Analysis of LMP specific T cell immune response and clinical factors in stage III-IVa nasopharyngeal carcinoma / 中华放射肿瘤学杂志

Objective:To explore the Epstein-Barr virus (EBV) latent infection membrane protein (LMP) 1 or LMP2 specific T cell immune response and clinical significance in stage III-IVa nasopharyngeal carcinoma (NPC), aiming to provide ideas and evidence for immunotherapy in NPC.Methods:Fifty-nine NPC patients admitted to the Affiliated Tumor Hospital of Xinjiang Medical University from February 2018 to October 2020 for primary treatment were collected. Peripheral blood monocytes (PBMCs) were stimulated by LMP antigen. Intracellular cytokine staining and flow cytometry were applied to study the expression levels of IL-2, IL-13, interferon-γ (IFN-γ) and tumor necrosis factor-α (TNF-α) from CD4 + T and CD8 + T cells, and then analyzed in conjunction with clinical factors. Results:The positive rates of total PBMCs to LMP1 and LMP2 in NPC patients were different. The positive rate of LMP1 specific CD4 + T cells was statistically higher in stage T 3-T 4 NPC than that in stage T 1-T 2 (51.0% vs. 10.0%, P=0.042). There were also differences in the expression of cytokines between LMP1 and LMP2, CD4 +T cells and CD8 +T cells. Survival analysis showed the 2-year and 3-year overall survival (OS) rates were 91.5% and 88.2%, and the 2-year and 3-year progression-free survival (PFS) rates were 83.3% and 75.3%. Univariate analysis suggested that smoking history, male and LMP1 stimulated IL-13 positive expression in CD4 + T cells affected the disease progression ( P=0.026, 0.045 and 0.006); multivariate analysis showed LMP1 stimulated IL-13 positive expression in CD4 + T cells and smoking history were the independent prognostic factors affecting PFS ( P=0.017, 0.019). Conclusions:LMP1 and LMP2 generate specific T-cell immune response in PBMCs of NPC patients, with differential expression in two T-cell subsets. LMP1 and LMP2 specific T cell immune response is associated with primary tumor size and metastatic lymph node volume. LMP1 stimulated IL-13 positive expression in CD4 + T cells and smoking history affects the disease progression.

Relationship between arterial blood partial pressure of carbon dioxide and prognosis of neurological function after cardiopulmonary resuscitation / 中国基层医药

Objective:To investigate the relationship between arterial blood partial pressure of carbon dioxide and neurological outcome after cardiopulmonary resuscitation.Methods:The clinical data of 116 patients who underwent cardiopulmonary resuscitation admitted to the Intensive Care Unit and Emergency Department of the Second People's Hospital of Hefei from January 2018 to January 2020 were retrospectively analyzed. According to the average arterial blood partial pressure of carbon dioxide within 24 hours after admission, patients were divided into normal (35 mmHg ≤ PaCO 2 ≤ 55 mmHg, 1 mmHg = 0.133 kPa, n = 44), hypercapnia (PaCO 2 > 55 mmHg, n = 51), and hypocapnia (PaCO 2 < 35 mmHg, n = 21) groups. ICU stay, in-hospital mortality, and neurological outcome at discharge were compared among groups. A logistic regression analysis model was established. The relationship between PaCO 2 and neurological outcome was determined. Results:There were no significant differences in age, sex, cardiac arrest time, acute physiological and chronic health evaluation II score at admission, 1-hour mean arterial pressure, location of cardiac arrest, and initial heart rhythm among the three groups (all P > 0.05). ICU stay in the normal group [(7.23 ± 2.55) days] was significantly higher than that in the hypercapnia [(12.21 ± 4.12) days] and hypocapnia [(11.78 ± 4.72) days] groups ( t = 6.48, 4.59, both P < 0.01). In-hospital mortality in the normal group was 38.6% (17/44), which was significantly lower than 60.8% (31/51) in the hypercapnia group and 66.7% (14/21) in the hypocapnia group ( χ2 = 4.63, 4.47, both P < 0.05). The good neurological outcome rate in the normal group was 55.6% (15/44), which was significantly higher than 25.0% (5/51) in the hypercapnia group and 28.6% (2/21) in the hypocapnia group ( χ2 = 8.38, 5.14, both P < 0.05). Multivariate logistic regression analysis showed that cardiac arrest time, 1-hour mean arterial pressure, acute physiological and chronic health evaluation II score, and PaCO 2 are important factors for neurological outcomes of resuscitated patients at discharge (all P < 0.01). Conclusion:Within 24 hours after cardiopulmonary resuscitation, maintaining a normal PaCO 2 level can help improve the neurological outcome of patients at discharge.

