Project description:Amyloid myopathy often occurs in the context of systemic amyloidosis, as a rare manifestation of "light chain" (AL) amyloidosis, accounting for 1% of its incidence. A 58-year-old man with two years history of weakness and edema of lower extremity, elevated creatine kinase (CK), and inflammatory lesions from muscle biopsy which was misdiagnosed as inflammatory myopathy. After immunotherapy, the original symptoms worsened. We later confirmed the disease through MRI, Congo red staining and bone marrow puncture results. Our purpose is that to increase awareness of amyloid myopathy to minimize the risk of misdiagnosis and emphasize the importance of Congo red staining in diagnosing similar conditions.
Project description:Remimazolam is a recently approved benzodiazepine sedative. We report a case of a 72-year-old man who experienced a cardiac arrest due to severe anaphylaxis immediately after general anesthesia induction. Based on the results of skin tests, including those for dextran 40, an excipient in the remimazolam solution, and a review of drugs given during 3 anesthetics, remimazolam was identified as the probable causative agent. Although remimazolam is structurally similar to midazolam, the patient was not allergic to midazolam as demonstrated before and after anaphylaxis. This report highlights the potential risk of allergic reactions to remimazolam.
Project description:Idiopathic inflammatory myopathies (IIMs) are common autoimmune diseases that affect skeletal muscle quality and function. The lack of an early diagnosis and treatment can lead to irreversible muscle damage. Non-coding RNAs (ncRNAs) play an important role in inflammatory transfer, muscle regeneration, differentiation, and regulation of specific antibody levels and pain in IIMs. ncRNAs can be detected in blood and hair; therefore, ncRNAs detection has great potential for diagnosing, preventing, and treating IIMs in conjunction with other methods. However, the specific roles and mechanisms underlying the regulation of IIMs and their subtypes remain unclear. Here, we review the mechanisms by which micro RNAs and long non-coding RNA-messenger RNA networks regulate IIMs to provide a basis for ncRNAs use as diagnostic tools and therapeutic targets for IIMs.
Project description:We report a case of a six-year-old boy who presented after a cardiac arrest, likely due to a pulmonary hypertensive crisis in the setting of vitamin C deficiency. After initially presenting with subacute multifocal bone lesions of unknown etiology, he experienced a pulseless electrical activity cardiac arrest while undergoing a diagnostic procedure under sedation. During his post-arrest convalescence, he developed persistent tachycardia and peripheral edema. An echocardiogram revealed findings consistent with significant pulmonary arterial hypertension, which was found to be responsive to inhaled nitric oxide. Laboratory investigation revealed undetectable levels of vitamin C, resulting in disclosure of a history of severe restrictive eating behavior. With ascorbate supplementation, the patient's pulmonary vasodilators were weaned and discontinued. Given his complete recovery, we suspect that the cardiac arrest and pulmonary hypertension were the consequence of a rare, but reversible, complication of scurvy.
Project description:BackgroundEosinophilic myocarditis (EM) is a rare and devastating condition. The underlying cause of EM is unknown, and the natural history is not well understood.Case summaryA 20-year-old male presented in cardiogenic shock with preceding 24-h history of pleuritic chest pain associated with nausea and vomiting. Electrocardiogram showed sinus tachycardia with widespread ST elevation, significantly raised high-sensitivity troponin T, and raised white cell count with eosinophilia. Transthoracic echocardiogram demonstrated severe left ventricular (LV) impairment and a moderate-sized pericardial effusion. Right ventricular (RV) endomyocardial biopsy and bone marrow biopsy were performed, with both demonstrating prominent eosinophilia. He was initiated on pulse methylprednisolone leading to rapid clinical improvement with normalization of LV function. Day 9 after discharge, he was readmitted to hospital with presyncope and right heart failure. Electrocardiogram revealed junctional escape rhythm, and cardiac magnetic resonance imaging showed scarring confined to the atria. The patient was treated with mepolizumab and underwent an electrophysiology study with electroanatomical mapping, demonstrating sinus arrest and the absence of electrical activity throughout the right atrium. After much deliberation, an implantable cardioverter-defibrillator was implanted with a deep septal RV pacing lead and an apical RV defibrillator lead.DiscussionWe present a unique case of EM with two distinct phases: the first marked by severe LV impairment resolving with immunosuppression; the second characterized by atrial cardiomyopathy leading to persistent symptomatic sinus arrest necessitating permanent pacing. Close follow-up of EM after initial remission is essential to monitor for further complications including heart failure and arrhythmias.
