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Association between serum homocysteine levels and advanced hepatic fibrosis in alcohol-related liver disease: A cross-sectional study of NHANES. 血清同型半胱氨酸水平与酒精相关性肝病晚期肝纤维化之间的关系:NHANES的横断面研究
IF 1.4 4区 医学
Medicine Pub Date : 2025-07-25 DOI: 10.1097/MD.0000000000043395
Cheng Ma, Xiaoqian Zhang, Wenxin Zhang, Jianzhou Duan, Hui Yang
{"title":"Association between serum homocysteine levels and advanced hepatic fibrosis in alcohol-related liver disease: A cross-sectional study of NHANES.","authors":"Cheng Ma, Xiaoqian Zhang, Wenxin Zhang, Jianzhou Duan, Hui Yang","doi":"10.1097/MD.0000000000043395","DOIUrl":"10.1097/MD.0000000000043395","url":null,"abstract":"<p><p>Homocysteine (Hcy) can induce liver cell damage, but its relationship with alcohol-related liver disease (ALD) has rarely been reported. This study aimed to investigate the association between serum Hcy levels and advanced hepatic fibrosis in patients with ALD. We included 10,033 participants from the 1999 to 2006 National Health and Nutrition Examination Survey. Four hundred ninety six individuals with excessive alcohol consumption, elevated liver enzymes, and no other chronic liver disease were identified as ALD. Fibrosis-4 index, aspartate aminotransferase to platelet ratio index, and Frons index were used as noninvasive indicators for assessing the extent of liver fibrosis. Weighted multivariate logistic regression was used to analyze the correlation between serum Hcy levels and advanced hepatic fibrosis in ALD participants. Compared to non-alcoholic liver disease, ALD participants had higher serum Hcy levels (P < .001). In weighted multivariable-adjusted logistic regression models, we observed a positive correlation between serum Hcy levels and the risk of advanced hepatic fibrosis in ALD (odds ratio [OR] = 1.07, 95% confidence interval [CI], 1.01-1.12, P < .05), and the highest tertile of Hcy was significantly associated with an increased risk of advanced hepatic fibrosis (OR = 3.36, 95% CI, 1.34-8.43, P < .05). In subgroup analyses stratified by gender, physical activity, and body mass index, this association remained significant in men (OR = 1.07, 95% CI, 1.01-1.13, P = .026), vigorously physically active (OR = 1.46, 95% CI, 1.06-2.01, P = .027), and obese participants (OR = 1.36, 95% CI, 1.10-1.67, P = .008). In ALD participants, the area under the working characteristic curve of Hcy for advanced hepatic fibrosis was 0.686 (95% CI, 0.639-0.733). Serum Hcy levels were independently associated with an increased risk of advanced hepatic fibrosis in ALD, especially among men, vigorously physically active, and obese populations. This study supports the predictive value of Hcy for advanced hepatic fibrosis and suggests that Hcy may become a therapeutic entry point for ALD.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 30","pages":"e43395"},"PeriodicalIF":1.4,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12303489/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732187","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association of C-reactive protein-to-lymphocyte ratio (CLR) with liver stiffness measurement (LSM): Findings from NHANES 2017 to 2018. c反应蛋白与淋巴细胞比率(CLR)与肝脏硬度测量(LSM)的关联:NHANES 2017 - 2018的研究结果
IF 1.4 4区 医学
Medicine Pub Date : 2025-07-25 DOI: 10.1097/MD.0000000000043457
Junxi Liu, Qilin Qiao, Mocun Yang, Xue Wang, Boda Zhou
{"title":"Association of C-reactive protein-to-lymphocyte ratio (CLR) with liver stiffness measurement (LSM): Findings from NHANES 2017 to 2018.","authors":"Junxi Liu, Qilin Qiao, Mocun Yang, Xue Wang, Boda Zhou","doi":"10.1097/MD.0000000000043457","DOIUrl":"10.1097/MD.0000000000043457","url":null,"abstract":"<p><p>The progression of nonalcoholic fatty liver disease may lead to liver fibrosis, with liver stiffness measurement (LSM) as an important noninvasive measurement for liver stiffness, indirectly reflecting the degree of liver fibrosis. C-reactive protein-to-lymphocyte ratio (CLR) is an important inflammatory marker which has potential diagnostic value in nonalcoholic fatty liver disease. This study investigates the association between the CLR and LSM. Utilizing data from the National Health and Nutrition Examination Survey 2017 to 2018, we included participants completed the liver transient elastography exam with complete CLR value. We excluded participants lacking ultrasound data on essential covariates. Our study implemented multi-model linear regression analysis, subgroup