OpenMed/multicare-articles huggingface dataset:
Spontaneous coronary artery dissection and atherosclerosis in a young man with systemic lupus erythematosus: A case report and literature review
Authors: Hongbo Huang, Xiaojuan Ma, Linjie Xu, Xin Wang, Dazhuo Shi, Fuhai Zhao, Ying Zhang
Journal: Front Cardiovasc Med (2022)
Keywords: atherosclerosis, case report, percutaneous coronary intervention, spontaneous coronary artery dissection, systemic lupus erythematosus
MeSH terms: Case Reports

Background:
Spontaneous coronary artery dissection (SCAD) is a rare coronary artery disease that frequently occurs in young, female patients without risk factors, and conservative treatment is often recommended for its management. The patient reported here is a male patient with systemic lupus erythematosus (SLE).
Case summary:
We described a 28-year-old man with SLE who presented with acute ST-segment elevation myocardial infarction (STEMI), and was diagnosed with SCAD through a long dissection of the left anterior descending branch (LAD) by coronary angiography. The patient was treated with percutaneous coronary intervention (PCI) with stent implantation. Ten years later, he developed in-stent stenosis and other coronary atherosclerosis and was retreated with PCIs. Based on this case and according to the literature review, the existing treatment and prognosis of SLE with spontaneous coronary artery dissection and atherosclerosis are discussed.
Conclusion:
Cardiovascular complications should be considered in patients with systemic lupus erythematosus, although they may not initially be atherosclerotic diseases. Attention should be paid to distinguish spontaneous coronary dissection in order to minimize missed or delayed diagnoses and take appropriate managements, as well as the development of atherosclerosis in SLE patients, and timely intervention has a better prognosis.
Case Report: A Missense Mutation in Dyskeratosis Congenita 1 Leads to a Benign Form of Dyskeratosis Congenita Syndrome With the Mucocutaneous Triad
Authors: Liqing Wang, Jianwei Li, Qiuhong Xiong, Yong-An Zhou, Ping Li, Changxin Wu
Journal: Front Pediatr (2022)
Keywords: dkc1, c1156g > a, dyskeratosis congenita syndrome, missense mutation, pala386thr
MeSH terms: Case Reports

Background:
Dyskeratosis congenita (DC) is a rare inheritable disorder characterized by bone marrow failure and mucocutaneous triad (reticular skin pigmentation, nail dystrophy, and oral leukoplakia). Dyskeratosis congenita 1 (DKC1) is responsible for 4.6% of the DC with an X-linked inheritance pattern. Almost 70 DKC1 variations causing DC have been reported in the Human Gene Mutation Database.
Results:
Here we described a 14-year-old boy in a Chinese family with a phenotype of abnormal skin pigmentation on the neck, oral leukoplakia, and nail dysplasia in his hands and feet. Genetic analysis and sequencing revealed hemizygosity for a recurrent missense mutation c.1156G > A (p.Ala386Thr) in DKC1 gene. The heterozygous mutation (c.1156G > A) from his mother and wild-type sequence from his father were obtained in the same site of DKC1. This mutation was determined as disease causing based on silico software, but the pathological phenotypes of the proband were milder than previously reported at this position (HGMDCM060959). Homology modeling revealed that the altered amino acid was located near the PUA domain, which might affect the affinity for RNA binding.
Conclusion:
This DKC1 mutation (c.1156G > A, p.Ala386Thr) was first reported in a Chinese family with mucocutaneous triad phenotype. Our study reveals the pathogenesis of DKC1 c.1156G > A mutation to DC with a benign phenotype, which expands the disease variation database, the understanding of genotype-phenotype correlations, and facilitates the clinical diagnosis of DC in China.
Development of ST Elevation Myocardial Infarction and Atrial Fibrillation after an Electrical Injury
Authors: Erdal Gursul, Serdar Bayata, Ercan Aksit, Basak Ugurlu
Journal: Case Rep Emerg Med (2015)

