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Wilson's disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance

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World Journal of Gastroenterology 2017年第36期23卷 6715-6725页

作者： Kassem Barada aline El Haddad Meghri Katerji Mustapha Jomaa Julnar Usta Department of Internal Medicine American University of Beirut Medical Center Department of Biochemistry and Molecular Genetics Faculty of Medicine American University of Beirut

AIM To determine the phenotypes and predominant diseasecausing mutations in Lebanese patients with Wilson's disease,as compared to regional non-European *** The clinical profile of 36 patients diagnosed in Lebanon was studied and their mutations were determined by molecular *** patients underwent full physical exam,including ophthalmologic slit-lamp examination ultrasound imaging of the liver,as well as measurement of serum ceruloplasmin and 24-h urinaryCu *** addition,genetic screening using PCR followed by sequencing to determine disease-causing mutations and polymorphisms in the ATP7B gene was carried on extracted DNA from patients and immediate family *** phenotypic-genotypic findings were then compared to reported mutations in Wilson's disease patients from regional Arab and non-European countries. RESULTS Patients belonged to extended consanguineous *** majority were homozygous for the disease-causing mutation,with no predominant mutation identified. The most common mutation,detected in 4 out of 13families,involved the ATP hinge region and was present in patients from Lebanon,Egypt,Iran and ***,mutations in Lebanese patients and those of the region were scattered over 17 exons of *** the homozygous exon 12 mutation Trp939Cys was only detected in patients from Lebanon but none from the regional countries,the worldwide common mutation H1069Q was not present in the Lebanese and was rare in the *** hepatic phenotype was predominant in patients from both Lebanon and the region(25%-65%).Furthermore,the majority of patients,including those who were asymptomatic,had evidence of some hepatic *** neurologic phenotype was rare. CONCLUSION Findings do not support presence of a founder *** and genetic screening is recommended for family members with index patients and unexplained hepatic dysfunction.

关键词： Wilson Disease Cu-metabolism Phenotype Genotype ATP7B Hepatic manifestations

Gene capture by transposable elements leads to epigenetic conflict in maize

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Molecular Plant 2021年第2期14卷 237-252页

作者： aline Muyle Danelle Seymour Nikos Darzentas Elias Primetis Brandon S.Gaut Alexandros Bousios Department of Ecology and Evolutionary Biology UC IrvineIrvineCA 92697USA Department of Botany and Plant Sciences UC RiversideRiversideCA 92521USA Central European Institute of Technology Masaryk UniversityBrnoCzech Republic School of Life Sciences University of SussexBrightonUK

Transposable elements(TEs)regularly capture fragments of *** the host silences these TEs,siRNAs homologous to the captured regions may also target the *** epigenetic crosstalk establishes an intragenomic conflict:silencing the TEs has the cost of silencing the *** genes are important,however,natural selection may maintain function by moderating the silencing response,which may also advantage the *** this study,we examined this model by focusing on Helitrons,Pack-MULEs,and Sirevirus LTR retrotransposons in the maize *** documented 1263 TEs containing exon fragments from 1629 donor *** with epigenetic conflict,donor genes mapped more siRNAs and were more methylated than genes with no evidence of ***,these patterns differed between syntelog versus translocated donor *** appeared to maintain function,as measured by gene expression,consistent with moderation of silencing for functionally important *** marks did not spread beyond their captured regions and 24nt crosstalk siRNAs were linked with CHH *** genes,in contrast,bore the signature of *** were highly methylated and less expressed,but also overrepresented among donor genes and located away from chromosomal arms,which suggests a link between capture and gene *** genes into potential functional categories based on evolutionary constraint supported the synteny-based *** families captured genes in different ways,but the evidence for their advantage was generally less obvious;nevertheless,TEs with captured fragments were older,mapped fewer siRNAs,and were slightly less methylated than TEs without captured ***,our results argue that TE capture triggers an intragenomic conflict that may not affect the function of important genes but may lead to the pseudogenization of less-constrained genes.

