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Medium-chain acyl-CoA dehydrogenase deficiency: prevalence of ACADM pathogenic variants c.985A>G and c.199t>C in a healthy population in Rio Grande do Sul, Brazil

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Reproductive and Developmental Medicine 2022年第2期6卷 92-97页

作者： Mariana Lopes dos Santos Devora Natalia Randon Fernanda Hendges de Bitencourt Fernanda Sperb-Ludwig Fernanda Sales Luiz Vianna Carmen Regia Vargas angela Sitta Ida Vanessa Doederlein Schwartz Postgraduate Program in Medicine:Medical Sciences(PPGCM) Universidade Federal do Rio Grande do Sul(UFRGS)Porto AlegreRSBrazil Laboratory of Basic Research and Advanced Investigations in Neurosciences(BRAIN) Experimental Research ServiceHospital de Clinicas de Porto AlegrePorto AlegreRSBrazil Postgraduate Program in Genetics and Molecular Biology Universidade Federal do Rio Grande do Sul(UFRGS)Porto AlegreRSBrazil INaGEMP Instituto Nacional de Genetica Medica PopulacionalHospital de Clinicas de Porto AlegrePorto AlegreRSBrazil Laboratory of Genomic Medicine Experimental Research ServiceHospital de Clinicas de Porto AlegrePorto AlegreRSBrazil Servico de Genetica Medica(SGM) Hospital de Clinicas de Porto AlegrePortoAlegreRSBrazil Genetics Department Universidade Federal do Rio Grande do Sul(UFRGS)Porto AlegreRSBrazil

objectives::to investigate the prevalence of ACADM pathogenic variants, c.985A>G and c.199t>C, for medium chain acyl CoA dehydrogenase deficiency (MCADD) in a healthy population in the southern region of Brazil. Methods::this was an observational cross-sectional study with a convenience sampling strategy. the participants were recruited from the blood bank of the Hospital de Clínicas of Porto Alegre, Brazil. A total of 1000 healthy individuals from the state of Rio Grande do Sul were included. Genotyping for the c.199t>C and c.985A>G variants was performed using real-time polymerase chain reaction (PCR) and the PCR-restriction fragment length polymorphism (RFLP) technique, respectively. Individuals considered heterozygous for c.985A>G were subjected to additional acylcarnitine profile analysis using tandem mass spectrometry. Carrier frequency was obtained by calculating the ratio of heterozygous individuals to the total number of individuals analyzed and reported with a 95% confidence interval. Allele and genotype frequencies were calculated based on the Hardy-Weinberg ***::the c.985A>G variant was detected as heterozygotes in three individuals (frequency of the heterozygous genotype = 1:333, allele frequency= 0.0015, minimum frequency of MCADD= 1:444,444) whose acylcarnitine profiles were within normal limits. the c.199t>C variant was not ***::Considering the small sample size and associated allelic heterogeneity with MCADD, these findings are believed to denote the rarity or underdiagnosis of MCADD in southern Brazil. this study provides evidence for the need for further investigation to ascertain the contribution of these diseases to child morbidity and mortality in the country.

关键词： ACADM Medium-chain acyl-CoA dehydrogenase deficiency Sudden unexpected death in infancy

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oxygen sufficiency controls toP mRNA translation via the tSC-Rheb-mtoR pathway in a 4E-BP-independent manner

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Journal of Molecular Cell Biology 2014年第3期8卷 255-266页

作者： rachel Miloslavski Elad Cohen Adam Avraham Yifat I luz Zvi Hayouka Judith Kasir Rajini Mudhasani Stephen N. Jones Nadine Cybulski Markus A. Ruegg ola Larsson Valentina Gandin Arjuna Rajakumar Ivan topisirovic oded Meyuhas Department of Biochemistry and Molecular Biology The Institute for Medical Research - Israel-Canada The Hebrew University-Hadassah Medical School Jerusalem 91120 Israel Department of Cell Biology University of Massachusetts Medical School North Worcester MA 01655 USA Biozentrum University of Basel Klingelbergstrasse 70 CH-4056 Basel Switzerland Department of oncolo'gy-Pathology Karolinska Instituie Stockholm SE-171 76 Sweden Lady Davis Institute for Medical Research Sir Mortimer B. Davis-Jewish General Hospital and Department of Oncology McGill University Montreal QC H3T 1E2 Canada Present address: Migal-Galilee Research Institute Kiryat Shmona 11016 Israel Present address: United States Army Medical Research Institute of Infectious Diseases Frederick MD 21702-5011 USA Present address: ADAM Montreal QC H3N 2C7 Canada

