[Pediatric giant cell tumor of bone: a clinicopathological analysis of 35 cases].

Objective: To investigate the clinicopathological characteristics of giant cell tumor of bone (GCTB) in children. Methods: A total of 35 cases of GCTB diagnosed at Shanghai Sixth People's Hospital Affiliated to Shanghai Jiaotong University School from 2016 to 2023 were collected, and a retrospective analysis of clinicopathological features and imaging findings was conducted. Results: Pediatric GCTB accounted for approximately 4.6% of total GCTB cases during the study period. There were 11 males and 24 females. The onset age ranged from 9 to 18 years (mean age 15 years, median age 16 years), with 8 cases (8/35, 22.9%) experiencing postoperative recurrence. Twenty-eight cases (28/35, 80%) primarily affected long bones, while 7 cases involved small or irregular bones. Imaging revealed osteolytic changes as the predominant feature, with 3 cases exhibited open physis, one of which had the tumor primarily at the diaphysis without crossing the physis. Histologically, pediatric GCTB resembled adult cases, characterized by mononuclear cells and osteoclast-like giant cells. Seven cases with denosumab treatment demonstrated degrees of giant cell disappearance, increased fibrous tissue and reactive bone proliferation in the stroma. One case was diagnosed as pediatric multicentric GCTB, and three cases as pediatric primary malignant GCTB, with malignant transformation into osteosarcoma. In all 35 cases, mutations in the H3F3A gene were identified, comprising 32 cases with H3.3 p.G34W mutations, one case with H3.3 p.G34V mutation, and 2 cases with H3.3 p.G34L mutations. Notably, the former two categories were successfully validated at the protein level through immunohistochemical staining, utilizing highly specific antibodies tailored for these mutation types: H3.3 p.G34W antibody and H3.3 p.G34V antibody. However, immunohistochemical staining was not available for the last category. Conclusions: Pediatric GCTB predominantly affects females and occurs primarily in long bones, mainly around the knee joint, the majority of tumors predominantly arise in the epiphysis and extend into the metaphysis; however, in cases where the epiphyseal plates are still unclosed, the tumors may be restricted to the metaphysis. Detection of H3F3A gene mutation is crucial for the diagnosis and differential diagnosis of pediatric GCTB.

Large Isospin Asymmetry in

ß-delayed one-proton emissions of ^{22}Si, the lightest nucleus with an isospin projection T_{z}=-3, are studied with a silicon array surrounded by high-purity germanium detectors. Properties of ß-decay branches and the reduced transition probabilities for the transitions to the low-lying states of ^{22}Al are determined. Compared to the mirror ß decay of ^{22}O, the largest value of mirror asymmetry in low-lying states by far, with δ=209(96), is found in the transition to the first 1^{+} excited state. Shell-model calculation with isospin-nonconserving forces, including the T=1, J=2, 3 interaction related to the s_{1/2} orbit that introduces explicitly the isospin-symmetry breaking force and describes the loosely bound nature of the wave functions of the s_{1/2} orbit, can reproduce the observed data well and consistently explain the observation that a large δ value occurs for the first but not for the second 1^{+} excited state of ^{22}Al. Our results, while supporting the proton-halo structure in ^{22}Al, might provide another means to identify halo nuclei.

[The effect of arthroscopic synovectomy on refractory knee arthritis with popliteal cyst in 153 patients].

Objective: To investigate the efficacy of arthroscopic synovectomy on refractory knee arthritis complicated with popliteal cyst. Methods: Patients diagnosed as rheumatoid arthritis (RA) or spondyloarthritis (SpA) with refractory knee arthritis who underwent knee arthroscopic synovectomy in our hospital from 2010 to 2017 were enrolled, including 20 patients (16 RA, 4 SpA) with popliteal cyst. Clinical data, RA disease activity score (DAS28), SpA back pain score, etc, were collected to evaluate the efficacy of knee surgery. Results: Erythrocyte sedimentation rate (ESR) [58(17, 79)mm/1h vs. 19(9, 30)mm/1h, P< 0.001],C reactive protein (CRP) [3.72(0.92,8.14) mg/L vs. 0.85(0.10,3.08) mg/L,P<0.001], rheumatoid factor [64.6(20.2,193.3) vs. 20.5(10.0,58.4),P<0.001], DAS28 score(4.67±1.25 vs. 2.81±1.23,P<0.001), knee joint discomfort score [5(4,6) vs. 2(1,3),P<0.001] and the volume of knee joint effusion by ultrasound (P<0.05) in 95 RA patients were significantly decreased compared to those before operation. ESR [27(12,54)mm/1h vs. 20 (16,28) mm/1 h,P<0.001], CRP [3.27(1.06,6.95) mg/L vs. 1.41(0.34,3.03)mg/L,P<0.001],knee discomfort score [2(0,5) vs. 1(0,3),P<0.05], back pain visual analogue score (VAS) [5(4,5) vs. 2(1,3), P<0.001], and the volume of knee joint effusion by ultrasound (P<0.001) in 58 SpA patients were significantly lower than those before the operation.The rate [16.84%(16/95) vs. 6.32%(6/95),P=0.023] and grading (P=0.007) of popliteal cyst in RA were decreased after the operation. No statistically difference was observed in the rate [6.90% (4/58) vs. 5.17%(3/58), P=0.697] of popliteal cyst in patients with SpA, yet with a trend of decrease in 4 patients. Conclusion: This study provide evidence that knee arthroscopic synovectomy has a good effect for refractory knee arthritis, which can reduce disease activity, improve joint symptoms and decrease the grading of popliteal cyst.