Exploration and practice of the blended teaching model based on BOPPPS classroom reconstruction in Diagnostic Radiology / 中华医学教育探索杂志

Objective:To investigate the feasibility and effectiveness of the blended teaching model for diagnostic radiology based on BOPPPS classroom reconstruction, i.e., bridge-in, objective, pre-assessment, participatory-learning, post-assessment, and summary.Methods:The undergraduate students in the classes of 2017 and 2018 in Department of Medical Imaging were selected as research subjects. The students in the class of 2018 were established as observation group and received the innovative blended teaching model based on BOPPPS classroom reconstruction, and those in the class of 2017 were established as control group and received teaching with traditional theoretical lectures. At the end of the course, 80 students were randomly selected from the observation group and the control group for performance analysis and teaching evaluation. SPSS 26.0 was used to perform the t-test. Results:The observation group had a total score of (82.66±6.18), while the control group had a total score of (76.47±5.42), and compared with the control group, the observation group had significantly higher scores of homework score, course discussion, and final examination ( P<0.05). Compared with the control group, the observation group had significantly higher scores of "understanding of the basic knowledge of imaging", "improvement of comprehensive diagnostic thinking ability", "stimulating the interest in learning and expanding horizons", and "cultivating clinical competence" in the self-evaluation survey ( P<0.05). Conclusion:The blended teaching model based on BOPPPS classroom reconstruction is suitable for the teaching of radiology diagnostics. It not only enriches teaching means and methods and enhances classroom participation and interaction, but also expands teaching space and teaching content.

The effect and mechanism of formononetin on alleviating no-reflow after myocardial ischemia and reperfusion by up-regulating the PI3K/Akt/eNOS signal pathway activated by GPER / 药学学报

To investigate the cardioprotective effect of formononetin (FMN) on no-reflow (NR) after myocardial ischemia-reperfusion and its molecular mechanism based on integrated pharmacology and experimental verification, firstly, human breast cancer MCF-7 cells and myocardial NR rats were used to confirm the estrogenic activity and the effect of alleviating NR of FMN, respectively. Male SD rats were divided into Sham, NR, FMN (20 mg·kg-1) and sodium nitroprusside (SNP, 5.0 mg·kg-1) groups, which were administered once a day for one week, the experiment was approved by the Ethics Committee of Tianjin University of Traditional Chinese Medicine (TCM-LAEC2019095). The pharmacological analysis and in vivo study of NR rats were integrated to reveal the mechanism of FMN improving NR. The results showed that FMN had estrogenic effect and reduced NR by improving cardiac structure and function, reducing NR, ischemic myocardial area and pathological injury of cardiomyocytes. Integrated pharmacology predicts that the mechanism of FMN improving NR is mainly related to phosphatidyinositol-3-kinase-protein kinase B (PI3K-Akt) signal pathway. Phytoestrogens play a role in cardiovascular protection mainly by activating G protein-coupled estrogen receptor (GPER). GPER is also an important regulator in the upstream of PI3K-Akt signaling pathway. This study found that FMN can significantly activate GPER, p-PI3K, p-Akt and phospho-endothelial nitric oxide synthase (p-eNOS). It has good binding ability with GPER and eNOS protein. In this study, through the integration of pharmacology and experimental evaluation, it is revealed that FMN activates PI3K/Akt/eNOS signal pathway by activating GPER, thus significantly improving NR.

