Journal of investigative medicine high impact case reports最新文献

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Breast Carcinoma With Features of Both Solid Papillary Carcinoma and Invasive Lobular Carcinoma: Diagnostic Challenges and Considerations. 具有实体乳头状癌和浸润性小叶癌特征的乳腺癌:诊断的挑战和考虑。
IF 0.7
Journal of investigative medicine high impact case reports Pub Date : 2026-01-01 Epub Date: 2026-10-19 DOI: 10.1177/23247096261501847
Xiaofeng Zhao, Xinmin Zhang
{"title":"Breast Carcinoma With Features of Both Solid Papillary Carcinoma and Invasive Lobular Carcinoma: Diagnostic Challenges and Considerations.","authors":"Xiaofeng Zhao, Xinmin Zhang","doi":"10.1177/23247096261501847","DOIUrl":"10.1177/23247096261501847","url":null,"abstract":"<p><p>Solid papillary carcinomas (SPCs) are uncommon breast tumors, and they are listed as a separate entity of papillary neoplasm, with no clear etiology and pathophysiology recognized so far. SPC without invasion is treated and managed as a form of ductal carcinoma in situ; when invasion is present, both ductal and lobular carcinoma can be present as the invasive component. Here we present a breast tumor showing features of both SPC and invasive lobular carcinoma (ILC). For either diagnosis, this tumor has unusual morphologic and immunophenotypic characteristics that have not been reported in literature. Differential diagnosis between these two entities is reviewed and discussed. As more cases with SPC-like morphology showing lobular differentiation are reported, whether they should be categorized as SPCs or ILCs deserves additional discussions and investigations. We hope to inspire further studies and explorations on whether solid papillary morphology alone is sufficient for diagnosing SPCs and recommend routinely performing immunohistochemical stains when lobular differentiation is suspected to avoid misdiagnosis and downstaging of the tumor.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261501847"},"PeriodicalIF":0.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149224431","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
Adult-Onset Still Disease Triggered by Recent Cytomegalovirus Infection: A Diagnosis of Exclusion and a Review of the Literature. 近期巨细胞病毒感染引发的成人发病Still病:排除诊断及文献回顾
IF 0.7
Journal of investigative medicine high impact case reports Pub Date : 2026-01-01 Epub Date: 2026-10-20 DOI: 10.1177/23247096261501834
Montoya Luisa, Martinez Abdel, Simono Krystal, Singh Ripudaman, Tijani Aramide, Mangina Sunaina
{"title":"Adult-Onset Still Disease Triggered by Recent Cytomegalovirus Infection: A Diagnosis of Exclusion and a Review of the Literature.","authors":"Montoya Luisa, Martinez Abdel, Simono Krystal, Singh Ripudaman, Tijani Aramide, Mangina Sunaina","doi":"10.1177/23247096261501834","DOIUrl":"https://doi.org/10.1177/23247096261501834","url":null,"abstract":"<p><p>Adult-onset Still disease (AOSD) is a rare systemic autoinflammatory disorder characterized by quotidian fever, inflammatory arthritis, evanescent rash, neutrophilic leukocytosis, and hyperferritinemia. Because no pathognomonic diagnostic test exists, diagnosis relies on characteristic clinical features and exclusion of infectious, malignant, and autoimmune disorders. Viral infections, including cytomegalovirus (CMV), have been proposed as potential immunologic triggers in genetically susceptible individuals, although causality remains unproven. We report a 47-year-old Hispanic woman with hypertension and type 2 diabetes mellitus who presented with one week of daily fever, severe diffuse polyarthralgia, sore throat, fatigue, and a persistent erythematous rash that had begun six months earlier. Laboratory evaluation revealed marked neutrophilic leukocytosis (27.3 × 10<sup>9</sup>/L), hyperferritinemia (2,853 ng/mL), elevated erythrocyte sedimentation rate (110 mm/hour), C-reactive protein (26 mg/dL), and procalcitonin (5.84 ng/mL). Extensive infectious evaluation, including blood cultures and testing for HIV, Epstein-Barr virus, tick-borne diseases, sexually transmitted infections, and other pathogens, was negative except for positive CMV IgG and IgM. Comprehensive autoimmune testing, peripheral blood smear, and computed tomography excluded connective tissue disease and hematologic malignancy. After systematic exclusion of alternative diagnoses, the patient fulfilled Yamaguchi criteria for AOSD. Prednisone 40 mg daily resulted in rapid resolution of fever, improvement in arthralgia, and normalization of inflammatory markers. This case highlights the diagnostic complexity of AOSD and suggests that recent CMV infection may act as an immunologic trigger rather than the primary disease process.