[Performance of interpreting the variants of long QT syndrome according ACMG guidelines by four clinical gene screening agencies from Beijing].

Objective: To analyze the interpretation results on the pathogenic classification of KCNH2 variants and SCN5A variants of long QT syndrome (LQTS) based on American College of Medical Genetics and Genomics (ACMG) guidelines by 4 clinical gene screening agencies from Beijing. Methods: Pathogenic classification of 16 variants in KCNH2 and SCN5A was made by 4 clinical gene screening agencies from Beijing based on ACMG guideline. Krippendorff's alpha was used to assess the inter-agency variation consistency. Results: All 4 agencies made pathogenic assessment on all the variants and provided the interpretation results for the classification. For the eight variants from the patients with LQTS, the consistency of classification was only 1/8 and the alpha test value was - 0.01. For the eight variables from incidental findings, the consistency of classification was 4/8 and the alpha test value was 0.407. Evidence analysis of the 4 variants with large differences in classification among agencies showed that the main reasons for the discrepancies originated from the comprehensiveness of the literature search and the inconsistency of the subjective determination of the evidence grade. Conclusion: The consistency of the pathogenic classification of LQTS gene variants based on ACMG guidelines among clinical gene screening agencies from Beijing is poor, which will result in great impact on the clinical treatment strategies of the patients with LQTS. The standardization of pathogenic evaluation of variants in clinical gene screening agencies needs to be improved urgently.

[Application value of whole brain 3D artery spin labeling in diagnosis of intracranial tumors].

Objective: To investigate the perfusion characteristics of arterial spin labeling (ASL) in intracranial tumor and its application value in classification. Methods: The clinical, pathological and imaging data of 44 patients with gliomas confirmed by pathology were analyzed retrospectively, including 9 low grade gliomas, 15 high grade gliomas, 11 cases of meningiomas, 6 cases of neurilemmoma, 3 cases of metastatic tumors.Conventional plain scan, 3D- ASL and MRI dynamic enhanced imaging (DSC-MRI) were performed.The mean maximal cerebral blood flow (CBF) of the solid component of tumor was obtained based on the region of interest.Immunohistochemical staining was performed in 24 patients with glioma.The differences of cerebral blood flow map (CBF) and relative cerebral blood flow (rCBF) in 44 patients with intracranial tumors were compared. The results of paired t test between the tumor area and the contralateral mirror area were measured by the two methods. Results: Taken the normal control-lateral grey matter(GM) as reference to normalize the CBF of tumor, three normalized tumor blood flow (nTBF) acquired by ASL showed statistical difference between low grade and high grade gliomas respectively (P<0.05). While taken the mirror region (M) and normal control-lateral white matter (WM) as reference to normalize the CBF of tumor, it showed no statistical difference (P>0.05). There was no 1p deletion in the cases of ASL perfusion in low-grade glioma group.In the case of 1p deletion in high grade glioma group, ASL was low perfusion, and there was no 1p deletion in the cases of ASL perfusion. Conclusion: 3D ASL can be used to identify high-grade and low-grade gliomas which has important reference value in the qualitative diagnosis of brain tumors and preoperative grading of gliomas.A separate use of 3D-ASL might cause over-or underestimation of tumor diagnosis, therefore a comprehensive analysis is needed.

[Performance of pulmonary function test in people aged 40 years and above in China, 2019-2020].

