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1.
Mol Genet Genomic Med ; : e1212, 2020 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-32160656

RESUMO

BACKGROUND: A very limited spectrum of ASCC1 pathogenic variants had been reported in six (mostly consanguineous) families with spinal muscular atrophy with congenital bone fractures 2 [OMIM #616867] since 2016. METHODS: A proband from a non-consanguineous Chinese family presented with neonatal severe hypotonia, respiratory distress, muscle weakness, and atrophy, as well as congenital bone fractures was performed by exome sequencing. RESULTS: A compound heterozygosity of a nonsense (c.932C>G,p.Ser311Ter) and an exon 5 deletion in ASCC1 segregating with phenotypes was detected, both variants are novel and pathogenic. Since ASCC1 is a relatively new disease gene, we performed the gene curation by ClinGen SOP. The existing evidence is sufficient to support a "Definitive" level of disease-gene relationship. CONCLUSION: This case report expended the mutation spectrum of ASCC1 and support the notion that this novel disease also occurs in outbreed populations and this is a rare disease but may still be underdiagnosed due to its perinatal lethal outcomes.

2.
Int J Mol Sci ; 21(1)2019 Dec 19.
Artigo em Inglês | MEDLINE | ID: mdl-31861685

RESUMO

Soybean is one of the most important food and oil crops in the world. Plant height (PH) and the number of nodes on the main stem (NNMS) are quantitative traits closely related to soybean yield. In this study, we used 208 chromosome segment substitution lines (CSSL) populations constructed using "SN14" and "ZYD00006" for quantitative trait locus (QTL) mapping of PH and NNMS. Combined with bulked segregant analysis (BSA) by extreme materials, 8 consistent QTLs were identified. According to the gene annotation of the QTL interval, a total of 335 genes were obtained. Five of which were associated with PH and NNMS, potentially representing candidate genes. RT-qPCR of these 5 candidate genes revealed two genes with differential relative expression levels in the stems of different materials. Haplotype analysis showed that different single nucleotide polymorphisms (SNPs) between the excellent haplotypes in Glyma.04G251900 and Glyma.16G156700 may be the cause of changes in these traits. These results provide the basis for research on candidate genes and marker-assisted selection (MAS) in soybean breeding.

3.
Clin Chim Acta ; 489: 103-108, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30508507

RESUMO

BACKGROUND: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder. Although most patients present with isolated CH, some patients present with CH and extra-thyroidal congenital malformations (ECMs), for which less is known about the underlying genetics. The aim of this study was to investigate the genetic mechanisms in patients with CH and ECMs using chromosomal microarray (CMA) and whole exome sequencing (WES). METHODS: Peripheral venous blood samples were collected from 16 patients with CH and ECMs. Genomic DNA was extracted from peripheral blood leukocytes. CMA and WES were performed to detect copy number and single nucleotide variants. RESULTS: CMA identified clinically significant copy number variants in 7 patients consistent with their phenotypes. For 6 of them, the genotype and phenotype suggested a syndromic diagnosis, and the remaining patient carried a pathogenic microdeletion and microduplication including GLIS3. WES analysis identified 9 different variants in 7 additional patients. The variants included 2 known mutations (c.1096C>T (p.Arg366Trp) in KCNQ1 and c.848C>A (p.Pro283Gln) in NKX2-5) and 7 novel variants: one nonsense mutation (c.4330C>T (p.Arg1444*) in ASXL3), one frameshift mutation (c.1253_1259delACTCTGG (p.Asp418fs) in TG), three missense variants (c.1472C>T (p.Thr491Ile) in TG, c.4604A>G (p.Asp1535Gly) in TG, and c.2139G>T (p.Glu713Asp) in DUOX2, and two splice site variants (c.944-1G>C and c.3693 + 1G>T) in DUOX2. CONCLUSIONS: We report the first genetic study of CH patients with ECMs using CMA and WES. Overall, our detection rate for pathogenic and possibly pathogenic variants was 87.5% (14/16). We report 7 novel variants, expanding the mutational spectrum of TG, DUOX2, and ASXL3.


