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1.
Gut Liver ; 18(1): 77-84, 2024 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-38013476

RESUMO

Background/Aims: : This study aimed to review the indications, methods, cooperation, complications, and outcomes of percutaneous endoscopic gastrostomy (PEG). Methods: : Questionnaires were sent to 200 hospitals, of which 62 returned their questionnaires, with a response rate of approximately 30%. Descriptive statistics were calculated to analyze the responses to the questionnaires. Results: : In 2019, a total of 1,052 PEGs were performed in 1,017 patients at 62 hospitals. The main group who underwent PEG was older adult patients with brain disease, particularly stroke. Nutritional supply was an important purpose of the PEG procedure. "The pull method" was the most commonly used for initial PEG insertion. The complications related to PEG were mostly mild, with leakage being the most common. Patients who underwent PEG procedures were primarily educated regarding the post-procedure management and complications related to PEG. Preoperative meetings were skipped at >50% of the institutions. Regarding the cooperation between the nutrition support team (NST) and the physician performing PEG, few endoscopists answered that they cooperated with NST before and after PEG. Moreover, the rate of NST certification obtained by physicians performing PEG and the frequency of attendance at NST-related conferences were relatively low. Conclusions: : This study shows a similar trend to that found in the previous PEG guidelines. However, it covers new aspects, including team-based work for PEG procedure, nutrition support, and education for patients and guardians. Therefore, each medical institution needs to select an appropriate method considering the medical environment and doctor's abilities.


Assuntos
Nutrição Enteral , Gastrostomia , Humanos , Idoso , Nutrição Enteral/métodos , Gastrostomia/métodos , Gastroscopia/métodos , Inquéritos e Questionários , República da Coreia , Estudos Retrospectivos
2.
HLA ; 103(1): e15291, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37971080

RESUMO

HLA-DQA1*01:138 is identical to HLA-DQA1*01:03 except for a single nucleotide substitution in exon 3.


Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Análise de Sequência de DNA , Cadeias alfa de HLA-DQ/genética
3.
ACS Appl Mater Interfaces ; 15(48): 55692-55702, 2023 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-37981729

RESUMO

Aqueous zinc-vanadium hybrid redox flow battery systems are an efficient strategy to address the problems of low voltage and high cost of conventional all-vanadium redox flow batteries. However, the low electrochemical activity of carbon-based electrodes toward a vanadium redox reaction limits the performance of redox flow batteries. In this study, polyhedral binary cerium titanium oxide (Ce2/3TiO3, CTO) is synthesized using molten salt synthesis. CTO is fabricated by adjusting the temperature and composition. Notably, the prepared CTO obtained at 1000 °C shows the highest catalytic activity for a VO2+/VO2+ redox reaction. Further, CTO is prepared as a composite electrocatalyst and applied to a high-voltage aqueous zinc-vanadium redox flow battery. The cell adopts an alkali zinc electrolyte containing a Zn/[Zn(OH)4]2- redox pair and exhibits a high operating voltage of 2.26 V. Remarkably, a zinc-vanadium redox flow battery using the composite electrocatalyst exhibits a high energy density of 42.68 Wh L-1 at 20 mA cm-2 and an initial voltage efficiency of 90.3%. The excellent cell performance is attributed to structural defects caused by A-site deficiency in the perovskite oxide structure as well as oxygen vacancies resulting from the low valence state of the metal ion, which enhance the catalytic activity of the vanadium ions.

4.
RSC Adv ; 13(39): 27274-27282, 2023 Sep 08.
Artigo em Inglês | MEDLINE | ID: mdl-37705990

RESUMO

Lithium-sulfur batteries (LSB) are an attractive alternative electrochemical energy storage device compared to conventional lithium-ion batteries due to their higher theoretical capacity and energy density. Despite these advantages, it is still difficult to commercialize LSB because of poor electrochemical performance caused by the dissolution of soluble lithium polysulfides (LiPS). To solve these critical issues, a multi-functional separator was prepared using biomass-derived activated carbon (BAC) and a ceramic layer on the polyethylene (PE) separator. For this purpose, BAC was synthesized by a facile one-pot synthesis method by a specifically designed furnace using various forms of milk waste. The multi-functional separator suppresses the effect of LiPS dissolution and increases the Li+ diffusion kinetics. BAC was able to absorb the LiPS shuttle, as confirmed by UV-vis measurements and X-ray photoelectron spectroscopy (XPS). LSB cells assembled using this multi-functional separator show a higher discharge capacity of 1092.5 mA h g-1 at 0.1 C-rate, while commercial PE separators deliver a specific capacity of 811.8 mA h g-1. These novel separators were also able to suppress lithium dendrites during cycling. This work offers a novel and simple approach for streamlining the synthesis process of BAC and applying it to LSB, aiding in the development of sustainable energy sources.

