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Novel TINF2 gene mutation in dyskeratosis congenita with extremely short telomeres:A case report

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World Journal of Clinical Cases 2022年第33期10卷 12440-12446页

作者： Verónica Judith Picos-Cárdenas Saúl Armando Beltrán-Ontiveros JoséAlfonso Cruz-Ramos JoséAlfredo Contreras-Gutiérrez Eliakym Arámbula-Meraz Carla Angulo-Rojo Alma Marlene Guadrón-Llanos Emir Adolfo Leal-León Dora María Cedano-Prieto Juan Pablo Meza-Espinoza Laboratorio de Genética Facultad de MedicinaUniversidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Centro de Investigación y Docencia en ciencias de la Salud Hospital Civil de CuliacánUniversidad Autónoma de SinaloaCuliacán 80030SinaloaMexico departamento de Clínicas Médicas Centro Universitario de Ciencias de la SaludUniversidad de GuadalajaraGuadalajara 44340JaliscoMexico facultad de Medicina Universidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Laboratorio de Genética y Biología Molecular Facultad de Ciencias Químico-BiológicasUniversidad Autónoma de SinaloaCuliacán 80010SinaloaMexico Laboratorio de Neurociencias Facultad de MedicinaUniversidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Laboratorio de Diabetes y Comorbilidades Facultad de MedicinaUniversidad Autónoma de SinaloaCuliacán 80018SinaloaMexico facultad de Medicina Universidad Autónoma de TamaulipasMatamoros 87349TamaulipasMexico

BACKGROUND Dyskeratosis congenita is a rare disease characterized by bone marrow failure and a clinical triad of oral leukoplakia,nail dystrophy,and abnormal skin pigmentation.The genetics of dyskeratosis congenita include mutations in genes involved in telomere maintenance,including TINF2.CASE SUMMARY Here,we report a female patient who presented thrombocytopenia,anemia,reticulate hyperpigmentation,dystrophy in fingernails and toenails,and leukoplakia on the tongue.A histopathological study of the skin showed dyskeratocytes;however,a bone marrow biopsy revealed normal cell morphology.The patient was diagnosed with dyskeratosis congenita,but her family history did not reveal significant antecedents.Whole-exome sequencing showed a novel heterozygous punctual mutation in exon 6 from the TINF2 gene,namely,NM_001099274.1:-c.854delp.(Val285-Alafs*32).An analysis of telomere length showed short telomeres relative to the patient’s age.CONCLUSION The disease in this patient was caused by a germline novel mutation of TINF2 in one of her parents.

关键词： Dyskeratosis congenita TINF2 Germline mutation Novel mutation Short telomeres Case report

Occurrence and Roles of Comammox Bacteria in Water and Wastewater Treatment Systems:A Critical Review

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Engineering 2022年第10期17卷 196-206页

作者： Naga Raju Maddela Zhihao Gan Yabing Meng Fuqiang Fan Fangang Meng School of Environmental Science and Engineering Sun Yat-sen UniversityGuangzhou 510006China departamento de ciencias Biológicas Facultad de Ciencias de la SaludUniversidad Técnica de ManabíPortoviejo 130105Ecuador Guangdong Provincial Key Laboratory of Environmental Pollution Control and Remediation Technology Guangzhou 510006China

Nitrogen removal is a critical process in water treatment plants(WIPs)and wastewater treatment plants(WWTPs).The recent discovery of a novel bacterial process,complete ammonia oxidation(comammox,CMX),has refuted a century-long perception of the two-step conversion of NH3to NO3-.Compared with canonical nitrifiers,CMX bacteria offer undeniable advantages,such as a high growth yield propensity and adaptability to nutrient-and growth-limiting conditions,which collectively draw attention to validate the aptness of CMX bacteria to wastewater treatment.As there has been no comprehensive review on the relevance of CMX bacteria for sustainable water and wastewater treatment,this review is intended to discuss the roles and applications of CMX in the removal of nitrogen and pollutants from water and wastewater.We took into account insights into the metabolic versatilities of CMX bacteria at the clade and subclade levels.We focused on the distribution of CMX bacteria in engineered systems,niche differentiation,co-occurrence and interactions with cano nical nitrifiers for a better understanding of CMX bacteria in terms of their ecophysiology.Conceptualized details on the reactor adaptability and stress response of CMX bacteria are provided.The potential of CMX bacteria to degrade micropollutants either directly or co-metabolically was evaluated,and these insights would be an indispensable advantage in opening the doors for wider applications of CMX bacteria in WWTPs.Finally,we summarized future directions of research that are imperative in improving the understanding of CMX biology.

