Application of single sperm sequencing for the preimplantation genetic testing of a Chinese family affected with Spinal muscular atrophy / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of single sperm sequencing in preimplantation genetic testing for monogenic disease (PGT-M).@*METHODS@#A Chinese couple with two children whom had died of Spinal muscular atrophy (SMA) and attended the Jiangxi Provincial Maternal and Child Health Care Hospital in June 2020 was selected as the subject. Eleven single sperm samples were isolated by mechanical immobilization and subjected to whole genome amplification. Real-time PCR and Sanger sequencing were used to detect the SMN1 variants in the single sperm samples. Genomic DNA of the wife, her parents and the husband, as well as one single sperm sample harboring the SMN1 variant and two single sperm samples without the variant were used for the linkage analysis. Targeted capture and high-throughput sequencing were carried out to test 100 single nucleotide polymorphisms distributed within 2 Mb up- and downstream the variant site. The haplotypes linked with the SMN1 variants were determined by linkage analysis. Blastocyst embryos were harvested after fertilizing by intracytoplasmic sperm injection. Cells from the trophoblasts of each embryo were biopsied and subjected to whole genome amplification and targeted capture and high-throughput sequencing to determine their carrier status. Chromosomal aneuploidy of wild-type embryos was excluded. An euploid embryo of high quality was transferred. Amniotic fluid sample was taken at 18 weeks of gestation to confirm the status of the fetus.@*RESULTS@#Genetic testing showed that the couple both had deletion of exons 7 ~ 8 of the SMN1 gene. The wife has inherited the deletion from her father, while the husband was de novo. The haplotypes of the husband were successfully constructed by single sperm sequencing. Preimplantation genetic testing has indicated that 5 embryos had harbored the heterozygous variant, 4 embryos were of the wild type, among which 3 were euploid. Prenatal diagnosis during the second trimester of pregnancy has confirmed that the fetus did not carry the deletion.@*CONCLUSION@#By single sperm sequencing and PGT-M, the birth of further affected child has been successfully avoided.

Treatment of iliac fracture combined anterior dislocation of the sacroiliac joint by the "ladder reduction method" / 中华骨科杂志

Objective:To investigate the clinical effect of "ladder reduction method" in the treatment of iliac fracture combined anterior dislocation of sacroiliac joint.Methods:The retrospective analysis was performed on 10 cases of iliac fracture combined anterior sacroiliac joint dislocation admitted to the Affiliated Hospital of Yunnan University from February 2010 to January 2022, among which 5 cases were males and 5 cases were females, aged ranging from 22 to 52 years, with an average age of 38.8 years. All patients were injured in car accidents including 5 cases of C1.2, 3 cases of C2, and 2 cases of C3 fractures according to Tile classification. All patients were treated with the "ladder reduction method" with plate and screw fixation. In the first step, 1-2 Schanz pins were inserted into the iliac crest to control the ilium, and the Schanz pins were appropriately pulled laterally; in the second step, the periosteal stripper was used to pry the reduction between the sacrum and ilium; in the third step, for the patients who still could not be reduced, a 2.5 mm diameter Kirschner wire was placed on the sacrum close to the iliac crest, and a periosteal stripper was inserted between the sacrum and iliac crest, with its tip against the Kirkner wire, and the iliac crest as the fulcrum for pry pulling to separate the two. In the fourth step, the pry was maintained, and then another 2.5 mm diameter Kirschner wire was placed on the sacrum close to the internal margin of the iliac bone. The periosteal stripper was continued to pry between the sacrum and the iliac bone, and the operation was repeated. At the same time, the anterior dislocation of the sacroiliac joint was reduced with traction of the lower limb. Postoperatively, the quality of reduction was evaluated by the Matta score, and the degree of functional recovery after pelvic fracture was evaluated by the Majeed score.Results:Four patients completed the reduction through the first and second steps, and 6 cases of refractory sacroiliac joint anterior dislocation were successfully reduced through the first to fourth steps. The fracture reduction time of 6 patients with refractory anterior sacroiliac joint dislocation was 39.67±3.09 min (range, 35-44 min), with intraoperative blood loss of 300.00±141.42 ml (range, 150-600 ml); in the other 4 cases, the fracture reduction time was 36.75±4.38 min (range, 30-42 min), and the intraoperative blood loss was 225.00±44.30 ml (range, 200-300 ml). All 10 patients were followed up for 12.9±3.7 months (range, 9-20 months). The anterior and posterior pelvic ring fractures were healed in all patients, and the fracture healing time was 12.77±1.62 weeks (range, 10.71-15.28 weeks). At the last follow-up, Matta evaluation was excellent in 5 cases, good in 1 case, and excellent in the other 4 cases. The Majeed scores of 6 cases were 86.50±6.08 points (range, 74-92 points), of which 5 cases were excellent and 1 case was good. The other 4 cases were 81.5±9.39 scores (range, 71-94), of which 2 were excellent and 2 were good.Conclusion:The "ladder reduction method" is a safe, effective and easy-to-operate method for the treatment of iliac fracture combined anterior dislocation of the sacroiliac joint, especially for refractory anterior dislocation of the sacroiliac joint, which can still obtain satisfactory curative effects.