5.
Int J Pharm ; 646: 123426, 2023 Nov 05.
Artigo em Inglês | MEDLINE | ID: mdl-37729976

RESUMO

Delivering protein drugs through dry powder inhalation (DPI) remains a significant challenge. Liposomes offer a promising solution, providing protection for proteins from external environment and controlled release capabilities. Furthermore, the use of non-ionic surfactants plays a crucial role in protecting the activity of proteins because of how the surfactants positioning themselves at the liquid-gas interface during the spray-drying process. In this study, lysozyme-loaded liposomal DPI formulations were prepared using various non-ionic surfactants, including polysorbate 80, poloxamer 188, poloxamer 407, and sucrose stearate. Lysozyme solution and 1,2-distearoyl-sn-glycero-3-phosphatidylcholine liposomes were subjected through high-pressure homogenization to form lysozyme-loaded liposomes. Formulations of homogenized lysozyme liposomes were spray-dried and further characterized. The particle size of reconstituted liposomal lysozyme DPI was from 129.5 to 816.9 nm. The formulations showed encapsulation efficiency up to 32.5% with zeta potential value of around - 30 mV, and spherical structures were observed. The aerosol dispersion performance of the dry powder inhalers was evaluated with emitted doses reaching up to 103% and fine particle fractions up to 28.4%. Significantly higher lysozyme activity was confirmed in formulation with drug to PS 80 ratio of 1: 0.5 w/w (92.1%) compared to that of formulation containing no surfactant (59.8%). The formulation stood out as the only formulation that maintained protein activity while demonstrating good aerosol performance.

6.
Biomol Ther (Seoul) ; 31(4): 395-401, 2023 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-37376952

RESUMO

Innate immunity is a first line defence system in the body which is for sensing signals of danger such as pathogenic microbes or host-derived signals of cellular stress. Pattern recognition receptors (PRR's), which present in the cell memebrane, are suspect the infection through pathogen-associated molecular patterns (PAMP), and activate innate immunity with response to promote inflammation via inflammatory cells such as macrophages and neutrophils, and cytokines. Inflammasome are protein complexes which are part of innate immunity in inflammation to remove pathogens and repair damaged tissues. What is the important role of inflammation in disease? In this review, we are focused on the action mechanism of NLRP3 inflammasome in inflammatory diseases such as asthma, atopic dermatitis, and sepsis.

7.
RSC Adv ; 13(12): 8299-8306, 2023 Mar 08.
Artigo em Inglês | MEDLINE | ID: mdl-36922954

RESUMO

During the growth of anodic TiO2 nanotubes with a high layer thickness of greater than 20 µm, "nanograss" structures are typically formed on the outermost surface. This happens due to the fact that the engraving of the oxide tubes arises during prolonged exposure to an F- ion containing electrolyte. These TiO2 nanotubular layers have a high aspect ratio with astonishing bundles of nanograss structures on the tube top and especially a high surface area with anatase crystallites in the tubes. By two-step anodization in synergy with the hybridization of a rubber polymer binder, freestanding nanotubular layers consisting of nanograssy surfaces with nano-crystalline particles in the tubes were successfully obtained. Under the highly efficient polysulfide trapping and electrolyte perturbation, this nanotubular hybrid membrane could deliver an enriched performance with a capacity of 618 mA h g-1 after 100 cycles at 0.1C in Li-S batteries.

