OpenMed/multicare-articles huggingface dataset:
5-FU induced cardiotoxicity: case series and review of the literature
Authors: Cai Yuan, Hiral Parekh, Carmen Allegra, Thomas J George, Jason S Starr
Journal: Cardiooncology (2019)
Keywords: 5-fu, 5-fluorouracil, antimetabolite, cancer, cancer complications, cardiotoxicity, colorectal cancer, fluoropyrimidine, toxicity
MeSH terms: Review

Background:
5-Fluorouracil (5-FU) is an antimetabolite chemotherapy used for a variety of solid tumors. It has the potential to cause a wide spectrum of cardiotoxicity, ranging from asymptomatic electrocardiographic changes to cardiomyopathy and subsequent cardiac failure. Main body of the abstract: We present two descriptive cases of new-onset severe cardiomyopathy induced by 5-FU followed by a review of the literature.
Conclusion:
Our case series emphasizes the importance of early recognition of this rare complication and prompt cessation of 5-FU, as cardiac dysfunction in this context is potentially reversible.
Case Report: Prenatal Diagnosis of Nemaline Myopathy
Authors: Dongmei Liu, Jiali Yu, Xin Wang, Yang Yang, Li Yu, Shi Zeng, Ming Zhang, Ganqiong Xu
Journal: Front Pediatr (2022)
Keywords: klhl40 gene, amyoplasia, arthrogryposis multiplex congenita, nemaline myopathy, prenatal diagnosis
MeSH terms: Case Reports

Nemaline myopathy (NM) is a rare, hereditary heterogeneous myopathy. Fetal NM has a more severe disease course and a poorer prognosis and is usually lethal during the first few months of life. Hence, early prenatal diagnosis is especially important for clinical interventions and patient counseling. We report the case of a fetus with NM due to KLHL40 gene variation leading to arthrogryposis multiplex congenita (AMC). The ultrasonography and histopathology results revealed an enhanced echo intensity and decreased muscle thickness, which may be novel features providing early clues for the prenatal diagnosis of NM. Moreover, to our knowledge, this article is the first report to describe a case of NM associated with complex congenital heart disease (CHD).
Case report: Utilization and efficacy of large-bore catheters in mechanical thrombectomies
Authors: Meghna Bhattacharyya, Clint A Badger, Brian T Jankowitz, Hamza A Shaikh
Journal: Front Neurol (2023)
Keywords: efficacy, large-bore catheters, mechanical thrombectomy, safety, stroke
MeSH terms: Case Reports

Thrombotic strokes are caused by occlusion of flow in a blood vessel by a clot or thrombus, resulting in disruption of oxygen and nutrients to the brain that can result in neurological deficits. There are many devices now available for safe and effective removal of thrombi from large blood vessels. This report focuses on the Zoom 0.088" large-bore catheter, which has the potential to be navigated into a large vessel for thrombus removal via aspiration, and weigh the risks and benefits of its utilization in thrombectomy patients. In this case, we discuss the use of this device for thrombectomy of a left M1 middle cerebral artery occlusion that resulted in a distal left MCA dissection and eventual loss of access to the site of the thrombus. Ultimately, the patient died from a large stroke in the left MCA territory. In light of this occurrence, we seek to explore the utility and feasibility of large-bore catheters and their risks in thrombectomy candidates.
Spinal Cord Infarction in the Course of a Septic Shock: About One Case and Review of the Literature
Authors: P Henin, A Molderez, V Huberlant, H Trine
Journal: Case Rep Crit Care (2017)
MeSH terms: Case Reports

We report the case of a patient admitted to our intensive care unit in the course of a septic shock, secondary to cholangitis. After rapid hemodynamic stabilization, antibiotherapy, and endoscopic extraction of bile ducts stones, she appeared to have developed flaccid paraplegia. The suspected diagnosis of medullar ischemia was confirmed by typical MRI findings. This case stresses the potential pathogenic role of hypotension in medullar ischemia and the place of magnetic resonance imaging (MRI) as a reliable diagnostic tool.
Case Report: Complete Remission of C1q Nephropathy Treated With a Single Low-Dose Rituximab, a Reality or Coincidence?
Authors: Rui Ma, Dengyan Wu, Zhiqin He, Qian Chang, Yonghong Yang
Journal: Front Pediatr (2021)
Keywords: b lymphocyte depletion, c1q nephropathy, complete remission, nephrotic syndrome, rituximab
MeSH terms: Case Reports

