OpenMed/multicare-articles huggingface dataset:
Case Report: Fatal Multiorgan Failure and Heterochronous Pneumonitis Following Pembrolizumab Treatment in a Patient With Large-Cell Neuroendocrine Carcinoma of Lung
Authors: Xiaohong Xie, Fei Wang, Yinyin Qin, Xinqing Lin, Zhanhong Xie, Ming Liu, Ming Ouyang, Bihui Luo, Yingying Gu, Shiyue Li, Dejian Gu, Rongrong Chen, Chengzhi Zhou
Journal: Front Pharmacol (2021)
Keywords: immune-related adverse events, myasthenia gravis, myocarditis, pembrolizumab, pneumonitis
MeSH terms: Case Reports

Immune checkpoint inhibitors have radically changed the landscape of antitumor therapies in several malignancies. Despite the long-term efficacy, severe immune-related adverse events (irAEs) were not uncommon. However, fatal simultaneous multiorgan failure was rare. Here, we described a patient who developed multiorgan failure, including fulminant myocarditis, myasthenia gravis crisis, hepatic dysfunction, and delayed pneumonitis after pembrolizumab therapy for lung large-cell neuroendocrine carcinoma. After failure of high-dose steroid treatment, implantation of cardiac pacemaker combined with high-dose steroids successfully controlled myocarditis caused by immune checkpoint inhibitors (ICIs). Delayed pneumonitis occurred unexpectedly, and it was treated successfully with steroids. With wild adoption of ICIs in clinical practice, investigations for predictive markers of irAEs are warranted, and more successful treatment strategies are worth sharing.
Hyperbaric Oxygen Therapy of an Adolescent Stem Cell Transplantation Recipient with Hemorrhagic Cystitis and BK Virus
Authors: David López, Abdullah Alismail, Laren D Tan
Journal: Case Rep Pulmonol (2020)
MeSH terms: Case Reports

Hyperbaric oxygen therapy (HBOT) continues to show effectiveness in the treatment of several diseases and benefits such as fibroblast proliferation, capillary angiogenesis, and decreasing edema, especially in hemorrhagic cystitis (HC). We report a case of a 15-year-old male with chronic myelogenous leukemia status posthaploidentical stem cell transport with BK virus in the United States to be treated by HBOT. The patient received a total of 30 HBOT treatments for 90 minutes at 2 ATA. After HBOT treatments, patient showed signs of improvements such as cessation of hemorrhage cystitis. The findings of this case support and shows that there is growing evidence for the use of HBOT as adjunctive therapy for patients with BK virus associated with HC after stem cell transplantation.
A Case of Tick-Borne Paralysis in a Traveling Patient
Authors: Kevin Ha, Kathryn Lewis, Vandan Patel, Jennifer Grinceri
Journal: Case Rep Neurol Med (2019)
MeSH terms: Case Reports

Background:
Tick paralysis is a neurotoxic tick-borne illness that causes ascending paralysis and may lead to respiratory failure. Patients often undergo extensive testing and prolonged hospitalization before the proper diagnosis is reached.
Case presentation:
An 88-year-old man with dementia and dyslipidemia presented with new onset gait instability and was admitted for suspected cerebellar stroke. Exam was significant for the inability to perform tandem gait. Investigations included comprehensive metabolic panel, complete blood count, and noncontrast CT scan; none of them found any evidence of acute pathology. Two days into admission, a tick with surrounding erythema was found on the patient's left lateral chest during bathing. Dramatic improvement in truncal ataxia was noted following tick extraction.
Discussion:
Clinical suspicion of tick paralysis is often low due to the rarity of the condition. Although it is imperative to rule out acute cerebral or cerebellar pathology, a thorough skin examination should be performed on admission in any patient with new onset ataxia and ascending paralysis. This can lead to early diagnosis, conservation of resources, and the avoidance of subjecting patients to invasive testing.
Open Repair of a 12-cm Posttraumatic Aneurysm of Right Subclavian Artery
Authors: Konstantinos Tigkiropoulos, Omiros Chalvatzoulis, Eleftherios Chalvatzoulis, Kyriakos Stavridis, Dimitrios Karamanos, Ioannis Lazaridis, Andreas Efstathiou, Nikolaos Saratzis
Journal: Front Surg (2017)
Keywords: innominate-axillary bypass, open repair, posttraumatic aneurysm, subclavian artery aneurysm
MeSH terms: Case Reports

