American Journal of the Medical Sciences最新文献

{"title":"Diagnostic Utility of HBP, PCT, and CRP in Identifying Bacterial Complications in Severe COVID-19","authors":"Ying Cai (M.Med.) ,&nbsp;Yi-Feng Sun (M.Med.) ,&nbsp;Qi-Hui Zhang (BMed) ,&nbsp;Hong Zhang (M.Med.) ,&nbsp;Ping An (BMed) ,&nbsp;Wen-Jia Yu (BMed) ,&nbsp;Feng-Jie Xie (M.Med.)","doi":"10.1016/j.amjms.2025.08.014","DOIUrl":"10.1016/j.amjms.2025.08.014","url":null,"abstract":"<div><h3>Background</h3><div>To address the challenge of delayed bacterial infection diagnosis in critically ill COVID-19 patients, we evaluated the performance of serum procalcitonin (PCT), C-reactive protein (CRP), and heparin-binding protein (HBP), and bronchoalveolar lavage fluid HBP as potential biomarkers for guiding antibiotic therapy.</div></div><div><h3>Methods</h3><div>Patients meeting the inclusion criteria for severe and critical COVID-19 were enrolled as the case group, while age- and gender-matched healthy individuals were selected as the control group. Levels of PCT, CRP, and HBP were measured. The case group was further stratified based on bacterial culture results, and differences in serum, sputum, or bronchoalveolar lavage fluid markers were subjected to statistical analysis.</div></div><div><h3>Results</h3><div>Plasma levels of PCT and HBP were significantly higher in patients with bacterial infection compared to both the COVID-19 group and the healthy control group, while CRP was only significant in distinguishing cases from the healthy control group. The AUC for PCT in differentiating COVID-19 patients from those with bacterial infection was 0.937 with a sensitivity of 0.828 and specificity of 0.933, while the AUC for CRP was 0.564 with a sensitivity of 0.828 and specificity of 0.400. The AUC for HBP was 0.775 with a sensitivity of 0.690 and specificity of 0.967. The combined detection of PCT+CRP+HBP exhibited the highest diagnostic performance, with an AUC of 0.978, a sensitivity of 0.966, and a specificity of 0.933.</div></div><div><h3>Conclusions</h3><div>The combined detection of PCT, CRP, and HBP can enable more precise classification of COVID-19 patients with concurrent bacterial infections and inform the optimal timing of antibiotic initiation.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"370 5","pages":"Pages 458-465"},"PeriodicalIF":1.8,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144984500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Critical shortage of dedicated infectious disease specialists persists in Japan","authors":"Hagiya Hideharu","doi":"10.1016/j.amjms.2025.08.012","DOIUrl":"10.1016/j.amjms.2025.08.012","url":null,"abstract":"","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"370 5","pages":"Pages 505-506"},"PeriodicalIF":1.8,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144862751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"TGF-β induces a decrease in CAPZA1 expression to promote the invasiveness of hepatocellular carcinoma cells","authors":"Le Xiao MD ,&nbsp;Li Cao MD ,&nbsp;Zhulin Luo MD ,&nbsp;Shuguo Zheng MD ,&nbsp;Deng Huang MD","doi":"10.1016/j.amjms.2025.07.013","DOIUrl":"10.1016/j.amjms.2025.07.013","url":null,"abstract":"<div><h3>Background</h3><div>CAPZA1 is underexpressed in hepatocellular carcinoma (HCC), and its downregulation promotes the epithelial–mesenchymal transition of HCC cells by regulating F-actin remodeling. However, the role of CAPZA1 in enhancing the invasiveness of HCC cells and the mechanism underlying its low expression in this context remain unclear. Therefore, in the present study, we investigated the molecular mechanism underlying the downregulated CAPZA1 expression and its role in enhancing the invasiveness of HCC cells.</div></div><div><h3>Methods</h3><div>The molecular mechanism of TGF-β-induced low CAPZA1 expression was explored using in vitro and in vivo models. RNA interference and lentiviral infection were used to modulate CAPZA1 expression, and plasmid transfection was used to modulate GATA3 expression. We confirmed the transcriptional regulation of CAPZA1 by GATA3 through a ChIP assay. Additionally, we employed a FITC-gelatin degradation experiment to evaluate the invasiveness of HCC cells. Immunofluorescence analysis was used to examine the co-localization of F-actin with cortactin, as well as of F-actin with black spots in FITC-gelatin, thereby quantifying invadopodia of HCC cells. Finally, we observed the effect of the TGF-β/GATA3/CAPZA signaling pathway on HCC metastasis by inhibiting TGF-β with small-molecule inhibitors in nude mice.