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A Family With Multiple Lynch Syndrome Mutations: Navigating Counseling Complexities. 一个多林奇综合征突变的家庭：导航咨询的复杂性。
IF 0.6
ACG Case Reports Journal Pub Date : 2025-02-07 eCollection Date: 2025-02-01 DOI: 10.14309/crj.0000000000001606
Rachel Silva-Smith, Gretter Manso, Daniel Andrew Sussman
{"title":"A Family With Multiple Lynch Syndrome Mutations: Navigating Counseling Complexities.","authors":"Rachel Silva-Smith, Gretter Manso, Daniel Andrew Sussman","doi":"10.14309/crj.0000000000001606","DOIUrl":"10.14309/crj.0000000000001606","url":null,"abstract":"<p><p>Families with multiple Lynch syndrome pathogenic variants present unique challenges in genetic counseling and clinical management. We report a family with pathogenic variants in multiple mismatch repair genes identified through multigene panel testing. Key issues highlighted by this case include recognizing when comprehensive genetic testing is necessary, tailoring management to specific genetic mutations, and ensuring accurate communication. This case highlights potential pitfalls in risk assessment and counseling for complex Lynch syndrome families.</p>","PeriodicalId":7394,"journal":{"name":"ACG Case Reports Journal","volume":"12 2","pages":"e01606"},"PeriodicalIF":0.6,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11805555/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143381521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Aortoduodenal Syndrome: A Rare Case of Duodenal Obstruction Due to Endovascular Aneurysm Endoleak. 十二指肠主动脉综合征：一例因血管内动脉瘤内漏引起的十二指肠梗阻。
IF 0.6
ACG Case Reports Journal Pub Date : 2025-02-07 eCollection Date: 2025-02-01 DOI: 10.14309/crj.0000000000001595
Raksha Adhikari, Parth Patel, Christopher Tait
{"title":"Aortoduodenal Syndrome: A Rare Case of Duodenal Obstruction Due to Endovascular Aneurysm Endoleak.","authors":"Raksha Adhikari, Parth Patel, Christopher Tait","doi":"10.14309/crj.0000000000001595","DOIUrl":"10.14309/crj.0000000000001595","url":null,"abstract":"<p><p>Aortoduodenal syndrome results from expansion of an abdominal aortic aneurysm, leading to symptoms of upper gastrointestinal obstruction. Endovascular aneurysm repair of large or symptomatic aortic aneurysms has become an important treatment modality for patients with abdominal aortic aneurysm. However, a large proportion of these grafts are complicated by endoleaks that can lead to a spectrum of significant symptoms. We present a case of rapidly worsening gastrointestinal obstructive symptoms in a patient with an already repaired aortic stent graft and a solitary kidney, found to be due to a type III endoleak that improved after emergent repeat endovascular aneurysm repair.</p>","PeriodicalId":7394,"journal":{"name":"ACG Case Reports Journal","volume":"12 2","pages":"e01595"},"PeriodicalIF":0.6,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11805558/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143381523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Isotretinoin-Induced Pill Esophagitis. 异维甲酸引起的食道炎。
IF 0.6
ACG Case Reports Journal Pub Date : 2025-02-07 eCollection Date: 2025-02-01 DOI: 10.14309/crj.0000000000001596
George Hourany, Jamil S Samaan, Amrit K Kamboj, Francisco Ibarra
{"title":"Isotretinoin-Induced Pill Esophagitis.","authors":"George Hourany, Jamil S Samaan, Amrit K Kamboj, Francisco Ibarra","doi":"10.14309/crj.0000000000001596","DOIUrl":"10.14309/crj.0000000000001596","url":null,"abstract":"","PeriodicalId":7394,"journal":{"name":"ACG Case Reports Journal","volume":"12 2","pages":"e01596"},"PeriodicalIF":0.6,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11805557/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143381528","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Oligometastatic Hepatocellular Carcinoma to the Perirectal Pelvis, a Rare Site of Distant Spread. 少转移性肝细胞癌至直肠周围骨盆，一罕见的远处扩散部位。
IF 0.6
ACG Case Reports Journal Pub Date : 2025-02-07 eCollection Date: 2025-02-01 DOI: 10.14309/crj.0000000000001615
Gabriel V Lupu, A Sidney Barritt, Alina C Iuga, Andrew M Moon, Hanna K Sanoff, Ted K Yanagihara, Lisa M Gangarosa
