Journal of investigative medicine high impact case reports最新文献

{"title":"Autoimmune Pulmonary Alveolar Proteinosis: A Rare Diagnosis in Pediatric Age.","authors":"Inês Pais-Cunha, Augusta Gonçalves, Sara Paulino, José Fontoura Matias, Silva Sónia, Catarina Ferraz, Inês Azevedo","doi":"10.1177/23247096251323188","DOIUrl":"10.1177/23247096251323188","url":null,"abstract":"<p><p>Autoimmune pulmonary alveolar proteinosis (AI-PAP) is a rare condition, especially in children. The clinical presentation ranges from asymptomatic forms to respiratory distress requiring ventilation. We describe the case of a 13-year-old adolescent male who presented to the emergency department with acute pleuritic chest pain not associated with systemic complaints. On examination, he had diminished breath sounds in the lower two thirds of the chest with no other abnormal findings; SpO₂ (oxygen saturation) was 98% on room air. Chest radiograph revealed a marked interstitial infiltrate, comparable with the one taken 4 years earlier during an acute illness that was presumptively treated with azithromycin. A computed tomography (CT) scan revealed multiple bilateral areas of ground-glass opacities with areas of crazy paving, involving > 65% of lung parenchyma, suggestive of pulmonary alveolar proteinosis (PAP). Respiratory viral testing, including for coronavirus (SARS-CoV2), was negative. Bronchoalveolar lavage performed in the outpatient setting revealed a milky fluid and positive periodic acid-Schiff staining. Spirometry indicated a mild restrictive pattern (forced vital capacity [FVC] = 77%) and diffusing capacity of the lungs for carbon monoxide (DLCO) showed a moderate decrease at 48.6%. No mutations associated with surfactant dysfunction were found on the genetic panel. Anti-granulocyte macrophage colony-stimulating factor (GM-CSF) antibody testing was strongly positive, raising suspicion for autoimmune PAP. At 20 months of follow-up, the patient remains asymptomatic with a normal spirometry. Although treatment with agents, such as the inhaled form of granulocyte-macrophage colony-stimulating factor (GM-CSF) appears promising for the treatment of symptomatic adult patients, as this patient remains asymptomatic, a conservative approach was taken, and he continues to be monitored in the clinic.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251323188"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11909686/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624945","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}

{"title":"Concomitant Polycythemia Vera and Primary Splenic Diffuse Large B-Cell Lymphoma Complicated by Gastrosplenic Fistula: A Case Report.","authors":"Bibek Saha, Jenny J Cao, Zachary S Kelm, Allison Reinhardt, Alex Danielson, Victoria Kalinoski-Dubose, William Mundell","doi":"10.1177/23247096251325409","DOIUrl":"10.1177/23247096251325409","url":null,"abstract":"<p><p>Diffuse large B-cell lymphoma (DLBCL) is the most prevalent and aggressive subtype of non-Hodgkin lymphoma comprising 30% to 40% of cases. While DLBCL frequently arises in the lymph nodes, up to 40% of cases originate in extranodal tissues. Primary splenic DLBCL is extremely rare comprising only ~1% of DLBCL cases and can be complicated by rare entities including gastrosplenic fistula (GSF). In contrast to DLBCL, polycythemia vera (PV) is a myeloproliferative malignancy. Polycythemia vera can transform into other hematologic malignancies including post-polycythemia myelofibrosis, but associations with DLBCL are uncommon. We present the first case of PV with concomitant primary splenic DLBCL complicated by GSF. While the majority of splenic lesions are benign, they have a broad differential diagnosis including malignant etiologies. Cystic or solid morphology, the number of lesions, and vascularity on imaging heavily guide further management. Due to concern for imminent massive upper gastrointestinal bleeding in the setting of GSF, our patient was diagnosed and managed with prompt splenectomy and gastrectomy. Percutaneous splenic biopsy is also a safe and effective diagnostic modality, but was deferred in our case given increased bleeding risk with PV. In conclusion, primary splenic lymphoma should be in the differential for a splenic mass regardless of whether the patient has a prior hematologic malignancy, and management should be prompt especially if complicated by a GSF.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251325409"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11915298/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143649212","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}

{"title":"Refractory Vasospasm Presenting as Acute Myocardial Infarction.","authors":"Nismat Javed, Emamuzo Obaro Otobo, Ankita Gore, Maulin Patel, Nisha Ali, Amandeep Singh, Nassim Krim, Preeti Jadhav","doi":"10.1177/23247096251325426","DOIUrl":"10.1177/23247096251325426","url":null,"abstract":"<p><p>Refractory coronary artery spasm is a challenging condition with many complications, including acute myocardial infarction. We present the case of an elderly woman who developed refractory coronary artery vasospasm requiring extensive hemodynamic support. She had an abnormal electrocardiogram. She was diagnosed with severe coronary artery vasospasm that initially responded to intracoronary nitroglycerin. However, the course was complicated by arrhythmias and cardiogenic shock following an additional episode of vasospasm that required higher concentrations of nitroglycerin. Notably, this case is relatively less documented in women and within the South Bronx population. Refractory coronary artery spasm is a critical condition that can lead to life-threatening outcomes. Prompt and effective treatment is essential, especially for high-risk patients, to prevent cardiac ischemia. Given the significant dangers of delayed or insufficient treatment, it is crucial to manage coronary artery spasms proactively to enhance patient outcomes and avoid severe complications. In addition, this diagnosis should be strongly considered in women, with an emphasis on following guidelines for managing cases of acute myocardial infarction.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251325426"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11909687/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624965","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}

