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1.
Curr Probl Cardiol ; 49(2): 102226, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38040207

RESUMO

Scavenger Receptor Class B Type 1 (SR-B1), a receptor protein expressed on the cell membrane, plays a crucial role in the metabolism and transport of cholesterol and other lipids, contributing significantly to the homeostasis of lipid levels within the body. Bibliometric analysis involves the application of mathematical and statistical methods to quantitatively analyze different types of documents. It involves the analysis of structural and temporal trends in scholarly articles, coupled with the identification of subject emphasis and variations. Through a bibliometric analysis, this study examines the historical background, current research trends, and future directions in the exploration of SR-B1. By offering insights into the research status and development of SR-B1, this paper aims to assist researchers in identifying novel pathways and areas of investigation in this field of study. Following the screening process, it can be concluded that research on SR-B1 has consistently remained a topic of significant interest over the past 17 years. Interestingly, SR-B1 has recently garnered attention in areas beyond its traditional research focus, including the field of cancer. The primary objective of this review is to provide a concise and accessible overview of the development process of SR-B1 that can help readers who are not well-versed in SR-B1 research quickly grasp its key aspects. Furthermore, this review aims to offer insights and suggestions to researchers regarding potential future research directions and areas of emphasis relating to SR-B1.


Assuntos
Colesterol , Humanos , Colesterol/metabolismo , Receptores Depuradores Classe B/metabolismo
2.
Molecules ; 28(7)2023 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-37049938

RESUMO

Magnetic protective fabrics with fine wearability and great protective properties are highly desirable for aerospace, national defense, and wearable protective applications. The study of the controllable preparation method of Nd3+ doped in Fe3O4 nanoparticles with supposed magnetic properties remains a challenge. The characterization of the microstructure, elemental composition, and magnetic properties of NdFe2O4 nanoparticles was verified. Then, the surface of NdFe2O4 was treated with glyceric acid to provide sufficient -OH. Subsequently, the connection of the nanoparticle by the succinimide group was studied and then grafted onto cotton fabrics as its bridging effect. The optimal loading rate of the functional fabrics with nanoparticles of an average size of 230 nm was 1.37% after a 25% alkali pretreatment. The color fatness to rubbing results showed better stability after washing and drying. The corresponding hysteresis loop indicated that the functional fabrics exhibited typical magnetism behavior with a closed "S" shape and a magnetic saturation value of 17.61 emu.g-1 with a particle size of 230 nm. However, the magnetic saturation value of the cotton fabric of 90 nm was just 4.89 emu.g-1, exhibiting controllable preparation for the aimed electromagnetic properties and great potential in radiation protective fields. The electrochemical properties of the functional fabrics exhibited extremely weak electrical conductivity caused by the movement of the magnetic dipole derived from the NdFe2O4 nanoparticles.

3.
Nanoscale Adv ; 5(5): 1397-1404, 2023 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-36866259

RESUMO

Complete inorganic quantum dots (QDs) CdSe/CdS:Eu3+ with full transmittance were proposed as red color converters for white light emitting diodes (wLEDs) using a facile one-step melt quenching method. TEM, XPS, and XRD were used to verify the successful nucleation of CdSe/CdS:Eu3+ QDs in silicate glass. The results indicated that the incorporation of Eu contributed to the nucleation of CdSe/CdS QDs in silicate glass, where the nucleation time of the CdSe/CdS:Eu3+ QDs rapidly decreased in 1 h compared with other inorganic QDs that took more than 15 h. CdSe/CdS:Eu3+ inorganic QDs exhibited bright and long-term stable red luminescence under both UV and blue light excitation; up to 53.5% quantum yield and 8.05 ms fluorescence lifetime were obtained by adjusting the Eu3+ concentration. Based on the luminescence performance and absorption spectra, a possible luminescence mechanism was proposed. Moreover, the application potential of the CdSe/CdS:Eu3+ QDs in wLEDs was studied by coupling the CdSe/CdS:Eu3+ QDs and commercial Intematix G2762 green phosphor on a InGaN blue LED chip. Warm white light (5217 K) with 89.5 CRI and 91.1 lm W-1 luminous efficacy could be achieved. Additionally, 91% of the NTSC color gamut was obtained, demonstrating the great potential of the CdSe/CdS:Eu3+ inorganic QDs as a color converter for wLEDs.

