ObjectiveTo explore the molecular characteristics of partial epilepsy with febrile seizures plus(PEFS+). MethodsWe systematically reviewed all SCN1A mutation-related publications that published between Jan.2000 and Dec.2014 on Pubmed and established a database of SCN1A mutations (http://www.gzneurosci.com/SCN1Adatabase/). The characteristics of mutations that cause PEFS+ were analyzed and compared with that of severe myoclonic epilepsy in infancy (SMEI). ResultsThe database included 1, 257 SCN1A mutations, which identified from 1, 727 unrelated cases. In which there were 30 mutations, from 32 unrelated cases, were associated with PEFS+. 76.7% (23/30) mutations were missense, of which 47.8% (11/23) were located on pore region. Significant difference in the percentage of truncation mutation was observed between PEFS+ and SMEI (P < 0.05). There was no significant difference in the percentage of missense mutation that located on the pore region between PEFS+ and SMEI; but the differ significantly in D-value of the missense mutations, which quantified the alteration of amino acid(P=0.042, rank sum test). ConclusionsPEFS+, which distinguishes from GEFS+ and SMEI in clinical and molecular characteristics, is a special phenotype of epilepsy that is associated with SCN1A mutations.
Abstract: Objective To summarize the 17-year clinical experience of coronary artery bypass grafting (CABG). Methods From April 1987 to May 2004, total 253 patients with coronary artery disease underwent CABG. The operation were performed in 217 patients under cardiopulmonary bypass (CPB) with moderate hypothermia, because of calcified ascending aorta, partial replacement of ascending aorta wall with apiece of Gore-Tex graft for the proximal anastomosis were done in 10 patients. Off-pump coronary artery bypass grafting (OPCAB) were performed in 30 patients. The operation under CPB with heart beating were performed in 6 patients. Cardiac valvular operations were performed in 15patients. Left atrium myxoma operation was performed in 1 patient. Left ventricular aneurysm plasty operation were performed in 10 patients. Results Total mortality rate was 7.9% (20/253). There was significant difference between the mortality rate of the first 10 years (16.0%,8/50) and that of the last 7 years (5.9%,12/203; χ2=5.62，Plt;0.05). The causes of death were: 3 patients died on table because of low cardiac output after valvular replacement though emergent CABG were conducted, 2 patients died of multiple organ failure after valvular replacement and emergent CABG had undergone, 3 patients died of ventricular fibrillation during closing the sternum, 6 patients died of multiple organ failure caused of severe lung infection, 2 patients died of ventricular fibrillation after operation, and 4 patients died of acute renal failure. One hundred and fiftyseven patients (67.4%, 157/233) were followed up, follow-up time was 6 months to 15 years. Three of them died of unknown causes, most of them have improved life quality. There were 87 patients in New York Heart Association (NYHA) class Ⅰ, 49 patients in NYHA class Ⅱ, 16 patients in NYHA classⅢ, and 2 patients in NYHA classⅣ. Conclusion When the experience of surgery and postoperative care is matured, CABG is a safe method for treatment of coronary artery disease. Partial replacement of ascending aorta wall with GoreTex graft for proximal anastomosis of the graft is acandidate method for the treatment of patients with calcified ascending aorta.
Objective To investigate the advance in surgical treatment of inferior pole fracture of patella and to explore the existing problems and further research directions. Methods Domestic and foreign l iterature in recent years on patella fracture was extensively reviewed, the surgical treatment of inferior pole fracture of patella was summarized by combining the research findings with cl inical experience. Results The surgical treatment of inferior pole of patella fractures included retaining the integrity of the patella and partial patellectomy of inferior pole of patella and extending knee installationreconstruction. There were kinds of ways to retain the integrity of the patella, such as circular wire fixation, tension bandfixation, NiTi-patella concentrotor fixation, basket plate fixation, reforming McLaughl in way and polydioxanone suture netfixation; the latter category is partial patellectomy and extensor device reconstruction. Every surgical way had its advantages and l imitations. Conclusion Most studies tend to retain the integrity of the patella, but some researches have shown that partial resection of inferior pole of patella had no significant effect on knee function. It is important to obtain the security excisional range and elongation range postoperative by experiment for regulating the treatment of comminuted fractures of inferior pole of patella.
