Direct-to-implant breast reconstruction after bilateral mastectomy: A comparison between endoscopic and conventional open surgery / 中国胸心血管外科临床杂志

@#Objective    To compare the differences of clinical effects between the bilateral endoscopic breast reconstruction and the open breast reconstruction. Methods    The clinical data of 28 female patients who underwent bilateral breast graft reconstruction in the Department of Breast Surgery of West China Hospital from January 2017 to January 2021 were analyzed retrospectively. The patients were divided into two groups: an endoscopic group (n=12, aged 41.3±8.9 years) and an open group (n=16, aged 41.6±8.8 years). The clinical data of the two groups of patients were compared. Results     There was no significant difference in demographic and oncological data between the two groups (P>0.05). There was a significant difference in the implants between the two groups (P=0.008). The operation time (298.2±108.6 min vs. 326.5±95.8 min, P=0.480) and anesthesia time (373.4±91.2 min vs. 400.3±97.1 min, P=0.463) were not significantly different. The total complications (P=0.035) and major complications (P=0.024) in the open group were more than those in the endoscopic group. For the comparison of breast satisfaction, psychosocial well-being and sexual well-being, the scores at six months and one year after surgery were higher in the endoscopic group than those in the open group (P<0.05). Conclusion    The endoscopic reconstruction is safe and effective, with high satisfaction rates regarding  breast reconstruction and quality of life, and is superior to conventional open surgery.

Value of Reduced Field-of-view DWI in Quantitative Assessment of Axial Spondyloarthritis / 中山大学学报(医学科学版)

ObjectiveTo investigate the value of reduced field-of-view DWI （r-FOV DWI） in quantitative assessment of axial spondyloarthritis. MethodsA total of 112 patients with chronic back pain or suspected axial spondyloarthritis receiving full field-of-view DWI （f-FOV DWI） and reduced field-of-view DWI （r-FOV DWI） from December 2019 to December 2021 were enrolled. Next， subjective image quality assessment （anatomical detail， artifacts， distortion， overall image quality） and objective image quality assessment including （signal to noise ratio and contrast to noise ratio） were conducted by two experienced radiologists. In addition， the Apparent Diffusion Coefficient （ADC） values of three groups （active group， inactive group， and control group） on the two DWI sequences were measured by the two radiologists， respectively. Finally， the consistency of measurement between the two researchers was evaluated and the differences in ADC values was compared. Results102 patients were included and were divided into three groups， including the active group （n=32）， inactive group （n=29）， and control group （n=41） according to ASAS diagnostic criteria. All subjective and objective image quality metrics were rated in favor of r-FOV DWI images compared with f-FOV DWI images ［overall image quality： DWI 4（3~4） vs. 3（3~3） and SNR： 6.58（5.05~10.38） vs. 4.46（2.37~10.04）， CNR： 2.04（-1.14~8.29） vs. 0.97（-8.19~7.12）；P＜0.05］. Inter-rater consistency of the two researchers were 0.60~0.74. According to the AUC curve， group inactive vs. control showed r-FOV DWI was better than f-FOV DWI. In other groups （lesion vs. control， active vs. inactive）， there were no differences between both sequences（P＜0.05）. ConclusionThe subjective image quality score and signal to noise ratio of r-FOV DWI were higher than those of f-FOV DWI， which could be used for quantitative assessment of axial spondyloarthritis.

Risk Factors Analysis and Prevention Strategy of Renke Space Edema Complicated with Vocal Cord Adhesion After CO2 Laser Resection / 中山大学学报(医学科学版)

ObjectiveTo investigate the prevention strategy of bilateral vocal cord adhesion after simultaneous Renke space edema resection under CO2 laser. MethodsSeventy patients who underwent CO2 laser resection of bilateral Renke space edema of vocal cords from June 2018 to June 2021 in our hospital were retrospectively selected for this study. According to their postoperative vocal cord adhesion， patients were divided into vocal cord adhesion group （35 cases） and silent band adhesion group （35 cases）， and the general data of the two groups were compared. Multivariate logistic regression analysis was used to evaluate the risk factors for postoperative vocal cord adhesion. The prediction model of postoperative morbidity risk of vocal cord adhesion was established by using chisquared automatic interaction detection （CHAID） classification tree algorithm， and the application value of the model was evaluated by benefit graph and index graph. ResultsMultivariate analysis showed that surgical range and depth of Ⅱ， laser power≥5 W and anterior connection involvement were the risk factors for postoperative vocal cord adhesion ［OR 95%CI： 6.113 （2.346， 17.451）； 5.214 （1.469， 15.263）； 18.651 （1.689， 36.203）］. The classification tree model showed that anterior articulation involvement was an important predictor of postoperative vocal cord adhesion （76.92%； χ2=11.993， P=0.001）， and the benefit graph and index graph showed good models. ConclusionClinical attention should be paid to surgical scope and depth， laser power and anterior union involvement， and timely prevention strategies should be formulated to reduce the risk of vocal cord adhesion in patients.