analysis, to investigate the independent relationship between CLR and LSM. We enrolled a total of 3399 participants (51.3% male and 48.7% female). Participants were divided into 2 groups based on LSM cutoff value of 12.5 kPa, indicating severe liver fibrosis or cirrhosis. We found after adjusting every potential covariates, CLR was significantly associated with LSM (odd ratios = 0.38, 95% confidence interval: 0.28-0.48, P < .001). Subgroup analysis suggested the relationship between CLR and LSM remained consistent, a significant interaction was noted between CLR and LSM accross different race groups. The restricted cubic spline model indicated a significant nonlinear relationship between CLR and LSM. In the adult population above 20 year old of National Health and Nutrition Examination Survey in U.S., lower CLR level was associated with higher prevalence of LSM above 12.5 kPa, which may be influenced by race. These findings indicate CLR as an independent protective factor for clinically significant liver fibrosis.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 30","pages":"e43457"},"PeriodicalIF":1.4,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12303430/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732189","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical application of a deep learning system for automatic mandibular alveolar bone quantity assessment and suggested treatment options using CBCT cross-sections. 深度学习下颌牙槽骨量自动评估系统的临床应用及CBCT横截面治疗建议。
IF 1.4 4区 医学
Medicine Pub Date : 2025-07-25 DOI: 10.1097/MD.0000000000043257
Mardin Othman Rashid, Shanaz Gaghor
{"title":"Clinical application of a deep learning system for automatic mandibular alveolar bone quantity assessment and suggested treatment options using CBCT cross-sections.","authors":"Mardin Othman Rashid, Shanaz Gaghor","doi":"10.1097/MD.0000000000043257","DOIUrl":"10.1097/MD.0000000000043257","url":null,"abstract":"<p><p>Assessing dimensions of available bone throughout hundreds of cone-beam computed tomography cross-sectional images of the edentulous area is time-consuming, focus-demanding, and prone to variability and mistakes. This study aims for a clinically applicable artificial intelligence-based automation system for available bone quantity assessment and providing possible surgical and nonsurgical treatment options in a real-time manner. YOLOv8-seg, a single-stage convolutional neural network detector, has been used to segment mandibular alveolar bone and the inferior alveolar canal from cross-sectional images of a custom dataset. Measurements from the segmented mask of the bone and canal have been calculated mathematically and compared with manual measurements from 2 different operators, and the time for the measurement task has been compared. Classification of bone dimension with 25 treatment options has been automatically suggested by the system and validated with a team of specialists. The YOLOv8 model achieved significantly accurate improvements in segmenting anatomical structures with a precision of 0.951, recall of 0.915, mAP50 of 0.952, Intersection over Union of 0.871, and dice similarity coefficient of 0.911. The efficiency ratio of that segmentation performed by the artificial intelligence-based system is 2001 times faster in comparison to the human subject. A statistically significant difference in the measurements from the system to operators in height and time is recorded. The system's recommendations matched the clinicians' assessments in 94% of cases (83/88). Cohen κ of 0.89 indicated near-perfect agreement. The YOLOv8 model is an effective tool, providing high accuracy in segmenting dental structures with balanced computational requirements, and even with the challenges presented, the system can be clinically applicable with future improvements, providing less time-consuming and, most importantly, specialist-level accurate implant planning reports.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 30","pages":"e43257"},"PeriodicalIF":1.4,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12303508/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732194","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pulmonary tumor thrombotic microangiopathy: A case report and literature review. 肺肿瘤血栓性微血管病1例报告并文献复习。
IF 1.4 4区 医学
Medicine Pub Date : 2025-07-25 DOI: 10.1097/MD.0000000000043284
Lingling Yao, Jun Qin, Jianing Wang, Jinghua Liu