Assuntos
Cromossomos Humanos/genética , Hipotireoidismo Congênito/genética , Análise de Sequência com Séries de Oligonucleotídeos , Sequenciamento Completo do Exoma , Criança , Hipotireoidismo Congênito/complicações , Hipotireoidismo Congênito/etiologia , Humanos , Lactente , Mutação
4.
Nanoscale ; 10(20): 9466-9475, 2018 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-29767210

RESUMO

Colloidal type-II heterostructures are believed to be a promising solution-processed gain medium given their spatially separated electrons and holes for the suppression of Auger recombination and their wider emission tuning range from the visible to near-infrared region. Amplified spontaneous emission (ASE) was achieved from colloidal type-II core/shell nanocrystals several years ago. However, due to the limited charge-transfer (CT) interfacial states and minimal overlap of electron and hole wave functions, the ASE threshold has still been very high. Herein, we achieved ASE through type-II recombination at a lower threshold using CdSe/CdSeTe core/alloyed-crown nanoplatelets. Random lasing was also demonstrated in the film of these nanoplatelets under sub-ns laser-pumping. Through a detailed carrier dynamics investigation using femtosecond transient absorption, steady state, and time-resolved photoluminescence (PL) spectroscopies, we confirmed the type-II band alignment, and found that compared with normal CdSe/CdTe core/crown nanoplatelets (where no ASE/lasing was observed), CdSe/CdSeTe core/alloyed-crown nanoplatelets had a much higher PL quantum yield (75% vs. 31%), a ∼5-fold larger density of type-II charge-transfer states, a faster carrier transfer to interfaces (0.32 ps vs. 0.61 ps) and a slower Auger recombination lifetime (360 ps vs. 160 ps). Compared with CdSe/CdTe nanoplatelets, their counterparts with an alloyed crown boast a promoted charge transfer process, higher luminescence quantum yield, and smaller Auger rate, which results in their excellent application potential in solution-processed lasers and light-emitting devices.

5.
Materials (Basel) ; 10(4)2017 Apr 12.
Artigo em Inglês | MEDLINE | ID: mdl-28772764

RESUMO

The penetration of a 30CrMnMo ultra-high molecular weight polyethylene armor by a high-speed fragment was investigated via experiments and simulations. Analysis of the projectile revealed that the nose (of the projectile) is in the non-equilibrium state at the initial stage of penetration, and the low-speed regions undergo plastic deformation. Subsequently, the nose-tail velocities of the projectile were virtually identical and fluctuated together. In addition, the effective combination of the steel plate and polyethylene (PE) laminate resulted in energy absorption by the PE just before the projectile nose impacts the laminate. This early absorption plays a positive role in the ballistic performance of the composite armor. Further analysis of the internal energy and mass loss revealed that the PE laminate absorbs energy via the continuous and stable failure of PE fibers during the initial stages of penetration, and absorbs energy via deformation until complete penetration occurs. The energy absorbed by the laminate accounts for 68% of the total energy absorption, indicating that the laminate plays a major role in energy absorption during the penetration process.

