OpenMed/multicare-articles huggingface dataset:
Creutzfeldt-Jakob Disease: Analysis of Four Cases
Authors: Ali Al Balushi, Marshall W Meeks, Ghazala Hayat, Jafar Kafaie
Journal: Front Neurol (2016)
Keywords: creutzfeldt–jakob disease, dementia, neuropathology, prion protein, spongiform encephalopathy
MeSH terms: Case Reports

Background:
Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive neurodegenerative disease that almost always results in death in under a year from onset of symptoms. Here, we report four cases of CJD with different clinical presentations diagnosed at our institution over a 2-year period.
Cases:
The first patient is an 82-year-old woman who presented with depression, cognitive decline, and word-finding difficulty over 4 weeks. The patient deteriorated neurologically to akinetic mutism and death within 6 weeks of presentation. The second patient is a 54-year-old woman with liver cirrhosis who presented with confusion, ataxia, and multiple falls over 4 weeks. She was treated initially for hepatic encephalopathy but continued to progress to mutism, startle myoclonus, and obtundation. Death occurred within 4 weeks of presentation. The third patient is a 58-year-old woman who presented with an 8-week history of confusion, urinary incontinence, Parkinsonism, ataxia, and myoclonus. Death occurred within 2 months from presentation. The fourth patient is a 67-year-old man who presented with a 6-week history of headache, blurred vision, ataxia, and personality change and progressed to confusion, myoclonus, akinetic mutism, and obtundation. Death occurred within 3 weeks from presentation.
Conclusion:
These four cases highlight the varied possible clinical presentations of CJD and demonstrate the importance of considering CJD in patients with atypical presentations of rapidly progressive cognitive decline. To diagnose CJD, brain biopsy remains the gold standard. However, the presence of CSF protein 14-3-3, typical MRI findings and suggestive EEG abnormalities, all support the diagnosis.
Intensive Combination Immunotherapy and Neuroinflammation Resolution in a Child With Anti-PCA-1 (Yo) Paraneoplastic Syndrome and 2 Malignancies
Authors: Guillermo Philipps, Elizabeth D Tate, Michael R Pranzatelli
Journal: Child Neurol Open (2018)
Keywords: anna-1 (hu) syndrome, down syndrome, oms, pca-1 syndrome, acute lymphoblastic leukemia, adrenocortical carcinoma, cytosine arabinoside-induced ataxia, pediatric neuroinflammatory disorders, pediatric paraneoplastic cerebellar degeneration
MeSH terms: Case Reports

Paraneoplastic cerebellar degeneration is rare and noteworthy in children. In this 7-year-old, it was documented to have occurred within a year of ataxia presentation. The instigating cancer was stage III adrenal adenocarcinoma, remitted after surgical resection at age 2. When her severe ataxia progressed, neuroinflammation was characterized by high cerebrospinal fluid Purkinje cell cytoplasmic antibody type 1 titers, oligoclonal bands, and neurofilament light chain. The immunotherapy strategy was to replace IV methylprednisolone, which lowered Purkinje cell cytoplasmic antibody type 1 titers without clinical improvement, with induction of adrenocorticotropic hormone/intravenous immunoglobulin/rituximab (ACTH/IVIG/rituximab) combination immunotherapy, ACTH/dexamethasone transition, and intravenous immunoglobulin maintenance. She became self-ambulatory and cerebrospinal fluid inflammatory markers regressed. Down syndrome predisposed her to a second cancer, pre-B acute lymphoblastic leukemia, 4 years later. Despite reversible cytosine arabinoside-provoked cerebellar toxicity, the ataxia is stable on monthly intravenous immunoglobulin without relapse, now 5 years after initial diagnosis. This report illustrates the use of cerebrospinal fluid biomarkers to detect, target, and monitor neuroinflammation, and successful combinations of immunotherapy to better the quality of life.
Utility and First Clinical Application of Screening Embryos for Polygenic Disease Risk Reduction
Authors: Nathan R Treff, Jennifer Eccles, Lou Lello, Elan Bechor, Jeffrey Hsu, Kathryn Plunkett, Raymond Zimmerman, Bhavini Rana, Artem Samoilenko, Steven Hsu, Laurent C A M Tellier
Journal: Front Endocrinol (Lausanne) (2019)
Keywords: advanced maternal age, aneuploidy, polygenic risk score, preimplantation genetic testing, type 1 diabetes

