National Medical Journal of China
Volume 100 · Issue 39 · 2020
Natl Med J China
Proband phenotype and genotype test results are equally important for the accurate diagnosis of genetic diseases. The accurate interpretation of genetic variation needs the help of genotype data and phenotype data. At present, there are many genotype and phenotype databases established through data sharing in the world. However, in view of the defects and shortcomings of the existing international databases, the data collected in them can't represent the characteristics of genetic variation spectrum and phenotype spectrum of Chinese population. The current variation interpretation between Chinese laboratories is still quite different, so it is necessary to establish a genotype-phenotype database of Chinese population. The establishment of the database requires the joint efforts of organizations and managers, clinical laboratories and experts in the field. Through the establishment of a database, accurate diagnosis and individualized treatment of genetic diseases can be promoted.
Spondyloarthritis is an inflammatory rheumatic disease that affects many systems in the whole body. It promotes each other with many comorbidities, forming a vicious circle of inflammation. However, exercise rehabilitation plays an irreplaceable and important role in the improvement of patients' condition and the prevention and treatment of comorbidities through anti-inflammatory and anti-immune aging mechanisms. Therefore, under the current good opportunity of the continuous emergence of biological agents and the widespread application of mobile medical care, more attention should be paid to sports rehabilitation, and its implementation, popularization and improvement should be promoted through disease education and chronic disease management, so that patients can obtain an overall improvement in their condition.
normal pressure hydrocephalus (NPH) refers to a group of clinical syndromes with gait instability, cognitive dysfunction and urinary incontinence as typical clinical manifestations, ventricular enlargement on imaging examination, and cerebrospinal fluid pressure measurement within the normal range, which can be divided into idiopathic and secondary. Cerebrovascular disease-related normal NPH is a special type of NPH secondary to various cerebrovascular diseases[
With the increase of the elderly population in China and the continuous improvement of the standardized level of thrombotic disease management, the proportion of patients taking antithrombotic drugs for a long time before surgery in surgical patients is also increasing. Antithrombotic drugs mainly include anticoagulants, antiplatelet drugs and fibrinolytic drugs[
To investigate the value of two-dimensional shear wave elastography (2D SWE) combined with clinical biochemical data in predicting posthepatoectomy liver failure (PHLF) in patients with hepatocellular carcinoma (HCC).
A total of 274 HCC patients who underwent hepatectomy in Zhongshan Hospital Fudan University from January 2015 to January 2016 were retrospectively collected, including 235 males and 39 females, age 19-80 (56±11) years. All patients were confirmed to be HCC by postoperative pathology. The preoperative 2D SWE examination, laboratory examination results and intraoperative indicators were analyzed. According to the occurrence of PHLF after surgery, single factor analysis and multiple logistic regression analysis were performed on the above indicators to obtain a binary logistic regression model, and evaluate the diagnostic effect of the model on PHLF. In addition, 103 HCC patients from October 2019 to January 2020 were retrospectively collected as an external validation set, including 89 males and 14 females, age 23-80 (55±11) years old.
The liver stiffness measurement (LSM) obtained from 2D SWE, INR and Laminin (LN) were independent predictors of PHLF. The formula of prediction model PM=-15.451+0.095×LSM+11.7×INR+0.012×LN was obtained by combining above three factors. The area under the curve (AUC) of PHLF was 0.82, which was higher than that of end-stage liver disease model (MELD) score and Child-Pugh grading diagnosis of PHLF. The AUC of PHLF predicted by PM in the external validation group was 0.81.
2D SWE is helpful for clinicians to evaluate liver reserve function preoperatively and to predict the occurrence of PHLF in patients with HCC.
To explore the role of peripheral serum complement protein in the pathogenesis of cognitive impairment by analyzing the correlation between peripheral serum levels of complement protein and cognitive function in first-episode drug-naive patients with schizophrenia.
A total of 66 first-episode drug-naive schizophrenics (schizophrenia group) from the Third Affiliated Hospital of Sun Yat-sen University and 88 healthy volunteers (control group) were enrolled. Peripheral serum levels of complements (C3, C4 and CH50) were separately examined by liposome immunoassay and turbidimetric inhibition immunoassay. The MATRICS Consensus Cognitive Battery (MCCB) was used to assess the cognitive function.
Peripheral serum levels of C4, but not C3 and CH50, were significantly lower in patients with schizophrenia [0.20(0.16, 0.25) g/L] than those in the control group [0.23 (0.19, 0.27) g/L] (P<0.05). Moreover the peripheral serum levels of C3, C4 and CH50 were positively correlated with MCCB verbal fluency (r=0.258, r=0.283 and r=0.330, all P<0.05), and the peripheral serum levels of CH50 were negatively correlated with attention and alertness (r=-0.257, P<0.05).
