RESUMO
PURPOSE: In this study, the efficacy and feasibility of melatonin in young children with and without comorbidities, undergoing auditory brainstem response audiometry (ABR) was evaluated. The aim of this study was primarily to evaluate the use of melatonin for ABR investigations in children with comorbidities. Second, the efficacy of melatonin was evaluated based on several factors like sleep-onset latency, sleep duration, frequency of awakenings as well as adverse events. METHODS: Click-induced ABR tests were performed at the outpatient clinic between January, 2018 and August, 2020. Investigations were considered successful when binaural testing was completed. A dose of melatonin depending on age, 5 mg for children younger than 6 years and 10 mg if older than 6 years, was administered after placement of electrodes. RESULTS: 131 children were included in this study. 87% of all ABR investigations were performed successfully. Comorbidities such as neurodevelopmental disorders or developmental delays were present in 70% of all children. There was no significant difference in age (p = 0.36) or gender (p = 0.97) between the success and failed group. In addition, comorbidities were equally distributed between both groups. Mean sleep duration was 38 (SD 21) min and sleep-onset latency was 28 (SD 20) min No adverse events were documented. CONCLUSION: Melatonin is effective for ABR examinations in infants and children with and without comorbidities. Furthermore, it allows for sequential testing in those at risk for progressive hearing loss. Clear instructions to caregivers and expertise of audiologists are a prerequisite for optimal outcomes.
Assuntos
Perda Auditiva , Melatonina , Audiometria , Limiar Auditivo , Criança , Pré-Escolar , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Perda Auditiva/diagnóstico , Humanos , Lactente , Melatonina/uso terapêuticoRESUMO
BACKGROUND: Meningitis can be caused by several viruses and bacteria. Identifying the causative pathogen as quickly as possible is crucial to initiate the most optimal therapy, as acute bacterial meningitis is associated with a significant morbidity and mortality. Bacterial meningitis requires antibiotics, as opposed to enteroviral meningitis, which only requires supportive therapy. Clinical presentation is usually not sufficient to differentiate between viral and bacterial meningitis, thereby necessitating cerebrospinal fluid (CSF) analysis by PCR and/or time-consuming bacterial cultures. However, collecting CSF in children is not always feasible and a rather invasive procedure. METHODS: In 12 Belgian hospitals, we obtained acute blood samples from children with signs of meningitis (49 viral and 7 bacterial cases) (aged between 3 months and 16 years). After pathogen confirmation on CSF, the patient was asked to give a convalescent sample after recovery. 3' mRNA sequencing was performed to determine differentially expressed genes (DEGs) to create a host transcriptomic profile. RESULTS: Enteroviral meningitis cases displayed the largest upregulated fold change enrichment in type I interferon production, response and signaling pathways. Patients with bacterial meningitis showed a significant upregulation of genes related to macrophage and neutrophil activation. We found several significantly DEGs between enteroviral and bacterial meningitis. Random forest classification showed that we were able to differentiate enteroviral from bacterial meningitis with an AUC of 0.982 on held-out samples. CONCLUSIONS: Enteroviral meningitis has an innate immunity signature with type 1 interferons as key players. Our classifier, based on blood host transcriptomic profiles of different meningitis cases, is a possible strong alternative for diagnosing enteroviral meningitis.