For over 2 decades preimplantation genetic testing (PGT) has been in clinical use to reduce the risk of miscarriage and genetic disease in patients with advanced maternal age and risk of transmitting disease. Recently developed methods of genome-wide genotyping and machine learning algorithms now offer the ability to genotype embryos for polygenic disease risk with accuracy equivalent to adults. In addition, contemporary studies on adults indicate the ability to predict polygenic disorders with risk equivalent to monogenic disorders. Existing biobanks provide opportunities to model the clinical utility of polygenic disease risk reduction among sibling adults. Here, we provide a mathematical model for the use of embryo screening to reduce the risk of type 1 diabetes. Results indicate a 45-72% reduced risk with blinded genetic selection of one sibling. The first clinical case of polygenic risk scoring in human preimplantation embryos from patients with a family history of complex disease is reported. In addition to these data, several common and accepted practices place PGT for polygenic disease risk in the applicable context of contemporary reproductive medicine. In addition, prediction of risk for PCOS, endometriosis, and aneuploidy are of particular interest and relevance to patients with infertility and represent an important focus of future research on polygenic risk scoring in embryos.
Endoscopic transorbital eyelid approach for the removal of an extraconal cavernous venous malformation: Case report
Authors: Gianluca Lorenzo Fabozzi, Elena d'Avella, Matias Burroni, Antonio Romano, Luigi Maria Cavallo, Domenico Solari
Journal: Front Surg (2022)
Keywords: cavernous venous malformation, endoscopic eyelid approach, extraconal, orbit, protosis
MeSH terms: Case Reports

Cavernous venous malformations (CVMs) are one of the most common benign primary orbital lesions in adults and the second most frequent cause of unilateral proptosis. Extraconal location is extremely rare, representing a favorable condition as compared to intraconal, as lesions at this level often adhere to orbital muscles and optic nerve. Herein, we report the case of a 50-year-old patient, who came to our attention because of progressive painless right axial proptosis. Magnetic resonance images were consistent with an extraconal CVM, occupying the superior temporal compartment of the orbit. Successful removal of the lesion was achieved through an endoscopic transorbital eyelid approach. The present case confirms the safety and efficacy of the endoscopic transorbital eyelid approach.
Necrotizing Granulomatous Pneumocystis Infection Presenting as a Solitary Pulmonary Nodule: A Case Report and Review of the Literature
Authors: Mansur Assaad, Mohamed Swalih, Apurwa Karki
Journal: Case Rep Pulmonol (2022)
MeSH terms: Case Reports

