Objective To summarize our experience and the early and midterm outcomes of stented elephant trunk procedure for right-sided aortic arch (RAA) with Kommerell's diverticulum (KD). Methods From April 2013 to July 2020, patients with RAA and KD who underwent stented elephant trunk procedure at our center were collected. Surgery was performed under moderate hypothermic circulatory arrest combined with selective antegrade cerebral perfusion via median sternotomy. Results A total of 8 patients were included, including 7 males and 1 female with a mean age of 51.88±9.61 years. All patients had an aneurysmal KD and aberrant left subclavian artery. Preoperative comorbidities included acute Stanford type B aortic dissection in 1 patient, aortic arch pseudoaneurysm in 1 patient, acute type B intramural hematoma in 2 patients, and coronary artery disease in 1 patient. Concomitant procedures included reconstruction of the left subclavian artery in all patients and coronary artery bypass grafting in 1 patient. The mean time of operation, cardiopulmonary bypass, aortic cross-clamping, and selective cerebral perfusion was 6.25±1.16 h, 157.75±40.07 min, 77.75±33.10 min, and 28.50±5.55 min, respectively. No intraoperative death occurred. There was 1 in-hospital death. Follow-up was completed in all patients with a mean period of 3.58±2.08 years. No late death occurred. A persistent anastomotic leak of the proximal arch was detected in 1 patient, but reintervention was not performed because neither aortic dilatation nor symptoms of tracheal and esophageal compression were observed during the follow-up. The remaining 6 patients showed positive aortic remodeling with complete thrombosis of the aneurysmal KD, and neither aortic event nor tracheal and esophageal compression occurred. Conclusion Stented elephant trunk procedure is a safe and feasible technique for selected patients with RAA and KD, which can achieve favorable early and midterm outcomes.

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 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.

OBJECTIVE: To carry out genetic testing and prenatal diagnosis for a Chinese pedigree with Lesch-Nyhan syndrome (LNS) but no specimen from the affected probands. METHODS: All affected individuals in this pedigrees were male and had deceased during childhood, with no biological specimen left. Based on their typical neurological dysfunction and tendency for self-mutilation, the diagnosis of LNS was suspected. Sanger sequencing was carried out to detect potential variant of the HPRT1 gene among female members from the pedigree. Following the identification of the pathogenic variant, prenatal diagnosis was provided for a high-risk fetus. RESULTS: The proband's mother and three other females were found to harbor heterozygous c.500_501delGGinsC (p.Arg167fs*23) variant of the HPRT1 gene, which was unreported previously. Prenatal diagnosis showed that the fetus was a male and had inherited the same pathogenic variant. CONCLUSION The c.500_501delGGinsC variant of the HPRT1 gene probably underlay the LNS in this pedigree. Above finding has provided a basis for prenatal diagnosis and genetic counseling for this pedigree.
Male ; Female ; Humans ; Pregnancy ; Lesch-Nyhan Syndrome/genetics* ; Pedigree ; Hypoxanthine Phosphoribosyltransferase/genetics* ; Prenatal Diagnosis ; China ; Mutation

Objective:To analyze the long-term outcomes of hybrid arch repair(HAR) treating aortic arch pathologies.Methods:Between January 2009 and January 2018, 87 consecutive patients underwent HAR for aortic arch pathologies at Beijing Anzhen Hospital. 76 were males. 2 cases were in zone 0, 46 cases were in zone 1, and 39 cases were in zone 2. The zones of the aortic arch were defined following the Ishimaru classification.Results:Five(5.7%) operative death occurred. 13 patients(19.1%) died during the follow-up. The overall survival rate was 88.4%, 83.3%, 83.3%, 49.8% at 1, 3, 5, 10 year, respectively. Multivariate Cox proportional risk analysis showed that stroke( HR=20.626, 95% CI: 2.698-157.685, P=0.004) was an independent risk factor for short-term death. Stroke( HR=16.234, 95% CI: 4.103-64.229, P<0.001) and spinal cord infury( HR=11.060, 95% CI: 2.150-56.893, P=0.004) were independent risk factors for long-term death. Conclusion:In conclusion, HAR could be an alternative procedure for the patients that are not suitable for open repair under the premise of strict control of indications. In the future, the risk assessment system and uniform operational indications for HAR should be further established.