6.
Clin Chim Acta ; 462: 127-132, 2016 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-27637299

RESUMO

BACKGROUND: Defects in the human TSHR gene are reported to be one of the causes of CH due to thyroid dysgenesis, the purpose of this study was to examine the TSHR mutation spectrum and prevalence in congenital hypothyroidism (CH) and subclinical congenital hypothyroidism (SCH) patients in the Guangxi Zhuang Autonomous Region of China and to evaluate the genotype-phenotype correlations. METHODS: Blood samples were collected from 384 patients including 240 CH and 144 SCH patients in Guangxi, China. Genomic DNA was extracted from peripheral blood leukocytes. All exons of the 11 known CH associated genes including TSHR together with their exon-intron boundaries were screened by next-generation sequencing (NGS). RESULTS: NGS analysis of TSHR revealed nine different variants in ten individuals. Six (4.2%) of 144 patients with SCH were found to harbor monoallelic TSHR variants. Four (1.6%) of 240 patients with CH harbored TSHR variants combined with another monoallelic mutation in either DUOX2 or TG gene. The present study identified five novel variants c.1838A>G (p.Y613C), c.1576G>A (p.A526T), c.2087T>G (p.F696C), c.1631G>A (p.G544E) and c.2051C>A (p.A684D) in TSHR, seven known pathogenic variants c.1349G>A (p.R450H), c.326G>A (p.R109Q), c.2066T>G (p.V689G) and c.2272G>A (p.E758K) in TSHR, IVS3+2T>G in TG, and c.1588A>T (p.K530X) and c.2635G>A (p.E879K) in DUOX2. The previously reported hotspot mutation p.R450H was found in only one SCH patient. CONCLUSION: The prevalence of TSHR mutations was 1.6% in CH patients and 4.2% in SCH patients in Guangxi Zhuang Autonomous Region of China. Monoallelic TSHR pathogenic variants were associated with SCH, while TSHR pathogenic variants combined with monoallelic mutations in DUOX2 or TG gene might contribute to CH. Our study expands the TSHR mutation spectrum and provides the best estimation of mutation rate for SCH and CH patients in this Chinese population.


Assuntos
Hipotireoidismo Congênito/genética , Receptores da Tireotropina/genética , Análise de Sequência de DNA , China , Biologia Computacional , Hipotireoidismo Congênito/sangue , Hipotireoidismo Congênito/diagnóstico , DNA/sangue , DNA/genética , Feminino , Humanos , Recém-Nascido , Masculino , Mutação , Receptores da Tireotropina/sangue , Software
7.
Arch. endocrinol. metab. (Online) ; 60(4): 323-327, Aug. 2016. tab, graf
Artigo em Inglês | LILACS-Express | ID: lil-792946

RESUMO

ABSTRACT Objective Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin. Hypothyroidism in PS can be present from birth and therefore diagnosed by neonatal screening. The aim of this study was to examine the SLC26A4 mutation spectrum and prevalence among congenital hypothyroidism (CH) patients in the Guangxi Zhuang Autonomous Region of China and to establish how frequently PS causes hearing impairment in our patients with CH. Subjects and methods Blood samples were collected from 192 CH patients in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes. All exons of the SLC26A4 gene together with their exon-intron boundaries were screened by next-generation sequencing. Patients with SLC26A4 mutations underwent a complete audiological evaluation including otoscopic examination, audiometry and morphological evaluation of the inner ear. Results Next generation sequencing analysis of SLC26A4 in 192 CH patients revealed five different heterozygous variations in eight individuals (8/192, 4%). The prevalence of SLC26A4 mutations was 4% among studied Chinese CH. Three of the eight were diagnosed as enlargement of the vestibular aqueduct (EVA), no PS were found in our 192 CH patients. The mutations included one novel missense variant p.P469S, as well as four known missense variants, namely p.V233L, p.M147I, p.V609G and p.D661E. Of the eight patients identified with SLC26A4 variations in our study, seven patients showed normal size/location of thyroid gland, and one patients showed a decreased size one. Conclusions The prevalence of SLC26A4 pathogenic variants was 4% among studied Chinese patients with CH. Our study expanded the SLC26A4 mutation spectrum, provided the best estimation of SLC26A4 mutation rate for Chinese CH patients and indicated the rarity of PS as a cause of CH.