{"title":"Gastroduodenal Artery (GDA) Pseudoaneurysm as a Cause of Massive Upper Gastrointestinal (GI) Bleeding Years After Partial Gastrectomy.","authors":"Hussam Almasri, Sana Rabeeah, Guneet Sidhu, Arman Qurashi, John Bassett, Bisher Sawaf, Shahem Abbarh","doi":"10.1177/23247096251323076","DOIUrl":"10.1177/23247096251323076","url":null,"abstract":"<p><p>Gastroduodenal artery (GDA) pseudoaneurysm is a rare complication of gastric and pancreatic surgery. The presentation is often severe gastrointestinal (GI) bleeding with up to a 90% mortality rate. Proper identification of past gastrectomy based on history or endoscopic appearance is essential for timely embolization or surgery, given that endoscopic management often fails. Here, we present a 65-year-old man who has a history of gastric ulcer-related surgery without clear documentation and hypertension presented with hematemesis, black stools, and syncope. Upper endoscopy showed signs of gastroenterostomy with stenosis and duodenal ulcer with spurting hemorrhage. Two days after endoscopic therapy, a recurrence of massive GI bleeding was noted. A celiac arteriogram was done by interventional radiology, demonstrating a pseudoaneurysm off the GDA. Successful embolization was performed with helical coils. The GI bleeding stopped, and the patient became stable after that. The GDA pseudoaneurysm-related bleeding should always be suspected in patients who underwent gastrectomy, bypass surgery, or pancreatectomy. Endoscopic interventions are usually temporary and sometimes can only give anatomical correlation before angiogram and embolization offer a definite treatment. Patients with GDA pseudoaneurysm can be entirely asymptomatic for a long time. The most common site of bleeding is the duodenum. Surgical interventions can also be offered if an angiogram is not successful in stopping the bleeding.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251323076"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11938441/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143677038","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}

{"title":"A Distinctive Case of Hemophagocytic Lymphohistiocytosis in Chronic Lymphocytic Leukemia.","authors":"Jayalekshmi Jayakumar, Manasa Ginjupalli, Fiqe Khan, Meher Ayyazuddin, Muhammad Ashar Ali, Giovannie Isaac Coss, Asmat Ullah","doi":"10.1177/23247096251326465","DOIUrl":"10.1177/23247096251326465","url":null,"abstract":"<p><p>Chronic lymphocytic leukemia (CLL) is an indolent malignancy characterized by the accumulation of dysfunctional B-cell lymphocytes. Complications such as hemophagocytic lymphohistiocytosis (HLH) can arise, particularly during disease progression. HLH has been increasingly reported as a complication of CLL, often triggered by factors such as superimposed infections, chemotherapy, Richter transformation, or disease progression. This case explores HLH as an initial presentation of undiagnosed CLL without any identifiable trigger. We present the case of a 65-year-old woman who presented with a high-grade fever, sore throat, and pancytopenia. Despite broad-spectrum antibiotic treatment, her condition deteriorated. Investigations revealed elevated ferritin levels, low natural killer cell activity, and other findings consistent with HLH. Flow cytometry and bone marrow biopsy ultimately confirmed the diagnosis of CLL. HLH is characterized by the hyperactivation of immune cells and is known to be triggered by a variety of factors, including infections and malignancies. In this case, the absence of identifiable triggers raises important questions about the underlying pathophysiology linking HLH with CLL. While previous reports have highlighted HLH as a complication of CLL, typically secondary to infection or treatment, this case is particularly noteworthy due to the unexplained onset of HLH in the absence of such triggers. This case underscores the need for heightened awareness of HLH as a potential manifestation of underlying malignancy, especially in non-septic patients presenting with unexplained fever and pancytopenia. In addition, the simultaneous presentation of normal pressure hydrocephalus emphasizes the complex interplay of inflammatory processes in CLL. Further research is needed to explore the relationship between inflammation and the pathogenesis of CLL.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251326465"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11938485/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692649","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}

{"title":"Diabetic Myonecrosis: Lessons in Recognizing and Treating a Rare Complication.","authors":"Brandon Garten, Mark Schwade, Saleh Alkathiri, Lane Perry","doi":"10.1177/23247096251331890","DOIUrl":"10.1177/23247096251331890","url":null,"abstract":"<p><p>Diabetic myonecrosis is a rare complication of poorly controlled diabetes that presents as spontaneous limb pain and swelling. It is associated with other microvascular diabetic complications such as nephropathy or retinopathy and is frequently misdiagnosed given its resemblance to infectious and vascular complications. We present a case of a 49-year-old male with poorly controlled type 2 diabetes and a history of recurrent thigh pain. This was initially treated as cellulitis, but the patient experienced persistent severe pain despite multiple rounds of antibiotics. Imaging with MRI ultimately confirmed a diagnosis of diabetic myonecrosis. The patient was successfully managed with a combination of aspirin, insulin therapy, and a multimodal pain regimen, leading to significant clinical improvement. This condition poses a diagnostic challenge due to its rarity and nonspecific presentation, often leading to delays in appropriate treatment. Prompt diagnosis with exclusionary testing and imaging, followed by appropriate management, can prevent severe complications. Additional research is needed to establish a standardized protocol for treating this condition.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251331890"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143753033","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}

