Journal of Medical Case Reports最新文献

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Coinfection of Klebsiella pneumoniae and Aspergillus in a patient with chronic obstructive pulmonary disease post cardiac arrest: a case report 心搏骤停后慢性阻塞性肺病患者合并感染肺炎克雷伯氏菌和曲霉菌:病例报告
IF 1
Journal of Medical Case Reports Pub Date : 2024-09-13 DOI: 10.1186/s13256-024-04738-2
Inder Preet Singh Bhatia, Amulyajit Singh, Jayaraj Hasvi, Amit Rajan, Sri Krishna Venigalla
{"title":"Coinfection of Klebsiella pneumoniae and Aspergillus in a patient with chronic obstructive pulmonary disease post cardiac arrest: a case report","authors":"Inder Preet Singh Bhatia, Amulyajit Singh, Jayaraj Hasvi, Amit Rajan, Sri Krishna Venigalla","doi":"10.1186/s13256-024-04738-2","DOIUrl":"https://doi.org/10.1186/s13256-024-04738-2","url":null,"abstract":"Chronic obstructive pulmonary disease is a lung condition characterized by chronic respiratory symptoms (breathlessness, cough, and expectoration). In the advanced stages, patients often report to the Accident & Emergency department due to worsening of symptoms. Because of the repeated exposure to corticosteroids during the management of exacerbations, these patients are susceptible to super additional infections. Pulmonary aspergillosis can be divided into three main categories: invasive pulmonary aspergillosis, allergic bronchopulmonary aspergillosis and chronic pulmonary aspergillosis. Aspergillus overlap syndrome is defined as the presence of more than one form of Aspergillus in a single patient. However, coinfection with Klebsiella and pulmonary aspergillosis overlap syndrome is rare and poses a treatment challenge. As per a pub med search, no such case report has been reported in a case of chronic obstructive pulmonary disease. We report the case of a 66-year-old male, Punjabi Hindu by ethnicity, who was a reformed smoker with a known case of COPD. He presented with a history of breathlessness (mMRC grade 4) associated with cough with expectoration and wheezing for 15 days and intermittent episodes of hemoptysis for more than 6 months. The examination revealed tachypnea and wheezing throughout the lung fields. He was initially managed with parenteral steroids and frequent nebulization with bronchodilators. On day 5 of hospitalization, the patient experienced worsening of symptoms and cardiac arrest; he was intubated and return of spontaneous circulation was achieved within 5 minutes of cardio pulmonary resuscitation. Tracheal aspirate and culture revealed Aspergillus fumigatus and Klebsiella pneumoniae respectively. He underwent chest CT, which showed features suggestive of allergic bronchopulmonary aspergillosis and invasive pulmonary aspergillosis. He was found to have elevated β-d-glucan, galactomannan, and aspergillus IgE and IgG. Severe pneumonia and pulmonary Aspergillus overlap syndrome were managed with antibiotics, steroids, and antifungals. Over the next 15–20 days, his general condition improved. He was discharged after 45 days of hospitalization and continued on oral corticosteroids, antifungals, and inhaled bronchodilators. Coinfection with bacteria and fungi worsens the outcome. Clinicians should be aware of the polymicrobial manifestations and various drug interactions involved. Timely diagnosis aids in better management strategies and improved patient outcomes.","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142189288","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
Fungating synovial sarcoma at the posterior aspect of neck: a case report 颈后真菌性滑膜肉瘤:病例报告
IF 1
Journal of Medical Case Reports Pub Date : 2024-09-13 DOI: 10.1186/s13256-024-04747-1
Badaruddin Sahito, Sajjad Ahmed, Fahad Hanif Khan, Awais Abro, Jugdesh Kumar, Muhammad Waqas Khan, Malik Olatunde Oduoye
{"title":"Fungating synovial sarcoma at the posterior aspect of neck: a case report","authors":"Badaruddin Sahito, Sajjad Ahmed, Fahad Hanif Khan, Awais Abro, Jugdesh Kumar, Muhammad Waqas Khan, Malik Olatunde Oduoye","doi":"10.1186/s13256-024-04747-1","DOIUrl":"https://doi.org/10.1186/s13256-024-04747-1","url":null,"abstract":"In this report, we describe an uncommon instance of fungating synovial sarcoma affecting the posterior aspect of the neck. Although the existing literature has documented a limited number of cases, this particular case contributes to the knowledge about it, which is scarce. A total of 5 months before the examination, a Pakistani-Asian male, age 20 years, complained of a malodorous fungating swelling on the posterior aspect of his neck. An