Journal of investigative medicine : the official publication of the American Federation for Clinical Research最新文献

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Potential risk genotypes associated with symptoms of pesticide poisoning based on polymorphisms in the XRCC1 (rs25487 and rs1799782), SOD2 (rs4880), PON1 (rs662) and GSTP1 (rs1695) genes, in farmers in the Cienega region. EXPRESS:基于Cienega地区农民XRCC1 (rs25487和rs1799782)、SOD2 (rs4880)、PON1 (rs662)和GSTP1 (rs1695)基因多态性的潜在风险基因型与农药中毒症状相关。
IF 2
Carlos Alfonso Flores Gutiérrez, Erandis Dheni Torres Sánchez, Emmanuel Reyes Uribe, Irán Cortes Trujillo, Gabriela Martínez Cortés, Marco Antonio Hernández Bedolla, Joel Salazar Flores
{"title":"Potential risk genotypes associated with symptoms of pesticide poisoning based on polymorphisms in the XRCC1 (<i>rs25487</i> and <i>rs1799782</i>), SOD2 (<i>rs4880</i>), PON1 (<i>rs662</i>) and GSTP1 (<i>rs1695</i>) genes, in farmers in the Cienega region.","authors":"Carlos Alfonso Flores Gutiérrez, Erandis Dheni Torres Sánchez, Emmanuel Reyes Uribe, Irán Cortes Trujillo, Gabriela Martínez Cortés, Marco Antonio Hernández Bedolla, Joel Salazar Flores","doi":"10.1177/10815589251361367","DOIUrl":"10.1177/10815589251361367","url":null,"abstract":"<p><p>The variants in the genes involved in the defense mechanisms against pesticide poisoning could be the cause to develop symptoms of poisoning with these substances. In this work, we analyzed polymorphisms in genes that defend against pesticide poisoning in 112 farmers from the Cienega region of Jalisco. We genotyped the variants <i>rs25487</i> and <i>rs1799782</i> of the <i>XRCC1</i> gene, <i>rs28360135</i> of the <i>XRCC4</i> gene, <i>rs4880</i> of the <i>SOD2</i> gene and <i>rs662</i> and <i>rs1695</i> of the PON1 and <i>GSTP1</i> genes, respectively. For <i>rs25487</i> (AA vs AG; <i>p</i> = 0.045), significance was found with heart palpitations, <i>rs1799782</i> with salivation (CC vs CT; <i>p</i> = 0.038), <i>rs4880</i> with sweating (TT+TC vs CC; <i>p</i> = 0.026; TC vs CC; <i>p</i> = 0.034) and <i>rs662</i> with cough (AA vs AG+GG; <i>p</i> = 0.001; AA vs AG; <i>p</i> = 0.006; AA vs GG; <i>p</i> = 0.027) and salivation (AG vs GG; <i>p</i> = 0.037). Furthermore, the variant <i>rs1799782</i> found significance with carbamates (<i>p</i> = 0.049) and pyrethroids (<i>p</i> = 0.015), as well as the TT versus TC+CC (<i>p</i> = 0.043) and TT versus TC (<i>p</i> = 0.034) genotypes of <i>rs4880</i> with carbamates. Finally, AA+AG versus GG (<i>p</i> = 0.039) and AG versus GG (<i>p</i> = 0.025) genotypes of the <i>rs1695</i> polymorphism were also significant with carbamates. Except for the <i>XRCC4 rs28360135</i> and <i>GSTP1 rs1695</i> variants, the rest of the polymorphisms showed significance with symptoms of acute poisoning. The presence of <i>XRCC1</i> (<i>rs1799782</i>), <i>SOD2</i> (<i>rs4880</i>) and <i>GSTP1</i> (<i>rs1695</i>) variants may be risk factors for carbamate and pyrethroid poisoning.</p>","PeriodicalId":520677,"journal":{"name":"Journal of investigative medicine : the official publication of the American Federation for Clinical Research","volume":" ","pages":"10815589251361367"},"PeriodicalIF":2.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144629436","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}
引用次数: 0
BMP6 contributes as a blood-based biomarker to clinical discrimination of patients with carotid artery stenosis: Decoding the transcriptome of plaque biology. EXPRESS: BMP6作为一种基于血液的生物标志物有助于颈动脉狭窄患者的临床区分:解码斑块生物学的转录组。
IF 2
Atif Yolgosteren, Ceyda Colakoglu Bergel, Isil Ezgi Eryilmaz, Unal Egeli, Can Kosukcu, Guven Ozkaya, Basak Erdemli Gursel, Murat Bicer, Gulsah Cecener, Efe Ozoglu, Emre Sarandol, Mustafa Tok