Pneumocystis jirovecii is an opportunistic fungus that is classically associated with pneumonia in immunocompromised patients, particularly those with human immunodeficiency virus and acquired immunodeficiency syndrome (HIV/AIDS). However, this infection is now more commonly seen in those with malignancy, particularly lymphoproliferative disorders. Classic image findings with Pneumocystis jirovecii pneumonia (PJP) include bilateral ground-glass opacities with or without cyst formation. Up to 5% of patients with PJP may present with atypical image findings, specifically nodular opacities or masses thought to represent granulomatous inflammation. The differential diagnosis for a new solitary pulmonary nodule in an immunocompromised patient is broad. One must first rule out a recurrence of malignancy or new primary malignancy. In our patient's case, two nondiagnostic bronchoscopies with EBUS-TBNA eventually led to a surgical resection, which revealed a diagnosis of nodular necrotizing granulomatous Pneumocystis jirovecii. The diagnostic yield from EBUS is not well established, and most cases require surgical biopsy for definitive diagnosis. Further data regarding the use of EBUS-TBNA in diagnosing granulomatous PJP is needed.
Case Report: Management Approach and Use of Extracorporeal Membrane Oxygenation for Diffuse Alveolar Hemorrhage After Pediatric Hematopoietic Cell Transplant
Authors: Kimberly Fan, Caitlin Hurley, Michael J McNeil, Asya Agulnik, Sara Federico, Amr Qudeimat, Arun Saini, Jennifer McArthur, Ronald Ray Morrison, Hitesh Sandhu, Samir Shah, Saad Ghafoor
Journal: Front Pediatr (2021)
Keywords: diffuse alveolar hemorrhage (dah), extracorporeal life support (ecls), extracorporeal mebrane oxygenation, hematopoitic stem cell transplantation, pediatric acute respiratory distress syndrome
MeSH terms: Case Reports

Introduction: Diffuse alveolar hemorrhage (DAH) is an early pulmonary complication of hematopoietic cell transplantation (HCT) associated with severe hypoxemic respiratory failure and mortality. Extracorporeal membrane oxygenation (ECMO) support is often used for respiratory failure refractory to conventional interventions; however, its use has been limited in HCT patients with DAH due to potential for worsening alveolar hemorrhage and reported high mortality. Case Presentation: We report two cases of DAH following HCT who developed refractory hypoxemic respiratory failure despite cessation of bleeding and were successfully supported with ECMO. Conclusion: DAH after HCT should not automatically preclude ECMO support; rather, these patients must be evaluated individually for ECMO within the context of their overall clinical picture.
Laparoscopic treatment of placenta percreta retention in a cesarean scar: a case report
Authors: Jean-Bernard Dubuisson, Nordine Ben Ali, Jean Bouquet de Jolinière, Manuela Haggenjos, Anis Feki
Journal: Front Surg (2014)
Keywords: cesarean section scar, laparoscopy, placenta percreta

Placenta percreta retention within the scar of a previous cesarean section is rare. We report here one of these cases treated successfully by laparoscopy, with uterine repair. Different therapeutic options are described.
Case report: Myocarditis with nonsustained ventricular tachycardia following COVID-19 mRNA vaccination in a female adolescent
Authors: Jeongho Han, Joowon Lee, Sujin Choi, Hyunju Lee, Young Hwan Song
Journal: Front Pediatr (2022)
Keywords: covid-19, adolescent, case report, myocarditis, vaccine
MeSH terms: Case Reports

Children with underlying medical conditions potentially develop severe illness from Coronavirus disease 2019 (COVID-19). The use of vaccines against COVID-19 is currently recommended for the pediatric population. The COVID-19 vaccine has a temporal association with the occurrence of myocarditis. Although most patients with COVID-19 vaccination-associated myocarditis (C-VAM) exhibit a mild clinical course and rapid recovery, C-VAM potentially causes electrical instability and sudden cardiac death. Herein, we report the case of a 17-year-old woman who presented with chest pain and syncope following the first dose of the messenger RNA COVID-19 vaccine. The patient's heart function was impaired, and nonsustained ventricular tachycardia was frequent. Cardiac magnetic resonance (CMR) imaging satisfied the criteria for myocarditis. Despite the administration of immunomodulatory drugs, the patient's heart function was not fully restored, and the concentration of cardiac enzymes remained above the normal range. Persistence of late gadolinium enhancement was observed on short-term follow-up CMR imaging. Although most patients with C-VAM exhibit mild symptoms, significant cardiac arrhythmias potentially occur. Furthermore, some patients with C-VAM demonstrate prolonged impaired heart function and sustained late gadolinium enhancement on follow-up CMR imaging. Therefore, monitoring of electrical and functional cardiac abnormalities in patients with C-VAM is crucial and the long-term outcomes and prognosis of patients with C-VAM require further investigation.
Case Report: Four Cases of Panayiotopoulos Syndrome Evolving to Juvenile Myoclonic Epilepsy
Authors: Hideo Enoki, Shinji Itamura, Shimpei Baba, Tohru Okanishi, Ayataka Fujimoto
Journal: Front Neurol (2020)
Keywords: panayiotopoulos syndrome, atypical evolution, idiopathic generalized epilepsy, juvenile myoclonic epilepsy, self-limited focal epilepsy
MeSH terms: Case Reports

