Objective:To explore the clinical phenotype and genetic basis of a child with Neutral lipid storage disease with myopathy (NLSDM).Methods:A child who was admitted to the First Affiliated Hospital of Zhengzhou University in February 2021 for a history of elevated creatine kinase (CK) for over 2 months was selected as the study subject. Clinical and laboratory examinations were carried out, and the child was subjected to whole exome sequencing. Candidate variants were validated by Sanger sequencing of her family members.Results:The patient, a 9-year-old female, had exhibited weakness in the lower limbs, elevated CK level, and refractory cardiomyotrophy. Genetic testing revealed that she has harbored c. 32C>G (p.S11W) and c. 516C>G (p.N172K) compound heterozygous variants of the PNPLA2 gene, which were respectively inherited from her mother and father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as likely pathogenic (PM1+ PM2_Supporting+ PP3+ PP4). Conclusion:The c. 32C>G (p.S11W) and c. 516C>G (p.N172K) compound heterozygous variants of the PNPLA2 gene probably underlay the myasthenia gravis and elevated creatine kinase in this child.

Objective To investigate the effect and possible mechanism of Qili Qiangxin Capsule on the en-dothelial mesenchymal transition of myocardial cells in mice with heart failure after myocardial infarction.Methods A total of 21 male C57BL/6 mice aged 6-8 weeks were divided into a normal control group,a drug control group(normal mice were treated with high-dose Qili Qiangxin Capsule),and a heart failure model group.The heart failure model group was divided into a positive drug control group[microRNA21(miR-21)inhibitor intervention],high,medium,and low dose Qili Qiangxin Capsule intervention groups,a total of seven groups.The heart failure model group underwent ligation of the left anterior descending coronary artery,while the normal control group and the drug control group underwent the same surgical procedure as the model group,but left anterior descending coronary artery ligation was not performed.A small animal ultrasound ima-ging system was used to detect hemodynamic parameters in mice.HE staining was used to observe pathologi-cal changes in mouse myocardium.Sirius red staining was used to detect myocardial tissue fibrosis in mice.Wheat-germ agglutinin staining was used to evaluate the degree of myocardial cell enlargement.Enzyme linked immunosorbent assay(ELISA)was used to detect the expression of N-terminal pro brain natriuretic peptide(NT-proBNP)and cardiac troponin I(cTnⅠ)in mouse serum heart failure markers,as well as the expression levels of activator protein-1(AP-1)and transforming growth factor-β1(TGF-β1)in mouse myocardial tissue.Real time fluorescence quantitative PCR(qRT-PCR)was used to detect the expression level of miR-21 in pe-ripheral blood of mice.Western blot was used to detect CD31 and VE-cadherin in mouse myocardial tissue,and immunohistochemistry was used to detect the expression levels of a-smooth muscle actin(a-SMA),iron death inhibitory protein 1(FSP1),bone morphogenetic protein 7(BMP7),TGF-β1,Smad2/3,and p-Smad2/3 pro-teins.Results Qili Qiangxin Capsule significantly improved heart function and myocardial tissue pathological damage in heart failure mice,reduced myocardial tissue fibrosis levels,alleviated compensatory hypertrophy of non infarcted myocardial cells,inhibited endothelial mesenchymal transition in myocardial tissue,decreased the expression of miR-21,TGFβ1,a-SMA,FSP1 and Smad2/3,and increased the expression of BMP7,VE-cadher-in,and CD31.Conclusion Qili Qiangxin Capsule may improve myocardial injury in mice with heart failure caused by myocardial infarction by regulating the expression of miR-21 and affecting the downstream TGF-β1/Smad2/3 signaling pathway.

