Objective:To investigate the feasibility and clinical outcome of estimating the target length of the free margin of the leaflet by diameter of the prosthesis graft used to reconstruct the aortic root during the modified root remodeling procedure.Methods:This is a retrospective case series study. The clinical data of 11 patients with aortic root aneurysm who underwent modified aortic root remodeling procedure with external sub-valvular ring from July 2021 to May 2024 at Department of Cardiovascular Surgery, Fuwai Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College were analyzed. The age of the patients was (42.3±14.4) years (range:23 to 61 years), including 9 males and 2 females. The aortic valve of all patients was tri-leaflet configuration. Marfan syndrome was diagnosed in 3 cases. The diameter of the prosthesis graft was determined according to the Lansac group′s criteria based on the diameter of the aortic annulus, and a graft ring of the same diameter was used as the external sub-valvular ring. The free margin of the leaflet was treated with central plication according to the standard of “target length of free margin of the leaflet=the diameter of the selected graft+3 to 5 mm”. The surgical results and postoperative aortic valve closure function were observed.Results:All 11 patients successfully completed the operation without in-hospital death or complications. The graft with a diameter of 28 mm were used in 7 cases, 26 mm in 3 cases, and 30 mm in 1 case. 4 patients required central plication of the free margin of 3 leaflets, 2 patients required treatment of 2 leaflets, 3 patients required treatment of 1 leaflet, and 2 patients did not need treatment of the free margin of the leaflets. The functional status of aortic valve closure was significantly improved in all patients after surgery, and the degree of residual aortic regurgitation was not more than mild. After reconstruction of the aortic root, the measured effective height was (8.8±1.3) mm (range:7 to 11 mm) and the measured coaptation length was (5.2±0.9) mm (range:4 to 7 mm). All patients were re-examined 3 months after surgery. Echocardiography showed that the degree of aortic regurgitation was mild or lower, and the left ventricular end-diastolic diameter was (49.4±6.1) mm (range: 36 to 56 mm), which was smaller than that before the operation ((58.5±7.0) mm (range: 47 to 72 mm)). Eight patients were followed up for more than 6 months, and 5 patients were followed up for more than 1 year. The degree of aortic regurgitation in these patients was mild or below.Conclusions:The method based on the diameter of the selected prosthesis graft to deal with the length of the free margin of the leaflet can be effectively used in the modified aortic root remodeling procedure with external sub-valvular ring. The early postoperative results are satisfactory .

Objective:To investigate the feasibility and clinical outcome of estimating the target length of the free margin of the leaflet by diameter of the prosthesis graft used to reconstruct the aortic root during the modified root remodeling procedure.Methods:This is a retrospective case series study. The clinical data of 11 patients with aortic root aneurysm who underwent modified aortic root remodeling procedure with external sub-valvular ring from July 2021 to May 2024 at Department of Cardiovascular Surgery, Fuwai Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College were analyzed. The age of the patients was (42.3±14.4) years (range:23 to 61 years), including 9 males and 2 females. The aortic valve of all patients was tri-leaflet configuration. Marfan syndrome was diagnosed in 3 cases. The diameter of the prosthesis graft was determined according to the Lansac group′s criteria based on the diameter of the aortic annulus, and a graft ring of the same diameter was used as the external sub-valvular ring. The free margin of the leaflet was treated with central plication according to the standard of “target length of free margin of the leaflet=the diameter of the selected graft+3 to 5 mm”. The surgical results and postoperative aortic valve closure function were observed.Results:All 11 patients successfully completed the operation without in-hospital death or complications. The graft with a diameter of 28 mm were used in 7 cases, 26 mm in 3 cases, and 30 mm in 1 case. 4 patients required central plication of the free margin of 3 leaflets, 2 patients required treatment of 2 leaflets, 3 patients required treatment of 1 leaflet, and 2 patients did not need treatment of the free margin of the leaflets. The functional status of aortic valve closure was significantly improved in all patients after surgery, and the degree of residual aortic regurgitation was not more than mild. After reconstruction of the aortic root, the measured effective height was (8.8±1.3) mm (range:7 to 11 mm) and the measured coaptation length was (5.2±0.9) mm (range:4 to 7 mm). All patients were re-examined 3 months after surgery. Echocardiography showed that the degree of aortic regurgitation was mild or lower, and the left ventricular end-diastolic diameter was (49.4±6.1) mm (range: 36 to 56 mm), which was smaller than that before the operation ((58.5±7.0) mm (range: 47 to 72 mm)). Eight patients were followed up for more than 6 months, and 5 patients were followed up for more than 1 year. The degree of aortic regurgitation in these patients was mild or below.Conclusions:The method based on the diameter of the selected prosthesis graft to deal with the length of the free margin of the leaflet can be effectively used in the modified aortic root remodeling procedure with external sub-valvular ring. The early postoperative results are satisfactory .