Porphyromonas gingivalis infection causes umbilical vein endothelial barrier dysfunction in vitro by down-regulating ZO-1, occludin and VE-cadherin expression / 南方医科大学学报

OBJECTIVE@#To explore the molecular mechanisms of Porphyromonas gingivalis infection-induced umbilical vein endothelial barrier dysfunction in vitro.@*METHODS@#Human umbilical vein endothelial cells (HUVECs) were cultured in vitro, and after the formation of the endothelial barrier, the cells were infected with P. gingivals at a multiplicity of infection (MOI). The transepithelial electrical resistance (TEER) of the cell barrier was measured, and FITC-dextran trans-endothelial permeability assay and bacterial translocation assay were performed to assess the endothelial barrier function. The expression levels of cell junction proteins including ZO-1, occludin and VE-cadherin in the cells were examined by qRT-PCR and Western blotting.@*RESULTS@#In freshly seeded HUVECs, TEER increased until reaching the maximum on Day 5 (94 Ωcm2), suggesting the formation of the endothelial barrier. P. gingivals infection caused an increase of the permeability of the endothelial barrier as early as 0.5 h after bacterial inoculation, and the barrier function further exacerbated with time, as shown by significantly lowered TEER, increased permeability of FITC-dextran (40 000/70 000), and increased translocation of SYTO9-E. coli cross the barrier. MTT assay suggested that P. gingivals infection did not significantly affect the proliferation of HUVECs (P>0.05), but in P. gingivalsinfected cells, the expressions of ZO-1, occludin and VE-cadherin increased significantly at 24 and 48 h after bacterial inoculation (P < 0.05).@*CONCLUSION@#P. gingivals may disrupt the endothelial barrier function by down-regulating the expressions of the cell junction proteins (ZO-1, occludin, VE-cadherin) and increasing the permeability of the endothelial barrier.

Application of vacuum sealing drainage technique in high-risk incision of bone and soft tissue tumors / 中国医师进修杂志

Objective:To investigate the efficacy and application value of vacuum sealing drainage (VSD) in high-risk incision after bone and soft tissue tumor surgery.Methods:From January 2020 to September 2022, 22 patients with high-risk incisions after bone and soft tissue tumor resection in Shengjing Hospital, China Medical University were treated with VSD. The postoperative negative pressure was set at 0.025 MPa (188 mmHg, 1 mmHg = 0.133 kPa), and the VSD device was removed on the 7th day after operation. After removal, the wound healing and the incidence of related complications were observed.Results:After removing the VSD, 20 patients with high-risk incisions reached the standard of grade A healing, the rate of grade A healing was 90.91%, and 2 patients had incision wound necrosis, and the incision healed were improved after dressing change. The patients were followed up for 6 - 12 months, with an average time of 10 months. The wound healing of all patients reached the standard of grade A healing, and no long-term complications occurred.Conclusions:VSD technique has good clinical effect and can be applied to various high-risk incisions after bone and soft tissue tumor surgery, which can effectively prevent the occurrence of incision complications.

Disease spectrum analysis of 1 520 cases with lysosomal storage disorders / 中华实用儿科临床杂志

Objective:To analyze the disease spectrum of lysosomal storage disorders(LSDs) and explore the prevalent distributions of different LSD types in one center in Shanghai.Methods:A retrospective analysis was made.A total of 5 476 suspected LSD patients, including 3 415 males and 2 061 females, with a median age of 4 years(1 day to 72 years), were collected from Xinhua Hospital, Shanghai Jiaotong University School of Medicine from August 2008 to May 2022.The activity of different lysosomal enzymes was detected by fluorescent and biochemical methods.Results:A total of 1 520 patients were diagnosed with LSDs, including 972 males and 548 females, with a median age of 4 years(1 day to 59 years), involving 19 different subtypes.Mucopolysaccharidosis(MPS) was the most common type among LSDs, with a frequency of 45.46%(691/1 520), followed by sphingolipidoses [33.88%(515/1 520)] and glycogen storage disease type Ⅱ [16.05%(244/1 520)] successively.MPS Ⅱ was the most common type in MPS, with a frequency of 45.73%(316/691), followed by MPS ⅣA [22.87%(158/691)]. Niemann-Pick A/B, Gaucher, and Krabbe diseases were common in Sphingolipidoses patients, with frequencies of 37.09%(191/515), 34.37%(177/515), and 10.29%(53/515), respectively.Conclusions:LSDs are common genetic metabolic diseases, especially MPS and sphingolipidoses.Newborn screening for LSDs should be carried out timely so that the patients can be treated early and their prognosis can be improved.