Application of deep learning to identify recurrent laryngeal nerve in endoscopic thyroidectomy via breast approach / 中华内分泌外科杂志

Objective:To explore whether deep learning could apply to recognize the recurrent laryngeal nerve (RLN) in videos of endoscopic thyroidectomy (ETE) via breast approach.Methods:Videos of ETE via breast approach in Peking Union Medical College Hospital from Feb. 2020 to Aug. 2021 were collected. Videos containing RLN were selected, and the outline of RLN was marked by two thyroid surgeons. Then data were divided into a training set and a test set in a ratio of 5:1 and classified into the high and low difficulty group according to a senior thyroid surgeon’s opinion. Those pictures were input to D-LinkNet model. Precision, sensitivity and mean dice index was calculated.Results:A total of 46 videos including 153, 520 frames of pictures were included in this study. 131,039 frames of 39 videos were in the training set and 22,481 frames of 7 videos were in the test set. When the intersection over union threshold was 0.1, the sensitivity and precision was 92.9%/72.8% and 47.6%/54.9% in high and low recognition group, respectively. When the intersection over union threshold was 0.5, the sensitivity and precision turned to 85.8%/67.2% and 37.6%/43.5% in high and low difficulty group, respectively. Mean Dice index was 0.781 and 0.663 in high and low difficulty group, respectively.Conclusions:RLN recognition based on deep learning is feasible and has potential application value in ETE, which may help surgeons reduce the risk of accidental injury of RLN and improve the safety of thyroidectomy.

Pollution characteristics, source analysis, and risk assessment of metal and metalloid in PM2.5 of Shijiazhuang city / 中华预防医学杂志

In 2020, the mass concentration of PM2.5 in Shijiazhuang urban area was(80.30±71.43)μg/m3. The Spearman correlation analysis between metals and metalloids showed that Sb with Cd, Pb, Ni, Se, Cd with Pb, Ni, Se, Pb with Ni, Se, Ni with Se, and Se with Tl were positively correlated, with a coefficient greater than 0.5. The main sources of metals and metalloids of PM2.5 were traffic emissions, fuel combustion, metal smelting and dust. The HQ values of Pb, Hg and Mn for each population were less than 1, with lower non-carcinogenic risk. The R values of carcinogenic risk of Ni and Cd in each population were less than 1×10-6, which could be acceptable risk level for the population. The R values of carcinogenic risk of As and Cr in different populations were between 1×10-6 and 1×10-4, with potential carcinogenic risk, particularly higher in adult males.

The short-term and long-term prognostic analysis in patients with chronic total occlusion acute non-ST segment elevation myocardial infarction / 中华内科杂志

Objectives:To investigate the clinical impacts of chronic total occlusion (CTO) in acute non-ST segment elevation myocardial infarction (NSTEMI) patients underwent primary percutaneous coronary intervention (PCI).Methods:A total of 2 271 acute NSTEMI patients underwent primary PCI from China Acute Myocardial Infarction Registry were enrolled in this study and divided into the CTO group and the non-CTO group according to the angiography. The primary endpoint was in-hospital mortality and mortality during a 2-year follow-up. The secondary endpoint was major adverse cardiovascular events (MACE) including revascularization, death, re-myocardial infarction, heart failure readmission, stroke and major bleeding.Results:Thirteen-point four percent of the total acute NSTEMI patients had concurrent CTO. In-hospital mortality (3.6% vs. 1.4%, P<0.01) and 2-year mortality (9.0% vs. 5.1%, P<0.01) were significantly higher in the CTO group than those in the non-CTO group, respectively. Multiple regression analyses showed that chronic obstructive pulmonary disease ( HR 7.28, 95% CI 1.50-35.35, P=0.01) was an independent risk factor of in-hospital mortality, and advanced age ( HR 1.04, 95% CI 1.01-1.07, P<0.01), and low levels of ejection fraction ( HR 0.95, 95% CI 0.93-0.98, P<0.01) were independent risk factors of 2-year mortality. CTO ( HR1.67, 95% CI 1.10-2.54, P=0.02) was an independent risk factor of revascularization, but not a risk factor of mortality. Conclusions:Although acute NSTEMI patients concurrent with CTO had higher mortality, CTO was only an independent risk factor of revascularization, but not of mortality. Advanced age and low levels of ejection fraction were independent risk factors of long-term death among acute NSTEMI patients.