Effect of occupational aluminum exposure on the visuospatialconstruction ability / 预防医学

Objective@#To examine the correlation between visuospatial construction ability and occupational aluminum exposure among aluminum workers, so as to provide the evidence for early protection of occupational injury among aluminum workers.@*Methods@#A total of 442 workers in an aluminum factory in Shanxi Province were selected using a cluster sampling method, and participants' demographic features and occupational history were collected. The blood aluminum concentration was measured using inductively coupled plasma mass spectrometry (ICP-MS), and the visuospatial construction ability was evaluated with the Cube Copying Test (CCT) of the Chinese version of the Montreal Cognitive Assessment (MoCA). The correlation between the visuospatial construction ability and blood aluminum concentration was examined using a multivariable logistic regression model.@*Results@#A total of 442 aluminum workers were enrolled, and all participants were male, with a mean age of (43.40±7.31) years, labor service duration of (23.64±8.35) years and a mean blood aluminum concentration of 33.87 µg/L. Of all participants, there were 206 workers with impaired visuospatial construction ability (46.61%), including 127 workers with blood aluminum concentrations of >33.87 µg/L (61.65%); 190 workers with educational duration of 6 to 9 years (92.23%), 118 electrolytic aluminum workers (57.28%), 114 workers with work shifts (55.34%), and 123 workers with a very good sleep quality (59.71%). Multivariable logistic regression analysis revealed that blood aluminum concentrations of >33.87 µg/L (OR=2.490, 95%CI: 1.531-4.052), educational duration of 6 years or more (OR: 0.075-0.246, 95%CI: 0.015-0.622), work type as a non-electrolytic aluminum worker (OR=0.838, 95%CI: 0.425-0.987), work shift (OR=1.179, 95%CI: 1.078-1.435) and a very good sleep quality (OR=0.104, 95%CI: 0.012-0.896) significantly correlated with impaired visuospatial construction ability among aluminum worker.@*Conclusion@#Impaired visuospatial construction ability correlates with occupational aluminum exposure among aluminum workers.

Study of clinical characteristics in patients with gp210 antibody-positive primary biliary cholangitis / 中华肝脏病杂志

Objective: To analyze the clinical characteristics and prognostic value of liver function in a large samples of patients with anti-glycoprotein 210 (gp210 antibody) positive primary biliary cholangitis (PBC). Methods: A retrospective study was performed on 931 PBC cases in Beijing You'an Hospital affiliated to Capital Medical University from 2010 to 2019. According to the detection of gp210 antibody, 318 cases were divided into gp210 antibody positive group (positive group) and 613 cases were divided into gp210 antibody negative group (negative group). The differences in demographic, medical history, clinical indicators, B-ultrasound and pathological indicators as well as the histopathological basis were compared between the two groups. SPSS 16.0 software was used for statistical analysis. Measurement data were analyzed by t-test or rank sum test, and enumeration data by χ2 test. Multivariate analysis was used for logistic test, and and survival analysis was used for prognosis. Results: The positive and the negative groups were compared. The ratio of male to female was significantly higher in positive than negative group (1:5.35 vs. 1:9.73, P＜0.05), and the difference was statistically significant. The proportion of hormone use in history of past diagnosed and treated was higher in positive than negative group (12.9% vs. 3.47%, P＜0.05), and the difference was statistically significant. The detection of biochemical indexes such as alanine aminotransferase (ALT), aspartate aminotransferase (AST), total bilirubin (TBIL), alkaline phosphatase (ALP), glutamyl transpeptidase (GGT) were higher in positive than the negative group (51.1 U/L vs. 41.1 U/L, 62.6 U/L vs. 49.6 U/L, 24.1 μmol/L vs. 17.9 μmol/L, 228.3 U/L vs. 169.6 U/L, 203.9 U/L vs. 147.6 U/L), (P＜0.05), and the differences were statistically significant. Antinuclear antibody (ANA)-positive rate, high titer ratio and immunoglobulin G (IgG) levels were higher in positive than negative group (95.2% vs. 81.6%, 69.7% vs. 48.8%, 17.2 g/L vs. 16.2 g/L), (P＜0.05), and the differences were statistically significant. The incidence of liver failure was higher in positive than negative group (P＜0.05). CK7 and inflammation score were higher in positive group than negative group in liver histopathological observations (0.83±0.53 vs. 0.28±0.47; 1.06±0.39 vs. 0.54±0.65), (P＜0.05), and the differences were statistically significant. Conclusion: The illness condition of patients with gp210 antibody positive PBC is more severe than patients with gp210 antibody negative PBC, and the incidence of liver failure is significantly increased. Cholangiocytes may be the histopathological basis of the clinical characteristics of gp210 antibody positive PBC patients.

Clinicopathological features of mature T/NK cell lymphoma with aberrant CD20 or CD79α expression / 中华病理学杂志

