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INTRODUCTION: Digital advancements have given access to huge amounts of real-world data (RWD) widely used for dermatological research. OBJECTIVES: The objective of this study was to investigate the agreement between consumer-driven self-assessed psoriasis severity and physician-assessed severity based on photographs. METHODS: Customer IDs in the NØIE database (Danish skincare company) from 2009 to 2022 with a smartphone photograph of psoriasis vulgaris on the body and a corresponding completed questionnaire were included. Smartphone photographs were evaluated by a physician-assessing erythema, induration, and scaling on a scale from 0 to 4 based on Psoriasis Area Severity Index (PASI). Self-assessment was done on a scale from 0 to 10 and converted to 0-4 scale (0 converted to 0; 1-3 to 1; 4-6 to 2; 7-8 to 3; and 9-10 to 4). Intraclass correlation coefficients with 95% confidence intervals (CIs) were calculated. RESULTS: In total, 187 patients (63% women) with mean age of 38 years were included. Self-assessment scores were higher than physicians' assessment scores for all groups, and scaling was closest to the physicians' assessment, while erythema and induration had a greater distance between the physicians' and patients' assessment. The correlation between self-assessed and physician-assessed psoriasis severity for all patients was 0.23 (95% CI: 0.0-0.92); 0.34 (95% CI: 0.0-0.95) for chronic patients; and 0.09 (-0.01 to 0.82) for non-chronic patients. The agreement was better for men (0.53 [-0.02 to 0.98]) than for women (0.12 [-0.01 to 0.84]). CONCLUSION: There was weak agreement between self-assessed psoriasis severity and photographically assessed severity by the physician. Consumer-driven RWD should be interpreted with caution.
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Fotografação , Psoríase , Índice de Gravidade de Doença , Humanos , Feminino , Masculino , Adulto , Estudos Transversais , Pessoa de Meia-Idade , Autoavaliação Diagnóstica , Autoavaliação (Psicologia) , Smartphone , Inquéritos e QuestionáriosRESUMO
OBJECTIVE: To estimate the prevalence of workplace violence and its impact on doctors in hospitals. METHODS: The cross-sectional study was conducted from August 2021 to January 2022 in Baghdad and Karbala governorates of Iraq, and comprised resident doctors at a number of hospitals. Data was collected using a selfadministered questionnaire that focussed on the frequency of exposure to violence, type, source, most common time, and other details about violence as well as its impact on doctors and their careers. Data was analysed using SPSS 23. RESULTS: Of the 1,079 subjects working at 18 participating hospitals and having a mean age 30.0±5.72 years, 567(52.5%) were females and 512(47.5%) were males, while 570(52.8%) were aged <30 years and 509(47.2%) were aged >30 years. Overall, violence exposure was reported by 811(75.2%) subjects; 427(52.6%) females and 384(47.4%) males. Gender was not significantly associated with exposure to violence (p>0.05). Due to missing data, further analysis was limited to 792(97.6%) subjects who faced exposure to workplace violence. In 671(85%) cases, the assaults were nonphysical. However, 110(14%) doctors reported physical attacks and severe consequences. There were 673(85%) doctors with exposure to violence who expressed their intention to change their job, workplace, or leave the country because of violence. CONCLUSIONS: The problem of violence against Iraqi doctors was found to be highly prevalent with a seriously negative impact on the medical professionals.
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Violência no Trabalho , Humanos , Feminino , Iraque/epidemiologia , Masculino , Adulto , Estudos Transversais , Violência no Trabalho/estatística & dados numéricos , Prevalência , Médicos/estatística & dados numéricos , Médicos/psicologia , Inquéritos e Questionários , Corpo Clínico Hospitalar/estatística & dados numéricos , Corpo Clínico Hospitalar/psicologia , Assédio Sexual/estatística & dados numéricos , Hospitais/estatística & dados numéricosRESUMO
The present study describes a 19-year-old woman with systemic herpes simplex virus (HSV)-1 infection and hemophagocytic lymphohistiocytosis (HLH) postpartum, and a fatal course of neonatal herpesvirus infection. Functional investigation of cells from the mother demonstrated significantly impaired induction of antiviral interferons and cytokines in the context of normal activation of the transcription factors NF-κB and IRF3. Whole-exome sequencing did not reveal any functionally validated genetic variants. We suggest that the functionally impaired antiviral responses, potentially caused by a variant in CASP8 or other variants in noncoding regions of the genome, contributed to the unusually severe disease course observed in two generations.
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Herpes Simples/diagnóstico , Herpesvirus Humano 1/isolamento & purificação , Linfo-Histiocitose Hemofagocítica/complicações , Antivirais/uso terapêutico , Doenças Transmissíveis/tratamento farmacológico , Citocinas , Feminino , Herpes Simples/complicações , Herpes Simples/tratamento farmacológico , Herpes Simples/mortalidade , Herpesvirus Humano 1/genética , Humanos , Imunidade Inata , Transmissão Vertical de Doenças Infecciosas , Interferons/uso terapêutico , Linfo-Histiocitose Hemofagocítica/tratamento farmacológico , Período Pós-Parto , Complicações Infecciosas na Gravidez , Sequenciamento do Exoma , Adulto JovemRESUMO
BACKGROUND: STK4 deficiency due to homozygous mutations in the STK4 gene encoding the STK4/MST1 kinase was first described in 2012. STK4/MST1 kinase regulates cell proliferation, survival, differentiation, and immune responses through canonical and non-canonical Hippo signaling pathways. OBJECTIVE: We describe an 11-year-old girl with a clinical presentation consisting of severe recurrent herpes zoster, chronic warts, and recurrent pneumonias, as well as a somatic phenotype with hypothyroidism and low stature. Whole exome sequencing revealed STK4 deficiency due to homozygosity for a novel frameshift variant in STK4, c.523dupA, p.(L174fsTer45), resulting in a premature stop codon within the kinase domain. METHODS: We performed a thorough investigation of the genetics and innate and adaptive immunological abnormalities in STK4 deficiency. RESULTS: We show significantly impaired type I, II, and III interferon (IFN) responses and partly reduced proinflammatory cytokine responses to ligands of Toll-like receptor (TLR)3, TLR9, and the cytosolic RNA and DNA sensors as well as to microorganisms. Impaired IFN responses could be attributed to reduced phosphorylation of TBK1 and IRF3. Moreover, virus infection induced enhanced cell death by apoptosis. Importantly, autophagy pathways were slightly disturbed, with enhanced LC3B-Ito LCB3-II conversion at the single cell level but normal overall formation of LCB3 punctae. Finally, the patient displayed some indicators of impaired adaptive immunity in the form of insufficient vaccination responses, T cell lymphopenia, and reduced Treg fractions, although with largely normal T cell proliferation and normal IFNg production. CONCLUSION: Here, we demonstrate disturbances in various immune cell populations and pathways involved in innate immune responses, cell death, autophagy, and adaptive immunity in a patient homozygous for a novel STK4 frameshift mutation.
