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Item A case report of constrictive pericarditis following COVID-19 vaccination(Oxford University Press, 2023-11-06) Bain, Eric; Guglin, Maya; Medicine, School of MedicineBackground: COVID-19 infection and the COVID-19 vaccines have been associated with rare cases of pericarditis. We present a case of constrictive pericarditis (CP) following the vaccine. Case summary: A 19-year-old healthy male started having progressive abdominal pain, emesis, dyspnoea, and pleuritic chest pain 2 weeks after the second dose of Pfizer vaccine. Computed tomography angiography chest revealed bilateral pleural effusions and pericardial thickening with effusion. Cardiac catheterization showed ventricular interdependence. Cardiac magnetic resonance (CMR) showed septal bounce and left ventricular tethering suggestive of CP. A total pericardiectomy was performed with significant symptom improvement. Pathology showed chronic fibrosis without amyloid, iron deposits, or opportunistic infections. Patient had Epstein-Barr Virus (EBV) viraemia 825 IU/mL and histoplasmosis complement-fixation positive with negative serum and urine antigen. Hypercoagulable panel and infectious workup were otherwise negative. The patient had resolution of cardiac symptoms at 3 months of follow-up. Discussion: The patient developed progressive symptoms within 2 weeks of his second Pfizer vaccine. Echocardiogram and CMR had classic signs of CP, and pericardial pathology confirmed fibrotic pericardium. The patient had no prior surgery, thoracic radiation, or bacterial infection. Epstein-Barr Virus viraemia was thought to be reactionary, and histoplasmosis complement likely represented chronic exposure. The timing of symptoms and negative multidisciplinary workup raises the suspicion for COVID vaccine-induced CP. The COVID vaccines benefits far exceed the risks, but complications still can occur. Practitioners should have a high index of suspicion to allow prompt diagnosis of CP.Item A case report of gender-affirming mastectomy in a transgender individual with breast cancer(AME, 2022-07-30) Bhagat, Neel; Lautenslager, Lauren; Hadad, Ivan; Surgery, School of MedicineBackground: Gender-affirming mastectomy (GAM), in contrast to simple mastectomy (SM), utilizes preservation of subcutaneous and breast tissue to produce a cosmetically favorable result for transgender patients, however does not remove all future malignancy risk. Here we present a case report of a transmale patient who was evaluated for GAM and subsequently found to have a malignant breast mass, necessitating multi-disciplinary intervention and coordination between breast and plastic surgery teams. This patient's unique and rare presentation with breast cancer prior to GAM emphasized the paucity of previously detailed cases in the literature and demonstrated the likely degree of variability in decision-making for treatment of these patients without universal guidelines for management. Case description: The patient is a 47-year-old African American transgender male who was found to have a 3-cm breast mass on routine pre-operative mammographic screening prior to GAM. Pathology confirmed grade II invasive ductal carcinoma (IDC) and further genetic testing showed the patient was BRCA2 positive. The breast and plastic surgery teams coordinated the GAM to best address the mass while achieving cosmetic goals. This case was complicated by positive nipple margins on intra-operative cold specimen, which necessitated deviation from the initial plan to perform bilateral nipple grafts, and instead utilized excess areolar tissue from the left nipple to reconstruct the contralateral right nipple. Graft survival and overall repair quality at 6 weeks was satisfactory to both patient and provider. Conclusions: This case highlights several of the challenges encountered when considering or performing GAMs in transmale patients with underlying breast cancer. Surgical considerations for these patients differ from cisgender individuals undergoing mastectomy for oncologic breast findings. Further research is needed to better determine the ideal operative practice and ideal follow-up screening for these patients.Item A case report of the metagenomics next-generation sequencing for early detection of central nervous system mucormycosis with successful rescue in patient with recurrent chronic lymphocytic leukemia(AME, 2022) Zhang, Jiaojiao; Luo, Jing; Weng, Xiangqin; Zhu, Yongmei; Goyal, Gaurav; Perna, Fabiana; Espinoza-Gutarra, Manuel; Jiang, Lu; Chen, Li; Mi, Jian-Qing; Medicine, School of MedicineBackground: Central nervous system (CNS) mucormycosis is insidious and