8.
Nat Commun ; 14(1): 1111, 2023 02 27.
Artigo em Inglês | MEDLINE | ID: mdl-36849521

RESUMO

Transcription factors (TFs) are transported from the cytoplasm to the nucleus and disappear from the nucleus after they regulate gene expression. Here, we discover an unconventional nuclear export of the TF, orthodenticle homeobox 2 (OTX2), in nuclear budding vesicles, which transport OTX2 to the lysosome. We further find that torsin1a (Tor1a) is responsible for scission of the inner nuclear vesicle, which captures OTX2 using the LINC complex. Consistent with this, in cells expressing an ATPase-inactive Tor1aΔE mutant and the LINC (linker of nucleoskeleton and cytoskeleton) breaker KASH2, OTX2 accumulated and formed aggregates in the nucleus. Consequently, in the mice expressing Tor1aΔE and KASH2, OTX2 could not be secreted from the choroid plexus for transfer to the visual cortex, leading to failed development of parvalbumin neurons and reduced visual acuity. Together, our results suggest that unconventional nuclear egress and secretion of OTX2 are necessary not only to induce functional changes in recipient cells but also to prevent aggregation in donor cells.


Assuntos
Núcleo Celular , Genes Homeobox , Animais , Camundongos , Lisossomos , Divisão Celular , Matriz Nuclear , Vesícula
9.
Polymers (Basel) ; 14(10)2022 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-35631846

RESUMO

This paper presents findings obtained by evaluating the compressive strength, thermal conductivity, and durability of sand cylinder specimens stabilized with either epoxy emulsion (EM), acrylic polymer aqueous solution (APAS), EM-APAS mixture, or EM-APAS-lime mixture. Given the data obtained from the laboratory test, simulation analysis that uses a heat transfer fluid model of a ground-coupled heat pump (GCHP) system confirms the EM-APAS-lime binder performs best in the compressive strength and thermal conductivity; EM-APAS mixture performs best in the durability. However, the slake durability index of specimens containing EM-APAS-lime is equal to or greater than 80%. In addition, the compressive strength of sand stabilized with the EM-APAS-lime mixture is more than three times that of sand stabilized with cement. The thermal conductivity of sand stabilized with cement and that of sand treated with EM-APAS-lime mixture are 0.1 W/m·K and 0.9-1 W/m·K, respectively. It is confirmed that the heat collection of sand stabilized with EM-APAS-lime outperforms five times over that of sand stabilized with cement. These findings provide admissible evidence that the EM-APAS-lime mixture, which outperforms cement in compressive strength and thermal conductivity, is most suitable for ground improvement binder for GCHP systems.

10.
Small ; 18(21): e2200326, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35285157

RESUMO

The widespread adoption of Li-ion batteries is currently limited by their unstable electrochemical performance and high flammability under mechanical deformation conditions and a relatively low energy density. Herein, high-energy-density lithium-sulfur (Li-S) batteries are developed for applications in next-generation flexible electronics and electric vehicles with long cruising distances. Freestanding high-S-loading carbon nanotubes cathodes are assembled with a phosphorus (P)-doped carbon interlayer coated on commercial separators. Strategies for the active materials and structural design of both the electrodes and separators are highly efficient for immobilizing the lithium polysulfides via multimodal capturing effects; they significantly improve the electrochemical performance in terms of the redox kinetics and cycling stability. The foldable Li-S cells show stable specific capacities of 850 mAh g-1 over 100 cycles, achieving high gravimetric and volumetric energy densities of 387 Wh kgcell -1 and 395 Wh Lcell -1 , respectively. The Li-S cells show highly durable mechanical flexibilities under severe deformation conditions without short circuit or failure. Finally, the Li-S battery is explored as a light-weight and flexible energy storage device aboard airplane drones to ensure at least fivefold longer flight times than traditional Li-ion batteries. Nanocarbon-based S cathodes and P-doped carbon interlayers offer a promising solution for commercializing rechargeable Li-S batteries.