</div></div><div><h3>Results</h3><div>Downregulation of CAPZA1 promoted the invasiveness of HCC cells by regulating invadopodia marker expression, quantity, and function. GATA3 was identified as a transcription factor that regulates CAPZA1 expression, and TGF-β inhibited CAPZA1 expression by inducing low GATA3 expression. The small-molecule inhibitor SB431542, which targets the TGF-β signaling pathway, effectively suppressed HCC metastasis in nude mice and concurrently inhibited CAPZA expression in HCC tissues.</div></div><div><h3>Conclusions</h3><div>TGF-β lowers the expression of the transcription factor GATA3, thereby downregulating CAPZA1 expression and enhancing the invasiveness of HCC cells, possibly by regulating invadopodia formation. Targeting the TGF-β/GATA3/CAPZA1 signaling pathway can effectively inhibit HCC metastasis.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"370 5","pages":"Pages 486-495"},"PeriodicalIF":1.8,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144839587","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cardiovascular health and gender minority stress in transgender and gender diverse adults: A cross-sectional study","authors":"Srinivas Sowmiyanarayanan ,&nbsp;Rajan Karsan ,&nbsp;William L. Deppe ,&nbsp;Jose N. Binongo PhD ,&nbsp;Vin Tangpricha MD, PhD","doi":"10.1016/j.amjms.2025.08.008","DOIUrl":"10.1016/j.amjms.2025.08.008","url":null,"abstract":"<div><h3>Background</h3><div>Transgender and gender diverse (TGD) people may take gender affirming hormone therapy (GAHT) to affirm their gender identity and improve quality of life. The cardiovascular health (CVH) impacts of GAHT are not well described. TGD individuals may also experience gender minority stress (GMS), typically caused by discrimination and transphobia, which may adversely affect CVH. The purpose of this study is to evaluate the CVH and gender minority stress of TGD adults receiving GAHT.</div></div><div><h3>Methods</h3><div>This observational study was approved by the Emory University Institutional Review Board. TGD adults (18–75 years) were recruited from Emory endocrinology outpatient clinics. CVH was measured using American Heart Association’s Life’s Essential 8 (LE8) tool. Data from electronic medical records were combined with administered questionnaire responses to calculate LE8 and GMSR scores.</div></div><div><h3>Results</h3><div>From October 2023 to April 2025, 98 TGD adults were screened and 95 were enrolled. Nine participants were excluded for incomplete questionnaires and/or medical records. Of 86 participants (mean age: 33.8 ± 1.4 years) with complete data, the mean LE8 score was 69.4 ± 1.3 and there was no significant difference based on sex assigned at birth. The lowest three sub scores were diet (37.7 ± 1.8), body mass index (BMI) (61.6 ± 4.0), and physical activity (63.4 ± 3.9), matching the lowest three subscores found in the general United States population. No statistically significant associations were found between GMSR and LE8 scores in this study.</div></div><div><h3>Conclusions</h3><div>Factors beyond hormone therapy such as diet, BMI, and physical activity should be considered for driving CVH deficits in the TGD adult population. Further research is needed to understand longitudinal changes in CVH and the impact of GMS on CVH.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"370 5","pages":"Pages 445-451"},"PeriodicalIF":1.8,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144801390","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between serum osmolality and the risk of ventilator-associated pneumonia in patients undergoing prolonged mechanical ventilation: a retrospective cohort study from MIMIC-IV database","authors":"Mengyi Wang MD, PhD ,&nbsp;Lili Hu MD, PhD ,&nbsp;Dandan Zhang MD, PhD ,&nbsp;Yong Liu MD, PhD ,&nbsp;Fangfang Yang MD, PhD","doi":"10.1016/j.amjms.2025.08.009","DOIUrl":"10.1016/j.amjms.2025.08.009","url":null,"abstract":"<div><h3>Background</h3><div>The study aimed to investigate the relationship between serum osmolality with the risk of ventilator-associated pneumonia (VAP) and in-hospital mortality in patients with prolonged mechanical ventilation (PMV).