Objective To explore the effects of changes in the length of the patella on patellofemoral contact areas and pressures, to provide a theoretical foundation for treatment of lower pole of patella fracture. Methods Using homemadeloadingequipment, pressure sensitive films of 100 mm × 100 mm in size were placed on the force platform, vertically downwardload (0-19.6 N) was given. The pressure-sensitive response curve was obtained by computer image analysis of the pressuresensitive tablets and calculation. Six male left fresh knee specimens from voluntary donation were placed in homemade-test fixed load device, and the double-layer pressure sensitive film was placed on the patellofemoral joint surface; under loading of 196 N at flexion of 0, 15, 30, 45, 60, 75, 90, 105, 120, and 135° for 2 minutes, respectively, the pressure sensitive film was removed as the control group. Patellas were transected cut and in situ fixed by Kirschner wire and steel-wire as in situ fixation group. Bone fragments obtained from the corresponding 1/6 and 2/6 of contralateral patella, were embedded in the interspace between osteotomy with internal fixation with Kirschner wire and steel-wire respectively as lengthening group. Followed by the amputating patella length of 1/6, 2/6, 3/6 from proximal to distal and internal fixation with Kirschner wire and steel wire by turns as a shortening group. Repeat the above steps of each experiment. By image analysis the pressure sensitive film, the patella joint contact area were measured, and patellar contact pressure (including the peak pressure and average pressure) was calculated according to pressure-sensitive response curve. Results The actural contact area were significantly smaller in the shortening groups than in the control group at flexion of 30-135° (P lt; 0.05); the pressure was significantly bigger in shortening 1/6 group at flexion of 0, 15, 60, and 75°, in shortening 2/6 group at flexion of 0° and 75-135°, and in shortening 3/6 group at flexion of 0-30°and 75-135° than in the control group (P lt; 0.05); the peak pressure was significantly bigger in shortening 1/6 group at flexion of0, 15, and 60-105°, in shortening 2/6 group at flexion of 0, 15, and 75-105°, and in shortening 3/6 group at flexion of 0, 30, and 60-135° than in the control group (P lt; 0.05). The actural contact area was significantly smaller in the lengthening groups than in the control group at flexion of 15, 60, and 90°, and it was bigger at flexion of 105, 135° in lengthening 2/6 group than in the control group (P lt; 0.05); the pressure was significantly bigger in the lengthening groups at flexion of 15-75° than in the control group and it was smaller in the lengthening groups at flexion of 105, 135°, and smaller in lengthening 2/6 group at flexion of 120° (P lt; 0.05); the peak pressure was significantly smaller in lengthening 1/6 group than in the control group at flexion of 0, 90, and 105° and smaller in lengthening 2/6 group at flexion of 0° (P lt; 0.05). The actural contact area was significantly bigger in all lengthening groups than in all shortening groups at flexion of 30, 45, and 75-135° (P lt; 0.05). The pressure was significantly bigger in shortening 1/6 group than in lengthening groups at flexion of 0, 60, and 90° (P lt; 0.05), in shortening 2/6 group at flexion of 0, 60, and 90-120° (P lt; 0.05), in shortening 3/6 group at flexion of 0-135° (P lt; 0.05). The peak pressure was bigger in shortening groups than in lengthening 1/6 group at flexion of 0, 90, and 105° (P lt; 0.05), bigger than lengthening 2/6 group at flexion of 0° (P lt;0.05余请见正文.....
ObjectiveTo explore the effect of laparoscopic partial recto-sigmoid resection with rectopexy for adult complete rectal prolapse. MethodsClinical data of 32 adult patients with complete rectal prolapse who underwent laparoscopic partial recto-sigmoid resection with rectopexy in our hospital from May. 2010 to May. 2013 were analyzed. ResultsAll operations were performed successfully and all patients were cured, no one transferred to open surgery. The mean of operation time was 114.7 min (95-167 min), the mean of operative blood loss was 80 mL (55-150 mL), and the mean of hospital stay was 9.8 d (6-14 d). All patients were followed up for 3-48 months (mean of 25.6 months), and anal function of them recovered well. During the follow-up period, there were no operative complications and recurrent case. ConclusionsLaparoscopic partial recto-sigmoid resection with rectopexy is a safe and effective procedure for the treatment of adult complete rectal prolapse, with minimal invasion, quick recovery, and a low recurrence rate. It provides a novel surgical method with a high value of clinical application.