Objective: To investigate the clinicopathological characteristics and prognosis of mature T/NK cell lymphomas with aberrant CD20 or CD79α expression. Methods: A retrospective analysis of 641 cases of mature T/NK cell lymphoma diagnosed from January 2014 to December 2020 was performed, and 14 cases of CD20-positive and one case of CD79α-positive mature T/NK-cell lymphoma were identified. Histological examination, immunohistochemical characterization, in situ hybridization for Epstein-Barr virus encoded early RNA (EBER), and PCR testing for immunoglobulin and T cell receptor (TCR) gene rearrangements were performed. Clinicopathological characteristics of these lymphomas were analyzed. Results: There were 13 males and 2 females, with a median age of 56 years. There were 8 cases of peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS), 3 cases of extranodal NK/T-cell lymphoma, nasal type (ENKTCL), 2 cases of monomorphic epitheliotropic intestinal T-cell lymphoma (MEITL) and 2 cases of angioimmunoblastic T-cell lymphoma (AITL). Twelve cases were stage Ⅲ or Ⅳ lymphomas. The prognosis was overall poor. The histology, immunophenotype and TCR gene rearrangement were not significantly different from the corresponding types of lymphoma. Ki-67 proliferation index was over 70% in all cases. The expression of CD20 or CD79α was weak and heterogeneous. All 15 case of Ig gene rearrangement were polyclonal. Conclusions: Mature T/NK cell lymphoma with abnormal expression of CD20 or CD79α is rare, commonly found in advanced stage, and associated with poor prognosis. The expression of CD20 or CD79α in these cases is weaker than the corresponding mature T/NK cell lymphomas, while its proliferation index is higher. Histomorphology, extensive immunoprofiling and molecular detection are required for accurate diagnosis.

Diffuse midline gliomas with H3K27 alteration in children: a clinicopathological analysis of forty-one cases / 中华病理学杂志

Objective: To investigate the clinicopathological features of pediatric diffuse midline glioma with H3K27 alteration and to analyze their relationship with prognosis. Methods: Forty-one cases of childhood diffuse midline glioma with H3K27 alteration were collected at Children's Hospital of Fudan University (39 cases) and Xi'an Children's Hospital (2 cases), from July 2016 to July 2020. The clinical manifestations, imaging data, histopathology, immunohistochemical phenotype and molecular genetics features, tumor size, site and histological grading were evaluated. Results: Among the 41 cases, 21 were males and 20 females, the age of onset was 3-14 years, the average and median age was 7.6 years and 7.0 years, respectively. The tumor sites were brain stem (n=36) and other locations (n=5). The clinical manifestations were dizziness, gait disturbance, and limb weakness, etc. The MRI features were variable. The histology varied from low-grade to high-grade glioma with neuron differentiation. Immunohistochemistry showed that the tumor cells expressed H3K27M, GFAP, and Olig2. Genetic study showed that 76% (16/21) of tumors had H3F3A gene mutation, mostly accompanied by TP53 (62%, 13/21) missense mutation; five tumors (24%, 5/21) had HIST1H3B gene mutation, accompanied by missense mutations in ACVR1 and PI3K pathway-related gene PIK3CA (4/5) and PIK3R1 (1/5) mutations. The prognosis was dismal with only one alive and others died. The average and median overall survival time was 7 months and 4 months, respectively. Cox multivariate regression analysis showed that age, tumor location, radiologically maximum tumor diameter, histologic grading, and surgical methods were not significantly associated with overall survival rate (P>0.05). Conclusions: Pediatric diffuse midline gliomas with H3K27 alteration have unique clinicopathological and genetic characteristics. The prognosis is poor. The tumor location and histopathologic grading are not related to prognosis. New specific drugs and comprehensive treatment are needed to improve the prognosis.

Clinicopathological features and BRAF V600E and MYD88 L265P mutation status of nodal marginal zone lymphoma / 中华病理学杂志

Objective: To investigate the clinicopathological features as well as BRAF V600E and MYD88 L265P mutation status of nodal marginal zone B cell lymphoma (NMZL). Methods: Thirty-two cases of NMZL were diagnosed from September 2009 to February 2021 at the Henan Provincial People's Hospital and Peking University School of Basic Medical Sciences. The clinicopathologic characteristics were obtained and analyzed. BRAF V600E and MYD88 L265P mutation status were identified using PCR and Sanger sequencing, respectively. Results: There were 20 males and 12 females patients with a median age of 69 years (ranging 36-82 years). The most prevalent clinical manifestation was multiple lymph nodes enlargement in head and neck (22/32, 68.8%), followed by inguinal (12/32, 37.5%), axillary (11/32, 34.4%), mediastinum (5/32, 15.6%) and retroperitoneal lymph nodes (4/32, 12.5%). Most of the patients were in Ann Arbor stage Ⅰ/Ⅱ (21 cases). The morphologic features included diffuse (24/32, 75.0%), nodular (5/32, 15.6%), interfollicular (2/32,6.3%) and perifollicular (1/32,3.1%) types. The tumor cells showed monocyte-like, centrocyte-like, small lymphocyte-like and plasma cell-like differentiation. Immunophenotyping revealed diffuse expression of CD20 in all tumor cells, whereas CD43 (11/32, 34.4%), bcl-2 (20/32, 62.5%), MNDA (13/32, 40.6%) and CD5 (2/32, 6.3%) were partially expressed. Ki-67 proliferation index varied from 10% to 40%. BRAF V600E mutation was found in two cases (2/32, 6.3%), but MYD88 L265P mutation was not detected. Eighteen patients survived and three died at the end of follow-up period which ranged 6 to 110 months. Conclusions: The morphologic features of NMZL varies across individuals, it should be differentiated from various B-cell lymphomas; however immunological biomarkers with high specificity for NMZL are still lacking. No MYD88 L265P mutation is found in NMZL. Some cases may harbor BRAF V600E mutation and yet the prevalence remains indeterminate; further researches are warranted.