The decrease of peripheral serum complement C4 protein levels may be involved in the mechamism of cognitive impairment in schizophrenia.
To investigate the clinical value of extended radical resection for stage pT3 gallbladder cancer (GBC).
The clinical and pathological data of 323 patients with stage pT3 GBC who received regional radical resection or extended radical resection in 7 domestic hepatobiliary centers in China from January 2013 to December 2018 were retrospectively analyzed. The propensity score matching method was used to select 36 cases in each of the regional radical resection group (group A1) and the extended radical resection group (group B1). The surgical indicators and overall survival rates of the two groups were compared, and prognostic factors were analyzed.
The number of positive lymph nodes [2(0,3)] and the total number of lymph nodes removed [3(1,4)] in group B1 were both higher than those in group A1 [1(0,1), 4(2,7)] (allP<0.05). There was no significant difference in other clinical and pathological factors between the two groups (all P>0.05). The 1, 3, and 5-year survival rates of group A1 were 75%, 44%, and 29%, respectively, which were significantly higher than those of group B1 of 50%, 15%, and 11% (χ2=11.311, all P<0.001). Extensive radical resection (HR=2.161, 95%CI: 1.222-3.821), hepatic parenchymal invasion (HR=2.324, 95%CI: 1.305-4.139), positive lymph node rate ≥1/3 (HR=2.927, 95%CI: 1.641-5.220), and ⅢB/ⅣB staging (HR=3.325, 95%CI: 1.750-6.320) are risk factors for the prognosis of GBC patients (all P<0.05), of which extended radical resection (HR=1.969, 95%CI: 1.083-3.581) was an independent risk factor for prognosis (P<0.05). When the ratio of positive lymph nodes was<1/3 and the tumor invaded the hepatic parenchyma, the overall survival rate of group B1 was significantly lower than that of group A1 (allP<0.05).
The overall survival rate in patients with stage pT3 GBC whose lymph node positive rate<1/3 and/or hepatic parenchymal invaded cannot be improved by extended radical resection. Extended radical resection is an independent risk factor for patient prognosis.
To compare the safety and outcomes between keyhole surgery and total laminectomy for resection of intradural extramedullary spinal cord tumors.
Retrospectively collected the clinical data of 102 patients with intradural extramedullary spinal cord tumors(≤3 cm) treated by surgery in Department of Orthopedics in Fujian Provincial Hospital from January 2014 to January 2017. Fifty cases underwent the keyhole surgery and the other 52 received total laminectomy. The operation time, volume of intraoperative bleeding, the leaving bed time, the length of postoperative hospital stay, drainage, postoperative complications, intraoperative neuroelectrophysiological monitoring (IONM), preoperative and postoperative visual analogue score (VAS), neck disability index (NDI), Oswestry disability index (ODI), McCormick spinal cord function grading were analyzed and compared between the two groups to evaluate the safety and clinical outcomes. The data of two groups were compared by t, χ 2 or rank sum test.
The keyhole group was followed up for (30±15) months and the total laminectomy group was followed up for (45±15) months. All the tumors were completely resected. All the incision healed well and no cerebrospinal fluid leakage occurred. There was no statistically significant differences in baseline data, operation time, the results of IONM, preoperative and 3 months, 6 months, 12 months postoperative VAS, NDI (cervical tumors), ODI (thoracic and lumbar tumors), McCormick spinal cord function grading, tumor recurrence between the two groups (all P>0.05). The keyhole group had less intraoperative bleeding than that in the total laminectomy group ((73±24) ml vs (136±26) ml, t=-12.610, P<0.05), earlier postoperative leaving bed time ((1.4±0.6) d vs (6.5±1.0) d, t=-31.822, P<0.05), and the postoperative hospital stay was shorter ((4.3±0.8) d vs (11.2±2.0) d, t=-22.319, P<0.05), and it was more advantageous in terms of drainage. The VAS, NDI and ODI in the keyhole group improved significantly compared with those in the total laminectomy group 2 weeks post operation (all P<0.05).
Compared with the total laminectomy, keyhole surgery is suitable for the treatment of intradural extramedullary spinal cord tumors with small size and limited location, and it is equivalently safe with faster functional recovery.
To investigate the accuracy and clinical efficacy of percutaneous pedicle screw placement under O-arm navigation and traditional fluoroscopy in patients with thoracolumbar fractures without neurological symptoms.
