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1.
J Hosp Infect ; 141: 209-220, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37634602

RESUMO

BACKGROUND: Hospitals are hotspots for antimicrobial resistance genes (ARGs), and play a significant role in their emergence and spread. Large numbers of ARGs will be ejected from hospitals via wastewater systems. Wastewater-based epidemiology has been consolidated as a tool to provide real-time information, and represents a promising approach to understanding the prevalence of bacteria and ARGs at community level. AIMS: To determine bacterial diversity and identify ARG profiles in hospital wastewater pathogens obtained from coronavirus disease 2019 (COVID-19) isolation hospitals compared with non-COVID-19 facilities during the pandemic. METHODS: Wastewater samples were obtained from four hospitals: three assigned to patients with COVID-19 patients and one assigned to non-COVID-19 patients. A microbial DNA quantitative polymerase chain reaction was used to determine bacterial diversity and ARGs. FINDINGS: The assay recorded 27 different bacterial species in the samples, belonging to the following phyla: Firmicutes (44.4%), Proteobacteria (33.3%), Actinobacteria (11%), Bacteroidetes (7.4%) and Verrucomicrobiota (3.7%). In addition, 61 ARGs were detected in total. The highest number of ARGs was observed for the Hazem Mebaireek General Hospital (HMGH) COVID-19 patient site (88.5%), and the lowest number of ARGs was found for the HMGH non-patient site (24.1%). CONCLUSION: The emergence of contaminants in sewage water, such as ARGs and high pathogen levels, poses a potential risk to public health and the aquatic ecosystem.


Assuntos
COVID-19 , Águas Residuárias , Humanos , Genes Bacterianos , Antibacterianos/farmacologia , Catar/epidemiologia , Vigilância Epidemiológica Baseada em Águas Residuárias , Ecossistema , Hospitais de Isolamento , COVID-19/epidemiologia , Bactérias , Resistência Microbiana a Medicamentos
2.
Clin Genet ; 93(5): 1087-1092, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29388673

RESUMO

Hypomyelinating leukodystrophies (HLDs) affect the white matter of the central nervous system and manifest as neurological disorders. They are genetically heterogeneous. Very recently, biallelic variants in NKX6-2 have been suggested to cause a novel form of autosomal recessive HLD. Using whole-exome or whole-genome sequencing, we identified the previously reported c.196delC and c.487C>G variants in NKX6-2 in 3 and 2 unrelated index cases, respectively; the novel c.608G>A variant was identified in a sixth patient. All variants were homozygous in affected family members only. Our patients share a primary diagnosis of psychomotor delay, and they show spastic quadriparesis, nystagmus and hypotonia. Seizures and dysmorphic features (observed in 2 families each) represent an addition to the phenotype, while developmental regression (observed in 3 families) appears to be a notable and previously underestimated clinical feature. Our findings extend the clinical and mutational spectra associated with this novel form of HLD. Comparative analysis of our 10 patients and the 15 reported previously did, however, not reveal clear evidence for a genotype-phenotype correlation.


Assuntos
Predisposição Genética para Doença , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/genética , Proteínas de Homeodomínio/genética , Convulsões/genética , Adolescente , Criança , Pré-Escolar , Exoma/genética , Feminino , Estudos de Associação Genética , Heterogeneidade Genética , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/fisiopatologia , Homozigoto , Humanos , Lactente , Masculino , Mutação , Fenótipo , Convulsões/fisiopatologia , Substância Branca/patologia , Sequenciamento do Exoma , Sequenciamento Completo do Genoma
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