关键词： Comammox bacteria Wastewater treatment Nitrogen removal Micropollutant degradation Reactor operation

Hydration status,body composition,and anxiety status in aeronautical military personnel from Spain:a crosss-ectional study

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Military Medical Research 2022年第2期9卷 184-192页

作者： Alejandra Carretero-Krug Nataliaúbeda Carlos Velasco Juan Medina-Font Trinidad Trujillo Laguna Gregorio Varela-Moreiras Ana Montero departamento ciencias Farmacéuticas y de la Salud Facultad de FarmaciaUniversidad San Pablo-CEUCEU UniversitiesUrbanización Montepríncipe28660 Boadilla del MonteSpain Centro de Instrucción de Medicina Aeroespacial Ejército del Aire28850 Torrejón de ArdozMadridSpain

Background: An adequate hydration status is critical to ensure efficiency during mental and physical activities.Our goal was to assess the hydration status of a Spanish group of aeronautical military men and to determine the association of hydration status with body composition and anxiety.Methods: A total of 188 men were evaluated through a validated hydration questionnaire, anthropometric and biochemical parameters, and an anxiety questionnaire. Based on these methods, the criteria of hydration were established.Results: Of the total sample, 81% met the hydration criteria(urine color = well hydrated, water balance ≥0 ml, and total water intake/weight ≥35 ml/kg), and 19% did not meet the hydration criteria(urine color = not sufficiently hydrated or dehydrated, water balance dex [(26.3±3.1) kg/m;vs.(25.2±2.8) kg/m;], body fat [(22.3±5.6)% vs.(18.3±6.5)%], urine specific gravity, and urine color. Using a logistic binary regression model, hydration status was related significantly with the percentage of body fat(P=0.004), but no relation was found with age, comorbidities, or medications. Furthermore, total water intake/weight was positively correlated with percentage of body water(r=0.357, P=0.000) and negatively with body fat(kg)(r=–0.427, P=0.000), percentage of body fat(r=–0.405, P=0.000), and waist/hip ratio(r=–0.223, P=0.002). Based on a linear regression model, total water intake/weight was related significantly with percentage of body fat(P=0.001) and percentage of body water content(P=0.035). No relation was found, however, with waist/hip ratio, age, comorbidities, or medications.Conclusions: These findings all suggest a relationship between hydration status and body composition but also set the bases for future studies that relat

关键词： Hydration status Military aeronautical personnel Body composition Anxiety status Water intake

Immunology of a unique biological structure:the Echinococcus laminated layer

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Protein & Cell 2023年第2期14卷 87-104页

作者： Álvaro Díaz Anabella ABarrios Leticia Grezzi Camila Mouhape Stephen J.Jenkins Judith E.Allen Cecilia Casaravilla Área Inmunología Departamento de Biociencias(Facultad de Química)and Cátedra de InmunologíaInstituto de Química Biológica(Facultad de Ciencias)Universidad de la RepúblicaMontevideoUruguay Centre for Inflammation Research Queen's Medical Research InstituteUniversity of EdinburghEdinburghEH89JUUK Lydia Becker Institute of Immunology and Inflammation School of Biological SciencesUniversity of ManchesterManchester Academic Health Sciences CentreManchesterM139NQUK

The larval stages of the cestode parasites belonging to the genus Echinococcus grow within internal organs of humans and a range of animal species.The resulting diseases,collectively termed echinococcoses,include major neglected tropical diseases of humans and livestock.Echinococcus larvae are outwardly protected by the laminated layer(LL),an acellular structure that is unique to this genus.The LL is based on a fibrillar meshwork made up of mucins,which are decorated by galactose-rich O-glycans.In addition,in the species cluster termed E.granulosus sensu lato,the LL features nano-deposits of the calcium salt of myo-inositol hexakisphosphate(Insp_(6)).The main purpose of our article is to update the immunobiology of the LL.Major recent advances in this area are(i)the demonstration of LL“debris”at the infection site and draining lymph nodes,(ii)the characterization of the decoy activity of calcium Inp6 with respect to complement,(iii)the evidence that the LL mucin carbohydrates interact specifically with a lectin receptor expressed in Kupffer cells(Clec4F),and(iv)the characterization of what appear to be receptor-independent effects of LL particles on dendritic cells and macrophages.Much information is missing on the immunology of this intriguing structure:we discuss gaps in knowledge and propose possible avenues for research.