Panayiotopoulos syndrome (PS) is a self-limited focal epilepsy appearing in childhood. Seizures in PS are self-limiting and do not usually continue into adulthood. Juvenile myoclonic epilepsy (JME) is the most common type of idiopathic generalized epilepsy, developing around puberty and continuing throughout adulthood. We describe four cases of PS in childhood in which JME developed in adolescence. Age at onset ranged from 4 to 8 years for PS, and 11 to 14 years for JME. JME developed after PS subsided, with the interval between last PS seizure and first JME seizure ranging from 1 to 10 years. No link between the two conditions has previously been described. Since PS is considered to show good prognosis and to be self-limiting, long-term observation has been considered unnecessary. No definitive factors were found to predict future evolution to JME in our series, so longer-term follow-up may be warranted for all PS patients.
Minimally invasive closure of a progressive pseudoaneurysm of the ascending aorta: A case report
Authors: Yuan Wu, Linglin Fan, Fei Liu, Hui Zhuang, Xijie Wu
Journal: Front Cardiovasc Med (2023)
Keywords: aorta, high-risk patients, minimally invasive treatment, mortality, pseudoaneurysm
MeSH terms: Case Reports

Ascending aortic pseudoaneurysm (AAP) is rare but may cause life-threatening complications. Although the placement of a stent graft and the use of occluder devices and vascular plugs to exclude pseudoaneurysm are adopted for some patients, the management of progressive pseudoaneurysms that may rupture at any time remains a challenge that needs to be addressed. In this study, we present the case of a patient with an AAP that was caused by aortic and mitral valve replacement for the giant left ventricle. Aortic pseudoaneurysm was suspected on the basis of a spherical cystic echo (70 × 80 mm) of the ascending aorta; this pseudoaneurysm was detected by an ultrasonic cardiogram, and the diagnosis was confirmed by an aortic computed tomography angiography (CTA) examination. To prevent the unexpected rupture of a progressive pseudoaneurysm, our patient was treated with a 28- mm ASD occluder without any procedural complications. Our patient has a good prognosis, which will inspire clinicians to choose minimally invasive procedures when dealing with such high-risk cases in emergency situations.
A rare case of important and recurrent abnormal uterine bleeding in a post partum woman caused by cavernous hemangioma: a case report and review of literature
Authors: Kacou Edele Aka, Gninlgninrin Apollinaire Horo, Minata Fomba, Salif Kouyate, Abdoul Koffi Koffi, Seni Konan, Mohamed Fanny, Benjamin Effi, Mamourou Kone
Journal: Pan Afr Med J (2017)
Keywords: africa, hemangioma cavernous, post-partum, uterine bleeding
MeSH terms: Hemangioma, Cavernous / complications, Hysterectomy, Postpartum Hemorrhage / etiology, Case Reports, Review, Adult, Female, Hemangioma, Cavernous / diagnosis, Hemangioma, Cavernous / surgery, Humans, Postpartum Hemorrhage / surgery, Postpartum Period, Pregnancy, Pregnancy Complications, Neoplastic / surgery, Uterine Cervical Neoplasms / complications, Uterine Cervical Neoplasms / diagnosis, Uterine Cervical Neoplasms / surgery, Uterine Neoplasms / complications, Uterine Neoplasms / diagnosis, Uterine Neoplasms / surgery

