中国医学科学院学报最新文献

Hereditary angioedema (HAE) is a rare,unpredictable,autosomal dominant disorder characterized by recurrent swelling in subcutaneous and submucosal tissue.In recent years,the pathophysiology and pathogenesis of HAE have been continuously studied and elucidated.In addition to the genes encoding complement 1 esterase inhibitors,new pathogenic variants have been identified in the genes encoding coagulation factor Ⅻ,plasminogen,angiopoietin-1,kininogen,heparan sulfate 3-O-sulfotransferase 6,and myoferlin in HAE.Moreover,different pathogenic variants have different mechanisms in causing HAE.In addition,the pathogenic genes of some patients remain unknown.This review summarizes the recent progress in the classification,epidemiology,pathophysiology,and pathogenesis of HAE,aiming to provide ideas for further fundamental research,clinical diagnosis,and drug development of HAE.

Objective To explore the clinical features and treatments of Chinese patients with bullous pemphigoid (BP) induced by immune checkpoint inhibitors (ICI). Methods A retrospective analysis was conducted on 18 Chinese patients with ICI-induced BP treated in the Peking Union Medical College Hospital and 14 Chinese patients with this disease reported in the literature.Furthermore,the research data of non-Chinese patients were used for comparison to outline the clinical features and treatment responses of the Chinese patients. Results A total of 32 patients (21 males and 11 females) were enrolled,and all of them presented BP induced by programmed death-1/programmed death ligand-1 inhibitors.Compared with non-Chinese patients,the Chinese patients with ICI-induced BP showed low average ages [(65.2±9.5) years vs. (69.9±10.3) years,P=0.020],increased proportion of BP induced by tislelizumab (28.1% vs. 0,P<0.001),decreased proportions of BP induced by pembrolizumab (18.8% vs. 39.4%,P=0.029) and nivolumab (3.1% vs. 52.8%,P<0.001),and decreased proportion of primary malignant melanoma (9.4% vs. 43.3%,P<0.001).The incidence of pruritus (96.9% vs. 66.1%,P<0.001) and mucosal involvement (59.4% vs. 15.7%,P<0.001) in the Chinese patients were higher than those in the non-Chinese patients.The proportions of the Chinese patients treated with tripterygium glycosides (9.4% vs. 0,P=0.008),dupilumab (18.8% vs. 0.8%,P<0.001),and topical corticosteroids (87.5% vs. 53.5%,P<0.001) were higher than those of non-Chinese patients. Conclusions The Chinese patients with ICI-induced BP tend to have a younger age and a higher probability of BP induced by tislelizumab than the non-Chinese patients.Unlike that in the non-Chinese patients,the primary tumor in the Chinese patients with ICI-induced BP is predominantly lung cancer.Pruritus is more obvious,and mucosal involvement is more common in the Chinese patients.Systemic corticosteroid therapy is the international standard treatment for ICI-induced BP,while tripterygium glycosides and dupilumab are characteristic therapies in China.

Peripheral arterial disease(PAD)is a common atherosclerotic cardiovascular disease.The patients with this disease experience pain during exercise,which is relieved after rest.Exercise interventions,dietary interventions,and combined interventions can treat PAD via different mechanisms.Aerobic exercise,resistance exercise,and combined exercise can increase muscle strength and improve cardiorespiratory fitness to regulate vascular endothelial adhesion.Dietary interventions,such as dietary fibre,polyunsaturated fatty acids,and antioxidants,can affect plaque formation via anti-inflammatory and antioxidant mechanisms.The combined exercise and dietary interventions can have synergistic effects.This article reviews the relationship between the two interventions and PAD and describes the current status of research on different interventions,providing a scientific basis for the prevention and treatment of PAD.

Objective To compare the safety and efficacy of fertility-sparing surgery in patients with ovarian borderline tumors (BOT). Methods A total of 121 BOT patients undergoing fertility-sparing surgery between January 2010 and October 2022 were retrospectively analyzed.The univariate analysis,multivariate analysis,and survival curves were employed to evaluate the clinicopathological and surgical variables and fertility. Results The 121 BOT patients included in this study showed the 5-year recurrence-free survival (RFS) rate of 65.8% and the recurrence rate of 30.5%.A total of 53 patients attempted to conceive and 40 (33.06%) of the patients achieved successful pregnancy.Different methods of fertility-sparing surgery did not affect the tumor recurrence rate,RFS,or pregnancy rate.The multivariate analysis indicated that the International Federation of Gynecology and Obstetrics (FIGO) stage ≥Ⅱ was an independent risk factor affecting both postoperative recurrence and RFS (P=0.011,OR=6.504,95%CI=1.534-27.58;P=0.033,HR=2.589,95%CI=1.082-6.194) in BOT patients.Tissue type (mucinous) was negatively correlated with the risk of recurrence after fertility-sparing surgery (P=0.011,OR=0.270,95%CI=0.099-0.739).The two unilateral surgical methods showed differences in the amount of intraoperative bleeding (P=0.010),postoperative hospital stay (P=0.001),duration of antibiotic use (P=0.002),and tumor rupture rate (P=0.030),which were not significantly different between the two bilateral surgical methods. Conclusions For young patients with fertility requirements,fertility-sparing surgery is safe and effective.After a comprehensive assessment of clinicopathological factors,unilateral cystectomy and bilateral cystectomy may be recommended as the preferred choice of treatment.For the patients with advanced FIGO stages who strongly prefer fertility sparing,fertility-sparing surgery can be performed with fully informed consent,and these patients should attempt to achieve pregnancy as soon as possible after the surgery.