关键词： mucin complement Echinococcus macrophage dendritic cell Clec4F

Hepatitis C: Problems to extinction and residual hepatic and extrahepatic lesions after sustained virological response

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World Journal of Hepatology 2022年第1期14卷 62-79页

作者： Sara Cuesta-Sancho Mercedes Márquez-Coello Francisco Illanes-Álvarez denisse Márquez-Ruiz Ana Arizcorreta Fátima Galán-Sánchez Natalia Montiel Manuel Rodriguez-Iglesias José-Antonio Girón-González Medicina Interna Hospital Universitario Puerta del MarFacultad de MedicinaUniversidad de CádizInstituto para la Investigación e Innovación en Ciencias Biomédicas de Cádiz(INiBICA)Cádiz 11009Spain Microbiología Hospital Universitario Puerta del MarFacultad de MedicinaUniversidad de CádizInstituto para la Investigación e Innovación en Ciencias Biomédicas de Cádiz(INiBICA)Cádiz 11009Spain

Loss of follow-up or reinfections hinder the expectations of hepatitis C eradicationdespite the existence of highly effective treatments. Moreover, the elimination ofthe infection does not imply the reversion of those chronic alterations derivedfrom the previous infection by hepatitis C virus (HCV). This review analyzes therisk factors associated with loss to follow-up in diagnosis or treatment, and thepossibility of reinfection. Likewise, it assesses the residual alterations induced bychronic HCV infection considering the liver alterations (inflammation, fibrosis,risk of decompensation, hepatocellular carcinoma, liver transplantation) and, onthe other hand, the comorbidities and extrahepatic manifestations (cryoglobulinemia,non-Hodgkin lymphoma, peripheral insulin resistance, and lipid, boneand cognitive alterations). Peculiarities present in subjects coinfected with humanimmunodeficiency virus are analyzed in each section.

关键词： Hepatitis C virus Sustained virological response Direct antiviral agents Human immunodeficiency virus Cirrhosis decompensation Hepatocarcinoma Extrahepatic complications

Existence and Multiplicity Results for a Class of Nonlinear Schrödinger Equations with Magnetic Potential Involving Sign-Changing Nonlinearity

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Analysis in Theory and Applications 2022年第2期38卷 148-177页

作者： Francisco Odair de Paiva Sandra Machado de Souza Lima Olimpio Hiroshi Miyagaki departamento de Matematica UFSCarSao CarlosSP13560-970 Brazil departamento de ciencias Exatas Biologicas e da TerraINFES-UFFSanto Antonio de Padua-RJ28470-000Brazil

In this work we consider the following class of elliptic problems{−Δ_(A)u+u=a(x)|u|^(q−2)u+b(x)|u|^(p−2)u in R^(N),u∈H_(A)^(1)(R^(N)),(P)with 2 详细信息

In this work we consider the following class of elliptic problems{−Δ_(A)u+u=a(x)|u|^(q−2)u+b(x)|u|^(p−2)u in R^(N),u∈H_(A)^(1)(R^(N)),(P)with 2

关键词： Magnetic potential sign-changing weight functions Nehari manifold Fibering map

THEMIS,the new kid on the block for T-cell development

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Cellular & Molecular Immunology 2017年第9期14卷 721-723页

作者： Janyra A Espinoza Evelyn L Jara Alexis M Kalergis facultad de ciencias biologicas Departamento de Genética Molecular y MicrobiologíaMillennium Institute on Immunology and ImmunotherapyPontificia Universidad Catolica de ChileSantiagoChile facultad de Medicina Escuela de MedicinaDepartamento de EndocrinologíaPontificia Universidad Catolica de ChileSantiagoChile

Understanding T-cell development is a major goal of the immunology field and is crucial for the elucidation of the mechanisms behind self-tolerance and the occurrence of autoimmune disorders.T-cell development is a co... 详细信息

关键词： MIS arise development

Arylated analogues of cypronazole: fungicidal effect and activity on human fibroblasts. Docking analysis and molecular dynamics simulations

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Natural Products and Bioprospecting 2022年第1期12卷 107-120页