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261501834"},"PeriodicalIF":0.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149227836","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
"First Reported Case of Rapidly Progressive Pyogenic Liver Abscess with Isolation of Priestia megaterium: Case Report and Literature Review". 《首例伴有巨斑虫分离的快速进展性化脓性肝脓肿病例报告及文献复习》。
IF 0.7
Journal of investigative medicine high impact case reports Pub Date : 2026-01-01 Epub Date: 2026-03-25 DOI: 10.1177/23247096261436690
Rouba Isshak, Ruba Habib, Aqsa Zoey Sorathia, Zhaoqi Li, Varun Muppidi, Marwan Tamimi, Ragul Manoharan, Ivan Mercado, Jil P Modi, Malina Mohtadi, Kareem Ebeid, Mourad Ismail
{"title":"\"First Reported Case of Rapidly Progressive Pyogenic Liver Abscess with Isolation of <i>Priestia megaterium</i>: Case Report and Literature Review\".","authors":"Rouba Isshak, Ruba Habib, Aqsa Zoey Sorathia, Zhaoqi Li, Varun Muppidi, Marwan Tamimi, Ragul Manoharan, Ivan Mercado, Jil P Modi, Malina Mohtadi, Kareem Ebeid, Mourad Ismail","doi":"10.1177/23247096261436690","DOIUrl":"10.1177/23247096261436690","url":null,"abstract":"<p><p><i>Priestia megaterium</i> (formerly <i>Bacillus megaterium</i>) is a Gram-positive, spore-forming environmental bacillus rarely associated with human infection. In this report, we present a case of a rapidly progressive polymicrobial pyogenic liver abscess with subsequent isolation of <i>P. megaterium</i> in a 69-year-old woman with type II diabetes mellitus, chronic kidney disease, metabolic liver disease, and extensive antibiotic allergies. She initially presented with progressive abdominal pain and fever, with negative early imaging studies. Three weeks later, computed tomography (CT) demonstrated new hepatic abscesses. Interventional radiology drainage cultures initially grew <i>Streptococcus intermedius</i>, guiding targeted antimicrobial therapy; however, the patient clinically deteriorated with recurrent abscess formation despite drainage and broad-spectrum coverage. Subsequent aspirate cultures from the abscess fluid later grew <i>P. megaterium</i>, though this result was finalized after the patient's death on day 12 of admission despite intensive care and source control attempts. This case suggests that <i>P. megaterium</i>, traditionally regarded as nonpathogenic, may be recovered in severe infections in immunocompromised hosts; however, alternative explanations-including polymicrobial infection, antibiotic-mediated suppression of co-pathogens, iatrogenic introduction during drainage procedures, or culture contamination-must be carefully considered. Contributing factors likely included her underlying comorbidities, concurrent COVID-19 infection, delayed pathogen identification, and restrictions imposed by multiple drug allergies. Diagnostic challenges underscore the importance of repeated culture sampling, careful interpretation of microbiology results, and awareness of rare organisms when standard therapy is unsuccessful. This report expands the spectrum of diseases associated with <i>P. megaterium</i>. It emphasizes the need for multidisciplinary collaboration and heightened clinical vigilance in cases of rapidly progressive intra-abdominal infections that are unresponsive to conventional treatment.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261436690"},"PeriodicalIF":0.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13018684/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147512628","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 Hidden Driver Mutation in Myeloproliferative Neoplasms: SH2B3 and Diagnostic Implications and Response to Ropeginterferon Alfa-2b. 骨髓增殖性肿瘤中一种隐藏的驱动突变:SH2B3和诊断意义以及对ropeg干扰素α -2b的反应。