C1q nephropathy is a glomerulopathy that is characterized by large amount of C1q deposits in the glomerular mesangium. It is a diagnosis of exclusion after ruling out systemic lupus erythematosus and membranoproliferative glomerulonephritis by systemic and serological examination. The pathogenesis of C1q nephropathy is unclear. In addition, there is very little generalizability in the treatment and prognosis for pediatric C1q nephropathy due to diversities in clinical manifestations and pathological types. Rituximab is a human/mouse chimeric monoclonal antibody against CD20, which is primarily used for treating lymphomas and, most recently, has been used to treat certain kidney diseases including C1q nephropathy. In this report, we used one quarter of the typical dose of rituximab for lymphoma treatment to achieve complete remission in a C1q nephropathy patient, significantly reducing deposition of immune complexes and glomerular damage. This case indicates that dosage reconsiderations may be necessary for rituximab in treatment of pediatric C1q nephropathy.
Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay
Authors: Xuemei Zhao, Bingbing Wu, Huiyao Chen, Ping Zhang, Yanyan Qian, Xiaomin Peng, Xinran Dong, Yaqiong Wang, Gang Li, Chenbin Dong, Huijun Wang
Journal: Front Pediatr (2022)
Keywords: bcl11b, craniosynostosis, developmental delay, pediatrics, truncating variation
MeSH terms: Case Reports

Craniosynostosis is a premature fusion of cranial sutures, resulting in abnormally shaped skull and brain development disorder. The description of craniosynostosis in patients with BCL11B mutations is rare. Here, we firstly report a 25-month-old Chinese boy with a novel frameshift variant in BCL11B gene. The patient was identified c.2346_2361del by whole-exome sequencing and was confirmed to be de novo by parental Sanger sequencing. This patient presented clinical phenotype of craniosynostosis as well as global developmental delay. He had a small mouth, thin upper lip, arched eyebrows, a long philtrum, midfacial hypoplasia and craniosynostosis. Brain MRI showed brain extracerebral interval and myelination changes, and brain CT with 3D reconstruction showed multi-craniosynostosis. Our study expands the clinical phenotypes of patients with BCL11B gene mutation, and our findings may help guide clinical treatment and family genetic counseling.
Decentered Individualized Sphero-Cylindrical (DISC) Ablation and Corneal Crosslinking in Patient with Progressive Keratoconus
Authors: Igor Knezović, Sara Djurić
Journal: Case Rep Ophthalmol Med (2022)
MeSH terms: Case Reports

Aim:
To report a new method with which we have treated a 29-year-old patient with keratoconus and progressive bilateral visual loss during the past few years.
Methods:
The patient underwent inferotemporal decentered individualized sphero-cylindrical (DISC) ablation and crosslinking (CXL) of the left eye. After administration of topical anesthetic, the patient was subjected to phototherapeutic keratectomy (PTK) laser ablation of the central 7.0 mm optical zone with 50 μm depth of epithelial ablation. To avoid the possible outcome of corneal haze, 0.02% mitomycin C (MMC) was applied to the stromal surface for 40 seconds. Riboflavin 0.1% solution was then administered topically every 2 minutes for a 30-minute period followed by 5 cycles of corneal crosslinking, radiating with UV-A at 3 mW/cm2, for a duration of 5 minutes.
Results:
17 months postoperative, there was an impressive improvement in uncorrected distance visual acuity, and the cornea became more regular. Results of Fourier's analysis imply a drop of irregularity (-28.6% two months and -63% seventeen months postoperative), Zernike analysis revealed a decrease of higher order aberrations (spheric and comatic aberrations), and corneal index values in the 8 mm zone (IHD, ISV, and IVA) became lower, compared to the preoperative values.
Conclusion:
It is possible to obtain better outcome of visual function with DISC ablation through an individual approach compared to CXL solely. This approach might be a promising strategy in retrieving impaired vision in patients suffering from keratoconus.
Delayed spontaneous closure of traumatic macular hole in a 66-year-old patient - role of optical coherence tomography follow-up
Authors: Piergiacomo Grassi, Alberto Salicone
Journal: GMS Ophthalmol Cases (2020)
Keywords: epiretinal membrane, macular hole, optical coherence tomography, pars-plana vitrectomy, spontaneous closure, traumatic macular hole
MeSH terms: Case Reports