Exploration of deep learning to identify recurrent laryngeal nerve in endoscopic thyroidectomy via unilateral axillary approach / 中华内分泌外科杂志

Objective:To explore whether deep learning could apply to recognize the recurrent laryngeal nerve in the video of unilateral axillary approach endoscopic thyroidectomy.Methods:Videos of endoscopic thyroidectomy via unilateral axillary approach in Peking Union Medical College Hospital from Jul. 1st, 2020 to May. 1st, 2021 were collected. Videos containing the recurrent laryngeal nerve were selected, and the outline of recurrent laryngeal nerve were marked by two senior thyroid surgeons and staffs. Data were divided into training set and test set in a ratio of 5:1, and classified into high, medium and low recognition group according to difficulty of recognizing the outline of the nerve. The neuron network was based on PSPNet combined with Resnet50. All data were analyzed by R (ver. 4.0.2) .Results:A total of 38 videos including 35,501 frames of pictures were included in this study. 29, 704 frames of 32 videos were in our training set and 5797 frames of 6 videos were in the test set. When the intersection over union (IOU) threshold is 0.1, the sensitivity and precision is 100.0%/92.1%, 95.8%/80.2% and 81.0%/80.6% in high, medium and low recognition group respectively. When the IOU threshold is 0.5, the sensitivity and precision is 92.6%/85.3%, 71.7%/60.5% and 38.1%/37.9% in high, medium and low recognition group respectively, indicating that neuron network could located the outline of recurrent laryngeal nerve in high and medium recognition group. False negatives were often due to small targets and unclear boundaries.Conclusion:Recurrent laryngeal nerve recognition based on deep learning is feasible and has potential application value in endoscopic thyroidectomy, which may help surgeons reduce the risk of accidental injury of recurrent laryngeal nerve and improve the safety of thyroidectomy.

Arthroscopic debridement combined with platelet-rich plasma injection for the treatment of Kellgren-Lawrence gradeⅠ-Ⅲ knee osteoarthritis / 中国骨伤

OBJECTIVE@#To explore clinical effect of arthroscopic debridement combined with platelet-rich plasma (PRP) injection for Kellgren-Lawrence(K-L) gradeⅠ-Ⅲ knee osteoarthritis (KOA) .@*METHODS@#Totally 117 patients with KOA who underwent arthroscopic debridement combined with injection from November 2015 to January 2019 were retrospectively analyzed. According to different injection drugs, the patients were divided into sodium hyaluronate group(group A) and PRP group(group B). In group A, there were 60 patients, including 27 males and 33 females, aged from 49 to 67 years old with an average age of (54.1±4.8) years old;12 patients with gradeⅠ, 23 patients with gradeⅡand 25 patients with grade Ⅲ according to K-L clssification, 2 ml(20 g) sodium hyaluronate was injected into knee joint after intraoperative, 1, 2, 3 weeks after operation for 4 times. In group B, there were 57 patients, including 25 males and 32 females, aged from 47 to 70 years old with an average of (55.8±5.0) years old, 10 patients with gradeⅠ, 20 patients with gradeⅡand 27 patients with grade Ⅲ according to K-L classification, injected 5 ml PRP at the same time. Postoperative complications was recorded between two groups. Postoperative visual analogue scale(VAS) and Lysholm score at 3, 6, 12 months were used to evaluate improvement of knee pain and joint function.@*RESULTS@#All patients were followed up for 12 to 19 months with an average of (14.1±1.6) months. There was no significant difference in postopertaive complications between group A and group B (P>0.05). Postoperative VAS score in group A at 3, 6, 12 months were 3.0±0.8, 2.0±0.8, 2.6±0.9 respectively, and 2.9±0.8, 1.9±0.7, 2.2±0.8 in group B respectively; and no differnece at 3 and 6 months after operation between two groups (P<0.05), while VAS score in group B was higher than group A at 12 months after operation(P<0.05). Postoperative Lysholm score in group A at 1, 6, 12 months (86.6±1.8, 93.1±2.0, 86.7±1.7) were lower than group B(88.9±1.9, 95.0±2.0, 89.0±1.9)(P<0.05).@*CONCLUSION@#Arthroscopic debridement combined with sodium hyaluronate or PRP injection for K-L gradeⅠ-Ⅲ KOA could effectively relieve pain and improve joint function with higher safety in short term, but the medium-long-term effect of PRP injection is stable.