Objective: To understand the performance of pulmonary function tests in people aged ≥40 years and its changes in China, and provide evidence for the evaluation of the effect of chronic obstructive pulmonary disease (COPD) prevention and control in China. Methods: The subjects of the survey were from COPD surveillance during 2014-2015 and during 2019-2020, which covered 31 provinces (autonomous regions and municipalities) in China. The survey used multi-stage stratified cluster random sampling method, the trained investigators conducted face-to-face interview to know whether subjects had previous pulmonary function testing or not. Complex sampling weighting was used to estimate the rate of pulmonary function testing in people aged ≥40 years, and the pulmonary function testing rates of the two COPD surveillance periods were compared. Results: A total of 148 427 persons were included in the analysis, including 74 591 persons during 2014-2015 and 73 836 persons during 2019-2020. In 2019-2020, the pulmonary function testing rate in Chinese residents aged ≥40 years was 6.7% (95%CI: 5.2%-8.2%), the rate in men (8.1%, 95%CI: 6.7%-9.6%) was higher than that in women (5.4%, 95%CI: 3.7%- 7.0%), and the rate in urban residents (8.3%, 95%CI: 6.1%-10.5%) was higher than that in rural residents (4.4%, 95%CI: 3.8%-5.1%). The rate of pulmonary function testing increased with the increase of education level. During 2019-2020, the residents with history of chronic respiratory diseases had the highest rate of pulmonary function testing (21.2%, 95%CI: 16.8%-25.7%), followed by the residents with respiratory symptoms (15.1%, 95%CI: 11.8%-18.4%) , the pulmonary function testing rate in those who knew the name of chronic respiratory disease was higher than that in those who did not knew the name of respiratory disease, and the pulmonary function testing rate in former smokers was higher than that in current smokers and non-smokers. Those exposed to occupational dust and/or harmful gases had a higher rate of pulmonary function testing compared with those who were not exposed, and those who used polluted fuels indoors had a lower rate of pulmonary function testing than those who did not use polluted fuels indoors (all P<0.05). Compared with 2014-2015, the pulmonary function testing rate in residents aged ≥40 years in China increased by 1.9 percentage points during 2019-2020, and the rate of pulmonary function testing in groups with different characteristics all increased, and the rates of pulmonary function testing increased by 7.4 percentage points and 7.1 percentage points in residents with respiratory symptoms and in those with history of chronic respiratory diseases (all P<0.05). Conclusions: Compared with 2014-2015, the rate of pulmonary function testing increased in China during 2019-2020 and the increase in residents with history of chronic respiratory diseases and respiratory symptoms was relatively obvious, but the overall pulmonary function testing rate was still at a low level. Effective measures should be taken to further increase the rate of pulmonary function testing.

[Prevalence of smoking in adults aged 40 years and above in China, 2019-2020].

Objective: To understand the prevalence of smoking and its change in adults aged ≥40 years in China and provide evidence for the development of chronic obstructive pulmonary disease (COPD) prevention and control strategies. Methods: The data of this study were obtained from COPD surveillance in China during 2014-2015 and during 2019-2020. The surveillance covered 31 provinces (autonomous regions and municipalities). A multi-stage stratified cluster random sampling were used to select residents aged ≥40 years, and face-to-face interviews were conducted to collect the information about their tobacco use. After complex sampling weighting of the samples, the current smoking rate, average age to start smoking and average daily cigarette consumption of people with different characteristics during 2019-2020 were estimated, and the changes in the current smoking rate and average daily cigarette consumption were analyzed from 2014-2015 to 2019-2020. Results: During 2019-2020, the current smoking rate in adults aged ≥40 years was 27.2%, and the rate was much higher in men (52.1%) than in women (2.5%).The average age of the smokers to start smoking was 20.0 years old, and men usually started smoking at younger age (19.6 years) compared with women (27.9 years). The average daily cigarette consumption of daily smokers was 18.0 sticks, and the consumption of men (18.3 cigarettes) was higher than that of women (11.1 cigarettes). Compared with the surveillance results during 2014-2015, the current smoking rate had decreased by 2.8 percentage points in the general population, 4.1 percentage points in males, 1.6 percentage points in females, and the urban and rural areas fell by 3.1 percentage points and 2.5 percentage points, respectively. The average daily cigarette consumption decreased by 0.6 sticks. Conclusions: In recent years, the current smoking rate and average daily cigarette consumption in adults aged ≥40 years decreased in China, but smoking is still common in more than quarter of this population and more than half of men aged ≥40 years. It is necessary to take targeted tobacco control measures based on population and regional characteristics to further reduce the smoking level of the population.

