Search results for "Pediatria"
showing 10 items of 692 documents
Cuestionario de adaptación a la diabetes-mellitus tipo I en pediatría: relación con la psicopatología
2018
ABSTRACT Objective: to study the psychometric properties of an adaptive disease response questionnaire for use with Spanish children with type 1 diabetes; to analyse this response in this sample and to observe the relationship between adaptive response and levels of anxiety-depression. Method: a total of 100 patients with type 1 diabetes aged between nine and 16 years (M=12.28, SD=1.78) participated in the study, of which 59% were children. Data was collected in public hospitals via interviews using the Adaptive Disease Response Questionnaire and Anxiety and Depression Scale. The data was analysed using Pearson correlations, multiple hierarchical linear regressions, Student’s t Test for ind…
Coronary involvement in Mediterranean spotted fever
2011
Mediterranean spotted fever (MSF) is a tick-borne acute febrile disease caused by Rickettsia conorii and characterized by fever, a maculo-papular rash and a black eschar at the site of the tick bite. We describe the case of a 3-year-old boy with MSF who developed a transient right coronary artery ectasia. The patient was brought to the hospital after four days of fever and mild myalgia of the legs. The suspicion of MSF arose due to the presence of a maculo-papular skin rash and treatment with oral clarithromycin was started. After four days fever persisted and the differential diagnosis of Kawasaki syndrome was considered. Echocardiography showed a dilated right coronary artery with hyperre…
Physical, psychological and social impact of school violence on children.
2019
Abstract Violence against children includes all forms of violence against people under 18 years old whether perpetrated by parents or other caregivers, peers, partners, teacher or strangers. This is a public health, human rights, and social problem: levels of violence against children are frightfully high and it is estimated that up to 1 billion children aged 2–17 years, have experienced a type of violence. Very few studies provided physical violence perpetrated at school but it can have a physical impact, causing psychological distress, permanent physical disability and long-term physical or mental ill-health. Children who experienced any type of violence at school may develop reactive att…
A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus
2012
Hypohidrotic ectodermal dysplasia (HED) was first described in 1848 by Thurnam. HED belongs to ectodermal dysplasias (EDs), which are developmental impairments of ectodermal-derived tissues. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of the EDs and consists in abnormal development of teeth, hair, and eccrine sweat glands. XLHED is determined by mutations in the ED1 gene, which is responsible for the coding of ectodysplasin-A(EDA-A), a protein that regulates ectodermal appendage formation. In the present study we found both in our proband and in the mother the same missense mutation in exon 9 (c.957 CA), which resulted in an aminoacid change at position 319 (S…
The hairy elbows syndrome: clinical and neuroradiological findings.
2009
The hairy elbows syndrome (HES) is a rare congenital phenotype characterized by an abnormal increase in long hairs localized on the upper limbs extensor surfaces. This feature is often associated with short stature, facial asymmetry, dysmorphisms, intrauterine growth retardation (IUGR), and mental and speech delay. We report a case with hypertricosis cubiti associated with infantile spasms, behaviour disorders and cerebral hemisphere asymmetry. Although these findings have not been previously described we are uncertain whether they are unusual or underestimated. However, it is likely that these neurological findings are strongly interrelated leading to a more severe phenotype of the syndrom…
The characteristics of patients with COVID-19-associated pediatric vasculitis: an international, multicenter study
2023
Objective: COVID-19-associated pediatric vasculitis, other than Kawasaki disease (KD)-like vasculitis in multisystem inflammatory syndrome in children (MIS-C), is very rare. This study sought to analyze the characteristics, treatment, and outcomes in patients with COVID-19-associated pediatric vasculitis (excluding KD-like vasculitis in MIS-C). Methods: The inclusion criteria were as follows: 1) age <18 years at vasculitis onset; 2) evidence of vasculitis; 3) evidence of SARS-CoV-2 exposure; and 4) ≤3 months between SARS-CoV-2 exposure and vasculitis onset. Patients with MIS-C were excluded. The features of the subset of patients in our cohort who had COVID-19-associated pediatric IgA vascu…
Foetal exposure to heavy metals and risk of atopic diseases in early childhood
2020
International audience; Background: Accumulating evidence suggests that in utero exposures can influence the development of the immune system and thus contribute to disease development. Studies investigating the association between prenatal exposures to heavy metals and atopic diseases, however, are scarce.Methods: Children from the EDEN birth cohort were prospectively followed up using parental questionnaires with validated questions on asthma, allergic rhinitis, eczema, and food allergy symptoms. The questionnaires were administered every 4 months during the children's first year, and then every year until the age of 5, with a final survey at the age of 8. Serum concentrations of lead (Pb…
2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment.
2015
Elevated fetal hemoglobin (HbF) ameliorates the clinical severity of hemoglobinopathies such as β-thalassemia and sickle cell anemia. Currently, the only curative approach for individuals under chronic transfusion/chelation support therapy is allogeneic stem cell transplantation. However, recent analyses of heritable variations in HbF levels have provided a new therapeutic target for HbF reactivation: the transcriptional repressor BCL11A. Erythroid-specific BCL11A abrogation is now actively being sought as a therapeutic avenue, but the specific impact of such disruption in humans remains to be determined. Although single nucleotide polymorphisms in BCL11A erythroid regulatory elements have …
Psychometric properties of the questionnaire on threat perception of chronic illnesses in pediatric patients*
2020
Objetivo: o objetivo do estudo foi avaliar as propriedades psicometricas do Questionario de Percepcao de Doencas Versao Breve em uma amostra de adolescentes com condicoes endocrinas ou pneumologicas cronicas. Analisar a dimensionalidade e reduzir a escala elaborando baremas por sexo e diagnostico medico. Metodo: avaliamos 510 pacientes com idades entre 9 e 16 anos usando o Questionario de Percepcao de Doencas Versao Breve e a Escala Hospitalar de Ansiedade e Depressao. Foram realizados testes de confiabilidade, validade do construto, validade de criterio e comparacao de medias segundo o diagnostico e as variaveis sociodemograficas. As analises de confiabilidade e validade mostraram propried…
Opportunistic infections in immunosuppressed patients with juvenile idiopathic arthritis: analysis by the Pharmachild Safety Adjudication Committee
2020
Background: To derive a list of opportunistic infections (OI) through the analysis of the juvenile idiopathic arthritis (JIA) patients in the Pharmachild registry by an independent Safety Adjudication Committee (SAC). Methods: The SAC (3 pediatric rheumatologists and 2 pediatric infectious disease specialists) elaborated and approved by consensus a provisional list of OI for use in JIA. Through a 5 step-procedure, all the severe and serious infections, classified as per MedDRA dictionary and retrieved in the Pharmachild registry, were evaluated by the SAC by answering six questions and adjudicated with the agreement of 3/5 specialists. A final evidence-based list of OI resulted by matching …