Preoperative enema in patients with pelvic or acetabular fracture: a cross sectional survey / 中华创伤骨科杂志

Objective:To investigate the current situation of preoperative enema in patients with pelvic or acetabular fracture and how orthopedists think about enema as a preoperative preparation so as to provide clinical guidance.Methods:In a cross-sectional survey conducted in September 2019 in the form of Wechat Questionnaire Star, a questionnaire was sent to 1,000 orthopedists all over the country. The items surveyed included the professional title and the hospital level of the participants. The questions asked included: 1. Will enema be performed for a patient with pelvic or acetabular fracture before surgery? 2. If enema is given to a patient before surgery, what method will you choose? 3. What is your purpose of preoperative enema for patients? 4. What are your reasons for not giving a patient enema before surgery? Stratified analysis was conducted by the hospital levels of the participants.Results:A total of 704 orthopedists from all over the country completed the present survey. The questionnaires finished came from 506 (71.88%, 506/704) tertiary hospitals and 198 (28.13%, 198/704) secondary hospitals. The survey showed that 41.90% of the orthopedists (295/704) would give their patients enema before surgery, 26.99% (190/704) would not and 31.11% (219/704) would not necessarily. The main purpose of enema in the orthopedists who advocated enema was to eliminate intestinal gas so as to make intraoperative fluoroscopy more clearly (77.04%, 396/514); the main reason against this measure in those who did not support enema was that it would increase the pain of patients (76.84%, 146/190). Compared with the tertiary hospitals, a higher proportion of orthopedists in the secondary hospitals would perform preoperative enema and choose mechanical enema. Moreover, a higher proportion of orthopedists in the secondary hospitals believed that enema could reduce complications and make intraoperative fluoroscopy clearer.Conclusion:At present, a number of orthopedists in China, especially those in a tertiary hospital, do not give their patients enema before surgery of pelvic or acetabular fracture.

Construction and practice of music quality education course group in medical colleges from the perspective of humanistic education / 中华医学教育探索杂志

Based on the perspective of medical humanities, the function of music quality education is discussed from four aspects: enhancing aesthetic accomplishment, improving comprehensive quality, shaping good spiritual character and promoting mental health. Combing and perfecting the teaching contents, teaching modes, teaching methods and assessment schemes of music quality education course group in medical colleges and universities, could gain recognition from higher education experts, medical education experts, higher music education peers, medical undergraduates and medical postgraduates, which provides reference for the theory and practice of music quality education in medical colleges and universities.

Trans-base and trans-vault low-velocity penetrating brain injury: A retrospective comparative study of characteristics, treatment, and outcomes / 中华创伤杂志(英文版)

PURPOSE@#Low-velocity penetrating brain injury (LVPBI) caused by foreign bodies can pose life-threatening emergencies. Their complexity and lack of validated classification data have prevented standardization of clinical management. We aimed to compare the trans-base and trans-vault phenotypes of LVPBI to help provide guidance for clinical decision-making of such injury type.@*METHODS@#A retrospective study on LVPBI patients managed at our institution from November 2013 to March 2020 was conducted. We included LVPBI patients admitted for the first time for surgery, and excluded those with multiple injuries, gunshot wounds, pregnancy, severe blunt head trauma, etc. Patients were categorized into trans-base and trans-vault LVPBI groups based on the penetration pathway. Discharged patients were followed up by outpatient visit or telephone. The data were entered into the Electronic Medical Record system by clinicians, and subsequently derived by researchers. The demography and injury characteristics, treatment protocols, complications, and outcomes were analyzed and compared between the two groups. A t-test was used for analysis of normally distributed data, and a Mann-Whitney U test for non-parametric data. A generalized linear model was further established to determine whether the factors length of stay and performance scale score were influenced by each factor.@*RESULTS@#A total of 27 LVPBI patients were included in this analysis, comprised of 13 (48.1%) trans-base cases and 14 (51.9%) trans-vault cases. Statistical analyses suggested that trans-base LVPBI was correlated with deeper wounds; while the trans-vault phenotype was correlated with injury by metal foreign bodies. There was no difference in Glasgow Coma Scale score and the risk of intracranial hemorrhage between the two groups. Surgical approaches in the trans-base LVPBI group included subfrontal (n = 5, 38.5%), subtemporal (n = 5, 38.5%), lateral fissure (n = 2, 15.4%), and distal lateral (n = 1, 7.7%). All patients in the trans-vault group underwent a brain convex approach using the foreign body as reference (n = 14, 100%). Moreover, the two groups differed in application prerequisites for intracranial pressure monitoring and vessel-related treatment. Trans-base LVPBI was associated with higher rates of cranial nerve and major vessel injuries; in contrast, trans-vault LVPBI was associated with lower functional outcome scores.@*CONCLUSION@#Our findings suggest that trans-base and trans-vault LVPBIs differ in terms of characteristics, treatment, and outcomes. Further understanding of these differences may help guide clinical decisions and contribute to a better management of LVPBIs.