4.
Polymers (Basel) ; 15(6)2023 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-36987314

RESUMO

Wearable flexible sensors with high sensitivity and wide detection range are applied in motion detection, medical diagnostic result and other fields, but poor resilience and hysteresis remain a challenge. In this study, a high-resilience foam sensor was prepared through a combination of additive manufacturing and green physical foaming method. The conductive filaments were prepared by using MWCNTs-modified TPU by the physical method of melt blending. Samples were prefabricated using the FFF printer and then saturated with CO2 in an autoclave before being removed and heated to foam. The composite foam effectively reduced residual strain, demonstrating the high resilience of the 3D-printed composite materials with a foam porous structure. The residual strain of the sample before foaming was >6% after a single cycle, and then gradually increased. The residual strain of the foamed samples is less than 5%. In addition, composite foam has high sensitivity and can monitor subtle pressure changes (0~40 kPa). The sensing performance of the composite foam was evaluated, and the current signal remained stable under different loading rates and small compression strains (2~5%). By using this highly resilient conductive composite material, a hierarchical shoe insole was designed that successfully detected human walking and running movements.

5.
Polymers (Basel) ; 15(2)2023 Jan 14.
Artigo em Inglês | MEDLINE | ID: mdl-36679327

RESUMO

The high mechanical strength, large specific surface area, favorable biocompatibility, and degradability of nanocellulose (CNC) enable it to be a potential alternative to petroleum-based materials. However, the traditional preparation of CNCs requires a large amount of strong acid, which poses a serious challenge to equipment maintenance, waste liquid recycling, and economics. In this study, a solid and easily recoverable zirconium phosphate (ZrP) was used to assist in the phosphoric acid co-catalyzed hydrolysis of lignocellulose for extracting CNCs. Due to the presence of acidic phosphate groups, ZrP has a strong active center with a high catalytic activity. With the assistance of ZrP, the amount of phosphoric acid used in the reaction is significantly reduced, improving the equipment's durability and economic efficiency. The effects of the process conditions investigated were the phosphate acid concentration, reaction temperature, and reaction time on the yield of CNCs. The Box-Behnken design (BBD) method from the response surface methodology (RSM) was applied to investigate and optimize the preparation conditions. The optimized pre-treatment conditions were 49.27% phosphoric acid concentration, 65.38 °C reaction temperature, and 5 h reaction time with a maximal cellulose yield (48.33%). The obtained CNCs show a granular shape with a length of 40~50 nm and a diameter of 20~30 nm, while its high zeta potential (-24.5 mV) make CNCs present a stable dispersion in aqueous media. Moreover, CNCs have a high crystallinity of 78.70% within the crystal type of cellulose Ⅰ. As such, this study may pioneer the horizon for developing a green method for the efficient preparation of CNC, and it is of great significance for CNCs practical production process.

6.
Front Immunol ; 13: 840916, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35720298

RESUMO

Introduction: Immune checkpoint inhibitors (ICIs) have now become the standard therapy for malignancies like non-small cell lung cancer and classical Hodgkin's lymphoma. ICIs are associated with unique immune-related adverse events (irAEs) caused by dysregulated immune activation. Treatment of lower gastrointestinal (GI) tract irAEs, such as colitis, is more common. However, for upper gastrointestinal tract irAEs, there is a lack of consensus in terms of globally standardized disease classification and treatment guidelines. Here, we report a case of sintilimab-induced acute erosive hemorrhagic gastritis. Case Presentation: A 54-year-old man with metastatic NSCLC (PT2N2M1 stage IV) underwent treatment with eight courses of sintilimab + bevacizumab, followed by maintenance therapy with sintilimab alone. However, he presented with epigastric pain and melena at the end of the first sintilimab treatment, and the symptoms occurred repeatedly after regular treatment with acute erosive hemorrhagic gastritis. Repeat esophagogastroduodenoscopy (EGD) showed severe hemorrhagic gastritis; symptomatic relief and improvement in EGD images were noted for as long as he was being treated with steroids, methylprednisolone sodium. Conclusion: As far as we are aware, we here describe the first case of sintilimab-associated acute erosive hemorrhagic gastritis, an upper gastrointestinal toxicity event. Throughout the treatment progression, differential diagnosis, multidisciplinary discussion, and the use of immunosuppressants were instrumental in clarifying the diagnosis and were crucial to the prognosis of the patient and continued treatment with ICIs.