Assuntos
Infecções por Enterovirus/sangue , Infecções por Enterovirus/genética , Meningite Viral/diagnóstico , Meningite Viral/genética , Punção Espinal , Transcriptoma/genética , Adolescente , Criança , Pré-Escolar , Infecções por Enterovirus/diagnóstico , Regulação da Expressão Gênica , Ontologia Genética , Humanos , Lactente , Meningites Bacterianas/genética , Meningite Viral/sangue , Curva ROCRESUMO
BACKGROUND: Transcriptome profiling of blood cells is an efficient tool to study the gene expression signatures of rheumatic diseases. This study aims to improve the early diagnosis of pediatric rheumatic diseases by investigating patients' blood gene expression and applying machine learning on the transcriptome data to develop predictive models. METHODS: RNA sequencing was performed on whole blood collected from children with rheumatic diseases. Random Forest classification models were developed based on the transcriptome data of 48 rheumatic patients, 46 children with viral infection, and 35 controls to classify different disease groups. The performance of these classifiers was evaluated by leave-one-out cross-validation. Analyses of differentially expressed genes (DEG), gene ontology (GO), and interferon-stimulated gene (ISG) score were also conducted. RESULTS: Our first classifier could differentiate pediatric rheumatic patients from controls and infection cases with high area-under-the-curve (AUC) values (AUC = 0.8 ± 0.1 and 0.7 ± 0.1, respectively). Three other classifiers could distinguish chronic recurrent multifocal osteomyelitis (CRMO), juvenile idiopathic arthritis (JIA), and interferonopathies (IFN) from control and infection cases with AUC ≥ 0.8. DEG and GO analyses reveal that the pathophysiology of CRMO, IFN, and JIA involves innate immune responses including myeloid leukocyte and granulocyte activation, neutrophil activation and degranulation. IFN is specifically mediated by antibacterial and antifungal defense responses, CRMO by cellular response to cytokine, and JIA by cellular response to chemical stimulus. IFN patients particularly had the highest mean ISG score among all disease groups. CONCLUSION: Our data show that blood transcriptomics combined with machine learning is a promising diagnostic tool for pediatric rheumatic diseases and may assist physicians in making data-driven and patient-specific decisions in clinical practice.
Assuntos
Artrite Juvenil , Doenças Reumáticas , Criança , Humanos , Artrite Juvenil/diagnóstico , Citocinas , Interferons , Osteomielite , Estudo de Prova de Conceito , Doenças Reumáticas/diagnóstico , Doenças Reumáticas/genética , TranscriptomaRESUMO
We describe the case of a 15-month-old boy with Kawasaki disease who developed varicella 7 days after the beginning of the disease and diffuse plaque psoriasis after 43 days. Associations between Kawasaki disease and psoriasis, between Kawasaki disease and varicella and between varicella and psoriasis have all been reported in the literature. The triple association of Kawasaki disease, varicella and psoriasis is very rare. Neither the double nor the triple associations are well known among a diverse group of practitioners.
Assuntos
Varicela/complicações , Síndrome de Linfonodos Mucocutâneos/complicações , Psoríase/complicações , Aspirina/uso terapêutico , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Lactente , Masculino , Furoato de Mometasona/administração & dosagem , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Psoríase/tratamento farmacológicoRESUMO
Sporadic cases of diphtheria are very rare throughout Europe. A 3-year-old incompletely vaccinated girl was admitted with pharyngotonsillitis caused by diphtheria. On day 9 of her illness, renal and cardiac failure with a third-degree AV-block occurred. Unfortunately, she died within 36 h of admission to intensive care, despite pacemaker placement, the administration of antibiotics and diphtheria antitoxin. The delayed antitoxin administration 7 days after admission to hospital was related to a lack of availability and knowledge of its availability in Europe and this is likely to have contributed to the unfavourable outcome.
Assuntos
Antitoxina Diftérica/administração & dosagem , Difteria/complicações , Difteria/diagnóstico , Miocardite/etiologia , Miocardite/patologia , Antibacterianos/administração & dosagem , Pré-Escolar , Difteria/tratamento farmacológico , Europa (Continente) , Evolução Fatal , Feminino , Humanos , Marca-Passo ArtificialRESUMO
UNLABELLED: 22q11.2 microduplication syndrome is characterized by a large phenotypic variability including facial dysmorphism, developmental delay, and hearing loss. We describe a family in whom 5 of 11 children were affected by a unilateral or bilateral congenital aural atresia. Four of these 5 carried a 22q11.2 microduplication and had typical dysmorphic features. Computed tomography with 3-D reconstructions allowed for a detailed examination of the middle ear structures and classification of the atresia type. Audiometry revealed a moderately severe conductive hearing loss in accordance with the clinical and computed tomography findings. CONCLUSION: Detailed examination of the ear is warranted in patients with a 22q11.2 microduplication. When outer ear abnormalities are encountered, an additional workup including audiometry and computed tomography with 3-D reconstructions is required.