The acute and long-term outcome of patients with ST segment elevation myocardial infarction concurrent with chronic total occlusion / 中华心血管病杂志

Objective: To evaluate the acute and long-term outcome of patients with ST segment elevation myocardial infarction (STEMI) concurrent with chronic total occlusion (CTO) undergoing primary percutaneous coronary intervention (PCI). Methods: 11 905 STEMI patients from the China Acute Myocardial Infarction Registry were enrolled in this study and divided into CTO group and non-CTO group according to the angiography results of primary PCI. 1∶3 propensity score matching was used to match the patients between the two groups. The primary endpoint was in-hospital mortality and mortality at 1-year post PCI. The secondary endpoint was major adverse cardiovascular events (MACE) including death, re-myocardial infarction, revascularization, heart failure associated readmission, stroke and major bleeding at 1-year post PCI. Results: There were 931 CTO patients (7.8%) in this cohort (male=755 (81.1%), mean age (62.2±11.4 years)). The rest 10 974 patients were STEMI without CTO (male=8 829 (80.5%),mean age (60.0±11.8) years). After propensity score matching, 896 patients were enrolled in CTO group and 2 688 in non-CTO group. In-hospital mortality was significantly higher in the CTO group than in non-CTO group (4.2% vs. 2.4%, P=0.006). The ratio of all cause death, cardiac death, and MACE at 1-year follow up was also significantly higher in the CTO group than in non-CTO group (8.5% vs. 4.4%, P<0.001, 5.3% vs. 2.6%, P=0.001, 35.1% vs. 23.3%, P<0.001, respectively). Multiple regression analysis showed that CTO (HR=1.54, 95%CI 1.06-2.22, P=0.022), advanced age (HR=1.06, 95%CI 1.04-1.08, P<0.001), and previous heart failure history (HR=4.10, 95%CI 1.90-8.83, P<0.001) were independent risk factors of 1-year mortality. Conclusions: The in-hospital and 1-year mortality increased significantly in STEMI patients concurrent with CTO. CTO, advanced age and history of heart failure are independent risk factors of 1-year death among STEMI patients.

On the reform of integrated medical education from the national staged examination of clinical physician qualification / 中华医学教育探索杂志

Objective:To provide a reference for integrated medical education reform in medical colleges by analyzing the scores of National Staged Examination of Clinical Physician Qualification (NSECPQ).Methods:The NSECPQ scores of our students in 2019 were analyzed by hypothesis testing. Chi-test was used to compare the pass rate of the examination, and the t-test was used to compare the total scores, the average mastery of disciplines and the average mastery of the system. Results:The total scores and pass rate of the examination of the students in the framework of integrated medicine education were significantly higher than those in traditional medical education. There was no significant difference in the scores of some subjects between the two educational frameworks, the scores of some subjects of the students in the framework of integrated medicine education were even lower than those in traditional medical education. For example, under the integrated medical education mode, the students' average mastery of obstetrics is 4.04 points, slightly lower than the students under the traditional medical education mode (4.11 points). It shows that the reform of integrated medical education still has some shortcomings in the teaching of some disciplines and systems.Conclusion:When implementing the teaching reform of integrated medical education in medical colleges, special attention should be paid to comparing the examination syllabus of clinical physician qualification, reasonably arranging the teaching contents of integrated medical courses, and strengthening the training of teaching staff and the construction of teaching teams, so as to ensure the teaching quality of integrated medical education reform.

miR-342-3p regulates thyroid cancer cell proliferation, migration and invasion by targeting Bcl-2 / 中华内分泌外科杂志