{"title":"Pulmonary tumor thrombotic microangiopathy: A case report and literature review.","authors":"Lingling Yao, Jun Qin, Jianing Wang, Jinghua Liu","doi":"10.1097/MD.0000000000043284","DOIUrl":"10.1097/MD.0000000000043284","url":null,"abstract":"<p><strong>Rationale: </strong>Pulmonary tumor thrombotic microangiopathy (PTTM) is a rare malignancy-associated condition characterized by progressively worsening dyspnea, dry cough, hypoxemia, pulmonary hypertension, right-sided heart failure, and sudden death.</p><p><strong>Patient concerns: </strong>A 60-year-old female presented with intermittent dry cough, dyspnea, and chest pain.</p><p><strong>Diagnoses: </strong>The patient was suspected of having PTTM with a pancreatic primary malignancy, based on admission findings including percutaneous oxygen saturation of 88%, respiratory alkalosis on blood-gas analysis, and elevated levels of d-dimer, NT-proBNP, and multiple tumor markers, combined with computed tomography angiography results showing enlarged lymph nodes (mediastinum, bilateral hila, right cardiophrenic angle, retroperitoneum) and a blurred peripancreatic space.</p><p><strong>Interventions: </strong>Diagnostic investigations included physical examination, blood-gas analysis, laboratory tests (d-dimer, NT-proBNP, tumor markers), and computed tomography angiography of thoracic/abdominal vessels. (No therapeutic interventions detailed).</p><p><strong>Outcomes: </strong>The patient experienced 4 episodes of sudden clinical deterioration, suffered cardiac arrest, and died 9 days after admission. Autopsy was declined by the family.</p><p><strong>Lessons: </strong>PTTM must be considered in the differential diagnosis for patients presenting with dyspnea and new-onset severe pulmonary hypertension without other obvious etiology, particularly when malignancy is suspected.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 30","pages":"e43284"},"PeriodicalIF":1.4,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12303429/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Systematic review and meta-analysis of Guipi Decoction in the treatment of anemia. 桂皮汤治疗贫血的系统评价及meta分析。
IF 1.4 4区 医学
Medicine Pub Date : 2025-07-25 DOI: 10.1097/MD.0000000000043625
Xueyan Lv, Dongmei Wang, Xiangni Zou
{"title":"Systematic review and meta-analysis of Guipi Decoction in the treatment of anemia.","authors":"Xueyan Lv, Dongmei Wang, Xiangni Zou","doi":"10.1097/MD.0000000000043625","DOIUrl":"10.1097/MD.0000000000043625","url":null,"abstract":"<p><strong>Background: </strong>Anemia is a common and widely influential public health problem worldwide. The objective was to conduct a comprehensive and in-depth systematic evaluation of the therapeutic efficacy of Guipi Decoction as an adjuvant treatment for patients with anemia and to offer new ideas for the clinical treatment of anemia.</p><p><strong>Methods: </strong>A comprehensive and systematic literature search was meticulously executed across multiple authoritative databases, including CNKI, Wanfang, VIP, EMBase, Scopus, Web of Science, PubMed, and the Cochrane Library. The search was designed to identify all relevant randomized controlled trials that investigated the application of Guipi Decoction as an adjuvant therapy for Anemia patients. Considering that 1 researcher had written article of this kind in 2020, so the time frame of the search spanned from January 2020 to January 2025. Two independent reviewers selected eligible trials, extracted data, and assessed methodological quality using predefined criteria. Meta-analysis was performed using the standardized software RevMan 5.3.</p><p><strong>Results: </strong>A total of 13 studies were included in the final analysis, involving a cumulative sample size of 954 participants. These participants were randomly allocated to the experimental group and the control group. Pretreatment physiological parameters were comparable between the 2 groups, with no statistically significant differences, indicating a balanced randomization. Posttreatment, the experimental group demonstrated significantly better outcomes across multiple clinically relevant endpoints compared to the control group. The indicators include the effective rate, adverse event rate, hemoglobin, red blood cell, serum iron, serum ferritin, and hematocrit. For the experimental group, there are statistically significant differences in various indicators before and after treatment. At the same time, when compared with the indicators of the control group after treatment, the outcome indicators of the experimental group show a better therapeutic effect, and the differences are statistically significant. This can strongly prove that Guipi Decoction has a definite therapeutic effect on treating anemia.