The cavernous hemangioma is a rare benign vascular tumor. About 50 cases of this disease were found in the literature over the last century and only 9 cases of cavernous hemangioma on the pregnant uterus were published it comes into cavernous or capillary form. The symptomatology is not unequivocal and when it occurs during pregnancy or postpartum, it causes life-threatening cataclysmic hemorrhage. Antenatal diagnosis is difficult and requires a multidisciplinary approach with pathologists, radiologists and gynecologists to avoid these complications or unnecessary hysterectomies. The diagnosis is histological. Hysterectomy is possible after failure of conservative treatment means. We report a rare case, a novel mixed cavernous hemangioma of the body associated with a capillary hemangioma of the cervix in a patient of 28 years 5th visors with recurrent genital bleeding in the postpartum period leading to a hysterectomy.
Multiple Giant Coronary Artery Aneurysms Surgically Treated with Bypass Grafting: A Challenging Rarity
Authors: Kostas Kostopanagiotou, Aikaterini Poulou, Andrew Chatzis, Mazen Khoury
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Coronary artery aneurysms are encountered in daily cardiology practise but multiple giant-sized coronary artery aneurysms are extremely rare. We present an illustrative case of multiple giant aneurysms located throughout the coronary system (left main stem and all left, right, and circumflex branches) in a 57-year-old male with acute coronary syndrome. The case was managed successfully with on-pump quadruple coronary artery bypass grafting. To our knowledge, few cases of multiple giant aneurysms in all coronary vessels have been reported.
Case Report: Comorbid Hyper-IgD Syndrome and Hidradenitis Suppurativa - A New Syndromic Form of HS? A Report of Two Cases
Authors: Philippe Guillem, Dillon Mintoff, Mariam Kabbani, Elie Cogan, Virginie Vlaeminck-Guillem, Agnes Duquesne, Farida Benhadou
Journal: Front Immunol (2022)
Keywords: autoinflammation, autoinflammatory keratinization disease, hidradenitis suppurativa, hyper-igd syndrome, mevalonate kinase deficiency
MeSH terms: Hidradenitis Suppurativa / complications, Mevalonate Kinase Deficiency / complications, Mevalonate Kinase Deficiency / diagnosis, Case Reports, Comorbidity, Humans, Inflammation / complications, Skin, Syndrome

Hidradenitis Suppurativa (HS) is a chronic suppurative disease of the pilosebaceous unit. The current model of HS pathophysiology describes the condition as the product of hyperkeratinisation and inflammation at the hair follicular unit. Environmental factors (such as smoking and obesity), gender, genetic predisposition, and skin dysbiosis are considered the main pathogenic drivers of the disease. Autoinflammatory syndromes associated with HS are rare but may help to highlight the potential roles of autoinflammation and dysregulated innate immune system in HS. Therefore, it is of major relevance to increase the awareness about these diseases in order to improve the understanding of the disease and to optimize the management of the patients. Herein, we report for the first time, to our knowledge, two clinical cases of Hyper-IgD syndrome-associated HS. Hyper-IgD is an autoinflammatory syndrome caused by a mevalonate kinase deficiency (MKD), a key kinase in the sterol and isoprenoid production pathway. We describe the potentially shared pathophysiological mechanisms underpinning comorbid MKD-HS and propose therapeutic options for the management of these patients.
Henna-induced Hemolysis and Acute Kidney Injury in an 85-year-old Man; a Case Report
Authors: Sahel Asgari, Mohsen Esfandbod, Maryam Haghshomar
Journal: Arch Acad Emerg Med (2020)
Keywords: case reports, lawsonia plant, acute kidney injury, anemia, hemolysis, hemolytic, herbal medicine, toxicity

