Zhonghua nei ke za zhi最新文献

{"title":"[Multiple disciplinary team for Pompe disease].","authors":"G L Liu, Z Y Wu","doi":"10.3760/cma.j.cn112138-20230403-00178","DOIUrl":"https://doi.org/10.3760/cma.j.cn112138-20230403-00178","url":null,"abstract":"庞贝病是由于编码溶酶体内酸性α-葡糖苷酶（acid α-glucosidase，GAA）的基因缺陷所致的常染色体隐性遗传病。早期诊断和治疗干预可有效改善患者预后。由于庞贝病多系统受累，临床表现多样，故需要进行多学科综合管理贯穿患者的筛查诊断及治疗管理全程。现系统性总结庞贝病多学科综合管理的最新研究进展，为临床医师提供参考。.","PeriodicalId":24000,"journal":{"name":"Zhonghua nei ke za zhi","volume":"62 6","pages":"728-732"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9684639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Establishment and validation of a nomogram-based predictive model for idiopathic aldosteronism].","authors":"J Fei,&nbsp;H Shen,&nbsp;S M Yang,&nbsp;Z P Du,&nbsp;J B Hu,&nbsp;H B Wang,&nbsp;G J Qin,&nbsp;H F Ji,&nbsp;Q F Li,&nbsp;Y Song","doi":"10.3760/cma.j.cn112138-20221108-00836","DOIUrl":"https://doi.org/10.3760/cma.j.cn112138-20221108-00836","url":null,"abstract":"<p><p><b>Objective:</b> To establish and validate a nomogram-based predictive model for idiopathic hyperaldosteronism (IHA). <b>Methods:</b> This cross-sectional study was conducted with the collected clinical and biochemical data of patients with primary aldosteronism (PA) including 249 patients with unilateral primary aldosteronism (UPA) and 107 patients with IHA, who were treated at the Department of Endocrinology of the First Affiliated Hospital of Chongqing Medical University from November 2013 to November 2022. Plasma aldosterone concentration (PAC) and plasma renin concentration (PRC) were measured by chemiluminescence. Stepwise regression analysis was applied to select the key predictors of IHA, and a nomogram-based scoring model was developed. The model was validated in another external independent cohort of patients with PA including 62 patients with UPA and 43 patients with IHA, who were diagnosed at the Department of Endocrinology, First Affiliated Hospital of Zhengzhou University. An independent-sample <i>t</i> test, Mann-Whitney <i>U</i> test, and <i>χ</i>² test were used for statistical analysis. <b>Results:</b> In the training cohort, in comparison with the UPA group, the IHA group showed a higher serum potassium level [<i>M</i>(<i>Q</i>₁, <i>Q</i>₃), 3.4 (3.1, 3.8) mmol/L vs. 2.7 (2.1, 3.1) mmol/L] and higher PRC [4.0 (2.1, 8.2) mU/L vs. 1.5 (0.6, 3.4) mU/L] and a lower PAC post-saline infusion test (SIT) [305 (222, 416) pmol/L vs. 720 (443, 1 136) pmol/L] and a lower rate of unilateral adrenal nodules [33.6% (36/107) vs. 81.1% (202/249)]; the intergroup differences in these measurements were statistically significant (all <i>P</i><0.001). Serum potassium level, PRC, PAC post-SIT, and the rate of unilateral adrenal nodules showed similar performance in the IHA group in the validation cohort. After stepwise regression analysis for all significant variables in the training cohort, a scoring model based on a nomogram was constructed, and the predictive parameters included the rate of unilateral adrenal nodules, serum potassium concentration, PAC post-SIT, and PRC in the standing position. When the total score was ≥14, the model showed a sensitivity of 0.65 and specificity of 0.90 in the training cohort and a sensitivity of 0.56 and specificity of 1.00 in the validation cohort. <b>Conclusion:</b> The nomogram was used to successfully develop a model for prediction of IHA that could facilitate selection of patients with IHA who required medication directly.