Objective:To investigate the effects of miR-342-3p on proliferation, migration and invasion of thyroid cancer cells and its potential mechanism.Methods:The expression levels of miR-342-3p in human thyroid cancer cell lines (FTC-133, TPC-1, BCPAP and SW1736) and human thyroid follicular epithelial cells (Nthy-ori3-1) were detected by qRT-PCR. Lipofectamine 2000 was used to transfect the FTC-133 cells in the logarithmic growth phase with miR-342-3p mimics (miR-342-3p mimics group) , negative control (miR-NC group) and FTC-133 cells without any transfection (Control group) . qRT-PCR was used to detect the mRNA level of miR-342-3p in each group after transfection to verify the transfection efficiency. CCK-8 assay was used to detect cell proliferation activity. Wound-healing assay and transwell assay were performed to evaluate cell migration and invasion. The dual luciferase reporter assay was used to verify the targeted regulation of Bcl-2 by miR-342-3p. The mRNA and protein expression levels of Bcl-2 were detected by qRT-PCR and Western blot.Results:The expression level of miR-342-3p in thyroid cancer cell lines was significantly lower than that of Nthy-ori3-1 cells ( F=5.732, P=0.011) . Compared with Control and miR-NC groups, the expression level of miR-342-3p was significantly increased ( F=8.613, P=0.003) , the proliferation activity of pcdna3.0-bcl-2 group was significantly increased ( F=11.257, P<0.001) , TP53 protein level was significantly decreased in pcdna3.0-bcl-2 group ( F=9.872, P=0.004) , and the level of TP53 protein in mir-342-3p mimics group was significantly increased ( F=12.548, P<0.001) . Conclusions:miR-342-3p mimics inhibits the proliferation, migration and invasion of FTC-133 cells by targeting and inhibiting Bcl-2 expression, which is expected to be a new target for diagnosis and treatment of thyroid cancer.

Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with N-acetylglutamate synthase deficiency / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with N-acetylglutamate synthase deficiency.@*METHODS@#Trio whole exome sequencing (WES) was carried out for the pedigree. Pathogenicity of the identified variant was predicted based on the latest recommendation of the American College of Medical Genetics and Genomics (ACMG). Prenatal diagnosis was provided for subsequent pregnancy through Sanger sequencing.@*RESULTS@#Trio WES showed that the proband has carried compound heterozygous c.68delG and c.796G>C variants of NAGS gene, for which the mother and father were respectively heterozygous carriers. Neither variant was reported previously. Based on the ACMG guidelines, the c.68delG variant was classified as "likely pathogenic" (PVS1+PM2), while the c.796G>C variant was classified as with "uncertain significance" (PM2+BP4). Sanger sequencing validated the above findings, and only detected the heterozygous c.796G>C variant in the amniotic fluid sample. The fetus was followed up till 6 month after birth with no obvious abnormality.@*CONCLUSION@#The compound heterozygous c.68delG and c.796G>C variants of the NAGS gene probably underlay the disorder in this pedigree, and the resulth asenabled genetic counseling and prenatal diagnosis for this pedigree.

Retrospective analysis of clinical pathology status of minor differentiated thyroid cancer / 中华外科杂志

Objective@#To analyze the clinical pathology status of minor differentiated thyroid cancer (DTC).@*Methods@#The clinical pathology data of 107 cases of DTC patients aging≤18 years old who accepted operations at Department of General Surgery, Peking Union Medical College Hospital from January 2000 to December 2016 were collected. There were 27 males and 80 females, aged (15.4±2.7) years (range: 6 to 18 years). And a randomly selected sample′s data was collected as control group, concluded 110 adult DTC patients. There were 35 males and 75 females, aged (43.2±11.8) years (range: 21 to 77 years). The clinical and pathological data of the two groups were retrospectively analyzed. The t test, Mann-Whitney U test, χ2 test and Fisher exact test was used to analyze the data, respectively.@*Results@#The minor patients had larger diameter of tumors ((16.5±9.9) mm vs. (8.7±5.1) mm, t=7.369, P=0.000), higher rate of lymph node metastasis (68.2% vs. 50.0%, χ2=7.446, P=0.006) and higher rate of lateral lymph node metastasis (36.4% vs. 11.8%, χ2=18.059, P=0.000) than adult patients. The rate of lateral lymph node metastasis was significantly higher when minor presented multiple fociin primary lesions (54.3% vs. 27.8%, χ2=7.144, P=0.008) than those with single foci lesions. Adult patients presented more capsular invasion than minor patients in primary lesions (55.6% vs. 19.2%, χ2=28.942, P=0.000).@*Conclusions@#The minor DTC patients present more progress disease status when they receive operations compared with the adult DTC patients. Minor DTC patients appeared as multiple foci should be alert to lateral lymph node metastasis.