Objective To assess the value of the MRI-based ovarian-adnexal reporting and data system (O-RADS MRI) for the diagnosis of adnexal masses. Methods A total of 407 patients who underwent dynamic contrast enhancement (DCE)-MRI and pathological examination (gold standard) at the Department of Radiology,Central Hospital of Wuhan between May 2017 and December 2022 were enrolled in this study.Two radiologists performed the O-RADS MRI scoring of adnexal masses according to MRI features and calculated the malignancy rate of adnexal masses by O-RADS MRI score,enhancement type,and mass type.Moreover,receiver operating characteristic curves were established to further evaluate the diagnostic values of O-RADS MRI score,enhancement type,and mass type for adnexal masses. Results A total of 502 adnexal masses were identified in the 407 patients enrolled in this study,including 364 benign masses and 138 malignant masses (including junctional masses).Radiologist 1 reported the malignancy rates of 0,0,5.4%,80.0%,and 89.7% and radiologist 2 reported the malignancy rates of 0,0,5.8%,86.2%,and 83.0% for the adnexal masses with the O-RADS MRI scores of 1-5,respectively.With O-RADS MRI ≥4 indicating malignant masses,the sensitivity,specificity,accuracy,positive predictive value,negative predictive value,false negative rate,and false positive rate were 94.2%,93.6%,93.8%,84.9%,97.7%,2.3%,and 15.1% for radiologist 1 and 93.4%,93.6%,93.6%,85.4%,97.4%,3.6%,and 14.6% for radiologist 2,respectively.The malignancy rates of the adnexal masses presenting no enhancement,cystic wall enhancement,type Ⅰ curve,type Ⅱ curve,and type Ⅲ curve were 0,1.3%,5.7%,81.2%,and 89.0% as reported by radiologist 1 and 0,1.2%,11.3%,87.6%,and 80.0% as reported by radiologist 2,respectively.The malignancy rates of the adnexal masses that were cystic lesions,cystic segregated lesions,solid lesions,cystic solid lesions,and cystic solid segregated lesions were 0,7.1%,38.7%,79.1%,and 89.8% as reported by radiologist 1 and 0,8.1%,37.8%,72.4%,and 89.6% as reported by radiologist 2,respectively.With type Ⅱ and type Ⅲ curves as the criteria for malignancy,the sensitivity of radiologists 1 and 2 was lower for cystic segregated lesions,both at 50.0%.For the masses containing solid components,radiologists 1 and 2 demonstrated low specificity,which was 57.7% and 56.5%,respectively.False-positive masses contained solid components and were mostly fibroadenomas or adnexal leiomyomas,while false-negative masses were mostly junctional cystadenomas with no or few solid components. Conclusions The O-RADS MRI risk stratification has a high diagnostic value for adnexal masses.Further evaluation and refinement are needed to reduce the false-positive rate.

This article comprehensively reviews the research progress in the management principles of acute closed soft tissue injuries,summarizing the retention and updates of the four main principles (RICE,PRICE,POLICE,and PEACE&LOVE) at different stages.Traditional methods such as compression,elevation,rest,and protection remain valuable.However,with the advancement in rehabilitation philosophy,early active rehabilitation plays an increasingly important role in the tissue healing process.Traditional cold therapy remains a choice because of its benefits.Non-steroidal anti-inflammatory drugs play a positive role in relieving the acute pain and swelling and improving the function of soft tissue,being preferred by both patients and medical practitioners.Therefore,advantages outweigh disadvantages in the clinical application of non-steroidal anti-inflammatory drugs.Finally,modern medical models have begun to incorporate more social and psychological factors,focusing on patients' mental state and social environment,while guiding patients to actively participate in the rehabilitation process,which can accelerate the recovery process and improve treatment outcomes.

