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Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations.
Par Antoine Blanchard et Mélodie Faury pour le collectif Révoluscience Billet publié simultanément sur Sciences et Démocratie et Knowtex Blog Les "lieux" des réactions Plusieurs dispositifs avaient été mis en place pour recueillir les réactions des lecteurs, d'abord sur le blog du manifeste où les commentaires étaient possibles sous chaque proposition, puis sur un site de travail collaboratif permettant d’en annoter le texte, paragraphe par paragraphe. On alliait ainsi critique d'un côté et..
Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations.
OBJECTIVE: To characterize the phenotypes of Dent disease in Chinese children and their heterozygous mothers and to establish genetic diagnoses. STUDY DESIGN: Using a modified protocol, we screened 1288 individuals with proteinuria. A diagnosis of Dent disease was established in 19 boys from 16 families by the presence of loss of function/deleterious mutations in CLCN5 or OCRL1. We also analyzed 16 available patients' mothers and examined their pregnancy records. RESULTS: We detected 14 loss of function/deleterious mutations of CLCN5 in 15 boys and 2 mutations of OCRL1 in 4 boys. Of the patients, 16 of 19 had been wrongly diagnosed with other diseases and 11 of 19 had incorrect or unnecessary treatment. None of the patients, but 6 of 14 mothers, had nephrocalcinosis or nephrolithiasis at diagnosis. Of the patients, 8 of 14 with Dent disease 1 were large for gestational age (>90th percentile); 8 of 15 (53.3%) had rickets. We also present predicted structural changes for 4 mutant proteins. CONCLUSIONS: Pediatric Dent disease often is misdiagnosed; genetic testing achieves a correct diagnosis. Nephrocalcinosis or nephrolithiasis may not be sensitive diagnostic criteria. We identified 10 novel mutations in CLCN5 and OCRL1. The possibility that altered CLCN5 function could affect fetal growth and a possible link between a high rate of rickets and low calcium intake are discussed
Tailoring Azlactone-Based Block Copolymers for Stimuli-Responsive Disassembly of Nanocarriers
Research on the Relationship between Computer Educational Technology and the Teaching Reform of International Economy and Trade Specialty
Elastomeric Liquid-Free Conductor for Iontronic Devices
For
a long time, the potential application of gel-based
ionic devices
was limited by the problem of liquid leakage or evaporation. Here,
we utilized amorphous, irreversible and reversible cross-linked polyTA
(PTA) as a matrix and lithium bis(trifluoromethane sulfonamide) (LiTFSI)
as an electrolyte to prepare a stretchable (495%) and self-healing
(94%) solvent-free elastomeric ionic conductor. The liquid-free ionic
elastomer can be used as a stable strain sensor to monitor human activities
sensitively under extreme temperatures. Moreover, the prepared elastic
conductor (TEOA0.10-PTA@LiTFSI) was also considered an
electrode to assemble with self-designed repairable dielectric organosilicon
layers (RD-PDMS) to develop a sustainable triboelectric nanogenerator
(SU-TENG) with outstanding performance. SU-TENG maintained good working
ability under extreme conditions (−20 °C, 60 °C,
and 200% strain). This work provided a low-cost and simple idea for
the development of reliable iontronic equipment for human–computer
interaction, motion sensing, and sustainable energy
Elastomeric Liquid-Free Conductor for Iontronic Devices
For
a long time, the potential application of gel-based
ionic devices
was limited by the problem of liquid leakage or evaporation. Here,
we utilized amorphous, irreversible and reversible cross-linked polyTA
(PTA) as a matrix and lithium bis(trifluoromethane sulfonamide) (LiTFSI)
as an electrolyte to prepare a stretchable (495%) and self-healing
(94%) solvent-free elastomeric ionic conductor. The liquid-free ionic
elastomer can be used as a stable strain sensor to monitor human activities
sensitively under extreme temperatures. Moreover, the prepared elastic
conductor (TEOA0.10-PTA@LiTFSI) was also considered an
electrode to assemble with self-designed repairable dielectric organosilicon
layers (RD-PDMS) to develop a sustainable triboelectric nanogenerator
(SU-TENG) with outstanding performance. SU-TENG maintained good working
ability under extreme conditions (−20 °C, 60 °C,
and 200% strain). This work provided a low-cost and simple idea for
the development of reliable iontronic equipment for human–computer
interaction, motion sensing, and sustainable energy