difficult to diagnose. It progresses rapidly and causes high mortality. Rare cases have been reported during ibrutinib use, which have poor prognosis. Through this case, we share the experience of successful diagnosis and treatment. We also emphasize the importance of focusing on high-risk groups, early diagnosis and prompt management. Case description: In this case, a 52-year-old patient was diagnosed with chronic lymphocytic leukemia (CLL) for more than 5 years. He was in remission after rituximab plus fludarabine and cyclophosphamide (RFC) regimen, and relapsed in the fourth year. During the ibrutinib monotherapy, the patient presented with sudden headache. Cranial imaging examination revealed a definite right occipitoparietal lobe mass with extensive edema. A rapid diagnosis of mucormycosis infection was made using metagenomic next-generation sequencing (mNGS). The patient at that time didn't have neutropenia, but he had hypogammaglobulinemia. The infection was treated with amphotericin B cholesteryl sulfate complex, posaconazole, and interventional surgery, and the treatment was successful. At the same time, we considered the control of disease progression in this relapsed patient with, as well as to the drug interaction with posaconazole. We chose the next generation Bruton's tyrosine kinase (BTK) inhibitor zanubrutinib as the treatment, whose safety has been identified. As of the submission date, the patient has been followed up for nearly 1 year, and his disease is stable. Conclusions: When new clinical problems arise in recurrent CLL patients, it is important to identify multiple factors, especially the insidious fungal infections. In particular, the immunocompromised patients should be concerned. CNS mucormycosis is extremely deadly, the early diagnosis will improve the prognosis. In clinical practice, the gold standard diagnosis of mucormycosis is difficult to obtain through pathology. In this case, mNGS was applied to quickly diagnose mucormycosis, enabling earlier treatment and ameliorating the prognosis. Thus, it will help us to early detect this group of people who may be potentially infected. Current guidelines do not recommend the prophylactic use of antifungal agents in treated CLL patients. However, in patients with prior severe infection or hypogammaglobulinemia, intravenous immunoglobulin is recommended to reduce the associated infection rate.Item Acute penetrating injury of the spinal cord by a wooden spike with delayed surgery: a case report(Wolters Kluwer, 2023) Guest, James D.; Luo, Zhuojing; Liu, Yansheng; Gao, Hongkun; Wang, Dianchun; Xu, Xiao-Ming; Zhu, Hui; Neurology, School of MedicineRarely, penetrating injuries to the spinal cord result from wooden objects, creating unique challenges to mitigate neurological injury and high rates of infection and foreign body reactions. We report a man who sustained a penetrating cervical spinal cord injury from a sharpened stick. While initially tetraparetic, he rapidly recovered function. The risks of neurological deterioration during surgical removal made the patient reluctant to consent to surgery despite the impalement of the spinal cord. A repeat MRI on day 3 showed an extension of edema indicating progressive inflammation. On the 7th day after injury, fever and paresthesias occurred with a large increase in serum inflammatory indicators, and the patient agreed to undergo surgical removal of the wooden object. We discuss the management nuances related to wood, the longitudinal evolution of MRI findings, infection risk, surgical risk mitigation and technique, an inflammatory marker profile, long-term recovery, and the surprisingly minimal neurological deficits associated with low-velocity midline spinal cord injuries. The patient had an excellent clinical outcome. The main lessons are that a wooden penetrating central nervous system injury has a high risk for infection, and that surgical removal from the spinal cord should be performed soon after injury and under direct visualization.Item Adenocarcinoma Harboring EGFR-RAD51 Fusion Treated with Osimertinib: A Case Report(Elsevier, 2024-04) Lai, Sunny Y.; Richardson, Noah H.; Tran, Mya; Hanna, Nasser H.; Shields, Misty D.; Medicine, School of MedicineEGFR mutations are among the most common driver mutations in lung adenocarcinoma. Rare alterations, such as the EGFR-RAD51 fusion, respond to treatment with EGFR tyrosine kinase inhibitors but can be missed by limited genomic sequencing panels. Here, we report a case of metastatic lung adenocarcinoma in a never-smoker patient who initially did not have a targetable alteration identified on two different sequencing panels. The initial