Objective: To report a case of delayed spontaneous closure of traumatic macular hole at 5 months in a 66-year-old man. Traumatic macular holes generally do not close spontaneously after 4 months and over 30 years of age. Methods: A 66-year-old man presented with central blurred vision and metamorphopsia in his right eye for 3 weeks after previous ocular blunt trauma occurring 2 months earlier. Best corrected visual acuity was 6/36 in his right eye, fundus examination and OCT revealed right traumatic macular hole. Results: 4 weeks later, best corrected visual acuity was 6/18, OCT showed initial reattachment of traumatic macular hole margins. 8 weeks later, best corrected visual acuity improved to 6/9, OCT showed almost complete reattachment of the margins, residual outer retinal defect being still present. At 12 weeks after initial presentation, best corrected visual acuity was 6/6, OCT showed normal neuroretinal profile. Conclusion: Clinical monitoring of traumatic macular holes might be performed up to 5 months even in patients >30 years before considering surgery.
Development of Spinal Tuberculosis in an Adolescent With Crohn's Disease After Infliximab Therapy: A Case Report With Literature Review
Authors: Jae Hoon Jung, Sujin Choi, Youra Kang, Dae-Chul Cho, So Mi Lee, Tae In Park, Byung-Ho Choe, Dongsub Kim, Ben Kang
Journal: Front Pediatr (2022)
Keywords: crohn's disease, pott's disease, infliximab, tuberculosis, tumor necrosis factor, vedolizumab
MeSH terms: Case Reports

Introduction:
Tuberculosis (TB) spondylitis, also known as Pott's disease, is a severe form of extrapulmonary TB. Infliximab treatment for Crohn's disease (CD) patients increases the risk of TB, and is likely to increase the risk of TB spondylitis as well.
Case presentation:
We report a rare case of TB spondylitis development in a 16-year-old female with CD. She had a close household contact of active pulmonary TB and received contact investigation. She was diagnosed with latent TB 1 month before the diagnosis of CD, and had started a latent TB treatment regimen with isoniazid for 9 months. At 5 months from the start of latent TB treatment, infliximab was started. Approximately 1 year after infliximab treatment, her infusion interval was shortened from every 8 weeks to every 4 weeks owing to secondary loss of response due to nonimmunogenic pharmacokinetic failure. One month later, miliary TB developed and infliximab was stopped. She received a miliary TB treatment regimen for 6 months, curing the disease. Three months later, spinal TB was incidentally detected on abdominal computed tomography. She received a TB treatment regimen for 12 months, curing spinal TB. Currently, she is receiving vedolizumab to treat CD and is in clinical remission. Although this patient has sufficiently been treated at each stage of TB development, particularly for latent TB and miliary TB, TB spondylitis still developed.
Conclusion:
Considering that TB spondylitis developed despite sufficient treatment at each stage, pediatric gastroenterologists should stay cautious when using anti-tumor necrosis factor agents in patients with inflammatory bowel disease with a history of latent TB.
Verrucous Carcinoma of Buccal Mucosa in Female: A Rare Case Report of Traumatic Tooth Origin
Authors: V Keerthi Narayan
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

Verrucous carcinoma or Ackermann's tumor is considered a low-grade variant of squamous cell carcinoma frequently presenting at the oral mucosa and skin. Oral verrucous carcinoma clinically presents as a proliferative or cauliflower-like lesion or as ulceroproliferative lesion on the buccal mucosa followed by other sites such as the gingiva, tongue, and hard palate. Tobacco in both smoking and smokeless form, alcohol, and opportunist viral infections are the most associated etiologies in most of the reported literature cases. Here, in this paper, we discuss a rare case scenario of a 52-year-old female diagnosed with verrucous carcinoma of the left buccal mucosa with constant traumatic irritation caused by tooth as etiology for the occurrence of lesion, though verrucous carcinoma is described as a benign lesion with minimum aggressive potential but long-standing cases have shown transformation into squamous cell carcinoma. Therefore, early diagnosis and surgical excision of the lesion are the most appropriate treatment modality of verrucous carcinoma.
A Case Report: Genetically Distinct Severe Acute Respiratory Syndrome Coronavirus-2 Variant Causing Reinfection
Authors: Mohammad Enayet Hossain, Md Mahfuzur Rahman, Md Shaheen Alam, Monira Sarmin, Yeasir Karim, Mehedi Hasan, Ananya Ferdous Hoque, Md Mahmudul Hasan, Mohammed Ziaur Rahman, Mohammod Jobayer Chisti, Mustafizur Rahman
Journal: Front Microbiol (2021)
Keywords: bangladesh, covid-19, sars-cov-2, reinfection, variant
MeSH terms: Case Reports