</div></div><div><h3>Method</h3><div>This study was a retrospective cohort study with data derived from the Medical Information Mart for Intensive Care database. Patients were categorized into two groups based on a serum osmolality cutoff of 295 mmol/L, with the reference group having values below 295 mmol/L. The primary outcome variable was the occurrence of VAP. The secondary outcome was in-hospital mortality. Logistic and Cox regression models assessed the effects of serum osmolality on VAP risk and in-hospital mortality, respectively, with sensitivity analysis conducted post-propensity score matching (PSM).</div></div><div><h3>Results</h3><div>The study included a total of 6749 patients a median follow-up duration along with the first and third quartiles of 9.23 (5.96, 15.95) days. Among the included patients, 574 cases of VAP occurred, and 1143 patients died in the hospital. The analysis revealed that compared to the reference group with serum osmolality &lt;295 mmol/L, serum osmolality ≥295 mmol/L was associated with a higher risk of VAP occurrence [odds ratio (OR): 1.36, 95 % confidence interval (CI): 1.11–1.67] and a higher risk of in-hospital mortality [hazard ratio (HR): 1.22, 95 %CI: 1.06–1.40] (all <em>P</em> &lt; 0.05). The analysis results after PSM matching were still significant (all <em>P</em> &lt; 0.05).</div></div><div><h3>Conclusions</h3><div>Serum osmolality at the initiation of ventilation significantly correlated with the risks of VAP occurrence and in-hospital mortality in patients on PMV. This study highlights the importance of maintaining serum osmolality for patients undergoing PMV.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"370 5","pages":"Pages 436-444"},"PeriodicalIF":1.8,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144805568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of testosterone deficiency and therapy on the cardiometabolic syndrome in men","authors":"Farid Saad DVM, PhD ,&nbsp;Abdulmaged M Traish PhD","doi":"10.1016/j.amjms.2025.08.004","DOIUrl":"10.1016/j.amjms.2025.08.004","url":null,"abstract":"<div><h3>Background</h3><div>Testosterone (T) is a metabolic, sexual, and vascular hormone that has an important metabolic function in many tissues and organs and plays a key role in maintaining human physiology and health. A deficiency of T has detrimental effects on men’s health and negatively impacts quality of life. T regulates differentiation, growth and function of muscle tissue and inhibits differentiation into adipocytes and fat accumulation; therefore, it regulates body composition. Thus, T deficiency (TD) may contribute to development of adiposity and metabolic syndrome (MetS). It should be noted that over the past 80 years, only 4 randomized clinical trials with a duration of three years or longer were reported. Hence, understanding the effects of long-term T therapy (TTh) on amelioration of MetS and its components would be attained mostly from observational and registry studies.</div></div><div><h3>Methods</h3><div>A comprehensive review of the current literature utilizing the NCBI library and PubMed were utilized using the key words “metabolic syndrome; testosterone deficiency; testosterone therapy”. Relevant articles were retrieved and a summary of the potential relationship between TD and TTh and MetS were synthesized.</div></div><div><h3>Results</h3><div>The contemporary findings in the medical literature strongly suggest that TD is a predictor of onset of MetS and TTh ameliorates MetS components. Long-term data from several registry studies on the impact of TTh on MetS in men with TD demonstrated unequivocally that long-term TTh (up to 11 years) resulted in reductions in waist circumference (WC), fasting blood glucose, triglycerides (TGs), systolic and diastolic blood pressure and increased high-density lipoprotein cholesterol (HDL). In summary, long-term TTh in men with TD: 1) produces substantial and sustained weight loss; 2) prevents the progression from prediabetes to type 2 diabetes; 3) may result in remission of type 2 diabetes; 4) reduces fasting blood glucose; and 5) reduces cardiovascular events and mortality.