{"title":"BMP6 contributes as a blood-based biomarker to clinical discrimination of patients with carotid artery stenosis: Decoding the transcriptome of plaque biology.","authors":"Atif Yolgosteren, Ceyda Colakoglu Bergel, Isil Ezgi Eryilmaz, Unal Egeli, Can Kosukcu, Guven Ozkaya, Basak Erdemli Gursel, Murat Bicer, Gulsah Cecener, Efe Ozoglu, Emre Sarandol, Mustafa Tok","doi":"10.1177/10815589251361364","DOIUrl":"10.1177/10815589251361364","url":null,"abstract":"<p><p>Carotid artery stenosis (CAS) patients are classified as \"symptomatic\" CAS (SCAS) and \"asymptomatic\" CAS (ACAS) based on their symptoms. For SCAS and ACAS, complementary biomarkers are needed since the degree of stenosis is insufficient for selecting a treatment or risk assessment. Carotid plaque ulceration represents vulnerable features, and the symptomatic plaque is considered vulnerable. The current study aimed to investigate a blood-based biomarker to determine the presence of ulceration/symptoms in blood by analyzing plaque material based on surface morphology. RNA-Sequencing was performed using the Ion AmpliSeq Transcriptome Human Gene Expression Panel. Additionally, bioinformatic analysis was performed using ingenuity pathway analysis (IPA). Then, gene expression and protein levels were analyzed using Real-Time quantitative polymerase chain reaction (RT-qPCR) and enzyme-linked immunosorbent assay. Based on IPA, immune responses, and reactive oxygen species (ROS) production, lipid transport is activated in SCAS patients. For ulcerated and smooth plaque comparison, it was determined that lipid and sterol transport, and catabolism of lipids, occurred in ulcerated plaque. Based on RT-qPCR, while tissue inhibitor of metalloproteinase 3 (<i>TIMP3</i>), Desmin (<i>DES</i>), <i>ITLN</i>, Chitinase 3-like 2 (<i>CHI3L2</i>), four and a half LIM domains 5 (<i>FHL5</i>), Clusterin (<i>CLU)</i>, and fin bud initiation factor homolog (<i>FIBIN</i>) genes were statistically significant in plaque material, C-C motif ligand 24 (<i>CCL24</i>), bone morphogenic protein 6 (<i>BMP6</i>), and interleukin 6 (<i>IL6</i>) were also significant in blood. Interestingly, these genes were downregulated in both plaque and blood. For ulcerated plaque, <i>CCL24</i> and <i>BMP6</i> were regulated in both blood and plaque, but only <i>BMP6</i> was determined to be downregulated in both. Finally, multivariate binary logistic regression shows that <i>BMP6</i> had the most remarkable ability to predict the SCAS versus ACAS discrimination (odds ratio = 0.553, p = 0.019). Although more studies are warranted, our results suggest that <i>BMP6</i> seems to be a blood-based biomarker for discriminating SCAS versus ACAS.</p>","PeriodicalId":520677,"journal":{"name":"Journal of investigative medicine : the official publication of the American Federation for Clinical Research","volume":" ","pages":"10815589251361364"},"PeriodicalIF":2.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144629434","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}
引用次数: 0
Differential Oxidative Stress Profiles in Nephrolithiasis and Ureterolithiasis: Biochemical Insights From Serum and Urinary Markers. EXPRESS:肾结石和输尿管结石的不同氧化应激谱:来自血清和尿液标志物的生化见解。
IF 2
Marek Biesiadecki, Krzysztof Balawender, Mateusz Mołoń, Agnieszka Mołoń, Sabina Galiniak
{"title":"Differential Oxidative Stress Profiles in Nephrolithiasis and Ureterolithiasis: Biochemical Insights From Serum and Urinary Markers.","authors":"Marek Biesiadecki, Krzysztof Balawender, Mateusz Mołoń, Agnieszka Mołoń, Sabina Galiniak","doi":"10.1177/10815589251361161","DOIUrl":"10.1177/10815589251361161","url":null,"abstract":"<p><p>Urolithiasis, characterized by the formation of stones within the urinary tract, poses a significant medical challenge influenced by multifactorial origins, including genetic predisposition, diet, and lifestyle factors. This condition predominantly affects males and exhibits varying prevalence rates across different global regions. Oxidative disturbances have been implicated in urolithiasis pathogenesis through mechanisms involving renal inflammation and tissue damage. This study investigated serum and