Journal of medical cases最新文献

{"title":"Bilio-Cecal Stent Migration Presenting as Massive Rectal Bleeding.","authors":"Lefika Bathobakae, Shady Geris, Mohita Jariwala, Mansi Patel, Jessica Escobar, Ruhin Yuridullah, Kamal Amer, Yana Cavanagh","doi":"10.14740/jmc4262","DOIUrl":"https://doi.org/10.14740/jmc4262","url":null,"abstract":"<p><p>Endoscopic biliary stenting is a well-established intervention for the treatment of biliary, hepatic, and pancreatic disorders. The common indications include strictures, neoplasms, stones, infections, and bile leaks. Stents can be occluded, predisposing patients to ascending cholangitis and biliary sepsis. Distal stent migration is another known complication of endoscopic stenting and is usually spontaneous. Bowel perforation, abscesses, bleeding, and pancreatitis are rare complications of distal stent migration and are usually limited to the duodenum. Herein, we describe an extremely rare case of bilio-cecal stent migration presenting as rectal bleeding.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"15 9","pages":"227-230"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11349120/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142116821","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":"Clinical, Phenotypic and Molecular Characterization of <i>NUP214-ABL1</i> Fusion Positive Myeloid Malignancies.","authors":"Chelby Wakefield, Mary Hansen Smith, Ulyana Dashkevych, Maria Proytcheva, Sharad Khurana","doi":"10.14740/jmc4286","DOIUrl":"https://doi.org/10.14740/jmc4286","url":null,"abstract":"<p><p>The identification of a <i>NUP214-ABL1</i> fusion has been seen in about 6% of patients with T lymphoblastic leukemia (T-ALL). It has been described at a lower frequency in B-lymphoblastic leukemia (B-ALL) patients as well. To our knowledge, this is the first case report documenting a <i>NUP214-ABL1</i> fusion in a patient with newly diagnosed myelodysplastic syndrome (MDS) as identified by next-generation sequencing (NGS). A case report by Wang et al recently described a case report of the first <i>NUP214-ABL1</i> fusion in a patient with newly diagnosed acute myeloid leukemia (AML). This shows that this specific translocation is not isolated to lymphoid malignancies, and can be associated with myeloid malignancies as well. The potential use of tyrosine kinase inhibitors (TKIs) as a line of treatment for patients who harbor this translocation makes this finding of particular interest. However, while there have been individual reports noting the effect of TKIs in T-ALLs with <i>NUP214-ABL1</i> fusions, additional research is needed to fully understand the role of this mutation in myeloid derived malignancies, and its corresponding treatment and prognostic implications.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"15 9","pages":"250-255"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11349118/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142116822","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":"Conservative Treatment of Empyema Formation Following Intrathoracic Rib Fixation With Antibiotics and Tissue Plasminogen Activator/Dornase.","authors":"Aldin Malkoc, Lana Mamoun, Kendall Vignaroli, Harpreet Gill, Amira Barmanwalla, Alexander Phan, Amanda Daoud, Alexandra Nguyen, Brandon Woodward","doi":"10.14740/jmc4267","DOIUrl":"https://doi.org/10.14740/jmc4267","url":null,"abstract":"<p><p>Rib plating is a recommended intervention for patients with multiple rib fractures or flail chest to improve shortness of breath, significantly reduce pain, and shorten the length of hospital stay. Here, we report a unique and extremely rare finding in a patient with empyema following intrathoracic rib fixation. A 32-year-old male with a history of alcohol use disorder presented to the emergency department trauma bay after a motor vehicle accident. Computed tomography (CT) showed right hemopneumothorax and fourth to ninth rib fractures with displacement. The right fifth and sixth ribs were then plated using a titanium RibFix bridge, implanted intrathoracically along the posterior surface of the ribs. On postoperative day 11, the patient developed an empyema and a CT-guided drainage catheter was placed into the collection. The patient was given a 3-day course of tissue plasminogen activator (tPA) and DNase for the treatment of his empyema. On postoperative day 15, a repeat CT scan demonstrated significant improvement in the empyema with evidence of abscess resolution. Antibiotics were discontinued after a total of 7 days and the patient was discharged on postoperative day 20. This case report contributes information to the management of complications in intrathoracic rib fixation.