examination revealed a foul-smelling, 10 × 13 cm fungating enlargement surrounded by maggots and hemorrhaging at the site of the incision. A hemoglobin level of 6 and a total leukocyte count (TLC) of 23,000 indicated the patient’s disoriented and pallid appearance. He was expeditiously admitted, and preoperatively, the general well-being of the patient was optimized. After a comprehensive discussion with the medical team, a strategy for marginal excision and coverage with a latissimus dorsi (LD) flap and grafting was devised. The tumor was successfully excised, and an LD flap with graft was conducted on the patient during surgery; however, the infection caused the failure of half of the graft. Following that, the lesion was debrided, and re-grafting was performed. The patient was subsequently administered 5 cycles of chemotherapy and 32 cycles of radiotherapy. He was diagnosed with pulmonary metastasis 2 years later. Sadly, the patient died during a follow-up visit 3.5 years later. The patient’s unfavorable prognosis after surgical intervention, radiotherapy, and chemotherapy, despite undergoing all-encompassing treatments, underscores the importance of early detection and intervention in fungating tumor cases.","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142189350","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
Myocardial infarction with non-obstructive coronary arteries in a young seropositive woman with human immunodeficiency virus: a case report and review of the literature 人类免疫缺陷病毒血清反应呈阳性的年轻女性冠状动脉非阻塞性心肌梗死:病例报告和文献综述
IF 1
Journal of Medical Case Reports Pub Date : 2024-09-13 DOI: 10.1186/s13256-024-04776-w
Meriem Boumaaz, Raid Faraj, Ahmed Reggad, Zouhair Lakhal, Iliyasse Asfalou
{"title":"Myocardial infarction with non-obstructive coronary arteries in a young seropositive woman with human immunodeficiency virus: a case report and review of the literature","authors":"Meriem Boumaaz, Raid Faraj, Ahmed Reggad, Zouhair Lakhal, Iliyasse Asfalou","doi":"10.1186/s13256-024-04776-w","DOIUrl":"https://doi.org/10.1186/s13256-024-04776-w","url":null,"abstract":"Elevated susceptibility to acute myocardial infarction and various cardiovascular diseases has been observed in individuals infected with the human immunodeficiency virus compared with the uninfected population, as demonstrated in numerous studies. The precise mechanism by which human immunodeficiency virus infection heightens the risk of acute myocardial infarction remains elusive. The manifestation of acute coronary syndrome in young patients with human immunodeficiency virus may deviate from the typical, displaying distinct pathophysiological and clinical characteristics. The occurrence of myocardial infarction with non-obstructive coronary arteries in young patients with human immunodeficiency virus poses diagnostic and treatment challenges. We present the case of a 46-year-old African woman with no traditional atherosclerotic risk factors. She was diagnosed with human immunodeficiency virus-1 infection 2 years prior to her current admission for chest pain. Her troponin levels were elevated, suggestive of acute coronary syndrome. Although coronary angiography ruled out coronary artery stenosis, it revealed mild myocardial bridging in the left anterior descending artery. Cardiac magnetic resonance imaging confirmed myocardial infarction, indicating a myocardial infarction with non-obstructive coronary arteries with an apical thrombus in the left ventricle. Following medical treatment, the patient experienced resolution of chest pain and improvement in ST-segment elevation. In young female patients without traditional risk factors, human immunodeficiency virus infection is a possible etiological factor for myocardial infarction with non-obstructive coronary arteries. The likely pathophysiological pathway is superficial endothelial cell denudation as a result of chronic inflammation and immune activation.","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142189287","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
Spontaneous rupture and hemorrhage of renal epithelioid angiomyolipoma misdiagnosed to renal carcinoma: a case report 被误诊为肾癌的肾上皮样血管瘤自发性破裂和出血:病例报告
IF 1
Journal of Medical Case Reports Pub Date : 2024-09-12 DOI: 10.1186/s13256-024-04743-5
Wenhao Zhang, Xiaodong Jin, Chundan Wang, Shaobo Jiang, Jiasheng Yan, Yubing Li