urinary redox markers in 107 patients with kidney or ureteral stones vs 80 healthy controls. To the best of our knowledge, this represents the initial investigation comparing oxidative stress levels in the serum and urine of patients afflicted with nephrolithiasis and ureterolithiasis. We observed significantly elevated levels of advanced oxidation protein products (AOPP, p < 0.01), malondialdehyde (p < 0.001), total oxidant status (TOS, p < 0.001), and oxidative stress index (OSI, p < 0.001) in serum of urolithiasis patients, alongside decreased total antioxidant capacity (TAC, p < 0.001). There were no differences in thiol group and Amadori products concentrations between the studied groups. Moreover, increased concentration of AOPP (p < 0.001), TOS (p < 0.01), and OSI (p < 0.01), as well as decreased level of TAC (p < 0.001), were observed in the urine of urolithiasis patients. Distinct patterns of oxidative stress markers were observed between nephrolithiasis and ureterolithiasis subgroups, underscoring differential oxidative stress profiles in these conditions. These findings may support early diagnosis, risk stratification, and personalized management of urolithiasis patients by revealing distinct oxidative stress profiles associated with stone location (renal vs ureteral).</p>","PeriodicalId":520677,"journal":{"name":"Journal of investigative medicine : the official publication of the American Federation for Clinical Research","volume":" ","pages":"10815589251361161"},"PeriodicalIF":2.0,"publicationDate":"2025-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144629435","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}
引用次数: 0
Impact of the mentor relationship, curriculum effectiveness, and career factors on the success of the KL2 program in fostering research career development among scholars. EXPRESS:导师关系、课程有效性和职业因素对KL2项目在促进学者研究职业发展方面的成功的影响。
IF 2
Nadia Wilson Chavez, Deepa Srikant
{"title":"Impact of the mentor relationship, curriculum effectiveness, and career factors on the success of the KL2 program in fostering research career development among scholars.","authors":"Nadia Wilson Chavez, Deepa Srikant","doi":"10.1177/10815589251359316","DOIUrl":"10.1177/10815589251359316","url":null,"abstract":"<p><p>The National Institutes of Health Clinical and Translational Science Award KL2 Mentored Career Development Programs purpose is to facilitate career transition for junior faculty and postdoctoral fellows. The Icahn School of Medicine at Mount Sinai internally tracks the progress of its scholars. Therefore, trainees might feel less inclined to openly discuss their challenges or successes, potentially due to concerns about privacy or fear of repercussions. This study aims to assess the impact of KL2 programs on scholars' career progression, with a focus on mentorship and curriculum effectiveness. A survey was designed to evaluate scholar experiences and outcomes, encompassing metrics on career satisfaction, program experience, and mentorship quality. The participant group included 32 former KL2 scholars who graduated from the Icahn School of Medicine at Mount Sinai prior to 2024. Quantitative and qualitative analysis were utilized to evaluate the relationships between program elements, such as mentor-mentee relationships, program experiences, and career satisfaction factors. Overall, a response rate of 53.1% (17/32) was achieved. A significant majority of participants (70.6%) emphasized the extreme importance of mentor-mentee relationships in facilitating their career success. Participants expressed overall satisfaction with the program but desired enhanced skills in grant writing and statistics. Burnout and work-life balance challenges were reported by 74% (11/15) of the responders. Our findings revealed that mentor-mentee relationships have a major impact on future career success. Mentor accessibility, additional competencies, and skills to manage work-life balance can further facilitate long-term success of KL2 program scholars.</p>","PeriodicalId":520677,"journal":{"name":"Journal of investigative medicine : the official publication of the American Federation for Clinical Research","volume":" ","pages":"10815589251359316"},"PeriodicalIF":2.0,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144586177","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}