Objective: The difficulty of surgery, which is related to surgical safety, has only been mentioned as a subjective perception for a long time. There are few studies to quantitatively and systematically evaluate the difficulty of thoracic surgery. This study aims to establish a quantitative evaluation index system for thoracic surgical difficulty, and to evaluate its reliability and validity.Methods: During the 2 national thoracic surgery academic conferences, the factors that may affect the difficulty of thoracic surgery were evaluated by the thoracic surgeons via semi open questionnaires, and then the evaluation item pool of thoracic surgery difficulty was established. The importance of each indicator in the evaluation item pool was graded by 2 rounds of Delphi method. The average score, full score rate and coefficient of variation of each index were calculated, and the composite index method was used to decide whether to delete the indicator. Finally, the difficulty evaluation scale of thoracic surgery was constructed. The surgical data of patients with thoracic tumors were collected. The scale was used to evaluate the difficulty of thoracic surgery for lung, esophageal, and mediastinal tumors. The reliability and validity of the scale were evaluated by the commonly used difficulty evaluation indexes: Operation time, intraoperative estimated blood loss, Visual Analog Scale (VAS), side injury rate, and blood transfusion rate as standards. Results:A total of 230 questionnaires were distributed in the 2 rounds of survey, and 149 valid questionnaires were collected after eliminating duplicate questionnaires. Through 2 rounds of Delphi consultation with 20 experts, the difficulty evaluation indexes were scored and screened, and the difficulty evaluation scale of thoracic surgery was established. It included 5 main indexes (surgical decision-making, operation space, separation interface, reconstruction method, and surgical materials) and 16 secondary indexes [American Society of Anesthesiologists (ASA) classification, surgical trauma, operator experience, space size, space depth, space source, space adjacent, interface content, anatomical gap, visual field, interface size, reconstruction complexity, reconstruction scope, autologous materials, artificial biomaterials and instruments]. After weighting, the total score of Thoracic Surgery Difficulty Evaluation Scale was from 1 to 3. A Score at 1 standed for simplicity, and score at 3 standed for difficulty. Further data were collected for 127 cases of thoracic tumor surgery. The difficulty scores of surgery for lung, esophageal, and mediastinal tumor were 1.69±0.26, 1.86±0.18, and 1.56±0.31, respectively, and the Cronbach ' sαcoefficients of the scale in 3 tumor surgeries were 0.993, 0.974, and 0.989, repectively, and the Spearman Brown coefficients were 0.996, 0.984, and 0.996, respectively. The Spearman correlation coefficients of operation difficulty score with operation time, estimated blood loss, and VAS were 0.360 and 0.634, 0.632 and 0.578, 0.696 and 0.875, respectively (all P<0.05). The incidence of postoperative complications in the difficult operation group (difficulty score >1.85) was higher than that in the non-difficult operation group (P=0.02).Conclusion: The quantitative Thoracic Surgical Difficulty Assessment Scale has been successfully established, which shows good reliability and validity in thoracic tumor surgery. The Thoracic Surgical Difficulty Assessment Scale has broad application prospects in reducing the difficulty of the surgery, controlling surgical complications, and training surgeons.

Objective: Systematic nodal dissection (SND) is an important component of locally advanced non-small cell lung cancer (NSCLC), but modification of this procedure is rarely reported. In this paper, we reported a modified technique of systematic mediastinal lymph node dissection (MLND) of operable lung cancer by video-assisted thoracic surgery (VATS). Parallel upward dissection (the PUD technique) was named due to this modification and the efficacy of the PUD technique was evaluated as well.Methods: We summarized the tips of the PUD technique and its version was updated in surgical aspect. The design and procedure sequence of the PUD technique were introduced in detail as well as its pros and cons. A retrospective study was performed on 998 cases of locally advanced NSCLC which accepted the PUD procedure in Department of Thoracic Surgery, Second Xiangya Hospital, Central South University, from 2012 to 2020. The perioperative mortality and the incidence of general and serious complications (such as recurrent laryngeal nerve injury, bronchopleural fistula) were analyzed. Results: All the 998 cases were operated successfully with the PUD technique and few post-operation complications were found. There was no perioperative mortality and severe complication such as recurrent laryngeal nerve injury and bronchopleural fistula. Conclusion:The PUD technique is safe and convenient and it can be a good supplement to the existing surgical techniques for locally advanced lung cancer.