Electrical energy is a type of energy that is commonly used in daily life. Ventricular premature beats, ventricular tachycardia, ventricular fibrillation, atrial tachycardia, atrial fibrillation, bundle branch blocks, and AV block are arrhythmic complications that are encountered in case of electric shocks. Myocardial infarction is one of the rarely seen complications of electric shocks yet it has fatal outcomes. Coronary arteries were detected to be normal in most of the patients who had myocardial infarction following an electric shock. So, etiology of myocardial infarction is thought to be unrelated to coronary atherosclerosis in these cases. Coronary artery vasospasm is thought to be the primary etiological cause. In our case report, we presented a patient who developed ST elevation MI with atrial fibrillation after an electric shock.
Optical Coherence Tomography of Spontaneous Basilar Artery Dissection in a Patient With Acute Ischemic Stroke
Authors: Peng Gao, Liqiang Gui, Bin Yang, Timo Krings, Liqun Jiao
Journal: Front Neurol (2018)
Keywords: acute ischemic stroke, feasibility, imaging diagnosis, intravascular optical coherence tomography, safety, spontaneous intracranial arterial dissection
MeSH terms: Case Reports

The diagnosis of intracranial arterial dissection (IAD) may be challenging and multimodal imaging techniques are often needed to confirm the diagnosis. Previous studies have based their criteria for diagnosis of IAD on conventional angiography, computed tomography, or magnetic resonance imaging. We report a case with acute ischemic stroke due to spontaneous basilar artery dissection in which intravascular optical coherence tomography (OCT) was used to show features of IAD. A 59-years-old woman presented with symptoms of acute ischemic stroke. Thrombosis related to basilar artery (BA) stenosis was assumed on conventional angiography; however, no clot was retrieved after mechanical thrombectomy (MT) and a restored BA caliber was observed after a rescue recanalization with the detachment of a self-expanding stent was performed. Spontaneous IAD was suspected; however, angiographic findings were ambiguous for confirming IAD. The patient remained symptom-free until 18-months follow-up. At this point, angiography showed restenosis at the proximal tapered length of the stent. In vivo OCT was performed to assess the pathological changes of the restenosis and confirm the diagnosis of IAD.OCT revealed BA dissection with the presence of remnant transverse flap, double lumen and mural hematoma. Imaging at multiple levels identified intimal disruption that originated in the right vertebral artery and extended distally to the BA. The use of intravascular imaging with OCT enabled the accurate diagnosis of IAD. Care should be taken as the procedure may add additional risks to the patient. Future studies are needed to validate the safety of OCT in IAD.
Corneal Transplant Infection due to Alternaria alternata: A Case Report
Authors: Vasileios Konidaris, Andreana Mersinoglou, Timoleon-Achilleas Vyzantiadis, Domniki Papadopoulou, Kostas G Boboridis, Panagiotis Ekonomidis
Journal: Case Rep Ophthalmol Med (2013)

Purpose. To report a case of Alternaria alternata keratitis in a patient with a corneal transplant in her right eye due to bullous pseudophakic keratopathy. Methods. A 66-year-old female underwent a full-thickness keratoplasty in her right eye due to bullous pseudophakic keratopathy. Three weeks after keratoplasty, epithelial edema and a stromal opacity with an infiltrate and development of peripheral corneal opacities appeared. The diagnosis of Alternaria alternata keratitis was made. Results. The patient underwent a second keratoplasty, due to the corneal melting as a result of the fungal infection. She was also given combined antifungal treatment locally and systematically. Conclusion. Corneal transplantation alone would not have been sufficient to keep the fungus in the anterior portion of the eye. Combined antifungal treatment, locally and systematically, was important in attempting to prevent the further spread of the fungus to the interior of the eye. To our knowledge, the case presented here is only the second one in the literature concerning a keratomycosis due to Alternaria alternata corneal transplant infection.
Pulmonary vein occlusion and lung infarction complicating non-treated moderate single pulmonary vein stenosis after radiofrequency ablation of atrial fibrillation
Authors: Khalid M Alfudhili, Hesham H Hassan, Hesham Abdullah, Mohsen Sherbiny
Journal: BJR Case Rep (2017)
MeSH terms: Case Reports

Pulmonary vein (PV) radiofrequency ablation (RFA) is an effective, curative technique for selected group of patients with atrial fibrillation (AF) refractory to antiarrhythmic drugs. However, pulmonary vein stenosis (PVS) is a potential complication which may present clinically as non-specific respiratory symptoms that often under-recognized or misdiagnosed leading to progression of low-grade stenosis to complete occlusion if not treated with timely intervention.
Awake Craniotomy in a Child: Assessment of Eligibility with a Simulated Theatre Experience
Authors: Jason Labuschagne, Clover-Ann Lee, Denis Mutyaba, Tatenda Mbanje, Cynthia Sibanda
Journal: Case Rep Anesthesiol (2020)
MeSH terms: Case Reports