</div></div><div><h3>Conclusions</h3><div>In this narrative review, we summarize the available contemporary literature on the potential relationship between TD and development of MetS and discuss the findings of long-term TTh on amelioration of MetS components in men.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"370 5","pages":"Pages 409-419"},"PeriodicalIF":1.8,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144791151","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pyoderma gangrenosum-like ulcer association in small vessel vasculitis (Vasculitis presenting as pyoderma gangrenosum-like ulcer)","authors":"Zaynab Marzuk MD ,&nbsp;Yamen Homsi MD, MPH (Assistant Professor and Section Chief) ,&nbsp;Ata S. Moshiri MD, MPH (Assistant Professor) ,&nbsp;Theodora K Karagounis MD (Clinical Assistant Professor)","doi":"10.1016/j.amjms.2025.08.006","DOIUrl":"10.1016/j.amjms.2025.08.006","url":null,"abstract":"<div><div>Pyoderma gangrenosum (PG) was first described by French Dermatologist Louis-Anne-Jean Brocq as a “rapidly spreading ulceration of soft tissue”.¹ Histologically, PG is a neutrophilic dermatosis presenting as painful ulcerations. It is known to be associated with autoimmune-mediated disorders such as vasculitis.² Timely confirmatory diagnosis with tissue biopsy and management with immunosuppressive agents are critical.¹ We report a unique case of a PG-like lesion related to small vessel vasculitis in a 47-year-old man. Following the initiation of methotrexate (Methotrexate) therapy, the patient’s lesions improved significantly, highlighting the importance of recognizing PG-like lesions associated with vasculitis.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"370 5","pages":"Pages 483-485"},"PeriodicalIF":1.8,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144786310","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Trends and disparities in hypertension-related mortality among adults with obesity in the United States from 2000–2023","authors":"Shaheer Qureshi MBBS,&nbsp;Taimor Mohammed Khan MBBS,&nbsp;Hussain Salim MBBS,&nbsp;Muhammad Salik Uddin MBBS,&nbsp;Zahra Imran MBBS,&nbsp;Dua Ali MBBS,&nbsp;Maryam Sajid MBBS,&nbsp;Hibah Siddiqui MBBS,&nbsp;Saad Ahmed Waqas MBBS","doi":"10.1016/j.amjms.2025.08.003","DOIUrl":"10.1016/j.amjms.2025.08.003","url":null,"abstract":"<div><h3>Introduction</h3><div>Obesity and hypertension are major public health concerns in the United States (US), significantly contributing to mortality. Despite their well-established association, long-term trends and demographic disparities in hypertension-related mortality among individuals with obesity remain underexamined. This study evaluates these trends, focusing on variations by sex, race, geographic region, and urbanization level.</div></div><div><h3>Methods</h3><div>Mortality data from individuals aged ≥25 years with obesity (ICD-10-CM: E66) and hypertension (ICD-10-CM: I10–I15) as underlying or contributing causes of death were extracted from the CDC WONDER database (2000–2023). Age-adjusted mortality rates (AAMRs) were calculated across demographic subgroups. Joinpoint regression estimated the average annual percentage change (AAPC). Sensitivity analyses assessed trends when hypertension was the primary cause of death.</div></div><div><h3>Results</h3><div>Between 2000 and 2023, 410,416 hypertension-related deaths occurred in individuals with obesity. AAMR increased from 2.58 per 100,000 in 2000 to 13.23 in 2023 (AAPC: +7.16 %, 95 % CI: 6.66–8.52, <em>p</em> &lt; 0.001). Males had higher AAMRs than females, with NH Black individuals experiencing the highest mortality rates. Nonmetropolitan areas and Southern US had significantly higher AAMRs. Mortality spiked between 2019 and 2021, likely due to COVID-19, before declining in 2023.</div></div><div><h3>Discussion</h3><div>The rising hypertension-related mortality in individuals with obesity highlights the growing burden of cardiometabolic disease. The COVID-19 pandemic exacerbated these trends, but recent declines suggest potential benefits from improved public health measures.