</p>","PeriodicalId":24000,"journal":{"name":"Zhonghua nei ke za zhi","volume":"62 6","pages":"693-699"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9928965","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Clinical features of SF3B1 mutation in patients with myelodysplastic syndrome with excess blasts].","authors":"F He,&nbsp;T Li,&nbsp;Y F Li,&nbsp;P Tang,&nbsp;L N Sang,&nbsp;Y M Huang,&nbsp;L Sun,&nbsp;L Liu","doi":"10.3760/cma.j.cn112138-20220902-00650","DOIUrl":"https://doi.org/10.3760/cma.j.cn112138-20220902-00650","url":null,"abstract":"<p><p><b>Objective:</b> To exploring the clinical features of SF3B1-mutated myelodysplastic syndrome with excess blasts (MDS-EB) and analyzing the association between SF3B1 mutation, and efficacy and prognostic significance for patients with MDS-EB. <b>Methods:</b> This was a retrospective case series study. The clinical data of 266 patients with MDS-EB diagnosed in the First Affiliated Hospital of Zhengzhou University between April 2016 and November 2021 were analyzed. The observed indicators included blood routine counts, mutated genes, overall response rate (ORR), overall survival (OS), progression-free survival (PFS), and leukemia-free survival (LFS). The Kaplan-Meier method was used to depict the survival curves. The Log-rank test method was equally used to compare survival across groups and performed the Cox proportional hazard regression model for prognostic analysis. <b>Results:</b> In 266 patients with MDS-EB, 166 (62.4%) were men, and the median age was 57 (17-81) years. Moreover, there were included 26 and 240 patients in the SF3B1-mutated and SF3B1 wild-type groups. Patients in the SF3B1-mutated group were older [median age 65 (51, 69) years vs. 56 (46, 66) years, <i>P</i>=0.033], had higher white blood cell (WBC) counts [3.08 (2.35, 4.78) × 10⁹/L vs. 2.13 (1.40, 3.77) × 10⁹/L], platelet (PLT) counts [122.5 (50.5, 215.0) ×10⁹/L vs. 49.0 (24.3, 100.8) × 10⁹/L], absolute neutrophil counts (ANC) [1.83 (1.01, 2.88) × 10⁹/L vs. 0.80 (0.41, 1.99) × 10⁹/L]and occurrence of DNMT3A mutation [23.1% (6/26) vs. 6.7% (16/240)] (all <i>P</i><0.05). The ORR were similar in both groups after 2 and 4 cycles of therapy (<i>P</i>=0.348, <i>P</i>=1.000). Moreover, the LFS (<i>P</i>=0.218), PFS (<i>P</i>=0.179) and OS (<i>P</i>=0.188) were similar across the groups. Univariate Cox analysis revealed that SF3B1 mutation did not affect the prognosis of patients with MDS-EB (OS: <i>P</i>=0.193; PFS: <i>P</i>=0.184). <b>Conclusions:</b> Patients with SF3B1 mutation were older, with greater WBC, PLT, and ANC, and SF3B1 mutation easily co-occurred with DNMT3A mutation. From this model, there were no significant differences in efficacy and survival of MDS-EB with or without SF3B1 mutation.</p>","PeriodicalId":24000,"journal":{"name":"Zhonghua nei ke za zhi","volume":"62 6","pages":"681-687"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9636786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[To improve the treatment of spondyloarthritis by managing the standard application of targeted therapy drugs in China].","authors":"X P Tian,&nbsp;X F Zeng","doi":"10.3760/cma.j.cn112138-20221031-00807","DOIUrl":"https://doi.org/10.3760/cma.j.cn112138-20221031-00807","url":null,"abstract":"脊柱关节炎（SpA）是一组常见的慢性炎症性、致残性风湿免疫病，严重影响患者的生活质量和功能。虽然针对SpA发病机制中起关键作用的细胞因子和通路的靶向治疗药物已越来越多地应用于临床，已逐渐成为治疗SpA的基础治疗药物，但目前我国存在靶向治疗药物使用欠规范，生物制剂使用率低、使用时间短、依从性差，及缺乏小分子靶向药物的安全性数据等现象。规范化应用靶向治疗药物有着重要的临床意义。.","PeriodicalId":24000,"journal":{"name":"Zhonghua nei ke za zhi","volume":"62 6","pages":"587-589"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9945221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Diagnosis and treatment of aldosterone-producing adenoma presenting as bilateral adrenal lesions: a case report].","authors":"H Li,&nbsp;Y Pei,&nbsp;G Q Yang,&nbsp;Y J Li,&nbsp;Q Ni,&nbsp;Y L Chen,&nbsp;J M Ba,&nbsp;Z H Lyu,&nbsp;Y M Mu","doi":"10.3760/cma.j.cn112138-20220826-00639","DOIUrl":"https://doi.org/10.3760/cma.j.cn112138-20220826-00639","url":null,"abstract":"正确分型诊断是原发性醛固酮增多症（PA）治疗决策的基础，也是临床难点。肾上腺静脉取血（AVS）一直是PA分型诊断的金标准。基于液相色谱串联质谱法（LC-MS/MS）的类固醇激素谱检查近年在肾上腺疾病诊治中愈发多见。