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1.
Int J Mol Sci ; 25(14)2024 Jul 21.
Artigo em Inglês | MEDLINE | ID: mdl-39063209

RESUMO

'Duli' (Pyrus betulifolia Bunge) is one of the main rootstocks of pear trees in China. Gibberellin (GA) is a key plant hormone and the roles of GA in nitrate (NO3-) uptake and metabolism in plants remain unclear. In this study, we investigated the effects of exogenous GA3 on the N metabolism of 'Duli' seedlings under NO3- deficiency. The results showed that exogenous GA3 significantly improves 'Duli' growth under NO3- deficiency. On the one hand, GA3 altered the root architecture, increased the content of endogenous hormones (GA3, IAA, and ZR), and enhanced photosynthesis; on the other hand, it enhanced the activities of N-metabolizing enzymes and the accumulation of N, and increased the expression levels of N absorption (PbNRT2) and the metabolism genes (PbNR, PbGILE, PbGS, and PbGOGAT). However, GA3 did not delay the degradation of chlorophyll. Paclobutrazol had the opposite effect on growth. Overall, GA3 can increase NO3- uptake and metabolism and relieve the growth inhibition of 'Duli' seedlings under NO3- deficiency.


Assuntos
Giberelinas , Nitratos , Nitrogênio , Pyrus , Plântula , Plântula/metabolismo , Plântula/crescimento & desenvolvimento , Plântula/efeitos dos fármacos , Nitratos/metabolismo , Giberelinas/metabolismo , Nitrogênio/metabolismo , Pyrus/metabolismo , Pyrus/genética , Pyrus/crescimento & desenvolvimento , Pyrus/efeitos dos fármacos , Regulação da Expressão Gênica de Plantas/efeitos dos fármacos , Fotossíntese/efeitos dos fármacos , Raízes de Plantas/metabolismo , Raízes de Plantas/crescimento & desenvolvimento , Raízes de Plantas/efeitos dos fármacos , Reguladores de Crescimento de Plantas/metabolismo , Clorofila/metabolismo
2.
Small ; : e2307216, 2023 Dec 11.
Artigo em Inglês | MEDLINE | ID: mdl-38078782

RESUMO

Phosphors with narrow-band green emissions and high photoluminescent quantum efficiency (PLQY) are significantly required for backlighting displays with wider color gamut. In this work, two centimeter-sized manganese (II) halide single crystals TMG2 MnCl4 and TMG2 MnBr4 (TMG = 1,1,3,3-tetramethylguanidine) are synthesized, exhibiting bright narrow-band green emissions with high PLQYs up to 62% and 90%, respectively. The narrow-band green light emission is located at 520 nm with a full-width at half-maximum (FWHM) of only 57 nm. The photoluminescence mechanisms of two single crystals are elaborated. Two white-light-emitting diodes for backlighting displays (BD-WLEDs) based on them are fabricated, exhibiting the widest color gamut of 122% National Television Standards Committee (NTSC), and a luminous efficacy reached ≈93 lm W-1 with excellent luminescence stability at high temperatures. These properties indicate the potential applications of tetrahedral manganese (II) hybrids in wide-color gamut backlighting displays.

3.
Inorg Chem ; 62(24): 9722-9731, 2023 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-37285221

RESUMO

Organic-inorganic hybrid metal halides have attracted widespread attention due to their excellent tunability and versatility. Here, we have selected pyridinium derivatives with different substituent groups or substitution positions as the organic templating cations and obtained six 1D chain-like structures. They are divided into three types: type I (single chain), type II (double chain), and type III (triple chain), with tunable optical band gaps and emission properties. Among them, only (2,4-LD)PbBr3 (2,4-LD = 2,4-lutidine) shows an exciton-dependent emission phenomenon, ranging from strong yellow-white to weak red-white light. By comparing its photoluminescence spectrum with that of its bromate (2,4-LD)Br, it is found that the strong yellow-white emission at 534 nm mainly came from the organic component. Furthermore, through a comparison of the fluorescence spectra and lifetimes of (2,4-LD)PbBr3 and (2-MP)PbBr3 (2-MP = 2-methylpyridine) with similar structures at different temperatures, we confirm that the tunable emission of (2,4-LD)PbBr3 comes from different photoluminescent sources corresponding to organic cations and self-trapped excitons. Density functional theory calculations further reveal that (2,4-LD)PbBr3 has a stronger interaction between organic and inorganic components compared to (2-MP)PbBr3. This work highlights the importance of organic templating cations in hybrid metal halides and the new functionalities associated with them.