Background:
Awake craniotomy is a useful surgical approach to identify and preserve eloquent areas during tumour resection, during surgery for arteriovenous malformation resections and for resective epilepsy surgery. With decreasing age, a child's ability to cooperate and mange an awake craniotomy becomes increasingly relevant. Preoperative screening is essential to identify the child who can undergo the procedure safely. Case Description. A 11-year-old female patient presented with a tumour in her right motor cortex, presumed to be a dysembryoplastic neuroepithelial tumour (DNET). We had concerns regarding the feasibility of performing awake surgery in this patient as psychological testing revealed easy distractibility and an inability to follow commands repetitively. We devised a simulated surgical experience to assess her ability to manage such a procedure. During the simulated theatre experience, attempts were made to replicate the actual theatre experience as closely as possible. The patient was dressed in theatre attire and brought into the theatre on a theatre trolley. She was then transferred onto the theatre bed and positioned in the same manner as she would be for the actual surgery. Her head was placed on a horseshoe headrest, and she was made to lie in a semilateral position, as required for the surgery. A blood pressure cuff, pulse oximeter, nasal cannula with oxygen flow, and calf pumps were applied. She was then draped precisely as she would have been for the procedure. Theatre lighting was set as it would be for the surgical case. The application of the monitoring devices, nasal cannula, and draping was meant not only to prepare her for the procedure but to induce a mild degree of stress such that we could assess the child's coping skills and ability to undergo the procedure. The child performed well throughout the simulated run, and surgery was thus offered. An asleep-awake-asleep technique was planned and employed for surgical removal of the tumour. Cortical and subcortical mapping was used to identify the eloquent tissue. Throughout the procedure, the child was cooperative and anxiety free. Follow-up MRI revealed gross total removal of the lesion.
Conclusion:
A simulated theatre experience allowed us to accurately determine that this young patient, despite relative contraindications, was indeed eligible for awake surgery. We will continue to use this technique for all our young patients in assessing their eligibility for these procedures.
Perforation of the urinary bladder caused by transurethral insertion of a pencil for the purpose of masturbation in a 29-year-old female
Authors: Athanasios Bantis, Petros Sountoulides, Christos Kalaitzis, Stelios Giannakopoulos, Eleni Agelonidou, Soultana Foutzitzi, Stavros Touloupidis
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

The urethra is a usual site of introduction of foreign bodies for autoerotic stimulation. We present an unusual case of bladder perforation caused by foreign body that was self-inserted in the urethra and consequently slipped inside the bladder in a 29-year-old female patient with psychiatric disease. The patient was referred to our department for macroscopic hematuria and abdominal pain. Imaging studies revealed the presence of a foreign body in the pelvic area which had perforated the left lateral wall of the bladder. The foreign body was removed via open cystotomy. In psychiatric patients hematuria and pelvic pain may result from insertion of a foreign body in the bladder usually during masturbation.
Mantle cell lymphoma mimicking rectal carcinoma
Authors: Engin Kelkitli, Hilmi Atay, Levent Yıldız, Ahmet Bektaş, Mehmet Turgut
Journal: Case Rep Hematol (2014)

Mantle cell lymphoma (MCL) is a mature B-cell non-Hodgkin lymphoma. After the (11;14) translocation was identified as its constant finding in 1992, MCL was recognized as a separate subgroup of non-Hodgkin lymphoma (NHL). In MCL, extranodal involvement may be observed in the bone marrow, the spleen, the liver, and the gastrointestinal system (GIS). Cases of MCL that present with a massive and solitary rectal mass are rare in the literature. In this case report, our aim was to present an MCL patient with a rarely observed solitary rectal involvement mimicking rectal carcinoma and to discuss treatment options for this patient.
A Case of Multiple Phleboliths on the Medial Side of the Right Mandible
Authors: Shinichi Sato, Masato Takahashi, Tetsu Takahashi
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

A 66-year-old female patient was admitted to the orthopedic department due to a left femoral neck fracture. She received perioperative oral management prior to femoral head replacement. Laboratory blood tests indicated an elevated D-dimer level, which suggested the presence of a venous malformation. Computed tomography, magnetic resonance imaging, and short TI inversion recovery indicated the presence of multiple phleboliths medial to the right mandibular ramus. No swelling, redness, or salivary colic pain was observed. Owing to the absence of clinical symptoms, the patient elected to undergo observation of the lesion, as opposed to surgical treatment.
Alopecia Universalis following Alemtuzumab Treatment in Multiple Sclerosis: A Barely Recognized Manifestation of Secondary Autoimmunity-Report of a Case and Review of the Literature
Authors: Julian Zimmermann, Timo Buhl, Marcus Müller
Journal: Front Neurol (2017)
Keywords: adverse events, alemtuzumab, alopecia areata, alopecia totalis, alopecia universalis, autoimmunity, multiple sclerosis, treatment safety
MeSH terms: Case Reports