Thoughts of syndrome differentiation and treatment of precancerous lesions of chronic atrophic gastritis based on the theory on hidden pathogen / 国际中医中药杂志

Precancerous lesions of gastric cancer (PLGC) is a pathological change accompanied by intestinal metaplasia and dysplasia on the basis of chronic atrophic gastritis. It is also an important stage of "inflammation-cancer transformation" on gastric mucosa. Paying attention to the intervention of PLGC has important value and significance for the secondary prevention of gastric cancer. PLGC has the characteristics of occult onset, toxin damaging collaterals, and long course of disease, which is highly consistent to the pathogenesis characteristics of incubative pathogenic factors. Based on the relevance of incubative pathogenic factors and PLGC, treatment of PLGC from the perspective of incubative pathogenic factors should be mainly strengthening the spleen and stomach, and combined with the methods of regulating qi and dissipating dampness, and removing blood stasis and detoxification. It should also pay attention to the prognosis.Paying attention to the body-mind treatment can reduce the re-occurrence , so as to provide a new way of thinking for treating PLGC from incubative pathogenic factors.

Analysis of the molecular mechanism of Indigo Naturalis in the treatment of ulcerative colitis based on GEO Chip and network pharmacology / 国际中医中药杂志

Objective:The mechanism of Indigo Naturalis in the treatment of ulcerative colitis (UC) was predicted by GEO chip combined with network pharmacology, and preliminarily verified by molecular docking. Methods:The main active components and targets of Indigo Naturalis were obtained by searching TCMSP, SymMap database, SwissTargetPrediction and Pharmmapper. The UC disease targets were obtained from DrugBank database, OMIM database, TTD database, Disgenet database and GEO gene chips. Venn diagram was used to show drug-disease common targets. The protein-protein interaction (PPI) network of intersection targets was analyzed by String platform, and Cytoscape 3.8.2 software was used to construct the PPI network of components and disease targets. Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis were performed on the core targets. AutoDock Vina 1.2.1 was used for molecular docking, and the results were visualized by Discovery studio Visualizer. Results:A total of 10 active components and 184 compound targets of IN-UC, of which 42 were core targets, were enriched and analyzed by GO and KEGG. The therapeutic effect of Indigo Naturalis on UC may involve activation of various process, such as reactive oxygen species metabolism, heme binding, protein phosphatase binding, secretory granule exocytosis, cytoplasmic vesicles, cell focal adhesion and cell substrate connection, and regulates PI3K/Akt signal pathway, human cytomegalovirus infection signal pathway, EB virus infection signal pathway HF1 signaling pathway and insulin resistance signaling pathway to treat UC. Conlusion:Indigo Naturalis has the characteristics of multi-component, multi target and multi pathway in the treatment of ulcerative colitis. Through PTGS2, CAT and other core targets, it can regulate PI3K/Akt signal pathway, human giant cell signal pathway, HIF-1 signal pathway to play a therapeutic role.

Association Between Daily Executive Function and Core Symptoms， Attention Deficit-Hyperactivity Symptoms in Children with Autism Spectrum Disorder / 中山大学学报(医学科学版)

ObjectiveTo explore the association between daily executive function and core symptoms， the symptoms of attention deficit hyperactivity disorder （ADHD） in children with autism spectrum disorder （ASD）， and the moderating effect of theory of mind and other cognitive abilities on this association. MethodsChildren aged 6-12 years with ASD were recruited， and 86 children were identified according to the inclusion and exclusion criteria. Wechsler Intelligence Test for Children， Fourth Edition （WISC-Ⅳ）， Strange Story Test （SST） and Behavior Rating Inventory of Executive Function （BRIEF） were used to evaluate children's cognitive ability. Swanson Nolan and Pelham-Version Ⅳ Scale （SNAP-Ⅳ）， Social Responsiveness Scale （SRS）， and Repetitive Behavior Scale-Revise （RBS-R） were used to assess the severity of ADHD symptoms， social impairment， and repetitive stereotyped behavior. Multiple linear regression was used to explore the association between daily executive function and ADHD symptoms， social impairment， repetitive stereotyped behaviors. ResultsAfter controlling for the score of strange stories， verbal comprehension index （VCI） and other factors， the full scale score and each index of BRIEF were positively correlated with full scale score of SNAP （b = 0.619-0.741， b’ = 0.637-0.755）， SRS （b = 0.928-1.200， b’ = 0.417-0.513） and RBS-R （b = 0.326-0.525， b’ = 0.339-0.520） in children with ASD （P< 0.05）， and the SNAP total score was more strongly correlated with the full scale BRIEF score and each index score （b’ = 0.637-0.755，P< 0.01）. In addition to daily executive function， strange stories score （b = -2.218- -1.839） and age （b = 3.181-4.037） were also the important factors affecting the social function of children with ASD （P< 0.01）. There were no moderating effects of strange stories score and age on the association between BRIEF score and full scale score of SNAP， SRS， and RBS-R（P> 0.05）. ConclusionThe deficits of daily executive function in school-aged ASD children are significantly associated with core symptoms and ADHD symptoms， and the association is independent of other cognitive domains， such as theory of mind and verbal comprehension intelligence quotient.

