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1.
Infect Dis Now ; 52(3): 130-137, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35172217

RESUMO

BACKGROUND: Beyond sex, age, and various comorbidities, geographical origin and socioeconomic deprivation are associated with Coronavirus Disease (COVID-19) morbidity and mortality in the general population. We aimed to assess factors associated with severe forms of COVID-19 after a hospital emergency department visit, focusing on socioeconomic factors. METHODS: Patients with laboratory-confirmed COVID-19 attending the emergency department of Béclère Hospital (France) in March-April 2020 were included. Postal addresses were used to obtain two geographical deprivation indices at the neighborhood level. Factors associated with hospitalization and factors associated with adverse outcomes, i.e. mechanical ventilation or death, were studied using logistic and Cox analyses, respectively. RESULTS: Among 399 included patients, 321 were hospitalized. Neither geographical origin nor socioeconomic deprivation was associated with any of the outcomes. Being male, older, overweight or obese, diabetic, or having a neuropsychiatric disorder were independent risk factors for hospitalization. Among 296 patients hospitalized at Béclère Hospital, 91 experienced an adverse outcome. Older age, being overweight or obese, desaturation and extent of chest CT scan lesions>25% at admission (aHR: 2.2 [95% CI: 1.3-3.5]) and higher peak CRP levels and acute kidney failure (aHR: 2.0 [1.2-3.3]) during follow-up were independently associated with adverse outcomes, whereas treatment with hydrocortisone reduced the risk of mechanical ventilation or death by half (aHR: 0.5 [0.3-0.8]). CONCLUSION: No association between geographical origin or socioeconomic deprivation and the occurrence of a severe form of COVID-19 was observed in our population after arrival to the emergency department. Empirical corticosteroid use with hydrocortisone had a strong protective impact.


Assuntos
COVID-19 , COVID-19/epidemiologia , Feminino , Hospitalização , Hospitais , Humanos , Hidrocortisona , Masculino , Obesidade/epidemiologia , Sobrepeso , SARS-CoV-2 , Fatores Sociais
2.
Rev Med Interne ; 35(12): 794-800, 2014 Dec.
Artigo em Francês | MEDLINE | ID: mdl-25112804

RESUMO

This review focuses on the role of new tools in the "modern" microbiological diagnosis of tuberculosis. Traditional techniques of microscopy and culture remain essential to diagnostic certainty, but some innovations replace daily the older techniques such as the identification of Mycobacterium tuberculosis complex by immunochromatography or mass spectrometry MALDI-TOF type from positive cultures, or susceptibility testing in liquid medium. New tools that use molecular techniques have become important. They all have in common to optimize the fight against tuberculosis by reducing diagnostic delay. They also allow rapid detection of drug resistance. However, the techniques of gene amplification directly from clinical samples are still less sensitive than culture. Bacteriological diagnosis of tuberculosis disease therefore still relies on the complementarities of different phenotypic and molecular techniques.


Assuntos
Mycobacterium tuberculosis/genética , Mycobacterium tuberculosis/isolamento & purificação , Tuberculose/diagnóstico , Antituberculosos/uso terapêutico , Cromatografia de Afinidade , DNA Bacteriano/genética , DNA Bacteriano/isolamento & purificação , Humanos , Testes de Liberação de Interferon-gama , Espectrometria de Massas , Microscopia , Técnicas de Amplificação de Ácido Nucleico , Fenótipo , Reação em Cadeia da Polimerase em Tempo Real
3.
Int J Tuberc Lung Dis ; 16(9): 1180-5, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22794271

RESUMO

OBJECTIVE: To evaluate the potential of (18)F-fluoro-deoxyglucose positron emission tomography/computed tomography ((18)F-FDG PET/CT) for early therapeutic intervention in patients with probable or confirmed tuberculosis (TB). METHODS: Twenty-one consecutive human immunodeficiency virus negative patients were prospectively included. All patients underwent (18)F-FDG PET/CT before and after 1 month of anti-tuberculosis treatment. The maximum standardised uptake value (SUV(max)) of the most (18)F-FDG avid lesions was recorded. RESULTS: The median age of patients was 36 years (range 18-84); 33.3% were male, 80.9% were born in endemic countries, and 23.8% had a past history of TB. TB was confirmed on culture in 8, on histology in 9 and on the basis of clinical symptoms in 4 patients. (18)F-FDG PET/CT detected active pulmonary TB (n = 1), extra-pulmonary (n = 10) or both (n = 10). The second (18)F-FDG PET/CT showed reduced radiotracer uptake intensity in 19 of 21 patients, with a median percentage decrease of SUV(max) of 31% (range 2-84). Two patients showed no improvement. TB was ruled out in one patient during follow-up; the final diagnosis was a non-Hodgkin's lymphoma. The other patient was smear-positive for 3 months. CONCLUSION: (18)F-FDG PET/CT allows an easy evaluation of early therapeutic response in patients with TB, particularly extra-pulmonary TB.


