Case Reports in Medicine最新文献

{"title":"A 29-Year-Old Man With Type 2 Hermansky-Pudlak Syndrome and Wolff-Parkinson-White Syndrome: The Hypothesis of a Potential Link Between These Two Conditions.","authors":"Riccardo Alcidi, Tommaso Campanella, Rosa Curcio, Lorenzo Chiatti, Alessio Arrivi, Lucia Ferranti, Giovanni Carreras, Mauro Barabani, Giacomo Pucci","doi":"10.1155/carm/5525411","DOIUrl":"https://doi.org/10.1155/carm/5525411","url":null,"abstract":"<p><p>A 29-year-old Moroccan with oculocutaneous albinism presented with a history of exertional dyspnea, recurrent epistaxis, and bacterial infections, raising suspicion of Hermansky-Pudlak syndrome (HPS). Further evaluation revealed neutropenia, impaired platelet function, pulmonary fibrosis, and mild pulmonary hypertension. An ECG identified ventricular pre-excitation with a postero-septal right accessory pathway, consistent with Wolff-Parkinson-White (WPW) syndrome. Genetic testing confirmed a homozygous mutation in the <i>AP3B1</i> gene and a diagnosis of Type 2 HPS (HPS-2) was made. HPS-2 is an extremely rare disorder, and to our knowledge, the co-occurrence of WPW syndrome has not been previously reported in literature. We propose a potential causal link between these two conditions, as mutations in the <i>AP3B1</i> gene-which encodes the beta subunit of the adapter protein 3 trafficking complex-result in mistrafficking of transmembrane proteins from the endosomal and trans-Golgi network to lysosomes and endosome-lysosome-related organelles. Specifically, the dysfunction of a transmembrane protein, namely the lysosome-associated membrane protein 2 (LAMP-2), has been implicated in the development of cardiac accessory pathways, as seen in Danon disease. We hypothesize that individuals with HPS-2 may have a genetic predisposition to WPW syndrome, and this hypothesis should be investigated in further studies.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"5525411"},"PeriodicalIF":0.8,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12041638/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143954907","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 Not-So-Sweet Crohn's Disease: A Case Report of Ileocecal Crohn's Disease Unmasked by Sweet Syndrome.","authors":"Amir Omar, Rayane Salameh, Karam Karam, Chakib Khoury, Elias Fiani","doi":"10.1155/carm/6680526","DOIUrl":"https://doi.org/10.1155/carm/6680526","url":null,"abstract":"<p><p>Sweet syndrome (SS) is an acute febrile neutrophilic dermatosis characterized by a constellation of clinical symptoms and histologic findings: pyrexia, neutrophilia, and tender and erythematous cutaneous lesions (plaques, nodules, and papules) with neutrophilic infiltration of the upper reticular dermis. SS can be either an inflammatory disease or a hypersensitivity disorder. SS has been associated with autoimmune disease, such as inflammatory bowel disease (IBD), rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and sarcoidosis. We herein present a case of a 70-year-old white male presenting for persistent fevers, rash, intermittent diarrhea, and hematochezia. The patient had marked improvement of his clinical symptoms following systemic corticosteroid treatment. He was diagnosed with SS and ileocecal Crohn's disease (CD). This article highlights the need to rule out CD in the setting of SS and gastrointestinal (GI) manifestations.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"6680526"},"PeriodicalIF":0.8,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12037254/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143985694","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":"Seronegative Disseminated Cryptococcosis: A Case Report.","authors":"Maria Roell, Kevin Baker","doi":"10.1155/carm/5564622","DOIUrl":"https://doi.org/10.1155/carm/5564622","url":null,"abstract":"<p><p>Cryptococcal infection is a major cause of morbidity and mortality in immunocompromised patients, especially those with HIV/AIDS. The cryptococcal antigen (CrAg) lateral flow assay (LFA) has become an essential diagnostic tool due to its high sensitivity, specificity, and ability to produce rapid results. However, this test is not without limitations. This case details a patient with disseminated cryptococcosis with a negative serum CrAg LFA and an unremarkable brain MRI to demonstrate the importance of cerebrospinal fluid testing in high-risk immunocompromised individuals.