关键词： transposable elements intragenomic conflict gene capture epigenetic silencing methylation synteny

MUTYH-associated polyposis: Is it time to change upper gastrointestinal surveillance? A single-center case series and a literature overview

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World Journal of Gastrointestinal Oncology 2023年第11期15卷 1891-1899页

作者： Lupe Sanchez-Mete Lorenzo Mosciatti Marco Casadio Luigi Vittori aline Martayan Vittoria Stigliano Gastroenterology and Digestive Endoscopy Regina Elena National Cancer InstituteIRCCSRome 00144Italy Department of Radiological Oncological and Pathological SciencesRegina Elena National Cancer InstituteIRCCSRome 00144Italy

BACKGROUND The presence of Spigelman stage(SS)IV duodenal polyposis is considered the most significant risk factor for duodenal cancer in patients with MUTYH-associated polyposis(MAP).However,advanced SS disease is rarely reported in MAP patients,and no clear recommendations on small bowel(SB)surveillance have been proposed in this patient *** To research more because that case reports of duodenal cancers in MAP suggest that they may develop in the absence of advanced benign SS disease and often involve the distal portion of the *** We describe a series of MAP patients followed up at the Regina Elena National Cancer Institute of Rome(Italy).A literature overview on previously reported SB cancers in MAP is also *** We identified two(6%)SB adenocarcinomas with no previous history of duodenal *** observations,supported by literature evidence,suggest that the formula for staging duodenal polyposis and predicting risk factors for distal duodenum and jejunal cancer may need to be adjusted to take this into account rather than focusing solely on the presence or absence of SS IV *** Tip:Case reports of duodenal cancers in MUTYH-associated polyposis suggest that they may develop in the absence of advanced Spigelman stage(SS)benign disease and often involve the distal portion of the *** our case series,we identified two(6%)small-bowel adenocarcinomas with no previous history of duodenal *** observations,supported by literature evidence,suggest that the formula for staging duodenal polyposis and predicting risk factors for distal duodenum and jejunal cancer should be adjusted to take into consideration the presence of SS IV disease,rather than focusing only on this *** of invasive adenocarcinoma.

关键词： MUTYH-associated polyposis Duodenal adenomatosis Duodenal cancer Endoscopic management Case report

High Order of Accuracy for Poisson Equation Obtained by Grouping of Repeated Richardson Extrapolation with Fourth Order Schemes

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Computer Modeling in Engineering & Sciences 2021年第8期128卷 699-715页

作者： Luciano Pereira da Silva Bruno Benato Rutyna aline Roberta Santos Righi Marcio Augusto Villela Pinto Graduate Program in Numerical Methods in Engineering Federal University of ParanaCuritiba81531-980Brazil Graduate Program in Space Sciences and Technologies Aeronautics Institute of TechnologySao Jose dos Campos12228-900Brazil Department of Mechanical Engineering Federal University of ParanaCuritiba81531-980Brazil

In this article,we improve the order of precision of the two-dimensional Poisson equation by combining extrapolation techniques with high order *** high order solutions obtained traditionally generate non-sparse matrices and the calculation time is very *** can obtain sparse matrices by applying compact *** this article,we compare compact and exponential finite difference schemes of fourth *** numerical solutions are calculated in quadruple precision(Real*16 or extended precision)in FORTRAN language,and iteratively obtained until reaching the round-off error magnitude around 1.0E−*** procedure is performed to ensure that there is no iteration *** Repeated Richardson Extrapolation(RRE)method combines numerical solutions in different grids,determining higher orders of *** main contribution of this work is based on a process that initializes with fourth order solutions combining with RRE in order to find solutions of sixth,eighth,and tenth order of *** multigrid Full Approximation Scheme(FAS)is also applied to accelerate the convergence and obtain the numerical solutions on the fine grids.

关键词： Tenth order accuracy RRE compact scheme exponential scheme multigrid finite difference

Deciphering the role of PGC-1α in neurological disorders: from mitochondrial dysfunction to synaptic failure

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Neural Regeneration Research 2022年第2期17卷 237-245页

作者： Jessica D.Panes aline Wendt Oscar Ramirez-Molina Patricio A.Castro Jorge Fuentealba Laboratorio de Screening de Compuestos Neuroactivos(LSCN) Departamento de FisiologiaFacultad de Ciencias BiologicasUniversidad de ConcepcionConcepcionChile Centro de Investigaciones Avanzadas en Biomedicina(CIAB-UdeC) Facultad de Ciencias BiologicasUniversidad de ConcepcionConcepcionChile Departamento de Fisiologia Facultad de Ciencias BiologicasUniversidad de ConcepcionConcepcionChile