Objective To elucidate the influence of two procedures aortic root remodeling using a straight tubular artificial vessel while preserving the aortic valve and the Florida sleeve procedure on the biomechanics of the aortic root.Methods Five finite element models of the aortic root were reconstructed using computed tomography angiography images,including two cases of aortic root remodeling(A1 and A2),two cases of the Florida sleeve procedure(B1 and B2),and one control group without aortic root pathology(C).Numerical simulations were performed to obtain the blood flow and pressure distribution result to assess the differences in the hemodynamics of the aortic root.Results There were no significant differences in the peak systolic velocity between the two procedures and the control.However,the flow velocity after aortic root remodeling was smoother,similar to the model of the control group,with a more stable average aortic pressure and wall shear stress.In the Florida sleeve procedure,high-speed blood flow affected the vessel wall,leading to various degrees of wall shear stress and pressure concentrations along the aortic wall.Conclusions After aortic root replacement with valve preservation,blood flow patterns in the reconstructed aortic root depended on postoperative changes in sinus geometry.Both surgical procedures showed favorable blood flow patterns;however,the flow pattern after aortic root remodeling was more stable than that after the Florida sleeve procedure.

Objective:A residual false lumen progress risk prediction model was constructed based on computational fluid dynamics and biomechanical parameters were calculated to assess the factors affecting the long-term reintervention after the first operation.Methods:Patients with Stanford type A aortic dissection admitted to Fuwai hospital were retrospectively collected and divided into control group and thoracoabdominal aortic replacement group according to long-term prognosis or history of reintervention. The fluid parameters of the descending aorta were calculated based on the early CTA imaging data after first operation. The differences of parameters between the two groups were compared to explore the risk factors.Results:A total of 24 patients were included from January 2015 to May 2021. The average age was(47.88±9.84) years old, 21(87.5%) male, and 3 female. The balance position of luminal pressure difference in the descending aorta was closer to the opening of the left subclavicular artery[(22.00±3.91)cm vs.(36.00±1.77)cm, P<0.001], and the false lumen pressure was greater than the true lumen pressure in the thoracoabdominal aortic replacement group. Conclusion:The computational fluid dynamics method can simplify and visualize the complex human blood flow and postoperative structure based on the mathematical model. The lumen pressure balance point moving to the proximal are the risk factors for poor remodeling of the descending aorta and reintervention.

Objective:To evaluate the safety and effectiveness of adventitial inversion technique for root repair in patients with acute type A aortic dissection(ATAAD).Methods:Between 2015 and 2018, ATAAD patients with dissected root and underwent open surgery were included. The exclusion criteria were as follows: previous root intervention, traumatic dissection and patient underwent root replacement(Bentall or David procedure). 490 ATAAD patients were included, 366(74.69%) male and 124(25.31%) female, aged(51.28±10.99) years(range 24-77 years). The clinical data were retrospectively analyzed with ANOVA/ nonparametric test and Chi- square test. Follow-up mortality and reoperation were displayed with Kaplan- Meier curve. Results:All patients were technically divided into three groups: adventitial inversion(A), direct suture(B) and Cabrol-shunt(C). The mean age in group A was(53.05±11.09) years, whereas worse cardiac and renal function occurred in group C. The mean duration of HCA, CPB and ACC were shortest, with a highest average of minimum rectal temperature during surgical interval in group A. Postoperative complications and early mortality were similar among groups. There were no significant differences of mid-term mortality and reoperation among these three techniques. Though no late reintervention for aortic root was found in both group A and B, the root diameter was more stable in group A during follow-up period[(33.14±3.74)mm vs.(34.51±3.83)mm vs.(33.89±3.89)mm, P=0.008]. Conclusion:Adventitial inversion technique is safe and effective for root repair in patients with ATAAD, achieving satisfactory short- and mid-term effects.

