Journal of investigative medicine high impact case reports最新文献

{"title":"Real or Not Real? An Elevated TSH.","authors":"Marla E Sevilla-Alsina, Allison O Dumitriu Carcoana, Jane Y Yang, Michael J McPhaul, Mohammad Saiful Islam, Roy E Weiss","doi":"10.1177/23247096261430087","DOIUrl":"10.1177/23247096261430087","url":null,"abstract":"<p><p>A 19-year-old male presented with mild fatigue and chronic constipation and was found to have an elevated thyroid-stimulating hormone (TSH) level of 85 mIU/L, normal free thyroxine, and normal total triiodothyronine. This presentation was concerning for Macro-TSH, which is rare and may suggest hypothyroidism. This patient's diagnosis of Macro-TSH was confirmed by TSH antibody testing and gel filtration chromatography. We present this case to highlight the need to further evaluate TSH results when thyroid function tests are incompatible with the clinical presentation. Assessment for TSH antibodies, a commercially available test, or gold-standard gel filtration chromatography testing, which is not commercially available, can be used to diagnose Macro-TSH.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261430087"},"PeriodicalIF":0.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13010023/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147486298","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":"Inflammatory Myofibroblastic Tumor of the Lung: A Rare Find in an Elderly Female.","authors":"Maithri Vallabhaneni, Renu Bhargavi Boyapati, Sai Samhitha Avula Balliahgari, Chukwunonso Ezeani, Ashish Dahiya, Nicholas LeBlanc, Marshall Patrick Stagg","doi":"10.1177/23247096261435539","DOIUrl":"10.1177/23247096261435539","url":null,"abstract":"<p><p>Inflammatory myofibroblastic tumors (IMTs), originating from mesenchymal cells, are rare neoplasms with intermediate biological potential. Despite being predominantly benign, they can progress to locally aggressive disease and may recur over time. IMTs are predominantly seen in the pediatric population, making our case of IMT in an older adult even rarer. A 67-year-old female with a 42-pack-year smoking history presented with cough, fever, and progressively worsening exertional dyspnea. Imaging studies, including chest X-ray followed by chest computed tomography, identified a right lower lobe lung nodule without evidence of metastasis. Subsequent evaluation with robotic bronchoscopy and endobronchial ultrasound revealed densely cellular reactive lung tissue on lymph node biopsy. Ultimately, the patient underwent a robotic-assisted right lower lobectomy. Final pathology confirmed the diagnosis of an IMT. IMTs are characterized by the presence of spindle cells associated with dense monomorphic inflammatory cells. It has been found that IMT arises from chromosomal rearrangements that aberrantly activate various kinase signaling pathways. This understanding of the molecular mechanisms underlying IMT development has elucidated the neoplastic nature of the disease and has also been pivotal in distinguishing IMT from other inflammatory pseudotumors. Surgical resection remains the cornerstone of treatment, with targeted therapies offering promising results for unresectable or advanced cases. IMTs pose a multifaceted challenge in clinical practice due to their diverse clinical manifestations, histopathological variability, and unclear etiopathogenesis, underscoring the need for continued research and a multidisciplinary approach to optimize patient outcomes.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261435539"},"PeriodicalIF":0.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13039607/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147581572","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":"Overcoming Anchoring Bias: Granulomatosis With Polyangiitis in a Patient From a Tuberculosis-Endemic Region.","authors":"Arianna Rahimian, Leenah Abojaib, Donias Doko, Ali Kashkouli","doi":"10.1177/23247096251344722","DOIUrl":"10.1177/23247096251344722","url":null,"abstract":"<p><p>The differential diagnosis of a patient presenting with constitutional symptoms and pulmonary cavitary lesions on chest X-ray is broad, including pulmonary tuberculosis (TB) and vasculitic lung disease. Clinicians may consider sociodemographic factors in sequencing their differential, which should be verified with diagnostic tests according to appropriate pretest probability. Here, we present a case of misdiagnosing granulomatosis with polyangiitis as pulmonary TB. Although native to an endemic country, this patient had multiple negative TB tests and did not respond to rifampin, isoniazid, pyrazinamide, and ethambutol therapy. We consider anchoring implicit bias as a contributing factor for this patient's misdiagnosis and make recommendations for clinicians.