4.
Am J Hum Genet ; 105(4): 803-812, 2019 10 03.
Artigo em Inglês | MEDLINE | ID: mdl-31564438

RESUMO

Concurrent hearing and genetic screening of newborns is expected to play important roles not only in early detection and diagnosis of congenital deafness, which triggers intervention, but also in predicting late-onset and progressive hearing loss and identifying individuals who are at risk of drug-induced HL. Concurrent hearing and genetic screening in the whole newborn population in Beijing was launched in January 2012. This study included 180,469 infants born in Beijing between April 2013 and March 2014, with last follow-up on February 24, 2018. Hearing screening was performed using transiently evoked otoacoustic emission (TEOAE) and automated auditory brainstem response (AABR). For genetic testing, dried blood spots were collected and nine variants in four genes, GJB2, SLC26A4, mtDNA 12S rRNA, and GJB3, were screened using a DNA microarray platform. Of the 180,469 infants, 1,915 (1.061%) were referred bilaterally or unilaterally for hearing screening; 8,136 (4.508%) were positive for genetic screening (heterozygote, homozygote, or compound heterozygote and mtDNA homoplasmy or heteroplasmy), among whom 7,896 (4.375%) passed hearing screening. Forty (0.022%) infants carried two variants in GJB2 or SLC26A4 (homozygote or compound heterozygote) and 10 of those infants passed newborn hearing screening. In total, 409 (0.227%) infants carried the mtDNA 12S rRNA variant (m.1555A>G or m.1494C>T), and 405 of them passed newborn hearing screening. In this cohort study, 25% of infants with pathogenic combinations of GJB2 or SLC26A4 variants and 99% of infants with an m.1555A>G or m.1494C>T variant passed routine newborn hearing screening, indicating that concurrent screening provides a more comprehensive approach for management of congenital deafness and prevention of ototoxicity.


Assuntos
Testes Genéticos/métodos , Perda Auditiva/diagnóstico , Pequim , Teste em Amostras de Sangue Seco , Feminino , Predisposição Genética para Doença , Humanos , Recém-Nascido , Masculino
5.
Inorg Chem ; 61(39): 15475-15483, 2022 Oct 03.
Artigo em Inglês | MEDLINE | ID: mdl-36112537

RESUMO

White-light emissive organic-inorganic hybrid metal halides (MHs) have shown promising potential applications in solid-state lighting. As one-dimensional (1D) MHs for white-light emission remain rare and the key role of halogen regulation in 1D hybrid MHs for broadband emission (BE) has not been well established yet, herein, we report a family of 1D hybrid MHs TMGPbX3 (TMG = 1,1,3,3-tetramethylguanidine, X = Cl-, Br-, or I-) to systematically explore the influence of halogen on crystal structures and photoluminescence (PL) properties in 1D organic-inorganic hybrid MHs. Under ultraviolet excitation, TMGPbBr3 and TMGPbI3 exhibit BE originating from self-trapped excitons (STEs), while TMGPbCl3 manifests the special blue-white dual emission, which is contributed by STEs in inorganic frameworks and free excitons (FEs) in the organic component. Different emission mechanisms of three 1D MHs are well demonstrated and compared. With a PL quantum yield (PLQY) up to 11.67%, a white light-emitting diode (WLED) based on TMGPbCl3 was fabricated to show its valuable application in solid-state lighting.

6.
BMC Pediatr ; 22(1): 160, 2022 03 29.
Artigo em Inglês | MEDLINE | ID: mdl-35351033

RESUMO

BACKGROUND: This study aimed to assess the quality of global guidelines or consensus statements for newborn and childhood hearing screening, as well as to compare various guidelines between other countries and China. METHODS: A PROSPERO registered systematic review (number CRD42021242198) was conducted. Multiple electronic databases and government websites including PubMed, EMBASE, Web of Science, CENTRAL, Cochrane Library, and BMJ Best Practice were searched from inception until May 2021. The latest national and international guidelines, consensus statements, technical specifications, and recommendations regarding newborn or childhood hearing screening that were published in Chinese or English medical journals or elsewhere with the full version available online. The following information was extracted independently by two reviewers for comparative analysis: titles, authors, publication year, country, the source organization, and main key recommendations using systems for assigning the level of evidence and strength of recommendations. The quality of the guidelines was assessed by three independent reviewers using the Appraisal of Guidelines for Research and Evaluation, 2nd edition. Intraclass correlation coefficients (ICCs) were calculated to assess among-reviewer agreement. RESULTS: We assessed 15 newborn and 6 childhood hearing screening guidelines, respectively. Most newborn guidelines recommend the 1-3-6 guidelines and pre-discharge screening; however, the specific screening times differ. 93.33% of newborn hearing guidelines recommend "primary screening-re-screening-diagnosis-intervention" for well-babies while 73.33% of the guidelines recommend "initial screening-diagnosis-intervention" for newborns in neonatal intensive care unit (NICU); 33.33% of the newborn hearing guidelines recommended initial screening coverage of > 95% while 46.66% did not mention it. Further, 26.66% of the newborn hearing guidelines recommended a referral rate to diagnosis within 4% while 60% did not mention it. Regarding childhood hearing screening guidelines, the screening populations differed across guidelines (age range: 0-9 years); most guidelines recommend pediatric hearing screening for all preschoolers. Only 50% of the guidelines specify screening and re-screening techniques, including pure-tone hearing screening, OAE, tympanometry, and others. The "Clarity of Presentation" domain achieved the highest mean score, and the lowest was "Editorial Independence" both in newborn and childhood guidelines. Overall score of newborn hearing screening guidelines ranged from 3 (2018 Europe) to 7 (2019 America), with an average score of 5.33. Average score of childhood hearing screening guidelines was 4.78, with the score ranging from 4 (2017 England, 2012 Europe, 2016 WHO) to 6.67 (2011 America). ICC analysis revealed excellent agreement across 21 guidelines (> 0.75). CONCLUSIONS: These findings indicated newborn hearing screening guidelines had superior quality over childhood ones. Comparative analysis suggested that recommendations of the Chinese newborn and pediatric hearing screening protocols are consistent with the mainstream international opinion. Moreover, this analysis demonstrated that "Editorial Independence" and "Stakeholder Involvement" have the greatest opportunities for improvement. These results may help to advance the quality of hearing screening guidelines in clinical practice and guide evidence-based updates.