Clinicopathologic features and risk factors for lymph node metastasis of papillary thyroid carcinoma with chronic lymphocytic thyroiditis / 中华普通外科杂志

Objective To summarize clinicopathologic features of papillary thyroid carcinoma (PTC) coexistent with chronic lymphocytic thyroiditis (CLT) and investigate risk factors for lymph node metastasis.Methods The medical records of 4 264 consecutive papillary thyroid carcinoma patients who received surgical treatment from Oct 2013 to Oct 2015 in Peking Union Medical College Hospital were reviewed.The diagnoses was confirmed by histopathological tests.Univariate analysis was performed to identify specific clinicopathologic features of PTC with CLT.Univariate and multivariate analysis were performed to determine whether each clinicopathologic feature was an independent risk factor for lymph node metastasis.Results In all 4 265 cases,there were 3 059 papillary thyroid microcarcinoma (PTMC) (71.7％),1 010 PTC patients (23.7％) with CLT.909 female patients (90％),624 cases with multifocal lesions (61.8％),422 cases with extra-thyroid extension (41.8％),429 cases with lymph node metastasis (42.5％),and 133 cases with metastatic lymph nodes(LNs) ≥6 (13.2％).The median age was 43 years old and median tumor size was 0.8 cm.Patients with CLT were more females (90.0％ vs.70.2％;P ＜ 0.001),younger median age (43 vs.44 years;P =0.001),and lower incidence of lymph node metastasis (42.5％ vs.50.9％;P ＜0.001).CLT was not associated with tumor size,multifocal lesions,extra-thyroid extension and metastatic LNs≥6 (0.8 cm vs.0.7 cm,61.8％ vs.62.9％,41.8％ vs.42.1％ and 13.2％ vs.14.8％,respectively,all P ＞ 0.05).In multivariate analysis,CLT was an independent protective factor for lymph node metastasis (OR =0.713,95％ CI 0.609-0.835,P ＜0.001).In PTC patients with lymph node metastasis,CLT was not associated with lymph node metastasis number (3 vs.3,P =0.300).Conclusions Chronic lymphocytic thyroiditis was an independent protective factor for papillary thyroid carcinoma patients with lymph node metastasis.But in patients with lymph node metastasis,the metastatic number didn't decrease.

The diagnosis and treatment of early inflammatory bowel obstruction after operation / 中国基层医药

Objective@#To investigate the diagnosis and treatment effect of early inflammatory bowel obstruction after operation.@*Methods@#The clinical data of 20 patients with early inflammatory bowel obstruction were analyzed.The therapeutic effect was analyzed.@*Results@#20 patients were treated with significant improvement in abdominal pain and abdominal distention, and gastrointestinal decompression volume was (221.6±138.6)mL/d.Patients with abdominal flat tablet showed that the intestinal canal was significantly reduced or disappeared, and all patients were cured and discharged.@*Conclusion@#For the patients with early inflammatory intestinal obstruction after operation, we should pay close attention to the clinical response of patients, adopt comprehensive treatment to relieve patients' pain.

Pig IFITMs are restriction factors for Japanese encephalitis virus

Objective:Japanese encephalitis virus (JEV) is responsible for one of the most serious epidemics of encephalitis in the world. JEV uses pigs as its main hosts and spreads among vertebrates and humans mediated by Culex mosquitoes. The prevention and control of JEV spread in pigs is one of the most effective measures to protect global public health. Interferon-inducible transmembrane proteins (IFITMs) are small membrane-spanning proteins that were identified as innate antiviral factors against multiple pathogenic viruses, especially enveloped viral pathogens. This study aims to verify whether pig interferon-inducible transmembrane proteins (pIFITMs) inhibit JEV and investigate the related molecular mechanisms of anti-JEV.Methods:Transient expression and RNA interference technology were used to overexpress and silence IFITMs gene. Three different cell lines, PK15, HEK293 and Huh7, were transfected with recombinant pIFITMs-expressing plasmids. The lentiviral vectors harboring RNAi sequences targeting pIFITMs were introduced into PK15 cells. Quantitative real-time PCR was used to determine the antiviral activities of pIFITMs through measuring and analyzing the virus copy number of JEV (SA14-14-2 strain) in the supernant of pIFITMs overexpression or silencing cells 48 hours post transfection. The expression of the related proteins was examined by western blot. The fusion vectors inserted with pig IFITM1-EGFP were constructed and introduced into three different cell lines respectively. Then Laser Co-focus light microscopy was used to observe the subcellular localization. The key active amino acids of pIFITM1 were analyzed by investigating the anti-JEV effect of the cysteine mutants produced with PCR site directed mutagenesistechnology.Results:In three different cell lines, PK15, HEK293 and Huh7, all of three pig IFITM proteins, pIFITM1, pIFITM2, and pIFITM3 could inhibit the replication of JEV whether through transient gene over-expression methods or RNA interference silencing. And that, among three pig IFITMs, pIFITM1 showed the strongest anti-JEV effect. The anti-JEV activity of pIFITM1 manifested at the early entry stage. In PK15, BHK21, and HEK293 cells, before virus infection, pIFITM1 was located in the plasma membrane area, and after infection, transferred to the membranous structures outside the nucleus. The S-palmitoylated cysteines at position 50, 51 and 84 of pIFITM1 had significant effect on virus replication.Conclusions:Pig interferon-inducible transmembrane proteins are restriction factors for JEV infection and have potentials in the prevention of virus spread. Our results provide some new sights into understanding the antiviral activity of pig IFITMs.