A comprehensive prognostic analysis of cause-specific mortality in patients with ovarian serous cystadenocarcinoma using a competing-risks model: a case study of the SEER database.

OBJECTIVE: This retrospective study employed a competing-risks analysis utilizing the Surveillance, Epidemiology, and End Results (SEER) database to identify precise prognostic factors associated with ovarian serous cystadenocarcinoma (OSCC) in patients. PATIENTS AND METHODS: Patients with OSCC during 2004-2015 were identified in the SEER database, and their clinicopathological, demographic, and survival data were examined. Univariate analysis using Gray's test and the cumulative incidence function was used to evaluate the prognoses of events of interest. The multivariate analysis involved several models, including the Cox proportional hazards, Fine-Gray, and cause-specific (CS) hazard function models, to estimate the hazard functions of competing risks. Hazard ratios were analyzed to identify the reliability of the prognostic factors. RESULTS: Among the 10,400 individuals diagnosed with OSCC, 5,713 died from the illness, and 1,125 died from other causes. The cumulative incidence rate of events of interest was found to be significant for ethnicity, age at diagnosis, histological grade, American Joint Committee on Cancer (AJCC) stage, chemotherapy and surgery status, tumor size, marital status, and local lymph node metastases (p<0.05). The multivariate analysis revealed that ethnicity, histological grade, surgery and chemotherapy status, age at diagnosis, AJCC stage, marital status, and distant metastases were independent prognostic factors in the Cox model (p<0.05). Finally, the Fine-Gray and CS models demonstrated that ethnicity, histological grade, surgery and chemotherapy status, age at diagnosis, AJCC stage, tumor size, marital status, and combination summary stage were all identified as independent prognostic factors (p<0.05). CONCLUSIONS: This study determined the risk factors for OSCC using a competing risk analysis model established by the SEER database. The findings can help clinicians understand OSCC better and provide more accurate medical support to affected patients.

Development and application of a reverse-transcription recombinase-aided amplification assay for subgroup J Avian leukosis virus.

Subgroup J Avian leukosis virus (ALV-J) is an important pathogen of poultry tumor diseases. Since its discovery, it has caused significant economic losses to the poultry industry. Thus, the rapid detection of molecular level with strong specificity is particularly important whether poultry are infected with ALV-J. In this study, we designed primers and probe for real-time fluorescent reverse-transcription recombinase-aided amplification assay (RT-RAA) based on the ALV-J gp85 sequence. We had established a real-time fluorescent RT-RAA method and confirmed this system by verifying the specificity and sensitivity of the primers and probe. In addition, repeatability tests and clinical sample regression tests were used for preliminary evaluation of this detection method. The sensitivity of established method was about 101 copies/µL, and the repeatability of the CV of the CT value is 4%, indicating repeatability is good. Moreover, there was no cross-reactivity with NDV, IBV, IBDV, H9N2, MDV, and REV, and other avian leukosis virus subgroups, such as subgroups A, B, C, D, K and E. Importantly, the real-time fluorescent RT-RAA completed the test within 30 min at a constant temperature of 41°C. Forty-two clinical samples with known background were tested, and the test results were coincided with 100%. Overall, these results suggested that the real-time fluorescent RT-RAA developed in this study had strong specificity, high sensitivity, and good feasibility. The method is simple, easy, and portable, that is suitable for clinical and laboratory diagnosis, and provides technical support for the prevention and control of ALV-J.

[Investigation of Anisakis infections in market-available marine fish in Dongtai City].

OBJECTIVE: To understand the situation of Anisakis infection of in market-available marine fish in Dongtai City, so as to provide the evidence for the assessment of the risk of human Anisakis infections. METHODS: Raw and fresh marine fish caught in the sea of Dongtai City for sale were collected in 2018. The fish were weighted and dissected for the identification of Anisakis, and the prevalence and intensity of Anisakis infections were calculated. In addition, the correlation between the weight of Anisakis-infected marine fish and the infection intensity of Anisakis was examined. RESULTS: There were four species of marine fish infected with Anisakis, including Trichiurus haumela, Scomberomorus niphonius, Pneumatophorus japonicus and Larimichthys polyactis. Among the 149 fish samples, there were 78 with Anisakis infections, with a prevalence rate of 52.35%. The prevalence of Anisakis infection was 100.00% (28/28), 30.00% (9/30), 0 (0/30), 53.33% (16/30) and 80.65% (25/31) in T. haumela, S. niphonius, cuttle fish, P. japonicus and L. polyactis, respectively. A total of 1 049 Anisakis worms were collected, and the overall intensity of infection was 13.45 worms per fish. Spearman correlation analysis showed a positive correlation between the weight of T. haumela and the intensity of Anisakis infection (rs = 0.38, P = 0.047), and no correlation was found in other fish species. CONCLUSIONS: There is a high rate of Anisakis infection in marine fish along the offshore areas of Dongtai City. Intensification of health education is required and healthy and safe dietary habits are encouranged.