Assuntos
Antineoplásicos Imunológicos , Carcinoma Pulmonar de Células não Pequenas , Gastrite , Neoplasias Pulmonares , Trato Gastrointestinal Superior , Anticorpos Monoclonais Humanizados , Antineoplásicos Imunológicos/uso terapêutico , Carcinoma Pulmonar de Células não Pequenas/tratamento farmacológico , Gastrite/induzido quimicamente , Gastrite/diagnóstico , Gastrite/tratamento farmacológico , Hemorragia Gastrointestinal/induzido quimicamente , Hemorragia Gastrointestinal/diagnóstico , Humanos , Neoplasias Pulmonares/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Trato Gastrointestinal Superior/patologia
7.
Environ Res ; 212(Pt B): 113459, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35588778

RESUMO

The synthetic strategies of achieving low-cost and high-performance nanofibers are of great significance in the field of catalysis and detection. In this work, a series of electrospun α-Fe2O3 nanofibers with hollow structure were prepared via combination technology of electrospinning, hydrothermal synthesis, and controlled calcination process. Especially, the influences of the crystal structure and morphology on the comprehensive properties of nanofibers have been explored in detail. The results indicated that α-Fe2O3 nanofibers could be obtained via the calcination at 600-800 °C. Rice-like α-Fe2O3 particles were observed to assemble a stable exoskeleton, supporting a robust tubular cavity. And this tubular structure turned gradually into groove-like structure as the calcination temperature increased, accompanied by tunable crystallization, specific surface area and magnetic property. Finally, combined with series of validation tests, including dye decolorization, electrochemical detection of trace cadmium ions and Fenton degradation of polyvinyl alcohol, the resultant α-Fe2O3 nanofibers have been demonstrated to show the potential application prospects.


Assuntos
Nanofibras , Catálise , Compostos Férricos/química , Álcool de Polivinil/química
8.
Animal Model Exp Med ; 5(2): 161-171, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-35234365

RESUMO

BACKGROUND: This study aims to assess the safety and efficacy of direct hemoperfusion using a new polymyxin B-immobilized resin column (disposable endotoxin adsorber, KCEA) in an endotoxin/ lipopolysaccharide (LPS)-induced sepsis model. METHODS: Eighteen beagles were randomized into 1 intervention group (KCEA group, n = 6) and 2 control groups (sham group and model group, n = 6 each). Sepsis was induced by continuous intravenous application of 0.5 mg/kg body weight of endotoxin for 60 min. An extracorporeal hemoperfusion device made with KCEA for endotoxin adsorption was used. Model group beagles received standard treatment with fluids and vasoactive drugs, KCEA group beagles received standard treatment and direct hemoperfusion of KCEA for 2 h, and sham group beagles were treated with standard treatment and direct hemoperfusion of a sham column for 2 h. RESULTS: Good blood compatibility of KCEA was confirmed by assessing clinical parameters. Blood endotoxin peak levels in the KCEA group were significantly lower, resulting in a significant suppression of IL-6, TNF-α and procalcitonin, which improved mean arterial pressure and significantly lowered vasopressor demand, thereby protecting organ function and improving survival time and rate. In the KCEA group, MAP was significantly higher over 6 h than those recorded both in the sham group and model group. The 7-day survival rates of the KCEA, sham and model groups were 50%, 0% and 0%, respectively. CONCLUSION: KCEA hemoadsorption was effective at detoxifying circulatory endotoxin and inflammatory mediators and contributed to the decreased mortality rate in the sepsis beagles.


Assuntos
Resinas Sintéticas , Sepse , Animais , Cães , Endotoxinas , Hemoperfusão , Lipopolissacarídeos/toxicidade , Polimixina B , Resinas Sintéticas/efeitos adversos , Resinas Sintéticas/uso terapêutico , Sepse/induzido quimicamente , Sepse/tratamento farmacológico , Resultado do Tratamento
9.
Polymers (Basel) ; 14(2)2022 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-35054707

RESUMO

Three-dimensional (3D) printing of continuous fiber-reinforced composites has been developed in recent decades as an alternative means to handle complex structures with excellent design flexibility and without mold forming. Although 3D printing has been increasingly used in the manufacturing industry, there is still room for the development of theories about how the process parameters affect microstructural properties to meet the mechanical requirements of the printed parts. In this paper, we investigated continuous carbon fiber-reinforced polyphenylene sulfide (CCF/PPS) as feedstock for fused deposition modeling (FDM) simulated by thermocompression. This study revealed that the samples manufactured using a layer-by-layer process have a high tensile strength up to 2041.29 MPa, which is improved by 68.8% compared with those prepared by the once-stacked method. Moreover, the mechanical-microstructure characterization relationships indicated that the compactness of the laminates is higher when the stacked CCF/PPS are separated, which can be explained based on both the void formation and the nanoindentation results. These reinforcements confirm the potential of remodeling the layer-up methods for the development of high-performance carbon fiber-reinforced thermoplastics. This study is of great significance to the improvement of the FDM process and opens broad prospects for the aerospace industry and continuous fiber-reinforced polymer matrix materials.

