Journal of investigative medicine high impact case reports最新文献

{"title":"Complex MEFV and MVK Variations in a Syrian Child: Implications for Clinical Phenotypes and Treatment Response-A Case Report.","authors":"Alyamama Kousa, Reem Ahmed, Mohammad Baraa Abu Bakr, Alaa Nouri Aldosh, Basheer Khalil","doi":"10.1177/23247096241291929","DOIUrl":"10.1177/23247096241291929","url":null,"abstract":"<p><p>This case report presents a 10-year-old Syrian boy with concurrent mutations in the Mediterranean fever (<i>MEFV</i>) and mevalonate kinase (<i>MVK</i>) genes, resulting in overlapping symptoms of Familial Mediterranean Fever (FMF) and Hyperimmunoglobulinemia D syndrome (HIDS), both classified as Periodic Fever Syndromes (PFSs). The co-occurrence of these mutations within a single individual is highly unusual. He presented with pallor, intermittent fever, and recurrent respiratory infections from an early age, along with anemia, splenomegaly, hepatomegaly, cervical lymphadenopathy, and growth failure noted in initial investigations. Still's disease was initially considered as the most likely differential diagnosis, leading to the initiation of treatment with methylprednisolone; however, the parents did not follow-up with the treatment. The child returned at 5 years old with appendicitis, which was surgically removed, and parents reported recurrent episodes of arthralgia and joint swelling accompanied by nearly daily fever. Although the child experienced delayed motor development, his cognitive abilities were normal. Genetic analysis identified a homozygous likely pathogenic variant in the <i>MVK</i> gene and a heterozygous likely pathogenic variant in the <i>MEFV</i> gene. The child remains reliant on corticosteroids, with limited response to colchicine and improvement noted after transitioning from tocilizumab to infliximab. The latest follow-up demonstrated significant improvement with no fever, joint swelling, or lymphadenopathy; however, signs of growth failure persist. The atypical manifestations observed in this case may indicate a synergistic effect between the 2 mutations, contributing to the overall clinical picture. Therefore, although HIDS may dominate the clinical presentation, we cannot entirely dismiss the possibility that the FMF mutation plays a role in modulating these symptoms.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241291929"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11528672/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142467631","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":"Mature Cystic Teratoma of Anterior Mediastinum in a Child: A Case Report and Literature Review.","authors":"Anas M Barabrah, Basel Zaben, Anas R Tuqan, Omar Salah, Mohammad Hakam Shehadeh, Hasan Eideh, Wael Amro","doi":"10.1177/23247096241274510","DOIUrl":"10.1177/23247096241274510","url":null,"abstract":"<p><p>Mediastinal mature cystic teratomas are rare benign germ cell tumors that predominantly affect children. Despite their low incidence, they present unique diagnostic and management challenges. Early recognition and appropriate surgical intervention are crucial for optimal outcomes. This case report aims to highlight the importance of prompt diagnosis and management of mediastinal mature cystic teratomas in pediatric patients. We present the case of a 10-year-old female patient who presented with persistent chest pain and dyspnea. Imaging studies, including a chest X-ray and contrast-enhanced chest CT scan, revealed a large, well-circumscribed anterior mediastinal mass with calcifications. The patient underwent a right thoracotomy, resulting in the excision of a 6 × 5 × 5 cm mature cystic teratoma. Histopathological examination confirmed the diagnosis. The patient had an uneventful recovery and was discharged in stable condition. Mediastinal mature cystic teratomas pose diagnostic challenges due to their nonspecific symptoms and heterogeneous imaging characteristics. Differential diagnosis includes other mediastinal masses containing fat and calcifications. Surgical excision is the preferred treatment, although complete removal can be challenging due to adhesions to neighboring structures. Close follow-up is necessary to monitor for recurrence and complications. Mediastinal mature cystic teratomas are rare tumors with variable clinical presentations. Early detection and surgical intervention are crucial for optimal outcomes. These tumors should be included in the list of differential diagnoses for mediastinal masses in pediatric patients.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241274510"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11375665/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142125977","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":"Management of Severe Anemia in a Jehovah's Witness Patient With Lung Abscess Secondary to Malpositioned Laparoscopic Adjustable Gastric Band: A Case Report.","authors":"Nina Ruan, Chloe Shi, Zain Al-Momani, Fouad Jaber, Ramy Ghaly, David Wooldridge","doi":"10.1177/23247096241231649","DOIUrl":"10.1177/23247096241231649","url":null,"abstract":"<p><p>Jehovah's Witnesses is a Christian denomination widely recognized for their steadfast refusal of blood transfusions, even when facing severe anemia. We describe a unique case of a 42-year-old Jehovah's Witness woman with severe iron deficiency anemia. She necessitated surgical correction of a malpositioned gastric band within the context of a complex necrotizing aspiration pneumonia secondary to esophageal obstruction. Medical management of this severe anemia has been a challenge as traditional approaches, like a blood transfusion, are not possible. Instead, a multifaceted approach has been described with intravenous iron infusions, recombinant human erythropoietin, vitamin B₁₂, folate, and vitamin C administration. We emphasize the lack of consensus on guideline protocols regarding management of severe anemia for Jehovah's Witness patients and the subsequent need for more investigation into that matter. It also underscores the significance of respecting patient autonomy through close collaboration between patients and their health care providers to ensure effective patient-centered care.