RESUMEN

Background: Crimean-Congo hemorrhagic fever (CCHF) is a major emerging infectious disease threat, and children are reported to have a milder disease course compared with adults, in contrast to other viral hemorrhagic fevers. The aim of this study was to compare adult and pediatric patients with CCHF to improve understanding of pathogenesis and the natural history of the disease. Materials and Methods: A retrospective analysis of all children and adults admitted with confirmed CCHF between 2011 and 2020. Epidemiological, clinical, and laboratory features were collated on proformas, together with clinical management details. The Severity Grading Score (SGS) system was used to stratify mortality risk. Data from children were compared with adults in the same center and with other published pediatric cohort studies. Results: A total of 47 children with a median (ranges) age of 14 (2-17) years and 176 adults with a median (ranges) age of 52 (18-83) years with confirmed CCHF were included. The most frequent symptoms in adults were fever, muscle-joint pain, headache, nausea, and vomiting; the most frequent in children were fever, anorexia, nausea, vomiting, and abdominal pain. Adults had lower lymphocyte and platelet counts and higher liver transaminase and creatinine levels than children. SGS values were lower in children, but 97.9% children received ribavirin compared with 8.5% of adults (p < 0.001), and they had associated longer median lengths of hospital admission (10 vs. 7 days, p < 0.001). Mortality of 1 out of 47 (2.1%) children was similar to 11 other cohorts reported in Türkiye and lower than 13.1% in adults (23/176) in the same center (p = 0.059). Conclusions: Children have lower CCHF-related mortality, less severe disease, and different clinical syndromes at presentation. The majority of published case definitions for screening for CCHF in the main endemic countries do not differentiate between adults and children and omit four of the five most common presenting features in children.

RESUMEN

Previous studies have suggested that girls with Turner syndrome (TS) exhibit symptoms of social anxiety during interactions with others. However, few studies have quantified these behaviors during naturalistic face-to-face social encounters. In this study, we coded observational markers of social anxiety in prepubertal girls with TS and age-matched controls during a 10-min social encounter with an unfamiliar examiner. Results showed that girls with TS exhibited significantly higher levels of gaze avoidance compared to controls. Impairments in social gaze were particularly increased in girls with a maternally retained X chromosome (Xm), suggesting a genomic imprinting effect. These data indicate that social gaze avoidance may be a critical behavioral marker for identifying early social dysfunction in young girls with TS.

Asunto(s)

Trastorno del Espectro Autista , Síndrome de Turner , Ansiedad , Femenino , Impresión Genómica , Humanos , Monosomía , Síndrome de Turner/genética , Cromosoma X

RESUMEN

BACKGROUND: Syndromes of iron overload have been shown to increase the risk of severe clinical disease in viral infections. Immune dysfunction is similarly described in hereditary haemochromatosis (HH). We present here the case of a 51-year-old man who developed severe coronavirus disease 2019 (COVID-19) complicated by suspected haemophagocytic lymphohistiocytosis (HLH). He was found to have HH post-mortem and we propose a link between his iron overload and the development of severe COVID-19. CASE REPORT: The initial clinical presentation consisted of cough, shortness of breath and fever. Pancytopenia, markedly elevated ferritin and d-dimer were present. Computed tomography (CT) showed bilateral ground glass changes consistent with COVID-19, widespread lymphadenopathy and splenomegaly. A subsequent combined nose and throat swab was positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). HLH was suspected based upon the H-score and Anakinra, an IL-1 receptor antagonist, was commenced. Liver function acutely worsened and magnetic resonance cholangiopancreatography (MRCP) revealed hepatic haemosiderosis. Intense splenic and cervical lymph node uptake were seen on a positron emission tomography (PET) scan and high doses of intravenous steroids were administered due to concerns over haematological malignancy. RESULTS: Day fourteen of admission heralded the start of progressive clinical deterioration with rapid increase in oxygen demands. Continuous positive airway pressure (CPAP) was trialled without success and the patient unfortunately died seventeen days into admission. Results returned after his death showed homozygous C282Y mutation of the HFE gene consistent with a diagnosis of HH. Post-mortem examination revealed widespread haemosiderin deposition in the liver along with lung pathology in keeping with severe COVID-19 and widespread splenic infarctions. CONCLUSION: An association between HH and COVID-19 is not currently described in the literature. What does exist, however, is an evidence base for the detrimental impacts iron overload has on viral infections in general and the negative effects of HH on the immune system. We therefore postulate that the underlying metabolic and immune disturbances seen in HH should be considered a potential risk factor for the development of severe COVID-19. This case also adds to the evidence that hyperinflammation appears to be a unique and interesting characteristic of this novel viral disease.