【摘要】 目的 评价聚四氟乙烯人工听骨在慢性中耳炎听力重建中的应用效果。 方法 回顾性分析2008年8月〖CD3/5〗2009年12月慢性中耳炎手术中接受聚四氟乙烯部分/全人工听骨赝复物(Partial/Total ossicular replacement prostheses,PORP/TORP,美国美敦力公司)行听骨链重建的50例患者50只耳的临床资料及随访结果。比较听力学资料完整的39例39只耳手术前及手术后3～6个月语言频率(05、1.0、2.0 kHz)气导平均听力及气骨导差(airbonecap,ABG)。 结果 随访3～16个月,50只耳手术后1～3个月均干耳,手术后1个月鼓膜愈合良好。9只耳手术中人工听骨表面未置入耳屏软骨,其中1只耳手术后3个月人工听骨脱出,1只耳手术后2个月鼓膜内陷,人工听骨外端盘面外突。39只耳手术前气导听力为3667～9500 dB,平均为(5970±1433) dB;骨导听力为330～5170 dB,平均为(2278±1161) dB;手术后气导听力平均为(4660±1703) dB,与手术前比较,差异有统计学意义(Plt;001)。手术前ABG为10～60 dB,平均为(3700±1212) dB。手术后ABG平均为(2620±1156) dB,与手术前比较,差异有统计学意义(Plt;001)。手术后气导听力提高1000～3000 dB者(手术后听力提高有效)共24只耳,有效率为615%(24/39)。 结论 聚四氟乙烯人工听骨是慢性中耳炎体重建听骨的理想材料,手术后取得良好的听力结果,远期疗效需进一步观察。【Abstract】 Objective To evaluate the effects of hearing reconstruction in chronic otitis meadia with prothesis. Methods Retrospective reviews were performed in 50 patients(50 ears)who had undergone Teflon Partial/Total ossicular replacement prostheses (PORP/TORP) implants from August 2008 to December 2009. Audiometric measurements (the average hearing threshold at 05, 10, 20 kHz) were taken in 39 patients (39 ears) preoperatively and postoperatively. Comparisons of preoperative and postoperative mean air condition and air bone gap (ABG) were performed. Results All patients were followed up for three to 16 months, and the surgery resulted in a dry ear and a healing drum without perforation in all 50 patients. Of the nine patients without tragus cartilage interposed between the drum and the prosthesis, one patient occured prothesis extrusion, and one patient had retraction of the eardrum. The mean air conduction of the 39 patients before and after surgery were (5970±1433) dB and (4660±1703) dB. The mean air bone gap (ABG) was (3700±1212) dB before operation, while it was elevated to (2620±1156) dB when followed up (Plt;001). The surgical treatments were found to be successful (postoperative mean air condition improved 10.0030.00 dB) in 24 ears (615%). The effectiveness was 615%. Conclution Teflon could be an ideal material for ossicular reconstruction in chronic otitis media, and the hearing improvement is obtained after operation, but the problem of extrusion has not been solved at present, and the longterm effects should be surveyed.
ObjectiveTo study the clinical characteristics of patients with partial and transitional atrioventricular septal defects (P/TAVSDs) in our hospital, and to evaluate the early follow-up outcomes from a real-world research perspective.MethodsThe clinical data of all patients diagnosed with P/TAVSDs from January 1, 2018 to July 12, 2020, in our hospital were collected, and all patients' examination results were used as the real-world follow-up data, univariable Cox risk proportional model was used to analyze the outcomes. A total of 93 patients were finally included in the analysis, 72 with partial and 21 with transitional AVSD. There were 38 males and 55 females at age of 182.0 months (20.0 d to 779.5 months).ResultsUnivariable Cox proportional risk model suggested that at least one cardiac malformation (HR=15.00, 95%CI 3.00 to 75.00, P=0.001), preoperative moderate or greater mitral regurgitation (HR=6.60, 95%CI 1.70 to 26.00, P=0.007), and preoperative moderate or greater tricuspid regurgitation (HR=13.00, 95%CI 3.10 to 51.00, P<0.0001) were risk factors for moderate or greater postoperative atrioventricular valve regurgitation.ConclusionChildren with coarctation of the aorta or partial pulmonary vein connection, moderate or greater preoperative mitral regurgitation, and moderate or greater preoperative tricuspid regurgitation need to be alerted to the risk of moderate or greater postoperative atrioventricular valve regurgitation. Real-world data, with relaxed statistical P values and combined expertise, can suggest clinical conclusions that are close to those of high-quality retrospective studies.