Purpose:
To present a rare case of a patient with a 12-cm posttraumatic right subclavian artery aneurysm successfully treated with aneurysmectomy and innominate-axillary bypass.
Case report:
A 54-year-old man presented to the emergency department due to progressive dyspnea and hoarseness of voice. His medical record was unremarkable except that he had right-sided pneumothorax and multiple rib fractures from a car accident 16 years ago. A chest X-ray showed a mass in the upper lobe of the right lung, and the patient was hospitalized for further investigation. A computed tomography (CT) with intravenous contrast of the thorax was performed, which depicted a giant aneurysm of the right subclavian artery. Vascular and cardiothoracic surgeons were consulted immediately, and the operation was scheduled. Aneurysmectomy and innominate-axillary bypass were performed. The patient had an uncomplicated progress and was discharged on 5 days followed by a single antiplatelet therapy and symptom-free.
Conclusion:
Posttraumatic subclavian artery aneurysm is a rare entity. Imaging of the thorax is essential for the diagnosis and surgical preparation of the patient. Open repair remains the gold standard therapy for subclavian artery aneurysm despite the improvements in endovascular surgery in such huge aneurysms.
Delayed presentation of trichobezoar with small bowel obstruction
Authors: Naima Zamir, Jamshed Akhtar, Soofia Ahmed
Journal: APSP J Case Rep (2011)
Keywords: child, intestinal obstruction, trichobezoar
MeSH terms: Case Reports

Small bowel obstruction is a common surgical emergency but trichobezoar as an etiology, rarely reported. A seven year old school going female child presented with acute intestinal obstruction with a palpable and mobile mass in the abdomen. At exploration, a 10 cm long trichobezoar was found in the distal ileum which was removed through enterotomy. Postoperative course remained uneventful. Further probing revealed that child used to eat her own scalp hairs at the age of 2 years and the habit persisted for about 18 months which resulted in alopecia at that time. Later on she started showing normal behavior.
Older adult-onset Alexander disease with atypical clinicoradiological features: a case report
Authors: You-Ri Kang, Tai-Seung Nam, Jae-Myung Kim, Kyung Wook Kang, Seung-Han Lee, Seong-Min Choi, Myeong-Kyu Kim
Journal: Front Neurol (2023)
Keywords: alexander disease, age of onset, brainstem atrophy, magnetic resonance imaging, medulla oblongata
MeSH terms: Case Reports

Alexander disease (AxD) is a rare autosomal dominant astrogliopathy caused by mutations in the gene encoding for glial fibrillary acidic protein. AxD is divided into two clinical subtypes: type I and type II AxD. Type II AxD usually manifests bulbospinal symptoms and occurs in the second decade of life or later, and its radiologic features include tadpole-like appearance of the brainstem, ventricular garlands, and pial signal changes along the brainstem. Recently, eye-spot signs in the anterior medulla oblongata (MO) have been reported in patients with elderly-onset AxD. In this case, an 82-year-old woman presented with mild gait disturbance and urinary incontinence without bulbar symptoms. The patient died 3 years after symptom onset as a result of rapid neurological deterioration after a minor head injury. MRI showed signal abnormalities resembling angel wings in the middle portion of the MO along with hydromyelia of the cervicomedullary junction. Herein, we report the case of this patient with older adult-onset AxD with an atypical clinical course and distinctive MRI findings.
Difficulty in Diagnosing Rare Cardiac Tumors: A Case Series
Authors: Jiaxi Dong, Ling Wang, Joseph Salvatore, Michelle W Lau
Journal: Cureus (2023)
Keywords: cardiac biopsy, cardiac tumor, rare cancers, small cell carcinomas, spindle cell sarcoma
MeSH terms: Case Reports

