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1.
Ital J Pediatr ; 50(1): 50, 2024 Mar 13.
Article in English | MEDLINE | ID: mdl-38481309

ABSTRACT

BACKGROUND: To analyze the etiological distribution characteristics of drug-resistant epilepsy (DRE) in children, with the aim of providing valuable perspectives to enhance clinical practice. METHODS: In this retrospective study, clinical data were collected on 167 children with DRE who were hospitalized between January 2020 and December 2022, including gender, age of onset, seizure types, video electroencephalogram(VEEG) recordings, neuroimaging, and genetic testing results. Based on the etiology of epilepsy, the enrolled children were categorized into different groups. The rank-sum test was conducted to compare the age of onset for different etiologies. RESULTS: Of the 167 cases, 89 (53.3%) had a clear etiology. Among them, structural factors account for 23.4%, genetic factors for 19.2%, multiple factors for 7.2%, and immunological factors for 3.6%. The age of onset was significantly earlier in children with genetic causes than those with structural (P < 0.001) or immunological (P = 0.001) causes. CONCLUSIONS: More than half of children with DRE have a distinct underlying cause, predominantly attributed to structural factors, followed by genetic factors. Genetic etiology primarily manifests at an early age, especially among children aged less than one year. This underscores the need for proactive enhancements in genetic testing to unveil the underlying causes and subsequently guide treatment protocols.


Subject(s)
Drug Resistant Epilepsy , Epilepsy , Child , Humans , Retrospective Studies , Drug Resistant Epilepsy/etiology , Drug Resistant Epilepsy/genetics , Epilepsy/diagnosis , Epilepsy/etiology , Epilepsy/drug therapy , Seizures , Electroencephalography/methods
2.
Prep Biochem Biotechnol ; 48(7): 653-661, 2018.
Article in English | MEDLINE | ID: mdl-29995567

ABSTRACT

Consolidated bioprocessing (CBP) strategy was developed to construct a cell-surface displayed consortium for heterologously expressing functional lignocellulytic enzymes. The reaction system composed of two engineered yeast strains: Y5/XynII-XylA (co-displaying two types of xylanases) and Y5/EG-CBH-BGL (co-displaying three types of cellulases). The immobilization of recombinant fusion proteins and their cell-surface accessibility of were analyzed by flow cytometry and immunofluorescence. The feasibility of consolidated bioprocessing by using pretreated corn stover (CS) as substrate for direct bioconversion was further investigated, and the synergistic activity and proximity effect between cellulases and xylanases on lignocelluloses degradation were also discussed in this work. Without any commercial enzyme addition, the combined yeast consortium produced 1.61 g/L ethanol which achieved 64.7% of the theoretical ethanol yield during 144 h from steam-exploded CS. The results indicated that the assembly of cellulases and xylanases using a synthetic consortium capable of combined displaying lignocellulytic enzymes is a promising approach for simultaneous saccharification and fermentation to ethanol from lignocellulosic biomass.


Subject(s)
Aspergillus oryzae/genetics , Cellulase , Endo-1,4-beta Xylanases , Ethanol/metabolism , Fungal Proteins , Microorganisms, Genetically-Modified , Saccharomyces cerevisiae , Trichoderma/genetics , Aspergillus oryzae/enzymology , Cellulase/biosynthesis , Cellulase/genetics , Endo-1,4-beta Xylanases/biosynthesis , Endo-1,4-beta Xylanases/genetics , Fungal Proteins/biosynthesis , Fungal Proteins/genetics , Lignin/chemistry , Lignin/metabolism , Microorganisms, Genetically-Modified/enzymology , Microorganisms, Genetically-Modified/genetics , Saccharomyces cerevisiae/enzymology , Saccharomyces cerevisiae/genetics , Trichoderma/enzymology , Zea mays/chemistry
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