An investigation on serum antibody level of varicella-zoster virus in healthy population in Beijing / 中华预防医学杂志

Objective: To assess the level and trend of varicella-zoster virus (VZV) antibody among healthy population in Beijing in 2017, after the five-year implementation of the two doses varicella vaccination strategy in 2012, and to provide evidence for scientific evaluation of immunization strategy. Methods: A total of 2 144 subjects in ten age groups from 8 districts of Beijing city were recruited in this study using cross-sectional survey based on multi-stage cluster random sampling method. Serum samples were collected and VZV antibody was detected by ELISA. The influencing factors of antibody concentration and positive rate were analyzed and compared with the study in 2012. The antibody concentration and antibody positive rate were analyzed by nonparametric test and χ² test respectively. Results: The ratio of subjects with registered residence in Beijing city to other provinces was 1∶1. The ratio of male to female was 1∶1.08. The median concentration of VZV antibody was 341.4 (78.6, 1 497.8) mIU/ml, and the total antibody positive rate was 71.1% (1 524/2 144). There were significant differences in antibody positive rate (χ²=736.39, P<0.01) and antibody concentration (χ²=740.34, P<0.01) among different age groups. The antibody positive rate generally increased with age (χ²trend=7.32, Ptrend<0.01). Among 862 children under 14 years old, the antibody positive rate of two doses vaccination 72.8% (182/250) was significantly higher than that of one dose vaccination 51.9% (154/297) (χ²=25.14, P<0.01). There was significant difference between 1-4 years old group (χ²=11.71, P<0.01) and 10-14 years old group (χ²=5.95, P=0.02), but not in 5-9 years old group (χ²=3.00, P=0.07). Compared with the study in 2012, the antibody positive rate increased in 5-9 years old group (χ²=14.35, P<0.01) and decreased in 1-4 years old group (χ²=11.51, P=0.01) in 2017. Conclusion: The recommended varicella booster vaccination has significantly improved the VZV antibody level of children in Beijing city. In the future, it is necessary to explore a more optimized two doses varicella vaccination schedule for children in combination with epidemiological evidence.

Myocardial biopsy of Liwen procedure: representability and etiological diagnostic value of cardiac samples obtained by a novel technique in patients with hypertrophic cardiomyopathy / 中华心血管病杂志

Objective: To investigate the representability and etiological diagnostic value of myocardium samples obtained from patients with hypertrophic cardiomyopathy (HCM) by transthoracic echocardiography-guided percutaneous intramyocardial septal biopsy (myocardial biopsy of Liwen procedure). Methods: This study was a retrospective case-series analysis. Patients with HCM, who underwent myocardial biopsy of Liwen procedure and radiofrequency ablation in Xijing Hospital, Air Force Military Medical University from July to December 2019, were included. Demographic data (age, sex), echocardiographic data and complications were collected through electronic medical record system. The histological and echocardiographic features, pathological characteristics of the biopsied myocardium of the patients were analyzed. Results: A total of 21 patients (aged (51.2±14.5) years and 13 males (61.9%)) were enrolled. The thickness of ventricular septum was (23.3±4.5)mm and the left ventricular outflow tract gradient was (78.8±42.6)mmHg (1 mmHg=0.133 kPa). Eight patients (38.1%) were complicated with hypertension, 1 patient (4.8%) had diabetes, and 2 patients (9.5%) had atrial fibrillation. Hematoxylin-eosin staining of myocardial samples of HCM patients before radiofrequency ablation evidenced myocytes hypertrophy, myocytes disarray, nuclear hyperchromatism, hypertrophy, atypia, coronary microvessel abnormalities, adipocyte infiltration, inflammatory cell infiltration, cytoplasmic vacuoles, lipofuscin deposition. Interstitial fibrosis and replacement fibrosis were detected in Masson stained biopsy samples. Hematoxylin-eosin staining of myocardial samples of HCM patients after radiofrequency ablation showed significantly reduced myocytes, cracked nuclear in myocytes, coagulative necrosis, border disappearance and nuclear fragmentation. Quantitative analysis of myocardial specimens of HCM patients before radiofrequency ablation showed that there were 9 cases (42.9%) with mild myocardial hypertrophy and 12 cases (57.1%) with severe myocardial hypertrophy. Mild, moderate and severe fibrosis were 5 (23.8%), 9 (42.9%) and 7 (33.3%), respectively. Six cases (28.6%) had myocytes disarray. There were 11 cases (52.4%) of coronary microvessel abnormalities, 4 cases (19.0%) of adipocyte infiltration, 2 cases (9.5%) of inflammatory cell infiltration,6 cases (28.5%) of cytoplasmic vacuole, 16 cases (76.2%) of lipofuscin deposition. The diameter of cardiac myocytes was (25.2±2.8)μm, and the percentage of collagen fiber area was 5.2%(3.0%, 14.6%). One patient had severe replacement fibrosis in the myocardium, with a fibrotic area of 67.0%. The rest of the patients had interstitial fibrosis. The myocardial specimens of 13 patients were examined by transmission electron microscopy. All showed increased myofibrils, and 9 cases had disorder of myofibrils. All patients had irregular shape of myocardial nucleus, partial depression, mild mitochondrial swelling, fracture and reduction of mitochondrial crest, and local aggregation of myofibrillary interfascicles. One patient had hypertrophy of cardiomyocytes, but the arrangement of muscle fibers was roughly normal. There were vacuoles in the cytoplasm, and Periodic acid-Schiff staining was positive. Transmission electron microscopy showed large range of glycogen deposition in the cytoplasm, with occasional double membrane surround, which was highly indicative of glycogen storage disease. No deposition of glycolipid substance in lysozyme was observed under transmission electron microscope in all myocardial specimens, which could basically eliminate Fabry disease. No apple green substance was found under polarized light after Congo red staining, which could basically exclude cardiac amyloidosis. Conclusion: Myocardium biopsied samples obtained by Liwen procedure of HCM patients are representative and helpful for the etiological diagnosis of HCM.

