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1. Association between APOE-ε4 allele and cognitive function is mediated by Alzheimers disease pathology: a population-based autopsy study in an admixed sample.

Author

Naslavsky, Michel, Zatz, Mayana, Nitrini, Ricardo, Jacob-Filho, Wilson, Suemoto, Claudia, Paradela, Regina, Justo, Alberto, Paes, Vítor, Leite, Renata, Pasqualucci, Carlos, and Grinberg, Lea

Subjects
Apolipoprotein E, Cognition, Dementia, Mediation analysis, Neuritic plaques, Neurofibrillary tangles, Aged, Aged, 80 and over, Female, Humans, Male, Middle Aged, Alleles, Alzheimer Disease, Apolipoprotein E4, Apolipoproteins E, Arteriosclerosis, Autopsy, Cerebral Amyloid Angiopathy, Cognition, DNA-Binding Proteins, Genotype, Lewy Body Disease, Stroke, Lacunar
Abstract

BACKGROUND: Apolipoprotein E ε4 allele (APOE-ε4) is the main genetic risk factor for late-onset Alzheimers disease (AD) and may impact cognitive function also via other neuropathological lesions. However, there is limited evidence available from diverse populations, as APOE associations with dementia seem to differ by race. Therefore, we aimed to evaluate the pathways linking APOE-ε4 to cognitive abilities through AD and non-AD neuropathology in an autopsy study with an admixed sample. METHODS: Neuropathological lesions were evaluated following international criteria using immunohistochemistry. Participants were classified into APOE-ε4 carriers (at least one ε4 allele) and non-carriers. Cognitive abilities were evaluated by the Clinical Dementia Rating Scale sum of boxes. Mediation analyses were conducted to assess the indirect association of APOE-ε4 with cognition through AD-pathology, lacunar infarcts, hyaline arteriosclerosis, cerebral amyloid angiopathy (CAA), Lewy body disease (LBD), and TAR DNA-binding protein 43 (TDP-43). RESULTS: We included 648 participants (mean age 75 ± 12 years old, mean education 4.4 ± 3.7 years, 52% women, 69% White, and 28% APOE-ε4 carriers). The association between APOE-ε4 and cognitive abilities was mediated by neurofibrillary tangles (β = 0.88, 95% CI = 0.45; 1.38, p

Published
2023

2. Genetic variation in NOTCH1 is associated with overweight and obesity in Brazilian elderly

Author

Silva Barcelos, Estevão Carlos, Naslavsky, Michel Satya, Fernandes, Izadora Silveira, Scliar, Marilia Oliveira, Yamamoto, Guilherme Lopes, Wang, Jaqueline Yu Ting, Bride, Laís, de Sousa, Valdemir Pereira, Pimassoni, Lucia Helena Sagrillo, Sportoletti, Paolo, de Paula, Flavia, von Zeidler, Sandra Ventorin, Duarte, Yeda Aparecida Oliveira, Passos-Bueno, Maria Rita, Zatz, Mayana, and Errera, Flávia Imbroisi Valle

Published
2024
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3. Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Author

Matuozzo, Daniela, Talouarn, Estelle, Marchal, Astrid, Zhang, Peng, Manry, Jeremy, Seeleuthner, Yoann, Zhang, Yu, Bolze, Alexandre, Chaldebas, Matthieu, Milisavljevic, Baptiste, Gervais, Adrian, Bastard, Paul, Asano, Takaki, Bizien, Lucy, Barzaghi, Federica, Abolhassani, Hassan, Tayoun, Ahmad Abou, Aiuti, Alessandro, Darazam, Ilad Alavi, Allende, Luis M., Alonso-Arias, Rebeca, Arias, Andrés Augusto, Aytekin, Gokhan, Bergman, Peter, Bondesan, Simone, Bryceson, Yenan T., Bustos, Ingrid G., Cabrera-Marante, Oscar, Carcel, Sheila, Carrera, Paola, Casari, Giorgio, Chaïbi, Khalil, Colobran, Roger, Condino-Neto, Antonio, Covill, Laura E., Delmonte, Ottavia M., Zein, Loubna El, Flores, Carlos, Gregersen, Peter K., Gut, Marta, Haerynck, Filomeen, Halwani, Rabih, Hancerli, Selda, Hammarström, Lennart, Hatipoğlu, Nevin, Karbuz, Adem, Keles, Sevgi, Kyheng, Christèle, Leon-Lopez, Rafael, Franco, Jose Luis, Mansouri, Davood, Martinez-Picado, Javier, Akcan, Ozge Metin, Migeotte, Isabelle, Morange, Pierre-Emmanuel, Morelle, Guillaume, Martin-Nalda, Andrea, Novelli, Giuseppe, Novelli, Antonio, Ozcelik, Tayfun, Palabiyik, Figen, Pan-Hammarström, Qiang, de Diego, Rebeca Pérez, Planas-Serra, Laura, Pleguezuelo, Daniel E., Prando, Carolina, Pujol, Aurora, Reyes, Luis Felipe, Rivière, Jacques G., Rodriguez-Gallego, Carlos, Rojas, Julian, Rovere-Querini, Patrizia, Schlüter, Agatha, Shahrooei, Mohammad, Sobh, Ali, Soler-Palacin, Pere, Tandjaoui-Lambiotte, Yacine, Tipu, Imran, Tresoldi, Cristina, Troya, Jesus, van de Beek, Diederik, Zatz, Mayana, Zawadzki, Pawel, Al-Muhsen, Saleh Zaid, Alosaimi, Mohammed Faraj, Alsohime, Fahad M., Baris-Feldman, Hagit, Butte, Manish J., Constantinescu, Stefan N., Cooper, Megan A., Dalgard, Clifton L., Fellay, Jacques, Heath, James R., Lau, Yu-Lung, Lifton, Richard P., Maniatis, Tom, Mogensen, Trine H., von Bernuth, Horst, Lermine, Alban, Vidaud, Michel, Boland, Anne, Deleuze, Jean-François, Nussbaum, Robert, Kahn-Kirby, Amanda, Mentre, France, Tubiana, Sarah, Gorochov, Guy, Tubach, Florence, Hausfater, Pierre, Meyts, Isabelle, Zhang, Shen-Ying, Puel, Anne, Notarangelo, Luigi D., Boisson-Dupuis, Stephanie, Su, Helen C., Boisson, Bertrand, Jouanguy, Emmanuelle, Casanova, Jean-Laurent, Zhang, Qian, Abel, Laurent, and Cobat, Aurélie