8.
BMJ Open ; 6(5): e010719, 2016 05 12.
Artigo em Inglês | MEDLINE | ID: mdl-27173810

RESUMO

OBJECTIVES: Defects in the human thyroid peroxidase (TPO) gene are reported to be one of the causes of congenital hypothyroidism (CH) due to dyshormonogenesis. The aim of this study was to examine the TPO mutation spectrum and prevalence among patients with CH in the Guangxi Zhuang Autonomous Region of China and to define the relationships between TPO genotypes and clinical phenotypes. METHODS: Blood samples were collected from 192 patients with CH in the Guangxi Zhuang Autonomous Region, China and genomic DNA was extracted from peripheral blood leucocytes. All exons of the 10 common CH-associated genes including TPO together with their exon-intron boundaries were screened by next-generation sequencing (NGS). The effect of the novel TPO mutation was investigated by 'in silico' studies. RESULTS: NGS analysis of TPO in 192 patients with CH revealed 3 different variations in 2 individuals (2/192, 1%). Sequencing other CH candidate genes in the patients with TPO variants revealed that patient 1 was homozygous for c.2422delT TPO mutation combined with double heterozygous DUOX2 pathogenic variants (p.R683L/p.L1343F) and patient 2 was triallelic for TPO pathogenic variants (p.R648Q/p.T561M/p.T561M). The present study identified a novel TPO variation c.1682C>T/p.T561M; and four known mutations: c.2422delT/p.C808Afs×24 and c.1943C>T/p.R648Q in TPO, c.2048G>T/p.R683L and c.4027C>T/p.L1343F in DUOX2. CONCLUSIONS: Our study indicated that the prevalence of TPO mutations was 1% among studied Chinese patients with CH. More than two variations in one or more CH-associated genes can be found in a single patient, and may, in combination, affect the phenotype of the individual. A novel TPO variation c.1682C>T/p.T561M was found, thereby expanding the mutational spectrum of the gene.


Assuntos
Autoantígenos/genética , Hipotireoidismo Congênito/genética , Iodeto Peroxidase/genética , Proteínas de Ligação ao Ferro/genética , Pré-Escolar , China , Simulação por Computador , Análise Mutacional de DNA , Oxidases Duais/genética , Éxons , Feminino , Genótipo , Humanos , Recém-Nascido , Masculino , Fenótipo
9.
Clin Chim Acta ; 458: 30-4, 2016 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-27108200

RESUMO

BACKGROUND: Defects in the human dual oxidase 2 (DUOX2) gene are reported to be one of the major causes of congenital hypothyroidism (CH). This study was set to examine the DUOX2 mutation spectrum and prevalence among Chinese CH and subclinical congenital hypothyroidism (SCH) patients and to define the relationships between DUOX2 genotypes and clinical phenotypes. METHODS: Peripheral venous blood samples were collected from 192 CH/SCH patients in Guangxi Zhuang Autonomous Region of China. All exons and their exon-intron boundary sequences of the 11 known CH associated genes including DUOX2 were screened by next-generation sequencing (NGS). RESULTS: NGS analysis of DUOX2 revealed 18 rare non-polymorphic variants in 57 CH/SCH patients. Sequencing of other CH candidate genes in the 57 patients revealed 2 thyroglobulin (TG) variants. All variants included 11 known mutations, 8 novel variants in DUOX2 and one novel variant in TG, among which three variants p.K530X, p.L1343F and p.R683L are highly recurrent in our patient cohort. 35 (83%) of the 42 patients with one or two DUOX2 pathogenic variants turned out to be SCH or transient congenital hypothyroidism (TCH), whereas 13 (87%) of the 15 patients with three or more DUOX2 pathogenic variants are associated with permanent congenital hypothyroidism (PCH). The accumulation of defects in DUOX2 contribute to the more severe disease regarding thyroid stimulating hormone (TSH) levels, free thyroxine (FT4) levels and initial dose of l-thyroxine (L-T4). CONCLUSION: Our study expanded the mutational spectrum of the DUOX2 and TG genes and provided the best estimation of the DUOX2 mutation rate (29%) for CH/SCH patients in Guangxi Zhuang Autonomous Region of China. Most one or two DUOX2 pathogenic variants turned out to be SCH or TCH, whereas patients with three or more DUOX2 pathogenic variants were mostly associated with PCH. The coexistence of multiple pathogenic variants may have contributed to the severity of the hypothyroid condition.