IF 0.7
Journal of investigative medicine high impact case reports Pub Date : 2026-01-01 Epub Date: 2026-06-25 DOI: 10.1177/23247096261462335
Karina Basmajian, Lauren Rachel Chang Borecky, Mojtaba Akhtari
{"title":"A Hidden Driver Mutation in Myeloproliferative Neoplasms: SH2B3 and Diagnostic Implications and Response to Ropeginterferon Alfa-2b.","authors":"Karina Basmajian, Lauren Rachel Chang Borecky, Mojtaba Akhtari","doi":"10.1177/23247096261462335","DOIUrl":"10.1177/23247096261462335","url":null,"abstract":"<p><p>Myeloproliferative neoplasms (MPNs) are commonly linked to driver mutations in the JAK2, MPL, and CALR genes. In contrast, SH2B3 (LNK) mutations are uncommon and remain an under-characterized contributor to dysregulated JAK-STAT signaling. The clinical features and treatment responsiveness of SH2B3-mutated MPNs are not well defined, and data on outcomes with ropeginterferon alfa-2b in this molecular subgroup are limited. We report a 75-year-old man who presented for evaluation of headache, generalized bone pain, and night sweats and was found to have abnormal blood counts including persistent leukocytosis, erythrocytosis, and thrombocytosis. Prior molecular testing was negative for JAK2, MPL, and CALR mutations. Bone marrow examination showed hypercellularity with panmyelosis, mild megakaryocytic atypia, and WHO grade 1 reticulin fibrosis. Hematologic next-generation sequencing identified a pathogenic SH2B3 c.1481C>G (p.Ser494*) nonsense mutation, predicted to result in a loss of SH2B3's C-terminal regulatory domain. Given the tri-lineage cytoses and marrow findings, a diagnosis of SH2B3-mutated MPN was established. He was started on ropeginterferon alfa-2b, resulting in resolution of his symptoms and complete hematologic response (WBC ≤ 10 × 10<sup>3</sup>/μL, Hct ≤ 45%, and PLT ≤ 400 × 10<sup>3</sup>/μL) within 12 weeks, without the need for phlebotomy or treatment-limiting adverse effects. This case underscores the clinical significance of SH2B3 mutations as a driver of triple-negative MPNs and supports their inclusion in molecular evaluation when classical mutations are absent. The favorable clinical and hematologic response to ropeginterferon alfa-2b suggests that interferon-based therapy may be effective in SH2B3-mutated MPNs.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261462335"},"PeriodicalIF":0.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13305519/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148330214","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 Case Report of Thrombocytopenia Caused by a May-Hegglin Anomaly in a Young Saudi Female. 一例沙特年轻女性May-Hegglin异常引起的血小板减少症。
IF 0.7
Journal of investigative medicine high impact case reports Pub Date : 2026-01-01 Epub Date: 2026-02-21 DOI: 10.1177/23247096261425195
Rehab Y Al-Ansari, Rawan Rashed Aljohani, Rayan Mansour Aljurbua, Ali Mohammed Alasmari, Muhammad F Abdellatif, Nawaf Zakary
{"title":"A Case Report of Thrombocytopenia Caused by a May-Hegglin Anomaly in a Young Saudi Female.","authors":"Rehab Y Al-Ansari, Rawan Rashed Aljohani, Rayan Mansour Aljurbua, Ali Mohammed Alasmari, Muhammad F Abdellatif, Nawaf Zakary","doi":"10.1177/23247096261425195","DOIUrl":"10.1177/23247096261425195","url":null,"abstract":"<p><p>Low platelet count is rarely caused by inherited thrombocytopenia. May-Hegglin anomaly is an uncommon condition that falls under the umbrella of familial thrombocytopenia. The condition is under-reported in Saudi Arabia; therefore, we report the current case. This is a 24-year-old Saudi lady, presented to the emergency room with vaginal bleeding. No bleeding occurred at any other sites. She has a positive family history of thrombocytopenia among her father and 2 of her siblings. Her platelet count was 16 × 10<sup>3</sup>/µL with normal other blood count as well as renal and liver panels. She was admitted to the