Journal of investigative medicine high impact case reports最新文献

{"title":"A Flea-Borne Mystery: Unraveling Murine Typhus in a Patient with Unexplained Encephalopathy.","authors":"Jose Loayza Pintado, Jorge Aboytes, Cesar Uribe","doi":"10.1177/23247096251345086","DOIUrl":"10.1177/23247096251345086","url":null,"abstract":"<p><p>Murine typhus is a flea-borne rickettsial infection caused by <i>Rickettsia typhi</i>, commonly seen in endemic regions like Southern California and Texas. While it typically presents with fever, rash, and headache, neurological symptoms such as altered mental status are rare. We present a case of a 66-year-old male in southern Texas with alcohol use disorder who developed progressive confusion, decreased appetite, and subjective fevers. He was found to have severe hyponatremia, acute kidney injury, and atrial fibrillation with rapid ventricular response. Despite supportive care and empiric antibiotics for a urinary tract infection, his encephalopathy persisted. Further history revealed exposure to flea-infested cats, prompting rickettsial testing and empiric doxycycline. Typhus immunoglobulin M antibodies later confirmed the diagnosis, and the patient showed marked improvement with doxycycline therapy. Murine typhus with altered mental status is a rare presentation, often leading to diagnostic delays. This case occurred in an endemic region, with exposure to flea-infested cats as a significant risk factor. The patient's persistent encephalopathy prompted a broad workup, including rickettsial testing, which was confirmed on serology testing. Early doxycycline initiation led to symptom resolution. This case highlights a rare neurological presentation of murine typhus and emphasizes the importance of considering it in patients with unexplained encephalopathy in endemic areas.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251345086"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126656/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144191899","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":"Successful Treatment of Double-Positive Rapidly Progressive Glomerulonephritis: A Case Report.","authors":"Johnny Zaatar, Sacha El Khoury, Hany El Khoury, Jessika Eid","doi":"10.1177/23247096251365418","DOIUrl":"10.1177/23247096251365418","url":null,"abstract":"<p><p>In this case report, we describe a case of double-positive rapidly progressive glomerulonephritis among the Lebanese population. The patient, a 44-year-old female, presented with anemia and a recurrent right middle lobe pneumonia. She rapidly developed renal failure with her autoimmune workup being positive for both anti-glomerular basement membrane antibodies and anti-neutrophil cytoplasmic antibodies. The patient was successfully treated with plasmapheresis, intravenous cyclophosphamide, and oral prednisone. The patient regained her normal renal function and did not depend on dialysis for renal and overall survival. At 6-month follow-up, the patient is in remission on a steroids taper. As treatment guidelines are still not well established for such unique presentations, this report highlights the importance of early intervention and combined therapy to treat double-positive rapidly progressive glomerulonephritis.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251365418"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12335642/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144804253","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":"Silent Rupture: Atypical Presentation of Aorto-Caval Fistula Secondary to Giant Abdominal Aortic Aneurysm.","authors":"Lamia Azizi, Antonio Al Hazzouri, Philippe Attieh, Rose Mary Daou, Joya Ghaleb, Karam Karam, Mehsen Azizi, Elias Fiani","doi":"10.1177/23247096251358669","DOIUrl":"10.1177/23247096251358669","url":null,"abstract":"<p><p>Abdominal aortic aneurysm (AAA) is a potentially life-threatening condition characterized by abnormal dilation of the abdominal aorta, typically due to chronic arterial wall degeneration. Aorto-caval fistula (ACF) is a rare but serious complication of AAA, occurring in less than 1% of cases overall, with incidence increasing in the setting of rupture. ACF involves the formation of an abnormal communication between the abdominal aorta and the inferior vena cava (IVC), resulting in blood shunting from the arterial to the venous system. This can cause reduced organ perfusion, high-output cardiac failure, and multiorgan dysfunction. We present the case of a 65-year-old hypertensive male with a known AAA who presented with 2 days of abdominal pain but no systemic or gastrointestinal symptoms. Physical examination revealed periumbilical tenderness, while laboratory results were normal. Contrast-enhanced computed tomography of the abdomen revealed a large (10 cm) infrarenal AAA with evidence of rupture, mural thrombus, and a fistulous connection to the IVC. The patient underwent successful endovascular repair with complete resolution of the aneurysm and fistula, as shown in follow-up imaging. This case highlights the importance of high clinical suspicion and the role of early imaging in diagnosing ACFs, even in the absence of classical signs or lab abnormalities. The aim is to raise awareness of such atypical presentations and emphasize our case's uniqueness in its silent, stable, yet severe presentation.