The analgesic mechanism of exosomes derived from umbilical cord mesenchymal stem cells in rats modelling osteoarthritis / 中华物理医学与康复杂志

Objective:To observe any effect of exosomes derived from umbilical cord mesenchymal stem cells on pain, cartilage repair and the expression of transcriptional activator 3 (ATF-3) and growth related protein 43 (GAP-43) in the dorsal root ganglia (DRG), as well as to explore the mechanism of their relieving pain.Methods:Fifty-four male Sprague-Dawley rats were randomly divided into a sham-operation group, a monoiodoacetate group and an exosome group, each of 18. The knee cavities of the left hind limbs of all of the rats except those in the sham-operation group were injected with 50μl of monoiodoacetate to establish an arthritis pain model. The sham-operation group received only 50μl of saline solution as controls. Two weeks after the modelling, the knee joint cavities of the exosome group were injected with 50μl of exosomes, while the other two groups were injected with 50μl of normal saline. The rats′ mechanical and thermal pain thresholds were measured 1 day before the modeling, 7 and 14 days after the monoiodoacetate injection, as well as 7, 14 and 28 days after the exosome injection. Western blotting was used to detect the expression of ATF-3 and GAP-43 in the rats′ DRG, while hematoxylin and eosin staining was used to detect any cartilage repair.Results:Compared with the monoiodoacetate group, the latency of the mechanical and thermal pain thresholds had increased significantly in the exosome group 7 days after the exosome injection. The difference remained significant until the 28th day after the injection. The expression of ATF-3 protein decreased significantly and that of the GAP-43 protein increased significantly. Significant differences were observed in the average Osteoarthritis Research Society International (OARSI) knee cartilage score.Conclusions:Exosomes can alleviate the pain induced by monoiodoacetate adjuvant. The analgesic mechanism may be related to reducing nerve injury and promoting nerve and cartilage repair, with the nerve repair earlier than cartilage repair.

Repetitive low-frequency transcranial magnetic stimulation can improve sleep disorders and abnormal behavior among children on the autism spectrum / 中华物理医学与康复杂志

Objective:To observe any effect of repetitive low-frequency transcranial magnetic stimulation (rTMS) on sleep disorders and abnormal behaviors of children on the autism spectrum.Methods:Forty autistic children were randomly divided into an observation group and a control group, each of 20. Both groups were given sleep behavior training and individualized conventional rehabilitation training. Those in the observation group also received 30min of rTMS at 1Hz applied over the left dorsolateral prefrontal cortical area once a day, 5 days a week. Before and after 8 weeks of this treatment, both groups were evaluated using the Autism Behavior Checklist (ABC), the Child Autism Rating Scale (CARS) and the children′s Sleep Habit Questionnaire (CSHQ).Results:The average CARS and CSHQ scores, as well as the total ABC score of both groups increased significantly over the 8 weeks, but the average CARS and CSHQ scores, as well as the total ABC score of the observation group were then significantly better than in the control group. After the treatment, the average ABC scores for sensory ability, communication ability, motor ability, and language ability were significantly lower than before the treatment for both groups, but the observation group′s averages were then significantly better than those of the control group.Conclusions:Supplementing routine intervention with low-frequency rTMS can effectively improve the sleeping and correct the abnormal behavior patterns of autistic children.

Genetic analysis of a pedigree of DYNC2H1 gene variation-caused short rib polydactyly syndrome type Ⅲ / 中华围产医学杂志

This paper reported the genetic analysis of a pedigree in which three affected fetuses with short limbs were revealed by first-trimester ultrasonography in three consecutive pregnancies. Tissues of the second aborted fetus were collected and analyzed by chromosome karyotype analysis and whole exome sequencing. The results indicated compound heterozygous mutations of EX64-EX83 Del and c.8190G>T in the DYNC2H1 gene. Real-time fluorescence quantitative polymerase chain reaction and Sanger sequencing further confirmed that the two variants were inherited from the father and the mother with normal phenotypes, respectively. EX64-EX83 Del was a likely pathogenic variant and c.8190G>T was a variant of uncertain significance. Based on the above results and the medical history, it was highly suspected that the fetus had autosomal recessive short rib polydactyly syndrome type Ⅲ caused by compound heterozygous variants. Real-time fluorescent quantitative polymerase chain reaction and Sanger sequencing results of the third aborted fetus were consistent with the second fetus. Given the same phenotypes of fetuses in the second and third pregnancy, it was strongly suggested that the heterozygous variations of EX64-EX83 Del and c.8190G>T in the DYNC2H1 gene were the pathogenic variants in this pedigree.

