Aseel Abuhammad, Maram Albandak, Mohammed Ayyad, Arein Madia, Osama N Dukmak, Laith Alamleh
{"title":"Sarcoidosis Presenting as Granulomatous Mastitis, Erythema Nodosum, and Arthritis Syndrome: A Case Report and Comprehensive Review of the Literature.","authors":"Aseel Abuhammad, Maram Albandak, Mohammed Ayyad, Arein Madia, Osama N Dukmak, Laith Alamleh","doi":"10.1177/23247096241267146","DOIUrl":"10.1177/23247096241267146","url":null,"abstract":"<p><p>Granulomatous mastitis (GM) is a long-term inflammatory disease of the breast that usually occurs in women of reproductive age. Autoimmune mastitis is one of the most common pathological breast conditions necessitating tailored treatment. However, GM as a first clinical manifestation of sarcoidosis is uncommon. Simultaneous occurrence of GM, erythema nodosum (EN), and arthritis, termed \"GMENA\" syndrome, is a rare clinical entity associated with autoimmune rheumatic diseases. Herein, we report the case of a 31-year-old female patient with GMENA syndrome, who presented with a painful nodule of the left breast. Initial treatment entailed antibiotics under the presumption of a breast abscess, yielding negligible improvement. During this period, the patient developed polyarthritis and bilateral EN on the lower extremities. Histopathologic examination of the breast tissue exhibited noncaseating granulomas. The patient responded positively to prednisolone and methotrexate treatment. Literature review revealed a coherent pattern across GMENA cases. Our findings suggest that the \"GMENA\" syndrome represents a unique acute manifestation of sarcoidosis and highlight the necessity for heightened awareness, accurate diagnosis, and tailored therapeutic approaches for GMENA syndrome. Further research is warranted to elucidate its cause and optimize patient management. This case highlights the importance of identifying and effectively managing such interrelated clinical presentations.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11284773/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141788344","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}
Lefika Bathobakae, Rammy Bashir, Dhruv Patel, Tyler Wilkinson, Nader Mekheal, Gabriel Melki, Yana Cavanagh, Walid Baddoura
{"title":"A View in the Dark: Two Cases of Acute Esophageal Necrosis in the Setting of Diabetic Ketoacidosis.","authors":"Lefika Bathobakae, Rammy Bashir, Dhruv Patel, Tyler Wilkinson, Nader Mekheal, Gabriel Melki, Yana Cavanagh, Walid Baddoura","doi":"10.1177/23247096241269864","DOIUrl":"10.1177/23247096241269864","url":null,"abstract":"<p><p>Acute esophageal necrosis (AEN), also known as Gurvits syndrome, is a rare and potentially life-threatening condition characterized by necrosis of the esophageal mucosa. Acute esophageal necrosis is often associated with critical conditions, such as myocardial infarction, diabetic ketoacidosis (DKA), coronavirus disease 2019 (COVID-19) infection, or post-surgical complications. Patients typically present with nausea, hematemesis, acute dysphagia, and melena. Given its high mortality rate, prompt detection with upper endoscopy and early initiation of treatment are crucial. Most cases of Gurvits syndrome are managed conservatively using intravenous fluids, proton pump inhibitors, and antibiotics. Herein, we present a case series of AEN in the setting of DKA. Both patients received supportive care and were discharged in a stable condition.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11304478/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141897574","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}
Yousef Ansara, Amanda Siniora, Laith Ayasa, Mustafa Nabilsi, Tareq Hindi
{"title":"Primary Polydipsia in a Toddler: A Rare Case.","authors":"Yousef Ansara, Amanda Siniora, Laith Ayasa, Mustafa Nabilsi, Tareq Hindi","doi":"10.1177/23247096241278404","DOIUrl":"10.1177/23247096241278404","url":null,"abstract":"<p><p>Primary polydipsia (PP) is a rare but significant clinical entity in pediatric patients. Here, we present the case of a 16-month-old female referred to our center due to recurrent episodes of electrolyte imbalances. Initially admitted for management of a viral illness, she experienced unexplained electrolyte disturbances, prompting subsequent admissions marked by similar disruptions. Despite stabilization and discharge, her condition persisted. Pre-referral laboratory findings revealed significant electrolyte abnormalities alongside polyuria symptoms. Investigations unveiled a history of frequent heavy wet diapers and increased thirst. Further tests including a water deprivation test excluded diabetes insipidus. Following the restriction of water intake and careful monitoring, her condition markedly improved. This case emphasizes the importance of thorough evaluation in persistent electrolyte imbalances in toddlers, highlighting the role of polyuria as a contributing factor and the efficacy of targeted interventions in managing such cases.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11440527/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289261","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}