Objective    To assess outcomes of transcatheter aortic valve replacement (TAVR) for pure native aortic valve regurgitation. Methods    A total of 129 patients underwent transfemoral TAVR in Fuwai Hospital from May 2019 to October 2020 were retrospectively analyzed. There were 83 males and 46 females with an average age of 72.26±8.97 years. The patients were divided into a pure native aortic valve regurgitation group (17 patients) and an aortic valve stenosis group (112 patients). Results    The incidence of valve in valve was higher in the pure native aortic valve regurgitation group (47.0% vs. 16.1%, P<0.01). There was no statistical difference between the two groups in conversion to surgery, intraoperative use of extracorporeal circulation, intraoperative left ventricular rupture, postoperative use of extracorporeal membrane oxygenation (ECMO), peripheral vascular complications, disabled stroke, death, or pacemaker implantation. There was no statistical difference in the diameter of annulus (25.75±2.21 mm vs. 24.70±2.90 mm, P=0.068) or diameter of outflow tract (25.82±3.75 mm vs. 25.37±3.92 mm, P=0.514) between the pure native aortic valve regurgitation group and the aortic valve stenosis group. Conclusion    Transfemoral TAVR is a feasible method for patients with pure native aortic valve regurgitation. The diameter of annulus plane, the diameter of outflow tract and the shape of outflow tract should be evaluated.

A 44-year-old pregnant woman (G5P3) who had delivered two children with DMD was admitted and underwent prenatal diagnosis at Peking Union Medical College Hospital in 2019. (1) The karyotype of the fetus in 2019 was 47,XXY. The fluorescence in situ hybridization (FISH) result showed a nucish(CSPX×2, CSPY×1)[100] and multiplex ligation-dependent probe amplification (MLPA) suggested sex chromosome abnormality. Based on the above results, the fetus was diagnosed with Klinefelter syndrome. Fetal short tandem repeat (STR) linkage analysis and Sanger sequencing indicated a heterozygous mutation of c.9543delG(p.Trp3181CysfsTer2). (2) Sanger sequencing of the proband found a novel frameshift mutation of c.9543delG(p.Trp3181CysfsTer2 ) in exon 65 of the DMD gene. (3) The male fetus performing prenatal diagnosis in 2008 was found to have the same maternal gene markers as the proband with the same genotype. While the genotype of the fetus in 2009 obtained a different maternal gene marker from the proband and did not detect the same DMD gene mutation. This fetus was delivered at full term and was good during follow-up. (4) The elder brother and cousin of the proband had the same frameshift mutation in exon 65 of the DMD gene as the proband. The mother of the proband was a heterozygous carrier of the mutation.

Objective:To evaluate the clinical effect of applying peroneal artery perforator flap with super-draining techniques in repairing skin defects of extremities.Methods:The data of patients with limb wounds admitted to the 990th Hospital of the Joint Logistics Support Force of the People’s Liberation Army from March 2014 to August 2019 were analyzed retrospectively. All were repaired with peroneal artery perforator flaps with super-draining techniques.Cutaneous nerves and perforating vessels were anastomosed according to the routine ratio of 1∶2.The superficial vein and the recipient veinwere matched and marked according to the relative position the diameter and length.Then one to three superficial veins were anastomosed in sequence according to the vein mark number.Upper limb wounds were evaluated by the trial standard of upper limb function evaluation of the Hand Surgery Branch of the Chinese Medical Association.Patients with lower limb wounds were evaluated by the American Orthopaedic Foot and Ankle Surgery Association Ankle-Hindfoot Score System.All patients were evaluated according to the sensory function evaluation standard of the British Medical Research Association.Results:A total of 67 cases were included in this cohort. There were 54 males and 13 females, aged from 21 to 65 years, with an average of 44 years.Eight cases were anastomosed with three superficial veins, 38 cases were anastomosed with two flaps, and 21 cases were anastomosed with one flap.The donor sites were closed directly in 56 cases.Eleven cases received full-thickness skin grafting to cover the donor site.One case showed necrosis of the half flap for the arterial crisis. The wound was repaired by full-thickness skin grafting in further treatment. Three cases had hemorrhage under the free flap, which was healed secondarily after debridement. The remaining were healed well.All patients were followed for 6 to 44 months. There was no obvious swelling and blisters in the early postoperative period.The texture of the flap was the same as the surrounding area.In the later stage, the atrophy and scar were not obvious, without pigmentation. The sensation recovered quickly. The donor site healed without dysfunction.Sixteen patients with upper limb wounds were evaluated by the trial standard of upper limb function evaluation of the Chinese Medical Association Hand Surgery Branch. Twelve cases were excellent, 3 cases were good, and one case was fair. Fifty-one cases of lower limb wounds were evaluated by the American Orthopaedic Foot and Ankle Surgery Association Ankle-Hind Foot Score System. Thirty-eight cases were excellent, 11 cases were good, and two cases were fair. All patients were evaluated according to the sensory function evaluation standard of the British Medical Research Association. The two-point distance discrimination was 8-10 mm, with an average of 9.1 mm. The sensory function of the flaps reached S3+ in 48 cases and S3 in 19 cases.Conclusions:Application of super-draining technique in peroneal artery perforator flap surgery can effectively prevent blood congestion and reduce the necrosis risk of the free flap and complication rate. It can improve the survival quality of the flap and facilitate the recovery of the function of the receiving area.