Effect of different HER2 expression on the efficacy of immunotherapy for advanced urothelial carcinoma who failed the previous chemotherapy / 中华泌尿外科杂志

Objective:To explore the effect of different HER2 expression levels and gene amplification on the efficacy of immunotherapy in metastatic urothelial carcinoma (UC).Methods:The clinical data of 77 patients with metastatic UC who received immunotherapy from June 2017 to April 2021 after failure to the previous chemotherapy were analyzed retrospectively, including 49 males and 28 females with the median age of 62 years. The primary tumors located in bladder in 28 cases (36.4%), renal pelvis in 25 cases (32.5%) and ureter in 24 cases (31.2%). The common metastatic sites included: lymph nodes (n = 45, 58.4%), lung (n = 40, 51.9%), bone (n = 20, 26.0%) and liver (n = 16, 20.8%). 27 patients with bladder UC received surgery on the primary tumors including radical cystectomy (n = 18), partial cystectomy (n = 4) and transurethral resection (n = 5). 43 patients with renal pelvis or ureteral UC received surgery on the primary tumors including radical nephroureterectomy (n = 38), local resection (n = 3) and palliative resection (n = 2). Postoperative intravesical chemotherapy was performed in 15 cases, adjuvant radiotherapy was performed in 6 cases. 3 patients who emerged postoperative bladder recurrence received local radiotherapy. 7 patients received radiotherapy and 1 case received microwave ablation to their metastatic sites. All patients had received first-line chemotherapy and 30 patients (40.0%) had received at least second-line treatment including 70 cases (90.9%) with platinum containing chemotherapy. All 77 patients received anti-PD-1 treatment. 38 patients received sequential regimen after failed to the anti-PD-1 therapy, including antibody-drug conjugate (n = 17), chemotherapy (n = 18) and chemotherapy combined with anti-angiogenesis drugs (n = 12). Immunohistochemical (IHC) staining was used to detect the expression level of HER2 protein in the tumor tissues (74 cases from primary tumors and 3 cases from metastatic tumors) obtained from the initial diagnosis. For patients with HER2 IHC (+ + ), the copy number (CN) of HER2 gene was detected by next-generation sequencing (NGS). HER2 copy number amplification [CN (+ )] was defined as CN ≥ 4, and HER2 copy number non-amplification [CN(-)] was defined as CN < 4. HER2 IHC (0) was defined as HER2 negative, IHC (+ ) or IHC (+ + ) / CN (-)was defined as HER2 low expression, while IHC (+ + ) / CN(+ ) and IHC (+ + + ) were defined as HER2 high expression. Chi-square test or Fisher exact test were used to evaluate the correlation between HER2 expression and objective response rate (ORR) after anti-PD-1 treatment. Kaplan-Meier method and log-rank test were used to compare the differences of median progression free survival (PFS) and overall survival (OS) under different HER2 expression status.Results:All the 77 patients received a median of 11 (range: 2 - 45) doses of anti-PD-1 treatment with a median duration of treatment of 6.4 (range: 1.5 - 47.8) months and the ORR was 33.8% (26/77). The median follow-up time was 30.9 months. The overall median PFS time was 5.8 (95% CI: 3.0 - 8.6) months and the median OS time was 23.6 (95% CI: 8.5 - 38.7) months. HER2 IHC tests were performed in 77 patients. HER2 IHC levels of (0), (+ ), (+ + ) and (+ + + ) were found in 33 (42.9%), 19 (24.7%), 20 (26.0%) and 5 (6.5%) patients, respectively. HER2 copy number was detected in 20 patients with IHC (+ + ), while 1 CN(+ ) and 19 CN(-) were found. The ORR of HER2 negative, low expression and high expression patients were 42.4% (14/33) vs. 31.6% (12/38) vs. 0 (0/6) ( P = 0.08), respectively. The median PFS of the three groups were 11.0 months, 3.7 months and 1.8 months, respectively, with significant differences in overall and pairwise comparison( P=0.001). The median OS of patients with HER2 negative and low expression after anti-PD-1 treatment were 23.6 months and 22.7 months, respectively, while the median OS of patients with HER2 high expression had not been reached, with no significant difference in the overall comparison ( P=0.623). Conclusions:For patients with metastatic UC received anti-PD-1 treatment, the PFS of patients with high HER2 expression was significantly worse than that of patients with low or negative HER2 expression. HER2 expression may have potential value in predicting the efficacy of immunotherapy for metastatic UC who failed the previous chemotherapy, which needs further research.

Effects of systemic immune-inflammation index on long-term survival in esophageal cancer patients treated with radiotherapy / 中华放射医学与防护杂志

Objective:To investigate the effects of the systemic immune-inflammation index (SII)on the long-term survival in esophageal cancer patients treated with radiotherapy.Methods:Aretrospective review was conducted for the clinical data of 303 patients with esophageal squamous cell carcinoma(ESCC)who received radical radiotherapy in the Fourth Hospital of Hebei Medical University from 2011 to 2017. These patients were divided into a high-SII group and a low-SII group according to their SII before radiotherapy. The correlation between SII and survival was determined using the Kaplan-Meier method and Cox regression model. Propensity score matching (PSM) was applied to reduce bias from measured confounding.Results:The SII of patients before radiotherapy was correlated significantly with T stage ( χ2=8.015, P=0.018) and TNM stage ( χ2=8.619, P=0.013). The 1-, 3-, 5-year overall survival (OS) rates in the high-SII group were 64.9%, 27.1%, and 19.4%, respectively. They were significantly lower than those in the low-SII group, which were 84.9%, 43.9%, and 30.5%, respectively (χ 2=13.443, P<0.001). The 1-, 3-, 5-year progression-free survival (PFS) rates in the high-SII group were 46.4%, 20.3%, and 13.3%, respectively. They were significantly lower than those in the low-SII group, which were 67.8%, 34.8%, and 26.5%, respectively (χ 2=12.383, P<0.001). The multivariate analysis indicated that the independent factors influencing the OS and PFS included T stage, lymph node metastasis, chemotherapy, and SII.After PSM was applied, the OS and PFS in the high-SII group were still lower than those in the low-SII group(χ 2OS=4.264, P=0.039; χ 2PFS=5.376, P=0.020), and the multivariate analysis showed that SII was a significant predictor for OS and PFS( HROS=1.357, P=0.037; HRPFS=1.393, P=0.022). Conclusions:SII is a significant independent influencing factor of the OS and PFS inESCC patients treated with received radiotherapy. Based on simple and inexpensive standard laboratory measurements, SII can be a promising marker for ESCC patients.

