Journal of investigative medicine high impact case reports最新文献_第2页

A Case of Pulmonary Sarcoidosis With Multiple Endobronchial Polypoid Structures and Partial Airway Obstruction.

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

Methimazole-Induced Cholestatic Jaundice: A Rare Case and Literature Review.

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

Rising Into Relevance: A Rare Case of Saccharomyces cerevisiae Pyelonephritis in an Immunosuppressed Patient With Exposure to Sourdough Starter.

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

Novel SPAST Deletion Mutation in an American Family With Hereditary Spastic Paraplegia: A Case Report.

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

Unlocking the Mystery: Resident-Led POCUS Intervention in Community Hospital Revealing Pericardial Tamponade in a Complex Case.

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 DOI: 10.1177/23247096241298172

Diana Othon-Martinez, Oscar J Lopez, Jessica Daza, Barbara X Malaga-Espinoza, Shakirat Ganiyu, Aramide Tijani

{"title":"Unlocking the Mystery: Resident-Led POCUS Intervention in Community Hospital Revealing Pericardial Tamponade in a Complex Case.","authors":"Diana Othon-Martinez, Oscar J Lopez, Jessica Daza, Barbara X Malaga-Espinoza, Shakirat Ganiyu, Aramide Tijani","doi":"10.1177/23247096241298172","DOIUrl":"10.1177/23247096241298172","url":null,"abstract":"Pericardial effusions, though relatively rare, can lead to life-threatening complications such as cardiac tamponade. While viral etiologies are common culprits, rapid and accurate diagnosis remains challenging. We present the case of a 74-year-old male with a history of upper respiratory infection who developed sudden onset dyspnea and chest discomfort. Bedside point-of-care ultrasound (POCUS) revealed a large pericardial effusion, prompting urgent intervention. Despite initially stable vital signs, the patient rapidly deteriorated, necessitating emergent pericardiocentesis. Laboratory findings and pathology results eventually ruled out common viral causes, guiding diagnosis toward coxsackieviruses A and B, echovirus, adenoviruses, or influenza. This case highlights the critical role of POCUS in resident-led community hospitals, in expediting the diagnosis of pericardial effusions and underscores the need for prompt intervention in cases of cardiac tamponade to prevent adverse outcomes.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096241298172"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11872050/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523689","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

Autoimmune Pulmonary Alveolar Proteinosis: A Rare Diagnosis in Pediatric Age.

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-03-14 DOI: 10.1177/23247096251323188

Inês Pais-Cunha, Augusta Gonçalves, Sara Paulino, José Fontoura Matias, Silva Sónia, Catarina Ferraz, Inês Azevedo

{"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":"https://doi.org/10.1177/23247096251323188","url":null,"abstract":"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.","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":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624945","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Refractory Vasospasm Presenting as Acute Myocardial Infarction.

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2025-01-01 Epub Date: 2025-03-14 DOI: 10.1177/23247096251325426

Nismat Javed, Emamuzo Obaro Otobo, Ankita Gore, Maulin Patel, Nisha Ali, Amandeep Singh, Nassim Krim, Preeti Jadhav

{"title":"Refractory Vasospasm Presenting as Acute Myocardial Infarction.","authors":"Nismat Javed, Emamuzo Obaro Otobo, Ankita Gore, Maulin Patel, Nisha Ali, Amandeep Singh, Nassim Krim, Preeti Jadhav","doi":"10.1177/23247096251325426","DOIUrl":"https://doi.org/10.1177/23247096251325426","url":null,"abstract":"Refractory coronary artery spasm is a challenging condition with many complications, including acute myocardial infarction. We present the case of an elderly woman who developed refractory coronary artery vasospasm requiring extensive hemodynamic support. She had an abnormal electrocardiogram. She was diagnosed with severe coronary artery vasospasm that initially responded to intracoronary nitroglycerin. However, the course was complicated by arrhythmias and cardiogenic shock following an additional episode of vasospasm that required higher concentrations of nitroglycerin. Notably, this case is relatively less documented in women and within the South Bronx population. Refractory coronary artery spasm is a critical condition that can lead to life-threatening outcomes. Prompt and effective treatment is essential, especially for high-risk patients, to prevent cardiac ischemia. Given the significant dangers of delayed or insufficient treatment, it is crucial to manage coronary artery spasms proactively to enhance patient outcomes and avoid severe complications. In addition, this diagnosis should be strongly considered in women, with an emphasis on following guidelines for managing cases of acute myocardial infarction.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251325426"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624965","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Granulomatous Polyangiitis Refractory to Induction With Rituximab in 3 Patients. 3名患者的肉芽肿性多血管炎对利妥昔单抗诱导治疗无效

IF 1.2

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096231215730

Nouran Eshak, Grace Ehikhueme, Malvika Ramesh, John Pixley

引用次数: 0

Anti-Tubular Basement Membrane Antibody Nephritis Manifesting in a Patient With Chronic Lymphocytic Leukemia: A Very Rare Case Report. 慢性淋巴细胞白血病患者出现的抗小管基底膜抗体肾炎：非常罕见的病例报告

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241281612

Niloufar Ebrahimi, Behzad Najafian, Yan Chen Wongworawat, Sayna Norouzi, Amir Abdipour

引用次数: 0

Cocaine Gut: A Rare Case of Cocaine-Induced Esophageal, Gastric, and Small Bowel Necrosis. 可卡因肠：可卡因诱发食道、胃和小肠坏死的罕见病例。

IF 1.2

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241242569

Lefika Bathobakae, Sacide S Ozgur, Rammy Bashir, Tyler Wilkinson, Phenyo Phuu, Ruhin Yuridullah, Gabriel Melki, Jessica Escobar, Sohail Qayyum

{"title":"Cocaine Gut: A Rare Case of Cocaine-Induced Esophageal, Gastric, and Small Bowel Necrosis.","authors":"Lefika Bathobakae, Sacide S Ozgur, Rammy Bashir, Tyler Wilkinson, Phenyo Phuu, Ruhin Yuridullah, Gabriel Melki, Jessica Escobar, Sohail Qayyum","doi":"10.1177/23247096241242569","DOIUrl":"10.1177/23247096241242569","url":null,"abstract":"Cocaine is an indirect-acting sympathomimetic drug that inhibits norepinephrine and dopamine reuptake in the adrenergic presynaptic cleft. Cocaine use has been associated with strokes, angina, arrhythmias, and agitation. Data on gastrointestinal complications such as mesenteric ischemia, bowel necrosis, ulceration, and perforation are scarce. Here, we present a rare case of cocaine-induced esophageal, gastric, and small bowel necrosis that contributes to the limited literature on this subject. Diagnosis of cocaine-induced gastrointestinal complications involves a combination of imaging studies, laboratory assessments, and histopathological examinations. Timely surgical resection, supported by intravenous fluids, antibiotics, and pain management, is the mainstay of treatment. The prognosis varies but is significantly influenced by the promptness and effectiveness of the intervention, underscoring the importance of vigilant clinical care in such cases.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241242569"},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10981220/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140305905","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