Assuntos
Testes Auditivos , Programas de Rastreamento , Criança , Pré-Escolar , China , Audição , Testes Auditivos/métodos , Humanos , Lactente , Recém-Nascido , Encaminhamento e Consulta
7.
BMC Neurosci ; 22(1): 53, 2021 09 14.
Artigo em Inglês | MEDLINE | ID: mdl-34521342

RESUMO

BACKGROUND: The accumulation of neurotoxic amyloid-beta (Aß) in the brain is a characteristic of Alzheimer's disease (AD), at the same time, it is possible alterations of liver function could affect brain Aß levels through changes in blood Aß concentration. Over the last decade, a number of reports have shown that P-glycoprotein (encoded by ABC1B1) actively mediates the efflux transport of Aß peptides. However, the mechanism by which Aß peptides enter the cells is not clear. In the preliminary study, we found that the protein expression of organic anion transporting Polypeptide 1a4 (OATP1B1) in the liver tissue of mice with AD was significantly higher than that in the normal mice. In contrast, the protein expression of Oatp1a4 in the brain significantly decreased in mice with AD. OATP1B1, an important drug transporter might be related to the pathophysiology of AD. RESULTS: In this study, we established an OATP1B1-GFP-HEK293T cell model to confirm the OATP1B1 mediated transport of Aß1-42. Compared to the control group of GFP-HEK293Tcells, the uptake of Aß1-42 protein in the OATP1B1-GFP-HEK293T group increased significantly with the increase in concentration of Aß1-42, and also increased significantly with an increase in the duration of incubation. Similar results were observed in the flow cytometry experiment, and the uptake of Aß1-42in HEK293T-OATP1B1 cells was almost twice that in the control group. These results indicate that OATPs may act as an important "carrier" for the transport of Aß1-42 from the blood to the tissues, including liver and brain. CONCLUSIONS: This is a novel and interesting finding and OATP1B1 can be investigated as a new treatment target for AD.


Assuntos
Doença de Alzheimer/metabolismo , Doença de Alzheimer/fisiopatologia , Peptídeos beta-Amiloides/metabolismo , Transportador 1 de Ânion Orgânico Específico do Fígado/metabolismo , Fragmentos de Peptídeos/metabolismo , Doença de Alzheimer/induzido quimicamente , Peptídeos beta-Amiloides/toxicidade , Células HEK293 , Humanos , Fragmentos de Peptídeos/toxicidade
8.
Biomed Chromatogr ; 33(11): e4629, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31242331

RESUMO

Pulsatilla decoction (PD) is a classical prescription in traditional Chinese medicine that has therapeutic effects on wetness-heat-induced diarrhea (WHD). To investigate the therapeutic effects of PD in the treatment of WHD and elucidate the potential mechanism, we used a metabolomics strategy on the base of ultraperformance liquid chromatography coupled with quadrupole time-of-flight/mass spectrometry (UPLC-Q/TOF-MS/MS) and analyzed the serum samples of 32 rats to identify differential metabolites and pathways associated with the PD treatment of WHD. With variable importance for projection >1.0 in the Orthogonal partial least-squares discriminant analysis (OPLS-DA ) models and FC ≥1.2 or ≤0.8, 67 differential metabolites in the model and control groups and 33 differential metabolites in the model and PD groups were screened. A total of 23 differential metabolites were selected based on Venny analysis. Functional analysis showed that the differential metabolites identified were primarily involved in pentose and glucuronate interconversions, glycerophospholipid metabolism, tryptophan metabolism, starch and sucrose metabolism, and glycerolipid metabolism. This study suggested that PD exerts inhibitory effects on WHD. In particular, the significant roles of PD for treating WHD lie in regulating perturbed energy metabolism, glycerophospholipid metabolism and glycerolipid metabolism, and promoting lysoPC production restoring the function of intestinal tract.