</p><p><strong>Conclusion: </strong>Guipi Decoction can effectively relieve symptoms in anemia patients and reduce risk indicators. It is worthy of further research and promotion.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 30","pages":"e43625"},"PeriodicalIF":1.4,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12303479/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pancreatic acinar cell metaplasia in the stomach of a 12-year-old child: An extremely rare case report. 12岁儿童胃胰腺腺泡细胞化生:一例极为罕见的病例报告。
IF 1.4 4区 医学
Medicine Pub Date : 2025-07-25 DOI: 10.1097/MD.0000000000043591
Muhsen Issa, Wafaa Taleb, Ali Ibrahim, Rana Issa
{"title":"Pancreatic acinar cell metaplasia in the stomach of a 12-year-old child: An extremely rare case report.","authors":"Muhsen Issa, Wafaa Taleb, Ali Ibrahim, Rana Issa","doi":"10.1097/MD.0000000000043591","DOIUrl":"10.1097/MD.0000000000043591","url":null,"abstract":"<p><strong>Rationale: </strong>Pancreatic acinar cell metaplasia of the gastric mucosa is characterized by the presence of clusters of pancreatic-like cells in the stomach. Although there are many instances of this condition in adults described in the medical literature, symptomatic cases in children are exceedingly rare.</p><p><strong>Patient concerns: </strong>A 12-year-old female patient presented to the pediatric clinic at Tishreen University Hospital complaining of postprandial nausea and recurrent periumbilical pain. The patient's symptoms were not accompanied by fever, diarrhea, or constipation. The patient's medical history was unremarkable. No abnormalities were noted on the physical examination.</p><p><strong>Diagnoses: </strong>Biopsies taken during esophagogastroduodenoscopy revealed Helicobacter pylori-positive chronic gastritis.</p><p><strong>Interventions: </strong>The patient was started on omeprazole, clarithromycin, and metronidazole triple therapy, but with minimal improvement. Six months later, esophagogastroduodenoscopy was repeated because her symptoms persisted, and antral biopsies showed clusters of pancreatic-like cells with no signs of H. pylori.</p><p><strong>Outcomes: </strong>The patient was diagnosed with pancreatic acinar cell metaplasia and put on symptomatic treatment, to no avail. One year after the initial diagnosis, esophagogastroduodenoscopy was redone, showing similar findings.</p><p><strong>Lessons: </strong>This report shows the development of pancreatic acinar cell metaplasia in a child after treatment for H. pylori. The clinical significance of pancreatic acinar cell metaplasia is not yet known because of the small number of cases documented in the literature, particularly among children.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 30","pages":"e43591"},"PeriodicalIF":1.4,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12303496/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prognostic and immunological significance of CD82 in cancers with focus on hepatocellular carcinoma: A bioinformatics approach. CD82在肝癌中的预后和免疫学意义:生物信息学方法。
IF 1.4 4区 医学
Medicine Pub Date : 2025-07-25 DOI: 10.1097/MD.0000000000043396
Sikandar Ali, Shiyu Liu, Jiali Chen, Jawad Ullah, Guoyu Mou, Xiaohua Huang
{"title":"Prognostic and immunological significance of CD82 in cancers with focus on hepatocellular carcinoma: A bioinformatics approach.","authors":"Sikandar Ali, Shiyu Liu, Jiali Chen, Jawad Ullah, Guoyu Mou, Xiaohua Huang","doi":"10.1097/MD.0000000000043396","DOIUrl":"10.1097/MD.0000000000043396","url":null,"abstract":"<p><p>Despite significant successes, immunotherapy continues to face numerous challenges in practical applications. CD82 plays an important role in the tumor microenvironment (TME) across various cancers. However, the prognostic value of CD82 in immunotherapy and its role in the immune response remain unclear. The expression levels of CD82 in healthy human tissues were assessed using the human protein atlas (HPA) database tool. The association among CD82 expression levels, copy number variations (CNV), and methylation was explored using the gene set cancer analysis (GSCA) database. Timer tumor immune estimation resource (TIMER) database is used for immune checkpoint and immune infiltration. The LinkedOmincs database is used for enrichment analysis. The statistical inquiry was performed through the R