Discrepancy between behavioral-indicated and perceived candidacy for HIV pre-exposure prophylaxis among men who have sex with men in Chengdu, China / 北京大学学报(医学版)

OBJECTIVE@#To explore the discrepancy between behavioral-indicated candidacy and perceived candidacy (behavioral-perceived gap) and its associated factors of human immunodeficiency virus (HIV) pre-exposure prophylaxis (PrEP) among men who have sex with men (MSM), so as to identify the focus population of PrEP interventions and to design and implement targeted interventions.@*METHODS@#We recruited a sample of 622 HIV-negative MSM who were regular clients of a community-based organization located in Chengdu, China, from November to December 2021. A cross-sectional questionnaire was used to collect the participants' information on social demographics, PrEP-related knowledge and cognitions, and risk behaviors. In this study, behaviorally eligible for PrEP was defined as performing at least one type of high-risk behavior in the past six months, including inconsistent condom use, sex with an HIV-positive partner, confirmed sexual transmitted infections (STI) diagnosis, substance use, and post-exposure prophylaxis (PEP) experience. Logistic regression models were fitted, and multivariate analyses were adjusted for social demographics.@*RESULTS@#Among the 622 eligible participants, 52.6% (327/622) were classified as behaviorally eligible for PrEP. Only 37.9% (124/327) of the participants perceived themselves as appropriate candidates for PrEP and 62.1% (203/207) had discrepancy between behavioral-indicated and perceived candidacy. 85.9% (281/327) had heard of PrEP, and 14.2% (40/281) accessed PrEP information through health care providers. Of the 327 participants eligible for behavior-indicated PrEP use, about half (47.1%) knew how to obtain PrEP medication and 33.0% had a professional PrEP counseling experience. The majority (93.3%) had no or few friends using PrEP. 54.1% scored eight or above in PrEP knowledge level. 66.7% reported having two or more sexual partners in the past six months. After adjusting for age and recruitment channel, we found six factors that were associated with perceived candidacy for PrEP, including PEP use [adjusted odds ratio (ORA)=2.20; 95% confidence interval (CI): 1.33-3.63], PrEP availability (ORA=1.69; 95%CI: 1.06-2.68), a greater number of PrEP-using friends (ORA=4.92; 95%CI: 1.77-13.65), PrEP know-ledge (ORA=2.21; 95%CI: 1.38-3.56), multiple sexual partnership (ORA=1.77; 95%CI: 1.07-2.94), and perceiving a higher risk of HIV infection (ORA=4.02; 95%CI: 1.73-9.32). Substance use during sex and PrEP information channel were not statistically associated with this beha-vioral-perceived gap.@*CONCLUSION@#We observed a high discrepancy between behavioral-indicated and perceived candidacy for PrEP among Chengdu MSM in China. Future PrEP implementation efforts should be made in skills training in assessing HIV infection risk, increasing PrEP knowledge, providing professional PrEP counselling, and fostering PrEP support environment.