Objective To reveal the spatial distribution patterns of key pollutants in the Huaihe River Basin and quantify the risks and burdens of non-gastrointestinal cancers by the grade of pollution,providing targets and data support for enhanced management of water pollution in the Huaihe River Basin. Methods Surface water quality data of the Huaihe River Basin were obtained from the National Surface Water Environmental Quality Monitoring Network(2021).Incidence data of seven cancers were extracted from the 2019 Annual Report of the China Cancer Registry.Random forest and SHapley Additive exPlanations were employed to select key pollutants,and pollution was graded based on the spatial analysis of the Huaihe River Basin.The cancer risks and population attributable fractions were calculated under pollution grades. Results Five key pollutants linked to cancers were identified,including total nitrogen,total phosphorus,chemical oxygen demand,biochemical oxygen demand after 5 days,and arsenic.Pollution was graded into three levels regarding the combined effects of pollutants.Compared with the low pollution areas,high pollution areas showed increased risks of lung cancer(RR=1.26,95%CI:1.06-1.50),breast cancer(female)(RR=1.46,95%CI:1.21-1.77),pancreatic cancer(RR=1.46,95%CI:1.06-2.01),brain cancer(RR=1.44,95%CI:1.05-1.98),and gallbladder cancer(RR=1.60,95%CI:1.03-2.50).The grade of pollution contributed to more than 5% of cases for most cancers above. Conclusions The potential cancer risks and burdens attributed to surface water pollution cannot be overlooked.Addressing this challenge necessitates close collaboration of various stakeholders to strengthen policy development,enhance environmental governance,and implement public health interventions.

This article reports a patient with peripheral T cell lymphoma following treatment of Hodgkin lymphoma.The biopsy of cervical lymph node initially confirmed classic Hodgkin lymphoma,with Reed-Sternberg cells expressing CD30 and B cell-specific activator.After 2 years,the disease progressed and the patient was diagnosed with peripheral T-cell lymphoma (non-specific type) by lymph node biopsy,with the expression of CD3,CD4,and CD8.The patient was undergoing chemotherapy in November 2023.

Hymenoptera venom-sensitized patients may experience systemic reactions,and severe patients may even present life-threatening symptoms such as collapse and syncope.Here we report a case of anaphylaxis triggered by multiple sensitization with Hymenoptera venom.Clinical diagnosis and in vitro allergen testing showed that the patient developed anaphylaxis to wasp and/or fire ant venom.In clinical practice,allergen testing of patients with anaphylaxis to Hymenoptera venom aims to clarify the sensitizing proteins and lay a foundation for future research on immunotherapy for Hymenoptera venom in China.For Hymenoptera-allergic patients,daily outdoor protection is crucial,and an epinephrine syringe can be carried with them if necessary.

Objective To compare the five-year subjective functional outcomes of single-bundle anterior cruciate ligament reconstruction (ACLR) with three different femoral tunnel positions under arthroscopic guidance. Methods A retrospective study was conducted on the clinical data of 165 patients who underwent ACLR at the Department of Sports Traumatology,Sports Hospital,National Institute of Sports Medicine,General Administration of Sport of China from January 2012 to December 2017.According to femoral tunnel positions,the patients were assigned into three groups of low centre (LC)section (n=53),high centre (HC) section (n=45),and high anterior medial (HAM) section (n=67).The three groups were compared before and 5 years after surgery regarding the following items:international knee documentation committee(IKDC) score,Lysholm score,and ACL-return to sport after injury (ACL-RSI) scale score. Results All patients were followed up for 57-64 months [(60.2±1.52) months].The IKDC scores in the LC,HC,and HAM groups 5 years after surgery were 80.80±10.82,77.36±14.36,and 85.33±7.42,respectively,and the scores were higher than those before surgery (all P=0.002).The HAM group had higher IKDC score than the LC and HC groups 5 years after surgery (P=0.022,P=0.008).The Lysholm scores in the LC,HC,and HAM groups 5 years after surgery were 80.87±10.83,77.67±15.23,and 86.10±7.68,respectively,which were higher than those before surgery (all P=0.002).Moreover,the HAM group had higher Lysholm score than the LC and HC groups (P=0.020,P=0.022).The ACL-RSI scores in the LC,HC,and HAM groups 5 years after surgery were 70.39±17.26,73.58±16.81,and 83.73±11.10,respectively,and the score was higher in the HAM group than in the LC and HC groups (P=0.014,P=0.038). Conclusions The ACL patients treated by ACLR with the HAM section had better rotational stability and subjective function 5 years after surgery.Therefore,we recommend the HAM section as the preferred femoral tunnel position in ACL reconstruction.