Retrospective reviews and follow-ups of 41 children after heart transplantation / 中华器官移植杂志

Objective:To explore the risk factors and follow-up outcomes of pediatric heart transplantation(HT).Methods:Between January 2018 and June 2022, perioperative data are retrospectively reviewed for 41 pediatric HT recipients aged <18 years and donor-recipient weight data for infants aged under 3 years at Guangdong Provincial People's Hospital.Perioperative survivors are followed up until August 31, 2022 through out patient visits and telephone calls.Postoperative survivals are examined by Kaplan-Meier method and possible risk factors for perioperative survival identify with Logistic regression.Results:There are 22 boys and 19 girls with a median age of 120(58~138)months.After preoperative adjuvant therapy of extracorporeal membrane oxygenation(ECMO), 8 cases had a successful transition to HT and 2 children underwent ABO incompatible(ABOi)HT.Six children aged under 3 years had a donor-recipient weight ratio of 2.95.Among 17 children, there are one or more complications, including continuous renal replacement therapy(CRRT, 9 cases, 21.95%), tracheotomy (3 cases, 7.32%), delayed chest closure or redo of sternotomy(6 cases, 14.63%)and acute graft dysfunction(4 cases, 9.76%). Five children died during perioperative period.The possible risk factors for perioperative mortality include preoperative ECMO assistance[ HR: 32.00, 95% CI: (2.83~361.79), P<0.05], preoperative CRRT[ HR: 11.33, 95% CI: (1.15~111.69), P<0.05] and total bilirubin [ HR: 1.02, 95% CI: (1.002~1.040), P<0.05]. During follow-ups, one child died from Epstein-Barr virus (EBV)associated post-transplant lymphoproliferative disease; another case of EBV-associated hepatic leiomyoma underwent transcatheter arterial embolization.With an overall survival rate of 85.37%, the cumulative survival rate is 96.97% for children without preoperative ECMO assistance( P<0.05). Postoperative mortality rate spiked markedly in children with preoperative ECMO assistance ( P=0.0013). However, follow-up results of perioperatively survivors indicate that preoperative usage of ECMO will not affect follow-up survival( P=0.53). In ABOi group or infants aged under 3 years, no mortality occurres postoperatively or during follow-ups. Conclusions:In infant aged under 3 years, the strategies of ABOi HT and large-weight donor HT are both safe and effective and it has no effect upon perioperative and follow-up survivals.Preoperative ECMO assistance, total bilirubin and preoperative use of CRRT are risk factors for perioperative survival.

Genetic and clinical analysis of a pedigree affected with X-linked dominant Alport syndrome due to a novel variant of COL4A5 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with X-linked hereditary Alport syndrome.@*METHODS@#Next generation sequencing was carried out for the pedigree. Candidate variant was validated by Sanger sequencing. Pathological changes of renal basement membrane and expression of COL4A5 protein were analyzed by renal biopsy and immunofluorescence assay, respectively.@*RESULTS@#All patients from the pedigree manifested progressive renal damage, gross hematuria, proteinuria and nephrotic syndrome. Renal biopsy of the proband revealed thickening of the basement membrane. No expression of the COL4A5 gene was detected by immunofluorescence. High-throughput sequencing and Sanger sequencing indicated that the proband has carried a c.3706delC (p.1236Pfs*69) variant in exon 41 of the COL4A5 gene. The same variant was also found in his mother and two brothers whom were similarly affected.@*CONCLUSION@#The novel c.3706delC (p.1236Pfs*69) variant of the COL4A5 gene probably underlay the pathogenesis of X-linked hereditary Alport syndrome in this pedigree. Above findings have enriched the spectrum of COL4A5 gene variants and provided a basis for the diagnosis and genetic counseling for the pedigree.

Analysis of ADAR1 gene variants in two pedigrees affected with dyschromatosis symmetrica hereditaria / 中华医学遗传学杂志

OBJECTIVE@#To detect variants of ADAR1 gene in two Chinese pedigrees affected with dyschromatosis symmetrica hereditaria (DSH).@*METHODS@#Clinical data and peripheral blood samples of the pedigrees were collected. All exons of the ADAR1 gene were amplified by PCR and subjected to Sanger sequencing. Suspected pathogenic variants were validated among other members of the pedigrees and 100 unrelated healthy controls.@*RESULTS@#For pedigree 1, Sanger sequencing has identified a heterozygous missense variant c.3002G>C (p.Asp968His) in exon 11 of the ADAR1 gene in the proband and his father. For pedigree 2, a novel nonsense variant c.3145C>T (p.Gln1049Ter) was identified in exon 12 of the ADAR1 gene in the proband and his son, which were previously unreported and absent among the healthy controls.@*CONCLUSION@#The c.3002G>C (p.Asp968His) and c.3145C>T (p.Gln1049Ter)variants of the ADAR1 gene probably underlay the DSH in the two pedigrees.