Background: The emergence of novel variants has been a great deal of international concern since the recently published data suggest that previous infections with SARS-CoV-2 may not protect an individual from new variants. We report a patient had two distinct episodes of COVID-19 with different variants of SARS-CoV-2. Methods: The nasopharyngeal samples collected from the two episodes were subjected to whole-genome sequencing and comparative genome analysis. Results: The first infection presented with mild symptoms, while the second infection presented with severe outcomes which occurred 74 days after the patient recovered from the first episode. He had elevated C-reactive protein, ferritin, and bilateral consolidation as a sign of acute infection. Genome analysis revealed that the strains from the first and second episodes belonged to two distinct Nexstrain clades 20B and 20I and Pangolin lineages B.1.1.25 and B.1.1.7, respectively. A total of 36 mutations were observed in the episode-2 strain when compared with the reference strain Wuhan-Hu-1. Among them, eight mutations were identified in the receptor-binding domain (RBD). Conclusion: Our findings concern whether the immunity acquired by natural infection or mass vaccination could confer adequate protection against the constantly evolving SARS-CoV-2. Therefore, continuous monitoring of genetic variations of SARS-CoV-2 strains is crucial for interventions such as vaccine and drug designs, treatment using monoclonal antibodies, and patient management.
Chronic and Asymptomatic Diffuse Alveolar Haemorrhage with Microscopic Polyangiitis: A Case Report and Review of the Literature
Authors: Hiroki Tashiro, Koichiro Takahashi, Hironori Sadamatsu, Masaru Uchida, Shinya Kimura, Naoko Sueoka-Aragane
Journal: Case Rep Rheumatol (2016)

Diffuse alveolar haemorrhage (DAH) is one of the major causes of death in microscopic polyangiitis (MPA) patients, because of acute respiratory failure with various respiratory symptoms. We, herein, present a case of chronic and asymptomatic DAH in a patient with MPA who was diagnosed by fibreoptic bronchoscopy. The patient showed localized reticular shadows, without any respiratory symptoms, and absence of inflammatory reactions, such as fever and CRP elevation, which is atypical for DAH. Three months after appearance of the lung abnormalities, DAH with MPA was diagnosed by fibreoptic bronchoscopy. She was initially treated with only corticosteroids and has thereafter been maintained with corticosteroids and azathioprine without relapse to date. We reviewed the literature for similar cases and opined that physicians should perform fibreoptic bronchoscopy in MPA patients with chronic lung abnormalities and anaemia to identify DAH, even if the patients show no respiratory symptoms and in the absence of inflammatory reactions.
De novo autoimmune hepatitis following liver transplantation for primary biliary cirrhosis: an unusual cause of late grafts dysfunction
Authors: Rym Ennaifer, Hend Ayadi, Haifa Romdhane, Meriem Cheikh, Hafedh Mestiri, Taher Khalfallah, Najet Bel Hadj
Journal: Pan Afr Med J (2015)
Keywords: primary biliary cirrhosis, de novo autoimmune hepatitis, liver transplantation
MeSH terms: Hepatitis, Autoimmune / etiology, Liver Cirrhosis, Biliary / surgery, Liver Transplantation, Case Reports, Female, Glucocorticoids / therapeutic use, Hepatitis, Autoimmune / diagnosis, Hepatitis, Autoimmune / drug therapy, Humans, Liver Function Tests, Middle Aged, Prednisolone / therapeutic use, Glucocorticoids, Prednisolone

De novo autoimmune hepatitis (AIH) is a rare disorder first described in 1998. It occurs in patients who underwent liver transplantation for a different etiology. We present the case of a 56-year-old woman who was diagnosed with primary biliary cirrhosis and had liver transplantation for refractory pruritis. Seven years after transplantation, she presented alterations in the hepatic profile with hypertransaminasemia, elevated alkaline phosphatase and gamma-glutamyl-transferase. Her liver functions test also showed elevated IgG levels. Serum autoantibodies were negative except for antimitochondrial antibodies. Histological findings indicated features of AIH without bile duct damage or loss. She had a pretreatment AIH score of 13 points and a post treatment score of 15 points according to the International AIH Group. The patient was treated effectively with prednisolone and her liver function and globulin levels rapidly returned to normal.
Congenital Urethral Fistula: A Case Report and Literature Review
Authors: Aamer Alghamlas, Frédéric Auber, Yann Chaussy
Journal: Case Rep Urol (2020)
MeSH terms: Case Reports