Assuntos
Diarreia/metabolismo , Medicamentos de Ervas Chinesas/farmacologia , Metaboloma/efeitos dos fármacos , Pulsatilla , Animais , Cromatografia Líquida de Alta Pressão , Citocinas/sangue , Diarreia/etiologia , Feminino , Temperatura Alta/efeitos adversos , Masculino , Metabolômica , Ratos , Ratos Wistar , Reprodutibilidade dos Testes , Espectrometria de Massas em Tandem
9.
BMC Med Educ ; 17(1): 170, 2017 Sep 19.
Artigo em Inglês | MEDLINE | ID: mdl-28927383

RESUMO

BACKGROUND: Blended learning that combines a modular object-oriented dynamic learning environment (Moodle) with face-to-face teaching was applied to a medical statistics course to improve learning outcomes and evaluate the impact factors of students' knowledge, attitudes and practices (KAP) relating to e-learning. METHODS: The same real-name questionnaire was administered before and after the intervention. The summed scores of every part (knowledge, attitude and practice) were calculated using the entropy method. A mixed linear model was fitted using the SAS PROC MIXED procedure to analyse the impact factors of KAP. RESULTS: Educational reform, self-perceived character, registered permanent residence and hours spent online per day were significant impact factors of e-learning knowledge. Introversion and middle type respondents' average scores were higher than those of extroversion type respondents. Regarding e-learning attitudes, educational reform, community number, Internet age and hours spent online per day had a significant impact. Specifically, participants whose Internet age was no greater than 6 years scored 7.00 points lower than those whose Internet age was greater than 10 years. Regarding e-learning behaviour, educational reform and parents' literacy had a significant impact, as the average score increased 10.05 points (P < 0.0001). CONCLUSIONS: This educational reform that combined Moodle with a traditional class achieved good results in terms of students' e-learning KAP. Additionally, this type of blended course can be implemented in many other curriculums.


Assuntos
Instrução por Computador , Educação de Pós-Graduação em Medicina/normas , Aprendizagem Baseada em Problemas , Estatística como Assunto/educação , Estudantes de Medicina/psicologia , China , Currículo , Educação de Pós-Graduação em Medicina/tendências , Avaliação Educacional , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Masculino , Modelos Educacionais , Adulto Jovem
11.
Yao Xue Xue Bao ; 51(1): 75-9, 2016 Jan.
Artigo em Zh | MEDLINE | ID: mdl-27405165

RESUMO

The study was designed to explore the drug-drug interactions mechanisms mediated by OATP1B1 between traditional Chinese medicine Danshensu and rosuvastatin. First, the changes of rosuvastatin pharmacokinetics were investigated in presence of Danshensu in rats. Then, the primary rat hepatocytes model was established to explore the effects of Danshensu on the uptake of rosuvastatin by hepatocytes. Finally, HEK293T cells with overexpression of OATP1B1*a and OATP1B1*5 were established using a lentiviral delivery system to explore the effects of Danshensu on the uptake of rosuvastatin. Rosuvastatin pharmacokinetic parameters of C(max0, AUCO(0-t), AUC(0-∞) were increased about 123%, 194% and 195%, by Danshensu in rats, while the CL z/F value was decreased by 60%. Uptake of rosuvastatin in the primary rat hepatocytes was decreased by 3.13%, 41.15% and 74.62%, respectively in the presence of 20, 40 and 80 µmol x L(-1) Danshensu. The IC50 parameters was (53.04 ± 2.43) µmol x L(-1). The inhibitory effect of Danshensu on OATP1B1 mediated transport of rosuvastatin was related to the OATP1B1 gene type. In OATP1B1*5-HEK293T mutant cells, transport of rosuvastatin were reduced by (39.11 ± 4.94)% and (63.61 ± 3.94)%, respectively, by Danshensu at 1 and 10 µmol x L(-1). While transport of rosuvastatin was reduced by (8.22 ± 2.40)% and (11.56 ± 3.04)% and in OATP1B1*1a cells, respectively. Danshensu significantly altered the pharmacokinetics of rosuvastatin in rats, which was related to competitive inhibition of transport by OATPJBI. Danshensu exhibited a significant activity in the inhibition of rosuvastatin transport by OATP1B1*5-HEK293T, but not by OATP1B1*1a, suggesting a dependence on OATP1B1 sequence.


