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1.
Rev Mal Respir ; 39(9): 758-777, 2022 Nov.
Artigo em Francês | MEDLINE | ID: mdl-36229356

RESUMO

Inborn metabolic diseases or inborn errors of metabolism comprise a large number of rare and heterogeneous genetic diseases categorized in several subgroups depending on their pathophysiologic mechanisms. In this review, we focus on different metabolic diseases with respiratory symptoms in adults: lysosomal glycosphingolipidoses such as acid sphingomyelinase deficiency (Niemann-Pick types A and B disease), Gaucher, Fabry, Pompe diseases and mucopolysaccharidoses in general. We also address classical homocystinuria, which is a monogenic vascular disease, Hermansky-Pudlak syndrome, which is associated with disorders in the lysosomal-related-organelles, and lysinuric protein intolerance, which is due to an amino-acid transporter defect. Presentation and prognosis of these diseases are highly heterogeneous, and respiratory impairment may be central and prognostic. Many are primarily pediatric, and diagnoses are often delivered during childhood. Improved pediatric management has enabled better prognosis and new phenotype of the diseases in the adulthood. Some others can be diagnosed during adulthood. While some diseases call for specific, specialized treatment, all necessitate systematic multidisciplinary management. It is of paramount importance that a pneumologist be familiar with these phenotypes, most of which can benefit from early diagnosis and early therapeutic management with dedicated innovative treatments.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos , Doenças Metabólicas , Erros Inatos do Metabolismo , Humanos , Erros Inatos do Metabolismo/complicações , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/terapia , Erros Inatos do Metabolismo dos Aminoácidos/complicações , Fenótipo
2.
Rev Med Interne ; 41(6): 360-367, 2020 Jun.
Artigo em Francês | MEDLINE | ID: mdl-31982256

RESUMO

INTRODUCTION: Patients with psychiatric disorders suffer from a higher rate of somatic disorders than those without psychiatric disorder, often inappropriately managed. Our study aimed to describe patients with psychiatric comorbidity in post-emergency internal medicine units and to compare their length of hospital stay to patients without psychiatric disease. METHODS: This French cross sectional study used the data warehouse of the greater Paris hospitals. It included, all patients hospitalized through the emergency department in 9 internal medicine departments during the year 2017. Psychiatric disorders and the burden of somatic disorders (Charlson score) were determined through diagnostic coding. Charlson score and hospital length of stay were compared between patients with and without psychiatric comorbidity. RESULTS: In total, 8981 hospital stays (8001 patients) were included, 1867 (21%) with psychiatric comorbidity. After adjusting for age, gender, hospital and main diagnosis, the Charlson score was on average 0.68 higher in the psychiatric comorbidity group (P<0.001) and the length of hospital stay was 30% higher after further adjustment on the Charlson score (P<0.001). These differences were consistent for each main diagnosis. CONCLUSION: Patients with psychiatric comorbidity are frequent in post-emergency internal medicine wards. They experience longer hospital stays, only partly related with a higher burden of somatic disorders. Special attention should be paid to this vulnerable population.


Assuntos
Serviço Hospitalar de Emergência/estatística & dados numéricos , Medicina Interna/estatística & dados numéricos , Tempo de Internação/estatística & dados numéricos , Transtornos Mentais/epidemiologia , Transferência de Pacientes/estatística & dados numéricos , Adulto , Idoso , Idoso de 80 Anos ou mais , Comorbidade , Estudos Transversais , Feminino , Humanos , Medicina Interna/organização & administração , Masculino , Pessoa de Meia-Idade , Paris/epidemiologia , Estudos Retrospectivos
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