Overexpression of paralogues of the wheat expansin gene TaEXPA8 improves low-temperature tolerance in Arabidopsis.

Low temperature is one of the important factors limiting wheat yield in cold regions. Expansins are nonenzymatic proteins that loosen cell walls and play important roles in diverse biological processes related to cell wall modification, including development and stress tolerance. Many studies have shown that expansins are involved in resistance to various abiotic stresses, such as heat and drought. However, the role of expansins in response to low-temperature stress remains unclear. Based on our previous transcriptome data of a winter wheat cultivar Dongnongdongmai 2 (DN2), we found that one of the expansin genes, TaEXPA8, was significantly induced by low temperature, indicating a role for TaEXPA8 in cold resistance. In this study, the paralogous TaEXPA8 genes TaEXPA8-A, TaEXPA8-B and TaEXPA8-D were cloned by RT-PCR. These three genes were then transformed into Arabidopsis by the floral dip method. Expression patterns of TaEXPA8 genes in different tissues and in response to several abiotic stresses and hormones were detected by quantitative real-time PCR (qRT-PCR). The results showed that TaEXPA8-A and TaEXPA8-B were expressed mainly in roots, while TaEXPA8-D was expressed predominantly in flowers. TaEXPA8 genes were induced by low-temperature and drought. The overexpression of TaEXPA8-B and TaEXPA8-D enhanced low-temperature resistance and had increased superoxide dismutase (SOD), peroxidase (POD) and catalase (CAT) activity and soluble protein, MDA and proline content. In summary, our study suggested that the expansins TaEXPA8-B and TaEXPA8-D are involved in the response to low temperature and possibly play a role in cold resistance by activating the protective enzyme system.

[Effects of IL10-592 locus of AA genotype on the incidence of aGVHD and survival after HLA-matched unrelated allogeneic hematopoietic stem cell transplantation].

OBJECTIVE: To explore the impact of IL10-592 (rs1800872) single nucleic acid polymorphism (SNP) on the prognosis of HLA matched unrelated hematopoietic stem cell transplantation (HSCT). METHODS: The polymorphism of IL10-592 in 104 recipient-donor pairs and 100 healthy volunteers was analyzed with sequence based typing (SBT). RESULTS: When the genotype of IL10-592 in donors and recipients matched, AA/AA genotype had higher incidence of Ⅲ-Ⅳ aGVHD than AC/AC or CC/CC genotype (47.1%, 3.7%, 0, P=0.002). When the genotype of IL10-592 in donors and recipients mismatched, recipients with AC genotype or donors with AA genotype, there was significant different incidence of Ⅲ-ⅣaGVHD among donors or recipients with different genotype (P=0.046, P=0.041). The recipients with AA genotype had higher incidence of Ⅲ-Ⅳ aGVHD than AC or CC genotype (27.8% vs 10.2%, 11.1%; P=0.072), and higher incidence of intestinal aGVHD (22.2% vs 5.1%,11.1%; P=0.040) , lower incidence of 2-year overall survival (OS: 48.2% vs 75.1%, 85.7%; P=0.002), lower incidence of 2 year disease free survival (DFS: 48.5% vs 66.3%, 76.2%; P=0.045). Patients had higher incidence of Ⅲ-Ⅳ aGVHD with donors of AA genotype than with donors of AC or CC genotype (26.5% vs 8.9%, 0; P= 0.024), and higher incidence of intestinal aGVHD (20.4% vs 4.4%, 0; P=0.026). In multivariate analysis, the genotype of IL10-592AA in recipients and donors had increased risk of Ⅲ-Ⅳ aGVHD (OR=3.3, P= 0.049; OR=3.9, P=0.043). There were no statistical differences on the incidence of cGVHD and relapse. CONCLUSION: In HLA-10/10 matched unrelated HSCT, the presence of IL10-592 AA genotype in recipients and/or donors is an adverse factor for Ⅲ-ⅣaGVHD, worse OS and 2-year DFS.