Assuntos
Medicamentos de Ervas Chinesas/farmacologia , Hepatócitos/efeitos dos fármacos , Lactatos/farmacologia , Transportadores de Ânions Orgânicos/metabolismo , Rosuvastatina Cálcica/farmacologia , Animais , Interações Medicamentosas , Células HEK293 , Hepatócitos/metabolismo , Humanos , Transportador 1 de Ânion Orgânico Específico do Fígado , Ratos
12.
Sci Rep ; 14(1): 16756, 2024 07 20.
Artigo em Inglês | MEDLINE | ID: mdl-39033253

RESUMO

Emodin (EMO) has the effect of anti-cholestasis induced by alpha-naphthylisothiocyanate (ANIT). But its mechanism is still unclear. The farnesoid X receptor (Fxr) is the master bile acid nuclear receptor. Recent studies have reported that Sirtuin 1 (Sirt1) can regulate the activities of Fxr. The purpose of the current study was to investigate the mechanism of EMO against ANIT-induced liver injury based on Sirt1/Fxr signaling pathway. The ANIT-induced cholestatic rats were used with or without EMO treatment. Serum biochemical indicators, as well as liver histopathological changes were examined. The genes expressions of Sirt1, Fxr, Shp, Bsep and Mrp2 were detected. The expressions of Sirt1, Fxr and their downstream related genes were investigated in vitro. The results showed that EMO significantly alleviated ANIT-induced liver injury in rats, and increased Sirt1, Fxr, Shp, Bsep and Mrp2 gene expression in liver, while decreased the expression of Cyp7a1. EMO significantly activated Fxr, while Sirt1 inhibitor and Sirt1 gene silencing significantly reduced Fxr activity in vitro. Collectively, EMO in the right dose has a protective effect on liver injury induced by ANIT, and the mechanism may be through activation of Fxr by Sirt1, thus regulating bile acid metabolism, and reducing bile acid load in hepatocytes.


Assuntos
1-Naftilisotiocianato , Colestase , Emodina , Receptores Citoplasmáticos e Nucleares , Transdução de Sinais , Sirtuína 1 , Animais , Sirtuína 1/metabolismo , Sirtuína 1/genética , Receptores Citoplasmáticos e Nucleares/metabolismo , Transdução de Sinais/efeitos dos fármacos , Emodina/farmacologia , Emodina/uso terapêutico , Colestase/metabolismo , Colestase/tratamento farmacológico , Colestase/patologia , Ratos , Masculino , 1-Naftilisotiocianato/toxicidade , Fígado/metabolismo , Fígado/efeitos dos fármacos , Fígado/patologia , Fígado/lesões , Ácidos e Sais Biliares/metabolismo , Humanos , Ratos Sprague-Dawley , Doença Hepática Induzida por Substâncias e Drogas/metabolismo , Doença Hepática Induzida por Substâncias e Drogas/tratamento farmacológico , Doença Hepática Induzida por Substâncias e Drogas/patologia , Regulação da Expressão Gênica/efeitos dos fármacos , Células Hep G2
13.
Intractable Rare Dis Res ; 13(2): 104-109, 2024 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-38836175

RESUMO

Gene therapy for monogenic auditory neuropathy (AN) has successfully improved hearing function in target gene-deficient mice. Accurate genetic diagnosis can not only clarify the etiology but also accurately locate the lesion site, providing a basis for gene therapy and guiding patient intervention and management strategies. In this study, we collected data from a family with a pair of sisters with prelingual deafness. According to their auditory tests, subject Ⅱ-1 was diagnosed with profound sensorineural hearing loss (SNHL), Ⅱ-2 was diagnosed with AN, Ⅰ-1 was diagnosed with high-frequency SNHL, and Ⅰ-2 had normal hearing. Using whole-exome sequencing (WES), one nonsense mutation, c.4030C>T (p.R1344X), and one missense mutation, c.5000C>A (p.A1667D), in the OTOF (NM_001287489.1) gene were identified in the two siblings. Their parents were heterozygous carriers of c.5000C>A (father) and c.4030C>T (mother). We hypothesized that c.5000C>A is a novel pathogenic mutation. Thus, subject Ⅱ-1 should also be diagnosed with AN caused by OTOF mutations. These findings not only expand the OTOF gene mutation spectrum for AN but also indicate that WES is an effective approach for accurately diagnosing AN.