{"title":"Spontaneous rupture and hemorrhage of renal epithelioid angiomyolipoma misdiagnosed to renal carcinoma: a case report","authors":"Wenhao Zhang, Xiaodong Jin, Chundan Wang, Shaobo Jiang, Jiasheng Yan, Yubing Li","doi":"10.1186/s13256-024-04743-5","DOIUrl":"https://doi.org/10.1186/s13256-024-04743-5","url":null,"abstract":"Renal epithelioid angiomyolipoma is a rare and unique subtype of classic angiomyolipoma, characterized by the presence of epithelioid cells. It often presents with nonspecific symptoms and can be easily misdiagnosed due to its similarity to renal cell carcinoma and classic angiomyolipoma in clinical and radiological features. This case report is significant for its demonstration of the challenges in diagnosing epithelioid angiomyolipoma and its emphasis on the importance of accurate differentiation from renal cell carcinoma and classic angiomyolipoma. A 58-year-old Asian female presented with sudden left flank pain and was initially diagnosed with a malignant renal tumor based on imaging studies. She underwent laparoscopic radical nephrectomy, and postoperative histopathology confirmed the diagnosis of epithelioid angiomyolipoma. The patient recovered well and is currently in good health with regular follow-ups. This case highlights the diagnostic challenges, with a focus on the clinical, radiological, and histopathological features that eventually led to the identification of epithelioid angiomyolipoma. Epithelioid angiomyolipoma is easily misdiagnosed in clinical work. When dealing with these patients, it is necessary to make a comprehensive diagnosis based on clinical symptoms, imaging manifestations, and pathological characteristics.","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142189289","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
Ibrutinib as treatment for Bing–Neel syndrome reclassified as glioblastoma: a case report 伊布替尼治疗被重新归类为胶质母细胞瘤的Bing-Neel综合征:病例报告
IF 1
Journal of Medical Case Reports Pub Date : 2024-09-11 DOI: 10.1186/s13256-024-04757-z
Charlotte Dahl Gravesen, Imanl Chanchiri, Ida Bruun Kristensen, Martin Bang Jensen, Frederik Severin Gråe Harbo, Rikke Hedegaard Dahlrot
{"title":"Ibrutinib as treatment for Bing–Neel syndrome reclassified as glioblastoma: a case report","authors":"Charlotte Dahl Gravesen, Imanl Chanchiri, Ida Bruun Kristensen, Martin Bang Jensen, Frederik Severin Gråe Harbo, Rikke Hedegaard Dahlrot","doi":"10.1186/s13256-024-04757-z","DOIUrl":"https://doi.org/10.1186/s13256-024-04757-z","url":null,"abstract":"Glioblastoma is a highly malignant disease with limited treatment options. Ibrutinib, a covalent Bruton tyrosine kinase inhibitor, is an oral agent with manageable side effects used for hematological diseases including Waldenström macroglobulinemia. We present the case of a 69-year-old Caucasian male patient treated with ibrutinib for suspected Bing–Neel syndrome (BNS), which following a biopsy, was reclassified as glioblastoma. In December 2018, a 69-year-old Caucasian male patient was diagnosed with Waldenström macroglobulinemia. As the patient was asymptomatic, without bone marrow failure or high M-component count, watchful waiting was initiated. Due to increasing neurological symptoms, the patient, based on magnetic resonance imaging, was diagnosed with Bing–Neel syndrome in May 2019. The patient received different treatments before starting ibrutinib monotherapy in August 2019 due to disease progression, both on magnetic resonance imaging and clinically. The patient remained clinically stable for 7 months. In March 2020, the patient developed headaches, and both magnetic resonance imaging and a biopsy revealed glioblastoma IDH-wildtype. Treatment was changed in line with the new diagnosis, but the patient died at the end of 2020. We present a case in which a patient with glioblastoma IDH-wildtype remained clinically stable for 7 months when treated with ibrutinib monotherapy, which is similar to what would be expected for the standard treatment for glioblastoma. To our knowledge, this is the first patient receiving ibrutinib for a glioblastoma IDH-wildtype with a meaningful clinical outcome. Our case may therefore support previous nonclinical findings, indicating a therapeutic value of ibrutinib in patients with glioblastoma and support for further investigation of ibrutinib as a possible treatment for glioblastoma.","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142189330","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
Rapid-onset methemoglobinemia from traditional-medicine-induced potassium nitrate poisoning: successful treatment with methylene blue—a case report 传统药物引起的硝酸钾中毒导致的速发型高铁血红蛋白血症:亚甲蓝的成功治疗--病例报告
IF 1
