in control group (P ＜ 0.05).Conclusions The endothelial function is improved in patients with sepsis shock after employment of lowdose heparin.Low-dose heparin alleviates the interaction between coagulation and inflammation,improves hepatic,renal and other important organs function,decreases the rate of MODS and increases 28-day survival rate patients with sepsis.The low-dose heparin therapy is a safe and promising treatment in sepsis patients without severe side effects.

Objective To investigate gene mutations in a pedigree with oculocutaneous albinism by using targeted next-generation sequencing technology.Methods Clinical data were collected from a pedigree with oculocutaneous albinism.Genomic DNA was extracted from peripheral blood cells of the proband and his parents.High-throughput sequencing technology was used for sequence analysis of coding regions in exons of 29 genes including TYR,OCA2,TYRP1 and SLC45A2 in the proband to find potential pathogenic gene mutations.Sanger sequencing was conducted to detect the corresponding genetic loci in the parents.Results Two heterozygous mutations were identified in the TYR gene of the proband,including a novel mutation c.534G ＞ C (p.Trp178Cys) and a known mutation c.1147G ＞ A (p.Asp383Asn).The detection of the TYR gene mutations in the parents of the proband showed that the c.534G ＞ C and c.1147G ＞ A mutations in the proband were inherited from his father and mother respectively.Conclusion A novel pathogenic mutation c.534G ＞ C in the TYR gene is identified in the pedigree with oculocutaneous albinism by using targeted next-generation sequencing technology.