Rupam Sharma, Elika Salimi, Carlos D'Assumpcao, Michael Valdez, Akriti Chaudhry, Arash Heidari, Rasha Kuran, Janpreet Bhandohal
{"title":"Catastrophic Case of West Nile Virus Rhombencephalitis in AIDS.","authors":"Rupam Sharma, Elika Salimi, Carlos D'Assumpcao, Michael Valdez, Akriti Chaudhry, Arash Heidari, Rasha Kuran, Janpreet Bhandohal","doi":"10.1177/23247096241267132","DOIUrl":"10.1177/23247096241267132","url":null,"abstract":"<p><p>West Nile Virus (WNV) belongs to the Flaviviridae family of viruses. It was first isolated and identified in 1937. Patients typically present with flu-like symptoms or are asymptomatic; however, neuroinvasive West Nile can lead to significant neurological impairment. Herein presented is a catastrophic case of WNV rhombencephalitis in a male patient newly diagnosed with AIDS. This report sheds light on the potential for severe neurological complications in co-infected patients and emphasizes the importance of early recognition.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11289818/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141792648","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}
Ibrahim Tawhari, Samantha Saggese, Shatha S Alshahrani, Ghufran Asiri, Shatha A Alshahrani, Sarah Summan, Yousef Y Al Qasim, Yahya A Al Majbar
{"title":"Peritoneal Dialysis-Associated Peritonitis Caused by <i>Achromobacter xylosoxidans</i>: A Case Report and Literature Review.","authors":"Ibrahim Tawhari, Samantha Saggese, Shatha S Alshahrani, Ghufran Asiri, Shatha A Alshahrani, Sarah Summan, Yousef Y Al Qasim, Yahya A Al Majbar","doi":"10.1177/23247096231220467","DOIUrl":"10.1177/23247096231220467","url":null,"abstract":"<p><p><i>Achromobacter xylosoxidans</i> is a gram-negative bacterium that is responsible for rare peritonitis associated with peritoneal dialysis (PD). We present a case of a 64-year-old woman with a medical history of end-stage renal disease undergoing PD who was admitted to the emergency department with abdominal pain and nausea. Physical examination and laboratory studies revealed peritoneal signs and laboratory abnormalities consistent with peritonitis. Intraperitoneal catheter dysfunction was identified and subsequently resolved via laparoscopy. Following a peritoneal fluid culture, <i>A xylosoxidans</i> was identified, leading to the initiation of intraperitoneal meropenem treatment. After an initial improvement, the patient developed an ileus and recurrent abdominal symptoms, and further peritoneal cultures remained positive for <i>A xylosoxidans</i>. Subsequent treatment included intravenous meropenem and vancomycin for Clostridium difficile colitis. Owing to the high likelihood of biofilm formation on the PD catheter by <i>A xylosoxidans</i>, the catheter was removed, and the patient transitioned to hemodialysis. Intravenous meropenem was continued for 2 weeks post-catheter removal. This case highlights the challenges in managing recurrent peritonitis in PD patients caused by multidrug-resistant <i>A xylosoxidans</i>. A high index of suspicion, appropriate microbiological identification, and targeted intraperitoneal and systemic antibiotic treatment, along with catheter management, are crucial in achieving a favorable outcome in such cases.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10762871/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139074328","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}
Divisha Sharma, Zoheb I Sulaiman, Patrick J Tu, Sean Harrell, Stuart Cavalieri, Peter J Skidmore, Stephanie L Baer