A clinical analysis of 13 patients with scleroderma renal crisis and pulmonary arterial hypertension / 中华风湿病学杂志

Objective:To describe a series of systemic sclerosis (SSc) patients with the combination of scleroderma renal crisis (SRC) and pulmonary arterial hypertension (PAH).Methods:The medical records of 472 SSc patients in Peking Union Medical College Hospital between January 2012 and October 2020 were reviewed and a retrospective analysis of the characteristics of patients with SRC and PAH among SSc patients was conducted.Results:Thirteen patients suffered from SRC and PAH in the SSc patients, 1 case was limited cutaneous SSc, and 12 cases were diffuse cutaneous SSc. Five patients had renal crisis before pulmonary arterial hypertension, 4 patients had pulmonary arterial hypertension before the occurrence of renal crisis, and the remaining 4 patients were found at the same time. Among them, 11 patients had Raynaud's phenomenon, 7 had gastrointestinal bleeding, 6 had pulmonary edema and 3 had telangiectasias. Twelve cases were positive for anti-nuclear antibodies and 4 cases were positive for anti-Scl-70 antibodies. N-terminal pro-brain natriuretic peptide (NT-proBNP)>1 400 ng/L in 11 patients. Two patients had thrombotic microangiopathy (TMA). Among the 13 patients, 3 patients died during hospitalization, 2 patients were lost to follow-up, and 2 patients died within 5 years of follow-up. Six patients survived, and 1 of the 4 patients with regular dialysis were discharged from dialysis.Conclusion:In patients with scleroderma, SRC can occur earlier, later than, or at the same time with SSc-PAH. Patients may have a higher incidence of gastrointestinal bleeding and higher level of NT-proBNP. PDE5i or ERAs may be beneficial.

Superb microvascular imaging to monitor hemodynamic changes in lower limb arteries in treatment of diabetic foot by tibial transverse transport / 中华创伤骨科杂志

Objective:To evaluate superb microvascular imaging used to monitor the hemodynamic changes in lower limb arteries in the treatment of diabetic foot by tibial transverse transport.Methods:From December 2019 to December 2021, 17 patients with diabetic foot were treated by tibial transverse transport at Department of Orthopedics, The Second Hospital of Shanxi Medical University. Superb microvascular imaging was used to observe the vascular index of the first dorsal metatarsal artery, the total blood flow of the anterior tibial artery and the posterior tibial artery, and the Wagner classification in the patients before surgery, one week and one month after surgery. Complications were documented.Results:After treatment, neovascularization was observed in all the 17 patients and detected on both the ipsilateral and contralateral sides of the surgery. At the last follow-up, the number of newborn collaterals was 7.0 (3.5, 9.0), significantly larger than that before surgery [1.0 (0, 1.5)] ( P<0.05). The vascular index of the first dorsal metatarsal artery at one week (9.70±10.88) and one month (9.22±5.46) after surgery was significantly higher than that before surgery (5.65±4.36) ( P<0.05). There was no significant difference in the total blood flow between the anterior tibial artery and the posterior tibial artery before surgery, one week or one month after surgery ( P>0.05). The Wagner classification at one month after surgery (grade 1 in 4, grade 2 in 11 and grade 3 in 2) was significantly better than that before surgery (grade 2 in one, grade 3 in 2 and grade 4 in 14) and one week after surgery (grade 2 in one, grade 3 in 5 and grade 1 in 11) ( P<0.05). One patient underwent amputation due to acute lower extremity arterial embolism 2 months after operation, and another patient underwent toe amputation due to blackening of the toes. Conclusion:Superb microvascular imaging is a valuable means of monitoring in tibial transverse transport because it can objectively reflect the hemodynamic changes and microcirculation in lower limb arteries and provide valuable information for prognosis of the condition in the treatment of diabetic foot by tibial transverse transport.

Event-related potential for cognitive function research: a visual analysis / 中国康复理论与实践

@#Objective To investigate the development, hot spots and trends of event-related potentials for cognitive function research. Methods The literatures about application of event-related potentials in cognitive function research from 2011 to 2021 in CNKI and Web of Science core collection database were retrieved. The countries, authors, institutions, cited reference and keywords were extracted with CiteSpace to draw knowledge mapping. Results The most of researches came from the United States. For China, the author published the most researches was Zhan Xianghong, and the institute was the West China Mental Health Center of Sichuan University; the keywords such as P300 and depression were the most frequent, and researches focused on Alzheimer's disease, depression and schizophrenia, etc., which tended to use negative correlation changes of event-related potentials. Internationally, the author publishing the most researches was christian beste, and the institute was University of California, San Diego. The keywords such as attention and electroencephalograph were the most frequent, and researches focused on Alzheimer's disease and bipolar disorder, etc., which tended to focus on the P300 theta oscillation. Conclusion The application of event-related potential in cognitive function remains heat, to explore the cognitive dysfunction after various diseases.

