Ochoaballard1615

Episodes of mania typically occur in the context of bipolar disorder, with an average age of onset of 25 years. A condition with identical symptoms, known as secondary mania, generally occurs in isolation in older adults and has an identifiable organic etiology. Here, we report a 57-year-old man who presented to the emergency department with a 3 weeks history of sudden onset mania with psychotic symptoms. He had no previous psychiatric history, and his presentation coincided with the initiation of a course of steroids. BMS-345541 datasheet Despite the absence of physical symptoms, investigations revealed a previously undetected adrenocorticotropic hormone-releasing small cell lung carcinoma that led to his death within months. This case highlights the complexity of distinguishing primary from secondary mania when it occurs after the peak incidence period of early adulthood. Undertaking a comprehensive medical workup is generally recommended. © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.We report a case of a 3-year-old boy who presented with recurrent bacterial and fungal infections and a known diagnosis of partial DiGeorge (22q11.2 deletion) syndrome. The nature and severity of his infections were more than normally expected in partial DiGeorge syndrome with normal T-cell counts and T-cell proliferative response to phytohaemagglutinin. This prompted further investigation of the immune system. An abnormal neutrophil respiratory oxidative burst, but normal protein expression of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system, led to the identification of myeloperoxidase deficiency. DiGeorge syndrome has a heterogeneous clinical phenotype and may not be an isolated diagnosis. It raises awareness of the possibility of two rare diseases occurring in a single patient and emphasises that even when a rare diagnosis is confirmed, if the clinical features remain atypical or unresponsive, then further investigation for additional cofactors is warranted. © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.We report a case of Behçet's disease in a 9-year-old boy from Greece, presenting with a history of recurrent ulceration of the oral cavity. Following inspection of the oral cavity, which revealed lesions on both the upper and lower labial mucosa, as well as a large ulcer on the apex of the tongue, the diagnosis of Behçet's disease was immediately suspected. The diagnosis was confirmed using the International Criteria for Behçet's Disease. Nevertheless, as multiple diseases can cause recurrent oral aphthosis, an extensive differential diagnosis was made, and pertinent tests were undertaken to exclude other causes of oral ulceration. The approach to a patient with Behçet's disease, as well as its various clinical presentations and complications, is discussed. © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.INTRODUCTION Based on data obtained before high-dose (2 g/kg) intravenous immunoglobulin (IVIG) therapy prevailed in Japan, children with a history of Kawasaki disease (KD) were highly susceptible to disease recurrence and more likely to develop cardiac sequelae. We aimed to examine the epidemiological features of cardiac complications among patients with recurrent KD following the widespread use of high-dose IVIG therapy. DESIGN Two cohorts of patients with recurrent KD retrieved from Japanese nationwide surveys (previous cohort 1989-1994; recent cohort 2003-2012) were compared. RESULTS Of 1842 patients with recurrent KD in the recent cohort, 3.5% and 5.2% developed cardiac sequelae at the initial and second episodes, respectively, which were markedly decreased compared with those (>10%, respectively) in the previous cohort. Multivariate analyses showed that the risk factors for cardiac sequelae at the second episode were similar between the cohorts. Patients with recurrent KD in both cohorts were more likely to have coronary aneurysms at the second episode than at the initial episode. However, when patients with coronary aneurysms at the initial episode were excluded from analyses, the difference in the proportions of coronary aneurysms between KD episodes disappeared in the recent cohort. Residual rates of previously formed coronary aneurysms were similar between the cohorts (approximately 50%). CONCLUSION This study suggests that KD recurrence is no longer a risk factor for developing cardiac complications, unless cardiac sequelae appear at the initial episode. However, residual rates of previously formed coronary aneurysms remain high. Therefore, the importance of carefully managing coronary aneurysms associated with KD remains unchanged. © Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.BACKGROUND Fever among children is a leading cause of emergency department (ED) attendance and a diagnostic conundrum; yet robust quantitative evidence regarding the preferences of parents and healthcare providers (HCPs) for managing fever is scarce. OBJECTIVE To determine parental and HCP preferences for the management of paediatric febrile illness in the ED. SETTING Ten children's centres and a children's ED in England from June 2018 to January 2019. PARTICIPANTS 98 parents of children aged 0-11 years, and 99 HCPs took part. METHODS Nine focus-groups and coin-ranking exercises were conducted with parents, and a discrete-choice experiment (DCE) was conducted with both parents and HCPs, which asked respondents to choose their preferred option of several hypothetical management scenarios for paediatric febrile illness, with differing levels of visit time, out-of-pocket costs, antibiotic prescribing, HCP grade and pain/discomfort from investigations. RESULTS The mean focus-group size was 4.4 participants (rangeatisfaction considerably in managing paediatric febrile illness. © Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ.Recurrent hotspot (p.Gly17Val) mutations in RHOA encoding a small GTPase, together with loss-of-function mutations in TET2 encoding an epigenetic regulator, are genetic hallmarks of angioimmunoblastic T-cell lymphoma (AITL). Mice expressing the p.Gly17Val RHOA mutant on a Tet2-null background succumbed to AITL-like T-cell lymphomas due to deregulated T-cell receptor (TCR) signaling. Using these mice to investigate therapeutics for AITL, we found that dasatinib, a multi-kinase inhibitor prolonged their survival through inhibition of hyperactivated TCR signaling. A phase I clinical trial study of dasatinib monotherapy in five relapsed/refractory AITL patients was performed. Dasatinib was started at a dose of 100 mg/body q.d. and continued until days 10-78 (median day 58). All the evaluable patients achieved partial responses. Our findings suggest that AITL is highly dependent on TCR signaling and that dasatinib could be a promising candidate drug for AITL treatment. Copyright ©2020, American Association for Cancer Research.