program (version 4.4.1). The result has shown that CD82 mRNA levels were significantly downregulated in most tumor types. Abnormal CD82 mRNA expression was associated with CNV and methylation changes in tumor tissues. Furthermore, several immune checkpoint genes related to CD82 influenced prognosis and were linked to increased immune cell infiltration across various cancer forms, including liver hepatocellular carcinoma (LIHC). The prognosis of the patients under multiple cancer forms, particularly LIHC, was remarkably influenced by CD82, which plays a vital role in modulating immune infiltration. CD82 has the potential to serve as both a prognostic indicator and an immunological biomarker in human cancer. CD82 expression is frequently downregulated across various cancer associated with poor prognosis, influenced by CNV and DNA methylation alterations. Its abnormal expression correlates with changes in immune checkpoint gene activity and enhanced immune cell infiltration, notably in liver. These associations suggest that CD82 plays a significant role in shaping the tumor immune microenvironment and affects patient prognosis. Consequently, CD82 holds promise as both a prognostic biomarker and an immunomodulatory target in cancer immunotherapy.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 30","pages":"e43396"},"PeriodicalIF":1.4,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12303455/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The effectiveness of cognitive behavioral therapy in patients with motor neuron disease: A systematic review. 认知行为疗法在运动神经元疾病患者中的有效性:一项系统综述。
IF 1.4 4区 医学
Medicine Pub Date : 2025-07-25 DOI: 10.1097/MD.0000000000043597
Yue He, Wei Ming, Yinhu Tan, Yang Wang, Mengyao Wang, Hang Li, Zhenzhu Jiao, Yao Hou
{"title":"The effectiveness of cognitive behavioral therapy in patients with motor neuron disease: A systematic review.","authors":"Yue He, Wei Ming, Yinhu Tan, Yang Wang, Mengyao Wang, Hang Li, Zhenzhu Jiao, Yao Hou","doi":"10.1097/MD.0000000000043597","DOIUrl":"10.1097/MD.0000000000043597","url":null,"abstract":"<p><strong>Background: </strong>Motor neuron disease (MND) is a neurodegenerative disorder that causes progressive loss of motor function. With limited disease-modifying drug therapies, cognitive behavioral therapy (CBT) has emerged as a key nonpharmacological intervention. This systematic review evaluated CBT's therapeutic potential across clinical domains to inform psychosocial care of patients with MND.</p><p><strong>Methods: </strong>Comprehensive searches were performed in PubMed, Web of Science, Cochrane Library, and Embase, from inception until February 2025. Two researchers independently screened the literature, extracted data, assessed study quality, and resolved disagreements via consensus or third-party consultation.</p><p><strong>Results: </strong>Five studies involving 561 patients were included. Compared with conventional care, CBT significantly improves patients' quality of life and psychological flexibility. However, the effects on caregiver burden and physical health were not statistically significant. CBT modalities included acceptance and commitment therapy, dialectical behavior therapy, rational-emotive behavior therapy, mindfulness cognitive therapy, and metacognitive training. Traditional CBT demonstrated superior efficacy in reducing anxiety and depression compared to acceptance and commitment therapy.</p><p><strong>Conclusion: </strong>CBT effectively enhances psychological flexibility and quality of life and reduces anxiety and depression in patients with MND. The standardization of outcome measures requires improvement. High-quality randomized controlled trials are needed to further assess CBT's impact of CBT on caregiver burden and patients' physical health.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 30","pages":"e43597"},"PeriodicalIF":1.4,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12303493/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732293","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Three misdiagnoses before a final diagnosis of 17α-hydroxylase/17,20-lyase deficiency: A case report. 17α-羟化酶/17,20裂解酶缺乏症最终诊断前误诊3例
IF 1.4 4区 医学
Medicine Pub Date : 2025-07-25 DOI: 10.1097/MD.0000000000043467
Jian Li, Yangguang Lu