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241231649"},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10868478/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139729739","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":"Isolated Cutaneous Chronic Lymphocytic Leukemia: A Case Report.","authors":"Zahra Kmira, Ben Ismail Hajer, Mokni Sana, Ben Sayed Nesrine, Guermazi Monia, Tabka Meriem, Chiba Dorra, Bouteraa Walid, Zaier Monia, Sriha Badreddine, Ben Youssef Yosra, Regaieg Haifa, Khelif Abderrahim","doi":"10.1177/23247096231204736","DOIUrl":"10.1177/23247096231204736","url":null,"abstract":"<p><p>Skin lesions in chronic lymphocytic leukemia (CLL) have been reported in between 4% and 20% of patients with CLL and are a rare entity compared with T-cell leukemia. They can present mainly as leukemic cutis or, frequently, as secondary lesions such like urticaria, itching, pyoderma gangrenosum, cutaneous vasculitis, Sweet's syndrome, and erythroderma. We report on an adult patient who developed a skin lesion of forearms and hands, leading to the discovery of isolated cutaneous CLL after two biopsies. Isolated CLL cutaneous location is very rare and may be diagnosed late, as in the case of our patient. A better knowledge of the course of the illness and rapid diagnosis of this CLL cutis leukemia will enhance the therapeutic efficacy of the disease.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096231204736"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11141222/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141175672","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":"Atypical Presentation of Ziprasidone-Induced Neuroleptic Malignant Syndrome: A Case Report.","authors":"John Allonce, Sikandar Khan, Brian Pulford","doi":"10.1177/23247096241262690","DOIUrl":"10.1177/23247096241262690","url":null,"abstract":"<p><p>Neuroleptic malignant syndrome (NMS) is a severe adverse reaction associated with neuroleptic or antipsychotic drugs. This case report discusses a 43-year-old man with a history of bipolar disorder and polysubstance abuse who presented with altered mental status, autonomic dysfunction, and muscular rigidity. The patient had recently started on ziprasidone, a second-generation antipsychotic, leading to an atypical presentation of NMS. Unlike classic findings associated with NMS induced by first-generation antipsychotics, this case lacked high fever, lead pipe rigidity, or elevated creatine kinase levels greater than 1000 on initial presentation. The delay in diagnosis was attributed to the milder symptoms and absence of typical findings, resulting in extensive diagnostic workup and interventions. The patient responded positively to treatment with lorazepam based on the Woodbury severity stage guidelines. This case underscores the complexity of diagnosing NMS induced by second-generation antipsychotics and highlights the need for awareness and tailored treatment approaches for atypical presentations.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241262690"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11268033/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141751874","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":"<i>Nocardia brasiliensis</i> Pyomyositis in an Immunocompetent Patient Following Gardening Activity.","authors":"Aliya Rehman, Ayoola Olayiwola, Christine A Vu, Parjanya Bhatt, Joelle-Ann Joseph, Folusakin Ayoade","doi":"10.1177/23247096241261508","DOIUrl":"10.1177/23247096241261508","url":null,"abstract":"<p><p>Nocardia pyomyositis in immunocompetent patients is a rare occurrence. The diagnosis may be missed or delayed with the risk of progressive infection and suboptimal or inappropriate treatment. We present the case of a 48-year-old immunocompetent firefighter diagnosed with pyomyositis caused by <i>Nocardia brasiliensis</i> acquired by direct skin inoculation from gardening activity. The patient developed a painful swelling on his right forearm that rapidly progressed proximally and deeper into the underlying muscle layer. Ultrasound imaging of his right forearm showed a 7-mm subcutaneous fluid collection with surrounding edema. Microbiologic analysis of the draining pus was confirmed to be <i>N brasiliensis</i> by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight (MALDI-TOF) Mass Spectrometry. After incision and drainage deep to the muscle layer to evacuate the abscess and a few ineffective antibiotic options, the patient was treated with intravenous ceftriaxone and oral linezolid for 6 weeks. He was then de-escalated to oral moxifloxacin for an additional 4 months to complete a total antibiotic treatment duration of 6 months. The wound healed satisfactorily and was completely closed by the fourth month of antibiotic therapy. Six months after discontinuation of antibiotics, the patient continued to do well with complete resolution of the infection. In this article, we discussed the risk factors for Nocardia in immunocompetent settings, the occupational risks for Nocardia in our index patient, and the challenges encountered with diagnosis and treatment. Nocardia should be included in the differential diagnosis of cutaneous infections, particularly if there is no improvement of \"cellulitis\" with traditional antimicrobial regimens and the infection extends into the deeper muscle tissues.