10.
Polymers (Basel) ; 13(21)2021 Oct 31.
Artigo em Inglês | MEDLINE | ID: mdl-34771330

RESUMO

Serving as matrices, polypropylene (PP) melt-blown nonwoven fabrics with 4% electrostatic electret masterbatch were incorporated with a 6%, 10%, 14%, or 18% phosphorus-nitrogen flame retardant. The test results indicate that the incorporation of the 6% flame retardant prevented PP melt-blown nonwoven fabrics from generating a molten drop, which, in turn, hampers the secondary flame source while increasing the fiber diameter ratio. With a combination of 4% electrostatic electret masterbatch and the 6% flame retardant, PP melt-blown nonwoven fabrics were grafted with ZIF-8 and Ag@ZIF-8. The antibacterial effect of ZIF-8 and Ag@ZIF-8 was 40% and 85%, respectively. Moreover, four reinforcing measures were used to provide Ag@ZIF-8 PP melt-blown nonwoven fabrics with synergistic effects, involving lamination, electrostatic electret, and Ag@ZIF-8 grafting, as well as a larger diameter because of the addition of phosphorus-nitrogen flame retardants. As specified in the GB2626-2019 and JIS T8151-2018 respiratory resistance test standards, with a constant 60 Pa, Ag@ZIF-8 PP melt-blown nonwoven membranes were tested for a filter effect against PM 0.3. When the number of lamination layers was five, the filter effect was 88 ± 2.2%, and the respiratory resistance was 51 ± 3.6 Pa.

11.
Carbohydr Polym ; 254: 117310, 2021 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-33357874

RESUMO

Aminated cellulose nanofibers (A-CNF) with high thermostability (>350 ℃), high crystallinity (81.25 %), and high dispersion stability were extracted from "biological grinding" biomass through one-pot microwave-hydrothermal synthesis. Worm-eaten wood powder (WWP) as the product of "biological grinding" by borers is a desirable lignocellulose for fabricating A-CNF in a green and cost-effective way since it is a well-milled fine powder with dimension of dozens of microns, which can be used directly, saving energy and labor. Generated A-CNF proved to be an excellent reinforcing and curing agent for constructing high performance epoxy nanocomposites. The nanocomposites exhibited a thermal conductivity enhancement of about 120 %, coefficient of thermal expansion reduction of 78 %, and Young's modulus increase of 108 % at a low A-CNF loading of 1 wt.%, demonstrating their remarkable reinforcing potential and effective stress transfer behavior. The process proposed herein might help to bridge a closed-loop carbon cycle in the whole production-utilization of biomass.


Assuntos
Celulose/química , Celulose/síntese química , Nanocompostos/química , Nanofibras/química , Condutividade Térmica , Aminação , Biomassa , Ciclo do Carbono , Módulo de Elasticidade , Compostos de Epóxi/química , Hidrólise , Lignina/química , Micro-Ondas , Pós , Resistência à Tração , Madeira/química
12.
Int J Mol Sci ; 21(12)2020 Jun 13.
Artigo em Inglês | MEDLINE | ID: mdl-32545791