Primary cardiac tumors are rare because metastatic lesions from distant sites account for most masses. We are reporting two cases of malignant intracardiac masses with their diagnostic dilemma. Our first patient is a 72-year-old male with a pertinent history of desmoplastic and spindle cell melanoma who presented after his surveillance positron emission tomography (PET) scan showed a hypermetabolic lesion in the inferior pericardium. The initial impression for this mass is recurrent malignant melanoma. After an initial negative endometrial biopsy, the patient underwent debulking surgery, and pathology revealed high-grade spindle cell sarcoma. The patient underwent chemotherapy but had a disease progression and ultimately elected hospice care. Our second patient is a 75-year-old male with a history of stage IB adenocarcinoma of the lung who presented with progressive dyspnea. An echocardiogram revealed a moderate-sized left ventricular mass. Initial assessment based on tumor morphology and location suggested possible cardiac sarcoma. However, the patient's subsequent cardiac biopsy revealed small cell carcinoma, likely of primary cardiac origin, as no other primary nidus of the tumor was seen. Based on this result, the patient has been started on carboplatin, etoposide, and atezolizumab and responded well as of the writing of this manuscript. Given the rarity of malignant primary cardiac tumors and their variable clinical presentation, intracardiac masses are often diagnosed incidentally. In addition, given the high risk of biopsy for intracardiac masses, a presumptive diagnosis is rendered via imaging techniques. However, most of these tumors have no pathognomonic imaging findings, and their diagnosis relies heavily on physician interpretation and experience. Our case series illustrated the unpredictable nature of noninvasive methods and that even endometrial biopsy can return a false negative. Therefore, it is essential to be persistent in obtaining a pathological diagnosis, especially if the clinical picture is unclear. While these more invasive methods present the challenge of identifying whether the procedure is truly needed and locating a skilled operator, it could change the diagnosis entirely and open the patient up to new therapies.
Identification of Clonal Neoantigens Derived From Driver Mutations in an EGFR-Mutated Lung Cancer Patient Benefitting From Anti-PD-1
Authors: Di Wu, Yangyang Liu, Xiaoting Li, Yiying Liu, Qifan Yang, Yuting Liu, Jingjing Wu, Chen Tian, Yulan Zeng, Zhikun Zhao, Yajie Xiao, Feifei Gu, Kai Zhang, Yue Hu, Li Liu
Journal: Front Immunol (2020)
Keywords: cancer immunotherapy, epidermal growth factor receptor, immune checkpoint blockade, neoantigens, tyrosine kinase inhibitor
MeSH terms: Antigens, Neoplasm / immunology, Carcinoma, Non-Small-Cell Lung / drug therapy, Carcinoma, Non-Small-Cell Lung / genetics, Carcinoma, Non-Small-Cell Lung / immunology, Immune Checkpoint Inhibitors / therapeutic use, Lung Neoplasms / drug therapy, Lung Neoplasms / genetics, Lung Neoplasms / immunology, Nivolumab / therapeutic use, Case Reports, Research Support, Non-U.S. Gov't, Adult, B7-H1 Antigen / antagonists & inhibitors, ErbB Receptors / genetics, Humans, Male, Mutation, Antigens, Neoplasm, B7-H1 Antigen, CD274 protein, human, Immune Checkpoint Inhibitors, Nivolumab, EGFR protein, human, ErbB Receptors

Epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) have been recommended as the first-line therapy for non-small cell lung cancer (NSCLC) patients harboring EGFR mutations. However, acquired resistance to EGFR-TKIs is inevitable. Although immune checkpoint blockades (ICBs) targeting the programmed cell death 1 (PD-1)/PD-ligand (L)1 axis have achieved clinical success for many cancer types, the clinical efficacy of anti-PD-1/PD-L1 blockades in EGFR mutated NSCLC patients has been demonstrated to be lower than those without EGFR mutations. Here, we reported an advanced NSCLC patient with EGFR driver mutations benefitting from anti-PD-1 blockade therapy after acquiring resistance to EGFR-TKI. We characterized the mutational landscape of the patient with next-generation sequencing (NGS) and successfully identified specific T-cell responses to clonal neoantigens encoded by EGFR exon 19 deletion, TP53 A116T and DENND6B R398Q mutations. Our findings support the potential application of immune checkpoint blockades in NSCLC patients with acquired resistance to EGFR-TKIs in the context of specific clonal neoantigens with high immunogenicity. Personalized immunomodulatory therapy targeting these neoantigens should be explored for better clinical outcomes in EGFR mutated NSCLC patients.
Diabetes Mellitus in a Patient With Lafora Disease: Possible Links With Pancreatic β-Cell Dysfunction and Insulin Resistance
Authors: Ramona C Nicolescu, Sara Al-Khawaga, Berge A Minassian, Khalid Hussain
Journal: Front Pediatr (2019)
Keywords: epm2a, epm2b/nhlrc1, lafora disease, diabetes, glycogen metabolism, insulin resistance
MeSH terms: Case Reports