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with autosomal dominant late-onset non-syndromic hearing loss (NSHL). METHODS: Clinical data of the pedigree were collected. Genomic DNA was extracted from peripheral blood samples of the proband and other family members. Trio whole exome sequencing was carried out for 19 396 genes to identify potential pathogenic variants. Sanger sequencing was carried out to verify the candidate variant in the pedigree. RESULTS: The proband and his father were found to carry a c.1183+1delG p.? variant of the DFNA5 gene. The variant was confirmed to be co-segregating with the disease phenotype in the pedigree. CONCLUSION The c.1183+1delG p.? variant of the DFNA5 gene probably underlay the late onset NSHL in this pedigree. Above finding has enabled accurate genetic counseling for this pedigree.
Age of Onset ; China ; Hearing Loss, Sensorineural/genetics* ; Humans ; Male ; Mutation ; Pedigree ; Receptors, Estrogen/genetics*

The aortic dissection (AD) carries high mortality which increases by 1%-2% per hour after onset in untreated patients. Fifty percent of patients will die in 48 hours, and 70%-80% patients will die in 2 weeks without treatment. Moreover, acute AD during pregnancy is a rare and much catastrophic disease with high lethality for the mother and fetus simultaneously. At present, AD is so rare that most articles are mainly small cohort studies and case reports. Therefore, we reviewed literatures in order to provide clinical reference for the comprehensive treatment of AD.

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with split hand/foot malformation (SHFM). METHODS: Genomic DNA of the proband and other affected members was extracted from peripheral blood samples. Chromosomal microarray analysis was employed to detect genome-wide copy number variations (CNVs). RESULTS: A 400 kb microduplication was identified in the 10q24.31-q24.32 region among all affected individuals. The microduplication has involved four genes, namely LBX1, BTRC, POLL and DPCD, in addition with part of FBXW4 gene. CONCLUSION The 10q24.31-q24.32 microduplication has segregated with the disease phenotype in this pedigree and probably underlay the SHFM malformation in the patients.
Asian Continental Ancestry Group ; Chromosome Duplication ; Chromosomes, Human, Pair 10 ; genetics ; DNA Copy Number Variations ; Foot Deformities, Congenital ; genetics ; Genetic Testing ; Hand Deformities, Congenital ; genetics ; Humans ; Limb Deformities, Congenital ; genetics ; Pedigree

Objective    To analyze the protective mechanism of spinal cord ischemia-reperfusion injury mediated by N-methyl-D-aspartate (NMDA) receptor. Methods    A total of 42 SD rats were randomly assigned to 4 groups: a non-blocking group (n=6), a saline group (n=12), a NMDA receptor blocker K-1024 (25 mg/kg) group (n=12) and a voltage-gated Ca2+ channel blocker nimodipine (0.5 mg/kg) group (n=12). The medications were injected intraperitoneally 30 min before ischemia. The neural function was evaluated. The neuronal histologic change of spinal cord lumbar region, the release of neurotransmitter amino acids and expression of spinal cord neuronal nitric oxide synthase (nNOS) were compared. Results    At 8 h after reperfusion, the behavioral score of the K-1024 group was 2.00±0.00 points, which was statistically different from those of the saline group (5.83±0.41 points) and the nimodipine group (5.00±1.00 points, P<0.05). Compared with the saline group and nimodipine group, K-1024 group had more normal motor neurons (P<0.05). There was no significant difference in glutamic acid concentration in each group at 10 min after ischemia (P=0.731). The nNOS protein expression in the K-1024 group was significantly down-regulated compared with the saline group (P<0.01). After 8 h of reperfusion, the expression of nNOS protein in the K-1024 group was significantly up-regulated compared with the saline group (P<0.05). Conclusion    K-1024 plays a protective role in spinal cord ischemia by inhibiting NMDA receptor and down-regulating nNOS protein expression; during the reperfusion, K-1024 has a satisfactory protective effect on spinal cord function, structure and biological activity of nerve cells.