Journal of investigative medicine high impact case reports最新文献_第7页

A Case of Pulmonary Sarcoidosis With Multiple Endobronchial Polypoid Structures and Partial Airway Obstruction. 肺结节病合并多发性支气管内息肉样结构及部分气道阻塞1例。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 DOI: 10.1177/23247096251313630

Nagihan Orhun, Utku Ekin, Islam Rajab, Jessimar Sanchez, Arham Hazari, Mourad Ismail

引用次数: 0

Rising Into Relevance: A Rare Case of Saccharomyces cerevisiae Pyelonephritis in an Immunosuppressed Patient With Exposure to Sourdough Starter. 越来越重要：一例暴露于酵母发酵剂的免疫抑制患者的酿酒酵母肾盂肾炎。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 DOI: 10.1177/23247096251322284

Alissa Mingo, Drew Stone, Andrew D Schreiner, Richard Lueking

{"title":"Rising Into Relevance: A Rare Case of Saccharomyces cerevisiae Pyelonephritis in an Immunosuppressed Patient With Exposure to Sourdough Starter.","authors":"Alissa Mingo, Drew Stone, Andrew D Schreiner, Richard Lueking","doi":"10.1177/23247096251322284","DOIUrl":"10.1177/23247096251322284","url":null,"abstract":"Saccharomyces cerevisiae, commonly known as Baker's yeast, has been used in breadmaking, winemaking, and beer brewing for centuries. Although not generally regarded as pathogenic, rare cases of invasive infections have occurred in patients predisposed by critical illness, immunosuppression, or prolonged antibiotic use. Using data collected from the electronic medical record and personal interactions with the patient, we present a case of complicated S cerevisiae urinary tract infection (UTI). We searched terms (and permutations of terms) including Saccharomyces cerevisiae, Baker's or Brewer's yeast, and urinary tract infection using PubMed to identify previously published evidence of invasive S cerevisiae infections. Our patient is a 30-year-old woman with a history of rheumatoid arthritis on methotrexate, and previous admission for Candida glabrata UTI requiring intravenous antifungal therapies, who presented to her gynecologist with complaints of vaginitis and flank pain. Vaginal and urine cultures grew S cerevisiae, and the patient was diagnosed with pyelonephritis and admitted for treatment. A further review of the patient's history revealed daily exposure to S cerevisiae through baking sourdough bread. She was treated with 7 days of IV amphotericin deoxycholate and discharged on a 6-month course of suppressive oteseconazole for vulvovaginitis suppression. Saccharomyces cerevisiae is an exceedingly rare cause of invasive fungal UTI, with our literature review identifying only a few case reports of associated UTI and fungemia, all related to probiotic use. Our case emphasizes the importance of careful history taking and early diagnostic cultures in those at risk of invasive fungal infections.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251322284"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11851732/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143483346","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

Methimazole-Induced Cholestatic Jaundice: A Rare Case and Literature Review. 甲巯咪唑致胆汁淤积性黄疸1例及文献复习。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 DOI: 10.1177/23247096251317285

Ahmed Mohamed Nefzi, Dhouha Cherif, Habiba Dabbebi, Haythem Yacoub, Hajer Hassine, Hela Kchir, Khadija Bellil, Nadia Maamouri