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251358669"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12317216/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144760327","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":"Hereditary Cancer Syndromes in Familial Breast Cancer: Insights Into Proactive Gastric Cancer Surveillance.","authors":"Jennifer Wiese, Swapna Sirigireddy, Abdelwahap Elghezewi, Ibrahim Shanti, Mikayla Myers, Bassel Dakkak, Mustafa Ben Khayal, Thomas Wright, Wesam Frandah, Zakaria Alagha","doi":"10.1177/23247096251358660","DOIUrl":"10.1177/23247096251358660","url":null,"abstract":"<p><p>Hereditary diffuse gastric cancer (HDGC) is a rare and aggressive cancer that accounts for 1% to 3% of gastric cancer cases, often diagnosed late with poor outcomes, and it is due to a mutation in the Cadherin 1 (CDH1) gene. We present 2 sisters, ages 62 and 70, both carrying the CDH1 mutation, which is associated with significantly increased risks of HDGC and breast cancer. Both were diagnosed with invasive lobular carcinoma of the breast, a known manifestation of CDH1 mutations, emphasizing the need for genetic screening in patients with strong family cancer histories. Despite their elevated HDGC risk, the sisters declined prophylactic surgery. Instead, they pursued annual endoscopic gastro-duodenoscopies with ultrasound surveillance tailored to their needs. This case highlights the importance of recognizing rare genetic mutations and integrating family history into personalized clinical management.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251358660"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12450275/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145092129","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":"Relapsing Polychondritis-Associated Myocardial Infarction With Non-Obstructive Coronary Arteries.","authors":"Narine Mack, Arun Katwaroo, Matthew Maharaj, Ryan Ramdin, Priya Ramcharan, Valmiki Seecheran, Rajeev Seecheran, Neal Bhagwandass, Naveen Seecheran","doi":"10.1177/23247096251381593","DOIUrl":"10.1177/23247096251381593","url":null,"abstract":"<p><p>We describe a 40-year-old South Asian female with relapsing polychondritis-associated myocardial infarction with non-obstructive coronary arteries during an acute flare for which she was successfully managed with guideline-directed medical therapy. The clinician should be cognizant of this rare association, especially in patients who present with acute coronary syndromes and chronic, pre-existing autoimmune syndromes.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251381593"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12477394/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145182012","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":"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":"Stress in Focus: A Rare Case of Mid-Ventricular Takotsubo Cardiomyopathy Presenting as Cardiac Asthma.","authors":"Hasan Munshi, Lefika Bathobakae, Aqsa Sorathia, Reshma John, Jesus Romero, Sheriff Elkattawy, Hartaj Virk","doi":"10.1177/23247096251336631","DOIUrl":"10.1177/23247096251336631","url":null,"abstract":"<p><p>Mid-ventricular Takotsubo cardiomyopathy (TCM) is a variant of Takotsubo syndrome characterized by transient akinesis or dyskinesis of the mid-ventricular segments of the left ventricle, with sparing of the apical and basal segments. This differs from the typical apical form, which involves akinesis of the apical segments and hyperkinesis of the basal segments. Herein, we describe a unique case of mid-ventricular TCM presenting as cardiac asthma in a postmenopausal woman. Our patient reported a 2-day history of shortness of breath and intermittent wheezing that persisted even with respiratory treatment. Triage blood tests showed elevated troponin levels, and electrocardiogram was notable for septal Q waves, raising concern for acute coronary syndrome (ACS). Left heart catheterization revealed nonobstructive coronary artery disease, and ventriculography revealed mid-ventricular dyskinesia with a hypercontractile apex and base, consistent with mid-ventricular TCM. The ACS protocol was aborted, and the patient was managed conservatively with beta-blockers. Repeat echocardiogram at the 3-month follow-up showed recovered heart function, with no wall motion abnormalities.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251336631"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12065979/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144004254","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":"Therapeutic Segmental Pulmonary Lavage for Methanol Inhalation Poisoning in a Shrimp Processing Plant Worker: A Novel Approach to Toxic Inhalants.","authors":"Killen H Briones-Claudett, Mónica H Briones-Claudett, Killen H Briones-Zamora, Anahí D Briones-Zamora, Priscilla Granados Higgins, Diana Briones Marquez, Jaime Benítes Solís, Pedro Barberan-Torres, Michelle Grunauer","doi":"10.1177/23247096251377186","DOIUrl":"10.1177/23247096251377186","url":null,"abstract":"<p><p>Inhalation of methanol vapor is a rare but potentially life-threatening occupational hazard, particularly in environments with inadequate ventilation and safety controls. We report the case of an 18-year-old male shrimp