Assuntos
Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/genética , NADPH Oxidases/genética , Análise de Sequência de DNA , China , Biologia Computacional , Hipotireoidismo Congênito/sangue , Oxidases Duais , Genótipo , Humanos , Mutação , NADPH Oxidases/sangue , Fenótipo , Espectrometria de Fluorescência
10.
Arch Endocrinol Metab ; 60(4): 323-7, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26886089

RESUMO

OBJECTIVE: Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin. Hypothyroidism in PS can be present from birth and therefore diagnosed by neonatal screening. The aim of this study was to examine the SLC26A4 mutation spectrum and prevalence among congenital hypothyroidism (CH) patients in the Guangxi Zhuang Autonomous Region of China and to establish how frequently PS causes hearing impairment in our patients with CH. SUBJECTS AND METHODS: Blood samples were collected from 192 CH patients in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes. All exons of the SLC26A4 gene together with their exon-intron boundaries were screened by next-generation sequencing. Patients with SLC26A4 mutations underwent a complete audiological evaluation including otoscopic examination, audiometry and morphological evaluation of the inner ear. RESULTS: Next generation sequencing analysis of SLC26A4 in 192 CH patients revealed five different heterozygous variations in eight individuals (8/192, 4%). The prevalence of SLC26A4 mutations was 4% among studied Chinese CH. Three of the eight were diagnosed as enlargement of the vestibular aqueduct (EVA), no PS were found in our 192 CH patients. The mutations included one novel missense variant p.P469S, as well as four known missense variants, namely p.V233L, p.M147I, p.V609G and p.D661E. Of the eight patients identified with SLC26A4 variations in our study, seven patients showed normal size/location of thyroid gland, and one patients showed a decreased size one. CONCLUSIONS: The prevalence of SLC26A4 pathogenic variants was 4% among studied Chinese patients with CH. Our study expanded the SLC26A4 mutation spectrum, provided the best estimation of SLC26A4 mutation rate for Chinese CH patients and indicated the rarity of PS as a cause of CH.


Assuntos
Testes Genéticos/métodos , Bócio Nodular/genética , Perda Auditiva Neurossensorial/genética , Proteínas de Membrana Transportadoras/genética , Mutação , China/epidemiologia , Estudos de Coortes , Feminino , Bócio Nodular/epidemiologia , Perda Auditiva Neurossensorial/epidemiologia , Humanos , Recém-Nascido , Masculino , Triagem Neonatal/métodos , Prevalência , Transportadores de Sulfato , Tireotropina/sangue , Tiroxina/sangue , Aqueduto Vestibular/anormalidades
11.
Mol Cell Endocrinol ; 423: 60-6, 2016 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-26777470

RESUMO

Mutations in Thyroglobulin (TG) are common genetic causes of congenital hypothyroidism (CH). But the TG mutation spectrum and its frequency in Chinese CH patients have not been investigated. Here we conducted a genetic screening of TG gene in a cohort of 382 Chinese CH patients. We identified 22 rare non-polymorphic variants including six truncating variants and 16 missense variants of unknown significance (VUS). Seven patients carried homozygous pathogenic variants, and three patients carried homozygous or compound heterozygous VUS. 48 out of 382 patients carried one of 18 heterozygous VUS which is significantly more often than their occurrences in control cohort (P < 0.0001). Unique to Asian population, the c.274+2T>G variant is the most common pathogenic variant with an allele frequency of 0.021. The prevalence of CH due to TG gene defect in Chinese population was estimated to be approximately 1/101,000. Our study uncovered ethnicity specific TG mutation spectrum and frequency.


Assuntos
Hipotireoidismo Congênito/genética , Tireoglobulina/genética , Sequência de Bases , China , Análise Mutacional de DNA , Feminino , Frequência do Gene , Estudos de Associação Genética , Humanos , Lactente , Recém-Nascido , Masculino , Mutação de Sentido Incorreto , Mutação Puntual , Deleção de Sequência
12.
CNS Neurosci Ther ; 22(1): 63-73, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26584824