Research Progress of Macropinocytosis in Digestive System Tumors / 肿瘤防治研究

Macropinocytosis, an evolutionarily conserved, actin-dependent form of endocytosis, is involved in various physiological processes, including nutrient absorption, antigen presentation, and cell signaling transduction and migration. Oncogene activation and tumor suppressor inactivation induce macropinocytosis in tumors in the digestive system, involved in tumorigenesis and progression, whereas the inhibition of macropinocytosis slows the aggressive phenotype of digestive system tumors and improves the efficacy of anti-tumor drugs. Macropinocytosis can also be used as a delivery route for anti-tumor drugs. Therefore, macropinocytosis has been widely studied to develop new methods for the treatment of digestive system tumors.This paper reviews the role of macropinocytosis in the body, the regulation of macropinocytosis-related signaling pathway, as well as the mechanism of macropinocytosis in colorectal cancer, pancreatic ductal adenocarcinoma, liver cancer and other digestive system tumors, to provide reference for related researches.

Comparative study of next generation sequencing and immunohistochemistry on molecular classification of endometrial carcinoma / 中华病理学杂志

Objective: To investigate the differences in molecular classification of endometrial carcinoma (EC) between various technical methods and to explore molecular classification schemes suitable for Chinese population. Methods: The study used a comprehensive scheme of next generation sequencing (NGS) and immunohistochemistry for molecular classification of 254 EC cases that were obtained at Department of Pathology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China from April 2021 to March 2022. According to the recommended threshold of Sanger sequencing which was approximate-20% variant allele fraction (VAF), NGS data were extracted to simulate the results of Sanger sequencing. Results: The 254 EC patients had a mean age of 51 years (range, 24 to 89 years). Combination of POLE (9-14 exons), TP53 total exons and microsatellite instability (MSI) detection was a better single scheme than NGS alone, while combination of MSI fragment analysis and conventional immunohistochemistry was the best solution and seemed best aligned with TCGA data and recent studies. POLE ultramuted type, mismatch repair defect type, TP53 mutant type and non-specific molecular characteristic type accounted for 11.4% (29/254), 31.5% (80/254), 22.4% (57/254) and 34.6% (88/254) of the cases, respectively. If Sanger sequencing was adopted for POLE and TP53 detection, the frequencies of these EC types were 9.1% (23/254), 31.5% (80/254), 12.9% (33/254) and 46.6% (118/254), respectively, with greatly increasing non-specific molecular characteristics cases. If POLE was detected by Sanger sequencing and others by immunohistochemistry, they were 9.1% (23/254), 42.2% (92/218), 13.8% (35/254) and 40.9% (105/254), respectively, with increasing the false positive rates of the mismatch repair defect group. Conclusions: Small and medium-sized NGS panels with MSI detection is a better solution than NGS alone. Sanger sequencing is currently available for POLE mutation detection, which is not sensitive enough for TP53 mutation detection, and seems equivalent to the efficiency of TP53 by immunohistochemistry. Further optimization of small and medium-sized NGS panels covering MSI detection and POLE and TP53 full exons may be the best choice for the future to meet national conditions.

A case of Rubinstein-Taybi syndrome caused by a variant of EP300 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic etiology of a child with Rubinstein-Taybi syndrome (RSTS).@*METHODS@#A child who was admitted to the Children's Hospital of Soochow University on October 3, 2021 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected. The child was subjected to whole exome sequencing (WES), and candidate variant was verified by Sanger sequencing of his family members and bioinformatic analysis.@*RESULTS@#The patient, a 9-year-and-４-month-old boy, had manifested unique facies, microcephaly, broad toes, growth retardation, and intellectual impairment. WES revealed that he has harbored a heterozygous c.3604G>T (p.E1202*) variant in exon 20 of the EP300 gene. Sanger sequencing confirmed that neither of his parents has carried the same variant. The variant was not found in the Shenzhou Genome data Cloud, ExAC, 1000 Genomes and gnomAD databases．Analysis with SIFT, PolyPhen-2 and CADD online software has predicted the variant to be harmful. Based on the guidelines formulated by the American College of Medical Genetics and Genomics, the variant was rated as pathogenic (PVS1＋PS2＋PM2_Supporting) .@*CONCLUSION@#The heterozygous c.3604G>T variant of the EP300 gene probably underlay the RSTS type 2 in this child. Above finding has also expanded the variation spectrum of the EP300 gene.