{"title":"Oligometastatic Hepatocellular Carcinoma to the Perirectal Pelvis, a Rare Site of Distant Spread.","authors":"Gabriel V Lupu, A Sidney Barritt, Alina C Iuga, Andrew M Moon, Hanna K Sanoff, Ted K Yanagihara, Lisa M Gangarosa","doi":"10.14309/crj.0000000000001615","DOIUrl":"10.14309/crj.0000000000001615","url":null,"abstract":"<p><p>Prevention, recognition, and staging of hepatocellular carcinoma (HCC) rely primarily on abdominal imaging. Treatment of HCC varies widely based on tumor stage, lymph node involvement, and metastatic disease along with the patient's functional status. We present an unusual case of isolated extrahepatic HCC metastasis involving a solitary lesion in the pelvis, with no other evidence of viable intrahepatic or extrahepatic disease. The detection of this metastasis was aided by regular surveillance magnetic resonance imaging, alpha-fetoprotein monitoring, and pathological diagnosis. Our case highlights the importance of thoroughly evaluating interval changes on surveillance imaging in HCC.</p>","PeriodicalId":7394,"journal":{"name":"ACG Case Reports Journal","volume":"12 2","pages":"e01615"},"PeriodicalIF":0.6,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11805561/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143381530","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cytarabine-Induced Hyperbilirubinemia in a Pregnant Patient With Acute Myeloid Leukemia. 妊娠急性髓性白血病患者阿糖胞苷诱导的高胆红素血症。
IF 0.6
ACG Case Reports Journal Pub Date : 2025-02-07 eCollection Date: 2025-02-01 DOI: 10.14309/crj.0000000000001610
Anjana Rajan, Abdelwahab Ahmed, Yalda Dehghan, Ji-Cheng Hsieh, Christopher Moore
{"title":"Cytarabine-Induced Hyperbilirubinemia in a Pregnant Patient With Acute Myeloid Leukemia.","authors":"Anjana Rajan, Abdelwahab Ahmed, Yalda Dehghan, Ji-Cheng Hsieh, Christopher Moore","doi":"10.14309/crj.0000000000001610","DOIUrl":"10.14309/crj.0000000000001610","url":null,"abstract":"<p><p>This case study presents the first reported instance of cytarabine-induced hyperbilirubinemia in a pregnant patient undergoing treatment of acute myeloid leukemia. Despite experiencing direct hyperbilirubinemia during induction therapy, the patient exhibited no other signs of liver dysfunction. Lowering the cytarabine dose in subsequent cycles resulted in milder bilirubin elevations without compromising treatment efficacy. The patient gave birth to a healthy baby at term between cycles, underscoring the benign nature of this effect on both maternal and fetal health. This case contributes valuable insight into the management and outcomes of cytarabine-induced hyperbilirubinemia in a rare population: pregnant patients with acute myeloid leukemia.</p>","PeriodicalId":7394,"journal":{"name":"ACG Case Reports Journal","volume":"12 2","pages":"e01610"},"PeriodicalIF":0.6,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11805562/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143381526","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An Unusual Case of Intrahepatic Stone Masquerading as Cholangiocarcinoma. 肝内结石伪装成胆管癌1例。
IF 0.6
ACG Case Reports Journal Pub Date : 2025-02-06 eCollection Date: 2025-02-01 DOI: 10.14309/crj.0000000000001607
Alexander S Williams, Michael A Sikes, Scott Liu
{"title":"An Unusual Case of Intrahepatic Stone Masquerading as Cholangiocarcinoma.","authors":"Alexander S Williams, Michael A Sikes, Scott Liu","doi":"10.14309/crj.0000000000001607","DOIUrl":"10.14309/crj.0000000000001607","url":null,"abstract":"<p><p>A cancer of the biliary tree, cholangiocarcinoma (CCA) often presents with painless jaundice, right upper quadrant abdominal pain, and unintended weight loss. Serologic testing to include cancer antigen 19-9 (CA 19-9) is elevated in CCA but can also be elevated in inflammatory processes in the biliary system. Diagnosis is difficult and even with advanced imaging techniques false-positives may occur. We present a case of a patient with elevated CA 19-9 and biliary stricture concerning for CCA but was due to hepatic stone. It demonstrates the challenge of correctly diagnosing CCA and an instance of nonmalignant elevation of CA 19-9.</p>","PeriodicalId":7394,"journal":{"name":"ACG Case Reports Journal","volume":"12 2","pages":"e01607"},"PeriodicalIF":0.6,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11801792/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143363191","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pancreas Injury and Abdominal Pain as a Result of Duodenal Perforation by an Ingested Toothpick. 误食牙签致十二指肠穿孔致胰腺损伤及腹痛。
IF 0.6
ACG Case Reports Journal Pub Date : 2025-02-05 eCollection Date: 2025-02-01 DOI: 10.14309/crj.0000000000001602
Jia-Ju Li, Lei Wang
{"title":"Pancreas Injury and Abdominal Pain as a Result of Duodenal Perforation by an Ingested Toothpick.","authors":"Jia-Ju Li, Lei Wang","doi":"10.14309/crj.0000000000001602","DOIUrl":"https://doi.org/10.14309/crj.0000000000001602","url":null,"abstract":"","PeriodicalId":7394,"journal":{"name":"ACG Case Reports Journal","volume":"12 2","pages":"e01602"},"PeriodicalIF":0.6,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11798366/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143254519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Management Considerations in a Patient With a Germline CDH1 Pathogenic Variant and a History of Roux-en-Y Gastric Bypass Surgery. 一种系CDH1致病变异并有Roux-en-Y胃旁路手术史患者的处理考虑。