Secondary autoimmunity is the most frequent adverse event occurring in almost every other alemtuzumab-treated multiple sclerosis patient. We report a case of a patient with relapsing-remitting multiple sclerosis who reported smooth, circular areas of complete hair loss on both thighs 6 months after the second treatment cycle with alemtuzumab. The patient was diagnosed as having alopecia areata (AA). Within 3 months, AA progressed to complete loss of all body hair (alopecia universalis). Current literature rarely connects alemtuzumab with the onset of alopecia of autoimmune origin. Here, we report a little-noticed autoimmune disease affecting the skin, very likely being associated with alemtuzumab. We emphasize the necessity of careful clinical surveillance of alemtuzumab-treated patients for yet undescribed autoimmune diseases.
Complicating factors in the management of advanced Bouveret syndrome in frail and medically complex patients: Case report and discussion of pathophysiology
Authors: Zachary Obinna Enumah, Evan G Wong, Alistair J Kent
Journal: Int J Surg Case Rep (2020)
Keywords: biliary disease, cholecystostomy, enterolithiasis, gallstone ileus, gastric outlet obstruction, geriatrics
MeSH terms: Case Reports

Introduction:
Bouveret Syndrome is a rare but important variant of gallstone ileus with high potential for morbidity and mortality. Bouveret syndrome is a complication of gallstone disease resulting from chronic inflammation and subsequent fistulization between the gallbladder and duodenum or stomach with subsequent impaction of the stone in the proximal GI tract. Here we present a case in an elderly man with moderate medical comorbidities.
Presentation of case:
An elderly man presented to the hospital with symptoms of gastrointestinal obstruction. Upon further diagnostic work-up, he was noted to have a 5.8 cm gallstone impacted in his proximal GI tract and thus diagnosed with a rare variant of gallstone ileus-Bouveret syndrome.
Discussion:
The therapeutic goal in approaching Bouveret syndrome is removal of the stone and improvement in obstruction and cholangitis. This may be accomplished with surgery or endoscopic therapy-although this may be less effective. Bouveret syndrome may have high morbidity.
Conclusion:
Bouveret syndrome is a rare but potentially serious syndrome that should be managed accordingly. It should remain on the differential diagnosis of an elderly patient presenting with gastrointestinal obstructions, particularly if there is a history of gallstone disease and concern for proximal GI obstruction.
Case Report: Novel Likely Pathogenic ACTN2 Variant Causing Heterogeneous Phenotype in a Korean Family With Left Ventricular Non-compaction
Authors: Joonhong Park, Yong Gon Cho, Ha Wook Park, Jung Sun Cho
Journal: Front Pediatr (2021)
Keywords: actn2 variant, cardiac magnetic resonance imaging, exome sequencing, heterogeneous phenotype, left ventricular non-compaction
MeSH terms: Case Reports

Left ventricular non-compaction (LVNC) is a very rare primary cardiomyopathy with a genetic etiology, resulting from the failure of myocardial development during embryogenesis, and it carries a high risk of left ventricular dysfunction, thromboembolic phenomenon, and malignant arrhythmias. Here, we report the first case of familial LVNC in Korea, caused by a novel ACTN2 missense variant. We performed duo exome sequencing (ES) to examine the genome of the proband and his father. A 15-year-old boy was admitted for the evaluation of exertional dyspnea for 2 weeks. He was diagnosed with LVNC with a dilated cardiomyopathy phenotype [left ventricular end-diastolic dimension 60 mm, interventricular septal dimension 8.2 mm by transthoracic echocardiography (TTE)]. For the screening of familial cardiomyopathy, TTE and cardiac magnetic resonance imaging (cMRI) were performed, which revealed hypertrophic and isolated LVNC in the proband's father and sister, respectively. In particular, the cMRI revealed dense hypertrabeculation with focal aneurysmal changes in the apical septal wall in the proband's father. ES of the father-son duo identified a novel heterozygous c.668T>C variant of the ACTN2 gene (NM_001103.3:c.668T>C, p.Leu223Pro; no rsID) as the candidate cause of autosomal dominant LVNC. Sanger sequencing confirmed this novel variant in the proband, his father, and sister, but not in the proband's grandmother. Even within families harboring the same variant, a variable risk of adverse outcomes is common. Therefore, familial screening for patients with LVNC associated with ACTN2 variant should be performed for early detection of the LVNC phenotype associated with poor outcomes, such as dilated LVNC.
Small cell lung cancer transformation and tumor heterogeneity after sequential targeted therapy and immunotherapy in EGFR-mutant non-small cell lung cancer: A case report
Authors: Meng-Hang Yang, Jia Yu, Chen-Lei Cai, Wei Li
Journal: Front Oncol (2022)
Keywords: case report, histologic transformation, immunotherapy, targeted therapy, tumor heterogeneity
MeSH terms: Case Reports