14.
Biosci Trends ; 18(2): 165-175, 2024 Jun 06.
Artigo em Inglês | MEDLINE | ID: mdl-38583982

RESUMO

Hearing loss is the third most prevalent physical condition affecting communication, well-being, and healthcare costs. Sensorineural hearing loss often occurs first in the high-frequency region (basal turn), then towards the low-frequency region (apical turn). However, the mechanism is still unclear. Supporting cells play a critical role in the maintenance of normal cochlear function. The function and supporting capacity of these cells may be different from different frequency regions. Hensen's cells are one of the unique supporting cell types characterized by lipid droplets (LDs) in the cytoplasm. Here, we investigated the morphological and gene expression differences of Hensen's cells along the cochlear axis. We observed a gradient change in the morphological characteristics of Hensen's cells along the cochlear tonotopic axis, with larger and more abundant LDs observed in apical Hensen's cells. Smart-seq2 RNA-seq revealed differentially expressed genes (DEGs) between apical and basal Hensen's cells that clustered in several pathways, including unsaturated fatty acid biosynthesis, cholesterol metabolism, and fatty acid catabolism, which are associated with different energy storage capacities and metabolic potential. These findings suggest potential differences in lipid metabolism and oxidative energy supply between apical and basal Hensen's cells, which is consistent with the morphological differences of Hensen's cells. We also found differential expression patterns of candidate genes associated with hereditary hearing loss (HHL), noise-induced hearing loss (NIHL), and age-related hearing loss (ARHL). These findings indicate functional heterogeneity of SCs along the cochlear axis, contribute to our understanding of cochlear physiology and provide molecular basis evidence for future studies of hearing loss.


Assuntos
Análise de Sequência de RNA , Animais , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/patologia , Metabolismo dos Lipídeos/genética , Cóclea/patologia , Cóclea/metabolismo , Gotículas Lipídicas/metabolismo , Humanos
15.
Artigo em Zh | MEDLINE | ID: mdl-38563166

RESUMO

Objective:To analyze the mutation spectrum of 23-site chip newborn deafness genetic screening in Beijing, and to provide basis for genetic counseling and clinical diagnosis and treatment. Methods:The study included 21 006 babies born in Beijing from December 2022 to June 2023. All subjects underwent newborn deafness genetic screening in Beijing Tongren Hospital, covering 23 variants in 4 genes, the GJB2 gene(c.35delG, c.176_191del16, c.235delC, c.299_300delAT, c.109G>A, c.257C>G, c.512insAACG, c.427C>T, c.35insG), SLC26A4 gene(c.919-2A>G, c.2168A>G, c.1174A>T, c.1226G>A, c.1229C>T, c.1975G>C, c.2027T>A, c.589G>A, c.1707+5G>A, c.917insG, c.281C>T), Mt12SrRNA(m.1555A>G, m.1494C>T) and GJB3 gene(c.538C>T). The mutation detection rate and allele frequency were analyzed. Results:The overall mutation detection rate was 11.516%(2 419/21 006), with the GJB2 gene being the most frequently involved at 9.097%(1 911/21 006), followed by the SLC26A4 gene at 2.123%(446/21 006), the GJB3 gene at 0.362%(76/21 006) and Mt12SrRNA at 0.176%(37/21 006). Among the GJB2 genes, c.109G>A and c.235delC mutation detection rates were the highest, with 6.579%(1 382/21 006) and 1.795%(377/21 006), respectively. Of the SLC26A4 genes, c.919-2A>G and c.2168A>G had the highest mutation rates of 1.423%(299/21 006) and 0.233%(49/21 106), respectively. Regarding the allele frequency, GJB2 c.109G>A was the most common variant with an allele frequency of 3.359%(1 411/42 012), followed by the GJB2 c.235delC at 0.897%(377/42 012) and the SLC26A4 c.919-2A>G at 0.719%(302/42 012). Conclusion:23-site chip newborn deafness genetic screening in Beijing showed that GJB2 c.109G>A mutation detection rate and allele frequency were the highest. This study has enriched the epidemiological data of 23-site chip genetic screening mutation profiles for neonatal deafness, which can provide evidence for clinical practice.


Assuntos
Surdez , Perda Auditiva , Lactente , Recém-Nascido , Humanos , Conexinas/genética , Conexina 26/genética , Surdez/genética , Surdez/diagnóstico , Análise Mutacional de DNA , Transportadores de Sulfato/genética , Testes Genéticos , Mutação , Perda Auditiva/genética , Triagem Neonatal , China
16.
Biosci Trends ; 2024 Aug 25.
Artigo em Inglês | MEDLINE | ID: mdl-39183030