Journal of Medical Case Reports Pub Date : 2024-09-11 DOI: 10.1186/s13256-024-04702-0
Salman Kazmi, Humaira Farooqi, Ahmad Nawaz, Zubia Afzal, Aiman Idress, Mohammad Omar Yousafzai, Muhammad Usman Khan
{"title":"Rapid-onset methemoglobinemia from traditional-medicine-induced potassium nitrate poisoning: successful treatment with methylene blue—a case report","authors":"Salman Kazmi, Humaira Farooqi, Ahmad Nawaz, Zubia Afzal, Aiman Idress, Mohammad Omar Yousafzai, Muhammad Usman Khan","doi":"10.1186/s13256-024-04702-0","DOIUrl":"https://doi.org/10.1186/s13256-024-04702-0","url":null,"abstract":"Potassium nitrate poisoning is a rare but potentially serious condition that can result in methemoglobinemia and subsequent cyanosis. This case report presents a unique instance of rapid-onset methemoglobinemia resulting from the ingestion of a traditional medicine preparation containing potassium nitrate, known as “kalmi shora.” A 14-year-old Pakistani boy reported to the emergency department with a history of sudden-onset headache, drowsiness agitation, irritability, and generalized cyanosis. Pulse oximetry showed a concerning oxygen saturation level of 58%, whereas arterial blood gas analysis revealed a normal partial pressure of oxygen (90 mmHg). The profile of abrupt onset of symptoms, generalized cyanosis, and the discrepancy between the partial pressure of oxygen and oxygen saturation readings necessitated a comprehensive assessment including inquiries into potential toxins. The peculiar appearance of the blood, resembling chocolate in color, further indicated the possibility of methemoglobinemia. The patient was successfully treated with methylene blue, leading to a prompt resolution of symptoms. This case highlights the significance of considering toxin exposures, such as traditional-medicine-induced poisoning, in emergency settings. The report contributes to the medical literature by highlighting the potential risks associated with traditional remedies and emphasizes the critical role of prompt diagnosis and intervention in optimizing patient outcomes. Recognition of the specific etiology of methemoglobinemia, in this case, traditional medicine ingestion, is essential for effective management in emergency medicine.","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142189290","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
Visceral leishmaniasis complicated with hemophagocytic lymphohistiocytosis and resistant to amphotericin B: a case report 内脏利什曼病并发嗜血细胞淋巴组织细胞增多症,对两性霉素 B 耐药:病例报告
IF 1
Journal of Medical Case Reports Pub Date : 2024-09-10 DOI: 10.1186/s13256-024-04760-4
Muhamad Zakaria Brimo Alsaman, Fares Abu Sultan, Yazan Ramadan, Khaled Arnaout, Mohamad Shahrour, Bilal Barakat, Abeer Dayeh
{"title":"Visceral leishmaniasis complicated with hemophagocytic lymphohistiocytosis and resistant to amphotericin B: a case report","authors":"Muhamad Zakaria Brimo Alsaman, Fares Abu Sultan, Yazan Ramadan, Khaled Arnaout, Mohamad Shahrour, Bilal Barakat, Abeer Dayeh","doi":"10.1186/s13256-024-04760-4","DOIUrl":"https://doi.org/10.1186/s13256-024-04760-4","url":null,"abstract":"Hemophagocytic lymphohistiocytosis characterized by hemophagocytosis leading to uncontrolled inflammation; the most common etiology in secondary cases of hemophagocytic lymphohistiocytosis is viral infections, especially Epstein–Barr virus. Visceral leishmaniasis is a vectorborne protozoal disease caused by Leishmania donovani complex. It is common in tropical and subtropical regions, with 50,000–90,000 new cases annually. A 15-month-old Arab female was admitted to our hospital with 15 days of fever and decreased weight. On clinical examination, she had a markedly enlarged liver and spleen that were palpable 4 cm and 6 cm below the costal margin, respectively. The peripheral blood smear showed hypochromic microcytic anemia, poikilocytosis, reactive lymphocytosis, and mild thrombocytopenia. Bone marrow aspiration did not show malignancy or any other pathological findings. The patient was put on antibiotic therapy without improvement. Repeated bone marrow aspiration showed erythrophagocytosis; intracellular small round organisms looked like the amastigote form of Leishmania (Donovan bodies) with no evidence of malignancies. Her lab values showed ferritin greater than 500 ug/L, pancytopenia, and hypertriglyceridemia. The patient was diagnosed with hemophagocytic lymphohistiocytosis secondary to visceral leishmaniasis. Hemophagocytic lymphohistiocytosis secondary to visceral leishmaniasis is an extensively rare phenomenon in the medical literature that causes challenges in diagnosis and management. Steroids should be used wisely to not cover the symptoms of infections or malignancy, and amphotericin B resistance should be kept in mind in unresponsive Leishmania cases.","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142189291","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