{"title":"Methimazole-Induced Cholestatic Jaundice: A Rare Case and Literature Review.","authors":"Ahmed Mohamed Nefzi, Dhouha Cherif, Habiba Dabbebi, Haythem Yacoub, Hajer Hassine, Hela Kchir, Khadija Bellil, Nadia Maamouri","doi":"10.1177/23247096251317285","DOIUrl":"10.1177/23247096251317285","url":null,"abstract":"Methimazole is commonly prescribed for patients with hyperthyroidism. It typically exhibits a well-tolerated profile, with common side effects including gastrointestinal disorders and rash. However, more serious rare yet adverse reactions, notably agranulocytosis and hepatotoxicity have been documented in literature. Here we present a case of a 27-year-old female, recently diagnosed with Graves' disease, who was prescribed methimazole and developed severe pruritus with cholestatic jaundice 13 days later. Concomitant causes of liver disease were ruled out. The treatment was discontinued, and a switch to corticosteroid therapy with a regimen of radioactive iodine sessions was initiated. The patient's condition showed a resolution of pruritus and jaundice, a disappearance of cytolysis with an aggravation of cholestasis followed by a gradual decrease, leading to the liver function normalization after 2 years. Methimazole-induced cholestatic jaundice is a rare yet severe adverse effect. Patients should be aware of this complication and advised to immediately stop taking the treatment when suggestive symptoms (pruritus, jaundice, dark urine, light-colored stool) occur.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251317285"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11800239/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143255901","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

Sarcoidosis Presenting as a Giant Pulmonary Bulla With Concurrent COVID-19 Infection. 结节病表现为巨大肺大泡并并发COVID-19感染。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-05-08 DOI: 10.1177/23247096251340738

Sathish Krishnan, Anam Naumaan, Venu Pararath Gopalakrishnan

引用次数: 0

Unmasking Cystic Fibrosis in Adulthood, a Case Report. 揭露成年期囊性纤维化，一例报告。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-04-11 DOI: 10.1177/23247096251334248

Malina Mohtadi, Ruba Habib, Abraam Rezkalla, George Horani, Radhika Tailor, Patrick Michael

引用次数: 0

Recurrent DVT and Mediastinal Adenopathy: A Silent Manifestation of Gallbladder Cancer. 复发性深静脉血栓和纵隔腺病：胆囊癌的无声表现。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-05-21 DOI: 10.1177/23247096251340739

Zakaria Alagha, Tata Avalishvili, Samuel Crow, Samhitha Gundakaram, Thomas McIntosh, Muhammad Ghallab, Yousef Shweihat, Bisher Mustafa, Amro Al-Astal, Ahmed Mahdi

{"title":"Recurrent DVT and Mediastinal Adenopathy: A Silent Manifestation of Gallbladder Cancer.","authors":"Zakaria Alagha, Tata Avalishvili, Samuel Crow, Samhitha Gundakaram, Thomas McIntosh, Muhammad Ghallab, Yousef Shweihat, Bisher Mustafa, Amro Al-Astal, Ahmed Mahdi","doi":"10.1177/23247096251340739","DOIUrl":"10.1177/23247096251340739","url":null,"abstract":"Recurrent deep vein thrombosis (DVT) is a common complication, particularly in cancer patients. We present a case of a 50-year-old male with a history of a previous DVT. Despite therapeutic anticoagulation with apixaban, the patient developed recurrent DVT involving the common femoral, popliteal, and foreleg veins. He was started on a heparin drip in the hospital, but despite this, his DVT worsened. Imaging studies revealed mediastinal and hilar lymphadenopathy, raising suspicion of malignancy. The workup revealed elevated tumor markers, while the thrombophilia panel was unremarkable. Despite aggressive management, including mechanical thrombectomy, catheter-directed thrombolysis, and the placement of an inferior vena cava filter, the patient's condition continued to deteriorate. A biopsy of the mediastinal lymph nodes revealed poorly differentiated mucinous adenocarcinoma with molecular analysis consistent with hepatobiliary origin, and the patient was diagnosed with stage IVB gallbladder cancer. Given the rarity of gallbladder cancer and its association with hypercoagulability, this case highlights the importance of considering cancer as an underlying cause of recurrent DVT after ruling out common causes. Early recognition and a comprehensive diagnostic approach are essential for managing such cases. The patient was started on chemotherapy while maintaining anticoagulation for recurrent DVT.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251340739"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12099096/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144110953","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

Novel SPAST Deletion Mutation in an American Family With Hereditary Spastic Paraplegia: A Case Report. 一个美国家族遗传性痉挛性截瘫患者的新型SPAST缺失突变：一例报告。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 DOI: 10.1177/23247096251323173