RESUMO

Genetic screening of newborns for deafness plays an important role in elucidating the etiology of deafness, diagnosing it early, and intervening in it. Genetic screening of newborns has been conducted for 11 years in Beijing. It started with a chip to screen for 9 variants of 4 genes in 2012; the chip screened for 15 variants of those genes in 2018, and it now screens for 23 variants of those genes. In the current study, a comparative analysis of three screening protocols and follow-up for infants with pathogenic variants was performed. The rates of detection and hearing test results of infants with pathogenic variants were analyzed. Subjects were 493,821 infants born at 122 maternal and child care centers in Beijing from April 2012 to August 2023. Positivity increased from 4.599% for the chip to screen for 9 variants to 4.971% for the chip to screen for 15 variants, and further to 11.489% for the chip to screen for 23 variants. The carrier frequency of the GJB2 gene increased from 2.489% for the chip to screen for 9 variants and 2.422% for the chip to screen for 15 variants to 9.055% for the chip to screen for 23 variants. The carrier frequency of the SLC26A4 gene increased from 1.621% for the chip to screen for 9 variants to 2.015% for the chip to screen for 15 variants and then to 2.151% for the chip to screen for 23 variants. According to the chip to screen for 9 variants and the chip to screen for 15 variants, the most frequent mutant allele was c.235delC. According to the chip to screen for 23 variants, the most frequent mutant allele was c.109G>A. The chip to screen for 15 variants was used to screen 66.67% (14/21) of newborns with biallelic variants in the SLC26A4 gene for newly added mutations. The chip to screen for 23 variants was used to screen 92.98% (53/57) of newborns with biallelic variants in the GJB2 gene (52 cases were biallelic c.109G>A) and 25% (1/4) of newborns with biallelic variants in the SLC26A4 gene for newly added mutations. Among the infants with pathogenic variants (biallelic variants in GJB2 or SLC26A4), 20.66% (25/121) currently have normal hearing. In addition, 34.62% (9/26) of newborns who passed the hearing screening were diagnosed with hearing loss. Findings indicate that a growing number of newborns have benefited, and especially in the early identification of potential late-onset hearing loss, as the number of screening sites has increased. Conducting long-term audiological monitoring for biallelic variants in individuals with normal hearing is of paramount significance.

17.
J Colloid Interface Sci ; 665: 443-451, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38537590

RESUMO

Despite great efforts that have been made, photocatalytic carbon dioxide (CO2) reduction still faces enormous challenges due to the sluggish kinetics or disadvantageous thermodynamics. Herein, cadmium sulfide quantum dots (CdS QDs) were loaded onto carbon, oxygen-doped boron nitride (BN) and encapsulated by titanium carbide (Ti3C2, MXene) layers to construct a ternary composite. The uniform distribution of CdS QDs and the tight interfacial interaction among the three components could be achieved by adjusting the loading amounts of CdS QDs and MXene. The ternary 100MX/CQ/BN sample gave a productive rate of 2.45 and 0.44 µmol g-1 h-1 for carbon monoxide (CO) and methane (CH4), respectively. This CO yield is 1.93 and 6.13 times higher than that of CdS QDs/BN and BN counterparts. The photocatalytic durability of the ternary composite is significantly improved compared with CdS QDs/BN because MXene can protect CdS from photocorrosion. The characterization results demonstrate that the excellent CO2 adsorption and activation capabilities of BN, the visible light absorption of CdS QDs, the good conductivity of MXene and the well-matched energy band alignment jointly promote the photocatalytic performance of the ternary catalyst.

18.
BMC Pediatr ; 13: 116, 2013 Aug 08.
Artigo em Inglês | MEDLINE | ID: mdl-23926962

RESUMO

BACKGROUND: Although migrant workers account for the majority of newborns in Beijing, their children are less likely to undergo appropriate universal newborn hearing screening/rescreening (UNHS) than newborns of local non-migrant residents. We hypothesised that this was at least in part due to the inadequacy of the UNHS protocol currently employed for newborn babies, and therefore aimed to modify the protocol to specifically reflect the needs of the migrant population. METHODS: A total of 10,983 healthy babies born to migrant mothers between January 2007 and December 2009 at a Beijing public hospital were investigated for hearing abnormalities according to a modified UNHS protocol. This incorporated two additional/optional otoacoustic emissions (OAE) tests at 24-48 hours and 2 months after birth. Infants not passing a screening test were referred to the next test, until any hearing loss was confirmed by the auditory brainstem response (ABR) test. RESULTS: A total of 98.91% (10983/11104) of all newborn children underwent the initial OAE test, of which 27.22% (2990/10983) failed the test. 1712 of the failed babies underwent the second inpatient OAE test, with739 failing again; thus significantly decreasing the overall positive rate for abnormal hearing from 27.22% to 18.36% ([2990-973 /10983)]; p = 0). Overall, 1147(56.87%) babies underwent the outpatient OAE test again after1-month, of whom 228 failed and were referred for the second outpatient OAE test (i.e. 2.08% (228/10983) referral rate at 1month of age). 141 of these infants underwent the referral test, of whom 103 (73.05%) tested positive again and were referred for a final ABR test for hearing loss (i.e. final referral rate of 1.73% ([228-38/10983] at 2 months of age). Only 54 infants attended the ABR test and 35 (0.32% of the original cohort tested) were diagnosed with abnormal hearing. CONCLUSIONS: Our study shows that it is feasible and practical to achieve high coverage rates for screening hearing loss and decrease the referral rates in newborn babies of migrant workers, using a modification of the currently employed UNHS protocol.