本文报道1例影像上表现为双侧肾上腺病变的PA行AVS联合类固醇激素谱检查完成诊治，并对病例特点、诊治过程进行总结讨论和文献复习，以期为PA的分型诊断和精准治疗提供更多证据及思路。.","PeriodicalId":24000,"journal":{"name":"Zhonghua nei ke za zhi","volume":"62 6","pages":"714-717"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9626864","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Analysis of the clinical characteristics and misdiagnosis of area postrema syndrome manifesting as intractable nausea, vomiting, and hiccups in neuromyelitis optica spectrum disorders].","authors":"S M Zhang,&nbsp;F Qiu,&nbsp;X Sun,&nbsp;H Sun,&nbsp;L Wu,&nbsp;D H Huang,&nbsp;W P Wu","doi":"10.3760/cma.j.cn112138-20220621-00468","DOIUrl":"https://doi.org/10.3760/cma.j.cn112138-20220621-00468","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the misdiagnosis of area postrema syndrome (APS) manifesting as intractable nausea, vomiting and hiccups in neuromyelitis optic spectrum disease (NMOSD) and reduce the risk of misdiagnosis. <b>Methods:</b> We retrospectively analyzed data from NMOSD patients attending the Department of Neurology at the First Medical Center of PLA General Hospital between January 2019 and July 2021. SPSS25.0 was then used to analyze the manifestations, misdiagnosis, and mistreatment of APS. <b>Results:</b> A total of 207 patients with NMOSD were included, including 21 males and 186 females. The mean age of onset was 39±15 years (range: 5-72 years). The proportion of patients who were positive for serum aquaporin 4 antibody was 82.6% (171/207). In total, 35.7% (74/207) of the NMOSD patients experienced APS during the disease course; of these patients, 70.3% (52/74) had APS as the first symptom and 29.7% (22/74) had APS as a secondary symptom. The misdiagnosis rates for these conditions were 90.4% (47/52) and 50.0% (11/22), respectively. As the first symptom, 19.2% (10/52) of patients during APS presented only with intractable nausea, vomiting and hiccups; 80.8% (42/52) of patients experienced other neurological symptoms. The Departments of Gastroenterology and General Medicine were the departments that most frequently made the first diagnosis of APS, accounting for 54.1% and 17.6% of patients, respectively. The most common misdiagnoses related to diseases of the digestive system and the median duration of misdiagnosis was 37 days. <b>Conclusions:</b> APS is a common symptom of NMOSD and is associated with a high rate of misdiagnosis. Other concomitant symptoms often occur with APS. Gaining an increased awareness of this disease/syndrome, obtaining a detailed patient history, and performing physical examinations are essential if we are to reduce and avoid misdiagnosis.</p>","PeriodicalId":24000,"journal":{"name":"Zhonghua nei ke za zhi","volume":"62 6","pages":"705-710"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9574013","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Chinese expert consensus on integrated lipid management in HIV/AIDS].","authors":"","doi":"10.3760/cma.j.cn112138-20230321-00165","DOIUrl":"https://doi.org/10.3760/cma.j.cn112138-20230321-00165","url":null,"abstract":"<p><p>Human immunodeficiency virus (HIV) infection and acquired immunodeficiency syndrome (AIDS) are one of the global public health issues concerning health of human beings. Dyslipidemia is one of the major risk factors for cardiovascular events, while elevation of plasma cholesterol levels is associated with the onset of over 50% coronary heart disease. The incidence risks of cardiovascular diseases are higher in HIV/AIDS patients than those in normal populations. In addition to conventional risk factors, viral duplication and suboptimal treatments increase risks of atherosclerotic coronary vascular disease (ASCVD) in HIV/AIDS patients. Thus, a deep knowledge of lipid metabolism and dysregulation profiles, an efficient control of