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096251344722"},"PeriodicalIF":0.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13039637/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147581577","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":"Fungating Mass of the Glans Penis: A Case Report and Discussion on Penile Squamous Cell Carcinoma.","authors":"Dominic M Collins, Alex Marvin Simpkins, John Diks, Dale Robertson","doi":"10.1177/23247096251381563","DOIUrl":"10.1177/23247096251381563","url":null,"abstract":"<p><p>Penile squamous cell carcinoma (PSCC) is a rare presentation in the United States and Europe, accounting for only 1% of male malignancies. Most commonly due to human papilloma virus (HPV), PSCC has an insidious onset, often ignored by patients until functional impairments are present. This report outlines an interesting presentation of penile squamous cell carcinoma while focusing on current developments in the prognosis and treatment of PSCC. We present the case of a 68-year-old male who presented with a 5 cm fungating mass of the glans penis after emergent care following a stroke. Visual inspection revealed a large mass of the glans penis which had completely obliterated the urethral meatus. A partial penectomy and urethrostomy were performed. Surgical excision revealed a unifocal moderately differentiated (G2) squamous cell carcinoma, with immunohistochemical staining demonstrating p16 positivity, consistent with HPV-associated etiology. This case highlights the importance of individualized treatment regimens and prognostic determination for optimal patient outcomes.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096251381563"},"PeriodicalIF":0.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13080190/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147674262","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":"Ulcers and Eosinophils: A Rare Presentation of PDGFRA-Rearranged Myeloid Neoplasm Responding to Imatinib.","authors":"Aura Calderon, Shubhank Goyal, Jose Loayza Pintado, Brandon Cantazaro, Everardo Cobos","doi":"10.1177/23247096251414051","DOIUrl":"10.1177/23247096251414051","url":null,"abstract":"<p><p>Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase fusions (M/LN-eo-TK) are uncommon but highly treatable disorders. Among them, FIP1L1::PDGFRA-driven disease is distinguished by marked eosinophilia and multisystem involvement that can rapidly reverse with targeted therapy. We describe a 50-year-old man with uncontrolled diabetes who presented with progressive dyspnea, abdominal discomfort, and painful necrotic scrotal ulcers. Laboratory testing revealed leukocytosis with a striking absolute eosinophil count of 22.1 × 10³/µL, while imaging showed pulmonary infiltrates, small-bowel inflammation, and splenomegaly. Bone marrow examination demonstrated hypercellularity with prominent eosinophilic proliferation. Fluorescence in situ hybridization confirmed a PDGFRA rearrangement with CHIC2 deletion, establishing the diagnosis of FIP1L1::PDGFRA-positive M/LN-eo-TK. Imatinib was initiated at 400 mg daily, later reduced to 200 mg, leading to a rapid normalization of eosinophil counts and resolution of systemic and dermatologic manifestations within 2 weeks. The case highlights how delayed recognition of clonal eosinophilia can permit extensive organ injury, whereas early molecular testing and prompt initiation of imatinib yield dramatic clinical and hematologic remission. Persistent hypereosinophilia, particularly with cutaneous or gastrointestinal involvement, should prompt evaluation for PDGFRA-rearranged disease to enable early intervention and prevent irreversible tissue damage.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096251414051"},"PeriodicalIF":0.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12804641/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145966393","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":"Management Challenges of Acute Promyelocytic Leukemia in Pregnancy: A Case Report.","authors":"Joseph Hemry, Pranati Shah, Iris Lee, Aren Dermarderosian, Mojtaba Akhtari","doi":"10.1177/23247096251411669","DOIUrl":"10.1177/23247096251411669","url":null,"abstract":"<p><p>Acute promyelocytic leukemia (APML) is a rare hematologic emergency with a high mortality rate due to bleeding diathesis, which is due to a disseminated intravascular coagulation-like coagulopathy; APML is complicated enough to treat on its own and becomes particularly challenging when it occurs during pregnancy due to the complexities in managing both maternal and fetal health. APML is associated with a challenging therapeutic dilemma for pregnant women, and