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1.
Am J Med Genet A ; 188(10): 3096-3099, 2022 10.
Article in English | MEDLINE | ID: mdl-35915932

ABSTRACT

Autosomal recessive osteopetrosis (ARO) is a group of disease characterized by osteoclast dysfunction inhibiting bone resorption and bone turnover, with TCIRG1-associated ARO being more common leading to autosomal recessive infantile malignant osteopetrosis (OPTB1, MIM entry number # 259700). While most patients with TCIRG1-associated osteopetrosis present a malignant clinical course and shortened lifespan, a few cases of non-malignant TCIRG1-associated osteopetrosis have been reported. 24-year-old female patient came to us with limp gait, hip pain in both sides, and severe stiffness. She had suffered many fractures, bilateral hip osteoarthritis, right leg was 2 cm shorter compared with left leg. Whole Exome Sequencing was conducted, the result and subsequent Sanger's sequencing shown the patient had a compound heterozygous genotype at TCIRG1 (c.1194dup, p.Gly399ArgTer and c.334G>A, p.Gly112Arg), these two variants found were not previously reported. Sanger's sequencing revealed two other siblings whom suffer the same disorder had similar genotype to the proband; the parents were found to be heterozygous. This is the first case of TCIRG1-associated osteopetrosis reported in Vietnam and one of the few cases of nonmalignant TCIRG1-associated osteopetrosis, in which detailed clinical and genetic work-up were performed.


Subject(s)
Osteopetrosis , Vacuolar Proton-Translocating ATPases , Adult , Female , Humans , Mutation , Osteopetrosis/diagnosis , Osteopetrosis/genetics , Siblings , Vacuolar Proton-Translocating ATPases/genetics , Vietnam , Young Adult
2.
ACS Appl Mater Interfaces ; 10(38): 32492-32500, 2018 Sep 26.
Article in English | MEDLINE | ID: mdl-30129359

ABSTRACT

We report synthesis of a new poly(4-(4,4-bis(2-ethylhexyl)-4 H-silolo[3,2- b:4,5- b']dithiophene-2-yl)-7-(4,4-bis(2-ethylhexyl)-6-(selenophene-2-yl)-4 H-silolo[3,2- b:4,5- b']dithiophene-2-yl)-5,6-difluorobenzo[ c][1,2,5]thiadiazole (PDFDSe) polymer based on planar 4,7-bis(4,4-bis(2-ethylhexyl)-4 H-silolo[3,2- b:4,5- b']dithiophen-2-yl)-5,6-difluorobenzo[ c][1,2,5]thiadiazole (DFD) moieties and selenophene linkages. The planar backboned PDFDSe polymer exhibits highest occupied molecular orbital and lowest unoccupied molecular orbital levels of -5.13 and -3.56 eV, respectively, and generates well-packed highly crystalline states in films with exclusive edge-on orientations. PDFDSe thin film was incorporated as a channel material in top-gate bottom-contact organic thin-film transistor with a solid-state electrolyte gate insulator (SEGI) composed of poly(vinylidene difluoride-trifluoroethylene)/poly(vinylidene fluoride- co-hexafluroropropylene)/1-ethyl-3-methylimidazolium bis(trifluoromethylsulfonyl)imide, which exhibited a remarkably high hole mobility up to µ = 20.3 cm2 V-1 s-1 corresponding to effective hole mobility exceeding 5 cm2 V-1 s-1 and a very low threshold voltage of -1 V. These device characteristics are associated with the high carrier density in the semiconducting channel region, induced by the high capacitance of the SEGI layer. The excellent carrier mobility from the PDFDSe/SEGI device demonstrates a great potential of semiconducting polymer thin-film transistors as electronic components in future electronic applications.

3.
ACS Appl Mater Interfaces ; 9(46): 40503-40515, 2017 Nov 22.
Article in English | MEDLINE | ID: mdl-29090568

ABSTRACT

We report high-performance top-gate bottom-contact flexible polymer field-effect transistors (FETs) fabricated by flow-coating diketopyrrolopyrrole (DPP)-based and naphthalene diimide (NDI)-based polymers (P(DPP2DT-T2), P(DPP2DT-TT), P(DPP2DT-DTT), P(NDI2OD-T2), P(NDI2OD-F2T2), and P(NDI2OD-Se2)) as semiconducting channel materials. All of the polymers displayed good FET characteristics with on/off current ratios exceeding 107. The highest hole mobility of 1.51 cm2 V-1 s-1 and the highest electron mobility of 0.85 cm2 V-1 s-1 were obtained from the P(DPP2DT-T2) and P(NDI2OD-Se2) polymer FETs, respectively. The impacts of the polymer structures on the FET performance are well-explained by the interplay between the crystallinity, the tendency of the polymer backbone to adopt an edge-on orientation, and the interconnectivity of polymer fibrils in the film state. Additionally, we demonstrated that all of the flexible polymer-based FETs were highly resistant to tensile stress, with negligible changes in their carrier mobilities and on/off ratios after a bending test. Conclusively, these high-performance, flexible, and durable FETs demonstrate the potential of semiconducting conjugated polymers for use in flexible electronic applications.

4.
ACS Appl Mater Interfaces ; 9(34): 28817-28827, 2017 Aug 30.
Article in English | MEDLINE | ID: mdl-28783949

ABSTRACT

High carrier mobilities have recently been achieved in polymer field effect transistors (FETs). However, many of these polymer FET devices require the use of chlorinated solvents such as chloroform (CF), chlorobenzene (CB), and o-dichlorobenzene (DCB) during fabrication. The use of these solvents is highly restricted in industry because of health and environmental issues. Here, we report the synthesis of a low band gap (1.43 eV, 870 nm) semiconducting polymer (PDPP2DT-F2T2) having a planar geometry, which can be readily processable with nonchlorinated solvents such as toluene (TOL), o-xylene (XY), and 1,2,4-trimethylbenzene (TMB). We performed structural characterization of PDPP2DT-F2T2 films prepared from different solvents, and the electrical properties of the films were measured in the context of FETs. The devices exhibited an ambipolar behavior with hole dominant transport. Hole mobilities increased with increasing boiling point (bp) of the nonchlorinated solvents: 0.03, 0.05, and 0.10 cm2 V-1 s-1 for devices processed using TOL, XY, and TMB, respectively. Thermal annealing further improved the FET performance. TMB-based polymer FETs annealed at 200 °C yielded a maximum hole mobility of 1.28 cm2 V-1 s-1, which is far higher than the 0.43 cm2 V-1 s-1 obtained from the CF-based device. This enhancement was attributed to increased interchain interactions as well as improved long-range interconnection between fibrous domains. Moreover, all of the nonchlorinated solutions generated purely edge-on orientations of the polymer chains, which is highly beneficial for carrier transport in FET devices. Furthermore, we fabricated an array of flexible TMB-processed PDPP2DT-F2T2 FETs on the plastic PEN substrates. These devices demonstrated excellent carrier mobilities and negligible degradation after 300 bending cycles. Overall, we demonstrated that the organized assembly of polymer chains can be achieved by slow drying using high bp nonchlorinated solvents and a post thermal treatment. Furthermore, we showed that polymer FETs processed using high bp nonhalogenated solvents may outperform those processed using halogenated solvents.

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