11.
ACS Appl Mater Interfaces ; 14(11): 13560-13571, 2022 Mar 23.
Artigo em Inglês | MEDLINE | ID: mdl-35258275

RESUMO

Efficient charge injection/extraction from/to contact electrodes is essential to realize organic electronic and optoelectronic devices with optimum characteristics for many applications. Herein, we studied a versatile reductive interlayer based on sodium borohydride (NaBH4) to control the contact properties of the staggered organic field-effect transistors (OFETs) either by doping and/or by regulating the contribution of charge carriers. The versatile functionalities of the NaBH4 layer are mainly determined by the alignment of frontier molecular orbitals of donor-acceptor (D-A) type copolymer semiconductors and the work function of the contact electrode. After incorporating the NaBH4 layer, the work function of the bottom-contact gold electrode can be decreased significantly by 1.0 eV, which makes it favorable to efficient electron injection. An Ohmic contact is achieved by the spontaneous injection of electrons to the n-type organic semiconductors with high electron affinity while converting the OFET operation mode to n-type characteristics by blocking the counter-charge carriers for the other types of ambipolar and p-type semiconductors. The solution-processed reducing agent can be a valuable approach to develop high-performance printed and flexible electronic devices through careful engineering to obtain proper contributions of charge carriers either as electrons or holes in various D-A copolymer semiconductors.

12.
Small Methods ; 6(2): e2101060, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35174996

RESUMO

Zn-MnO2 battery with mild-acid electrolytes has been considered as a promising alternative to Li-ion battery for safe and cost-effective energy storage systems (ESSs), and for full electrification. However, the governing mechanism of MnO2 electrochemistry has not been fully elucidated, hindering further advances in highly reversible MnO2 cathodes. Eventual Mn2+ ion dissolution into the electrolyte adversely triggers the irreversible loss of Mn2+ ions and the excessive precipitation of zinc hydroxyl sulfate (Zn4 SO4 (OH)6 ·xH2 O, ZHS), leading to irreversible capacity loss upon prolonged cycling. To overcome these drawbacks, a rationally renovated cell structure is proposed by integrating an acid-treated carbon supportive layer (aCSL) in the MnO2 cathode, which can play multifunctional roles rendering the additional reaction sites for the reversible formation/decomposition of ZHS and re-utilization of the dissolved Mn2+ ions. Furthermore, the improved affinity of the aCSL toward the electrolyte is beneficial for increasing active surface area and facilitating charge transfer at the cathode side. Benefiting from these features, compared to the conventional cell configuration, the aCSL-integrated Zn-MnO2 cell exhibits superior cycling over 3000 cycles with negligible capacity decay (85.6% retention) at a current of 3 A g-1 .

13.
Adv Sci (Weinh) ; 9(1): e2103826, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34802193

RESUMO

With the timely advent of the electric vehicle era, where battery stability has emerged as a major issue, all-solid-state batteries (ASSBs) have attracted significant attention as the game changer owing to their high stability. However, despite the introduction of a densely packed solid electrolyte (SE) layer, when Li is used to increase the energy density of the cell, the short-circuit problem caused by Li protrusion is unavoidable. Furthermore, most strategies to control nonuniform Li growth are so complicated that they hinder the practical application of ASSBs. To overcome these limitations, this study proposes an Ag-Li alloy anode via mass-producible roll pressing method. Unlike previous studies reporting solid-solution-based metal alloys containing a small amount of lithiophilic Ag, the in situ formed and Ag-enriched Ag-Li intermetallic layer mitigates uneven Li deposition and maintains a stable SE/Ag-Li interface, facilitating reversible Li operation. Contrary to Li cells showing frequent initial short-circuit, the cell incorporating the Ag-Li anode exhibits a better capacity retention of 94.3% for 140 cycles, as well as stable cycling even under 12 C. Through a facile approach enabling the fabrication of a large-area anode with controllable Li growth, this study provides practical insight for developing ASSBs with stable cyclabilities.

14.
Small Methods ; 5(11): e2100793, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34927966

RESUMO

Unlike commercial lithium-ion batteries, the high cost and low ionic conductivity of solid electrolytes (SEs) continues to be a big hurdle in commercially available all-solid-state batteries (ASSBs). Rather than the conventional dry-process and high-energy ball milling processes, the productive solution synthesis of bulk-type SEs is the most crucial issue in the successful application of high-energy-density ASSBs. In this study, the way is paved to overcome the hurdle for commercial lithium phosphorus sulfide chloride (LPSCl) SEs via a readily processable bulk-type solution-based synthesis without acquiring any high-energy ball-milling processes. By incorporating an elemental sulfur additive during the preparation process, Li2 S and S form a polysulfide, and P2 S5 is induced to react readily to provide LPSCl with excellent ion conductivity as high as 1.8 mS cm-1 . Surprisingly, the purity of bulk type precursors does not affect the final composition and ionic conductivity of sulfide electrolytes, which show the same electrochemical characteristics of ASSB cells with a high discharge capacity of 185.6 mA h g-1 . The study offers a promising strategy for saving the production cost of sulfide SEs, possibly up to 92%, and their commercial ASSBs are expected to be achieving a competitive cost per energy density of ≈0.46 $ W-1 .