Traumatic encephalocele in the nasal cavity after 6 years of trauma: a case report. 外伤 6 年后的鼻腔外伤性脑积水:病例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-09-09 DOI: 10.1186/s13256-024-04735-5
Kenana Tawashi, Ayham Qatza, Ahmed Sheikh Sobeh, Nizar Sheekh Ahmad
{"title":"Traumatic encephalocele in the nasal cavity after 6 years of trauma: a case report.","authors":"Kenana Tawashi, Ayham Qatza, Ahmed Sheikh Sobeh, Nizar Sheekh Ahmad","doi":"10.1186/s13256-024-04735-5","DOIUrl":"https://doi.org/10.1186/s13256-024-04735-5","url":null,"abstract":"<p><strong>Background: </strong>Encephalocele refers to protrusion of the meninges and brain tissue through a skull bone defect. It results from congenital, traumatic, neoplastic, or spontaneous reasons. Traumatic encephalocele occurs because of the posttraumatic fracture of the skull bone or iatrogenic causes. The manifestations vary a lot, such as rhinorrhea, seizures, headaches, and focal neurological deficits.</p><p><strong>Case presentation: </strong>A 20-year-old Syrian male presented to our department with the complaint of clear cerebrospinal fluid drainage from his right nostril, which started 6 years ago after a head trauma, moderate headache, and episodes of tonic-clonic seizures without any response to medical treatment. Then, 2 months ago, the patient had meningoencephalitis, so he was admitted to the intensive care unit and treated for a month until he was cured. The patient underwent radiological investigations, which showed that he had a base fracture with an encephalocele in the nasal cavity. The brain tissues with the meninges herniated through the skull base fracture with a significant expansion of the subarachnoid spaces in the right hemisphere. He was advised to undergo surgical repair at that time, but he refused the surgery. During this visit, surgery was indicated. The surgery was done by a specialist who returned the herniated brain tissues to their normal location, repaired the meninges, and reconstructed the skull base with bone cement and bio-glue. The patient's recovery after the surgery was uneventful.</p><p><strong>Conclusion: </strong>Traumatic encephalocele is a rare and unexpected complication of trauma, but we should keep it in mind when the patient comes with head trauma because of its life-threatening consequences. This complication can happen after years of trauma if the patient refuses treatment, therefore, we must educate patients about the dangerous results of neglecting cerebrospinal fluid leakage and skull fractures.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142154287","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
Familial adenomatous polyposis: a case report. 家族性腺瘤性息肉病:病例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-09-08 DOI: 10.1186/s13256-024-04724-8
Endeshaw Asaye Kindie, Tigist Desta Beyera, Ephrem Tafesse Teferi, Daniel Zemenfes Ashebir, Henok Bahru Wodajeneh
{"title":"Familial adenomatous polyposis: a case report.","authors":"Endeshaw Asaye Kindie, Tigist Desta Beyera, Ephrem Tafesse Teferi, Daniel Zemenfes Ashebir, Henok Bahru Wodajeneh","doi":"10.1186/s13256-024-04724-8","DOIUrl":"https://doi.org/10.1186/s13256-024-04724-8","url":null,"abstract":"<p><strong>Background: </strong>Familial adenomatous polyposis is characterized by the presence of multiple colorectal adenomatous polyps and caused by germline mutations in the tumor suppressor gene and adenomatous polyposis coli, located on chromosome 5q21-q22. Familial adenomatous polyposis occurs in approximately 1/10,000 to 1/30,000 live births, and accounts for less than 1% of all colorectal cancers in the USA. It affects both sexes equally and has a worldwide distribution. The incidence of colon cancer in low- and middle-income countries is rising. In addition to the increasing incidence, lack of early detection and impeded access to optimal multidisciplinary treatment may worsen survival outcomes. Developing quality diagnostic services in the proper health context is crucial for early diagnosis and successful therapy of patients with colorectal cancer, and applying a resource-sensitive approach to prioritize essential treatments on the basis of effectiveness and cost-effectiveness is key to overcoming barriers in low- and middle-income countries. We report a case of familial adenomatous polyposis presenting as adenocarcinoma with multiple colorectal adenomatous polyps. The diagnosis of familial adenomatous polyposis was made by the presence of numerous colorectal adenomatous polyps and family history of colonic adenocarcinoma. Due to its rarity, we decided to report it.