From July 2016 to July 2018, 72 patients with thoracolumbar fractures in Peking University International Hospital without neurological symptoms were divided into two groups, group A and group B. In group A, 36 patients underwent the surgery of percutaneous pedicle screw implantation under traditional fluoroscopy and 168 pedicle screws were inserted. In group B, 36 patients underwent the surgery of percutaneous pedicle screw implantation under O-arm guided fluoroscopy and 164 pedicle screws were inserted by the same surgeon. The general condition, operation condition, radiation dose, fluoroscopy time of single screw, screw placement time and accuracy, visual analogue score (VAS) score, Oswestry dysfunction index (ODI), kyphosis Cobb′s angle, anterior edge height of 1 week and 6 months after surgery were compared. The data were compared with paired t test between the two groups.
There was no significant differences between the two groups in general condition, intraoperative blood loss, length of hospital stay, VAS, ODI, kyphosis Cobb′s angle, and anterior edge height of the injured vertebra (all P>0.05). The operation time was (99±14) min in group A and (75±10) min in group B, the average screw setting time was (15.8±2.6) min in group A and (11.8±3.3) min in group B, the fluoroscopy time of each screw was (38.0±2.0) s in group A and (28.5±2.8) s in group B, the radiation dose of each surgery was (563±163) cGy/cm2 in group A and (378±70) cGy/cm2 in group B; the above-mentioned data of group A were all superior to those in group B and the differences between the two groups were all statistically significant (t=8.48, 5.73, 16.30, 6.25, all P<0.05). Rampersaud grading in group A was better than group B, and the differences between the two groups was statistically significant(χ2=12.2, P<0.05).
The O-arm navigation system could not only provide high-definition navigation images and achieve high-precision navigation operations, which is more accurate than traditional pedicle screws placement, but also contribute to the reconstruction of spinal stability and reduce radiation dose, pedicle screws placement and operating time.
To explore the effect of a delayed pedicle gastrocnemius muscle flap transposition for the treatment of a knee joint deep infection secondary to wound necrosis after total knee arthroplasty (TKA).
The clinical data of 7 patients treated in Shanxi Provincial People′s Hospital with a delayed pedicle gastrocnemius muscle flap transposition from December 2015 to September 2019 for wound necrosis, exposed prosthesis and deep infection of knee joint after TKA were analyzed retrospectively. Before the muscle flap transplantation, 5 of the patients had received at least one debridement but failed for relapse, and resulted in an exposed prostheses and infected knee joint. Four patients were positive in their wounds or joint exudates bacterial culture, while the other 3 patients were negative but only with an obvious purulent secretion. The radiographs in all of the patients had no signs of lucent peripheral to or sink of the prosthesis.
The patients were followed-up for a mean time of 16.5 months (7-39 months). The flap and skin graft survived uneventfully with no pain, sinus, fistula, edema, and hematoma occurred. The appearances of the legs were normal. Only 1 patient had a mild limp, and the others gained almost a normal gait. One of the patients recurred 5 months after the gastrocnemius muscle flap transposition, and a two-stage revision procedure was applied, that involving a prosthesis remove and vancomycin impregnated cement (4 grams of vancomycin powder mixed with forty grams of polymethylmethacrylate) spacer implanted, and a new prosthesis was re-implanted 6 months later. The assessment of Knee Society Score (KSS) graded as: 4 patients classified as excellence, 2 as fine, 1 as general.
Delayed pedicle gastrocnemius muscle flap transposition is an effective method for the complication of wound necrosis, deep infection, prosthesis exposure after TKA. This protocol was appropriate for those who have experienced a comparative long time of infection while had no signs of prosthesis loosening, and with which the implant may be salvaged, the defect be closed, and the infection be eradicated.
Bronchogenic cyst in thymus region is a rare case in clinic, but with the increase of chest CT examination year by year, the detection of thymus region occupied space also increased significantly, and the misdiagnosis rate of this disease is high. This study analyzed, summarized and summarized the preoperative chest CT findings of 121 patients with bronchogenic cysts in the thymus region confirmed by surgery and pathology, and found that their imaging findings have certain characteristics. Through CT plain scan combined with enhanced scan, recognize the typical morphology of the lesion and measure the CT value of the lesion, which can effectively improve the diagnostic accuracy of the disease.
This article reports a patient who was admitted to hospital due to "physical examination found left upper lung nodule for 3 years and hemoptysis for 5 weeks". During the course of the disease, the patient repeatedly developed massive hemoptysis. After multidisciplinary cooperation to save his life, he was finally diagnosed as myoepithelial cancer with mucormyx infection. This case suggests that certain special types of tumors that are slow growing may still cause fatal massive hemoptysis. If the same symptom occurs repeatedly during the course of the patient's disease, besides being considered related to the primary disease, other diseases related to the treatment should also be considered as secondary.