RESUMO

AIMS: This study investigated the neuroprotective properties of icariin (an effective component of traditional Chinese herbal medicine Epimedium) on neuronal function and brain energy metabolism maintenance in a triple-transgenic mouse model of Alzheimer's disease (3 × Tg-AD). METHODS: 3 × Tg-AD mice as well as primary neurons were subjected to icariin treatment. Morris water maze assay, magnetic resonance spectroscopy (MRS), Western blotting, ELISA, and immunohistochemistry analysis were used to evaluate the effects of icariin administration. RESULTS: Icariin significantly improved spatial learning and memory retention in 3 × Tg-AD mice, promoted neuronal cell activity as identified by the enhancement of brain metabolite N-acetylaspartate level and ATP production in AD mice, preserved the expressions of mitochondrial key enzymes COX IV, PDHE1α, and synaptic protein PSD95, reduced Aß plaque deposition in the cortex and hippocampus of AD mice, and inhibited ß-site APP cleavage enzyme 1 (BACE1) expression. Icariin treatment also decreased the levels of extracellular and intracellular Aß1-42 in 3 × Tg-AD primary neurons, modulated the distribution of Aß along the neurites, and protected against mitochondrial fragmentation in 3 × Tg-AD neurons. CONCLUSIONS: Icariin shows neuroprotective effects in 3 × Tg-AD mice and may be a promising multitarget drug in the prevention/protection against AD.


Assuntos
Doença de Alzheimer/tratamento farmacológico , Encéfalo/efeitos dos fármacos , Cognição/efeitos dos fármacos , Flavonoides/farmacologia , Mitocôndrias/efeitos dos fármacos , Fármacos Neuroprotetores/farmacologia , Doença de Alzheimer/metabolismo , Doença de Alzheimer/patologia , Doença de Alzheimer/psicologia , Precursor de Proteína beta-Amiloide/genética , Precursor de Proteína beta-Amiloide/metabolismo , Animais , Encéfalo/metabolismo , Encéfalo/patologia , Células Cultivadas , Cognição/fisiologia , Modelos Animais de Doenças , Avaliação Pré-Clínica de Medicamentos , Feminino , Humanos , Aprendizagem em Labirinto/efeitos dos fármacos , Aprendizagem em Labirinto/fisiologia , Camundongos Transgênicos , Mitocôndrias/metabolismo , Mitocôndrias/patologia , Neurônios/efeitos dos fármacos , Neurônios/metabolismo , Neurônios/patologia , Presenilina-1/genética , Presenilina-1/metabolismo , Memória Espacial/efeitos dos fármacos , Memória Espacial/fisiologia , Proteínas tau/genética , Proteínas tau/metabolismo
13.
Hemoglobin ; 40(6): 405-410, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28361591

RESUMO

Increased Hb F levels can ameliorate the symptoms of ß-thalassemia (ß-thal). Due to the genetic heterogenicity of ß-thal, the relationship between genetic variants in modifier genes and Hb F level has been studied in different populations. The Chinese Zhuang has the second largest population in China and has 6.78% prevalence of ß-thal. However, the effects of these single nucleotide polymorphism (SNP) variants on the Hb F levels of ß-thal intermedia (ß-TI) patients in this population have not been reported. To explore the association between modifier loci (ß-globin gene cluster, HBS1L-MYB intergenic region and BCL11A) and Hb F levels in Chinese Zhuang ß-TI patients, 96 unrelated ß-TI patients (50 males and 46 females) with different Hb F levels were recruited and genotyped by mass spectrometry. A total of 13 SNPs were confirmed to be in a significant relationship with Hb F levels in this population. Of these, high-risk genotypes of six Hb F-associated SNPs, rs9376090, rs7776054, rs9399137, rs9389268, rs9402685 in the HBS1L-MYB intergenic region and rs189984760 in the BCL11A locus, showed association with high Hb F levels, especially for SNPs in linkage disequilibrium. One novel Hb F-associated SNP, rs189984760, was identified in our study. Our findings will be of valuable reference for correlation between modifier genes and Hb F in Chinese Zhuang populations and may lead to better understand the modifying mechanisms for ß-thal.