{"title":"A Case of Infective Endocarditis Caused by <i>Citrobacter koseri</i>: Unraveling a Rare Pathogen and Dire Outcome.","authors":"Divisha Sharma, Zoheb I Sulaiman, Patrick J Tu, Sean Harrell, Stuart Cavalieri, Peter J Skidmore, Stephanie L Baer","doi":"10.1177/23247096241239544","DOIUrl":"10.1177/23247096241239544","url":null,"abstract":"<p><p><i>Citrobacter koseri</i> (formerly classified as <i>Citrobacter diversus</i>) is a gram-negative bacillus (GNB) that occurs as an opportunistic pathogen in neonates and immunocompromised patients. <i>Citrobacter</i> species have been implicated in nosocomial settings leading to infections involving the urinary tract, respiratory tract, liver, biliary tract, meninges, and even in rarer conditions-blood stream infection and infective endocarditis (IE). Gram-negative bacilli are responsible for 3% to 4% of all IE cases and have been traditionally associated with intravenous drug users. Patients with non-HACEK (species other than <i>Haemophilus</i> species, <i>Actinobacillus actinomycetemcomitans, Cardiobacterium hominis, Eikenella corrodens, or Kinglella</i> species) GNB IE have poor clinical outcomes with higher rates of in-hospital mortality and complications. The American Heart Association (AHA) and Infectious Diseases Society of America (IDSA) both recommend the use of combination antibiotic therapy with a beta-lactam (penicillins, cephalosporins, or carbapenems) and either an aminoglycoside or fluoroquinolones for 6 weeks (about 1 and a half months) to treat IE due to non-HACEK GNB. <i>Citrobacter koseri</i> is becoming more recognized due to its inherent resistance to ampicillin and emerging drug resistance to beta lactams and aminoglycosides requiring carbapenem therapy. Our case is of a 75-year-old male with no previously reported history of primary or secondary immunodeficiency disorders who developed <i>C koseri</i> blood stream infection. His infectious work-up revealed mitral valve IE and septic cerebral emboli resulting in ischemic infarcts. This case illustrates the importance of recognizing GNB organisms as rising human pathogens in IE cases even without active injection drug use or nosocomial exposure.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10996352/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140855472","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}
Kok Hoe Chan, Ningjing Li, Ran Lador, Mark Amsbaugh, Anneliese Gonzalez, Putao Cen
{"title":"Belzutifan, HIF-2α Inhibitor, and Clear Cell Renal Cell Carcinoma With Somatic Von-Hippel-Lindau Loss-of-Function Mutation.","authors":"Kok Hoe Chan, Ningjing Li, Ran Lador, Mark Amsbaugh, Anneliese Gonzalez, Putao Cen","doi":"10.1177/23247096241231641","DOIUrl":"10.1177/23247096241231641","url":null,"abstract":"<p><p>The Von-Hippel-Lindau (VHL) gene, acting as a tumor suppressor, plays a crucial role in the tumorigenesis of clear cell renal cell carcinoma (ccRCC). Approximately 90% of individuals with advanced ccRCC exhibit somatic mutations in the VHL gene. Belzutifan, orally administered small-molecule inhibitor of hypoxia-induced factor-2α, has demonstrated promising efficacy in solid tumors associated with germline loss-of-function mutations in VHL, including ccRCC. However, its impact on cases with somatic or sporadic VHL mutations remains unclear. Here, we present 2 cases where belzutifan monotherapy was employed in patients with advanced ccRCC and somatic loss-of-function mutations in VHL. Both patients exhibited a swift and sustained response, underscoring the potential role of belzutifan as a viable option in second or subsequent lines of therapy for individuals with somatic VHL mutations. Despite both patients experiencing a pulmonary crisis with respiratory compromise, their rapid response to belzutifan further emphasizes its potential utility in cases involving pulmonary or visceral crises. This report contributes valuable insights into the treatment landscape for advanced ccRCC with somatic VHL mutations.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10863383/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139722979","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}
Niloufar Ebrahimi, Maha Al Baghdadi, Craig W Zuppan, Daniel K Rogstad, Amir Abdipour
{"title":"AIDS-Associated BK Virus Nephropathy in Native Kidneys: A Case Report and Review of the Literature.","authors":"Niloufar Ebrahimi, Maha Al Baghdadi, Craig W Zuppan, Daniel K Rogstad, Amir Abdipour","doi":"10.1177/23247096241232202","DOIUrl":"10.1177/23247096241232202","url":null,"abstract":"<p><p>BK virus (BKV) is a small DNA virus, a member of the polyomavirus family, that causes an opportunistic infection in immunocompromised patients, especially kidney transplant patients. This virus establishes a lifelong infection in most of the population, and once it reactivates in an immunocompromised state, leads to BKV nephropathy. This review seeks to assess the correlation between severe immunosuppression, evident by low CD4 cell counts in HIV-positive patients, and the reactivation of BKV, causing nephropathy. A