Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

Regulation of leukocyte tricarboxylic acid cycle in drug-naïve bipolar disorder

Several lines of evidence suggest a role for mitochondrial dysfunction in the pathophysiology of bipolar disorder (BD). The tricarboxylic acid cycle (TCA cycle) is fundamental for mitochondrial energy production and produces substrates used in oxidative phosphorylation by the mitochondrial electron transport chain. The activity of the key TCA cycle enzymes citrate synthase, malate dehydrogenase, and succinate dehydrogenase has never been evaluated in BD. In the present study, these enzymes were assayed from leukocytes of drug-naïve BD patients in a major depressive episode (n = 18) and compared to 24 age-matched healthy controls. Drug-naïve BD patients did not show differences in activities of citrate synthase (p = 0.79), malate dehydrogenase (p = 0.17), and succinate dehydrogenase (p = 0.35) compared with healthy controls. No correlation between any TCA cycle enzyme activity and severity of depressive symptoms was observed. Overall, these data suggest that the activities of the TCA cycle enzymes are not altered in major depressive episodes of recent-onset BD, which may support the concept of illness staging and neuroprogression in BD

First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes

Hyper-IgM (HIGM) syndrome is a heterogeneous group of disorders characterized by normal or elevated serum IgM levels associated with absent or decreased IgG, IgA and IgE. Here we summarize data from the HIGM syndrome Registry of the Latin American Society for Immunodeficiencies (LASID). of the 58 patients from 51 families reported to the registry with the clinical phenotype of HIGM syndrome, molecular defects were identified in 37 patients thus far. We retrospectively analyzed the clinical, immunological and molecular data from these 37 patients. CD40 ligand (CD40L) deficiency was found in 35 patients from 25 families and activation-induced cytidine deaminase (AID) deficiency in 2 unrelated patients. Five previously unreported mutations were identified in the CD40L gene (CD40LG). Respiratory tract infections, mainly pneumonia, were the most frequent clinical manifestation. Previously undescribed fungal and opportunistic infections were observed in CD40L-deficient patients but not in the two patients with AID deficiency. These include the first cases of pneumonia caused by Mycoplasma pneumoniae, Serratia marcescens or Aspergillus sp. and diarrhea caused by Microsporidium sp. or Isospora belli. Except for four CD40L-deficient patients who died from complications of presumptive central nervous system infections or sepsis, all patients reported in this study are alive. Four CD40L-deficient patients underwent successful bone marrow transplantation. This report characterizes the clinical and genetic spectrum of HIGM syndrome in Latin America and expands the understanding of the genotype and phenotype of this syndrome in tropical areas.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Jeffrey Modell FoundationLatin American Advisory Board on Primary Immunodeficiencies initiativeUniv São Paulo, Inst Biomed Sci, Dept Immunol, BR-05508000 São Paulo, BrazilCtr Invest & Estudios, Dept Biomed Mol, Mexico City, DF, MexicoDr Ricardo Gutierrez Childrens Hosp, Buenos Aires, DF, ArgentinaHosp Nacl Ninos Dr Carlos Saenz Herrera, San Jose, Costa RicaPediat Allergy & Immunol Clin, Caxias Do Sul, RS, BrazilAlbert Sabin Hosp, Fortaleza, Ceara, BrazilHosp Base Dist Fed, Brasilia, DF, BrazilIntegrated Ctr Pediat Specialties, Curitiba, PR, BrazilHosp Ninos VJ Vilela, Rosario, ArgentinaHosp Ninos Luis Calvo Mackenna, Santiago, ChileUniv Fed Parana, Dept Pediat, BR-80060000 Curitiba, Parana, BrazilUniv Estadual Campinas, Sch Med, Dept Pediat, Campinas, SP, BrazilConceicao Childrens Hosp, Dept Pediat, Div Allergy & Immunol, Porto Alegre, RS, BrazilChildrens Hosp Lucidio Portela, Teresina, PI, BrazilPontificia Univ Catolica Chile, Div Pediat, Santiago, ChileUniv Estadual Campinas, Sch Med, Dept Med, Campinas, SP, BrazilUniv São Paulo, Ribeirao Preto Med Sch, BR-14049 Ribeirao Preto, SP, BrazilHosp Nacl Edgardo Rebagliati Martins Alergia & In, Lima, PeruUniv Fed Rio de Janeiro, Sch Med, Dept Pediat, Rio de Janeiro, BrazilInst Nacl Pediat, Unidad Invest Inmunodeficiencias, Mexico City, DF, MexicoIMSS, Unidad Med Alta Especialidad 25, Monterrey, Nuevo Leon, MexicoClin Montefiori, Unidad Inmunol, Lima, PeruUNAL, Univ Hosp, Monterrey, Nuevo Leon, MexicoFac Med ABC, Santo Andre, SP, BrazilChildrens Hosp, Dept Pediat, New Orleans, LA USAHop Necker Enfants Malad, INSERM, Unite U768, Paris, FranceUniv Washington, Sch Med, Dept Pediat, Seattle, WA 98195 USASeattle Childrens Res Inst, Seattle, WA USAUniversidade Federal de São Paulo, Dept Pediat, Div Allergy Immunol & Rheumatol, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Pediat, Div Allergy Immunol & Rheumatol, São Paulo, BrazilFAPESP: 2012/50515-4FAPESP: 2006/57643-7FAPESP: 2012/51745-3Web of Scienc