引用次数: 0
Acute graft-vs-host disease, pathophysiology, prevention, and treatment: Something old and something new. EXPRESS:急性移植物抗宿主病,病理生理学,防治:新旧。
IF 2
Nader Cohan, Mani Ramzi, Aren Dermarderosian, Mojtaba Akhtari
{"title":"Acute graft-vs-host disease, pathophysiology, prevention, and treatment: Something old and something new.","authors":"Nader Cohan, Mani Ramzi, Aren Dermarderosian, Mojtaba Akhtari","doi":"10.1177/10815589251359314","DOIUrl":"10.1177/10815589251359314","url":null,"abstract":"<p><p>Acute graft-vs-host disease (aGVHD) is a serious and potentially life-threatening complication that can occur after allogeneic hematopoietic stem cell transplantation (allo-HSCT). It is characterized by the activation of innate immune cells during a cytokine storm, often triggered by tissue injury. aGVHD typically impacts the skin, liver, and gastrointestinal tract, resulting in a range of clinical manifestations that can hinder post-transplant recovery, increase risk of infection, and significantly affect patient survival. This review article integrates current knowledge on the prevalence, risk factors, pathophysiology, clinical presentation, and grading of aGVHD. Additionally, we explore existing strategies for prevention and treatment, including the use of immunosuppressive therapies and novel pharmacological agents. By synthesizing recent research findings and clinical insights, we aim to deepen the understanding of aGVHD and promote advancements in its management, ultimately enhancing the quality of life and survival outcomes for patients undergoing allo-HSCT.</p>","PeriodicalId":520677,"journal":{"name":"Journal of investigative medicine : the official publication of the American Federation for Clinical Research","volume":" ","pages":"10815589251359314"},"PeriodicalIF":2.0,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144577588","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}
引用次数: 0
Clinical association between asthma and anxiety is unrelated to genetic risk factors. EXPRESS:哮喘和焦虑的临床关联与遗传危险因素无关。
IF 2
Garnet Eister, Hui-Qi Qu, Yichuan Liu, Xiao Chang, Hakon Hakonarson
{"title":"Clinical association between asthma and anxiety is unrelated to genetic risk factors.","authors":"Garnet Eister, Hui-Qi Qu, Yichuan Liu, Xiao Chang, Hakon Hakonarson","doi":"10.1177/10815589251359313","DOIUrl":"10.1177/10815589251359313","url":null,"abstract":"<p><p>Although asthma and anxiety are clinically associated, the genetic basis of their co-occurrence has not been established. This study investigates whether the two conditions share underlying genetic risk factors, providing a foundation for understanding their biological interplay. Pediatric patients diagnosed with anxiety or asthma (n = 2168; 1085 females and 1083 males) were compared to controls without either condition (n = 1960; 926 females and 1034 males). To account for potential sex differences, polygenic risk scores (PRS) were analyzed separately for females and males. Cross-examination revealed that asthma patients do not have increased anxiety PRS, nor do anxiety patients have increased asthma PRS. No significant correlation was found between PRS in the control samples for either females (r = 0.008, p = 0.797) or males (r = -0.026, p = 0.396). This study demonstrates that asthma and anxiety do not share significant genetic risk factors, suggesting their clinical association may be driven by environmental factors, psychosomatic interactions, or gene-environment interactions. Sex-specific genetic differences indicate distinct factors influencing the co-occurrence of these conditions in males and females.</p>","PeriodicalId":520677,"journal":{"name":"Journal of investigative medicine : the official publication of the American Federation for Clinical Research","volume":" ","pages":"10815589251359313"},"PeriodicalIF":2.0,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144577589","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}