RESUMO

Photothermal conversion materials have attracted wide attention due to their efficient utilization of light energy. In this study, a (GO)/Bi2S3-PVDF/TPU composite nanofiber membrane was systematically developed, comprising GO/Bi2S3 nanoparticles (NPs) as a photothermal conversion component and PVDF/TPU composite nanofibers as the substrate. The GO/Bi2S3 NPs were synthesized in a one-step way and the PVDF/TPU nanofibers were obtained from a uniformly mixed co-solution by electrospinning. GO nanoparticles with excellent solar harvesting endow the GO/Bi2S3-PVDF/TPU membrane with favorable photothermal conversion. In addition, the introduction of Bi2S3 NPs further enhances the broadband absorption and photothermal conversion properties of the GO/Bi2S3-PVDF/TPU composite membrane due to its perfect broadband absorption performance and coordination with GO. Finally, the results show that the GO/Bi2S3-PVDF/TPU composite membrane has the highest light absorption rate (about 95%) in the wavelength range of 400-2500 nm. In the 300 s irradiation process, the temperature changes in the GO/Bi2S3-PVDF/TPU composite membrane were the most significant and rapid, and the equilibrium temperature of the same irradiation time was 81 °C. Due to the presence of TPU, the mechanical strength of the composite film was enhanced, which is beneficial for its operational performance. Besides this, the morphology, composition, and thermal property of the membranes were evaluated by corresponding test methods.


Assuntos
Bismuto/química , Grafite/química , Sulfetos/química , Luz , Membranas Artificiais , Nanofibras/química , Polivinil/química
13.
Appl Opt ; 59(7): 2004-2010, 2020 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-32225720

RESUMO

Spectrum-fingerprint anti-counterfeiting fiber with double luminous centers was tentatively prepared using ${{\rm SrAl}_2}{{\rm O}_4}:{{\rm Eu}^{2 + }},{{\rm Dy}^{3 + }}$SrAl2O4:Eu2+,Dy3+, ${{\rm Sr}_2}{{\rm MgSi}_2}{{\rm O}_7}:{{\rm Eu}^{2 + }},{{\rm Dy}^{3 + }}$Sr2MgSi2O7:Eu2+,Dy3+, and PAN powder as main raw materials by wet spinning. The microstructure and spectral properties of the fiber were studied by means of scanning electron microscope (SEM), x-ray diffractometer (XRD), and a fluorescence spectrophotometer. The results showed that the two rare-Earth luminous materials were randomly dispersed on the interior and surface of the fiber. Due to the spinning process, the luminescent materials were agglomerated in fiber, and there were many voids in the fiber. Compared with pure rare-Earth luminous materials, the emission wavelength of the spectrum-fingerprint anti-counterfeiting fiber has no obvious shift, but the addition proportion and amount of two rare-Earth luminous materials have great influence on the spectral curve of the fiber. This fiber with two luminous centers maintains the basic characteristics of spectrum-fingerprint anti-counterfeiting fiber and is a new, to the best of our knowledge, type of anti-counterfeiting fiber with high anti-counterfeiting application potential.

14.
Water Sci Technol ; 80(9): 1673-1682, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32039899

RESUMO

In this work, titanium dioxide (TiO2) was modified with reduced graphene oxide (rGO), and then coated on filter paper to prepare the rGT/FP photoelectrode for the photoelectrocatalytic (PEC) decolorization of methylene blue (MB). The physicochemical properties of the rGT/FP photoelectrode were characterized using scanning electron microscopy (SEM), X-ray diffraction (XRD) analysis and UV-Vis diffuse reflectance spectroscopy (DRS). The decolorization results demonstrated that the photocatalytic (PC) and electrocatalytic (EC) efficiency of the photoelectrode could be significantly improved by the modification of rGO. The improvement of PC and EC efficiency might attribute to the existence of rGO, which could extend the light-harvesting efficiency, promote the photocurrent response value and suppress the charge recombination. Furthermore, the PEC decolorization of MB using the rGT/FP photoelectrode presented higher efficiency than the sum of PC and EC decolorization, indicating the synergistic effect between the photo and electrical energy.


Assuntos
Grafite , Azul de Metileno , Catálise , Luz , Titânio
15.
Brain Behav ; 9(1): e01167, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30506906

RESUMO

INTRODUCTION: Emery-Dreifuss muscular dystrophy (EDMD) is a hereditary myopathy characterized as triad of muscular dystrophy, joint contractures, and conduction cardiomyopathy. In this study, we diagnosed a X-linked recessive EDMD patient with severe conduction cardiomyopathy while noteless muscular and joint disorders. METHODS: A Chinese cardiomyopathy family spanning four generations was enrolled in the study. Targeted next-generation sequencing (NGS) was performed to identify the underlying mutation in the proband and validated by Sanger sequencing. Segregation analysis was applied to all 13 participants. RESULTS: A novel frameshift mutation (c.253_254insT, p.Y85Lfs*8) of emerin gene (EMD) was found and co-segregated with family members. Other than the typical manifestations of X-linked EDMD, this patient presented inconspicuous muscular disorders which were later diagnosed after the mutation been identified. CONCLUSIONS: This study enriches the EMD gene mutation database and reminds us of the possibility of EDMD while encountering patients with severe heart rhythm defects or dilated cardiomyopathy of unknown etiology, even if they have neither obvious skeletal muscle disorder nor joint involvement.