</div></div><div><h3>Conclusions</h3><div>Hypertension-related mortality in individuals with obesity has risen substantially, with significant disparities by sex, race, and geography. Targeted interventions are needed to address these disparities and reduce obesity-related hypertension mortality.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"370 5","pages":"Pages 420-427"},"PeriodicalIF":1.8,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144786312","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predictive value of cardiac markers, atherogenic index of plasma and cardiometabolic index for coronary heart disease in type 2 diabetes mellitus patients with normal body mass index","authors":"Tao Yang MD, PhD,&nbsp;Huijiao Cao MD, PhD,&nbsp;Xinyu Yuan MD, PhD","doi":"10.1016/j.amjms.2025.07.017","DOIUrl":"10.1016/j.amjms.2025.07.017","url":null,"abstract":"<div><h3>Background</h3><div>Prior research has established type 2 diabetes mellitus (T2DM) as a risk factor for the onset of coronary heart disease (CHD). Nevertheless, the impact of abnormal lipid metabolism on the development of CHD in individuals with a normal body mass index (BMI) remains uncertain. The objective of our study was to examine risk factors for CHD in T2DM patients with normal BMI and construct predictive model.</div></div><div><h3>Methods</h3><div>Multivariate logistic and LASSO regression analyses were utilized to examine the independent risk factors associated with CHD. A calibration, decision curve analysis (DCA), and precision-recall (PR) curves were employed to assess the model’s goodness of fit.</div></div><div><h3>Results</h3><div>Seven independent risk factors, namely the duration of T2DM, FBG, HbA1c, NT-proBNP, sST2, AIP, and CMI, contributed to the development of CHD in T2DM patients with normal BMI by logistic and LASSO regression analysis. These factors were utilized to construct a robust and dependable nomogram model for predicting CHD risk with the likelihood-ratio test (χ² = 309.52; <em>P</em> &lt; 0.001), C index (0.964; 95 % CI: 0.945 - 0.983; <em>P</em> &lt; 0.001), and hosmer-lemeshow goodness fit (χ² = 3.7675; <em>P</em> = 0.878).</div></div><div><h3>Conclusions</h3><div>Our findings indicated that impaired lipid metabolism in T2DM patients with a normal BMI is closely linked to the onset of CHD. Effective management strategies, including strict glycemic control, vigilant monitoring of myocardial markers, and regulation of blood lipids and visceral fat, are essential for reducing the incidence of CHD in T2DM patients with normal BMI.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"370 5","pages":"Pages 428-435"},"PeriodicalIF":1.8,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144755541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rheumatologic manifestations in an X-Linked chronic granulomatous disease carrier","authors":"K. Quinn Hudson ,&nbsp;Catherine S. Barker ,&nbsp;Jim C. Oates ,&nbsp;Kelli W. Williams","doi":"10.1016/j.amjms.2025.07.012","DOIUrl":"10.1016/j.amjms.2025.07.012","url":null,"abstract":"<div><div>Chronic granulomatous disease (CGD) is a rare immunologic disorder caused by a defective nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex which consequentially causes immunodeficiency due to an inability to clear some bacteria and fungi. As with many other X-linked genetic conditions, X-linked chronic granulomatous disease (XL-CGD) carriers were thought to be genetic conveyors of disease but not clinically affected. However, recent literature has revealed that XL-CGD carriers can have a marked and debilitating clinical phenotype. Herein, we describe various rheumatologic manifestations in a female X-linked CGD carrier with skewed Lyonization. Her story underscores the autoimmune and inflammatory phenomena that can be associated with XL-CGD carrier state and the complexity of treatment considerations for these manifestations.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"370 4","pages":"Pages 400-404"},"PeriodicalIF":1.8,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144719302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}