Fever Associated with Gastrointestinal Shigellosis Unmasks Probable Brugada Syndrome

Since it was first described approximately 15 years ago, the Brugada Syndrome has spurred a significant quantity of interest in its underlying mechanism and physiology. The Brugada electrocardiographic pattern is characterized by right bundle branch block morphology and ST segment elevations in the right precordial leads with an absence of identifiable underlying structural heart disease. The syndrome is clinically significant since these patients are at a higher risk of developing malignant ventricular arrhythmias. One of the mechanisms behind the disorder involves mutations in specific myocardial sodium channels. Furthermore, these electrocardiographic changes appear to be temperature dependent. We present the case of a 35-year-old male who presented with intestinal Shigellosis and was also found to have Brugada-type electrocardiographic changes on ECG. The electrocardiographic changes that were present when the patient was admitted and febrile resolved following antibiotic therapy and defervescence

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies

IKAROS is a transcription factor forming homo- and heterodimers and regulating lymphocyte development and function. Germline mutations affecting the IKAROS N-terminal DNA binding domain, acting in a haploinsufficient or dominant-negative manner, cause immunodeficiency. Herein, we describe 4 germline heterozygous IKAROS variants affecting its C-terminal dimerization domain, via haploinsufficiency, in 4 unrelated families. Index patients presented with hematologic disease consisting of cytopenias (thrombocytopenia, anemia, neutropenia)/Evans syndrome and malignancies (T-cell acute lymphoblastic leukemia, Burkitt lymphoma). These dimerization defective mutants disrupt homo- and heterodimerization in a complete or partial manner, but they do not affect the wild-type allele function. Moreover, they alter key mechanisms of IKAROS gene regulation, including sumoylation, protein stability, and the recruitment of the nucleosome remodeling and deacetylase complex; none affected in N-terminal DNA binding defects. These C-terminal dimerization mutations are largely associated with hematologic disorders, display dimerization haploinsufficiency and incomplete clinical penetrance, and differ from previously reported allelic variants in their mechanism of action. Dimerization mutants contribute to the growing spectrum of IKAROS-associated diseases displaying a genotype-phenotype correlation

Do medical residents perform patient-centered medical home tasks? A mixed-methods study

Background: Increasingly, residents are being trained in Patient-centered Medical Home (PCMH) settings. A set of PCMH entrustable professional activities (EPAs) for residents has been defined but not evaluated in practice. Objective: To understand whether residents trained at PCMH sites reported higher likelihood of engaging in PCMH tasks than those training in non-PCMH sites. Design: Survey and nominal group data from post-graduate trainees at three residency programs. Results: A total of 179 residents responded (80% response). Over half (52%) cared for patients at PCMH sites. Residents at PCMH sites were more likely to report engaging in tasks in the NCQA domains of enhancing access and continuity (p < 0.01 for 4/11 tasks), planning and managing care (p < 0.01 for 3/4 tasks), providing self-care and community support (p < 0.01 for 3/5 tasks), and identifying and managing patient populations (p < 0.01 for 1/6 tasks), but were not more likely to report tracking and coordinating care or measuring and improving performance. Residents at PCMH sites were more likely to report working with medical assistants (p < 0.01), but not other healthcare professionals. Qualitative data showed staff teamwork and continuity of care as facilitators of patient-centered care, and technological problems and office inefficiencies as barriers to care. Conclusions: Residents trained at PCMH sites were more likely to engage in tasks in several NCQA domains, but not care coordination and quality assessment. Similar facilitators and barriers to trainee provision of patient-centered care were cited regardless of PCMH status. Curricula on PCMH principles and workflows that foster continuity and communication may help to inform residents on PCMH tenets and incorporate residents into team-based care. Abbreviations: EPA: Entrustable professional activity; GIM: General Internal Medicine; NCQA: National Center for Quality Assurance; PCMH: Patient-centered medical hom