conventional ASCVD risk factors, as well as strengthened measures to lipid management, are of significance to improve long-term prognosis and life quality for HIV/AIDS patients. However, up to date, there is no particular consensus on lipid management for HIV/ADIS populations under long-term antiretroviral therapies (ART). Hereby, based on current status quo of ART in China and frontier achievements of fundamental researches and clinical trials, we invited domestic experts in fields of infectious diseases and cardiovascular diseases to compose this expert consensus on the integrated management of lipid in HIV/AIDS patients in China.</p>","PeriodicalId":24000,"journal":{"name":"Zhonghua nei ke za zhi","volume":"62 6","pages":"661-672"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9581179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Expert consensus on diagnosis and management of mucormycosis in China].","authors":"","doi":"10.3760/cma.j.cn112138-20220729-00557","DOIUrl":"https://doi.org/10.3760/cma.j.cn112138-20220729-00557","url":null,"abstract":"Mucormycosis is an important invasive fungal disease that is difficult to diagnose and treat, and has a high mortality rate. To improve the diagnosis and treatment of mucormycosis by clinicians, the Medical Mycology Society of Chinese Medicine and Education Association engaged multidisciplinary experts to compile this expert consensus. This consensus refers to the latest international guidelines for diagnosis and treatment of mucormycosis, combined with the characteristics and treatment needs of mucormycosis in China and covers the following eight aspects to provide reference for Chinese clinicians: pathogenic agents, high-risk factors, clinical types, imaging manifestations, etiological diagnosis, clinical diagnosis, treatment, and prevention.","PeriodicalId":24000,"journal":{"name":"Zhonghua nei ke za zhi","volume":"62 6","pages":"597-605"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9571120","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Clinical guideline on diagnosis and management of colon ischemia in the elderly in China].","authors":"","doi":"10.3760/cma.j.cn112138-20220601-00421","DOIUrl":"https://doi.org/10.3760/cma.j.cn112138-20220601-00421","url":null,"abstract":"<p><p>Colon ischemia is relatively common in the aging population, but standardized diagnosis and treatment recommendations for this disease are still lacking. A board of experts was convened by the Committee of Geriatric Gastroenterology, Chinese Society of Gastroenterology, to discuss and elaborate on a guideline for colon ischemia management in the elderly in China based on its experts' experience during clinical practice and recent remarkable global progress regarding colon ischemia. The purpose of this guideline is to establish standardized management of colonic ischemia lesions in the elderly and improve their clinical outcomes.</p>","PeriodicalId":24000,"journal":{"name":"Zhonghua nei ke za zhi","volume":"62 6","pages":"639-646"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9626863","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[The current status and optimization strategies of CAR-T cell therapy in hematological malignancies].","authors":"F C Wang,&nbsp;P Li,&nbsp;A B Liang","doi":"10.3760/cma.j.cn112138-20230410-00191","DOIUrl":"https://doi.org/10.3760/cma.j.cn112138-20230410-00191","url":null,"abstract":"嵌合抗原受体T细胞（CAR-T细胞）疗法已成为治疗某些血液系统恶性肿瘤包括白血病、淋巴瘤和多发性骨髓瘤很有前途的一种治疗方式。然而耐药和疾病复发的出现，也给CAR-T细胞疗法提出了挑战。本文总结了目前CAR-T细胞疗法在中国的审批情况、提高CAR-T治疗效果方面的研究进展以及CAR-T细胞治疗遇到的挑战和未来方向，以期能为后续CAR-T治疗方案的优化提供借鉴。.","PeriodicalId":24000,"journal":{"name":"Zhonghua nei ke za zhi","volume":"62 6","pages":"581-586"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9928962","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}