{"title":"Three misdiagnoses before a final diagnosis of 17α-hydroxylase/17,20-lyase deficiency: A case report.","authors":"Jian Li, Yangguang Lu","doi":"10.1097/MD.0000000000043467","DOIUrl":"10.1097/MD.0000000000043467","url":null,"abstract":"<p><strong>Rationale: </strong>17α-hydroxylase/17,20 lyase deficiency (17OHD) is a rare autosomal recessive disorder that accounts for only 1% of all congenital adrenal hyperplasia. It has a high rate of misdiagnosis and mistreatment. However, the cases of repeated misdiagnosis and 3 times of mistreatment are extremely rare, which has important significance in medical education.</p><p><strong>Patient concerns: </strong>In this report, a 54-year-old female patient was transferred to the renal department due to proteinuria on physical examination. Enhanced adrenal computed tomography showed right adrenal hyperplasia with multiple nodules, likely adenoma. Blood tests showed low levels of renin, cortisol, estradiol, and androgens, and elevated levels of adrenocorticotropin. Uterine ultrasound indicated a rudimentary uterus. Genetic testing identified heterozygous variants of C.118A>T and C.316T>C in the CYP17A1 gene.</p><p><strong>Diagnoses: </strong>After revising the diagnosis of primary amenorrhea, adrenal adenoma, and chronic nephritis, 17OHD was finally confirmed.</p><p><strong>Interventions: </strong>The patient received maintenance treatment with hydrocortisone (10 mg at 6 am and 10 mg at 2 pm).</p><p><strong>Outcomes: </strong>Postreatment, blood pressure, potassium levels, and urine protein normalized, with stable cortisol levels.</p><p><strong>Lessons: </strong>This case illustrates the importance of early and correct diagnosis of 17OHD through the patient's tortuous medical experience, and all treatments should be very cautious before the accurate diagnosis of 17OHD. The possibility of 17OHD should be considered in patients with hypertension, hypokalemia, and insufficient puberty. When adult 17OHD patients cannot tolerate long-acting glucocorticoids, they can be replaced with hydrocortisone therapy.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 30","pages":"e43467"},"PeriodicalIF":1.4,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12303438/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Transcription factor Mohawk regulates tendon/ligament development: A narrative review. 转录因子莫霍克调节肌腱/韧带发育:叙述回顾。
IF 1.4 4区 医学
Medicine Pub Date : 2025-07-25 DOI: 10.1097/MD.0000000000043044
Heng Yang, Chan Li, Qian Ding, Tai-Lai Li, Wei Tang, Hong-Jin Sui
{"title":"Transcription factor Mohawk regulates tendon/ligament development: A narrative review.","authors":"Heng Yang, Chan Li, Qian Ding, Tai-Lai Li, Wei Tang, Hong-Jin Sui","doi":"10.1097/MD.0000000000043044","DOIUrl":"10.1097/MD.0000000000043044","url":null,"abstract":"<p><p>Tendon and ligament injuries due to aging or overload are common clinical injuries of the locomotor system, often resulting in limited motion and pain. These diseases are difficult to partially cure because of their poor regeneration ability. Mohawk (Mkx) is a transcription factor that has been verified as critical to tendon/ligament development. Mkx knockout animals exhibit varying degrees of tendon defects, with multiple genes exhibiting different levels of expression. Mesenchymal stem cells and tendon stem/progenitor cells have been studied under circumstances of Mkx overexpression or deficiency, with or without mechanoforce stimulation. To further investigate the underlying mechanisms of tendon and ligament injury repair and develop therapeutic approaches, it is necessary to dig deeper into the molecular networks regulating tendon/ligament development. The study design is a narrative review. A search of the PubMed database was performed to conduct a comprehensive literature review on Mkx. A total of 119 studies were included. Recent studies have reported the importance of Mkx and its related genes on tendon/ligament developmental processes. In addition, numerous articles have also provided therapeutic aspects to Mkx-related tissue repair after injuries. Mkx plays an important role in tendon/ligament development, as well as the pathological processes. The combination of Mkx, Mkx-related molecular interaction networks with mesenchymal stem cells or tendon stem/progenitor cells, and 3-dimensioned cultural systems may offer a new thought for developing new strategies for acute and chronic tendon/ligament diseases.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 30","pages":"e43044"},"PeriodicalIF":1.4,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12303533/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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