Cells encountering hypoxic stress conserve resources and energy by downregulating the protein synthesis. Here we demonstrate that one mechanism in this response is the translational repression of toP mRNAs that encode components of the translational apparatus. this mode of regulation involves tSC and Rheb, as knockout of tSC1 or tSC2 or overexpression of Rheb rescued toP mRNA translation in oxygen-deprived celts. Stress-induced translational repression of these mRNAs closely correlates with the hypophosphorylated state of 4E-BP, a translational repressor. However, a series of 4E-BP loss- and gain-of-function experiments disprove a cause-and- effect relationship between the phosphorylation status of 4E-BP and the translational repression of toP mRNAs under oxygen or growth factor deprivation. Furthermore, the repressive effect of anoxia is similar to that attained by the very efficient inhibition of mtoR activity by torin 1, but much more pronounced than roptor or rictor knockouL Likewise, deficiency of raptor or rictor, even though it mildly downregulated basal translation efficiency of toP mRNAs, failed to suppress the oxygen-mediated translational activation of toP mRNAs. Finally, co-knockdown of tIA-1 and tIAR, two RNA-binding proteins previously implicated in translational repression of toP mRNAs in amino acid-starved cells, failed to relieve toP mRNA translation under other stress conditions. thus, the nature of the proximal translational regulator of toP m RNAs remains elusive.

关键词： hypoxia rotoR toP mRNAs translational control 4E-BP

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上妆关键词

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西部广播电视 2009年第8期30卷 224-225页

作者： rachel

虽说FASHIoN WEEK上衣服是主角,但是善于察言观色的人还是喜欢在这里寻找妆容流行的潮流的蛛丝马迹,一干顶级潮流制造者的聚会,怎么舍得落下搭衬服装最不可少的美丽妆容。面对比调色盘还复杂千万倍的彩妆,你是否有点选择恐惧,看着t台上... 详细信息

虽说FASHIoN WEEK上衣服是主角,但是善于察言观色的人还是喜欢在这里寻找妆容流行的潮流的蛛丝马迹,一干顶级潮流制造者的聚会,怎么舍得落下搭衬服装最不可少的美丽妆容。面对比调色盘还复杂千万倍的彩妆,你是否有点选择恐惧,看着t台上的顶尖潮流,紧握关键词,一切都由繁化简。

关键词：潮流制造者化妆彩妆

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神经损伤与功能重建 2024年第8期19卷 F0003-F0003页

作者： Adina N MacMahon Copas Sarah F McComish Andreea Petrasca rachel McCormack Daniel Ivers Anna Stricker Jean M Fletcher Maeve A Caldwell 唐颖馨 Discipline of Physiology School of MedicineTrinity Biomedical Sciences InstituteTrinity College DublinDublinIreland trinity College Institute for Neuroscience Trinity CollegeDublinIreland School of Biochemistry and Immunology Trinity Biomedical Sciences InstituteTrinity College DublinDublinIreland School of Medicine Trinity Biomedical Sciences InstituteTrinity College DublinDublinIreland 不详

星形胶质细胞是维持稳态的介质,但在帕金森病(Parkinson’s disease,PD)中参与神经炎症。越来越多的证据表明外周免疫细胞参与了PD的发病机制。因此,本研究旨在确定外周免疫细胞分泌的细胞因子在调节中脑星形胶质细胞反应性中的潜在作... 详细信息

星形胶质细胞是维持稳态的介质,但在帕金森病(Parkinson’s disease,PD)中参与神经炎症。越来越多的证据表明外周免疫细胞参与了PD的发病机制。因此,本研究旨在确定外周免疫细胞分泌的细胞因子在调节中脑星形胶质细胞反应性中的潜在作用。人类诱导性多能干细胞(iPSC)衍生的中脑星形胶质细胞暴露于5%和10%的CD4^(+)t细胞条件培养基(CD4CM)24小时、72小时和7天,以评估长期暴露的影响。此外,星形胶质细胞还暴露于th17细胞细胞因子IL-17A(10 ng/mL),单独或与tNF-α(0.3 ng/mL)结合,在24小时、72小时和7天评估2种细胞因子可能的协同效应。CD4CM在中脑星形胶质细胞中引起了急性及长期的变化。观察到了NFκB向细胞核的转移增加,以及在24小时时促炎基因IL-1β和CXCL10的表达增加;在24小时和48小时时C3、LCN2和IL-6的表达增加;同时在这些时间点促炎细胞因子IL-6和CXCL10的释放也有所增加。IL-17A和tNF-α的组合对增加促炎基因表达和细胞因子释放产生了协同效应。IL-17A和tNF-α在24小时时增加了S100β的强度,在72小时时减少了细胞核面积并增加了星形胶质细胞的圆度。在72小时时观察到了γH2AX强度的协同效应,并且在7天时观察到了乳酸脱氢酶(LDH)释放的增加。我们的结果表明,IL-17A和tNF-α协同作用,增强了中脑星形胶质细胞的反应性,其程度类似于CD4CM。这突出了外周免疫细胞分泌的细胞因子在增强中脑星形胶质细胞反应状态方面的重要性,并提示了它们在PD发病机制中的可能作用。