Assuntos
Doença do Sistema de Condução Cardíaco , Cardiomiopatias/genética , Proteínas de Membrana/genética , Distrofia Muscular de Emery-Dreifuss , Proteínas Nucleares/genética , Povo Asiático , Doença do Sistema de Condução Cardíaco/diagnóstico , Doença do Sistema de Condução Cardíaco/etiologia , Cardiomiopatias/complicações , Cardiomiopatias/diagnóstico , Cardiomiopatias/fisiopatologia , Ecocardiografia/métodos , Família , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/patologia , Distrofia Muscular de Emery-Dreifuss/diagnóstico , Distrofia Muscular de Emery-Dreifuss/genética , Mutação
16.
Materials (Basel) ; 11(9)2018 Sep 19.
Artigo em Inglês | MEDLINE | ID: mdl-30235875

RESUMO

In this paper, innovative capric⁻palmitic⁻stearic acid ternary eutectic/polyacrylonitrile/aluminum oxide (CA⁻PA⁻SA/PAN/Al2O3) form-stable phase change composite fibrous membranes (PCCFMs) with different mass ratios of Al2O3 nanoparticles were prepared for thermal energy storage. The influences of Al2O3 nanoparticles on morphology and thermal performances of the form-stable PCCFMs were investigated by scanning electron microscopy (SEM), differential scanning calorimetry (DSC), and measurement of melting and freezing times, respectively. The results showed that there was no apparent leakage trace from the SEM observation. The DSC analysis indicated that the addition of Al2O3 nanoparticles had no significant effect on phase transition temperatures and enthalpies of the CA⁻PA⁻SA/PAN/Al2O3 form-stable PCCFMs. The melting peak temperatures and melting enthalpies of form-stable PCCFMs were about 25 °C and 131⁻139 kJ/kg, respectively. The melting and freezing times of the CA⁻PA⁻SA/PAN/Al2O310 form-stable PCCFMs were shortened by approximately 21% and 23%, respectively, compared with those of the CA⁻PA⁻SA/PAN form-stable PCCFMs due to the addition of Al2O3 nanoparticles acting as heat transfer fillers.

17.
Mol Med Rep ; 17(1): 382-387, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29115431

RESUMO

Patients with combined hereditary spherocytosis (HS) and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) deficiency have been reported sporadically. A discrepancy between the level of elevated serum bilirubin concentration and the degree of anemia may suggest the possibility of a coexistence of these conditions. In the present case report, a 20­year­old female presented with congenital jaundice and anemia, but did not present with the discrepancy between hyperbilirubinemia and anemia in the patient's childhood, and was not previously diagnosed with either HS or UGT1A1 deficiency. During a follow­up of >10 years, the patient's hyperbilirubinemia accumulated progressively, whereas the patient's anemia became relatively mild. Upon further genetic analysis, it was determined that the patient had HS combined with UGT1A1 partial deficiency. Next generation sequencing combined with direct sequencing was used to identify a novel heterozygous mutation (c.G828T; p.Y276X) in the spectrin ß gene, which is causative for HS. Sequence analysis of the patients' UGT1A1 gene revealed a compound heterozygote with c.G211A (p.G71R) and T3279G mutations, which reduced UGT1A1 activity to 30­60% of the normal level. Genetic analysis was crucial for determining the diagnosis and pathogenesis of this unusual case.


Assuntos
Glucuronosiltransferase/genética , Esferocitose Hereditária/diagnóstico , Esferocitose Hereditária/genética , Biomarcadores , Análise Mutacional de DNA , Feminino , Estudos de Associação Genética , Testes Genéticos , Genótipo , Glucuronosiltransferase/deficiência , Humanos , Mutação , Fenótipo , Espectrina/genética , Esferócitos/patologia , Esferocitose Hereditária/sangue , Adulto Jovem
18.
Turk J Pediatr ; 60(4): 426-428, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30859768

RESUMO

Zhao C, Li Y, Shi G, Shi X, Zhang G. A novel Y160C mutation of Keratin 10 gene in a Chinese male infant with epidermolytic hyperkeratosis. Turk J Pediatr 2018; 60: 426-428. Epidermolytic hyperkeratosis (EHK) is a rare genodermatosis whose prevalence is less than 1 in 100,000. Mutations in either the keratin 1 or keratin 10 genes lead to EHK characterized by congenital erythema and epidermal blisters at birth, followed by hyperkeratotic skin lesions with age. We here report a 1-and-a-half-year-old male infant with EHK caused by a novel mutation, c.479A > G, g.489A > G, p. Y160C, of the keratin 10 gene. Mutation at this position has been reported previously, but the type of amino acid change was different. These results expand the database of keratin 10 gene mutations.