引用次数: 0
Sestrin-2 levels and insulin resistance in childhood obesity. EXPRESS:儿童肥胖中Sestrin-2水平与胰岛素抵抗
IF 2
Pembe Soylu Ustkoyuncu, Derya Kocer
{"title":"Sestrin-2 levels and insulin resistance in childhood obesity.","authors":"Pembe Soylu Ustkoyuncu, Derya Kocer","doi":"10.1177/10815589251359311","DOIUrl":"10.1177/10815589251359311","url":null,"abstract":"<p><p>Obesity is a worldwide health problem in children as well as adults. There is a relationship between oxidative stress, oxidant-antioxidant imbalance and excessive fat accumulation in visceral tissue. Oxidative stress was shown to be an important role in the development of many obesity-related metabolic disorders. Sestrin-2 is an antioxidant protein induced by oxidative stress, and protects cells against reactive oxygen radicals. Thirty obese children with insulin resistance, 29 obese children without insulin resistance between 10-18 years old and 30 healthy gender and age matched control group were included in the study. Children with a body mass index Z-score above 2, comprised the obesity group. HOMA-IR value above 3.16 was accepted as insulin resistance. Sestrin-2 levels and routine laboratory examinations were studied in these three groups. Body mass index, insulin, HOMA-IR, ALT, total cholesterol, LDL, triglyceride, C-reactive protein, waist circumference, systolic blood pressure, diastolic blood pressure, white blood cell count and uric acid levels were significantly higher in insulin resistance group than control. C-reactive protein, diastolic blood pressure and uric acid levels were found to be higher in both groups compared to the control group. Sestrin-2 levels were elevated in obese children with insulin resistance. Clinical trials number: NCT06779721.</p>","PeriodicalId":520677,"journal":{"name":"Journal of investigative medicine : the official publication of the American Federation for Clinical Research","volume":" ","pages":"10815589251359311"},"PeriodicalIF":2.0,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144577590","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}
引用次数: 0
Validation of a 5-item tool to measure parent assessment of clinician compassion during pediatric visits. EXPRESS:验证一个5项工具,以衡量父母评估临床医生的同情在儿科就诊。
IF 2
Eena S Lin, Alexandra Seabury, Mohammadsadegh Mikaeili, Joshua Bosire, Anthony Mazzarelli, Michael B Roberts, Stephen Trzeciak, Brian W Roberts, Rafat Ahmed
{"title":"Validation of a 5-item tool to measure parent assessment of clinician compassion during pediatric visits.","authors":"Eena S Lin, Alexandra Seabury, Mohammadsadegh Mikaeili, Joshua Bosire, Anthony Mazzarelli, Michael B Roberts, Stephen Trzeciak, Brian W Roberts, Rafat Ahmed","doi":"10.1177/10815589251359684","DOIUrl":"10.1177/10815589251359684","url":null,"abstract":"<p><p>Our objective was to validate a 5-item compassion measurement tool as a reliable measure of patient assessments of clinician compassion in the pediatric outpatient setting. We completed a cross-sectional study in a U.S. academic healthcare system consisting of six pediatric clinics between February and September 2023. We adapted the original 5-item tool to elicit responses regarding the pediatric patient. The measure was disseminated with the Clinician and Group Consumer Assessment of Healthcare Providers and System (CG-CAHPS) survey. We included patients aged <18 years old who had an outpatient clinic visit and had a parent complete the CG-CAHPS survey. Validity testing of the 5-item tool was performed using confirmatory factor analysis. Internal