</p><p><strong>Case presentation: </strong>A 22-year-old Ethiopian female patient presented to Addis Ababa University College of Health science, Addis Ababa, Ethiopia with rectal bleeding. Abdominopelvic computed tomography scan was done and showed distal rectal asymmetric anterior wall thickening in keeping with rectal tumor. Colonoscopy was done and she was diagnosed to have familial adenomatous polyposis with severe dysplasia. In the meantime, colonoscopy guided biopsy was taken and the diagnosis of adenocarcinoma with familial adenomatous polyposis was rendered. For this, total proctocolectomy was carried out. On laparotomy there was also incidental finding of left ovarian deposition for which left salpingo-oophorectomy was done, and 4 weeks after surgical resection, the patient was started on oxaliplatin, leucovorin, fluorouracil chemotherapy regimen.</p><p><strong>Conclusion: </strong>In the clinical evaluation of a patient with rectal bleeding, familial adenomatous polyposis must be considered as a differential diagnosis in subjects having family history of colonic adenocarcinoma for early diagnostic workup, management, family genetic counseling, and testing.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142145795","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
Preserving insulin function in diabetes: a case report. 保留糖尿病患者的胰岛素功能:病例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-09-07 DOI: 10.1186/s13256-024-04714-w
Masaru Oota
{"title":"Preserving insulin function in diabetes: a case report.","authors":"Masaru Oota","doi":"10.1186/s13256-024-04714-w","DOIUrl":"10.1186/s13256-024-04714-w","url":null,"abstract":"<p><strong>Background: </strong>This case report explores the long-term dynamics of insulin secretion and glycemic control in two patients with diabetes mellitus type 2 over 20 years. The observations underscore the impact of lifestyle interventions, including weight loss and calorie restriction, on insulin secretion patterns and glucose levels during 75 g oral glucose tolerance tests. Additionally, the role of hemoglobin A1c fluctuations, influenced by various factors such as body weight, exercise, and pharmacological interventions, is investigated.</p><p><strong>Case presentation: </strong>Case 1 involves a Japanese woman now in her late 70s who successfully maintained her hemoglobin A1c below 7% for over two decades through sustained weight loss and lifestyle changes. Despite a gradual decline in the homeostasis model assessment of β cell function, the patient exhibited remarkable preservation of insulin secretion patterns over the 20-year follow-up. In case 2, a Japanese woman, now in her early 70s, experienced an improvement in hemoglobin A1c to 6.3% after a period of calorie limitation due to a wrist fracture in 2018. This incident seemed to trigger a temporary rescue of pancreatic β cell function, emphasizing the dynamic nature of insulin secretion. Both cases highlight the potential for pancreatic β cell rescue and underscore the persistence of insulin secretion over the 20-year follow-up. Additionally, we have briefly discussed three additional cases with follow-ups ranging from 10 to 17 years, demonstrating similar trends in glucose and insulin ratios.</p><p><strong>Conclusions: </strong>Long-term lifestyle interventions, such as weight loss and calorie restriction, can preserve pancreatic β cell function and maintain glycemic control in type 2 diabetes patients over 20 years. Two patients showed stable or improved insulin secretion and favorable hemoglobin A1c levels, challenging the traditional view of irreversible β cell decline. The findings highlight the importance of personalized, nonpharmacological approaches, suggesting that sustained lifestyle changes can significantly impact diabetes management and potentially rescue β cell function.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11380200/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142145797","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}
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