Male congenital urethral fistula is an extremely rare condition. It is characterized by an abnormal opening of the ventral aspect of the penis. We report the case of a 1-month-old boy with congenital urethral fistula. We will describe the surgical technique, postoperative results, and literature review.
Cognitive Biases in the Era of COVID-19 : A Case of Clostridium sporogenes Bacteremia in a Patient with Small Bowel Obstruction
Authors: Marc J Vecchio, Matthew Jankowich, Hassan Qadir, Melissa Gaitanis, Anupama Menon
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

Clostridium sporogenes bacteremia in immunocompetent patients is rare with very few reported cases in the literature. We present a case of Clostridium sporogenes bacteremia in an 81-year-old immunocompetent man with small bowel obstruction and hypoxemia during the COVID-19 pandemic. Routine monitoring of prognostic inflammatory markers for COVID-19 created a unique challenge in the management of our patient who developed sepsis with respiratory symptoms. Upon review, bacteremia from Clostridium sporogenes was associated with high mortality rates and could produce similar elevations in the inflammatory markers observed in COVID-19 pneumonia. Further, we reviewed the cognitive biases encountered when monitoring these inflammatory markers during the management of our patient with Clostridium sporogenes bacteremia, who was initially thought to have COVID-19 disease. While our patient ultimately tested negative for COVID-19, early administration of empiric antimicrobial therapy without source control failed to prevent clinical decompensation.
Non-Compaction Cardiomyopathy and Multiple Sclerosis: Associated or Independent Diseases? A Case Report
Authors: Juan Manuel Muñoz Moreno, Carlos Holguin Palacios, Carlos Lobato Jeri, Sebastian Reyes Villanes, Wilson Peralta Ramos, Miguel Reyes Rocha
Journal: Front Cardiovasc Med (2022)
Keywords: heart failure, left ventricular dysfunction, multiple sclerosis, myocardium, non-compaction cardiomyopathy
MeSH terms: Case Reports

Non-compaction cardiomyopathy (NCCM) is associated with neuromuscular disorders; however, there has been little investigation on its association with other neurological diseases, such as multiple sclerosis. We present the case of a 46-year-old woman with a history of multiple sclerosis who developed heart failure and was diagnosed with non-compaction cardiomyopathy.
Descemet stripping endothelial keratoplasty in a patient with keratoglobus and chronic hydrops secondary to a spontaneous descemet membrane tear
Authors: Anton M Kolomeyer, David S Chu
Journal: Case Rep Ophthalmol Med (2013)

Purpose. To report the use of Descemet stripping endothelial keratoplasty (DSEK) in a patient with keratoglobus and chronic hydrops. Case Report. We describe a case of a 28-year-old man with bilateral keratoglobus and chronic hydrops in the right eye secondary to spontaneous Descemet membrane tear. The patient presented with finger counting (CF) vision, itching, foreign body sensation, and severe photophobia in the right eye. Peripheral corneal thinning with central corneal protrusion and Descemet membrane tear spanning from 4 to 7 o'clock was noted on slit lamp examination. The right eye cornea was 15 mm in the horizontal diameter. After a 5.5-month loss to follow-up, the patient presented with discomfort, photophobia, decreasing vision, and tearing in the right eye. Vision was 20/60 with pinhole. 360-degree peripheral corneal ectasia with mild neovascularization and hydrops was present. Over the next few months, the patient complained of photophobia and intermittent eye pain. His vision deteriorated to CF, he developed corneal scarring with bullae, and a DSEK was performed. Eight months postoperatively, best-corrected vision improved to 20/30, cornea was clear, and the DSEK graft was stable. Conclusions. Nonresolving hydrops secondary to Descemet membrane tear in a patient with keratoglobus may result in permanent endothelial cell damage and scar formation. This may be successfully treated with DSEK.
Hemopericardium and Cardiac Tamponade Secondary to Migrated Inferior Vena Cava Filter
Authors: Jeet J Mehta, Benjamin DeMarco, John P Vavalle, Khola S Tahir, Joseph S Rossi
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

A 73-year-old female presented with cardiogenic shock secondary to hemopericardium and cardiac tamponade. Imaging revealed two fractured legs of an inferior vena cava filter, with one leg within the anterior myocardium of the right ventricle and another penetrating the inferior septum through the middle cardiac vein. Hemopericardium and cardiac tamponade were treated with pericardiocentesis. A multidisciplinary meeting resulted in deferring further action against the embedded fractured legs of the filter with consideration of the patient's age and comorbidities. This case report should alert clinicians to think about hemopericardium as a cause of cardiac tamponade and cardiogenic shock in a patient with a history of an inferior vena cava filter placement.