关键词：帕金森病星形胶质细胞细胞因子诱导性多能干细胞神经炎症反应性星形胶质细胞

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IFN-γ is critical for disease pathogenesis in a spontaneous mouse model of autoimmune uveitis

IFN-γ is critical for disease pathogenesis in a spontaneous...

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第十届全国免疫学学术大会

作者： Jun Chen Reiko Horai Phyllis Silver rachel Caspi State Key Laboratory of ophthalmology Zhongshan Ophthalmic Center Sun Yat-sen University

Purpose: A pathogenic role for IFN-γ producing th1 cells in autoimmunity was put into question by the recent discovery of IL-17 producing th17 cells. Like other tissue-specific autoimmunity models induced by autoantigen in complete Freund’s adjuvant(CFA), experimental autoimmune uveitis(EAU) induced by IRBP/CFA is predominantly th17-dependent and deficiency of IFN-γ exacerbates the disease. to elucidate the role of IFN-γ in IRBP-specific effector t cell responses and pathogenesis of uveitis in a physiologic context without strong exogenous stimuli, we generated an IRBPspecific tCR tg mouse(R161H) on an IFN-γ knockout(GKo) *** ***: CFA emulsion was injected subcutaneously into R161H-GKo mice at the onset of spontaneous disease. Disease score, t-cell proliferation and t-cell activation, and taq Man PCR were ***: Essentially all R161 H mice developed severe spontaneous uveitis by 2-3 months of age. the ocular infiltrates contained both IFN-γ and IL-17 producing effector t cells, as well as other inflammatory leukocytes. Deficiency of IFN-γ delayed the onset and markedly decreased the severity of disease. Although the frequency of IRBP-specific t cells and their proliferative responses were not affected, IRBP-activated t cells from R161H-GKo mice transferred attenuated disease to recipient mice, indicating that the defect is t cell-intrinsic. Notably, deficiency of IFN-γ did not precipitate a compensatory th17 response locally or systemically. However, injection of a "blank" CFA emulsion into R161H-GKo mice enhanced the IRBP-specific th17 effector response, increased CCR6+IL-17+ cell infiltration into the eye and restored EAU incidence and ***: our results point to a pathogenic role of IFN-γ and th1 cells in spontaneous autoimmune disease. the findings suggest that while forcing a th17 response can compensate for lack of IFN-γ, the central role of the th17 effector in tissue-specific autoimmunity, as defined in CFA-driven

关键词： Autoimmune uveitis IFN-γ mice experimental autoimmune uveitis

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Regulating the morphology of fluorinated non-fullerene acceptor and polymer donor via binary solvent mixture for high efficiency polymer solar cells

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Science China Chemistry 2019年第9期62卷 1221-1229页

作者： Mengxue Chen Zhuohan Zhang Wei Li Jinlong Cai Jiangsheng Yu Emma L. K. Spooner rachel C. Kilbride Donghui Li Baocai Du Robert S. Gurney Dan Liu Weihua tang David G. Lidzey tao Wang School of Materials Science and Engineering Wuhan University of Technology Wuhan 430070 China State Key Laboratory of Silicate Materials for Architectures Wuhan University of Technology Wuhan 430070 China School of Chemical Engineering Nanjing University of Science and Technology Nanjing 210094 China Department of Physics and Astronomy University of Sheffield Sheffield S3 7RH UK