Lafora disease (LD) is a rare autosomal recessive disorder characterized by progressive myoclonic epilepsy followed by continuous neurological decline, culminating in death within 10 years. LD leads to accumulation of insoluble, abnormal, glycogen-like structures called Lafora bodies (LBs). It is caused by mutations in the gene encoding glycogen phosphatase (EPM2A) or the E3 ubiquitin ligase malin (EPM2B/NHLRC1). These two proteins are involved in an intricate, however, incompletely elucidated pathway governing glycogen metabolism. The formation of EPM2A and malin signaling complex promotes the ubiquitination of proteins participating in glycogen metabolism, where dysfunctional mutations lead to the formation of LBs. Herein, we describe a 13-years-old child with LD due to a NHLRC1 (c.386C > A, p.Pro129His) mutation, who has developed diabetes mellitus and was treated with metformin. We discuss how basic mechanisms of LD could be linked to β-cell dysfunction and insulin resistance.
Complete Remission of Advanced Adrenocortical Cancer Following Mitotane Monotherapy: A Case Report and Literature Review of Predictive Markers
Authors: Judit Tőke, Zsuzsanna Jakab, Júlia Stark, Gergely Huszty, Péter Reismann, Miklós Tóth
Journal: Front Oncol (2021)
Keywords: adrenocortical cancer, complete remission, mitotane, monotherapy, predictive markers
MeSH terms: Case Reports

Mitotane has been used for the treatment of adrenocortical cancer (ACC) for over 50 years. Despite its widespread use both in monotherapy and in combination with chemotherapeutics, our knowledge of its mechanism of action and therapeutic efficacy is scarce. The number of patients with advanced ACC who have achieved complete remission documented by detailed clinical data is below ten. We report a case of a 64-year-old woman with a non-functional ACC. Histological examination showed vascular invasion, Ki67 of 10% and a mitotic count of 3/10 high-power field. Immunohistochemistry revealed p53 positivity. Pathological TNM grade was reported as T2N0M0, ENSAT stage 2. Nine months after the initial diagnosis, re-staging CT revealed multiple peritoneal nodules, lymph node and kidney metastases confirmed by histologic examination. Mitotane monotherapy was started with a maintenance dose between 2.0 and 2.5 grams/day. Partial remission was established at six months. Subsequently, for another 12 months, each of the three-monthly CT scans confirmed complete remission. Nineteen months after the initiation of mitotane, an unexpected sudden death occurred. A detailed autopsy work-up, performed in the full awareness of oncological history, confirmed complete remission. The authors review the molecular biomarkers and clinical features reported as predictors of response to mitotane monotherapy.
Ring chromosome 18 in combination with 18q12.1 (DTNA) interstitial microdeletion in a patient with multiple congenital defects
Authors: Anna Zlotina, Tatiana Nikulina, Natalia Yany, Olga Moiseeva, Tatiana Pervunina, Eugeny Grekhov, Anna Kostareva
Journal: Mol Cytogenet (2016)
Keywords: array-based cgh, dtna deletion, ring(18), subaortic stenosis, α-dystrobrevin
MeSH terms: Case Reports

Background:
Ring chromosome 18 [r(18)] syndrome represents a relatively rare condition with a complex clinical picture including multiple congenital dysmorphia and varying degrees of mental retardation. The condition is cytogenetically characterized by a complete or mosaic form of ring chromosome 18, with ring formation being usually accompanied by the partial loss of both chromosomal arms. Here we observed a 20-year-old male patient who along with the features typical for r(18) carriers additionally manifested a severe congenital subaortic stenosis. To define the genetic basis of such a compound phenotype, standard cytogenetic and high-resolution molecular-cytogenetic analysis of the patient was performed.
Case presentation:
Standard chromosome analysis of cultured lymphocytes confirmed 46, XY, r(18) karyotype. Array-based comparative genomic hybridization (array-CGH) allowed to define precisely the breakpoints of 18p and 18q terminal deletions, thus identifying the hemizygosity extent, and to reveal an additional duplication adjoining the breakpoint of the 18p deletion. Apart from the terminal imbalances, we found an interstitial microdeletion of 442 kb in size (18q12.1) that encompassed DTNA gene encoding α-dystrobrevin, a member of dystrophin-associated glycoprotein complex. While limited data on the role of DTNA missense mutations in pathogenesis of human cardiac abnormalities exist, a microdeletion corresponding to whole DTNA sequence and not involving other genes has not been earlier described.
Conclusions:
A detailed molecular-cytogenetic characterization of the patient with multiple congenital abnormalities enabled to unravel a combination of genetic defects, namely, a ring chromosome 18 with terminal imbalances and DTNA whole-gene deletion. We suggest that such combination could contribute to the complex phenotype. The findings obtained allow to extend the knowledge of the role of DTNA haploinsufficiency in congenital heart malformation, though further comprehensive functional studies are required.
Case report: Three-dimensionally printed patient-specific acetabular cage for revision surgery of aseptic loosening in a dog with micro total hip replacement
Authors: AhRan Kang, Haebeom Lee, Yoonho Roh, Daehyun Kim, Seong Mok Jeong, Jaemin Jeong
Journal: Front Vet Sci (2022)
Keywords: aseptic loosening, canine, micro total hip replacement, patient-specific acetabular cage, revision surgery
MeSH terms: Case Reports