Anterior fixation with oblique-ilioischial plate for acetabular fractures of lower posterior column / 中华创伤骨科杂志

Objective To investigate the effectiveness of anterior fixation with an oblique-ilioischial plate for acetabular fractures of lower posterior column.Methods A consecutive series of 7 patients were retrospectively reviewed who had been treated operatively from August 2016 to July 2017 for acetabular fractures of lower posterior column.They were 4 men and 3 women,aged from 45 to 62 years (average,48.6 years).The injury was caused by a traffic accident in 4 cases and by falling from a height in 3.By the Letournel-Judet classification,there were one case of transverse fracture,3 cases of T-shaped fracture,2 cases of anterior + posterior hemitransverse fracture and one case of associated both column fracture.The intervals from injury to operation ranged from 6 to 19 days (average,7 days).All of them were treated by the modified Stoppa approach (or combined with an iliac fossa approach).The anterior column was stabilized with a reconstruction plate for the iliac wing along the iliopectineal line to the pubis in all cases.The lower posterior column was fixated with a newly developed oblique-ilioischial plate running from the ilium to the ischial ramus.Operative time,intraoperative blood loss,reduction quality and postoperative function of the affected hip were recorded.Results The operative time for this cohort ranged from 1.0 to 3.2 h (average,2.1 h) and the intraoperative blood loss from 200 to 500 mL (average,300 mL).The postoperative reduction was rated by the Matta's criteria as excellent in 5 cases,as good in one and as fair in one.This cohort was followed up for 7 months (from 6 to 9 months).At the final follow-up,the hip function was rated by the modified Merle d'Aubigne-Postel scale as excellent in 5 cases,as good in one and as fair in one.Fracture healing was achieved in all the patients after 3 to 6 months (average,4.5 months).No implant failure,infection,heterotopic ossification or neurovascular injury occurred during the follow-up.Conclusion Anterior fixation with an oblique-ilioischial plate via the modified Stoppa approach or combined with an iliac fossa approach is a good treatment for acetabular fractures involving the lower column,due to its advantages of reliable fixation,limited invasion,little intraoperative bleeding and few complications.

Crosstalk of Hedgehog/Gli and PI3k/Akt Pathway Promotes Epithelial-mesenchymal Transition in Gastric Adenocarcinoma / 中国医科大学学报

Objective To investigate the tumor molecular mechanism of Hedgehog/Gli in promoting the epithelial-mesenchymal transition (EMT) in gastric cancer AZ521 cells. Methods After 24 h of treatment with GANT61,the mRNA expression of Gli1,Gli2, N-cadherin,and E-cadherin in the AZ521 cell line were detected by real-time fluorescence quantitative PCR. A Western blotting assay was conducted to determine the expression of the above cytokines,p-AKT and AKT. The effect of GANT61 on invasion was observed by transwell assay. N-Shh stimulation of the Hedgehog pathway was conducted to confirm the changes in these cytokines. Results GANT61 significantly downregulated the mRNA expression of Gli1,Gli2,and N-cadherin,but upregulated E-cadherin mRNA expression. The Western blotting assay revealed that GANT61 downregulated the protein expression of Gli1,Gli2,p-AKT,and N-cadherin,but upregulated E-cadherin expression. Furthermore,GANT61 inhibited the invasion. N-Shh proteins up-regulated Gli1,Gli2,and N-cadherin mRNA,protein expression and p-AKT protein expression,but downregulated E-cadherin mRNA and protein expressions. N-Shh promoted the invasion of tumor cells. Conclusion Downregulation of Gli1 and Gli2 can inhibit the invasion and metastasis in gastric cancer cells,which may be related to the promotion of EMT by Gli through the PI3K/AKT pathway.