Fluorinated non-fullerene acceptors(NFAs) usually have planar backbone and a higher tendency to crystallize compared to their non-fluorinated counterparts, which leads to enhanced charge mobility in organic solar cells(oSCs). However, this selforganization behavior may result in excessive phase separation with electron donors and thereby deteriorate device ***, we demonstrate an effective approach to tune the molecular organization of a fluorinated NFA(INPIC-4 F), and its phase separation with the donor PBDB-t, by varying the casting solvent. A prolonged film drying time encourages the crystallization of INPIC-4 F into spherulites and consequently results in excessive phase separation, leading to a low device power conversion efficiency(PCE) of 8.1%. Contrarily, a drying time leads to fine mixed domains with inefficient charge transport properties,resulting in a moderate device PCE of 11.4%. An intermediate film drying time results in the formation of face-on π-π stacked PBDB-t and INPIC-4 F domains with continuous phase-separated networks, which facilitates light absorption, exciton dissociation as well as balanced charge transport towards the electrode, and achieves a remarkable PCE of 13.1%. this work provides a rational guide for optimizing the molecular ordering of NFAs and electron donors for high device efficiency.

关键词： organic solar cells non-fullerene acceptors solvent morphology efficiency

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Evading the host response:Staphylococcus“hiding”in cortical bone canalicular system causes increased bacterial burden

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Bone Research 2020年第4期8卷 447-457页

作者： Stephen D.Zoller Vishal Hegde Zachary D.C.Burke Howard Y.Park Chad R.Ishmael Gideon W.Blumstein William Sheppard Christopher Hamad Amanda H.Loftin Daniel o.Johansen Ryan A.Smith Marina M.Sprague Kellyn R.Hori Samuel J.Clarkson rachel Borthwell Scott I.Simon Jeff F.Miller Scott D.Nelson Nicholas M.Bernthal Department of orthopedic Surgery University of CaliforniaLos Angeles125016th St Suite 2100Santa MonicaCA 90404USA David Geffen School of Medicine University of CaliforniaLos Angeles10833 Le Conte AveLos AngelesCA 90095USA Department of Internal Medicine University of CaliforniaLos Angeles757 Westwood PlazaSuite 7501Los AngelesCA 90095USA Department of Biomedical Engineering University of CaliforniaDavisDavisCA 95616USA California NanoSystems Institute University of CaliforniaLos Angeles570 Westwood PlazaLos AngelesCA 90095USA Department of Microbiology Immunologyand Molecular GeneticsDavid Geffen School of MedicineUniversity of CaliforniaLos Angeles 90095USA Department of Pathology University of CaliforniaLos Angeles125016th St Suite 3450Santa MonicaCA 90404USA

Extremity reconstruction surgery is increasingly performed rather than amputation for patients with large-segment pathologic bone *** persists as to the optimal void filler for this“limb salvage”surgery,whether metal or allograft *** focus on optimizing important functional gains for patients,and the risk of devastating implant infection has been thought to be similar regardless of implant *** insights into infection pathophysiology are challenging this equipoise,however,with both basic science data suggesting a novel mechanism of infection of Staphylococcus aureus(the most common infecting agent)into the host lacunar–canaliculi network,and also clinical data revealing a higher rate of infection of allograft over *** current translational study was therefore developed to bridge the gap between these insights in a longitudinal murine model of infection of allograft bone and ***-time Staphylococci infection characteristics were quantified in cortical bone vs metal,and both microarchitecture of host implant and presence of host immune response were *** orders-of-magnitude higher bacterial burden was established in cortical allograft bone over both metal and cancellous *** establishment of immune-evading microabscesses was confirmed in both cortical allograft haversian canal and the submicron canaliculi network in an additional model of mouse femur bone *** study results reveal a mechanism by which Staphylococci evasion of host immunity is possible,contributing to elevated risks of infection in cortical *** presence of this local infection reservoir imparts massive clinical implications that may alter the current paradigm of osteomyelitis and bulk allograft infection treatment.

