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Phenotypic Variability in a Family with Aicardi-Goutières Syndrome Due to the Common A177T RNASEH2B Mutation

Case Reports in Clinical Medicine 2014年第3期3卷 153-156页

作者： Victoria Tüngler Franziska Schmidt Steve Hieronimus claudio reyes-velasco Min Ae Lee-Kirsch Department of Pediatrics Medizinische Fakultat Carl Gustav CarusTechnische Universitat DresdenDresdenGermany General Practice RatingenGermany

Aicardi-Goutières syndrome (AGS) is a rare inflammatory encephalopathy mimicking in utero acquired viral infection. Cardinal findings comprise leukodystrophy, basal ganglia calcifications and cerebral atrophy along with cerebrospinal fluid lymphocytosis and elevated interferon-α. In the majority of cases AGS is inherited as an autosomal recessive trait and caused by mutations in six genes including RNASEH2A, RNASEH2B, RNASEH2C, TREX1, SAMHD1 and ADAR1, all of which encode enzymes acting on nucleic acid species. Most patients present with first neurological signs in early infancy and experience severe global developmental delay. Here, we report on the unusual divergent phenotype of two siblings who both carry the most frequent AGS causing p.A177T (c.529G > A) RNASEH2B mutation in the homozygous state. While one sibling showed a typical AGS presentation with early onset and severe statomotor and mental impairment, the older sibling was intellectually completely normal. She was only diagnosed because of mild spasticity of the legs and serological signs of autoimmunity. These findings highlight the phenotypic variability of AGS and suggest that AGS may be underdiagnosed among children with mild cerebral palsy.

关键词： Aicardi-Goutières Syndrome RNASEH2B Interferon-α Autoimmunity

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Oncogenicity of viral hepatitis B and C in the initiation of hepatic cancer stem cells

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Hepatoma Research 2019年第1期5卷 17-25页

作者： Caecilia H.C.Sukowati Peter A.C.reyes Gianluca Tell claudio Tiribelli Fondazione Italiana Fegato Trieste 34149Italy Dipartimento di Area Medica University of UdineUdine 33100Italy Hepatology Society of the Philippines Loyola Heights Quezon City 1108Philippines

Chronic infection of hepatitis B virus(HBV)or/and hepatitis C virus(HCV)is one of major risk factors in the development of the hepatocellular *** studies had shown the capacity of viral proteins in inducing the presence of the population of so-called the cancer stem cells(CSC).The integration of HBV S and X gene in the host genome indicates its direct *** addition,the presence HBV and HCV proteins were shown to modulate intracellular molecular pathways and epigenetic *** review summarizes current literature regarding direct oncogenic properties of HBV and HCV in the initiation of CSC both in in vitro and in vivo studies.

关键词： Cancer stem cells hepatocellular carcinoma hepatitis B virus hepatitis C virus

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Biogas Estimation as a Basis for the Implementation of an Intermunicipal Landfill: Michoacan, Mexico

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Journal of Environmental Protection 2014年第7期5卷 577-582页

作者： Iván Vera-Romero José Martínez reyes claudio C. Espíritu-Barragán Melitón Estrada-Jaramillo Agustina Ortiz-Soriano Lenin E. Medina-Orozco Trajectory of Educational Innovation University of the Cienega of Michoacan State Sahuayo Mexico Trajectory of Energy Engineering University of the Cienega of Michoacan State Sahuayo Mexico Trajectory of Food Genomics University of the Cienega of Michoacan State Sahuayo Mexico

Municipal solid waste (MSW) generated in the municipalities of Sahuayo, Jiquilpan and Venustiano Carranza in Michoacan, is deposited in open dumps becoming hot spots for health and the environment. The total population in the three municipalities is 130,497 habitants, with a per capita waste production estimated in 0.718 kg·hab-1·day-1 (34,203 t·yr-1). The aim of this study was to estimate the formation of biogas for power generation from the decomposition of waste. The model used was the mexican model of biogas (version 2.0), assuming a useful life of 21 years of the landfill at a cost of 0.19 USD per kWh, the average CFE rate for municipal public lighting. Four possible scenarios were evaluated: one optimal recovering 68% of the biogas (10,095 tonnes of methane in 20 years), having a savings concept in electricity of 8,015,252 USD;in the second case (optimistic intermediate), it is assumed that it obtains 61% of biogas (9046 tonnes of methane) with benefits in power generation for 7,159,679 USD;the third case (pessimistic intermediate) estimating 48% of biogas recovered, being captured 7118 tonnes of methane with profits of 5,633,846 USD into electrical energy, the latter case (pessimistic), assuming 40% of biogas recovered, transforming 4672 tonnes of methane resultant in an economic benefit of 3,697,324 USD for electricity generation. The results justify the investment of the landfill and it is a measure to mitigate climate change and disease prevention.