Assuntos
Proteínas de Transporte/genética , Hemoglobina Fetal/análise , Proteínas de Ligação ao GTP/genética , Variação Genética , Proteínas de Choque Térmico HSP70/genética , Proteínas Nucleares/genética , Fatores de Alongamento de Peptídeos/genética , Proteínas Proto-Oncogênicas c-myb/genética , Talassemia beta/genética , Adolescente , Adulto , Grupo com Ancestrais do Continente Asiático , Criança , Pré-Escolar , DNA Intergênico , Feminino , Genes Modificadores , Humanos , Masculino , Proteínas Repressoras , Adulto Jovem
14.
Clin Chim Acta ; 450: 322-6, 2015 Oct 23.
Artigo em Inglês | MEDLINE | ID: mdl-26362610

RESUMO

BACKGROUND: The clinical presentation of patients with congenital hypothyroidism (CH) caused by paired box gene 8 (PAX8) pathogenic variants is variable and PAX8 mutation rates differ significantly among different populations. This study was set to examine the PAX8 mutation spectrum and prevalence among patients with CH in Guangxi Zhuang Autonomous Region, China. METHODS: Peripheral venous blood samples were collected from the patients. Genomic DNA was extracted from peripheral blood leukocytes. All exons of the 11 known CH associated genes including PAX8 together with their exon-intron boundaries were screened by next-generation sequencing (NGS). Permanent or transient CH was determined using the results of thyroid function tests after temporary withdrawal of L-thyroxine (L-T4) therapy at approximately 2 years of age. RESULTS: Next generation sequencing analysis of PAX8 in 378 CH patients revealed five different mutations in nine individuals (two are siblings). The mutations included two known missense variants, namely c.92G>A (p.R31H) and c.91C>T (p.R31C), and one novel missense variant c.68G>T (p.G23V), as well as two novel nonsense variants c.1090C>T (p. R364X) and c.658C>T (p.R220X). The variant c.92G>A (p.R31H) is highly recurrent in our patient cohort but the clinical phenotypes vary greatly among those carrying this variant. PAX8 pathogenic variants were mainly associated with permanent CH. CONCLUSION: The prevalence of PAX8 pathogenic variants was 2.38% among patients with CH in Guangxi. Our study expanded the PAX8 mutation spectrum and provided the best estimation of PAX8 mutation rate among CH patients in Guangxi, China.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Hipotireoidismo Congênito/genética , Mutação , Fatores de Transcrição Box Pareados/genética , Adolescente , Sequência de Bases , Criança , Pré-Escolar , China , Humanos , Lactente , Masculino , Fator de Transcrição PAX8
15.
Am J Infect Control ; 43(1): 78-81, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25564128

RESUMO

BACKGROUND: Airborne bacterial contamination poses a risk for surgical site infection, and routine surveillance of airborne bacteria is important. Traditional methods for detecting airborne bacteria are time consuming and strenuous. Measurement of biologic particle concentrations using a fluorescent particle counter is a novel method for evaluating air quality. The current study was to determine whether the number of biologic particles detected by the fluorescent particle counter can be used to indicate airborne bacterial counts in operating rooms. METHODS: The study was performed in an operating theater at a university hospital in Hefei, China. The number of airborne biologic particles every minute was quantified using a fluorescent particle counter. Microbiologic air sampling was performed every 30 minutes using an Andersen air sampler (Pusong Electronic Instruments, Changzhou, China). Correlations between the 2 different methods were analyzed by Pearson correlation coefficients. RESULTS: A significant correlation was observed between biologic particle and bacterial counts (Pearson correlation coefficient = 0.76), and the counting results from 2 methods both increased substantially between operations, corresponding with human movements in the operating room. CONCLUSION: Fluorescent particle counters show potential as important tools for monitoring bacterial contamination in operating theatres.


Assuntos
Microbiologia do Ar , Monitoramento Ambiental/métodos , Técnicas Microbiológicas/métodos , Salas Cirúrgicas , China , Hospitais Universitários , Humanos
16.
Opt Express ; 22 Suppl 4: A1093-100, 2014 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-24978072

RESUMO

Homoepitaxially grown InGaN/GaN light emitting diodes (LEDs) with SiO2 nanodisks embedded in n-GaN and p-GaN as photonic crystal (PhC) structures by nanospherical-lens photolithography are presented and investigated. The introduction of SiO2 nanodisks doesn't produce the new dislocations and doesn't also result in the electrical deterioration of PhC LEDs. The light output power of homoepitaxial LEDs with embedded PhC and double PhC at 350 mA current is increased by 29.9% and 47.2%, respectively, compared to that without PhC. The corresponding light radiation patterns in PhC LEDs on GaN substrate show a narrow beam shape due to strong guided light extraction, with a view angle reduction of about 30°. The PhC LEDs are also analyzed in detail by finite-difference time-domain simulation (FDTD) to further reveal the emission characteristics.