{"title":"Friend Turned Foe: <i>Pasteurella multocida</i> Bacteremia Following a Scratch by an Adopted Pekin Duck.","authors":"Lefika Bathobakae, Hannah Cho, Simi Philip, Jin S Suh","doi":"10.1177/23247096251326452","DOIUrl":"10.1177/23247096251326452","url":null,"abstract":"<p><p><i>Pasteurella multocida</i> is a gram-negative coccobacillus that colonizes the aerodigestive tracts of cats, dogs, birds, and wild animals. This veterinary pathogen spreads to humans via licking, biting, or scratching. Pekin ducks are known carriers of multiple strains of <i>Pasteurella</i> bacteria that can manifest as fowl cholera, eye infection, or duck septicemia. This bacterium is a farmer's nightmare, as it is associated with high mortality rates. Herein, we report a unique case of <i>P. multocida</i> bacteremia in an immunocompetent host that shared a house with adopted Pekin ducks.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251326452"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11926822/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663537","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}

{"title":"Granulomatous Polyangiitis Refractory to Induction With Rituximab in 3 Patients.","authors":"Nouran Eshak, Grace Ehikhueme, Malvika Ramesh, John Pixley","doi":"10.1177/23247096231215730","DOIUrl":"10.1177/23247096231215730","url":null,"abstract":"<p><p>Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitides are a group of immune-mediated diseases characterized by inflammation of small vessels, leading to endothelial injury with subsequent tissue damage. Current guidelines recommend induction therapy with rituximab over cyclophosphamide for severe disease activity. In this case series-based review, the authors discuss 3 cases of granulomatosis with polyangiitis (GPA) with proteinase-3 (PR3) disease that deteriorated following induction therapy with rituximab combined with mycophenolate mofetil and high-dose steroids. All 3 patients subsequently required salvage therapy with cyclophosphamide. Our experience suggests there is a temporal window where induction with rituximab is not fully effective, and deterioration or death can ensue. Expert recommendations do not offer a preferential protocol for induction with either rituximab or cyclophosphamide, with some even using a combination of both.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096231215730"},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10785719/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139403213","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}

{"title":"Cocaine Gut: A Rare Case of Cocaine-Induced Esophageal, Gastric, and Small Bowel Necrosis.","authors":"Lefika Bathobakae, Sacide S Ozgur, Rammy Bashir, Tyler Wilkinson, Phenyo Phuu, Ruhin Yuridullah, Gabriel Melki, Jessica Escobar, Sohail Qayyum","doi":"10.1177/23247096241242569","DOIUrl":"10.1177/23247096241242569","url":null,"abstract":"<p><p>Cocaine is an indirect-acting sympathomimetic drug that inhibits norepinephrine and dopamine reuptake in the adrenergic presynaptic cleft. Cocaine use has been associated with strokes, angina, arrhythmias, and agitation. Data on gastrointestinal complications such as mesenteric ischemia, bowel necrosis, ulceration, and perforation are scarce. Here, we present a rare case of cocaine-induced esophageal, gastric, and small bowel necrosis that contributes to the limited literature on this subject. Diagnosis of cocaine-induced gastrointestinal complications involves a combination of imaging studies, laboratory assessments, and histopathological examinations. Timely surgical resection, supported by intravenous fluids, antibiotics, and pain management, is the mainstay of treatment. The prognosis varies but is significantly influenced by the promptness and effectiveness of the intervention, underscoring the importance of vigilant clinical care in such cases.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241242569"},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10981220/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140305905","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}

{"title":"Steven-Jonhson Syndrome in a Patient With Dengue Infection in Peru: A Case Report.","authors":"Winny D Aparcana-Choque, Yadira M Pisconti-Palacios, Ivan Cordova-Tello, Jhon Ausejo-Galarza, Walter Gomez-Gonzales, Andrei Kochubei-Hurtado, Kovy Arteaga-Livias","doi":"10.1177/23247096241242574","DOIUrl":"10.1177/23247096241242574","url":null,"abstract":"<p><p>Stevens-Johnson syndrome is an infrequent condition affecting the skin and mucous membranes, it involves cutaneous detachment with high mortality without adequate treatment. We present the case of a 40-year-old male with a history of epilepsy treated with valproic acid and lamotrigine, previously diagnosed with dengue. Evaluation showed erythematous blisters on skin and mucosa with bleeding and desquamation, covering 10% of the body surface. The patient progressed favorably with the medical care received. Stevens-Johnson syndrome should be studied in association with arboviral diseases.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241242574"},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10981262/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140305906","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}