关键词： Municipal Street Lighting Alternative Energy Public Health

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Dendritic cell deficiencies persist seven months after SARS-CoV-2 infection

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Cellular & Molecular Immunology 2021年第9期18卷 2128-2139页

作者： Alberto Pérez-Gómez Joana Vitallé Carmen Gasca-Capote Alicia Gutierrez-Valencia María Trujillo-Rodriguez Ana Serna-Gallego Esperanza Muñoz-Muela María de los reyes Jiménez-Leon Mohamed Rafii-El-Idrissi Benhnia Inmaculada Rivas-Jeremias Cesar Sotomayor Cristina Roca-Oporto Nuria Espinosa Carmen Infante-Domínguez Juan Carlos Crespo-Rivas Alberto Fernández-Villar Alexandre Pérez-González Luis Fernando López-Cortés Eva Poveda Ezequiel Ruiz-Mateos JoséMiguel Cisneros Sonsoles Salto-Alejandre Judith Berastegui-Cabrera Pedro Camacho-Martínez Carmen Infante-Domínguez Marta Carretero-Ledesma Juan Carlos Crespo-Rivas Eduardo Márquez JoséManuel Lomas claudio Bueno Rosario Amaya JoséAntonio Lepe Jerónimo Pachón Elisa Cordero Javier Sánchez-Céspedes Manuela Aguilar-Guisado Almudena Aguilera Clara Aguilera Teresa Aldabo-Pallas Verónica Alfaro-Lara Cristina Amodeo Javier Ampuero María Dolores Avilés Maribel Asensio Bosco Barón-Franco Lydia Barrera-Pulido Rafael Bellido-Alba Máximo Bernabeu-Wittel Candela Caballero-Eraso Macarena Cabrera Enrique Calderón Jesús Carbajal-Guerrero Manuela Cid-Cumplido Yael Corcia-Palomo Juan Delgado Antonio Domínguez-Petit Alejandro Deniz Reginal Dusseck-Brutus Ana Escoresca-Ortega Fátima Espinosa Nuria Espinosa Michelle Espinoza Carmen Ferrándiz-Millón Marta Ferrer Teresa Ferrer Ignacio Gallego-Texeira Rosa Gámez-Mancera Emilio García Horacio García-Delgado Manuel García-Gutiérrez María Luisa Gascón-Castillo Aurora González-Estrada Demetrio González Carmen Gómez-González Rocío González-León Carmen Grande-Cabrerizo Sonia Gutiérrez Carlos Hernández-Quiles Inmaculada Concepción Herrera-Melero Marta Herrero-Romero Luis Jara Carlos Jiménez-Juan Silvia Jiménez-Jorge Mercedes Jiménez-Sánchez Julia Lanseros-Tenllado Carmina López Isabel López Álvaro López-Barrios Luis F.López-Cortés Rafael Luque-Márquez Daniel Macías-García Guillermo Martín-Gutiérrez Luis Martín-Villén JoséMolina Aurora Morillo María Dolores Navarro-Amuedo Dolores Nieto-Martín Francisco Ortega María Paniagua-García Amelia Peña-Rodríguez E Clinical Unit of Infectious Diseases Microbiology and Preventive MedicineInstitute of Biomedicine of Seville(IBiS)Virgen del Rocío University HospitalCSICUniversity of SevilleSevilleSpain Department of Medical Biochemistry Molecular Biologyand ImmunologySchool of MedicineUniversity of SevilleSevilleSpain Pneumology Service Galicia Sur Health Research Instituto(IIS Galicia Sur)SERGAS-UVigoVigoSpain Infectious Diseases Unit Department of Internal MedicineComplexo HospitalarioUniversitario de VigoIIS Galicia SurSERGAS-UVigoVigoSpain Group of Virology and Pathogenesis Galicia Sur Health Research Institute(IIS Galicia Sur)-Complexo Hospitalario Universitario de VigoSERGAS-UVigoVigoSpain Unit of Infectious Diseases Microbiologyand Preventive MedicineVirgen del Rocío University HospitalSevilleSpain Institute of Biomedicine of Seville(IBiS) Virgen del Rocío University Hospital/CSIC/University of SevilleSevilleSpain Medico-Surgical Unit of Respiratory Diseases Virgen del Rocío University HospitalSevilleSpain Unit of Emergencies Virgen del Rocío University HospitalSevilleSpain Intensive Care Unit Virgen del Rocío University HospitalSevilleSpain Department of Medicine University of SevilleSevilleSpain Cardiology and Cardiovascular Surgery Unit Virgen del Rocío University HospitalSevilleSpain Rheumatology Unit Virgen del Rocío University HospitalSevilleSpain Internal Medicine Unit Virgen del Rocío University HospitalSevilleSpain Digestive and Hepatobiliary Unit Virgen del Rocío University HospitalSevilleSpain Neurology and Clinical Neurophysiology Unit Virgen del Rocío University HospitalSevilleSpain Endocrinology and Nutrition Unit Virgen del Rocío University HospitalSevilleSpain Urology and Nephrology Unit Virgen del Rocío University HospitalSevilleSpain Unit of Clinical Investigation and Clinical Trials Virgen del Rocío University HospitalSevilleSpain

Severe Acute Respiratory Syndrome Coronavirus(SARS-CoV)-2 infection induces an exacerbated inflammation driven by innate immunity *** cells(DCs)play a key role in the defense against viral infections,for instance plasmacytoid DCs(pDCs),have the capacity to produce vast amounts of interferon-alpha(IFN-α).In COVID-19 there is a deficit in DC numbers and IFN-αproduction,which has been associated with disease *** this work,we described that in addition to the DC deficiency,several DC activation and homing markers were altered in acute COVID-19 patients,which were associated with multiple inflammatory ***,previously hospitalized and nonhospitalized patients remained with decreased numbers of CD1c+myeloid DCs and pDCs seven months after SARS-CoV-2 ***,the expression of DC markers such as CD86 and CD4 were only restored in previously nonhospitalized patients,while no restoration of integrinβ7 and indoleamine 2,3-dyoxigenase(IDO)levels were *** findings contribute to a better understanding of the immunological sequelae of COVID-19.

关键词： SARS-CoV-2 COVID-19 Dendritic cell Long-COVID

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