Clinical characteristics and genetic analysis of four patients with central hypothyroidism due to IGSF1 gene variants / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical manifestations and genetic characteristics of patients with congenital central hypothyroidism due to variants of IGSF1 gene.@*METHODS@#Clinical data, results of genetic testing, and follow-up of four patients admitted to Children's Hospital of Soochow University during 2017 to 2021 were retrospectively analyzed.@*RESULTS@#All of the four patients were males. Patient 1 had presented neonatal jaundice, patients 2 and 3 were admitted for growth retardation during childhood, and thyroid function test indicated slightly low free thyroxine (FT4), patient 4 was found to have reduced FT4 in the neonatal period. Genetic testing revealed that all of the four patients have harbored pathogenic variants of the IGSF1 gene, which were all inherited from their mothers. The thyroid functions in all patients were well controlled with oral levothyroxine and regular follow-up.@*CONCLUSION@#Pathogenic variants of the IGSF1 gene probably underlay the congenital central hypothyroidism with a variety of clinical manifestations, and genetic testing can facilitate the diagnosis at an early stage.

Study on the correlation between ceramic and chronic obstructive pulmonary disease in Foshan City / 中华劳动卫生职业病杂志

Objective: To study the correlation between ceramic and chronic obstructive pulmonary disease (COPD), and explore its related risk factors. Methods: In January 2021, five representative ceramic enterprises were selected from Chancheng District, Nanhai District, Gaoming District and Sanshui District of Foshan City. The ceramic workers who came to Chancheng Hospital of Foshan First People's Hospital for physical examination from January to October 2021 were selected as the research objects, and 525 people were included. Conduct questionnaire survey and pulmonary function test. Logistic regresion was performed to analyze the influencing facters of COPD among ceramic workers. Results: The subjects were (38.51±1.25) years old, 328 males and 197 females, and the detection rate of COPD was 9.52% (50/525). The incidence of respiratory symptoms such as dyspnea, chronic cough, wheezing and chest tightness, the detection rates of abnormal lung age, abnormal lung function and COPD in males were higher than those in females (P<0.05). The logistic regression analysis showed that male, age, working years, smoking status and family history of COPD were the risk factors for COPD among ceramic workers (P<0.05) . Conclusion: The ceramic workers are the high risk population of COPD. We should do a good job in health education, and do a regular physical examination to find the changes of lung function in time, and prevent the occurrence of COPD as soon as possible.

Effect of acupotomy on the fat infiltration degree of lumbar multifidus muscle in patients with lumbar disc herniation after percutaneous transforaminal endoscopic discectomy / 中国针灸

OBJECTIVE@#To observe the effect of acupotomy on the fat infiltration degree of lumbar multifidus muscle (LMM) in patients with lumbar disc herniation after percutaneous transforaminal endoscopic discectomy (PTED).@*METHODS@#A total of 104 patients with lumbar disc herniation treated with PTED were randomly divided into an observation group (52 cases, 3 cases dropped off) and a control group (52 cases, 4 cases dropped off). Patients of both groups received rehabilitation training of two weeks 48 h after PTED treatment. The observation group was treated with acupotomy (L3-L5 Jiaji [EX-B 2]) once within 24 h after PTED. In the two groups, the fat infiltration cross sectional area (CSA) of LMM was compared before and 6 months after PTED, the visual analogue scale (VAS) score and Oswestry disability index (ODI) score were observed before and 1, 6 months after PTED. The correlation between fat infiltration CSA of LMM in each segment and VAS score was analyzed.@*RESULTS@#Six months after PTED, the fat infiltration CSA of LMM in L4/L5 and the total L3-S1 segments of the observation group was lower than that before PTED (P<0.05), and the fat infiltration CSA of LMM in L4/L5 of the observation group was lower than the control group (P<0.01). One month after PTED, the ODI and VAS scores of the two groups were lower than those before PTED (P<0.01), and those in the observation group were lower than the control group (P<0.05). Six months after PTED, the ODI and VAS scores of the two groups were lower than those before PTED and 1 month after PTED (P<0.01), and those in the observation group were lower than the control group (P<0.01). There was a positive correlation between the fat infiltration CSA of LMM in the total L3-S1 segments and VAS scores in the two groups before PTED (r = 0.64, P<0.01). Six months after PTED, there was no correlation between the fat infiltration CSA of LMM in each segment and VAS scores in the two groups (P>0.05).@*CONCLUSION@#Acupotomy can improve the fat infiltration degree of LMM, pain symptoms and activities of daily living in patients with lumbar disc herniation after PTED.