Sydney B Bhopatkar, Juebin Huang

{"title":"Novel SPAST Deletion Mutation in an American Family With Hereditary Spastic Paraplegia: A Case Report.","authors":"Sydney B Bhopatkar, Juebin Huang","doi":"10.1177/23247096251323173","DOIUrl":"10.1177/23247096251323173","url":null,"abstract":"The diverse group of neurodegenerative disorders known as hereditary spastic paraplegia (HSP) is characterized by spasticity and weakness of the bilateral lower extremity due to degeneration of the corticospinal tract. The pathogenesis of HSP is broad, with autosomal dominant, autosomal recessive, X-linked recessive, mitochondrial inheritance, and de novo mutations reported, along with remarkable heterogeneity of mutations and clinical presentation. Of these, the most common subtype of HSP is HSP type 4 (HSP-SPG4), a result of mutations in the SPAST gene (chromosome 2p22.3) that leads to impaired activity of the microtubule-severing protein spastin. Typically presenting as an uncomplicated, autosomal dominant form of the disease, HSP-SPG4 has been documented worldwide with vast genomic variance across the SPAST gene. Despite common features in clinical phenotypes, a clear link between SPAST gene variants and disease presentation remains vague. Here, we report a novel 26.1 kb deletion in the SPAST gene (del exons 4-7) in a US family with previously undiagnosed HSP-SPG4.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251323173"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11869264/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523684","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

Coronary Vasculitis in Takayasu's: A Case Report and Review of the Literature on Optimal Surgical Intervention. 冠状动脉炎：一例报告及最佳手术干预的文献回顾。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-05-26 DOI: 10.1177/23247096251342427

Elizabeth Konon, Anum Shahzad, Raymundo Quintana Quezada, Jason Kolfenbach

{"title":"Coronary Vasculitis in Takayasu's: A Case Report and Review of the Literature on Optimal Surgical Intervention.","authors":"Elizabeth Konon, Anum Shahzad, Raymundo Quintana Quezada, Jason Kolfenbach","doi":"10.1177/23247096251342427","DOIUrl":"10.1177/23247096251342427","url":null,"abstract":"Takayasu's arteritis (TAK) is a rare, large-vessel vasculitis that typically involves the aorta and its major branches. Patients may experience coronary involvement, most commonly the left main coronary ostia. Patients with coronary artery occlusion often require emergent revascularization; however, there is debate regarding the optimal timing and type of surgical intervention in the setting of TAK. Herein we describe a 32-year-old female presenting with non-ST elevation myocardial infarction (NSTEMI) who underwent percutaneous intervention (PCI) with drug-eluting stent (DES) placement and was subsequently diagnosed with TAK. A 32-year-old female presented to the emergency department with chest pressure and dyspnea. Her electrocardiogram findings and troponin elevation were consistent with NSTEMI and she underwent coronary angiography with DES placement. During angiography, aortic insufficiency was noted. Transesophageal echocardiogram confirmed intimal thickening of the aortic root with aortic regurgitation. She was diagnosed with TAK, started on high-dose steroids, and transferred to a tertiary care center for rheumatology consultation. This patient's clinical course raised several questions regarding surgical intervention in TAK. The optimal timing of surgery and preferred approach (endovascular intervention vs coronary artery bypass grafting [CABG]) were specifically critiqued. While endovascular intervention (PCI with angioplasty or stent) is typically less invasive than CABG, it may be associated with a higher risk of postsurgical re-stenosis and studies are conflicting regarding the optimal approach. Further research is necessary to determine the long-term efficacy and safety of these interventions, as well as their timing in the overall management plan.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251342427"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12106977/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144142721","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

Early Manifestation of McCune-Albright Syndrome in a 32-Month-Old Female: A Rare Case Report. 一例32月龄女性早期表现为mcune - albright综合征的罕见病例报告。