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Imunidade Inata/genética , Fator Regulador 3 de Interferon/metabolismo , Interferons/biossíntese , Peptídeos e Proteínas de Sinalização Intracelular/deficiência , Proteínas Serina-Treonina Quinases/deficiência , Proteínas Serina-Treonina Quinases/metabolismo , Transdução de Sinais , Imunidade Adaptativa , Alelos , Autofagia , Diferenciação Celular , Proliferação de Células , Sobrevivência Celular/genética , Citocinas/biossíntese , Feminino , Genótipo , Via de Sinalização Hippo , Humanos , Hospedeiro Imunocomprometido , Imunofenotipagem , Infecções/etiologia , Infecções/metabolismo , Ativação Linfocitária , Macrófagos/imunologia , Macrófagos/metabolismo , Masculino , Mutação , Neutrófilos/imunologia , Neutrófilos/metabolismo , Linhagem , Fenótipo , Linfócitos T/imunologia , Linfócitos T/metabolismoRESUMO
During the COVID-19 pandemic, the emergence of a new condition with hyperinflammatory shock, resembling Kawasaki disease (KD), was reported in children from Western countries strongly affected by SARS-CoV-2. This syndrome was termed paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 infection (PIMS-TS). Despite displaying features similar to KD, studies demonstrated a new and more severe disease entity with multiorgan involvement, in particular gastrointestinal symptoms and heart failure, with blood tests consistent with a postinfectious inflammatory condition as summarised in this review.
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COVID-19/complicações , Síndrome de Resposta Inflamatória Sistêmica , Criança , Humanos , PandemiasRESUMO
Coronavirus disease-19 (COVID-19) describes a set of symptoms that develop following infection by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Whilst COVID-19 disease is most serious in patients with significant co-morbidities, the reason for healthy individuals succumbing to fulminant infection is largely unexplained. In this review, we discuss the most recent findings in terms of clinical features and the host immune response, and suggest candidate immune pathways that may be compromised in otherwise healthy individuals with fulminating COVID-19. On the basis of this early knowledge we reason a potential genetic effect on host immune response pathways leading to increased susceptibility to SARS-CoV-2 infection. Understanding these pathways may help not only in unraveling disease pathogenesis, but also in suggesting targets for therapy and prophylaxis. Importantly such insight should instruct efforts to identify those at increased risk in order to institute preventative measures, such as prophylactic medication and/or vaccination, when such opportunities arise in the later phases of the current pandemic or during future similar pandemics.
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Betacoronavirus , Infecções por Coronavirus , Predisposição Genética para Doença , Pandemias , Pneumonia Viral , Betacoronavirus/genética , Betacoronavirus/imunologia , COVID-19 , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/genética , Infecções por Coronavirus/imunologia , Humanos , Pneumonia Viral/epidemiologia , Pneumonia Viral/genética , Pneumonia Viral/imunologia , SARS-CoV-2 , Índice de Gravidade de DoençaRESUMO
Background: Pulmonary tuberculosis (PTB) remains major public health problem over the world. Cities witnessing religious event throughout of the year like Kerbala/Iraq require great efforts to minimize the incidence of deadly communicable diseases like TB. The aim of this study is to model the monthly incidence rates of PTB cases in Kerbala/Iraq. Methods: This is a retrospective study in which records of confirmed PTB patients whom they referred to the chest and respiratory illnesses center of Holy Kerbala governorate were obtained. Monthly registered new smear-positive PTB cases from January 2010 to December 2016 were analyzed. Seasonal autoregressive integrated moving average (SARIMA), SARIMA-exponential smoothing method (ETS), SARIMA-neural network autoregressive, and SARIMA-adaptive neuro-fuzzy inference system (SARIMA-ANFIS) were used for forecasting monthly incidence rate of TB in Kerbala, Iraq. Mean absolute percentage error, root mean square error, and mean absolute square error were used to compare the models, and Akaike information criterion (AIC) and Bayesian information criterion (BIC) were used to selected best model. Results: The trend of PTB incidence showed a seasonal characteristic, with peaks in spring and winter. Predicted estimates using all models proposed to forecast the number of PTB cases from 2016 to 2018 showed that the PTB cases indicated marginal decrease trends and best forecasted in SARIMA-ANFIS model (the lower AIC and BIC values, 712.69 and 731.05, respectively). Conclusion: Seasonal characteristic of PTB incidence was observed with peaks during spring and winter. Forecasting of PTB incidence between the period 2016 and 2018 showed marginal decrease trends, and the best forecasting model was SARIMA-ANFIS model.