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11.
Mehzabeen Rahman Mohita Sharma Pragati Aggarwal Silkee Singla Neha Jain 《Indian journal of ophthalmology》2022,70(7):2272
Homocystinuria is a rare metabolic inborn disorder caused due to dysfunctional cystathionine β-synthase (CBS) enzyme activity, thus resulting in elevated levels of methionine and homocysteine in the blood and urine. The timely recognition of this rare metabolic disorder and prompt methionine-restricted diet are crucial in lessening the systemic consequences. The recalcitrant cases have a higher risk for cardiovascular diseases, neurodegenerative diseases, neural tube defects, and other severe clinical complications. This review aims to present the ophthalmic spectrum of homocystinuria and its molecular basis, the disease management, as well as the current and potential treatment approaches with a greater emphasis on preventive strategies. 相似文献
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Covalent organic frameworks (COFs) are a new family of novel 2D materials which are highly sought after for integration into future sensors and other devices for their highly porous structures and large surface areas. However, low-temperature large-area growth of these semiconductive materials with a clean surface for direct device applications is still a challenging task. To provide an on-chip photonic device, a COF366-Quantum dot (COF366-QDs) thin-film-based device fabricated by in situ chemical vapor deposition (CVD) is presented. The high-resolution transmission electron microscopy (HRTEM) displays the formation of the periodic, crystalline and porous framework of the COF layer with mono-dispersed QDs of average particle size of ∼2.5–3 nm. The fabricated COF366-QD layer acts as a photoactive layer in the photonic device with an Au-COFQD-Au structure where a conduction path is formed between the metal electrodes through a network of COF layer with embedded QDs. The device shows photoactive response under 514 nm visible light with a very low dark current of 4.36 × 10−11 A with a minimum light detection capability of 160 nW and a responsivity of ∼3.42 A W−1. The photonic device was highly stable for successive switching cycles with very low attenuation. To our knowledge, this is the first report of a Quantum dot embedded COF366 thin-film by chemical vapor deposition. The proposed interfacing of COF366-QD thin-films on silicon substrate using in situ low-temperature CVD technique can be highly valuable for the development of transfer-free, clean, and low-cost preparation of industrial-scale organic electronics, optoelectronic device applications, and lab-on-chip based technologies for a wide range of future applications.Covalent organic frameworks (COFs) are a new family of novel 2D materials which are highly sought after for integration into future sensors and other devices for their highly porous structures and large surface areas. 相似文献
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Neha Shrestha Mauricio Torres Jason Zhang You Lu Leena Haataja Rachel B. Reinert Jeffrey Knupp Yu-Jie Chen Gunes Parlakgul Ana Paula Arruda Billy Tsai Peter Arvan Ling Qi 《The Journal of clinical investigation》2023,133(1)
Three principal ER quality-control mechanisms, namely, the unfolded protein response, ER-associated degradation (ERAD), and ER-phagy are each important for the maintenance of ER homeostasis, yet how they are integrated to regulate ER homeostasis and organellar architecture in vivo is largely unclear. Here we report intricate crosstalk among the 3 pathways, centered around the SEL1L-HRD1 protein complex of ERAD, in the regulation of organellar organization in β cells. SEL1L-HRD1 ERAD deficiency in β cells triggers activation of autophagy, at least in part, via IRE1α (an endogenous ERAD substrate). In the absence of functional SEL1L-HRD1 ERAD, proinsulin is retained in the ER as high molecular weight conformers, which are subsequently cleared via ER-phagy. A combined loss of both SEL1L and autophagy in β cells leads to diabetes in mice shortly after weaning, with premature death by approximately 11 weeks of age, associated with marked ER retention of proinsulin and β cell loss. Using focused ion beam scanning electron microscopy powered by deep-learning automated image segmentation and 3D reconstruction, our data demonstrate a profound organellar restructuring with a massive expansion of ER volume and network in β cells lacking both SEL1L and autophagy. These data reveal at an unprecedented detail the intimate crosstalk among the 3 ER quality-control mechanisms in the dynamic regulation of organellar architecture and β cell function. 相似文献
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Neha Shree Monica Gandhi Abhishek Dave Umang Mathur 《Indian journal of ophthalmology》2022,70(4):1239
Purpose:To carry out a prospective study to analyze the incidence and various preoperative, intraoperative, and postoperative risk factors for the development of PPKG.Methods:A total of 207 patients were analyzed prospectively, who were operated for penetrating keratoplasty (PK) in a tertiary eye care hospital between the time period of August 1, 2017 and February 28, 2018 and were followed up till the sixth month. Each patient was analyzed at every visit to determine the factors responsible for post-keratoplasty glaucoma.Results:Out of 207 eyes, post-PK glaucoma developed in 84 cases, which yielded an incidence of 41%. Incidence of PPKG (Post PK glaucoma) in various conditions was as follows: in repeat PK 62%, in perforated corneal ulcer 33%, in nonperforated corneal ulcer 29%, in corneal scar including adherent leukoma 37.2%, and in pseudophakic bullous keratopathy and aphakic bullous keratopathy, 14% and 80%, respectively. In age- and sex-adjusted multivariate analysis, the significant risk factors were age (P-value- 0.006), presence of PAS (P-value 0.001), and fellow eye glaucoma (P-value 0.04). Aphakia and combined surgery were not found to be significantConclusion:Our study recommends a meticulous examination of the fellow eye to assess the presence of glaucoma as it can increase the suspicion of glaucoma in the eye to be operated. The presence of PAS and age are important risk factors for developing PPKG. The risk of developing PPKG increases exponentially as the number of risk factors increases, but the presence of more than three risk factors does not add to the development of PPKG. 相似文献
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Intracerebroventricular (i.c.v.) administration of colchicine, a microtubule-disrupting agent, causes cognitive dysfunction and oxidative stress. The present study was designed to investigate the protective effects of quercetin against colchicine-induced memory impairment and oxidative damage in rats. An i.c.v. cannula was implanted in the lateral ventricle of male Wistar rats. Colchicine was administered at dose of 15 microg/rat. Morris water maze and plus-maze performance tests were used to assess memory tasks. Various biochemical parameters such as lipid peroxidation, reduced glutathione, nitrite level, acetylcholinesterase and proteins were also assessed. Central administration of colchicine (15 microg/rat) showed poor retention of memory. Chronic treatment with quercetin (20 and 40 mg/kg, p.o.) twice daily for a period of 25 days beginning 4 days prior to colchicine injection significantly improved the colchicine-induced cognitive impairment. Biochemical analysis revealed that i.c.v. colchicine injection significantly increased lipid peroxidation, nitrite and depleted reduced glutathione activity in the brains of rats. Chronic administration of quercetin significantly attenuated elevated lipid peroxidation and restored the depleted reduced glutathione, acetylcholinesterase activity and nitrite activity. The results of the present study clearly indicated that quercetin has a neuroprotective effect against colchicine-induced cognitive dysfunctions and oxidative damage. This article was published online on 3 November 2008. An error was subsequently identified. This notice is included in the online and print version to indicate that both have been corrected. 相似文献
19.
Extra-osseous masses are rarely seen in Gaucher disease. Here we present a case of a 30-year-old patient with Gaucher disease type 3, receiving β-glucocerebrosidase enzyme replacement therapy, who presented with slowly enlarging masses along her back. There was no osseous extension seen on imaging. Biopsy of the mass ultimately showed extensive soft tissue infiltration by Gaucher cells. No other cases of soft-tissue masses of this extent have been described in the literature, and therefore management remains unclear. 相似文献