there is a risk of fetal malformations and developmental abnormalities caused by exposure to chemotherapy. A 31-year-old woman at 29 weeks of gestation presented with a 3-week history of fatigue. Complete blood count revealed pancytopenia, and further evaluation confirmed a diagnosis of APML. Due to her severe thrombocytopenia and associated pregnancy risks, ATRA therapy was initiated, and a primary Cesarean section was performed at 31 weeks 3 days of gestation to mitigate maternal and fetal complications. After delivery, arsenic trioxide was added to the treatment regimen, resulting in a favorable response. In this case report, we discuss clinical decisions and therapeutic interventions and compare our patient's case with those found in the literature. This case highlights the importance of prenatal care and early intervention in improving outcomes for both mother and child.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096251411669"},"PeriodicalIF":0.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12924916/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146258317","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":"Leukapheresis in Pediatric T-ALL with Extreme Hyperleukocytosis: A Case Highlighting the Importance of Early Recognition.","authors":"Allison Guild, Jeffrey Salomon, Jayesh Thakker, Shelly M Williams, James Ford","doi":"10.1177/23247096261429199","DOIUrl":"10.1177/23247096261429199","url":null,"abstract":"<p><p>Hyperleukocytosis (HL) in acute leukemia is associated with increased morbidity and mortality, mainly secondary to the effects of leukostasis. Many strategies for cytoreduction exist, however prompt initiation of chemotherapy is paramount. Leukapheresis is an additional strategy, though there is conflicting data for its use in HL in acute leukemia. Below we detail a case of HL and leukostasis in newly diagnosed pediatric T-cell acute lymphoblastic leukemia and the use of leukapheresis. We highlight that leukapheresis can rapidly and safely reduce the white blood cell count, as an adjunct to symptom management, and potentially prevent life-threatening complications while not delaying chemotherapy initiation. However, this case underscores that early recognition of HL prior to the development of severe neurological complications is critical, as once cerebral leukostasis with intracranial hemorrhage is established, neither leukapheresis nor chemotherapy may alter the fatal outcome. The patient's initial presentation with epistaxis and hematemesis two days prior-without laboratory evaluation-represents a missed opportunity that may have allowed earlier recognition and intervention.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261429199"},"PeriodicalIF":0.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13033054/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147521012","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":"Morganella Morganii Respiratory Infection as an Initial Presentation of Acute Myeloid Leukemia With Monocytic Differentiation: A Rare Opportunistic Pathogen in a Newly Diagnosed Immunocompromised Host.","authors":"Varun Muppidi, Ragul Manoharan, Rouba Isshak, Aqsa Sorathia Zoey, Ivan Mercado, Patrick Michael","doi":"10.1177/23247096261442154","DOIUrl":"10.1177/23247096261442154","url":null,"abstract":"<p><p>Infective manifestations of hematological malignancies can be traced to a variety of pathogens, necessitating broad spectrum empiric antibiotic coverage, and prompt identification of pathogenic microbes to improve clinical outcomes. We present a case of Morganella morganii leading to pneumonia as the presenting illness in a previously undiagnosed, functionally neutropenic adult presenting with acute myeloid leukemia with monocytic differentiation. Our patient was a 64 year old man with no prior medical care who presented with complaints of progressive abdominal pain, productive cough and fevers. Chest radiography revealed no organized consolidations, and computed tomographic imaging of the chest showed bibasilar atelectasis and trace pleural effusions. Laboratory analysis revealed marked leukocytosis with predominant monocytosis, and circulating blasts, suggestive of acute myeloid leukemia with monocytic differentiation, later confirmed with bone marrow biopsy. The patient was initially started on guideline directed empiric therapy for respiratory infection, with sputum cultures later found to be growing Morganella morganii, necessitating a change in antimicrobial therapy, following which the patient showed clinical improvement. To our knowledge, this is the first reported case of Morganella morganii pneumonia presenting at the initial diagnostic encounter of de novo acute myelomonocytic leukemia. This report underscores the need for prompt microbiologic evaluation, broad empiric coverage with early de-escalation, and inclusion of M. morganii in the differential diagnosis of pneumonia in functionally neutropenic patients when standard pathogens are not identified. This case highlights the need to recognize atypical Gram-negative organisms as potential pathogens in these populations, even in the absence of characteristic radiographic findings.