The onset and mechanisms underlying neurodegenerative diseases remain uncertain. The main features of neurodegenerative diseases have been related with cellular and molecular events like neuronal loss, mitochondrial dysfunction and aberrant accumulation of misfolded proteins or peptides in specific areas of the brain. The most prevalent neurodegenerative diseases belonging to age-related pathologies are Alzheimer's disease, Huntington's disease, Parkinson's disease and amyotrophic lateral sclerosis. Interestingly, mitochondrial dysfunction has been observed to occur during the early onset of several neuropathological events associated to neurodegenerative diseases. The master regulator of mitochondrial quality control and energetic metabolism is the transcriptional coactivator peroxisome proliferator-activated receptor gamma coactivator 1-alpha(PGC-1α). Additionally, it has been observed that PGC-1α appears to be a key factor in maintaining neuronal survival and synaptic transmission. In fact, PGC-1α downregulation in different brain areas(hippocampus, substantia nigra, cortex, striatum and spinal cord) that occurs in function of neurological damage including oxidative stress, neuronal loss, and motor disorders has been seen in several animal and cellular models of neurodegenerative diseases. Current evidence indicates that PGC-1α upregulation may serve as a potent therapeutic approach against development and progression of neuronal damage. Remarkably, increasing evidence shows that PGC-1α deficient mice have neurodegenerative diseases-like features, as well as neurological abnormalities. Finally, we discuss recent studies showing novel specific PGC-1α isoforms in the central nervous system that appear to exert a key role in the age of onset of neurodegenerative diseases and have a neuroprotective function in the central nervous system, thus opening a new molecular strategy for treatment of neurodegenerative diseases. The purpose of this review is to provide an up-t

关键词： Alzheimer's disease amyotrophic lateral sclerosis Huntington's disease mitochondrial dysfunction Parkinson's disease PGC-1α synaptic function vascular dementia

Attributes of stand-age-dependent forest determine technosol fertility of Atlantic forest re-growing on mining tailings in Mariana,Brazil

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Journal of Forestry Research 2022年第1期33卷 103-116页

作者： Pedro Manuel Villa Sebastião Venâncio Martins aline Pilocelli Gabriel Correa Kruschewsky Andreia Aparecida Dias Fabio Haruki Nabeta Forest Restoration Laboratory Department of Forest EngineeringUniversidade Federal de ViçosaViçosaMinas GeraisBrazil Fundação Renova Belo HorizonteMinas GeraisBrazil

Understanding how soil fertility changes due to environmental conditions and stand-age-dependent forest attributes is important for local-scale forest *** evaluated the effects of stand-age-dependent forest attributes(plant community composition and litter stock)on soil and technosol fertility across two second-growth Atlantic forests(SGF)after the deposition of mining tailings in Mariana,southeastern *** hypothesized that technosol fertility in the SGF tailings is positively affected by plant community composition variability,stand age,and litter *** used total exchangeable bases and organic matter as fertility indicators for technosol and soil,and species composition and litter stock as stand-age-dependent forest *** results showed significant differences in the stand-age-dependent forest attributes and soil chemical properties between the two forest patches(SGF tailing and SGF non-tailing)***,there was a marked gradient of litter storage and fertility between soil and technosol that can be important forest recovery indicators for the affected plant ***,according to the tested models,we corroborated the hypothesis that technosol fertility is positively affected by stand age,plant community composition variability,and litter stock,which may contribute considerably to forest recovery on *** results demonstrate that the fertility predictors analyzed to explain the forest recovery on tailings can also be considered as ecological indicators for assessing forest restoration in areas impacted by mining tailings in Mariana.

关键词： Ecological indicators Forest recovery Litter stock Nutrient recovery Technosol

Electrochemical ageing study of mixed lanthanum/praseodymium nickelates La2-xPrxNiO4+δ as oxygen electrodes for solid oxide fuel or electrolysis cells

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Journal of Energy Chemistry 2020年第7期29卷 62-70,I0003页

作者： Vaibhav Vibhu Aurélien Flura aline Rougier Clément Nicollet Sébastien Fourcade Teresa Hungria Jean-Claude Grenier Jean-Marc Bassat CNRS Univ.BordeauxBordeaux INPICMCBUMR 5026F-33600 PessacFrance Centre de Microcaractérisation Raimond CASTAING Universitéde ToulouseCNRSUT3–Paul SabatierINPINSAEspace Clément Ader3 rue Caroline AigleToulouse 31400France