regular bed for investigation as sever thrombocytopenia with suspicion of either familial or immune thrombocytopenia. Further studies showed normal hemostatic, virology, and connective tissue disease markers. Peripheral blood film showed low platelet distribution with occasional large/giant platelets and basophilic inclusion bodies in some neutrophils (Dohle body-like). A picture suggestive of May-Hegglin related thrombocytopenia that was confirmed by the presence of a positive myosin heavy chain 9 (MYH9) gene mutation. In conclusion, there are many difficulties in diagnosing and treating May-Hegglin disorders in females of reproductive age. More research and guidelines are needed to manage inherited thrombocytopenia before and throughout pregnancy.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261425195"},"PeriodicalIF":0.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12924981/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146258383","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
Tuberculosis Presenting as Multiple Pulmonary Nodules Mimicking Malignancy. 肺结核表现为多发性肺结节,类似恶性肿瘤。
IF 0.7
Journal of investigative medicine high impact case reports Pub Date : 2026-01-01 Epub Date: 2026-03-04 DOI: 10.1177/23247096261429205
Abdel Martinez, Fatimah Bello, Brandon Cantazaro, Luisa Montoya, Frank Mendiola
{"title":"Tuberculosis Presenting as Multiple Pulmonary Nodules Mimicking Malignancy.","authors":"Abdel Martinez, Fatimah Bello, Brandon Cantazaro, Luisa Montoya, Frank Mendiola","doi":"10.1177/23247096261429205","DOIUrl":"10.1177/23247096261429205","url":null,"abstract":"<p><p>Multiple pulmonary nodules often raise concern for metastatic malignancy; however, the differential diagnosis is broad and includes infectious, inflammatory, granulomatous, vascular, and benign etiologies. Tuberculosis (TB), although uncommon, can present with multiple nodules that closely mimic metastatic disease on advanced imaging, requiring careful clinicoradiologic and microbiologic correlation. We describe a woman in her 50s who presented with dyspnea and new-onset heart failure, in whom imaging revealed mediastinal lymphadenopathy and bilateral pulmonary nodules concerning for malignancy. Evaluation was limited by concurrent COVID-19 infection, and CT-guided biopsy demonstrated necrotizing granulomas without evidence of malignancy or infection. She later re-presented with fever and productive cough, with imaging showing progression to cavitary lung lesions. Bronchoscopy was deferred due to high procedural risk, and sputum studies ultimately confirmed pulmonary TB by positive AFB smear and MTB PCR. She was started on standard antituberculous therapy and discharged with directly observed treatment. This case highlights the importance of maintaining a broad differential diagnosis when evaluating multiple pulmonary nodules and emphasizes the role of microbiologic testing in establishing the diagnosis when invasive procedures are not feasible.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261429205"},"PeriodicalIF":0.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12966580/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147355344","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
Not All Hemolysis Is Hemolytic: A Case of Pernicious Anemia. 并非所有的溶血都是溶血:一例恶性贫血。
IF 0.7
Journal of investigative medicine high impact case reports Pub Date : 2026-01-01 Epub Date: 2026-04-24 DOI: 10.1177/23247096261446486
Srijani Thannir, Jonathan Kutcher, Jayalekshmi Jayakumar, Asmat Ullah