The Brazilian Soil Spectral Library (BSSL): A general view, application and challenges

Made available in DSpace on 2019-10-06T16:42:11Z (GMT). No. of bitstreams: 0 Previous issue date: 2019-11-15Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)The present study was developed in a joint partnership with the Brazilian pedometrics community to standardize and evaluate spectra within the 350–2500 nm range of Brazilian soils. The Brazilian Soil Spectral Library (BSSL) began in 1995, creating a protocol to gather soil samples from different locations in Brazil. The BSSL reached 39,284 soil samples from 65 contributors representing 41 institutions from all 26 states. Through the BSSL spectra database, it was possible to estimate important soil attributes, such as clay, sand, soil organic carbon, cation exchange capacity, pH and base saturation, resulting in differences among the multi-scale models taking Brazil (overall), regional and state scale. In general, spectral descriptive and quantitative behavior indicated important relationship with physical, chemical and mineralogical properties. Statistical analyses showed that six basic patterns of spectral signatures represent the Brazilian soils types and that environmental conditions explain the differences in spectra. This study demonstrates that spectroscopy analyses along with the establishment of soil spectral libraries are a powerful technique for providing information on a national and regional levels. We also developed an interactive online platform showing soil sample locations and their contributors. As soil spectroscopy is considered a fast, simple, accurate and nondestructive analytical procedure, its application may be integrated with wet analysis as an alternative to support the sustainable management of soils.Department of Soil Science Luiz de Queiroz College of Agriculture (ESALQ) University of São Paulo (USP), Ave. Pádua Dias 11, Cx. Postal 9Department of Soil Federal University of Santa Maria, Av. Roraima 1000Geographical Sciences Department Federal University of Pernambuco, Av. Ac. Hélio Ramos, s/nDepartment of Agronomy State University of Maringá, Av. Colombo 5790Department of Agriculture Biodiversity and Forestry Federal University of Santa Catarina, Rodovia Ulysses Gaboardi 3000 - Km 3Federal Rural University of Amazon, Ave. Presidente Tancredo Neves 2501Faculty of Agronomy and Veterinary Medicine University of BrasíliaEMBRAPA - Solos, R. Antônio Falcão, 402, Boa ViagemCenter of Nuclear Energy in Agriculture (CENA) USP, Av. Centenário 303CDRS/Secretary of Agriculture of São Paulo State, R. Campos Salles 507Department of Soils Federal University of Viçosa, Ave. Peter Henry Rolfs s/nEMBRAPA – Informática Agropecuária, Ave. André Tosello, 209Department of Nuclear Energy Federal University of Pernambuco, Av. Prof. Luis Freire 1000Department of Geography Federal University of Rio Grande do Norte, R. Joaquim Gregório s/nAgronomic Institute of Campinas (IAC), Ave. Barão de Itapura 1481Institute of Agricultural Sciences Federal Rural University of Amazônia, Ave. Presidente Tancredo Neves 2501, 66.077-830Department of Soil Science Federal University of LavrasFederal University of Mato Grosso, Cuiabá, Av. Fernando Corrêa da Costa 2367Department of Soils Federal Rural University of Rio de Janeiro, Rodovia BR 465, Km 07 s/nSoil and Water Sciences Department University of Florida, 2181 McCarty Hallr, PO Box 110290EMBRAPA - Solos, R. Jardim Botânico, 1024Department of Soils and Fertilizers School of Agricultural and Veterinary Studies São Paulo State University (FCAV-UNESP), Via de Acesso Prof. Paulo Donato Castellane s/nFederal University of Sergipe, Av. Marechal Rondon s/nGraduate Program in Earth Sciences (Geochemistry) Department of Geochemistry Federal Fluminense University, Outeiro São João Batista, s/nFederal Institute of the Southeast of Minas Gerais, R. Monsenhor José Augusto 204Federal University of Rio Grande do Norte, R. Joaquim Gregório s/nFederal University of PiauíEMBRAPA Milho e Sorgo, Rod MG 424 Km 45Institute of Agricultural Sciences Federal University of Jequitinhonha e Mucuri Valleys, Ave. Ver. João Narciso 1380Department of Biosystems Engineering ESALQ USP, Ave. Pádua Dias 11, Cx. Postal 9Federal University of Acre, Rodovia BR 364 Km 04Federal University of Amazonas, Av. General Rodrigo O. J. Ramos 1200EMBRAPA Clima Temperado, BR-392, km 78Department of Agronomy Federal Rural University of Pernambuco, R. Manuel de Medeiros s/nEMBRAPA Cocais, Quadra 11, Av. São Luís Rei de França 4Paraense Emílio Goeldi Museum, Av. Gov. Magalhães Barata 376Exata Laboratory, Rua Silvestre Carvalho Q 11Federal University of Rondônia, BR 364, Km 9.5Nacional Institute for Amazonian Research, Ave. André Araújo 2936Department of Forestry Sciences ESALQ-USP, Ave. Pádua Dias 11, Cx. Postal 9Department of Soils and Fertilizers School of Agricultural and Veterinary Studies São Paulo State University (FCAV-UNESP), Via de Acesso Prof. Paulo Donato Castellane s/nFAPESP: 2014/22262-0FAPESP: 2016/26176-6FAPESP: 2017/03207-