Project description:Point of Care Ultrasound is an increasingly popular modality in the emergency department as well as in the critical care unit. Its applications are varied, centered on its role in diagnosis, thereby minimizing the time taken for the appropriate diagnosis to be made and hence incorporate definitive treatment. There are currently no international guidelines published with regards for point of care ultrasound in the context of cardiac arrest. We propose to delineate the impact of the role of point of care ultrasound in a patient with cardiac arrest, in the evaluation of the cause, its prognostic role, as well as possible implications for therapies based on a case report.
Project description:BackgroundCardiac sarcoidosis is found to occur in approximately 5% of patients with sarcoidosis. Its presentation can typically range from complete heart block to ventricular arrhythmias. This condition can rarely present with severe heart failure and cardiogenic shock requiring aggressive and timely management strategies. Advanced imaging techniques are usually required to assist with its diagnosis.Case presentationA 70-year-old woman with a history of pulmonary sarcoidosis presented with non-ST elevation myocardial infarction, congestive hepatopathy, and acute renal failure. Left heart catheterization showed evidence of non-obstructive coronary artery disease, and right heart catheterization revealed severely elevated filling pressures and depressed cardiac index. She underwent aggressive diuresis and placement of an intra-aortic balloon pump in addition to initiation of inotropic and vasopressor support. While in the cardiac intensive care unit, she experienced frequent episodes of ventricular tachycardia and went into cardiac arrest requiring cardiopulmonary resuscitation. High clinical suspicion for cardiac sarcoidosis was confirmed by cardiac magnetic resonance imaging findings. After starting immunosuppressive therapy for cardiac sarcoidosis, she demonstrated clinical improvement.ConclusionPatients with cardiac sarcoidosis may remain asymptomatic or present with conduction abnormalities and arrhythmias. They rarely present with severe biventricular heart failure and cardiogenic shock, and in such cases, they require timely initiation of pharmacologic and device therapies, along with implementation of mechanical circulatory support.
Project description:This review outlines the progress that has been made in understanding the genetics of the idiopathic inflammatory myopathies in the previous 2 years, with a particular focus on dermatomyositis and polymyositis. A recent genome-wide association study in dermatomyositis has confirmed the importance of the major histocompatibility region in this disease, and has suggested a shared genetic etiology with other autoimmune disorders. This has led to an ongoing study of additional immune-related loci using the Immunochip array. Candidate gene studies have identified novel risk associations in non-Europeans, such as STAT4 and HLA-DRB1 in the Japanese population. Evidence for gene-environment interactions has come from two recent studies implicating smoking status and statin use with HLA alleles. This review also touches on future approaches to genetic research in myositis, including bioinformatics tools to identify causal variants, HLA imputation from existing genetic data and statistical methods to investigate shared effects between subgroups of myositis.
Project description:This review summarizes the previous and current literature on the immunogenetics of idiopathic inflammatory myopathy (IIM) and updates the research progress that has been made over the past decade. A substantial part of the genetic risk for developing adult- and juvenile-onset IIM lies within the major histocompatibility complex (MHC), and a tight relationship exists between individual human leukocyte antigen alleles and specific serological subtypes, which in turn dictate clinical disease phenotypes. Multiple genetic regions outside of the MHC are increasingly being identified in conferring IIM disease susceptibility. We are still challenged with the task of studying a serologically and clinically heterogeneous disorder that is rarer by orders of magnitude than the likes of rheumatoid arthritis. An ongoing and internationally coordinated IIM genome-wide association study may provide further insights into IIM immunogenetics.