The descending thoracic vertebral artery is a branching variation emanating from the initial segment of the vertebral artery, which runs within the space of the costotransverse process in the upper chest. The anatomical characteristics of the descending thoracic vertebral artery were observed by three-dimensional reconstruction of cervical CT angiography in 3 patients. All 3 patients were unexpected findings by examination, of which 2 cases had bilateral variation and 1 case had unilateral variation. Because the descending thoracic vertebral artery can emit root medullary artery and bronchial artery, it has important clinical significance, and attention should be paid to recognition during surgery and interventional diagnosis and treatment.
Despite the advances in reperfusion therapy, the mortality rate of acute myocardial infarction (AMI), and the incidence of heart failure remain high, multiple cardioprotective strategies attempt to reduce reperfusion injury, reduce heart failure hospitalizations, and improve prognosis, but the clinical efficacy remains controversial. Cardiac magnetic resonance (CMR) imaging has been widely used to quantitatively evaluate myocardial injury, which provides an effective means for the evaluation of clinical interventions. This paper introduces the methods of quantitative evaluation of reperfusion injury, and emphasizes the research progress and future research directions of new cardioprotection strategies.
Noninvasive assessment of hepatic fibrosis is a hot topic in clinical research at present. Transient elastography, shear wave elastography, and magnetic resonance (MRI) elastography are increasingly used. Deep convolutional neural networks (DCNN) for CT and MRI images to evaluate liver fibrosis showed high diagnostic efficacy, while deep learning for B-mode ultrasound images was less reported. This study predicted liver fibrosis METAVIR score by establishing a deep convolutional neural network on B-mode ultrasound images. 13 608 ultrasound images from 3 446 patients in referral centers of two specialized institutions were collected for training DCNN. Patients underwent surgical resection, liver puncture biopsy or transient elastography, and the estimated METAVIR scores derived from pathological specimens or transient elastography were used as reference standards to establish a four-category model (F0 vs F1 vs F23 vs F4). The internal test set included 266 patients with 300 images and the external test set included 572 patients with 1,232 images. The results showed that the diagnostic accuracy of the four-category model in the internal and external test sets was 83.5% and 76.4%, respectively. The area under the operating characteristic curve (AUC) of subjects diagnosed with cirrhosis (F4) was 0.901 (95%) for the internal test set, respectivelyCI: 0.865~0.937), external test set 0.857 (95%CI：0.825~0.889）。 The AUC (0.857) of the DCNN used for the diagnosis of liver cirrhosis from the external test set was significantly higher than the diagnostic AUC of the 5 sonographers (AUC range 0.656 to 0.816;P<0.05）。
Stage T2 gallbladder cancer is further subdivided into stage T2a (peritoneal side) or stage T2b (hepatic side) depending on tumor location. Previous studies have suggested that liver resection can be avoided without affecting prognosis for peritoneal (T2a) tumors, but there is still a lack of reliable evidence. In order to explore the prognostic value of tumor location in stage T2 gallbladder cancer and to clarify the appropriate range of surgical resection, the study analyzed the clinical and pathological data of 937 patients undergoing surgery for gallbladder cancer in 14 hospitals in Korea, Japan, Chile and the United States. The results showed that the overall 5-year disease-free survival rate of patients was 70.6%, T2a was 74.5%, and T2b was 65.5% (P =0.028）。 Compared with cholecystectomy alone, extended cholecystectomy (gallbladder combined with liver resection) had a better 5-year disease-free survival rate (73.0% vs 61.5%;P =0.012）。 At T2a (76.5% vs. 66.1%;P =0.094) and T2b (68.2% vs. 56.2%;P =0.084) stage gallbladder cancer, the 5-year disease-free survival rate of extended cholecystectomy was slightly better than that of cholecystectomy alone. For patients undergoing extended cholecystectomy, 5-year disease-free survival was similar, including bedside liver wedge resection of the gallbladder and segment IVb/V liver resection (74.1% vs. 71.5%;P =0.720）。 Multivariate analysis indicated that the presence of clinical symptoms (HR=1.52，P =0.002), R1 resection (HR=1.96，P =0.004) and N1/N2 state (N1:HR=3.40，P<0.001； N2:HR=9.56，P<0.001) was an independent risk factor for recurrence. Among the recurrent patients, 70.8% had distant metastases. For stage T2 gallbladder cancer, tumor location is not an independent prognostic factor, and extended cholecystectomy is slightly better than simple cholecystectomy, so radical surgery should include liver resection and adequate lymph node dissection.
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