中华内科杂志最新文献

{"title":"[A rare case of celiac disease concurrent with ultra-long segment esophageal cancer].","authors":"T Shi, Z Q Li, Ayinuer Maimaitireyimu, Halinan Halike, J Ma, F Gao","doi":"10.3760/cma.j.cn112138-20240930-00641","DOIUrl":"10.3760/cma.j.cn112138-20240930-00641","url":null,"abstract":"","PeriodicalId":68309,"journal":{"name":"中华内科杂志","volume":"64 3","pages":"247-250"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143574634","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":"[Mendelian randomization study on the causal relationship between type 2 diabetes and osteoporosis].","authors":"H Yu, Z B Li, F Hu, N Li, Y H Lu, C L Li","doi":"10.3760/cma.j.cn112138-20241108-00743","DOIUrl":"10.3760/cma.j.cn112138-20241108-00743","url":null,"abstract":"<p><p><b>Objective:</b> To analyze the causal relationship between type 2 diabetes and lumbar bone mineral density and spinal fractures and to further explore the impact of central obesity on the diabetic bone paradox. <b>Methods:</b> A Mendelian randomization (MR) study was implemented. Single nucleotide polymorphisms (SNPs) associated with type 2 diabetes were selected from the data of genome-wide association studies as instrumental variables, with lumbar bone density and spinal fractures as the outcome variables. The inverse variance weighting method, weighted median method, and MR-Egger regression were applied to identify a causal relationship between type 2 diabetes and osteoporosis at the genetic level. Additionally, to analyze the impact of central obesity in the diabetic bone paradox, the waist-to-hip ratio was introduced as a new exposure variable, with type 2 diabetes and lumbar bone density as outcome variables, and the MR method was applied again to uncover the influencing factors. <b>Results:</b> The screening criteria were based on the three main assumptions of MR. Finally, 62 SNPs for type 2 diabetes and 241 SNPs for waist-to-hip ratio were included in the MR analysis. Using inverse variance weighting as the primary analysis, the causal association effect analysis indicated a causal relationship between type 2 diabetes and increased lumbar bone density (<i>OR</i>=1.047 6, <i>P</i>=0.007) and spinal fractures (<i>OR</i>=1.000 9, <i>P</i>=0.014). A causal relationship between waist-to-hip ratio and type 2 diabetes (<i>OR</i>=1.638 6, <i>P</i><0.001) was identified, indicating that the waist-to-hip ratio was a risk factor for type 2 diabetes and may have a causal association with increased lumbar bone density (<i>OR=</i>1.096 3, <i>P</i>=0.044). This suggests that the waist-to-hip ratio may indirectly affect the relationship between diabetes and osteoporosis. The MR-Egger intercept test showed no horizontal pleiotropy in this study. The leave-one-out analysis indicated that no single SNP had a significant impact on the overall results. Furthermore, the MR-pleiotropy residual sum and outlier (MR-PRESSO) test results did not detect any outlier SNPs. <b>Conclusion:</b> MR analysis identified a causal relationship between type 2 diabetes and increased lumbar bone density as well as a higher risk of spinal fractures, a paradox that may be related to central obesity.</p>","PeriodicalId":68309,"journal":{"name":"中华内科杂志","volume":"64 3","pages":"225-233"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143574806","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 characteristics of adult patients with eosinophilic esophagitis in China].","authors":"J H Hu, X Y Zhou, F Yu, C F Xu, Z Shen, H Ma","doi":"10.3760/cma.j.cn112138-20241010-00670","DOIUrl":"10.3760/cma.j.cn112138-20241010-00670","url":null,"abstract":"<p><p><b>Objective:</b> Eosinophilic esophagitis (EoE), an allergen/immune-mediated chronic disorder of the esophagus, is witnessing an incremental rise in its global incidence. However, data in China are very limited. This study aimed to clarify the characteristics of EoE in Chinese adults at our medical center. <b>Methods:</b> We collected information, including clinical characteristics and endoscopic findings, relative to all cases of adult patients who met the pathological diagnostic criteria for EoE at our institution from January 2019 to May 2024. Patients diagnosed with reflux esophagitis (RE) were matched in a 1∶1 ratio based on age and sex, and comparisons were made between the two groups. <b>Results:</b> The overall detection rate of EoE in our hospital was approximately 0.05%, with a trend increasing yearly. In total, 61 patients met the diagnostic criteria for EoE, of whom 42 (68.9%) were male. The median age was 53 years. The clinical manifestations of EoE patients were diverse, with common symptoms including dysphagia, acid reflux, and upper abdominal pain. Serological examination revealed that 23.1% (9/39) of patients had increased absolute eosinophil counts. Allergic diseases were observed in 73.8% (45/61) patients. Most patients exhibited typical mucosal changes in the esophagus during endoscopy, the median EREFS score was 3 points. The most commonly administered treatment included proton pump inhibitors, and 13 patients received steroid treatment. During a follow-up period, 42 patients (68.9%) exhibited clinical symptom improvement or pathological remission. In comparison to Western countries, patients with EoE in China typically