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"5564622"},"PeriodicalIF":0.8,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12033059/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143972774","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":"Challenges in Diagnosing Necrotizing Sarcoid Granulomatosis: The First Case Reported From Indonesia.","authors":"Gurmeet Singh, Ramadhan Karsono, Soedarman Sjamsoe, Muhammad Rizki Triono, Rina La Distia Nora, Devi Felicia, Fajar Lamhot Gultom, Daniel Ruslim, Arif Sejati, Ralph Girson Gunarsa, Ceva Wicaksono Pitoyo, Cleopas Martin Rumende","doi":"10.1155/carm/3219868","DOIUrl":"https://doi.org/10.1155/carm/3219868","url":null,"abstract":"<p><p>Necrotizing sarcoid granulomatosis (NSG) is a rare disease characterized by granulomatous and necrotic features as well as vasculitis, and it primarily affects the lungs, with occasional extrapulmonary manifestations. The first documented case was in Jakarta, Indonesia. A 71-year-old male presented with prolonged fever, a neck mass, and multiple mediastinal lymphadenopathy. The disease was initially suspected as lung tuberculosis, but a surgical biopsy of the left thyroid lobe confirmed the NSG pattern. Treatment with oral prednisolone led to positive outcomes, as evidenced by radiological improvement at the 3-month follow-up. This case report aims to emphasize the challenges and the importance of clinician awareness in diagnosing NSG.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"3219868"},"PeriodicalIF":0.8,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12011462/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143976758","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 Case of AIDS Diagnosed in the Intensive Care Unit with Concurrent Influenza Infection and <i>Pneumocystis jirovecii</i> Pneumonia.","authors":"Yeliz Özdemir, İlhan Bahar, Gülfem Ece","doi":"10.1155/carm/5588716","DOIUrl":"https://doi.org/10.1155/carm/5588716","url":null,"abstract":"<p><p><b>Introduction:</b> People living with HIV (PLWH) are highly susceptible to respiratory infections, particularly pneumonia, which is often polymicrobial. A rapid decline in CD4 T lymphocytes, especially with concurrent influenza, increases the risk of <i>Pneumocystis jirovecii</i> pneumonia (PCP). <b>Case Presentation:</b> This report discusses a newly diagnosed Acquired Immunodeficiency Syndrome (AIDS) patient with influenza and PCP coinfection, highlighting diagnosis, follow-up, and prognosis. <b>Conclusions:</b> Community-acquired pneumonia is common in PLWH, especially among those not receiving antiretroviral therapies (ART). Co-infections with bacterial, viral, and fungal pathogens are common. Early identification of etiological agents and prompt treatment are crucial for improving patient outcomes.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"5588716"},"PeriodicalIF":0.8,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12011458/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143980654","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":"Assessing Intervertebral Disk Tissue Mechanics Using Dual-Actuator Multifrequency Magnetic Resonance Elastography: Case Reports.","authors":"Johannes Castelein, Tue Secher Jensen, Ronald Borra, Karen Kettless, Lau Brix, Greg Kawchuk","doi":"10.1155/carm/5383659","DOIUrl":"https://doi.org/10.1155/carm/5383659","url":null,"abstract":"<p><p><b>Background:</b> Degenerative disk disease (DDD) is a progressive condition that occurs when the intervertebral discs (IVDs), which act as shock absorbers between the vertebrae, degenerate or wear out. Due to this degeneration process, the mechanical properties of the IVD, providing flexibility between adjacent vertebrae, can change. Thus, assessing these mechanical properties may improve diagnosis and treatment guidance for DDD. In this article, we tested in vivo multifrequency magnetic resonance elastography (MMRE) of the human IVD in identifying progressively DDD in three asymptomatic male volunteers aged 32, 50, and 60 years. <b>Methods:</b> MMRE of the lumbar spine was acquired using a dual-actuator setup and operated at four frequencies from 60 to 90 Hz. MMRE data were postprocessed using multifrequency wave-number recovery (k-MDEV) inversion algorithm. The resulting shear wave speed (SWS) values were used as a surrogate parameter of tissue stiffness and then compared to Pfirrmann grading (Pf) of disc degeneration (1-5) performed by an experienced MRI spine researcher. <b>Results:</b> Morphological Pf demonstrated an inverse relationship between increasing IVD stiffness and progressive IVD degeneration by a Spearman's rank correlation coefficient of <i>ρ</i> = -0.792, <i>p</i> < 0.001. <b>Conclusion:</b> MMRE allows measurement of in vivo mechanical properties of IVDs and may provide additional information in disc degeneration beyond standard morphological changes. Prior to the clinical use of this technique, future studies should be conducted to evaluate the reproducibility and repeatability of spinal MMRE in the spine, and particularly its potential confounders.