Effect of platelet level and platelet parameters on the prognosis of patients with acute-on-chronic liver failure / 临床肝胆病杂志

Objective To investigate the differences in platelet and platelet parameters between patients with different types and etiologies of acute-on-chronic liver failure (ACLF) and the influence of platelet and its dynamic change on the prognosis of ACLF patients. Methods Clinical data, liver function parameters, platelet, and platelet parameters were collected from 364 patients with ACLF who attended Tianjin Third Central Hospital from January 2014 to December 2018. Platelet level and platelet parameters (platelet distribution width and mean platelet volume) were compared between the patients with different types and etiologies of ACLF, and their influence on the 90-day mortality rate of ACLF patients was analyzed, as well as the association of the dynamic change of platelet at baseline and on days 7 and 14 after admission with the prognosis of patients. The chi-square test was used for comparison of categorical data between groups; the Kruskal-Wallis H test or Mann-Whitney U test was used for comparison of continuous data between groups; the Kaplan-Meier method was used for survival analysis; the univariate and multivariate Cox regression analyses were used to analyze the parameters associated with prognosis; the repeated measures analysis of variance was used to analyze the dynamic change of platelet; receiver operating characteristic (ROC) curve was plotted based on platelet level and overall survival. Results The patients with type C ACLF had a significantly lower platelet level than those with type A/B ACLF (all P < 0.001). Compared with the ACLF patients with hepatitis B, the ACLF patients with autoimmune liver diseases had a significant reduction in mean platelet volume ( P =0.035). Based on the cut-off value obtained by the ROC curve analysis, the patients with a platelet level of < 60.5×10 9 /L had a significantly higher mortality rate than those with a platelet level of ≥60.5×10 9 /L ( P =0.006). Platelet level was an independent protective factor against 90-day death in ACLF patients (hazard ratio=0.995, 95% confidence interval: 0.990-0.999, P =0.026), and the mortality rate increased with the reduction in platelet level. The patients with type C ACLF had a significantly higher mortality rate than those with type A ACLF ( P < 0.05), and the death group tended to have a significantly greater reduction in platelet level ( P < 0.05). Compared with the survival group, the 90-day death group had a significantly greater reduction in platelet ( P =0.032). Conclusion There is a difference in platelet level between ACLF patients with different types. Platelet level is an important indicator for the 90-day prognosis of ACLF patients, and patients with a greater dynamic reduction in platelet tend to have a higher 90-day mortality rate.

Effect of Xiangsha Liu Junzitang on Gastric Motility and CRF and UCN2 Expression in Rats with Functional Dyspepsia Due to Spleen Deficiency / 中国实验方剂学杂志

ObjectiveTo observe the effects of Xiangsha Liu Junzitang （XSLJZ） on gastric emptying rate and expression levels of corticotropin-releasing factor （CRF） and urocortin 2 （UCN2） in rats with functional dyspepsia （FD） due to spleen deficiency. MethodForty-eight 10-day-old male SD rats were randomly divided into the normal group （n=8） and iodoacetamide （IA） group （n=40）， and they separately received 2% sucrose solution and 0.1% sucrose solution containing IA for six successive days. Following the removal of mother rats， the three-week-old IA-treated rats were randomized into five groups， namely the model group， mosapride group， and low-， middle-， and high-dose XSLJZ groups， with eight rats in each group. At the age of six weeks， rats in all groups expert for the normal group were modeled by the modified multiple platform method for 14 d. Afterwards， the ones in normal group and model group were treated with 10 mL·kg-1 distilled water， and those in the treatment groups with 1.6×10-3 g·kg-1 mosapride and 2.8， 5.6， and 11.2 g·kg-1 XSLJZ by gavage， respectively， for 14 d. The grasping ability and gastric emptying rate were determined. The histological changes in gastric antrum were observed by hematoxylin-eosin （HE） staining. The protein and mRNA expression levels of CRF and UCN2 in gastric antrum were detected by Western blot and real-time fluorescent quantitative polymerase chain reaction （Real-time PCR）. ResultNo obvious change or organic lesion was observed in gastric antrum of rats in each group. Compared with the normal group， the model group exhibited lowered gastric emptying rate and grasping ability （P<0.01）， up-regulated CRF protein and mRNA expression in gastric antrum （P<0.01）， and down-regulated UCN2 protein and mRNA expression （P<0.05， P<0.01）. Compared with the model group， XSLJZ at the middle and high doses enhanced the grasping ability and gastric emptying rate （P<0.05， P<0.01） and down-regulated CRF mRNA expression to varying degrees （P<0.05， P<0.01）. XSLJZ at the high dose decreased CRF protein expression （P<0.05） and up-regulated UCN2 protein and mRNA expression （P<0.01）. ConclusionThe mechanism of XSLJZ in invigorating spleen and promoting gastric motility of FD rats may be related to its reduction of CRF and elevation of UCN2 in gastric antrum.