{"title":"Not All Hemolysis Is Hemolytic: A Case of Pernicious Anemia.","authors":"Srijani Thannir, Jonathan Kutcher, Jayalekshmi Jayakumar, Asmat Ullah","doi":"10.1177/23247096261446486","DOIUrl":"10.1177/23247096261446486","url":null,"abstract":"<p><p>Vitamin B12 deficiency is classically associated with megaloblastic anemia and neurologic or neuropsychiatric manifestations; however, in rare cases, it may present with pancytopenia and laboratory features that mimic hemolytic anemia. Pernicious anemia is a common cause of vitamin B12 deficiency classically described in older adults of Northern European descent; however, it can occur across all ages and ethnic backgrounds, and demographic assumptions should not delay diagnosis. We report a 35-year-old African American man with no significant past medical history who presented with progressive weakness, decreased appetite, and fatigue. Initial laboratory evaluation revealed profound macrocytic anemia, thrombocytopenia, elevated lactate dehydrogenase, indirect hyperbilirubinemia, and low haptoglobin. Despite these findings, the reticulocyte response was inappropriately low, the direct antiglobulin test was negative, and the peripheral blood smear demonstrated no schistocytes, consistent with ineffective erythropoiesis rather than true hemolysis. Further evaluation revealed severe vitamin B12 deficiency with normal folate levels and positive intrinsic factor antibodies, and biopsy findings consistent with autoimmune metaplastic atrophic gastritis supporting a diagnosis of pernicious anemia. Treatment with intramuscular vitamin B12 resulted in rapid clinical and hematologic improvement, emphasizing the reversibility of hematologic manifestations with prompt therapy. This case highlights pernicious anemia as a reversible cause of pseudo-hemolytic anemia and underscores the importance of recognizing its distinguishing features to avoid unnecessary interventions such as plasma exchange or immunosuppressive therapy.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261446486"},"PeriodicalIF":0.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13125807/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147773785","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 2-week-Old With Right Upper Extremity Swelling and Discoloration. 2周大,右上肢肿胀变色。
IF 0.7
Journal of investigative medicine high impact case reports Pub Date : 2026-01-01 Epub Date: 2026-10-26 DOI: 10.1177/23247096261502275
Gideon Wolf, Zahra Iqbal, Timothy Simons
{"title":"A 2-week-Old With Right Upper Extremity Swelling and Discoloration.","authors":"Gideon Wolf, Zahra Iqbal, Timothy Simons","doi":"10.1177/23247096261502275","DOIUrl":"10.1177/23247096261502275","url":null,"abstract":"<p><p>In this case report, we present a 2-week-old female ex-34w6d mono-di twin who is brought by her parents to the pediatric urgent care department due to sudden right upper extremity swelling, firmness, and bruising. Ultrasound of the right extremity reveals \"mild subcutaneous edema in the subepidermal soft tissues with multiple scattered echogenic foci present\" and X-ray of the right upper extremity reveals \"increased density in the soft tissues around the humerus which may represent calcification\"<b>.</b> After discussion with several inter-disciplinary team members, it was determined that this patient had iatrogenic calcinosis cutis from a prior intravenous calcium gluconate infusion in the NICU, which occurs when insoluble calcium salts are deposited into tissue and can form hard palpable nodules that can impinge nerves and blood vessels and affect movement, sensation, and blood flow. Importantly, this is a rare complication that can occur, especially in neonates, and we hope to add to the growing literature on its recognition and subsequent management.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261502275"},"PeriodicalIF":0.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149268914","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
Spontaneous Cholesterol Embolism Presenting as Acute Kidney Injury: A Nephrology Approach and Literature Review. 自发性胆固醇栓塞表现为急性肾损伤:肾脏病方法和文献综述。
IF 0.7
Journal of investigative medicine high impact case reports Pub Date : 2026-01-01 Epub Date: 2026-01-20 DOI: 10.1177/23247096251411667
Nghia Phu Nguyen, Thy Dinh Van Le, Nhu Nguyen, Anusree Chakraborty, Tuan Thai Nguyen, Thuan Minh Quang Tran, Nhu Dong Phuong Nguyen, Ai Cao My Bui, Anh Le Vu