Objective To evaluate and compare the applicability and accuracy of POSSUM , P-POSSUM and Thora-coscore in predicting the postoperative mortality of thoracic surgery patients .Methods We collected the clinical data of 1 450 thoracic surgery patients during March 2012 to August 2013 in the Second Xiangya Hospital.We used the 3 kinds of risk sco-ring system to calculate the predicted postoperative mortality in these patients .Then we used H-L test and the area under the ROC curve to evaluate and compare their degrees of compliance and validities of identification independently .Results Within 1 450 cases,20 patients (1.4%) died in 30 days after surgery, POSSUM overestimated the mortality (3.84%,P<0.001), while the P-POSSUM (1.05%/1.10%) and Thoracoscore (0.90%) underestimated the mortality, P>0.05.The area under the ROC curve of POSSUM, P-POSSUM ( two kinds of death prediction formula ) and Thoracoscore to predict postoperative mortality in all thoracic surgery patients was 0.774,0.777,0.777 and 0.831 independently, P <0.05; the area under the ROC curve to predict postoperative mortality in patients after lung surgery was 0.755,0.771,0.771,0.849 independently, P<0.05; the area under the ROC curve to predict postoperative mortality of patients with esophageal surgery was 0.640,0.650,0. 650,0.764 independently, only Thoracoscore P<0.05;the area under the ROC curve to predict postoperative mortality of pa-tients with mediastinal and other surgical was 1.000,1.000,1.000,0.854 independently, only Thoracoscore P<0.05.Con-clusion Thoracoscore scoring system is the most suitable risk scoring system to predict postoperative mortality in thoracic sur-gery patients with high predictive accuracy and good identification validity .

Aortoesophageal fistula (AEF) is a rare but fatal complication caused by foreign body ingestion. Aortic replacement and endovascular stent graft are the common repair surgeries. The materials to repair an aortic defect in AEF are typically homograft or allograft, but the use of an autologous pericardium patch is rarely reported. Here we reported a patient with AEF and severe mediastinal infection induced by chicken bone ingestion. In this case, the autologous pericardium patch was used as the repair material.
Aorta ; injuries ; surgery ; Aortic Diseases ; etiology ; surgery ; Autografts ; transplantation ; Esophageal Fistula ; etiology ; surgery ; Foreign Bodies ; complications ; Gastrointestinal Hemorrhage ; etiology ; surgery ; Humans ; Mediastinal Diseases ; surgery ; Pericardium ; transplantation ; Stents ; Transplantation, Autologous ; methods ; Vascular Fistula ; etiology ; surgery ; Vascular Grafting ; methods

We developed and designed a new type of artificial trachea. The basic structure of the artificial trachea was polytetrafluoroethylene vascular prosthesis linked with titanium rings on both sides. Dualmesh was sutured on titanium rings. This experimentation follows the replacement of trachea in dogs with a combined artificial trachea to investigate the feasibility of this type of prosthesis. Sixteen dogs were implanted with the combined artificial trachea after resection of 5 cm of cervical trachea. The 5 cm-long trachea of dogs on the necks were resected and the reconstruction of the defect of the trachea was performed with trachea prosthesis. According to the method of trachea reconstruction, the models were divided into 2 groups, artificial trachea implantation group (the control group, n = 8) and group of artificial trachea implantation with growth factor (the experimental group, n = 8). Then computer tomography scan (CT), bronchoscope and pathologic examination were conducted periodically to observe the healing state of the hybrid artificial trachea. None of the dogs died during operation of cervical segmental trachea construction. But four dogs in the control group died of apnea in succession because artificial trachea was displaced and the lumen was obstructed, while 2 dogs died in the experimental group. In the first month there was granulation around anastomosis with slight stenosis. The rest of dogs were well alive until they were sacrificed 14 months later. The mean survival time of the experimental group was longer than that of the control group. The rate of infection, anastomotic dehiscence, severe stenosis and accidental death in the experimental group were lower than the control group (P < 0.05). Artificial trachea was encapsulated by fibrous tissue and no mucous membrane was seen in the lumen of the artificial trachea. The artificial trachea can be used to reconstruction of the defect of the trachea with long-term survival of the animals. The unique design of artificial trachea reduces stenosis around anastomosis effectively but infections and split or displacement of the artificial trachea are still major problems affecting long-term survival of the animals. Application of growth factors to a certain extent promotes tissue healing by changing the local environment.
Animals ; Artificial Organs ; Dogs ; Prostheses and Implants ; Prosthesis Design ; Prosthesis Implantation ; Reconstructive Surgical Procedures ; Titanium ; Trachea ; surgery