Background:
Histological transformation from non-small cell lung cancer (NSCLC) to small cell lung cancer (SCLC) is one of mechanisms of the acquired resistance to epidermal growth factor receptor (EGFR)-tyrosine kinase inhibitors (TKI). However, SCLC transformation and tumor heterogeneity have never been reported in sequential targeted therapy and immunotherapy.
Case presentation:
Here, we described a patient with advanced EGFR-mutant NSCLC, who received erlotinib and underwent the resistance with EGFR T790M (-). The patient then received chemotherapy plus immunotherapy of programmed cell death 1 (PD-1) inhibitor, encountered progression with pathological transformation from NSCLC to SCLC that was overcome by chemotherapy of etoposide plus carboplatin (EC) with the main lesion significantly shrinking while metastatic nodules increasing. The pathology of the metastatic nodule showed NSCLC with EGFR T790M (+). Based on the tumor heterogeneity, EC chemotherapy combined with osimertinib was used, and patients responded well. The patient experienced four lung biopsies in all, which helped to provide the patient with precise treatment.
Conclusions:
This case suggested that SCLC transformation and tumor heterogeneity should be paid attention to when disease progression occurred in advanced NSCLC whether receiving targeted therapy or immunotherapy.
Fabrication of Zirconia-Reinforced Lithium Silicate Ceramic Restorations Using a Complete Digital Workflow
Authors: Sven Rinke, Matthias Rödiger, Dirk Ziebolz, Anne-Kathrin Schmidt
Journal: Case Rep Dent (2015)

This case report describes the fabrication of monolithic all-ceramic restorations using zirconia-reinforced lithium silicate (ZLS) ceramics. The use of powder-free intraoral scanner, generative fabrication technology of the working model, and CAD/CAM of the restorations in the dental laboratory allows a completely digitized workflow. The newly introduced ZLS ceramics offer a unique combination of fracture strength (>420 MPa), excellent optical properties, and optimum polishing characteristics, thus making them an interesting material option for monolithic restorations in the digital workflow.
Case report: Staphylococcus aureus endocarditis in 2 premature newborns
Authors: Marie Duperril, Stéphanie Rapin, Cécilia Vuillard, Isabelle Rayet, Hugues Patural
Journal: Medicine (Baltimore) (2019)
MeSH terms: Catheter-Related Infections / drug therapy, Cross Infection / drug therapy, Endocarditis, Bacterial / drug therapy, Staphylococcal Infections / drug therapy, Staphylococcus aureus, Case Reports, Anti-Bacterial Agents / therapeutic use, Catheter-Related Infections / microbiology, Cross Infection / microbiology, Endocarditis, Bacterial / microbiology, Humans, Infant, Newborn, Infant, Premature, Anti-Bacterial Agents

Rationale:
Neonatal infectious endocarditis (IE) in a healthy heart is rare. The infectious agents most frequently found in newborns are Staphylococcus aureus and fungi. Infection at the site of central intravenous catheter is generally thought to be the cause of this pathology.
Patient concerns:
We present 2 cases of premature newborns whose condition is evolving positively. They presented S aureus endocarditis during their first week of life.
Diagnosis:
Modified Duke diagnostic criteria-from clinical, echocardiogram and microbiological findings-based on those used for adults, can be used for children and newborns, but the very low prevalence of neonatal IE often delays diagnosis. Diagnosis on the basis of transthoracic heart ultrasound requires an extension report, given the very high embolic risk.
Intervention:
In the large majority of cases, long-term antibiotic therapy efficaciously treats the infection, although sometimes surgery is necessary. These 2 newborns needed only antibiotic therapy.
Outcome:
Despite the various complications, especially embolic, these 2 children are followed and are doing well.
Lessons:
Long-term pediatric heart monitoring combined with prophylactic antibiotics are essential, according to the European Society of Cardiology guidelines.