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"15 9","pages":"215-221"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11349117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142116823","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":"Respiratory Compromise Related to Primary Histoplasmosis Infection in Two Pediatric Patients.","authors":"Collin Reeves, Michael P Tobias, Katherine Bline, Joseph D Tobias","doi":"10.14740/jmc4279","DOIUrl":"https://doi.org/10.14740/jmc4279","url":null,"abstract":"<p><p>Primary infection related to the fungus, histoplasmosis, is generally asymptomatic in immunocompetent hosts. Calcified granulomas may be noted incidentally on radiologic imaging such as chest radiographs or computed tomography imaging. However, even in immunocompetent hosts, these primary infections occasionally result in end-organ involvement including respiratory compromise. Histoplasmosis should be included in the differential diagnosis of patients presenting with respiratory involvement and mediastinal adenopathy. We present two pediatric-aged patients who developed pulmonary involvement related to a primary histoplasmosis infection that resulted in mediastinal and tracheal lymphadenopathy. These led to respiratory compromise due to pleural effusion in the first patient and tracheal compression in the second. In this paper, the basic microbiology of <i>Histoplasma capsulatum</i> is presented, previous reports of primary respiratory involvement presented, and diagnostic and therapeutic options discussed.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"15 9","pages":"237-241"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11349119/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142116826","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":"Anterior Uveitis After Discontinuation of Janus Kinase Inhibitor, Ruxolitinib.","authors":"Toshihiko Matsuo, Naoto Ikeda, Yasumasa Monobe, Takehiro Tanaka","doi":"10.14740/jmc4274","DOIUrl":"10.14740/jmc4274","url":null,"abstract":"<p><p>Primary myelofibrosis shows widespread fibrosis in the bone marrow and is part of myeloproliferative neoplasms in which gene mutations in hematopoietic stem cells lead to abnormal clonal expansion of one or more lineage of myeloid and erythroid cells and megakaryocytes. Janus kinase (JAK) inhibitors are the main therapeutic regimen for primary myelofibrosis which harbors gene mutations, resulting in continuous activation of JAK-STAT signaling pathway. Since JAK inhibitors modulate immunological state, the administration would have a potential for uveitis. A 67-year-old patient presented with weight loss of 10 kg in the past 2 years after his retirement. He showed normocytic anemia with anisocytosis and abnormal shape, as well as hepatosplenomegaly. Suspected of hematological malignancy, bone marrow biopsy led to the diagnosis of primary myelofibrosis (grade 2) with bizarre megakaryocytes and relative maintenance of myeloid and erythroid lineage. He started to have blood transfusion. Genomic DNA analysis of the peripheral blood showed a pathogenic variant in the exon 9 of calreticulin (<i>CALR</i>) gene while pathogenic variants in Janus kinase-2 (<i>JAK2</i>), and myeloproliferative leukemia virus oncogene (<i>MPL</i>) were absent. He began to have oral ruxolitinib 10 mg daily at the timepoint of 5 months after the initial visit and the dose was increased to 20 mg daily 8 months later but was discontinued further 4 months later because he showed the limited effect of ruxolitinib. He had blood transfusion every week or every 2 weeks in the following 2 months until he noticed blurred vision in the right eye. The right eye showed thick fibrin membrane formation in the anterior chamber in front of the pupil which prevented the fundus from visualization. The left eye showed no inflammation and optic nerve atrophy, sequel to tuberculous meningitis in childhood. The patient started to use 0.1% betamethasone six times daily and 1% atropine once daily as eye drops. A week later, fibrin membrane disappeared and the pupillary area with total iris posterior synechia was visible in the right eye. He regained the vision in the right eye and did not show relapse of uveitis only with topical 0.1% betamethasone. Uveitis might be related with the administration and discontinuation of ruxolitinib.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"15 8","pages":"208-214"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11287903/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141877170","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":"Peripartum Cardiomyopathy: A Case Report of Mortality From a Rare and Potentially Fatal Condition.","authors":"Diana Marcela Perea Rojas, Christian David Seni Hernandez, Indiana Luz Rojas Torres, Marianela Olivares Olmos, Camila Maria Garcia Jarava, Dario Jose Gaivao Arciniegas, Sebastian Andre Seni Hernandez, Luis Miguel Corrales Calderon, Luis Enrique Perea Vasquez, Silvia Salva Camano","doi":"10.14740/jmc4228","DOIUrl":"10.14740/jmc4228","url":null,"abstract":"<p><p>Peripartum cardiomyopathy (PPCM) poses a significant challenge in maternal health, characterized by heart failure with reduced ejection fraction during late pregnancy or early postpartum. Despite advances in