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241261508"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11179496/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141321026","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":"Evolving Endoscopic Approaches to Pancreatic Pseudocysts and Walled-Off Necrosis: Case Series and Review of Evidence.","authors":"Shivangini Duggal, Lokesh Nagineni, Bhavi S Trivedi, Marc Zuckerman, Ricardo Badillo","doi":"10.1177/23247096241304521","DOIUrl":"10.1177/23247096241304521","url":null,"abstract":"<p><p>Imaging followed by endoscopic ultrasound (EUS)-guided therapy has become the preferred modality for treating pancreatic pseudocysts over surgical or radiological interventions. However, there continues to be a lack of consensus regarding the utility of endoscopic retrograde cholangiopancreatography (ERCP) before and after cyst drainage. We describe 4 cases of large pancreatic pseudocyst causing extrinsic biliary obstruction treated successfully with endoscopic cystogastrostomy decompression using a lumen-apposing self-expandable metal stent (LAMS) without ERCP. Endoscopic cystogastrostomy with LAMS was successful in all cases; none required ERCP. As endoscopic therapeutic systems continue to evolve, ERCP is becoming less essential to improve outcomes in patients with extrinsic biliary obstruction by pseudocysts and walled-off necrosis.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241304521"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11635886/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142807136","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":"Rare Pulmonary MALT Lymphomas and Its Differential Diagnosis On Chest CT.","authors":"Tongzhen Xu, Shulan Zhang, Fang Liu","doi":"10.1177/23247096241300918","DOIUrl":"10.1177/23247096241300918","url":null,"abstract":"<p><p>Pulmonary nodules caused by mucosa-associated lymphomas (MALT lymphomas) are uncommon, comprising for less than 0.5% of all primary lung tumors. While biopsy is the main method for diagnosing the disease, the significance of differential pulmonary diagnosis based on imaging is often overlooked. In this report, we present a case of a patient with multiple disseminated nodules in the lungs, as well as severe anemia and incidental involvement of multiple lymph nodes. We discuss the differential diagnosis of pulmonary MALT lymphomas on computed tomography (CT) images and emphasize the significance of considering this uncommon entity in the evaluation of pulmonary nodules.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241300918"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11650487/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142837260","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 Unknown Pulmonary Nodules.","authors":"Alex Crist, Gregory Heinicke, Jasper Xi Zheng, Hanine Inaty","doi":"10.1177/23247096241271895","DOIUrl":"10.1177/23247096241271895","url":null,"abstract":"<p><p>A 54-year-old female with history of underlying asthma and 10 pack-year smoking history was seen in interventional pulmonology clinic for evaluation of multiple scattered pulmonary nodules incidentally found on chest computed tomography (CT). Given the central location of the dominant left upper lobe (LUL) nodule and its proximity to an airway, bronchoscopic biopsy was felt to be the right approach. The IonTM Endoluminal System robotic-assisted navigational bronchoscope (Intuitive Surgical, Sunnyvale, California) was used to sample the LUL nodule under fluoroscopic guidance. Together with clinical and radiological findings, the histological and immunophenotypic findings are supportive for Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia (DIPNECH). The DIPNECH is a rare condition first described in a case series published in cancer in 1953. This highly atypical condition highlights the utility of modern navigational bronchoscopy in safely securing a diagnostic bronchoscopic biopsy in locations not previously reachable. This is especially relevant given the challenge and risk to percutaneous CT-guided biopsy. Complications are known to scale with depth from skin site, emphasizing benefits of the bronchoscopic approach in obese patients.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241271895"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489905/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142467628","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":"The Great Imitator: A Case of Lyme Carditis Mimicking ST Elevation Myocardial Infarction.","authors":"Sacide S Ozgur, Muhammad Adil Afzal, Dhruv Patel, Nida Ansari, Arielle Aiken, Yezin Shamoon, Rachel Abboud, Fayez Shamoon","doi":"10.1177/23247096241238528","DOIUrl":"10.1177/23247096241238528","url":null,"abstract":"<p><p>Lyme disease, caused by Borrelia burgdorferi and transmitted via Ixodes ticks, is a common vector-borne illness in the United States, with an estimated 476,000 annual cases. While primarily known for its neurological and rheumatological manifestations, Lyme disease can also involve the cardiac system, known as Lyme carditis, which occurs in about 4% to 10% of cases. This case report details a rare instance of Lyme carditis presenting as ST-segment elevation myocardial infarction (STEMI) in a 31-year-old female with no significant medical history. The patient exhibited symptoms of chest pressure and shortness of breath, with laboratory results showing significantly elevated troponin levels and other indicative markers. Notably, cardiac catheterization revealed no coronary occlusion, suggesting an alternative diagnosis to acute coronary syndrome (ACS). Further testing confirmed Lyme carditis through positive serological tests for Lyme-specific IgM antibodies. The case underscores the importance of considering Lyme myopericarditis in differential diagnoses for STEMI in Lyme-endemic areas and in patients without typical risk factors for coronary artery disease. This report aims to increase clinical awareness of this condition, highlighting the need for thorough investigation in atypical cardiac presentations.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241238528"},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10943721/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140140373","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}