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261442154"},"PeriodicalIF":0.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13110331/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147729215","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":"Stanford Type B Aortic Dissection in an Adult Patient With Unrepaired Coarctation of the Aorta.","authors":"Priya Ramcharan, Arun Katwaroo, Matthew Maharaj, Valmiki Seecheran, Nicholas Pereira, Adrian Chan, Rajeev Seecheran, Neal Bhagwandass, Naveen Seecheran","doi":"10.1177/23247096261416280","DOIUrl":"10.1177/23247096261416280","url":null,"abstract":"<p><p>Coarctation of the aorta (CoA) is a congenital narrowing typically detected in childhood; survival into adulthood without repair is uncommon. Aortic dissection (AD) is an exceedingly rare complication in this specific context, particularly involving the descending aorta. We describe a case of a 46-year-old Caribbean-Black male with a medical history of chronic hypertension (HTN) who presented with unstable angina and hypertensive crisis. Emergent computed tomography angiography revealed critical proximal descending CoA with poststenotic dilatation and an acute Stanford type B AD. He was initially stabilized on guideline-directed medical therapy, and while definitive surgical repair was recommended, the patient declined. This exceedingly rare case of type B AD complicating unrepaired CoA underscores the importance of recognizing congenital aortic disease as a cause of refractory HTN in adults. Additionally, it highlights the need for continued vigilance for long-term complications in adults with congenital heart disease.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261416280"},"PeriodicalIF":0.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12852590/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146064220","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":"Unusual Thromboembolic Sequelae of MRSA Bacteremia in A Pediatric Patient: A Case Report.","authors":"Shahd Khatib, Omer Innab, Nardeen Hammad, Adel Rajab, Shahd Al-Aloul, Miar Haj-Abdalrahman, Aysha Masri","doi":"10.1177/23247096261440355","DOIUrl":"10.1177/23247096261440355","url":null,"abstract":"<p><p>Methicillin-resistant <i>Staphylococcus aureus</i> infection can cause serious illness in children. It can progress to life-threatening bloodstream issues or bone infections, including: deep vein thrombosis, septic pulmonary embolism, toxic shock syndrome, and osteomyelitis. Treatment depends on control of infection with adequate antibiotics and early anticoagulation. We present a case of a 11-year old male child who presented with left arm and right leg pain and swelling that was associated with fever. However, there was no history of trauma. Blood culture was taken and showed Methicillin-resistant <i>Staphylococcus aureus</i> growth. Initial ultrasound of the affected limbs was unremarkable except for subcutaneous edema. On the following day, ultrasound of the affected limbs was consistent with deep vein thrombosis. Additionally, the patient developed pleuritic chest pain and a computed tomography scan with pulmonary angiography demonstrated a filling defect in the left upper segmental artery suggesting septic pulmonary embolism. Magnetic resonance imaging of the lower limbs was recommended and it suggested the diagnosis of osteomyelitis. Ultrasound guided drainage was done and the patient was treated with appropriate antibiotics and enoxaprine. Multifocal thromboembolic events with osteomyelitis in an immunocompetent child are rare and clinically important. This case highlights the complex nature of methicillin-resistant <i>Staphylococcus aureus</i> infection in pediatrics and emphasizes the value of early imaging and multidisciplinary collaboration to establish an accurate diagnosis and a good clinical outcome. Awareness of such presentations can facilitate earlier diagnosis and intervention, to reduce the risk of complications in pediatric patients.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"14 ","pages":"23247096261440355"},"PeriodicalIF":0.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13053971/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147623351","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}