17.
Opt Express ; 22 Suppl 2: A320-7, 2014 Mar 10.
Artigo em Inglês | MEDLINE | ID: mdl-24922241

RESUMO

Nanopillar AlGaN/GaN multiple quantum wells ultraviolet light-emitting diodes (LEDs) were fabricated by nanosphere lithography and dry-etching. The optical properties of the nanopillar LEDs were characterized by both temperature-dependent and time-resolved photoluminescence measurements. Compared to an as-grown sample, the nanopillar sample has a PL emission peak blue-shift of 7 meV, a 42% enhanced internal quantum efficiency at room temperature and a reduced radiative recombination lifetime from 870 picosecond to 621 picosecond at 7K. These results are directly from the suppressed quantum confined stark effect that is due to the strain relaxation in the nanopillar MQWs, further revealed by micro-Raman measurement. Additionally, finite-difference time domain simulation also proves better light extraction efficiency in the nanopillar LEDs.

18.
Opt Express ; 22(5): A320-7, 2014 Mar 10.
Artigo em Inglês | MEDLINE | ID: mdl-24800288

RESUMO

Nanopillar AlGaN/GaN multiple quantum wells ultraviolet light-emitting diodes (LEDs) were fabricated by nanosphere lithography and dry-etching. The optical properties of the nanopillar LEDs were characterized by both temperature-dependent and time-resolved photoluminescence measurements. Compared to an as-grown sample, the nanopillar sample has a PL emission peak blue-shift of 7 meV, a 42% enhanced internal quantum efficiency at room temperature and a reduced radiative recombination lifetime from 870 picosecond to 621 picosecond at 7K. These results are directly from the suppressed quantum confined stark effect that is due to the strain relaxation in the nanopillar MQWs, further revealed by micro-Raman measurement. Additionally, finite-difference time domain simulation also proves better light extraction efficiency in the nanopillar LEDs.

19.
Opt Lett ; 39(2): 379-82, 2014 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-24562151

RESUMO

Large-scale SiO2 nanodisk arrays fabricated by nanospherical-lens lithography are embedded in the n-GaN and p-GaN layer of an InGaN/GaN light-emitting diode (LED) to produce photonic crystal (PC) structures for efficiency improvement. Following the obvious reduction of view angle, the light output power of bottom, top, and double PC LEDs is enhanced by 74.5%, 60.1%, and 88.2% compared to that of a conventional LED at 350 mA current, respectively. Despite the enhanced external quantum efficiency due to improved crystalline quality and light extraction, these PC LEDs exhibit lower peak efficiency current density and more serious efficiency droop than conventional LEDs. Combined with the rate equation, the droop mechanisms of PC LEDs have also been investigated experimentally and by simulation.

20.
Opt Express ; 21(21): 25373-80, 2013 Oct 21.
Artigo em Inglês | MEDLINE | ID: mdl-24150379

RESUMO

Size-controllable p-GaN hexagonal nanopyramids (HnPs)-photonic crystal (PhC) structures were selectively grown on flat p-GaN layer for the elimination of total internal reflection of light-emitting diodes (LEDs). The LEDs with HnPs-PhC of 46.3% bottom fill factor (PhC lattice constant is 730 nm) showed an improved light output power by 99.9% at forward current of 350 mA compared to the reference LEDs with flat p-GaN layer. We confirmed the effect of HnPs-PhC with different bottom fill factors and the effect of nanopyramid-shaped and nanocolumn-shaped PhC on the light-extraction of LEDs was also investigated by using three-dimensional finite-difference time-domain simulations.

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