Identification of pathological variants of SLC12A3 gene in a pedigree affected with Gitelman syndrome / 中华医学遗传学杂志

OBJECTIVE@#To detect pathological variants of the SLC12A3 gene in a Chinese pedigree affected with Gitelman syndrome (GS).@*METHODS@#Clinical data and peripheral blood samples of the proband and his family members were collected. All exons of the SLC12A3 gene were amplified by PCR and subjected to Sanger sequencing.@*RESULTS@#Sanger sequencing has revealed that the proband has carried a c.486_489 delTACG (p.Ile162Met fs*8) deletion and a heterozygous c.2890C>T (p.Arg964Trp) missense variant in the SLC12A3 gene. Neither variant was reported previously and was not found among healthy controls.@*CONCLUSION@#The c.486_489delTACG (p.Ile162Met fs*8) and c.2890C>T (p.Arg964Trp) variants of the SLC12A3 gene probably underlay the GS in the proband. Above discovery has enriched the variant spectrum of GS.

Intrahepatic cholestasis of pregnancy and fetal cardiac damage / 中华围产医学杂志

The risk of intrauterine death increases significantly in women with severe intrahepatic cholestasis of pregnancy. Fetal cardiac factors are considered to be possible important causes. However, the mechanisms of intrahepatic cholestasis of pregnancy causing fetal cardiac damage are still unclear. The possible mechanisms focus on the theories of acute hypoxia of the placenta and the toxic effects of bile acids. In this paper we summarize the studies on fetal heart damage caused by intrahepatic cholestasis of pregnancy, with a view to raising awareness of this disease.

Surgical treatment of thoracic aortic graft infection / 中华胸心血管外科杂志

Aortic graft infections(AGI) are uncommon complications of aortic surgery, although they carry a high mortality. Due to its special anatomical location, the thoracic aorta has less surrounding covered tissue. Once the graft infection occurs, the condition is often more dangerous. Therefore, the treatment of AGI of thoracic aorta is particularly important. This article reviews the surgical treatment of thoracic aorta graft infections.

Early and mid-term results of type Ⅱ hybrid arch repair with zone 0 stent graft deployment for acute type A aortic dissection / 中华胸心血管外科杂志

Objective:By analyzing the early- and mid-term clinical results of type Ⅱ hybrid aortic arch repair(HAAR) for the treatment of acute type A aortic dissection(ATAAD), the efficacy of hybridization technique in the application of acute type A aortic dissection was evaluated systematically.Methods:We retrospectively studied the records of patients with ATAAD who were admitted to the Beijing Fuwai Hospital between January 2016 and December 2018. 504 patients were included for analysis , 383 men and 121 women, mean age(50.0±11.7) years, the rate of hypertension was 79.6%, the average time of onset to operation was(69.5±40.0) hours. During this period, 110 continuous patients underwent hybrid aortic arch repair(HAAR) without deep hypothermic circulatory arrest, the landing zone of stent was located in ascending aorta(zone 0); 394 consecutive patients with ATAAD involving the aortic arch received traditional total aortic arch replacement with frozen elephant trunk(FET). A propensity score-matching analysis was applied to adjust for age and gender.The preoperative, perioperative and postoperative data in the HAAR group and FET group were compared.Results:For all 504 patients , male patients accounted for 75.9%. There were 24 cases of early death(4.8%), 20 cases of stroke(4.0%) and 7 cases of paralysis(1.4%). HAAR group showed more age[(62.1±6.8) years vs (46.6±10.4) years, P<0.001)], hypertension(87.3% vs 77.4%, P=0.033), coronary artery disease(13.6% vs 6.1%, P=0.016) and chronic obstructive pulmonary diseases(12.7% vs 3.6%, P=0.001) than the FET group. HAAR group showed shorter cardiopulmonary bypass time[(143.7±53.7) min vs (175.3±52.7) min, P<0.001] and aortic cross-clamping time[(78.5±33.6) min vs (106.9±37.8) min, P<0.001] than the FET group. Between the two groups there was no significant difference in operative mortality, rate of reoperation, and late mortality. Follow-up period ranged from 2 to 43 months, averaged(22.6±11.1) months. During folloe-up period , there were 5 cases of death(4.9%) and 3 cases of reoperation(3.1%) in HAAR group, 10 cases of death(2.7%) and 11 cases of reoperation(3.3%) in FET group. 3 patients lost follow-up because of not been rechecked in the outpatient department or the phone was not connected. Conclusion:This single -stage hybrid arch procedure offers an alternative approach to acute type A dissection and associated with acceptable early and midterm major morbidity and mortality in old-age patients. Future further researches are required to confirm the long-term outcomes.