reliability was tested using Cronbach's α, and convergent validity with overall provider rating questions from the CG-CAHPS survey was evaluated using Spearman correlation. We analyzed 640 responses. The median (interquartile range) patient age was 8 (3-13) years, and 47% of patients were female. Sixty-one percent of patients were White/Caucasian and 25% were Black/African American. Confirmatory factor analyses found a good fit. The compassion measure demonstrated good internal consistency (α = 0.97) and convergent validity with overall provider rating (r<sub>s</sub> = 0.63 (95% confidence interval 0.56-0.70)) but reflected a patient experience domain distinctly different from what is currently captured in CG-CAHPS surveys. Our results suggest that the 5-item compassion measure is a valid tool that can reliably and distinctly measure patient assessments of clinician compassion in the pediatric outpatient setting.</p>","PeriodicalId":520677,"journal":{"name":"Journal of investigative medicine : the official publication of the American Federation for Clinical Research","volume":" ","pages":"10815589251359684"},"PeriodicalIF":2.0,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144577591","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}
引用次数: 0
EXPRESS: Mismatch repair (MMR) assay uptake and use in early colorectal cancer patients with MMR deficient and proficient tumors. EXPRESS:错配修复(MMR)测定在早期结直肠癌患者中MMR缺陷和熟练肿瘤的摄取和使用。
Hailey O'Grady, Cassandra Fenlon, Tyler Pretty, Ioannis A Voutsadakis
{"title":"EXPRESS: Mismatch repair (MMR) assay uptake and use in early colorectal cancer patients with MMR deficient and proficient tumors.","authors":"Hailey O'Grady, Cassandra Fenlon, Tyler Pretty, Ioannis A Voutsadakis","doi":"10.1177/10815589251358813","DOIUrl":"https://doi.org/10.1177/10815589251358813","url":null,"abstract":"<p><p>Three biomarkers for immune checkpoint inhibitors- mismatch repair/microsatellite instability, tumor mutation burden, and PD-L1 ligand expression- are currently approved for different indications. The adoption of these biomarkers has gained ground gradually following demonstrated clinical utility. The colorectal cancer database of our cancer program was reviewed and data on the availability and on the results of mismatch repair (MMR) molecular evaluation of patients diagnosed with stage 1 to 3 colorectal cancer over eight years were extracted from medical records. MMR evaluation was available in a higher percentage of patients diagnosed with non-metastatic colorectal cancer in most recent years. MMR was performed more often in patients with more advanced stage (stage 2 and 3) and in patients with right colon locations. MMR deficiency was associated with right colon cancers, high grade and thrombocytosis. The prevalence of MMR deficiency was 23.1% and the main defects leading to MMR deficiency were losses of MLH1 and PMS2 nuclear staining which were present in 86.7% of patients with MMR deficiency. MMR testing showed an increasing up-take over the years, with a significant increase of performance since the approval of immunotherapy in metastatic patients with microsatellite instability/MMR deficiency.</p>","PeriodicalId":520677,"journal":{"name":"Journal of investigative medicine : the official publication of the American Federation for Clinical Research","volume":" ","pages":"10815589251358813"},"PeriodicalIF":0.0,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144556521","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}
引用次数: 0
Classical ECG findings in pulmonary embolism have minimal diagnostic accuracy: A cross-sectional study. 一项横断面研究:肺栓塞的经典心电图表现诊断准确性最低。
Marcos Ferranti Smaniotto, Gabriel Pinheiro Soares Alencar E Silva, Júlia de Novaes Heringer, Marina Teixeira de Carvalho Almeida, Matheus Kiszka Scheffer, Sandro Pinelli Felicioni, Mariana Fuziy Nogueira De Marchi, José Nunes de Alencar
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