Assuntos
Antituberculosos/uso terapêutico , Fluordesoxiglucose F18 , Imagem Multimodal , Tomografia por Emissão de Pósitrons , Compostos Radiofarmacêuticos , Tomografia Computadorizada por Raios X , Tuberculose/diagnóstico por imagem , Tuberculose/tratamento farmacológico , Imagem Corporal Total , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , França/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Prospectivos , Fatores de Tempo , Resultado do Tratamento , Tuberculose/etnologia , Tuberculose Pulmonar/diagnóstico por imagem , Tuberculose Pulmonar/tratamento farmacológico , Adulto Jovem
4.
Rev Neurol (Paris) ; 167(6-7): 541-4, 2011.
Artigo em Francês | MEDLINE | ID: mdl-21481905

RESUMO

INTRODUCTION: Levocarnitine treatment is usually well tolerated, with essentially dose-dependent diarrhea as the main induced adverse effect. CASE REPORT: We report a case of fish odor syndrome during levocarnitine treatment which resolved after levocarnitine discontinuation. CONCLUSION: This adverse effect seems to be correlated with excedent carnitine intake and might be expressed when the elimination pathway becomes saturated or in a situation of deficiency enzymatic metabolism.


Assuntos
Carnitina/efeitos adversos , Odorantes , Carnitina/farmacocinética , Carnitina/uso terapêutico , Feminino , Humanos , Erros Inatos do Metabolismo/induzido quimicamente , Erros Inatos do Metabolismo/urina , Metilaminas/urina , Pessoa de Meia-Idade , Esclerose Múltipla/complicações , Esclerose Múltipla/tratamento farmacológico , Sarcosina/análogos & derivados , Sarcosina/urina
6.
J Med Genet ; 47(10): 670-6, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20693550

RESUMO

BACKGROUND: Succinate-CoA ligase deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Mutations in SUCLA2, the gene encoding a ß subunit of succinate-CoA ligase, have been reported in 17 patients until now. Mutations in SUCLG1, encoding the α subunit of the enzyme, have been described in two pedigrees only. METHODS AND FINDINGS: In this study, two unrelated patients harbouring three novel pathogenic mutations in SUCLG1 were reported. The first patient had a severe disease at birth. He was compound heterozygous for a missense mutation (p.Pro170Arg) and a c.97+3G>C mutation, which leads to the complete skipping of exon 1 in a minigene expression system. The involvement of SUCLG1 was confirmed by western blot analysis, which showed absence of SUCLG1 protein in fibroblasts. The second patient has a milder phenotype, similar to that of patients with SUCLA2 mutations, and is still alive at 12 years of age. Western blot analysis showed some residual SUCLG1 protein in patient's fibroblasts. CONCLUSIONS: Our results suggest that SUCLG1 mutations that lead to complete absence of SUCLG1 protein are responsible for a very severe disorder with antenatal manifestations, whereas a SUCLA2-like phenotype is found in patients with residual SUCLG1 protein. Furthermore, it is shown that in the absence of SUCLG1 protein, no SUCLA2 protein is found in fibroblasts by western blot analysis. This result is consistent with a degradation of SUCLA2 when its heterodimer partner, SUCLG1, is absent.


Assuntos
Ácido Metilmalônico/urina , Encefalomiopatias Mitocondriais/genética , Encefalomiopatias Mitocondriais/fisiopatologia , Mutação , Índice de Gravidade de Doença , Succinato-CoA Ligases/genética , Sequência de Aminoácidos , Criança , Evolução Fatal , Humanos , Lactente , Masculino , Ácido Metilmalônico/sangue , Encefalomiopatias Mitocondriais/mortalidade , Modelos Moleculares , Dados de Sequência Molecular , Mutação de Sentido Incorreto , Fenótipo , Succinato-CoA Ligases/química , Succinato-CoA Ligases/deficiência , Succinato-CoA Ligases/metabolismo
7.
Arch Pediatr ; 17(7): 1074-7, 2010 Jul.
Artigo em Francês | MEDLINE | ID: mdl-20434892

RESUMO

Medium-chain Acyl-CoA dehydrogenase deficiency (MCAD) is one of the most common fatty acid oxidation disorders. Clinical manifestations can be serious and lead to death if unrecognized. They are not specific and can mimic meningitis or an acute intestinal intussusception in its neurological form. Early recognition of MCAD and presymptomatic treatment of intercurrent illness improve the prognosis over the short- and long-term. MCAD deficiency satisfies the major criteria for newborn screening. We report the cases of 2 patients whose presentation was typical and severe. Early diagnosis of MCAD deficiency helped to start a simple treatment in both patients aimed at preventing further decompensation.