Progress in research of quantification of biological age / 中华流行病学杂志

Biological age has been proved to be better than chronological age to measure the real difference of aging among individuals, but no consensus has been reached in the quantification of biological age in the field of aging research. In this paper, we summarize some commonly used quantification methods of biological age and discuss the its future development.

Association between response to repeated negative HIV testing and risk sexual behaviors in men who have sex with men in Chengdu / 中华流行病学杂志

Objective: To investigate the association between the response to repeated negative HIV testing and the risk sexual behaviors in men who have sex with men (MSM) in Chengdu. Methods: A total of 610 MSM were recruited by convenience sampling method through Chengdu Tongle Health Consultation Service Centre from March to May 2022. Data were collected from the MSM through questionnaire survey, including the demographic characteristics, sexual behaviors in the past 6 months, the response to rerpeated negative HIV testing. Univariate and multivariate logistic regression models were conducted to analyze the association between the response to repeated negative HIV testing and risk sexual behavior. Results: A total of 579 (94.9%) participants participated in the questionnaire survey and 354 (61.1%) subjects were included in the study.For the negative HIV testing, some MSM believed that they had taken effective protection measures (17.03±2.20), some believed that they were lucky (7.50±1.87) and some believed that they were at low risk (8.87±3.62). Multivariate logistic regression model showed that protected sexual behavior was negatively associated with group sex (aOR=0.80, 95%CI: 0.67-0.95), lucky was positively associated with casual sex (aOR=1.20, 95%CI: 1.06-1.35), inconsistent condom use (aOR=1.21, 95%CI: 1.06-1.37), group sex (aOR=1.26, 95%CI: 1.00-1.60), and multiple sexual partners (aOR=1.24, 95%CI: 1.09-1.42) and low risk perception was positively associated with multiple sexual partners only (aOR=1.08, 95%CI: 1.01-1.15). Conclusions: There were high levels of recognition of protected sexual behavior and lucky dimensions in response to repeated negative HIV testing and well risk perception in MSM in Chengdu. In HIV testing and counseling services, intervention and risk warning should be strengthened in MSM who believed that they are lucky to improve their awareness of safe sex and reduce the negative effects of fluke mind.

Molecular genetic characteristics of a family which coinheritance of rare-88 C>G (HBB:c.-138 C>G) β-thalassemia mutation with α-thalassemia and review of the literature / 中华预防医学杂志

The molecular genetic characteristics of a family with rare -88 C>G (HBB: c.-138 C>G) β-thalassemia gene mutation were studied using cohort study. The cohort study was conducted from June to August 2022 by Prenatal Diagnosis Center of Sanya Women and Children's Hospital Managed by Shanghai Children's Medical Center. The phenotype and genotype were analyzed by hematological cytoanalyzer, automatic electrophoretic analysis system, and next-generation sequencing (NGS). And then, Sanger sequencing was used to verify the rare gene results. The results showed that the proband, her father, her uncle and her younger male cousin had discrete microcytosis (MCV 70.1 fl, 71.9 fl, 73.1 fl and 76.6 fl, respectively) and hypochromia (MCH 21.5 pg,22.0 pg,22.6 pg and 23.5 pg, respectively), elevated hemoglobin A2 level (5.3%, 5.4%, 5.4% and 5.5%, respectively), slightly elevated or normal fetal hemoglobin (Hb F), but no anemia. The proband was identified to have co-inherited ɑ-thalassemia (Hb Westmead gene heterozygous mutation, ɑwsɑ/ɑɑ) and β-thalassemia with a rare -88 C>G (HBB: c.-138 C>G) heterozygous mutation (β-88 C>G/βN). Her mother had the same α-thalassemia as the proband. Her father, her uncle and her younger male cousin had the same rare -88 C>G heterozygous mutations as the proband. While her grandmother and younger brother were not carrier of thalassemia. In conclusion, 4 cases of rare -88 C>G(HBB:c.-138 C>G) heterozygous mutation had been detected in a Chinese family. Carriers of this beta-thalassemia are clinically asymptomatic. This study enriches the knowledge of the thalassemia mutation spectrum in Chinese people and provides valuable information for genetic counseling, prenatal diagnosis, and prevention of thalassemia, providing a scientific basis for improving the quality of birth population and preventing birth defects.