Assuntos
Perda Auditiva/diagnóstico , Triagem Neonatal/métodos , Migrantes , Audiometria de Resposta Evocada , China , Protocolos Clínicos , Estudos de Viabilidade , Feminino , Seguimentos , Testes Auditivos/métodos , Testes Auditivos/estatística & dados numéricos , Humanos , Lactente , Recém-Nascido , Masculino , Triagem Neonatal/estatística & dados numéricos , Emissões Otoacústicas Espontâneas , Avaliação de Processos e Resultados em Cuidados de Saúde , Encaminhamento e Consulta/estatística & dados numéricos
19.
Artigo em Zh | MEDLINE | ID: mdl-36843517

RESUMO

Objective:To investigate the clinical audiological characteristics of children referred from maternal and child institutions and analyze the high risk factors of hearing loss, so as to provide scientific basis for further improvement of children's ear and hearing care. Methods:The subjects of this study were 868 children who were referred by maternal and child institutions in Beijing to the otology outpatient of Beijing Tongren Hospital, Capital Medical University for hearing diagnosis. All subjects underwent acoustic immittance, auditory brainstem response, distortion products otoacoustic emission and other audiological tests. Children were divided into groups according to the age of diagnosis: 0-<3 months group(242 cases), 3-<6 months group(328 cases), 6-<12 months group(180 cases), ≥12 months group(118 cases), the results of hearing diagnosis, hearing loss degree and types, the relationship between high risk factors and hearing loss in each group were compared and analyzed. Results:The age of diagnosis of 868 children was(7.13±8.29) months. 488 cases with hearing loss accounted for 56.22% and 380 cases with normal hearing accounted for 43.78%. Proportion of different degree of hearing loss of 792 ears from high to low was as follows: mild, 366 ears(46.21%); moderate, 214 ears(27.02%); severe, 151 ears(19.07%); profound, 61 ears(7.70%). There were statistically significant differences in the proportion of different hearing loss degree among 0-<3 months group, 3-<6 months group, 6-<12 months group and ≥12 months group(P<0.001). Pairwise comparison between groups showed that the proportion of mild hearing loss of 0-<3 months group was higher than that in the other three groups(P<0.05), there was no significant difference of moderate hearing loss among all groups(P>0.05), the proportion of severe hearing loss of ≥12 months group was higher than that of 0-<3 months group(P<0.05). The proportion of profound hearing loss with 0-<3 months group was lower than the other three groups(P<0.05). In 792 ears with hearing loss, sensorineural hearing loss accounted for 67.42%, conductive hearing loss accounted for 20.71% and mixed hearing loss accounted for 11.87%. Among 98 cases with high risk factors for hearing loss, 58 cases(59.18%) were diagnosed with hearing loss. The incidence of hearing loss with high risk factors ranked from high to low was: craniofacial malformation(93.75%), family history/congenital genetic syndrome(61.11%), neonatal intensive care unit(NICU) hospitalization(46.43%) and others(20.00%). Conclusion:Referrals from maternal and child institutions play an important role in the early detection of children with mild to moderate sensorineural hearing loss. Children with craniofacial malformation, family history/congenital genetic syndrome, hospitalization history of NICU and other high risk factors have a high incidence of hearing loss and should be attached with great importance.


Assuntos
Surdez , Perda Auditiva Neurossensorial , Perda Auditiva , Recém-Nascido , Criança , Humanos , Lactente , Perda Auditiva Neurossensorial/diagnóstico , Audição , Perda Auditiva/epidemiologia , Testes Auditivos/métodos , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia
20.
ACS Appl Mater Interfaces ; 15(27): 32506-32514, 2023 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-37382556

RESUMO

Low-dimensional organic-inorganic metal halides (LOMHs) recently have attracted much attention due to their tunable crystal structures and excellent photoelectric properties. The configuration and arrangement of organic cations in LOMHs have significant effect on the structure of inorganic frameworks and luminescence properties. In this work, we systematically explored the "spatial effect" and "hydrogen bonding effect" of organic cations on the structure and properties of LOMHs, by synthesizing three LOMHs including (N-AD)PbCl4, (N-AD)2Pb2Br7, and (N-AD)4Pb3I12 (N-AD: N-acetylethylenediamine, C4H10N2O). Specifically, (110)-oriented two-dimensional (N-AD)PbCl4 and (N-AD)2Pb2Br7 with manifest blue-white emissions, originating from the free excitons (FEs) and self-trapped excitons (STEs), respectively. The UV-pumped light-emitting diode (LED)-based on (N-AD)2Pb2Br7 was prepared, and the highest color rendering index (CRI) and correlated color temperature (CCT) were up to 80 and 4484 K, respectively. This proves its potential application in solid-state lighting.

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