Objective:To evaluate the clinical effect of applying peroneal artery perforator flap with super-draining techniques in repairing skin defects of extremities.Methods:The data of patients with limb wounds admitted to the 990th Hospital of the Joint Logistics Support Force of the People’s Liberation Army from March 2014 to August 2019 were analyzed retrospectively. All were repaired with peroneal artery perforator flaps with super-draining techniques.Cutaneous nerves and perforating vessels were anastomosed according to the routine ratio of 1∶2.The superficial vein and the recipient veinwere matched and marked according to the relative position the diameter and length.Then one to three superficial veins were anastomosed in sequence according to the vein mark number.Upper limb wounds were evaluated by the trial standard of upper limb function evaluation of the Hand Surgery Branch of the Chinese Medical Association.Patients with lower limb wounds were evaluated by the American Orthopaedic Foot and Ankle Surgery Association Ankle-Hindfoot Score System.All patients were evaluated according to the sensory function evaluation standard of the British Medical Research Association.Results:A total of 67 cases were included in this cohort. There were 54 males and 13 females, aged from 21 to 65 years, with an average of 44 years.Eight cases were anastomosed with three superficial veins, 38 cases were anastomosed with two flaps, and 21 cases were anastomosed with one flap.The donor sites were closed directly in 56 cases.Eleven cases received full-thickness skin grafting to cover the donor site.One case showed necrosis of the half flap for the arterial crisis. The wound was repaired by full-thickness skin grafting in further treatment. Three cases had hemorrhage under the free flap, which was healed secondarily after debridement. The remaining were healed well.All patients were followed for 6 to 44 months. There was no obvious swelling and blisters in the early postoperative period.The texture of the flap was the same as the surrounding area.In the later stage, the atrophy and scar were not obvious, without pigmentation. The sensation recovered quickly. The donor site healed without dysfunction.Sixteen patients with upper limb wounds were evaluated by the trial standard of upper limb function evaluation of the Chinese Medical Association Hand Surgery Branch. Twelve cases were excellent, 3 cases were good, and one case was fair. Fifty-one cases of lower limb wounds were evaluated by the American Orthopaedic Foot and Ankle Surgery Association Ankle-Hind Foot Score System. Thirty-eight cases were excellent, 11 cases were good, and two cases were fair. All patients were evaluated according to the sensory function evaluation standard of the British Medical Research Association. The two-point distance discrimination was 8-10 mm, with an average of 9.1 mm. The sensory function of the flaps reached S3+ in 48 cases and S3 in 19 cases.Conclusions:Application of super-draining technique in peroneal artery perforator flap surgery can effectively prevent blood congestion and reduce the necrosis risk of the free flap and complication rate. It can improve the survival quality of the flap and facilitate the recovery of the function of the receiving area.

Objective::This study was to supply information of the Duchenne muscular dystrophy (DMD) mutational spectrum in 303 Chinese families and further offer 5-year clinical experience of DMD/Becker muscular dystrophy genetic counseling and prenatal diagnosis.Methods::In this retrospective cohort study, three hundred and five pregnancies in 303 pregnant women who has a birth history of DMD/Becker muscular dystrophy patients underwent prenatal diagnosis using multiplex ligation-dependent probe amplification followed by Sanger sequencing between January 2014 and December 2018 at Peking Union Medical College Hospital. The mean age of pregnant women was (33.0 ± 4.1) years old. Karyotype analysis was performed to exclude fetal abnormal karyotype.Results::The detection rate of DMD gene mutation in 303 probands was (296/303) 97.7% with seven families having a negative genetic diagnosis. The mutational spectrum comprised of large arrangements in 288/303 (95.0%) and small mutations in 8/303 (2.6%). Carrier testing was performed among 204 pregnant women among whom, 108 mothers had the same mutation as family proband. Of the 305 pregnancies underwent prenatal diagnosis, 55 of 173 male fetuses were affected. We also performed karyotype analysis and found three abnormal karyotypes of trisomy 21. We even found a fetus with DMD gene mutation and trisomy 21 in a same fetus by further analysis. We also identified two times of germline mosaicism. Conclusion::This study demonstrated the distribution and mutation profile of 303 probands and 305 fetuses. Furthermore, considering the possbility of maternl germilne mosaicism, prenatal diagnosis should be suggested to mothers with a proband whether they carry the causative mutation in their blood or not.