Assuntos
Povo Asiático/genética , Hiperceratose Epidermolítica/genética , Queratina-10/genética , Humanos , Lactente , Masculino , Mutação
19.
Sci Rep ; 7(1): 9686, 2017 08 29.
Artigo em Inglês | MEDLINE | ID: mdl-28851954

RESUMO

Pachydermoperiostosis (PDP) is a rare inherited multisystem disease characterized with digital clubbing, pachydermia and periostosis. Variants in either HPGD or SLCO2A1 that interrupt the prostaglandin E2 (PGE2) pathway have been shown to be involved in PDP. Here, in addition to six confirmed variants in HPGD or SLCO2A1, we identified four novel SLCO2A1 variants in eight PDP patients from seven Chinese Han families. In addition, gastric mucosa hyperplasia was observed in all affected individuals and interleukin-6 (IL-6), tumor necrosis factor-alpha (TNFα) and receptor activator of nuclear factor kappa ligand (RANKL) expression were elevated in hypertrophic gastric mucosa. Two of eight patients who had severe arthralgia were treated with celecoxib. After three months, their arthralgia was partly relieved and IL-6, TNFα and RANKL expression were decreased in accordance with their relieved hypertrophic gastric mucosa. Our study broadens the variation spectrum of SLCO2A1 and suggests that the gastric mucosa hyperplasia might be a common characteristic of PDP. Moreover, celecoxib would be a considerable choice for PDP patients. We also revealed that IL-6, TNFα and RANKL may play important roles in the molecular mechanisms of gastric mucosa hyperplasia in PDP for the first time.


Assuntos
Mucosa Gástrica/metabolismo , Mucosa Gástrica/patologia , Interleucina-6/metabolismo , Osteoartropatia Hipertrófica Primária/metabolismo , Osteoartropatia Hipertrófica Primária/patologia , Ligante RANK/metabolismo , Fator de Necrose Tumoral alfa/metabolismo , Biomarcadores , Biópsia , Celecoxib/uso terapêutico , Análise Mutacional de DNA , Humanos , Hipertrofia , Imuno-Histoquímica , Interleucina-6/genética , Oxirredutases Intramoleculares/genética , Oxirredutases Intramoleculares/metabolismo , Masculino , Mutação , Transportadores de Ânions Orgânicos/genética , Transportadores de Ânions Orgânicos/metabolismo , Osteoartropatia Hipertrófica Primária/tratamento farmacológico , Osteoartropatia Hipertrófica Primária/genética , Linhagem , Fenótipo , Ligante RANK/genética , Fator de Necrose Tumoral alfa/genética
20.
Guang Pu Xue Yu Guang Pu Fen Xi ; 22(3): 384-6, 2002 Jun.
Artigo em Chinês | MEDLINE | ID: mdl-12938310

RESUMO

Free electron laser (FEL) have been developed as tunable lasers over a wide range of wavelenths. Equipment in the region of 6-16 microns (1,660-630 cm-1) is available in the Beijing free electron laser erected by Institute of High Energy Physics, CAS. In this study we report first measurements of infrared-induced molecular change under irradiation by FEL of 9.414 microns and 6.228 microns, respectively. Taking o-amino-benzoic acid as an example, FTIR characterization indicates that the peak positions of both N-H and C=O stretching vibrations shift before and after the irradiation of FEL. It demonstrates that FEL induces the re-arrangement of H-bonds between COOH and NH2 by stimulating the vibration of carboxyl groups. It suggests that the presence of stable/metastable phases in the title compound.


Assuntos
Elétrons , Lasers , ortoaminobenzoatos/química , Ligação de Hidrogênio , Estrutura Molecular , Fotoquímica , Espectroscopia de Infravermelho com Transformada de Fourier , Vibração
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