response to combination chemoimmunotherapy was short-lived. A rare EGFR-RAD51 fusion was then identified using a more in-depth sequencing panel. The patient experienced a dramatic and durable response to osimertinib. This case highlights the rarity of EGFR-RAD51 fusions, the efficacy of EGFR tyrosine kinase inhibitors, and the importance of a thorough search for targetable alterations in never-smokers with lung adenocarcinoma.Item An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination(Hindawi, 2020-08-31) Peterman, Leia A.; Vance, Gail H.; Conboy, Erin E.; Anderson, Katelynn; Weaver, David D.; Medical and Molecular Genetics, School of MedicineWe report on a 12-year-old female with both a partial duplication and deletion involving chromosome 6. The duplication involves 6p25.3p24.3 (7.585 Mb) while the deletion includes 6q27q27 (6.244 Mb). This chromosomal abnormality is also described as distal trisomy 6p and distal monosomy 6q. The patient has a Chiari II malformation, hydrocephalus, agenesis of the corpus callosum, microcephaly, bilateral renal duplicated collecting system, scoliosis, and myelomeningocele associated with a neurogenic bladder and bladder reflux. Additional features have included seizures, feeding dysfunction, failure to thrive, sleep apnea, global developmental delay, intellectual disability, and absent speech. To our knowledge, our report is just the sixth case in the literature with concomitant distal 6p duplication and distal 6q deletion. Although a majority of chromosomal duplication-deletion cases have resulted from a parental pericentric inversion, the parents of our case have normal chromosomes. This is the first reported de novo case of distal 6p duplication and distal 6q deletion. Alternate explanations for the origin of the patient's chromosome abnormalities include parental gonadal mosaicism, nonallelic homologous recombination, or potentially intrachromosomal transposition of the telomeres of chromosome 6. Nonpaternity was considered but ruled out by whole exome sequencing analysis.Item Appendectomy or not in middle-aged male with non-inflamed appendix in Amyand’s hernia? Case report and literature review(Elsevier, 2020) Millay, David S.; Ofoma, Chiedozie Max; Brounts, Lionel R.; Medicine, School of MedicineIntroduction: An Amyand's hernia is a rare disease where a vermiform appendix is found within an inguinal hernia sac. It is reported in the literature as having an incidence between 0.4%-1.0% of reported hernia cases. Typically, an incidental finding, Amyand's hernia is consequently found more frequently intra-operatively rather than preoperatively. Presentation of case: This case is a recount of a 56-year-old male, who presented in an outpatient setting for the evaluation of right inguinal pain and bulge. The patient was diagnosed with a vermiform appendix within the indirect hernia. The patient underwent elective repair of his inguinal hernia via Transabdominal Preperitoneal (TAPP) approach of the hernia with avoidance of appendectomy. Discussion: An Amyand's hernia presents a challenging diagnosis and the treatment algorithm is contingent on the condition of the appendix in individual cases. This case presents a Type 1 Amyand's hernia that was repaired through laparoscopic approach using prosthetic mesh. The aim of this case study highlights the approach to surgical decision making in the diagnosis and treatment of Amyand's hernia proposed in the current literature. Conclusion: This case presents a rare condition known as Amyand's hernia followed by a discussion on the epidemiology, diagnostic workup, and treatment options. Treatment is dependent on the state of the appendix found in the hernia sac and the clinical scenario. Comprehensive literature review shows that the true prevalence of this disease is lower than classically described and still has no clear standardized approaches.Item Blunt aortic injury-traumatic aortic isthmus pseudoaneurysm with right iliac artery dissection aneurysm: A case report(Baishideng Publishing Group, 2022) Fang, Xiao-Xin; Wu, Xin-Hui; Chen, Xiao-Feng; Radiation Oncology, School of MedicineBackground: Blunt aortic injury is a special type of aortic disease. Due to its low incidence, high prehospital mortality and high probability of leakage diagnosis, the timely identification of patients with blunt aortic injury who survive the initial injury has always been a clinical challenge. Case summary: We report a case of traumatic aortic pseudoaneurysm with right iliac artery dissection aneurysm that was diagnosed 3 mo after a traffic accident. The patient is a 76-year-old male who was knocked down by a fast-moving four-wheel motor