作者： Natividad Herrera Cano Sebastian A.Andujar Cristina Theoduloz Daniel A.Wunderlin Ana N.Santiago Guillermo Schmeda-Hirschmann Ricardo D.Enriz Gabriela E.Feresin Instituto de Biotecnología Facultad de IngenieríaUniversidad Nacional de San JuanCONICET-CCT San JuanAv.Libertador General San Martín1109(O)5400 San JuanArgentina facultad de Química Bioquímica y Farmacia-IMIBIO-SL(CONICET)Universidad Nacional de San LuisChacabuco 9155700 San LuisArgentina Laboratorio de Cultivo Celular Facultad de Ciencias de la SaludUniversidad de TalcaCasilla 7473460000 TalcaChile ICYTAC CONICET and Universidad Nacional de CórdobaFacultad de Ciencias QuímicasDepartamentoQuímica OrgánicaCiudad UniversitariaBv.Juan Filloy s/n5000 CórdobaArgentina INFIQC CONICET and Universidad Nacional de CórdobaFacultad de Ciencias QuímicasDepartamento Química OrgánicaCiudad UniversitariaHaya de La Torre S/N5000 CórdobaArgentina Laboratorio de Química de Productos Naturales Instituto de Química de Recursos NaturalesUniversidad de TalcaCasilla 7473460000 TalcaChile

Triadimefon(TDM)and cyproconazole(CPZ)are two triazoles widely used as fungicides.Several azoles were synthe-sised starting from commercial TDM and CPZ.The compounds were evaluated against phytopathogenic filamentous fungi,including Aspergillus fumigatus(AF),A.niger(AN),A.ustus(AU),A.japonicus(AJ),A.terreus(AT),Fusarium oxyspo-rum and Botrytis cinerea isolated from grapevine in the province of San Juan,Argentina.Three of the synthesised compounds(1-(Biphenyl-4-yloxy)-3,3-dimethyl-1-(1H-1,2,4-triazol-1-yl)butan-2-one,1;2-(Biphenyl-4-yl)-3-cyclopropyl-1-(1H-1,2,4-triazol-1-yl)butan-2-ol,3;3-Cyclopropyl-2-(4’-fluorobiphenyl-4-yl)-1-(1H-1,2,4-triazol1-yl)butan-2-ol,4)presented remarkable in vitro fungicidal properties,with better effects than TDM and CPZ on some of the target fungi.Cytotoxicity was assessed using human lung fibroblasts MRC5.derivative 1,with IC50 values of 389.4μM,was less toxic towards MRC-5 human lung fibroblasts than commercial TDM(248.5μM)and CPZ(267.4μM).Docking analysis and molecular dynamics simulations suggest that the compounds present the same interaction in the binding pocket of the CYP51B enzyme and with the same amino acids as CPZ.The derivatives investigated could be considered broad-spectrum but with some selectivity towards imperfect fungi.

关键词： Azoles Antifungal cytotoxicity Conformational and electronic analysis

An overview of resistance to chemotherapy in osteosarcoma and future perspectives

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Cancer Drug Resistance 2022年第3期5卷 762-793页

作者： Dorian Yarih Garcia-Ortega Sara Aileen Cabrera-Nieto Haydee Sarai Caro-Sanchez Marlid Cruz-Ramos Cirugia Oncologica Instituto Nacional de Cancerologia(INCAN)Ciudad de Mexico 14080Mexico Posgrado en ciencias Medicas Facultad de Ciencias de la SaludUniversidad AnahuacCiudad de Mexico 52786Mexico departamento de Patologi Instituto Nacional de Cancerologia(INCAN)Ciudad de México 14080Mexico Catedras de Consejo Nacional de Ciencia y Tecnologia(CONACYT) Instituto Nacional de CancerologiaCiudad de Mexico 14080Mexico

Osteosarcoma(OS)is the most common type of bone sarcoma.despite the availability of multimodal treatment with surgery and chemotherapy,the clinical results remain unsatisfactory.The main reason for the poor outcomes in patients with OS is the development of resistance to methotrexate,cisplatin,doxorubicin,and ifosfamide.Molecular and cellular mechanisms associated with resistance to chemotherapy include DNA repair and cell-cycle alterations,enhanced drug efflux,increased detoxification,resistance to apoptosis,autophagy,tumor extracellular matrix,and angiogenesis.This versatility of cells to generate chemoresistance has motivated the use of anti-angiogenic therapy based on tyrosine kinase inhibitors.This approach has shown that other therapies,along with standard chemotherapy,can improve responses to therapy in patients with OS.Moreover,microRNAs may act as predictors of drug resistance in OS.This review provides insight into the molecular and cellular mechanisms involved in the development of resistance during the treatment of OS and discusses promising novel therapies(e.g.,afatinib and palbociclib)for overcoming resistance to chemotherapy in OS.

关键词： Osteosarcoma therapy resistance tyrosine kinase inhibitor tumoral extracellular microenvironment cell cycle