ObjectiveTo explore the effect of partial splenic embolization on splenectomy plus devascularization of esophageal and gastric vein. MethodsTwenty three cirrhosis patients with portal hypertension combined the hypersplenism (partial splenic embolization group), who received partial splenic embolization in our hospital from June 2010 to June 2015, as well as 30 cirrhosis patients with portal hypertension combined the hypersplenism without undergoing partial splenic embolization in the same period (non-partial splenic embolization group), were collected retrospectively. All patients underwent splenectomy plus devascularization of esophageal and gastric vein. Comparison of operation time, intraoperative blood loss, intraoperative blood transfusion volume, postoperative total flow of abdominal drainage tube, postoperative gastrointestinal function recovery time, hospital stay, and the incidence of complication was performed. ResultsThe operation time[(3.56±0.70) h vs. (1.78±0.28) h], intraoperative blood loss (900 mL vs. 250 mL), intraoperative blood transfusion volume (800 mL vs. 200 mL), postoperative total flow of abdominal drainage tube (450 mL vs. 150 mL), postoperative gastrointestinal function recovery time[(43.38±18.68) h vs. (27.60±12.39) h], hospital stay (12 d vs. 7 d), and incidence of incision infection[34.8% (8/23) vs. 10.0% (3/30)] of partial splenic embolization group were all higher or longer than those corresponding indexes of non-partial splenic embolization group (P < 0.05). All patients of 2 groups were followed up by telephone visit for 6-58 months, and the median was 28-month. There was no recurrence of gastrointestinal hemorrhage during the follow-up period. ConclusionsSplenectomy is more difficult, and maybe has more intraoperative blood loss and complications for cirrhosis patients with portal hypertension combined the hypersplenism, who received partial splenic embolization ever. For these patents, the recovery time is longer. We should make choice of partial splenic embolization or splenectomy directly according to the patients' situation, to implement individualized treatment, so we can make the biggest benefit for patients.
Constrained spherical deconvolution can quantify white matter fiber orientation distribution information from diffusion magnetic resonance imaging data. But this method is only applicable to single shell diffusion magnetic resonance imaging data and will provide wrong fiber orientation information in white matter tissue which contains isotropic diffusion signals. To solve these problems, this paper proposes a constrained spherical deconvolution method based on multi-model response function. Multi-shell data can improve the stability of fiber orientation, and multi-model response function can attenuate isotropic diffusion signals in white matter, providing more accurate fiber orientation information. Synthetic data and real brain data from public database were used to verify the effectiveness of this algorithm. The results demonstrate that the proposed algorithm can attenuate isotropic diffusion signals in white matter and overcome the influence of partial volume effect on fiber direction estimation, thus estimate fiber direction more accurately. The reconstructed fiber direction distribution is stable, the false peaks are less, and the recognition ability of cross fiber is stronger, which lays a foundation for the further research of fiber bundle tracking technology.
Objective To analyze the clinical effect of partial aortic root remodeling for root reconstruction on Stanford type A aortic dissection. Methods From January 2010 to December 2015, 30 patients (25 males, 5 females) underwent partial aortic root remodeling for root reconstruction on Stanford type A aortic dissection with involvement of aortic root. The range of age was from 27 to 72 years, and the mean age was 51.2±8.0 years. The proximal aortic dissection received partial aortic root remodeling, and the operation procedures included partial aortic root remodeling+ascending aortic replacement in 9 patients, partial aortic root remodeling+ascending aortic replacement+hemi-arch replacement in 6 patients, partial aortic root remodeling+ascending aortic replacement+Sun's procedure in 15 patients. The patients were followed up for 10 to 60 months with a mean of 37.9±3.2 months. Preoperative and postoperative degrees of aortic regurgitation were compared. Results All patients survived from the operation, and one patient died from severe pulmonary infection 15 days after operation. The overall survival rate was 96.7% (29/30). One patient died during the follow-up. Two patients underwent aortic valve replacement in the 12th and 15th postoperative month respectively because of severe aortic regurgitation (AI). Up to the last follow-up, trivial or no aortic regurgitation was demonstrated in 24 patients, but mild aortic regurgitation occurred in 2 patients. Conclusion The surgical treatment for aortic root pathology due to Stanford type A aortic dissection is challenging, and partial aortic root remodeling operations could restore valve durability and function, and obtains the early- and mid-term results.