vehicle while crossing the road (the damage mechanism was side impact). He received chest, cranial computed tomography (CT) and whole abdomen enhanced CT in the local hospital. The images suggested subarachnoid hemorrhage, right frontoparietal scalp hematoma, fracture of the right clavicle and second rib, lump-shaped mediastinal shadow outside the anterior descending thoracic aorta (mediastinal hematoma), mesenteric vascular injury with hematoma formation, pelvic fracture, and subluxation of the left sacroiliac joint. After the pelvic fracture was fixed with an external stent, he was sent to our hospital for further treatment. In our hospital, he successfully underwent partial resection of the small intestine and CT-guided screw internal fixation of the left sacroiliac joint and returned to the local hospital for rehabilitation treatment. However, since the accident, the patient has been suffering from mild chest pain, which has not aroused the attention of clinicians. During rehabilitation, his chest pain gradually worsened, and the thoracic aorta computed tomography angiography performed in the local hospital showed a pseudoaneurysm in the initial descending segment of the aortic arch. After transfer to our hospital, a dissecting aneurysm of the right external iliac artery was incidentally found in the preoperative evaluation. Finally, endovascular stent graft repair was performed, and he was discharged on the 10th day after the operation. No obvious endo-leak was found after 4 years of follow-up. Conclusion: We highlight that emergency trauma centers should consider the possibility of aortic injury in patients with severe motor vehicle crashes and repeat the examination when necessary to avoid missed diagnoses.Item Case Report: A Tale of a Cardiac Mass: Looks Like a Papillary Fibroelastoma, Acts Like a Non-bacterial Thromboendocarditis(Frontiers Media, 2021-11-12) Ahmad, Ali; Arghami, Arman; El-Am, Edward A.; Foley, Thomas A.; Kurmann, Reto D.; Klarich, Kyle W.; Medicine, School of MedicineIntroduction: Benign cardiac tumors and tumor like conditions are a heterogeneous collection of mass lesions that vary widely in their characteristics, such as presentation, size, and location. In some instances, these tumors are found incidentally, and therefore a broad differential diagnosis should be considered. Case: An elderly male with significant unintentional weight loss and a high risk for cancer presented with an incidental valvular cardiac mass. The mass was thought to be a non-bacterial thromboendocarditis on initial clinical evaluation. After multiple imaging modalities, the mass was suspected to be a papillary fibroelastoma (PFE), which was resected due to high stroke risk and multiple previous chronic infarcts on brain MRI. Conclusion: This case highlights the need for a comprehensive cardiac evaluation of a valvular tumor to discern the etiology and rule out other underlying pathophysiological processes that may require alternative interventions to cardiac surgery.Item Case Report: Candida dubliniensis as a Cause of Chronic Meningitis(Frontiers Media, 2020-12-08) Tahir, Madiha; Peseski, Andrew M.; Jordan, Stephen J.; Medicine, School of MedicineBackground: Candida dubliniensis is closely related to Candida albicans and rarely isolated in clinical specimens. C. dubliniensis is increasingly recognized as a pathogen in immunocompromised hosts. We present the third known case of Candida dubliniensis meningitis in a young immunocompetent host. Case Presentation: A 27-year-old female with a history of intravenous heroin use and chronic hepatitis C presented with a 10-month history of headaches and progressive bilateral vision loss. On physical examination, visual acuity was 20/20 in her right eye and grade II papilledema was noted. Examination of her left eye revealed complete loss of vision and grade IV papilledema. An MRI with and without contrast revealed increased leptomeningeal enhancement involving the posterior fossa and spinal cord. After multiple lumbar punctures, cerebrospinal fluid fungal cultures grew Candida dubliniensis. The patient was successfully treated with a combination of liposomal amphotericin and fluconazole for 6 weeks with complete resolution of her CNS symptoms, with the exception of irreversible vision loss. Conclusion: We report a case of chronic meningitis due to Candida dubliniensis in an immunocompetent woman with hepatitis C and a history of intravenous heroin use. Additional studies are needed to confirm risk factors for Candida dubliniensis colonization, which likely predisposes individuals to invasive candidiasis.
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