understanding PPCM, it remains life-threatening with substantial maternal morbidity and mortality. This article reviews the epidemiology, etiology, diagnostic challenges, management strategies, and outcomes associated with PPCM. A case report of a 29-year-old woman with PPCM is presented, emphasizing the importance of early recognition and tailored management. The patient's presentation was marked by atypical symptoms, including dysuria, lumbar pain, persistent fever, and oral intake intolerance. Despite aggressive medical intervention, the patient experienced a tragic outcome, succumbing to cardiopulmonary arrest within 48 h of admission. This case underscores the challenges in diagnosing and managing PPCM, particularly when presenting with nonspecific symptoms and emphasizes the urgent need for improved diagnostic criteria and therapeutic interventions to mitigate adverse outcomes in affected individuals.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"15 8","pages":"171-179"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11287909/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141877173","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":"Methylphenidate for the Treatment of Post-COVID Cognitive Dysfunction (Brain Fog).","authors":"Phoebe Clark, Paul Rosenberg, Esther S Oh, Ann Parker, Tracy Vannorsdall, Alba Azola, Elizabeth Nickles, Panagis Galiatsatos, Mansoor Malik","doi":"10.14740/jmc4254","DOIUrl":"10.14740/jmc4254","url":null,"abstract":"<p><p>A substantial number of patients develop cognitive dysfunction after contracting severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), significantly contributing to long-coronavirus disease (COVID) morbidity. Despite the urgent and overwhelming clinical need, there are currently no proven interventions to treat post-COVID cognitive dysfunction (PCCD). Psychostimulants like methylphenidate may enhance both noradrenergic and dopaminergic pathways in mesolimbic and pre-frontal areas, thus improving memory and cognition. We present a case series of six patients who were treated at the Johns Hopkins Post-Acute COVID-19 Team (PACT) clinic for PCCD with methylphenidate 5 - 20 mg in the context of routine clinical care and followed for 4 to 8 weeks. Baseline and post-treatment outcomes included subjective cognitive dysfunction and objective performance on a battery devised to measure cognitive dysfunction in long-COVID patients. Three out of the six patients reported subjective improvement with methylphenidate, one patient described it as \"notable\" and another as \"marked\" improvement in memory and concentration. We also found significant pre-treatment subjective complaints of cognitive dysfunction; however, formal cognitive assessment scores were not severely impaired. A statistically significant difference in pre and post scores, favoring intervention, was found for the following cognitive assessments: Hopkins verbal learning test (HVLT) immediate recall, HVLT delayed recall and category-cued verbal fluency. The current series demonstrates promising neurocognitive effects of methylphenidate for long-COVID cognitive impairment, particularly in recall and verbal fluency domains.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"15 8","pages":"195-200"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11287906/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141877172","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 With Bilateral Hippocampal Infarction Resembling Transient Global Amnesia.","authors":"Tetsuya Akaishi, Mami Asari, Sumireko Sekiguchi, Tomoko Muroya, Makoto Hasebe","doi":"10.14740/jmc4240","DOIUrl":"10.14740/jmc4240","url":null,"abstract":"<p><p>Transient global amnesia (TGA) is a benign and transient condition with a sudden short-term amnesia. One of the conditions resembling TGA is hippocampal infarction, which requires relapse prevention treatments. In this report, we present a case with bilateral hippocampal infarction in whom distinguishing these two conditions was difficult for up to 1 week from the onset. A 60-year-old female visited our hospital with sudden onset retrograde and anterograde amnesia. Thin-slice magnetic resonance imaging (MRI) with 2-mm thickness revealed hyperintense signals on diffusion-weighted imaging (DWI) with signal loss on apparent diffusion coefficient (ADC) on both sides of the hippocampus. MRI with 5-mm thickness on day 7 revealed persistent restricted diffusion on both sides, one of which was still with decreased ADC values. Based on this finding, the diagnosis of bilateral hippocampal infarction was reached, and the relapse-preventive antiplatelet was continued. This case implied the potential difficulty of distinguishing cases with TGA and those with hippocampal infarction based on MRI findings within the first several days after onset. Thin-slice brain MRI, careful search of potential cardiovascular risks, and follow-up MRI ≥ 7 days after onset will be helpful to reach a correct diagnosis in cases with sudden amnesia.