processing worker who developed acute respiratory failure following accidental inhalation of methanol vapors mislabeled as kerosene. The patient presented with severe dyspnea, hypoxemia, metabolic acidosis, and radiographic findings of diffuse pulmonary infiltrates. He required mechanical ventilation, corticosteroids, antibiotics, and intensive supportive care. Bronchoscopy revealed erythematous bronchial mucosa with hemorrhagic stippling and was followed by bronchoalveolar lavage (BAL). Based on imaging findings, therapeutic segmental pulmonary lavage (TSPL) was performed, targeting the most affected lower lobe segments. The procedure involved instillation and aspiration of small saline aliquots to remove inflammatory debris. Following TSPL, the patient exhibited marked clinical improvement, with normalization of inflammatory markers and successful extubation within 48 hours. This case illustrates the potential value of TSPL as an adjunctive therapy in methanol-induced chemical pneumonitis. Unlike standard BAL, TSPL enables targeted clearance of toxic exudates from specific lung segments, potentially accelerating recovery in patients with localized airway injury. Given the rarity of inhalational methanol poisoning and the absence of established respiratory interventions beyond supportive care, TSPL may offer a novel approach to managing severe pulmonary complications. This experience highlights the need for heightened clinical awareness of inhalational toxic exposures and further research into therapeutic lavage techniques. Our findings suggest that TSPL could be considered in selected cases of toxic inhalation injury when conventional measures fail to produce timely improvement.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251377186"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433550/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145054104","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":"Myocardial Infarction Masking: A Rare Case of Coronary-Subclavian Steal Syndrome.","authors":"Sinen Tadesse Zeleke, Davinder Singh, Alec Fletcher, Izza Saeed, Noor Rabbani, Rameez Sayyed","doi":"10.1177/23247096251367580","DOIUrl":"10.1177/23247096251367580","url":null,"abstract":"<p><p>Coronary-subclavian steal syndrome (CSSS) is a rare but important complication following coronary artery bypass grafting (CABG) involving the left internal mammary artery (LIMA), typically due to proximal subclavian artery stenosis. We present a 54-year-old male with prior triple-vessel CABG (LIMA to left anterior descending) who developed acute chest pain and elevated troponin levels. Electrocardiogram showed diffuse ST-segment changes. Emergent angiography revealed patent grafts but critical 90% stenosis of the left subclavian artery proximal to the LIMA origin. The lesion was successfully treated with percutaneous angioplasty and drug-eluting stent placement, resulting in the resolution of symptoms and preserved cardiac function. CSSS, though uncommon, should be considered in post-CABG patients with recurrent angina or myocardial injury despite patent grafts. Literature estimates subclavian stenosis in up to 5% of CABG candidates, yet routine screening remains inconsistent. This case highlights CSSS as a reversible cause of ischemia and underscores the value of targeted vascular imaging in selected patients.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251367580"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12444056/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145075476","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":"Brain Metastasis as the Initial Presentation of Carcinoid Tumor: Case Report and Literature Review.","authors":"Qusai A Alsalah, Taha Z Makhlouf, Donya Y Alqam, Maen HajMohammad, Ahmad G Hammouri, Marwan Qubaja, Bashir Abu Aqeel","doi":"10.1177/23247096251339308","DOIUrl":"https://doi.org/10.1177/23247096251339308","url":null,"abstract":"<p><p>Neuroendocrine neoplasms of the lung include neuroendocrine carcinomas and neuroendocrine tumors (NETs). NETs are also known as carcinoid tumors (CaTs), which are categorized as typical carcinoid and atypical carcinoid (AC). Pulmonary CaTs often metastasize to various sites, including regional lymph nodes, lungs, liver, and bone; however, metastasis to the brain is relatively rare. It is even rarer for patients with CaTs to present with signs of brain metastasis initially. We report the case of a 50-year-old female patient who initially presented with neurological symptoms and magnetic resonance imaging findings suggestive of multiple sclerosis. Despite initial treatment for multiple sclerosis, further evaluation uncovered a rare case of bronchopulmonary AC tumor metastasis to the brain. This case highlights the importance of considering metastatic disease in patients presenting with atypical neurological symptoms, especially when initial management fails to yield expected outcomes. Our literature review revealed 7 cases of CaTs initially presenting with brain metastases, with our patient being the youngest among all published cases.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251339308"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12065991/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144028944","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}