BACKGROUND:Elderly patients with degenerative lumbar degeneration often appear insufficient holding power of pedicle screw in spine surgery, which is prone to occur de-pinning and leads to insecure fixation. How to increase the holding power of screws has become a hot research. OBJECTIVE:To observe the early clinical effect of pedicle screws with cement augmentation for treating lumbar degenerative diseases in elderly patients. METHODS:A total of 65 old patients with lumbar degenerative diseases received a treatment between August 2012 and April 2014, and were divided into two groups according to the treatment strategy:treatment group (n=24;internal fixation of pedicle screws with cement augmentation) and control group (n=41;routine internal fixation of pedicle screws). General conditions of patients in two groups were observed and compared. Visual analog scale (VAS) and Japanese Orthopaedic Association (JOA) score system were used for evaluating the lumbar and back pain, and restoration of neurological function in lower limbs respectively. RESULTS AND CONCLUSION:Al of the patients successful y received the surgery and then were fol owed up from 3 to 20 months. The anterioposterior and lateral X-ray film revealed no loosening, loss, fracture of the screws, and no loss of intervetebral space height was found. There was no significant difference in the blood loss and hospital stay between two groups (P>0.05). JOA at postoperative 3 and 6 months, and VAS score at postoperative 3 months were significantly improved after the treatment of pedicle screws with cement augmentation, when compared to control group (P<0.05). VAS scores showed no difference at 6 months postoperatively in two groups (P>0.05). Pedicle screws with cement augmentation for treating lumbar degenerative diseases have the advantages of improving the screws holding strength, reconstructing the stability of lumbar vertebra and obtaining clinical efficacy on degenerative spine.

Objective To promote application and explore the old Chinese tradition of academic experience and their experience side mode.Methods In the study, the model of translational medicine was studied combined with the characteristics of Chinese medicine, taken the model from clinical to basic (experimental) to clinical research, combined with prospective and review of the clinical and research methods, with the modern information technology and other technological, and Tonifying Five Internal Organs(TFIO) byZhang-Chongquanfor treatment of coronary heart disease, vascular dementia.Results The article was Clarified the theory of TFIO byZhang-Chongquan,with clinical evidence.Conclusion The model of translational medicine can be used to summarize the academic experience.

Objective:To summarize the curative effect, safety and experience of non-thoracoscopic modiifed Nuss procedure for correction of pectus excavatum (PE).
Methods:From January 2007 to December 2011, 267 cases of PE patients were selected in our hospital. Among them 85 were treated by thoracoscopic minimally invasive modified Nuss Procedure and 182 by non-thoracoscopic procedure. The operation time, blood loss during operation, length of postoperative hospital stay and effect of treatment were compared retrospectively.
Results:All the 267 patients finished the repair procedure smoothly. The non-thoracoscopic group had advantage in terms of operative time (22.5 min vs 35.1 min, P<0.05). As for the blood loss during operation, length of postoperative hospital stay and effect of treatment, there was no signiifcant difference among the 2 groups (P>0.05). hTere were no deaths.
Conclusion:Non-thoracoscopic minimally invasive modified Nuss procedure is as safe and effective as thoracoscopic Nuss procedure. With advantages of simpliifed operation procedure and shorter operation time, it is easier in practice.