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"15 8","pages":"159-166"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11287902/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141877169","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":"Synchronous Double Primary Lung Adenocarcinomas With <i>EGFR</i> L858R Point Mutation and <i>MET</i> Exon 14 Skipping Mutation.","authors":"Seijitsu Ando, Shinji Futami, Koji Azuma, Kanako Nishimatsu, Takuma Shirasaka, Seigo Minami","doi":"10.14740/jmc4210","DOIUrl":"10.14740/jmc4210","url":null,"abstract":"<p><p>Various driver mutations and the corresponding molecular-targeted drugs have been detected and developed in non-small cell lung cancer. There were many cases in which surgical specimens had happened to find double primary cancers. However, to our knowledge, our case was the first report of synchronous double primary lung adenocarcinomas harboring epidermal growth factor receptor (<i>EGFR</i>) L858R and mesenchymal-to-epithelial transition (<i>MET</i>) exon 14 skipping mutations. A 75-year-old Japanese woman with chronic heart and renal failures was referred to our department because of a growing nodule in the right upper lung field on chest X-ray films. Chest computed tomography (CT) detected a nodule in the right S₁ and another nodule in the left S₁₊₂. Bronchoscopic biopsy diagnosed the right S₁ nodule as moderately differentiated adenocarcinoma. Oncomine Dx Target Test Multi-CDx system of the right S₁ adenocarcinoma detected <i>EGFR</i> L858R mutation. The 18^F-fluorodeoxyglucose positron emission tomography/CT showed abnormal uptakes both in the right S₁ and the left S₁₊₂ nodules, and in the bilateral inferior paratracheal lymph nodes. We made a diagnosis of c-stage IIIA (cT_1bN₂M₀) of adenocarcinoma in the right S₁ and suspected another primary lung cancer in the left S₁₊₂. Considering her general conditions, comorbidities and wishes, we started osimertinib. The right S₁ cancer achieved partial response (PR), while the left S₁₊₂ nodule and lymph nodes enlarged. Aspiration cytology from the left supraclavicular lymph node showed adenocarcinoma. The FoundationOne^® Liquid CDx tumor profiling test detected not only <i>EGFR</i> L858R, but also <i>MET</i> exon 14 skipping mutation. We made a diagnosis of another primary adenocarcinoma from the left S₁₊₂ nodule (cT_1bN₃M₀, c-stage IIIB) with <i>MET</i> mutation, and changed osimertinib to capmatinib. Although the left S₁₊₂ cancer achieved and maintained PR by capmatinib, the right S₁ cancer increased, and several new metastases appeared. The subsequent switch from capmatinib to osimertinib could not control cancers. In this case, we tried to switch monotherapies from osimertinib to capmatinib for double primary adenocarcinomas harboring different two driver mutations, according to each cancer progression. The temporal and spatial heterogeneity reinforces the need for primary tissue biopsy if dual primaries are suspected. Temporally distinct liquid biopsies, not standard at present, may be considered.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"15 8","pages":"153-158"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11287901/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141877175","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":"Primary Hyperparathyroidism and Pulmonary Embolism in Patients With a Fractured Neck of Femur.","authors":"Yashar Mashayekhi, Sara Baba-Aissa, Amina Al-Qaysi, Mohammed Eish, Abdulmalik Timamy, Maria Panourgia, Mohamed H Ahmed","doi":"10.14740/jmc4235","DOIUrl":"10.14740/jmc4235","url":null,"abstract":"<p><p>Two patients aged 82 and 77, with a fractured neck of the femur, were found to have primary hyperparathyroidism, characterized by hypercalcemia and hypercalciuria. Post-surgery, both developed pulmonary embolism (PE), highlighting a possible link between hypercalcemia and increased hypercoagulation risk. There have been few case reports suggesting the association between hypercalcemia due to hyperparathyroidism and the increase in tendency of hypercoagulation and subsequent risk of venous thromboembolism (VTE). This case series offers insights into how ionized calcium influences thrombin formation, platelet activation and aggregation, and activation of clotting factors such as factor VII and factor X, raising questions about the role of chronic hypercalcemia in VTE. Further research is needed to 1) establish whether chronic hypercalcemia in the absence of fracture can modulate the risk of hypercoagulation; 2) determine whether chronic hypercalcemia in individuals with bone fracture may represent a significantly higher hypercoagulability risk during the postoperative periods.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"15 8","pages":"180-185"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11287908/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141877174","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}