PURPOSE: To describe ocular manifestations in Japanese patients with congenital insensitivity to pain with anhidrosis (CIPA),focusing particularly on the status of the ocular surface. DESIGN: Observational case series...PURPOSE: To describe ocular manifestations in Japanese patients with congenital insensitivity to pain with anhidrosis (CIPA),focusing particularly on the status of the ocular surface. DESIGN: Observational case series. METHODS: Eighteen patients with CIPA underwent applicable ophthalmologic examinations,including visual acuity,refraction,slit-lamp examination,fundus examination,tear breakup time,Schirmer 1 test,corneal sensitivity,and corneal topography. RESULTS: Superficial punctate keratopathy (SPK) was observed at the interpalpebral area in 23 (64% ) of 36 eyes. Corneal opacity was observed in three eyes (8.3% ). Tear breakup time was below the lower limit of the normal range in all examined eyes,and the value of Schirmer 1 test was above the lower limit of the normal range in most of the examined eyes. CONCLUSIONS: Superficial punctate keratopathy is observed in most cases of CIPA,which might predispose patients to corneal infection. Investigation of dry eye in patients with CIPA will provide unique opportunities to explore the critical roles of the autonomic sympathetic nervous system as well as the sensory nervous system in the physiology of tear production.展开更多
UDP-sugars,as active forms of monosaccharides,play integral roles in glycosylation and biosynthesis of polysaccharides.Although enzymatic catalysis has achieved great process,the comparatively low productivity and the...UDP-sugars,as active forms of monosaccharides,play integral roles in glycosylation and biosynthesis of polysaccharides.Although enzymatic catalysis has achieved great process,the comparatively low productivity and the time-consuming enzyme purification processes restricted its practical applications.Here,we developed two CipA-dependent enzyme immobiliza-tion systems for synthesis of UDP-GlcNAc and UDP-GlcA.Initially,we selected and identified the enzyme combinations of PpAmgK and SeGlmU for UDP-GlcNAc(3.19 mM)synthesis,and AtGlcAK and BlUSP for UDP-GlcA(1.83 mM)synthesis.After optimizing the molar ratios of substrates,the production of UDP-GlcNAc and UDP-GlcA increased to 17.33 mM and 9.03 mM when setting UTP:GlcNAc:ATP and UTP:GlcA:ATP as 1:1:1 and 1:2:1,respectively.Then,the polyphosphokinase SePPK for recycling ADP and PPi was introduced,resulting in a significant increase in UDP-GlcNAc(29.33 mM)and UDP-GlcA(20.87 mM).Eventually,the CipA-based immobilization systems were developed for repetitive catalysis.The combinations of PSK-(G_(4)S)_(3)-CipA and CipA-(G_(4)S)_(3)-ABK yielded the comparable productions of UDP-GlcNAc(28.66 mM,17.40 g/L)and UDP-GlcA(20.34 mM,11.80 g/L)within 75 min.This study presents a convenient and reusable CipA-based enzyme immobilization system for synthesis of UDP-sugars,showing great potential for enzymatic production of UDP-GlcNAc and UDP-GlcA.展开更多
文摘PURPOSE: To describe ocular manifestations in Japanese patients with congenital insensitivity to pain with anhidrosis (CIPA),focusing particularly on the status of the ocular surface. DESIGN: Observational case series. METHODS: Eighteen patients with CIPA underwent applicable ophthalmologic examinations,including visual acuity,refraction,slit-lamp examination,fundus examination,tear breakup time,Schirmer 1 test,corneal sensitivity,and corneal topography. RESULTS: Superficial punctate keratopathy (SPK) was observed at the interpalpebral area in 23 (64% ) of 36 eyes. Corneal opacity was observed in three eyes (8.3% ). Tear breakup time was below the lower limit of the normal range in all examined eyes,and the value of Schirmer 1 test was above the lower limit of the normal range in most of the examined eyes. CONCLUSIONS: Superficial punctate keratopathy is observed in most cases of CIPA,which might predispose patients to corneal infection. Investigation of dry eye in patients with CIPA will provide unique opportunities to explore the critical roles of the autonomic sympathetic nervous system as well as the sensory nervous system in the physiology of tear production.
基金financially supported by the National Natural Science Foundation of China(32370066)the Fundamental Research Funds for the Central Universities(JUSRP622003)+1 种基金National First-class Discipline Program of Light Industry Technology and Engineering(QGJC20230202)the Postgraduate Research&Practice Innovation Program of Jiangsu Province(KYCX23_2487).
文摘UDP-sugars,as active forms of monosaccharides,play integral roles in glycosylation and biosynthesis of polysaccharides.Although enzymatic catalysis has achieved great process,the comparatively low productivity and the time-consuming enzyme purification processes restricted its practical applications.Here,we developed two CipA-dependent enzyme immobiliza-tion systems for synthesis of UDP-GlcNAc and UDP-GlcA.Initially,we selected and identified the enzyme combinations of PpAmgK and SeGlmU for UDP-GlcNAc(3.19 mM)synthesis,and AtGlcAK and BlUSP for UDP-GlcA(1.83 mM)synthesis.After optimizing the molar ratios of substrates,the production of UDP-GlcNAc and UDP-GlcA increased to 17.33 mM and 9.03 mM when setting UTP:GlcNAc:ATP and UTP:GlcA:ATP as 1:1:1 and 1:2:1,respectively.Then,the polyphosphokinase SePPK for recycling ADP and PPi was introduced,resulting in a significant increase in UDP-GlcNAc(29.33 mM)and UDP-GlcA(20.87 mM).Eventually,the CipA-based immobilization systems were developed for repetitive catalysis.The combinations of PSK-(G_(4)S)_(3)-CipA and CipA-(G_(4)S)_(3)-ABK yielded the comparable productions of UDP-GlcNAc(28.66 mM,17.40 g/L)and UDP-GlcA(20.34 mM,11.80 g/L)within 75 min.This study presents a convenient and reusable CipA-based enzyme immobilization system for synthesis of UDP-sugars,showing great potential for enzymatic production of UDP-GlcNAc and UDP-GlcA.