15.
Nanotoxicology ; 15(9): 1180-1198, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34731582

RESUMO

To assess the in vivo impact of nanoplastics (NP) and coagulation-based purified NP (PurNP), this study analyzed for alterations in the biodistribution, toxicity and inflammatory response in ICR mice exposed to three different doses of NP (5, 25, and 50 mg/kg) and PurNP for 2 weeks. Except water consumption, which was dose-dependently and significantly increased in all NP-treated groups, most factors assessed for feeding behaviors and excretions remained constant, without any significant change. Orally administered NP was detected in the intestine, kidneys, and liver at all concentrations, although the accumulation was higher in the intestine than in the kidneys and liver. No significant alterations were detected in the levels of serum biochemical markers and histopathological structures. However, compared to the vehicle group, expressions of the inflammatory response proteins (iNOS and COX-2) and mRNA levels of the inflammatory cytokines were remarkably increased in the liver, kidneys, and intestine of NP-treated mice. A similar increase was detected in the oxidative stress responses, including ROS concentration, SOD activity, and Nrf2 expression. Furthermore, similar inflammatory responses were observed in the PurNP-treated group, as compared to the vehicle-treated group. The results presented in this study provide the first strong evidence that oral administration of NP for 2 weeks results in high accumulation in the liver, kidneys, and intestine of ICR mice, and induces severe inflammatory and oxidative stress responses. These results additionally confirm the efficacy of water purification using the tannic acid-mediated coagulation removal technique.


Assuntos
Microplásticos , Poliestirenos , Animais , Camundongos , Camundongos Endogâmicos ICR , Estresse Oxidativo , Poliestirenos/toxicidade , Distribuição Tecidual
16.
Nanomaterials (Basel) ; 11(11)2021 Oct 31.
Artigo em Inglês | MEDLINE | ID: mdl-34835688

RESUMO

Vertically aligned Fe, S, and Fe-S doped anatase TiO2 nanotube arrays are prepared by an electrochemical anodization process using an organic electrolyte in which lactic acid is added as an additive. In the electrolyte, highly ordered TiO2 nanotube layers with greater thickness of 12 µm, inner diameter of approx. 90 nm and outer diameter of approx. 170 nm are successfully obtained. Doping of Fe, S, and Fe-S via simple wet impregnation method substituted Ti and O sites with Fe and S, which leads to enhance the rate performance at high discharge C-rates. Discharge capacities of TiO2 tubes increased from 0.13 mAh cm-2(bare) to 0.28 mAh cm-2 for Fe-S doped TiO2 at 0.5 C after 100 cycles with exceptional capacity retention of 85 % after 100 cycles. Owing to the enhancement of thermodynamic and kinetic properties by doping of Fe-S, Li-diffusion increased resulting in remarkable discharge capacities of 0.27 mAh cm-2 and 0.16 mAh cm-2 at 10 C, and 30 C, respectively.

17.
Nanomaterials (Basel) ; 11(11)2021 Nov 04.
Artigo em Inglês | MEDLINE | ID: mdl-34835718

RESUMO

Lithium-sulfur batteries are considered as attractive candidates for next-generation energy storage systems originating from their high theoretical capacity and energy density. However, the severe shuttling of behavior caused by the dissolution of lithium polysulfide intermediates during cycling remains a challenge for practical applications. Herein, porous carbon materials co-doped with nitrogen and sulfur atoms were prepared through a facile hydrothermal reaction of graphene oxide and methylene blue to obtain a suitable host structure for regulating the lithium polysulfide shuttling behavior. Experimental results demonstrated that the abundant heteroatom-containing moieties in the carbon frameworks not only generated favorable active sites for capturing lithium polysulfide but also enhanced redox reaction kinetics of lithium polysulfide intermediates. Consequently, the corresponding sulfur composite electrodes exhibited excellent rate performance and cycling stability along with high Columbic efficiency. This work highlights the approach for the preparation of nitrogen and sulfur co-doped carbon materials derived from organic dye compounds for high performance energy storage systems.