{"title":"Spontaneous Cholesterol Embolism Presenting as Acute Kidney Injury: A Nephrology Approach and Literature Review.","authors":"Nghia Phu Nguyen, Thy Dinh Van Le, Nhu Nguyen, Anusree Chakraborty, Tuan Thai Nguyen, Thuan Minh Quang Tran, Nhu Dong Phuong Nguyen, Ai Cao My Bui, Anh Le Vu","doi":"10.1177/23247096251411667","DOIUrl":"10.1177/23247096251411667","url":null,"abstract":"<p><p>Cholesterol crystal embolism (CCE) is an underdiagnosed systemic condition that often leads to acute kidney injury (AKI) with poor kidney prognosis. Herein, we report a case of dialysis-dependent AKI due to spontaneous CCE with early kidney recovery. A 76-year-old man with hypertension, diabetes mellitus type 2, chronic hepatitis B virus, adrenal insufficiency and gout presented with fatigue, polyarthritis, oliguria, and elevated serum creatinine. Imaging revealed an infrarenal abdominal aortic aneurysm with diffuse atherosclerosis, and laboratory findings showed markedly elevated D-dimer without eosinophilia or autoantibodies. Despite supportive measures, kidney function deteriorated rapidly, necessitating urgent initiation of intermittent hemodialysis on 4 occasions during the first week. Kidney biopsy confirmed cholesterol clefts within medium-sized arteries, establishing the diagnosis of CCE. The patient was treated with corticosteroids, high-dose statins, aspirin, and supportive therapy. Remarkably, kidney function improved, allowing discontinuation of dialysis by the end of the first week, and he was discharged on day 22 with significant recovery of kidney function. In conclusion, CCE-related AKI is rare and typically associated with poor outcomes, yet this case demonstrates that early recognition, timely kidney biopsy, and prompt initiation of corticosteroids and high-dose statins may enable full kidney recovery.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096251411667"},"PeriodicalIF":0.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12819967/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146010822","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
Survival After Catastrophic Antiphospholipid Syndrome With Diffuse Alveolar Hemorrhage. 灾难性抗磷脂综合征伴弥漫性肺泡出血后的生存率。
IF 0.7
Journal of investigative medicine high impact case reports Pub Date : 2026-01-01 Epub Date: 2026-06-24 DOI: 10.1177/23247096261455115
Edy Quizhpe, Franklin Uguña, Javier Velastegui, José Luis Santana, Nelson Moran, Miguel Ochoa, Alex Robalino
{"title":"Survival After Catastrophic Antiphospholipid Syndrome With Diffuse Alveolar Hemorrhage.","authors":"Edy Quizhpe, Franklin Uguña, Javier Velastegui, José Luis Santana, Nelson Moran, Miguel Ochoa, Alex Robalino","doi":"10.1177/23247096261455115","DOIUrl":"10.1177/23247096261455115","url":null,"abstract":"<p><p>Antiphospholipid syndrome is a systemic autoimmune disorder characterized by thrombotic events in the presence of antiphospholipid antibodies including lupus anticoagulant, anticardiolipin, and anti-β2-glycoprotein I antibodies. Catastrophic antiphospholipid syndrome is a rare but life-threatening variant, accounting for less than 1% of antiphospholipid syndrome cases, and is characterized by rapid progressive microvascular thrombosis and multiorgan failure. We report the case of a middle-aged man who developed catastrophic antiphospholipid syndrome associated with systemic lupus erythematosus, presenting with diffuse alveolar hemorrhage, acute kidney injury, vasculitis skin lesions, and severe thrombocytopenia. Management requires intensive care support, immunosuppressive therapy, intravenous immunoglobulin administration, cyclophosphamide administration, and delayed plasmapheresis. Despite multi-organ involvement and guarded prognosis, the patient survived following multidisciplinary management. This case highlights the importance of early recognition, rapid therapeutic intervention, and coordinated interdisciplinary care to improve survival in patients with catastrophic antiphospholipid syndrome.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261455115"},"PeriodicalIF":0.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13305641/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148317489","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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