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"5383659"},"PeriodicalIF":0.8,"publicationDate":"2025-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12009675/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143985280","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 Diagnostic and Therapeutic Approach to Retained Anchoring Sutures: Color Doppler Ultrasound for Diagnosing and the Retract-and-Cut Technique for Minimizing Invasive Interventions.","authors":"Ali Hajihashemi, Reza Tavakoli, Mahsa Geravandi","doi":"10.1155/carm/3019138","DOIUrl":"https://doi.org/10.1155/carm/3019138","url":null,"abstract":"<p><p><b>Background:</b> Retained sutures following catheterization procedures are rare but can present significant diagnostic and therapeutic challenges. This case highlights a novel approach to diagnosing and managing a retained anchoring suture following catheter removal for abdominal fluid drainage in a patient with pancreatic adenocarcinoma and metastatic ascites. The use of color Doppler ultrasound to identify the suture's path and the application of the retract-and-cut technique minimized invasive interventions, demonstrating a safe and effective alternative to surgical removal. <b>Case Presentation:</b> A 68-year-old male with pancreatic adenocarcinoma and metastatic ascites underwent subhepatic fluid drainage using an 8Fr pigtail catheter. After successful drainage and catheter removal, the patient presented with localized pain and tenderness at the catheter insertion site. Ultrasound revealed a hyperechoic linear structure in the subcutaneous tissue suggestive of a retained suture. Real-time visualization using color Doppler ultrasound confirmed the suture's path as a linear Doppler signal was observed during manipulation. Given the adhesion of the suture to deeper tissues, the retract-and-cut technique was employed. The suture was gently pulled taut at the skin surface, cut, and allowed to retract along its original track, avoiding unnecessary trauma. The patient experienced no recurrence of symptoms, fluid collection, or infection during long-term follow-up. <b>Conclusions:</b> This case underscores the importance of timely diagnosis using color Doppler ultrasound, which provided real-time visualization of the retained suture and its relationship with surrounding tissues. In addition, the retract-and-cut technique offers a minimally invasive and effective approach for managing retained sutures, avoiding the need for surgical intervention. This method ensures patient comfort and safety, particularly in palliative care settings where nonsurgical options are prioritized.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"3019138"},"PeriodicalIF":0.8,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11996266/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143977896","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":"Severe Hemolytic Crisis in Uncontrolled AIHA Triggered by Dengue.","authors":"Christian Alberto Rodriguez-Saldaña, Sofía Cavalcanti-Ramírez, Carmen Claudia Quesada-Osoria, Luis Gabriel Farfan-Chavez, Guiovanna María Wong-Terrones, Helena Karin Dominguez-Troncos","doi":"10.1155/carm/8165658","DOIUrl":"10.1155/carm/8165658","url":null,"abstract":"<p><p>We present the case of a woman with a history of autoimmune hemolytic anemia (AIHA), untreated for 1 year, who presented with fever, myalgia, arthralgia, anemia, and thrombocytopenia, along with a positive nonstructural protein antigen 1 (NS1Ag) test. During the course of dengue, the patient developed severe hemolytic anemia, posing a potentially life-threatening scenario due to the rapid decline in hemoglobin levels and the risk of multiorgan failure. Treatment with methylprednisolone was initiated alongside supportive care for dengue, and balancing corticosteroid risks in a viral infection was crucial to stabilize the patient, ultimately leading to a favorable outcome. This case highlights the importance of prompt diagnosis and integrated management of autoimmune diseases and viral coinfections in dengue-endemic areas.