A 2-year-old castrated male Pomeranian dog was presented for regular follow-up after micro total hip replacement (mTHR) 16 months prior to presentation. Clinically, the dog did not show any noticeable lameness of the left hindlimb, except for external rotation during walking. However, radiographic findings, namely rotation and medialization of the acetabular cup with a periprosthetic lucent line and bone formation medial to the acetabulum, were interpreted as aseptic loosening of the acetabular component. Because the dog was incompatible with the conventional THR revision method owing to severe bone defects in the acetabulum, a patient-specific titanium acetabular cage prosthesis with biflanges and four cranial and one caudal screw hole was designed for revision surgery. A custom-made acetabular cage was prepared, and it had a 12-mm polyethylene cup fixed with polymethylmethacrylate bone cement and positioned in the acetabulum. After the custom-made acetabular cage was anchored to the pelvic bone with the five cortical screws, reduction of the prostheses was achieved smoothly. The dog showed almost normal limb function without external rotation of the left hindlimb 2 weeks postoperatively. Bone remodeling and stable implant position were noted on radiographic images 3 years after revision surgery, with no evidence of loosening. Based on the clinical outcomes, the use of a custom-made acetabular prosthesis can be an effective treatment option for revision arthroplasty in acetabula with severe bone loss and structural changes in small-breed dogs.
Henoch-schonlein purpura-a case report and review of the literature
Authors: Amit B Sohagia, Srinivas Guptha Gunturu, Tommy R Tong, Hilary I Hertan
Journal: Gastroenterol Res Pract (2010)
MeSH terms: Case Reports

We describe a case of an adolescent male with Henoch-Schonlein purpura (HSP), presenting with cutaneous and gastrointestinal manifestations. Endoscopy revealed diffuse ulcerations in the stomach, duodenum, and right colon. Biopsies revealed a leukocytoclastic vasculitis in the skin and gastrointestinal tract. Steroid therapy led to complete resolution of the symptoms. HSP is the most common childhood vasculitis, and is characterized by the classic tetrad of nonthrombocytopenic palpable purpura, arthritis or arthralgias, gastrointestinal and renal involvement. It is a systemic disease where antigen-antibody (IgA) complexes activate the alternate complement pathway, resulting in inflammation and small vessel vasculitis. Mild disease resolves spontaneously, and symptomatic treatment alone is sufficient. Systemic steroids are recommended for moderate to severe HSP. The prognosis depends upon the extent of renal involvement, which requires close followup. Early recognition of multiorgan involvement, especially outside of the typical age group, as in our adolescent patient, and appropriate intervention can mitigate the disease and limit organ damage.
Adenocarcinoma Metastasis from Colon to the Thyroid
Authors: Parviz Mardani, Nazanin Ayareh, Hooman Kamran, Reza Shahriarirad, Masoud Vafabin, Neda Soleimani
Journal: Case Rep Surg (2022)
MeSH terms: Case Reports

Background:
Colorectal cancer metastasis to the thyroid is extremely rare and happens in the late course of the disease. Case Description. Here is the report of a 55-year-old female patient who came to us with the chief complaint of cough, diagnosed with colon metastasize to the lung. Surgical resection of the mass was performed. However, a thyroid mass was found incidentally in her postoperative follow-up. Fine needle aspiration of thyroid mass showed papillary thyroid carcinoma. But, after thyroidectomy, the origin of the mass was reported to be adenocarcinoma metastasis from colon cancer.
Conclusion:
Although thyroid metastasis from colorectal cancer rarely occurs, it should be considered in a patient with a solitary thyroid nodule and a past medical history of colon cancer. Surgical treatment is the preferred choice of treatment in these cases.
Pachymeningitis in granulomatosis with polyangiitis: a case report and a review of the literature
Authors: Grigorios T Sakellariou, Nicoleta Kefala
Journal: Case Rep Rheumatol (2013)

Central nervous involvement, mainly with symptoms of cranial neuropathies, occurs in 2-8% of patients with granulomatosis with polyangiitis (GPA). Meningeal involvement, with persistent and severe headache as main manifestation and abnormal thickening and enhancement of the dural mater on postcontrast magnetic resonance imaging, is extremely rare. We present a case of pachymeningitis due to limited GPA, providing simultaneously a literature review.