literature review was conducted, extracting, and analyzing case reports of HIV-positive patients showing correlations between their degree of immunosuppression, as evidenced by their CD4 counts, and the degree of BKV infectivity, confirmed by kidney biopsy. A total of 12 cases of BKV nephropathy in HIV-infected patients were reviewed. A common finding was the presence of profound immunosuppression, with most patients having CD4 counts ≤50 cells/ mm<sup>3</sup>. A substantial number also had comorbid malignancies, with some undergoing chemotherapy, potentially increasing the risk of BKV reactivation. In addition to the HIV status and malignancies, other risk factors for BKV reactivation included older age, male gender, diabetes mellitus, Caucasian race, and ureteral stent placement. BKV nephropathy in HIV patients with native kidneys is closely correlated with severe immunosuppression. Although therapeutic strategies exist for post-transplant patients, aside from the treatment of HIV with highly active anti-retroviral therapy (HAART), which potentially helps with clearing BKV by increasing CD4 count, there is no definitive treatment for a native kidney BKV nephropathy in patients with AIDS. The complexity of the cases and severity of comorbidities indicate the need for further research to develop therapeutic strategies tailored to this population.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10880537/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139905811","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":"Beware of the Acute Respiratory Distress Syndrome in a Pulmonary Blastomycosis!","authors":"Avinash Vangara, Dedeepya Gullapalli, Jayaram Krishna Depa, Sandhya Kolagatla, Muhammad Ali, Subramanya Shyam Ganti","doi":"10.1177/23247096241233042","DOIUrl":"10.1177/23247096241233042","url":null,"abstract":"<p><p><i>Blastomyces dermatitidis</i> is a dimorphic fungus that can range from mild to severe disease presentation, including the acute respiratory distress syndrome (ARDS) based on the individual's immunity. Acute respiratory distress syndrome is an uncommon presentation having an incidence of about 10% to 15% but has a high mortality exceeding 90%. This is a case of a 50-year-old female with past medical history of asthma and type 2 diabetes mellitus who presented to the pulmonology clinic with worsening dyspnea for the last 2 months. She also had a lesion in the left lower back, which was draining purulent fluid. Chest radiographs showed bilateral infiltrates and was started empirically on vancomycin and piperacillin-tazobactam. Bronchoalveolar lavage was done and the cultures grew <i>B dermatitidis.</i> The patient was moved to a higher level of care and given amphotericin B. Unfortunately, the patient experienced septic shock, which later deteriorated into cardiac arrest, ultimately leading to their passing. The importance of early diagnosis of blastomycosis and timely treatment has been emphasized in this case report.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10880536/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139905812","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}
Benjamin J McCormick, Daniel Zieman, Jason C Sluzevich, Muhamad Alhaj Moustafa
{"title":"Clinical Features of Cutaneous Paraneoplastic Syndromes in Hodgkin Lymphoma.","authors":"Benjamin J McCormick, Daniel Zieman, Jason C Sluzevich, Muhamad Alhaj Moustafa","doi":"10.1177/23247096241255840","DOIUrl":"10.1177/23247096241255840","url":null,"abstract":"<p><p>Cutaneous paraneoplastic syndromes due to Hodgkin lymphoma present with a wide spectrum of clinical manifestations from generalized pruritus to exfoliative erythroderma. We summarize the clinical findings and outcomes of 14 patients with Hodgkin lymphoma and associated cutaneous paraneoplastic syndromes treated at Mayo Clinic over the past 3 decades. Cutaneous paraneoplastic syndromes may be present at the time of lymphoma diagnosis, whereas in other patients, it may appear at the time of relapse, including patients with initial absence of cutaneous manifestations during the initial lymphoma presentation. Our results indicate that complete resolution of the paraneoplastic syndrome is associated with significantly improved overall survival. Recognition of cutaneous paraneoplastic syndromes is a crucial surrogate of relapsed malignancy and treatment requires targeting the underlying malignancy.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11107312/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141065687","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}