presented with milder disease severity and a more favorable prognosis. No significant differences were observed between younger and older adult groups regarding clinical symptoms, the proportion of comorbid allergic diseases, medications, or the rate of improvement (<i>P</i> for all>0.05). Additionally, patients with EoE more commonly presented with dysphagia (29.5% vs. 1.6%, <i>χ</i>²=15.96, <i>P</i><0.001), comorbid allergic diseases (73.8% vs. 13.1%, <i>χ</i>²=45.67, <i>P</i><0.001), increased eosinophil counts (23.1% vs. 3.3%, <i>χ</i>²=7.61, <i>P</i><0.01), and a positive response to corticosteroids when compared to patients with RE. <b>Conclusions:</b> This study systematically determined the clinical characteristics of adult EoE patients in China. Compared to Western countries, patients from China typically presented with milder disease severity and a more favorable prognosis. No significant clinical manifestations or prognosis differences were observed between younger and older patients. EoE can be differentiated from RE based on symptoms, the presence of comorbid allergic diseases, and the degree of serum eosinophil infiltration. For patients suspected of EoE, endoscopic esophageal biopsy will facilitate early diagnosis.</p>","PeriodicalId":68309,"journal":{"name":"中华内科杂志","volume":"64 3","pages":"212-219"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143574744","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":"[Two cases of type 1 autoimmune pancreatitis diagnosed by duodenal papilla biopsy].","authors":"F M Yang, X H Li, D C Wang, Y Y Ran, X Q Li, W Lu, R Zhu","doi":"10.3760/cma.j.cn112138-20240930-00637","DOIUrl":"10.3760/cma.j.cn112138-20240930-00637","url":null,"abstract":"","PeriodicalId":68309,"journal":{"name":"中华内科杂志","volume":"64 3","pages":"251-254"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143574772","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":"[Diagnostic PICALM::MLLT10 fusion by transcriptome sequencing in acute myeloid leukemia and its clinical characteristics].","authors":"J Xia, X H Hu, Y Zhao, X Ma, D P Wu, S N Chen, F Chen","doi":"10.3760/cma.j.cn112138-20240913-00577","DOIUrl":"10.3760/cma.j.cn112138-20240913-00577","url":null,"abstract":"<p><p>A retrospective analysis of clinical data of 8 patients with PICALM::MLLT10 (P/M) fusion gene-positive acute myeloid leukemia (AML) diagnosed by transcriptome sequencing (RNA-seq) at the First Affiliated Hospital of Soochow University from June 2017 to March 2023 was performed. Laboratory findings and treatment status were analyzed, and survival analysis was performed using the Kaplan-Meier method. The 8 patients included 5 males and 3 females, aged 16-35 years, with a median age of 27 years. The platelet count of patients was normal, and 3 patients had mild to moderate anemia. Extramedullary infiltration was present in all patients with clinical manifestations, including 5 patients with mediastinal masses, 2 patients with hepatosplenomegaly, 1 patient with central nervous system leukemia, and 1 patient with cervical lymph node enlargement. Karyotypical analysis revealed 7 patients with an abnormal karyotype, including 6 cases of complex karyotypes. Of these, 4 patients harbored the t(10;11) translocation. The complete remission rate of induction chemotherapy in the patients was 7/8, and 2 patients experienced early recurrence. All patients subsequently underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT), The follow-up period ranged from 86 to 812 days, with a median of 330 days. Among the 8 patients, 3 survived and 5 died due to recurrence. Relapse and death only occurred in the P/M fusion gene-positive patients after transplantation. The overall survival rate at 1 year after transplantation was 37.5%. P/M⁺AML has the characteristics of young age at onset, normal platelet count, high incidence of extramedullary infiltration, and high proportion of complex karyotype. RNA-seq can significantly improve the detection rate of this disease type. Allo-HSCT can partially improve the prognosis of P/M⁺AML, and P/M positivity after transplantation can be a warning sign of recurrence, which is an important factor affecting survival.</p>","PeriodicalId":68309,"journal":{"name":"中华内科杂志","volume":"64 3","pages":"234-238"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143574759","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 novel mutations in the insulin receptor gene of a family with type A insulin resistance syndrome].","authors":"Y J Li, G Q Yang, L Zang, Y Pei, K Chen, J Du, Z H Lyu","doi":"10.3760/cma.j.cn112138-20240915-00582","DOIUrl":"10.3760/cma.j.cn112138-20240915-00582","url":null,"abstract":"<p><p>This study aimed to identify mutations in the human insulin receptor gene (INSR) and investigate their role in the pathogenesis of severe insulin resistance syndrome. Sanger sequencing of the INSR gene was performed on a patient clinically suspected of having type A insulin resistance syndrome admitted to the Department of Endocrinology, the First Medical Center of Chinese PLA General Hospital. Upon identifying mutations, relevant exons were sequenced in her first-degree relatives. Additionally, control groups consisting of individuals with type 2 diabetes and those with normal glucose tolerance were screened for the mutation detected in the patient. Functional predictions of the INSR protein were made using MutationTaster, SIFT, and PolyPhen2 software. A previously unreported heterozygous missense mutation, c.3652G/A (Asp1218Asn), in exon 20 was identified in both the proband and her father. This mutation was not present in any of the control individuals. Multiple prediction tools indicate that this mutation likely disrupts gene/protein structure or function. The c.3652G/A (Asp1218Asn) heterozygous mutation in INSR is a novel variant that plays a significant role in the pathogenesis of severe insulin resistance in this Chinese family.