IF 0.6
ACG Case Reports Journal Pub Date : 2025-02-05 eCollection Date: 2025-02-01 DOI: 10.14309/crj.0000000000001616
Zehra Naseem, Lady Katherine Mejia-Perez, Kenneth Friedman, Lisa LaGuardia, R Matthew Walsh, Carol A Burke
{"title":"Management Considerations in a Patient With a Germline <i>CDH1</i> Pathogenic Variant and a History of Roux-en-Y Gastric Bypass Surgery.","authors":"Zehra Naseem, Lady Katherine Mejia-Perez, Kenneth Friedman, Lisa LaGuardia, R Matthew Walsh, Carol A Burke","doi":"10.14309/crj.0000000000001616","DOIUrl":"10.14309/crj.0000000000001616","url":null,"abstract":"<p><p>Individuals with a germline pathogenic variant in the <i>CDH1</i> gene have a lifetime risk of advanced diffuse gastric cancer (DGC) of up to 10.3% and a 37%-52% risk of breast cancer, specifically the lobular subtype. Guidelines recommend prophylactic gastrectomy between ages 18-40 years for those with a family history of DGC. For patients declining surgery or lacking a family history of DGC, annual endoscopic surveillance according to recommended protocols is an alternative. This case reviews the management of a patient with a history of Roux-en-Y gastric bypass followed one year later by a diagnosis of lobular breast cancer due to a germline <i>CDH1</i> pathogenic variant.</p>","PeriodicalId":7394,"journal":{"name":"ACG Case Reports Journal","volume":"12 2","pages":"e01616"},"PeriodicalIF":0.6,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11798405/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143254517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cholangioscopic Lithotripsy by Using Self-Expanding Metal Stent for Intrahepatic Stones in Portal Cavernoma Cholangiopathy After Failed Biliary Bypass. 胆道镜下自膨胀金属支架碎石治疗门静脉海绵瘤型胆管病变胆道绕道失败后肝内结石。
IF 0.6
ACG Case Reports Journal Pub Date : 2025-02-05 eCollection Date: 2025-02-01 DOI: 10.14309/crj.0000000000001609
Partha Pal, Anjan Kaipa, Rajesh Gupta, Manu Tandan, D Nageshwar Reddy
{"title":"Cholangioscopic Lithotripsy by Using Self-Expanding Metal Stent for Intrahepatic Stones in Portal Cavernoma Cholangiopathy After Failed Biliary Bypass.","authors":"Partha Pal, Anjan Kaipa, Rajesh Gupta, Manu Tandan, D Nageshwar Reddy","doi":"10.14309/crj.0000000000001609","DOIUrl":"https://doi.org/10.14309/crj.0000000000001609","url":null,"abstract":"","PeriodicalId":7394,"journal":{"name":"ACG Case Reports Journal","volume":"12 2","pages":"e01609"},"PeriodicalIF":0.6,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11798399/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143254515","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Rare Case of Hepatocellular Carcinoma Presenting as Cervical Lymph Node Metastases and Review of the Literature. 罕见的肝细胞癌表现为颈部淋巴结转移并文献复习。
IF 0.6
ACG Case Reports Journal Pub Date : 2025-02-05 eCollection Date: 2025-02-01 DOI: 10.14309/crj.0000000000001620
Bryce Tkachuk, Igor Stukalin, Yinong Wang, Stephen E Congly
{"title":"A Rare Case of Hepatocellular Carcinoma Presenting as Cervical Lymph Node Metastases and Review of the Literature.","authors":"Bryce Tkachuk, Igor Stukalin, Yinong Wang, Stephen E Congly","doi":"10.14309/crj.0000000000001620","DOIUrl":"10.14309/crj.0000000000001620","url":null,"abstract":"<p><p>Hepatocellular carcinoma (HCC) is a leading cause of cancer morbidity and mortality worldwide. Common sites of metastases include the lungs, regional lymph nodes, bone, and adrenal glands. Although rare, distant metastases to the cervical lymph nodes have been reported. With better therapies for viral hepatitis, there has been a shift in the landscape of chronic liver disease and the development of HCC with rising prevalence of HCC attributable to metabolic dysfunction-associated steatotic liver disease. In this study, we describe a case of metastatic HCC presenting as cervical lymphadenopathy in a patient with metabolic dysfunction-associated steatotic liver disease in the absence of cirrhosis.</p>","PeriodicalId":7394,"journal":{"name":"ACG Case Reports Journal","volume":"12 2","pages":"e01620"},"PeriodicalIF":0.6,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11798397/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143254513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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