Henna is a commonly used traditional cosmetic agent, which also holds medical potentials and is used to treat skin lesions including seborrheic dermatitis or fungal infections and also has possible anti-inflammatory effects. It contains lawsone (2-hydroxy-1,4-naphthoquinone) and, therefore, has the potential to induce oxidative hemolysis. Henna-induced hemolysis has been previously reported in children with Glucose 6-Phosphate Dehydrogenase Deficiency. Here, we report an 85-year-old man who developed hemolytic anemia and acute kidney injury following oral consumption of henna to help his dyspnea. He was treated with hydration, bicarbonate, and dexamethasone. Over the course of hospitalization, the patient developed ventilator-associated pneumonia and was treated with antibiotic. He was discharged after one month. This finding is of high importance due to common use of henna, especially among people with false beliefs regarding traditional and herbal medicine, and highlights the role of a full history taking.
COVID-19 in a Severely Immunosuppressed Patient With Life-Threatening Eosinophilic Granulomatosis With Polyangiitis
Authors: Markus A Schramm, Nils Venhoff, Dirk Wagner, Jens Thiel, Daniela Huzly, Nils Craig-Mueller, Marcus Panning, Hartmut Hengel, Winfried V Kern, Reinhard E Voll
Journal: Front Immunol (2020)
Keywords: covid-19, egpa, sars-cov-2, cyclophosphamide, eosinophilic granulomatosis with polyangiitis, immunosuppression, rituximab, vasculitis
MeSH terms: Betacoronavirus / genetics, Churg-Strauss Syndrome / complications, Churg-Strauss Syndrome / drug therapy, Coronavirus Infections / complications, Cyclophosphamide / therapeutic use, Granulomatosis with Polyangiitis / complications, Granulomatosis with Polyangiitis / drug therapy, Immunosuppressive Agents / therapeutic use, Pneumonia, Viral / complications, Case Reports, Research Support, Non-U.S. Gov't, Adult, Antiviral Agents / therapeutic use, COVID-19, Coronavirus Infections / drug therapy, Coronavirus Infections / virology, Drug Therapy, Combination, Glucocorticoids / therapeutic use, Humans, Immunocompromised Host, Male, Pandemics, Pneumonia, Viral / drug therapy, Pneumonia, Viral / virology, Prednisolone / therapeutic use, RNA, Viral / genetics, Reverse Transcriptase Polymerase Chain Reaction, Rituximab / therapeutic use, SARS-CoV-2, Treatment Outcome, Antiviral Agents, Glucocorticoids, Immunosuppressive Agents, RNA, Viral, Rituximab, Cyclophosphamide, Prednisolone

Immunosuppressive therapies increase the susceptibility of patients to infections. The current pandemic with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) compels clinicians to develop recommendations for successful clinical management and surveillance of immunocompromised patients at high risk for severe disease progression. With only few case studies published on SARS-CoV-2 infection in patients with rheumatic diseases, we report a 25-year-old male who developed moderate coronavirus disease 2019 (COVID-19) with fever, mild dyspnea, and no major complications despite having received high-dose prednisolone, cyclophosphamide, and rituximab for the treatment of highly active, life-threatening eosinophilic granulomatosis with polyangiitis (EGPA).
From headache to kidney tumor; an example of von Hippel- Lindau disease
Authors: Mohammed Asserraji, Abdennasser El Kharras
Journal: J Renal Inj Prev (2015)
Keywords: central nervous system neoplasms, renal cell carcinoma, von hippel-lindau disease
MeSH terms: Case Reports

Background:
von Hippel-Lindau disease (VHL) is a rare genetic condition caused by the mutation of the VHL tumor suppressor gene and predisposing to various benign or malignant tumors involving mainly central nervous system (CNS) and retinal hemangioblastomas (RHB). Although considered as occult, multiple renal cysts and renal cell carcinoma (RCC) are frequent in VHL, occurring in nearly two-thirds of patients. RCC is the major neoplasm and the main cause of death in patients with this condition.
Case:
In this report, we present a case of an occult kidney tumor revealed by neurological symptoms of cerebellar hemangioblastoma.
Conclusion:
Kidney tumor was diagnosed incidentally on abdominal tomography and confirmed by histopathology analysis.