</p>","PeriodicalId":68309,"journal":{"name":"中华内科杂志","volume":"64 3","pages":"239-243"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143574650","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 the bronchial artery embolization in the treatment of hemoptysis].","authors":"","doi":"10.3760/cma.j.cn112138-20241011-00674","DOIUrl":"10.3760/cma.j.cn112138-20241011-00674","url":null,"abstract":"<p><p>Bronchial artery embolization (BAE) plays a crucial role in the treatment of hemoptysis, and its efficacy and safety have been proved. Although BAE is widely used in the treatment of hemoptysis, there is currently no standardized procedure for BAE, and there are significant differences between institutions and operators. To achieve standardization and normalization of the BAE in the treatment of hemoptysis, the Chinese College of Interventionalists (CCI) proposed this expert consensus, which is based on existing evidence and combined with clinical practice in China. This expert consensus is about patient selection, preoperative preparation, intraoperative procedures, postoperative management, efficacy evaluation and follow-up. After multiple rounds of discussion, this \"expert consensus on the bronchial artery embolization in the treatment of hemoptysis\" was proposed.</p>","PeriodicalId":68309,"journal":{"name":"中华内科杂志","volume":"64 3","pages":"191-199"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143574701","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 management of eosinophilic esophagitis: current status and updates].","authors":"D C Wang, R B Li, X Q Li, X M Liu, B G Tuo, R Zhu","doi":"10.3760/cma.j.cn112138-20240930-00629","DOIUrl":"10.3760/cma.j.cn112138-20240930-00629","url":null,"abstract":"","PeriodicalId":68309,"journal":{"name":"中华内科杂志","volume":"64 3","pages":"261-265"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143574747","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":"[Progress in diagnosis and treatment of primary biliary cholangitis].","authors":"Y S Liu, X Y Men, Y L Shang, Y Han","doi":"10.3760/cma.j.cn112138-20240930-00623","DOIUrl":"10.3760/cma.j.cn112138-20240930-00623","url":null,"abstract":"","PeriodicalId":68309,"journal":{"name":"中华内科杂志","volume":"64 3","pages":"270-276"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143574816","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 characteristic analysis of refractory <i>Helicobacter pylori</i> infection of 637 patients].","authors":"B J Suo, Y X Zhang, C L Li, L Y Zhou, Z Q Song","doi":"10.3760/cma.j.cn112138-20241030-00714","DOIUrl":"10.3760/cma.j.cn112138-20241030-00714","url":null,"abstract":"<p><p><b>Objective:</b> To evaluate the effectiveness of empiric eradication therapy recommendations and medication principles for refractory infections based on the 2022 <i>Helicobacter pylori</i> (<i>H. pylori</i>) infection treatment guidelines in China in clinical practice. <b>Methods:</b> A retrospective analysis was conducted to evaluate the eradication efficacy of <i>H. pylori</i> and the safety and treatment compliance among of 637 patients with refractory <i>H. pylori</i> infection in our center over the past 10 years. Risk factors affecting efficacy of <i>H. pylori</i> eradication were evaluated. <b>Results:</b> The overall eradication rate, incidence of adverse reactions and medication percentage of 14-day bismuth quadruple therapy were 92.3%, 40.3% and 92.2%, respectively. The eradication rate, incidence of adverse reactions, and proportion of administered treatments were as follows: 87.3%, 36.4% and 92.7% for amoxicillin+metronidazole; 91.1%, 39.2% and 93.7% for amoxicillin+tetracycline; 92.9%, 23.8% and 94.0% for amoxicillin+furazolidone; 92.1%, 47.1% and 90.0% for tetracycline+metronidazole; 94.5%, 41.7% and 92.0% for tetracycline+furazolidone, and 91.3%, 46.3% and 92.5% for furazolidone+metronidazole. Poor compliance was a risk factor for the failure of eradication therapy (94.7% vs. 64.0%, <i>P</i><0.05). There was no statistically significant difference (<i>P</i>>0.05) in the eradication rate among patients in terms of sex, age, body mass index, smoking status, alcohol consumption, previous eradication frequency, eradication interval, or eradication regimens. <b>Conclusion:</b> The empirical treatment regimens and medication principles recommended in the 2022 <i>H. pylori</i> infection treatment guidelines in China achieve good eradication efficacy, safety, and compliance.</p>","PeriodicalId":68309,"journal":{"name":"中华内科杂志","volume":"64 3","pages":"220-224"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143574742","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}