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1.
Int J Legal Med ; 135(2): 509-519, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32856118

RESUMO

OBJECTIVES: To build a detection algorithm of non-accidental pediatric burns (NAB) using hospital resumes from the French Hospital Discharge Database (HDD) and to describe cases with no judicial or administrative report. MATERIALS AND METHODS: Children aged 0-16 years old hospitalized at the University Hospital of Tours from 2012 to 2017 with a coded burn were included. "Probable" or "possible" HDD cases of NAB were defined based on the International Classification of Diseases 10th version codes during the inclusion stay or the previous year. A chart review was performed on all the HDD cases and HDD non cases matched on sex and age with a 1:2 ratio. Performance parameters were estimated for three clinical definitions of child maltreatment: excluding neglect, including neglect in a restrictive definition, and in a broad definition. For clinical cases, report to the judicial or administrative authorities was searched. RESULTS: Among the 253 included children, 83 "probable" cases and 153 non-cases were analyzed. Sensitivity varied from 48 (95%CI [36-60], excluding neglect) to 90% [55-100] and specificity from 70 [63;77] to 68% [61;74]. The proportion of clinical cases with no report without justification varied from 0 (excluding neglect) to > 85% (with the broadest definition); all corresponded to possible isolated neglect. CONCLUSION: The performances of the algorithm varied tremendously according to the clinical definition of child maltreatment. Neglect is obviously complex and tough to clinically detect. Training for healthcare professionals and qualitative studies on obstacles to report should be added to this work.


Assuntos
Algoritmos , Queimaduras/diagnóstico , Maus-Tratos Infantis/diagnóstico , Bases de Dados Factuais , Notificação de Abuso , Adolescente , Queimaduras/classificação , Criança , Pré-Escolar , Feminino , França/epidemiologia , Hospitais , Humanos , Lactente , Masculino , Alta do Paciente/estatística & dados numéricos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
2.
Eur J Endocrinol ; 184(2): 347-355, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33361469

RESUMO

AIM: To describe the presenting features and molecular genetics of primary hyperparathyroidism (PHPT) in the paediatric population. METHODS: Retrospective study of 63 children diagnosed with primary PHPT from 1998 to 2018. RESULTS: Compared to older children, infants were often asymptomatic (54% vs 15%, P = 0.002) with a milder form of PHPT. When symptomatic, children and adolescents mostly presented with non-specific complaints such as asthenia, depression, weight loss, vomiting or abdominal pain. A genetic cause of PHPT was identified in about half of this cohort (52%). The infancy period was almost exclusively associated with mutation in genes involved in the calcium-sensing receptor (CaSR) signalling pathway (i.e. CaSR and AP2S1 genes, 'CaSR group'; 94% of infants with mutations) whereas childhood and adolescence were associated with mutation in genes involved in parathyroid cell proliferation (i.e. MEN1, CDC73, CDKN1B and RET genes, 'cell proliferation group'; 69% of children and adolescents with mutations). Although serum calcium levels did not differ between the two groups (P = 0.785), serum PTH levels and the urinary calcium/creatinine ratio were significantly higher in 'cell proliferation group' patients compared to those in the 'CaSR group' (P = 0.001 and 0.028, respectively). CONCLUSION: Although far less common than in adults, PHPT can develop in children and is associated with significant morbidity. Consequently, this diagnosis should be considered in children with non-specific complaints and lead to monitoring of mineral homeostasis parameters. A genetic cause of PHPT can be identified in about half of these patients.


Assuntos
Hiperparatireoidismo Primário/diagnóstico , Hiperparatireoidismo Primário/genética , Adolescente , Idade de Início , Criança , Pré-Escolar , Estudos de Coortes , Feminino , França/epidemiologia , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Hiperparatireoidismo Primário/epidemiologia , Hiperparatireoidismo Primário/patologia , Lactente , Recém-Nascido , Masculino , Biologia Molecular , Fenótipo , Estudos Retrospectivos
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