Assuntos
Acil-CoA Desidrogenase/deficiência , Coma/etiologia , Erros Inatos do Metabolismo Lipídico/diagnóstico , Carnitina/uso terapêutico , Serviço Hospitalar de Emergência , Feminino , Humanos , Lactente , Erros Inatos do Metabolismo Lipídico/terapia , Masculino , Complexo Vitamínico B/uso terapêutico
8.
Arch Pediatr ; 17(1): 10-3, 2010 Jan.
Artigo em Francês | MEDLINE | ID: mdl-19932602

RESUMO

3-Hydroxy-3-methylglutaric aciduria is a rare autosomal recessive genetic disorder due to a deficiency of the 3-hydroxy-3-methylglutarylCoA lyase (HMG-CoA lyase), a mitochondrial enzyme involved in ketogenesis and in the final step of l-leucine catabolism. HMG-CoA lyase deficiency can lead, in particular circumstances, such as fever, prolonged fasting or digestive disorders, to brutal and severe hypoglycemia with metabolic acidosis and sometimes fatal coma. We report on a new case of 3-hydroxy-3-methylglutaric aciduria particular by its late onset in a 3-year-old patient. Molecular investigation identified two new sequence modifications in the HMGCL gene: c.494G>A (p.Arg165Gln) and c.820G>A (p.Gly274Arg). We remind about this case report that the therapeutical is mainly preventive and allows a very good prognosis for this disease. Long-term treatment consists in limited fasting time, continuous low protein diet and l-carnitine supplementation. Preventive measures are essential: prevention of fasting and emergency treatment during intercurrent infections.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/genética , Aberrações Cromossômicas , Genes Recessivos/genética , Hipoglicemia/genética , Meglutol/urina , Oxo-Ácido-Liases/deficiência , Oxo-Ácido-Liases/genética , Doenças Raras/diagnóstico , Doenças Raras/genética , Alelos , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Carnitina/administração & dosagem , Pré-Escolar , Terapia Combinada , Análise Mutacional de DNA , Dieta com Restrição de Proteínas , Éxons/genética , Humanos , Hipoglicemia/urina , Leucina/metabolismo , Masculino , Reação em Cadeia da Polimerase , Doenças Raras/terapia , Análise de Sequência de DNA
9.
Eur J Clin Microbiol Infect Dis ; 28(10): 1209-15, 2009 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19499255

RESUMO

Staphylococci are a leading cause of skin and soft tissue infections (SSTIs) and bacteremia in France, a country with a high prevalence of oxacillin resistance. We evaluated the in vitro activity of daptomycin compared with reference compounds against 445 Staphylococcus aureus and 53 coagulase-negative Staphylococci (CNS) collected during two large nationwide studies performed in 2006 and 2007. The percentage of oxacillin resistance among S. aureus was 13.6% (SSTIs) and 30.7% (bacteremia). Daptomycin showed lower MIC(90) levels compared to vancomycin, teicoplanin, and linezolid (0.19 mg/L vs. 2, 1.5, and 1 mg/L, respectively), irrespective of oxacillin susceptibility. Amongst the CNS, 64.2% of the isolates originated from clinical bacteremia were resistant to oxacillin and 24.5% to teicoplanin; all but one Staphylococci were susceptible to daptomycin (MIC = 1.5 mg/l). As with linezolid, daptomycin seems to constitute an alternative option to treat some staphylococcal infections in the French context of high oxacillin resistance prevalence and high glycopeptides MIC.


Assuntos
Antibacterianos/uso terapêutico , Bacteriemia/tratamento farmacológico , Daptomicina/uso terapêutico , Infecções dos Tecidos Moles/tratamento farmacológico , Infecções Estafilocócicas/tratamento farmacológico , Infecções Cutâneas Estafilocócicas/tratamento farmacológico , Antibacterianos/farmacologia , Bacteriemia/microbiologia , Coagulase/metabolismo , Contagem de Colônia Microbiana , Infecções Comunitárias Adquiridas/tratamento farmacológico , Infecções Comunitárias Adquiridas/microbiologia , Daptomicina/farmacologia , Relação Dose-Resposta a Droga , Farmacorresistência Bacteriana , França , Humanos , Testes de Sensibilidade Microbiana , Oxacilina/farmacologia , Oxacilina/uso terapêutico , Infecções dos Tecidos Moles/microbiologia , Infecções Estafilocócicas/microbiologia , Infecções Cutâneas Estafilocócicas/microbiologia , Staphylococcus/efeitos dos fármacos , Staphylococcus/enzimologia , Resultado do Tratamento
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