Clinical effects of type Ⅱ hybrid aortic arch repair for type A aortic dissection in elderly and non-elderly patients / 中国胸心血管外科临床杂志

@#Objective    To discuss the efficacy of type Ⅱ hybrid aortic arch repair for type A aortic dissection in patients of different age groups. Methods    We retrospectively analyzed the clinical data of 126 patients with type A aortic dissection admitted to the Fuwai Hospital between January 2016 and December 2018, including 78 (61.9%) males and 48 (38.1%) females, with an average age of 61.8±6.9 years. The patients were divided into an elderly group (≥60 years, n=82) and a non-elderly group (<60 years, n=44). The preoperative, intraoperative and postoperative data of patients in the two groups were compared. Results    The age between the elderly and non-elderly group was significantly different (65.9±4.1 years vs. 54.3±4.1 years, P<0.010), and no significant difference was found between the two groups in other preoperative baseline data. There were 6 (4.8%) patients of early death, 3 (2.4%) patients of stroke and 2 (1.6%) patients of paralysis. A total of 194 stents were implanted, and the average dimeter of the stents was 33.6±1.8 mm and the average length was 199.0±6.7 mm. The non-elderly group had shorter mechanical ventilation time (31.9±41.7 h vs. 61.0±89.2 h, P=0.043) and ICU stay time (77.8±51.4 h vs. 143.1±114.4 h, P<0.001) than the elderly group. There was no significant difference in in-hospital mortality rate, reoperation rate or survival rate between the two groups (P>0.05). Follow-up time was 1-43 (22.6±10.8) months, and 3 patients were lost. There were 104 (82.5%) patients of complete thrombus formation of false lumen in stent and endoleak was reported in 11 (9.2%) patients. Conclusion    Type Ⅱ hybrid aortic arch repair offers an alternative approach to acute type A aortic dissection with acceptable early and mid-term clinical effects. The non-elderly patients have a similar early treatment effect to the elderly patients, but have a better mid-term outcome.

Advances in the pathogenesis of aortic dissection / 中国胸心血管外科临床杂志

@#Aortic dissection is a catastrophic emergency with a high mortality rate, and its full pathogenesis remains unknown to researchers, which brings a heavy burden to the individuals, society and family because of its poor prognosis. Improving the efficiency of its diagnosis and treatment and defining the pathogenic mechanism clearly is a research hotspot. Recently, utilizing bioinformatics to find diagnostic biomarker of aortic dissection has attracted the attention of many researchers. Besides, exploring the relationship between pathogenic mechanism and inflammatory process, extracellular matrix degradation, elastic fiber fracture and the phenotypic transformation of vascular smooth muscle cells is also a hot topic. We summarize recent progress made in the pathogenesis of aortic dissection. We hope to identify key molecules driving aortic dissection and provide reliable reference for the diagnosis, medical treatment and prevention of aortic dissection.

Study on periodic changes in onset of aortic dissection / 中华心血管病杂志

Objective@#To investigate theperiodic changes in onset of aortic dissection.@*Methods@#The clinical data of 1 121 patients with acute aortic dissection from Hebei province, treated at Fuwai hospital from January 1, 2010 to December 31, 2016, were collected and analyzed retrospectively. The regularity for the onset of aortic dissection was analyzed according to daytime (1:00 to 6:00, 7:00 to 12:00, 13:00 to 18:00, and 19:00 to 24:00), weekday, month, and quarter. Meanwhile,the differences in various type of aortic dissection patient were also compared.@*Results@#The patients were (51.4±12.0) years old,77.88% (873 cases)were male and 69.05% (774 cases) were type A aortic dissection.The peak period for the onset of the disease in a day was from 13:00 to 18:00 (401 cases. 35.77%),and disease onset was less frequent from 1:00 to 6:00 (196 cases, 17.48%).The peak weekday of disease onset was Monday (173 cases, 15.43%) , and disease onset was less frequent on Friday (153 cases, 13.65%) . The peak month of disease onset was January (135 cases, 12.04%), and disease onset was less frequent in July(54 cases, 4.82%). The peak season of disease onset was winter (349 cases, 31.13%), and disease onset was less frequent in summer (184 cases, 16.41%). Number of disease onset was similar between ≥65 years old and<65 years old groups, with or without hypertension groups, with or without Marfan syndrome groups at different periods of a day, each weekday, and seasons(all P>0.05).@*Conclusion@#There are periodic changes in the onset of acute aortic dissection,which is higher in winter than in summer, higher in the afternoon than in the morning.