The chemical and electrochemical stability of lanthanide nickelates La2 NiO4+δ(LNO),Pr2 NiO4+δ(PNO)and their mixed compounds La(2-x)PrxNiO4+δ(LPNOs)with x=0.5,1 or 1.5 is *** aim is to promote these materials as efficient electrodes for solid oxide fuel cell(SOFC)and/or solid oxide electrolysis cell(SOEC).La2 NiO4+δand La1.5Pr0.5NiO4+δcompounds are chemically very stable as powders over one month in the temperature range 600-800℃,while the other materials rich in praseodymium progressively decompose into various perovskite-deriving components with additional Pr6 *** their uneven properties,all these materials are quite efficient and sustainable as electrodes on top of gadolinium doped ceria(GDCBL)//yttrium doped zirconia(8 YSZ)electrolyte,for one month at 700℃without *** polarization(300 mA·cm-2),the electrochemical performances of LNO,PNO and La1.5Pr0.5NiO4+δ(LP5 NO)quickly degrade in SOFC mode,*** the oxygen reduction reaction,while they show durability in SOEC mode,*** the oxide oxidation reaction.

关键词： Lanthanide nickelates SOFC cathode SOEC anode Stability Inductive loop Degradation

Innate lymphoid cells in tissue homeostasis and diseases

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World Journal of Hepatology 2017年第23期9卷 979-989页

作者： aline Ignacio Cristiane Naffah Souza Breda Niels Olsen Saraiva Camara Laboratory of Transplantation Immunobiology Institute of Biomedical SciencesDepartment of ImmunologyUniversity of Sao PauloSP 05508-900Brazil

Innate lymphoid cells(ILCs) are the most recently discovered family of innate immune cells. They are a part of the innate immune system, but develop from the lymphoid lineage. They lack pattern-recognition receptors and rearranged receptors, and therefore cannot directly mediate antigen specific responses. The progenitors specifically associated with the ILCs lineage have been uncovered, enabling the distinction between ILCs and natural killer cells. Based on the requirement of specific transcription factors and their patterns of cytokine production, ILCs are categorized into three subsets(ILC1, ILC2 and ILC3). First observed in mucosal surfaces, these cell populations interact with hematopoietic and non-hematopoietic cells throughout the body during homeostasis and diseases, promoting immunity, commensal microbiota tolerance, tissue repair and inflammation. Over the last 8 years, ILCs came into the spotlight as an essential cell type able to integrate diverse host immune responses. Recently, it became known that ILC subsets play a key role in immune responses at barrier surfaces, interacting with the microbiota, nutrients and metabolites. Since the liver receives the venous blood directly from the intestinal vein, the intestine and liver are essential to maintain tolerance and can rapidly respond to infections or tissue damage. Therefore, in this review, we discuss recent findings regarding ILC functions in homeostasis and disease, with a focus on the intestine and liver.

关键词： Innate lymphoid cells Intestine Liver Homeostasis Inflammatory diseases

ADRB2, ADRB3, BDKRB2 and MTNR1B Genes Related to Body fat Modulation and ItsInteraction with Physical Activity and Blood Pressure

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Open Journal of Endocrine and Metabolic Diseases 2015年第7期5卷 88-97页

作者： aline Marcadenti Department of Nutrition Universidade Federal de Ciências da Saúde de Porto Alegre (UFSCPA) Porto AlegreBrazil Postgraduate Studies Program in Cardiology Instituto de Cardiologia/Fundacao Universitária de Cardiologia do Rio Grande do Sul (IC/FUC) Porto Alegre Brazil

Hypertension (HTN) is the risk factor that most contributes to mortality rates in the world, followed by physical inactivity and obesity. Despite the influence of genetic factors on the genesis of HTN, blood pressure levels are strongly influenced by environmental factors such as physical inactivity and overweight, characterizing it as a polygenic disease. Genetic components and environmental factors such as physical exercise may modulate the phenotype of individuals predisposed to medical conditions such as HTN, independently of modifiable factors such as increased levels of adiposity;however, studies have shown that polymorphic forms detected in genes involved in the mechanisms of blood pressure regulation and also related to body fat modulation may interact with physical activity levels and HTN. The aim of this article is to review the interactions between polymorphisms in ADRB2, ADRB3, BDKRB2 and MTNR1B genes, physical activity and blood pressure.

关键词： Receptors Adrenergic Beta-2 Receptor Bradykinin B Obesity Hypertension