IF 0.8

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-08-21 DOI: 10.1177/23247096251367692

Taha Z Makhlouf, Maryam S Mahareeq, Areej Abumazen, Tasneem Manasrah, Mera Badareen, Mahmoud S Zighan

{"title":"Early Manifestation of McCune-Albright Syndrome in a 32-Month-Old Female: A Rare Case Report.","authors":"Taha Z Makhlouf, Maryam S Mahareeq, Areej Abumazen, Tasneem Manasrah, Mera Badareen, Mahmoud S Zighan","doi":"10.1177/23247096251367692","DOIUrl":"https://doi.org/10.1177/23247096251367692","url":null,"abstract":"McCune-Albright syndrome (MAS) is a rare disorder, occurring in 1 in 100 000 to 1 in 1 000 000 live births, caused by post-zygotic somatic mutations in the GNAS gene. This leads to fibrous dysplasia (FD), café-au-lait (CAL) skin pigmentation, and hyperfunctioning endocrinopathies. We present a 32-month-old girl with recurrent vaginal bleeding, bilateral breast enlargement, and multiple irregular CAL spots crossing the midline. Imaging revealed ovarian cysts and skeletal lesions consistent with FD. Laboratory findings indicated gonadotropin-independent precocious puberty. A clinical diagnosis of MAS was made, and genetic testing was deemed unnecessary. MAS presents with variable severity, and early diagnosis requires clinical recognition of its hallmark features. Genetic testing can support the diagnosis, though its reliability may vary due to mosaicism. Management is symptomatic, focusing on controlling endocrine dysfunction and minimizing skeletal complications. Emerging therapies offer promise, but no definitive cure exists. Early recognition and management are crucial for optimizing outcomes.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251367692"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12374115/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957194","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

Idiopathic Secondary Eosinophilia: Revealing Cerebral Aneurysms as a Vascular Complication. 特发性继发性嗜酸性粒细胞增多症：揭示脑动脉瘤是一种血管并发症。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-05-31 DOI: 10.1177/23247096251342926

Rita D Moncayo, Mukhammad B Sultanov, Mojdeh Yadollahikhales, May Thet Hmu Tun, Omar P Azar, Meredith E Pittman, Navjot K Somal

{"title":"Idiopathic Secondary Eosinophilia: Revealing Cerebral Aneurysms as a Vascular Complication.","authors":"Rita D Moncayo, Mukhammad B Sultanov, Mojdeh Yadollahikhales, May Thet Hmu Tun, Omar P Azar, Meredith E Pittman, Navjot K Somal","doi":"10.1177/23247096251342926","DOIUrl":"10.1177/23247096251342926","url":null,"abstract":"Secondary eosinophilia has recently gained attention as a potential contributor to vascular pathologies, including aneurysms. This case report delves into the intricate relationship between secondary eosinophilia and cerebral aneurysms, a connection yet to be fully explored in medical literature. The case centers on a 31-year-old female who presented with leg pain, a purpuric rash, and gastrointestinal symptoms following an uncomplicated pregnancy. The skin biopsy revealed perivascular and interstitial dermatitis with a significant eosinophilic infiltration of unclear etiology. Laboratory investigations showed a markedly elevated immunoglobulin E (IgE) level at 8400 kU/L. Her condition escalated to a diffuse subarachnoid hemorrhage and the discovery of a left superior cerebellar artery aneurysm. This unusual presentation, combined with the challenge of differentiating secondary eosinophilia from primary eosinophilic disorders, raises questions about the pathophysiological mechanisms and clinical implications of eosinophils in aneurysm formation. We discuss the potential link between eosinophils and vascular damage and emphasize the need for further research in understanding this association. Clinically, this case underscores the importance of considering vascular complications in patients with unexplained eosinophilia. Sharing such cases contributes to a more informed and nuanced approach to similar future presentations, guiding diagnostic and therapeutic strategies.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251342926"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126640/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144191903","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