18.
Int J Mol Sci ; 22(11)2021 May 29.
Artigo em Inglês | MEDLINE | ID: mdl-34072552

RESUMO

Indirect evidence has determined the possibility that microplastics (MP) induce constipation, although direct scientific proof for constipation induction in animals remains unclear. To investigate whether oral administration of polystyrene (PS)-MP causes constipation, an alteration in the constipation parameters and mechanisms was analyzed in ICR mice, treated with 0.5 µm PS-MP for 2 weeks. Significant alterations in water consumption, stool weight, stool water contents, and stool morphology were detected in MP treated ICR mice, as compared to Vehicle treated group. Also, the gastrointestinal (GI) motility and intestinal length were decreased, while the histopathological structure and cytological structure of the mid colon were remarkably altered in treated mice. Mice exposed to MP also showed a significant decrease in the GI hormone concentration, muscarinic acetylcholine receptors (mAChRs) expression, and their downstream signaling pathway. Subsequent to MP treatment, concentrations of chloride ion and expressions of its channel (CFTR and CIC-2) were decreased, whereas expressions of aquaporin (AQP)3 and 8 for water transportation were downregulated by activation of the mitogen-activated protein kinase (MAPK)/nuclear factor (NF)-κB signaling pathway. These results are the first to suggest that oral administration of PS-MP induces chronic constipation through the dysregulation of GI motility, mucin secretion, and chloride ion and water transportation in the mid colon.


Assuntos
Constipação Intestinal/diagnóstico , Constipação Intestinal/etiologia , Microplásticos/efeitos adversos , Fenótipo , Poliestirenos/efeitos adversos , Animais , Comportamento Animal , Biomarcadores , Fenômenos Químicos , Cloretos/metabolismo , Colo/patologia , Colo/ultraestrutura , Modelos Animais de Doenças , Suscetibilidade a Doenças , Hormônios Gastrointestinais/metabolismo , Motilidade Gastrointestinal , Bombas de Íon/metabolismo , Camundongos , Camundongos Endogâmicos ICR , Microplásticos/química , Mucinas/metabolismo , Poliestirenos/química , Transdução de Sinais , Água/metabolismo
19.
ACS Appl Mater Interfaces ; 13(1): 878-886, 2021 Jan 13.
Artigo em Inglês | MEDLINE | ID: mdl-33393755

RESUMO

Recently, metal-insulator-oxide semiconductor-metal (MIOSM) thin-film diodes (TFDs) have received attention as next-generation diodes due to their high rectification ratio and broad option on the operating voltage range. Nevertheless, precise turn-on voltage control of the MIOSM TFDs has been required for circuit design convenience. Here, we present a simple and accurate method of controlling the turn-on voltage of MIOSM TFDs. Studies on current-voltage characteristics reveal that controlling carrier injection into trap states in an insulator by oxygen vacancy variation of the oxide semiconductor plays a key role in the turn-on voltage shift of MIOSM TFDs. Moreover, by controlling the trap states in the insulator, the finely tuned turn-on voltages of the MIOSM TFDs are demonstrated for both low-voltage- and high-voltage-driving diodes. MIOSM TFDs with adjustable turn-on voltage, which can be built more efficiently and accurately, are expected to make oxide-based circuit designs more precise and straightforward.

20.
J AAPOS ; 25(4): 257-259.e2, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-28115293

RESUMO

Short stature with optic atrophy and Pelger-Huët anomaly (SOPH) syndrome has been known to cause optic atrophy and achromatopsia resulting from stationary cone dysfunction. This report describes foveal hypoplasia in a brother and sister with SOPH syndrome, which is associated with defects in the neuroblastoma amplified sequence (NBAS) gene. As NBAS gene may play an important role in retinal homeostasis, patients with SOPH should be monitored carefully for ocular abnormalities.


Assuntos
Neuroblastoma , Atrofia Óptica , Anomalia de Pelger-Huët , Feminino , Humanos , Masculino , Mutação , Proteínas de Neoplasias , Neuroblastoma/genética , Atrofia Óptica/diagnóstico , Atrofia Óptica/genética
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