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"8165658"},"PeriodicalIF":0.8,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11972129/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143794694","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":"Effect of the Carbon-Curved Cane Use on Gait in Chronic Stroke-Induced Hemiplegia: A Prospective Single-Case Study.","authors":"Ryu Kokuwa, Yuta Sakai, Yosuke Nagasaka, Yuki Iwama, Kazune Matsubara, Yuuma Ueno, Seiichi Matsushita, Junpei Ishikawa","doi":"10.1155/carm/7294729","DOIUrl":"10.1155/carm/7294729","url":null,"abstract":"<p><p><b>Background:</b> Canes are used by patients with hemiplegia to improve gait and ambulation, but the effects of different types of canes remain unclear. Therefore, this study compared the effectiveness of a newly developed carbon-curved cane (CC-C) with that of a conventional cane using gait analysis of patients with chronic stroke-induced hemiplegia. <b>Case:</b> A 41-year-old male was diagnosed with cardiogenic cerebral infarction 3 years ago. The patient is independent in his activities of daily living and participates alone in the community using a single-point cane (SP-C). This study utilized an AB design with two conditions: the use of an SP-C and a CC-C. Gait evaluation included a three-dimensional gait analysis and analysis of the ground reaction force (GRF) applied to the cane using a force plate. The main outcomes were the spatiotemporal gait characteristics, and the suboutcomes were range of motion (ROM), center of mass (COM) trajectory, and GRF applied to the cane. Wilcoxon rank-sum test was performed to clarify the difference between SP-C and CC-C use with a significance level of <i>p</i>=0.05. Gait velocity, paretic and nonparetic step length, stride length, cadence, and single-stance time tended to be higher, and the preswing time was lower with CC-C than with SP-C use (<i>p</i> < 0.05). Differences were observed in limb ROM and COM trajectory (<i>p</i> < 0.05) with GRF tending to have a higher propulsion force in CC-C and SP-C having higher braking and medial forces. <b>Conclusion:</b> CC-C improved gait and demonstrated different GRF values than SP-C.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"7294729"},"PeriodicalIF":0.8,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11964723/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143771481","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":"Severe Pulmonary Blastomycosis in a Young Adult: Probable Role of E-Cigarette Use in Immunosuppression.","authors":"Rajat Gupta, Barath Prashanth Sivasubramanian, Ajay Sriram Antony Raj, Sudha Dirisanala, Tahani Dakkak, Ashley Williams, Navneeth Bongu","doi":"10.1155/carm/6019638","DOIUrl":"10.1155/carm/6019638","url":null,"abstract":"<p><p><b>Background:</b> E-cigarette use has become increasingly prevalent among young adults, raising concerns about its potential health impact and susceptibility to infections. <i>Blastomyces dematitidis</i>, the causative agent of blastomycosis, is a dimorphic fungus endemic to certain regions of the United States. We present a rare presentation of pulmonary blastomycosis in a young, immunocompetent male with chronic e-cigarette use, highlighting the need to consider fungal infections in the differential diagnosis of pneumonia of unknown etiology in patients with risk factors for respiratory illness. <b>Presentation:</b> A 20-year-old male with a 4-year history of daily e-cigarette use and gutter cleaner by occupation presented with a 10-day history of worsening cough, bloody sputum, shortness of breath, night sweats, fever, and weight loss. He was hemodynamically stable, required minimal oxygen support, and was admitted for chest X-ray showing right upper lobe pneumonia and cavitary lesion. The patient was tested for community-acquired pneumonia, atypical pneumonia, granulomatous diseases, and immunosuppressive and viral lymphoproliferative disorders. A diagnostic bronchoscopy ultimately confirmed blastomycosis, leading to treatment with amphotericin B and itraconazole, resulting in significant clinical improvement. <b>Conclusion:</b> Pulmonary blastomycosis often presents asymptomatically, with severe cases more common in the elderly or those with comorbidities and immune dysfunction. Physicians tend to overlook it as a differential diagnosis for primary lung infections, focusing on bacterial pneumonia and tuberculosis in younger individuals. This case underscores the need for further investigation into the impact of e-cigarette use on immune function. This case also highlights the importance of making blastomycosis a reportable disease in Georgia, considering its increasing incidence and the widespread construction and soil disturbance occurring throughout the state.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"6019638"},"PeriodicalIF":0.8,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11961275/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143762536","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}