关键词： immunity insight reservoir

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Cystic fibrosis transmembrane conductance regulator functional evaluations in a G542X+/-IVS8tn:t7/9 patient with acute recurrent pancreatitis

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World Journal of Clinical Cases 2019年第22期7卷 3757-3764页

作者： Sara Caldrer Gabriella Bergamini angela Sandri Silvia Vercellone Luca Rodella Angelo Cerofolini Francesco tomba Filippo Catalano Luca Frulloni Mario Buffelli Gloria tridello Hugo de Jonge Baroukh Maurice Assael Claudio Sorio Paola Melotti Department of Medicine General Pathology DivisionCystic Fibrosis Translational Research Laboratory“D.Lissandrini”University of VeronaVerona 37134Italy Cystic Fibrosis Center Azienda Ospedaliera Universitaria Integrata VeronaVerona 37126Italy Endoscopic Surgery Unit Azienda Ospedaliera Universitaria Integrata VeronaVerona 37126Italy Department of Medicine Pancreas CenterUniversity of VeronaVerona 37134Italy Department of Neurosciences Biomedicine and Movement SciencesPhysiology Section UniversityVerona 37126Italy Gastroenterology and Hepatology Erasmus University Medical CenterRotterdam 3015Netherlands

BACKGRoUND Acute recurrent pancreatitis(ARP)is characterized by episodes of acute pancreatitis in an otherwise normal *** no cause of ARP is identifiable,the diagnosis of"idiopathic"ARP is *** in the cystic fibrosis transmembrane conductance regulator(CFtR)gene increase the risk of ARP by 3-to 4-times compared to the general population,while cystic fibrosis(CF)patients present with a 40-to 80-times higher risk of developing *** SUMMARY In non-classical CF or CFtR-related disorders,CFtR functional tests can help to ensure a proper *** applied an individualized combination of standardized and new CFtR functional bioassays for a patient referred to the Verona CF Center for evaluation after several episodes of acute *** CFtR genotype was G542X+/-with IVS8tn:t7/9 *** sweat(Cl-)values were *** current measurements were performed according to the European Cystic Fibrosis Society Standardized operating *** nasal surgery for deviated septum did not allow for nasal potential difference *** function and sputum cultures were normal;azoospermia was *** divisum was excluded by imaging but hypoplasia of the left hepatic lobe was *** tests applied in this case include sweat rate measurement by image analysis,CFtR function in monocytes evaluated using a membrane potential-sensitive fluorescent probe,and the intestinal organoids forskolin-induced swelling *** Combination of innovative CFtR functional assays might support a controversial diagnosis when CFtR-related disorders and/or non-classical CF are suspected.

关键词： Recurrent acute pancreatitis Cystic fibrosis Cystic fibrosis transmembraneconductance regulator function Intestinal current organoids Sweat test Controversialdiagnosis Case report

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印第安人,你好

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初中生 2019年第Z3期 14-17页

作者： angela Baylor 不详

新墨西哥州是各种不同文化共同生长的栖息地。最早的原住民是印第安人,西班牙人则是17世纪到达的。西部的狂野从来没有离开过阿尔伯克基,牛仔们依然很忙。印第安土著、西班牙裔移民、纽约艺术家、墨西哥二代移民,以及来自美国其他地区... 详细信息

新墨西哥州是各种不同文化共同生长的栖息地。最早的原住民是印第安人,西班牙人则是17世纪到达的。西部的狂野从来没有离开过阿尔伯克基,牛仔们依然很忙。印第安土著、西班牙裔移民、纽约艺术家、墨西哥二代移民,以及来自美国其他地区的国内移民,在这里和平共处,互相影响,互相依存。新墨西哥州一共有22个印第安人部落。

关键词：文化移民原住民栖息地纽约西班牙新墨西哥州狂野

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Food and Nutrition Sciences 2023年第10期14卷 984-996页

作者： Ellen Rodrigues dos Santos José Eduardo Corrente rachel Santos Bueno Carvalho Giovana Fumes-Ghantous Department of Basic Sciences Faculty of Animal Science and Food Engineering University of S&#227o Paulo Pirassununga Brazil Research Support Group S&#227o Paulo State University “Júlio de Mesquita Filho” Botucatu Brazil

this study aimed to evaluate the features related to consumers’ reading nutritional labels in a city in the interior of the São Paulo State, Brazil. A questionnaire was answered by 100 consumers of a supermarket chain, sociodemographic information and data related to label reading habits were collected. tables with percentage values and bar graphs were used. Chi-square tests and logistic regression models were performed to verify the association between the variables and the label reading habits. the factors that showed significant associations with the reading labels were gender, ease to understand the labels and access to their information (p 0.10). People who had already read labels reported to have more difficulty to understand the information contained on them, and people who had already received instructions on the labels were three and a half times more likely to read the instructions contained on them than those who hadn’t received any guidance. this study points to the need to expand the disclosure to consumers about the contents present on the labels, through more accessible language, so that the labels fulfill their role to instruct consumers in their choices.

关键词： Association tests Label Logistic Regression

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