Published
2024
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4. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Author

Matuozzo, Daniela, Talouarn, Estelle, Marchal, Astrid, Zhang, Peng, Manry, Jeremy, Seeleuthner, Yoann, Zhang, Yu, Bolze, Alexandre, Chaldebas, Matthieu, Milisavljevic, Baptiste, Gervais, Adrian, Bastard, Paul, Asano, Takaki, Bizien, Lucy, Barzaghi, Federica, Abolhassani, Hassan, Abou Tayoun, Ahmad, Aiuti, Alessandro, Alavi Darazam, Ilad, Allende, Luis M, Alonso-Arias, Rebeca, Arias, Andrés Augusto, Aytekin, Gokhan, Bergman, Peter, Bondesan, Simone, Bryceson, Yenan T, Bustos, Ingrid G, Cabrera-Marante, Oscar, Carcel, Sheila, Carrera, Paola, Casari, Giorgio, Chaïbi, Khalil, Colobran, Roger, Condino-Neto, Antonio, Covill, Laura E, Delmonte, Ottavia M, El Zein, Loubna, Flores, Carlos, Gregersen, Peter K, Gut, Marta, Haerynck, Filomeen, Halwani, Rabih, Hancerli, Selda, Hammarström, Lennart, Hatipoğlu, Nevin, Karbuz, Adem, Keles, Sevgi, Kyheng, Christèle, Leon-Lopez, Rafael, Franco, Jose Luis, Mansouri, Davood, Martinez-Picado, Javier, Metin Akcan, Ozge, Migeotte, Isabelle, Morange, Pierre-Emmanuel, Morelle, Guillaume, Martin-Nalda, Andrea, Novelli, Giuseppe, Novelli, Antonio, Ozcelik, Tayfun, Palabiyik, Figen, Pan-Hammarström, Qiang, de Diego, Rebeca Pérez, Planas-Serra, Laura, Pleguezuelo, Daniel E, Prando, Carolina, Pujol, Aurora, Reyes, Luis Felipe, Rivière, Jacques G, Rodriguez-Gallego, Carlos, Rojas, Julian, Rovere-Querini, Patrizia, Schlüter, Agatha, Shahrooei, Mohammad, Sobh, Ali, Soler-Palacin, Pere, Tandjaoui-Lambiotte, Yacine, Tipu, Imran, Tresoldi, Cristina, Troya, Jesus, van de Beek, Diederik, Zatz, Mayana, Zawadzki, Pawel, Al-Muhsen, Saleh Zaid, Alosaimi, Mohammed Faraj, Alsohime, Fahad M, Baris-Feldman, Hagit, Butte, Manish J, Constantinescu, Stefan N, Cooper, Megan A, Dalgard, Clifton L, Fellay, Jacques, Heath, James R, Lau, Yu-Lung, Lifton, Richard P, Maniatis, Tom, Mogensen, Trine H, von Bernuth, Horst, Lermine, Alban, and Vidaud, Michel

Subjects
Clinical Research, Infectious Diseases, Pneumonia & Influenza, Genetics, Human Genome, Prevention, 2.1 Biological and endogenous factors, Aetiology, Humans, Young Adult, Adult, Middle Aged, COVID-19, SARS-CoV-2, Toll-Like Receptor 3, Toll-Like Receptor 7, Interferon Type I, Autoantibodies, COVID Human Genetic Effort, COVIDeF Study Group, French COVID Cohort Study Group, CoV-Contact Cohort, COVID-STORM Clinicians, COVID Clinicians, Orchestra Working Group, Amsterdam UMC Covid-19 Biobank, NIAID-USUHS COVID Study Group, Immunity, Rare variants, Type I interferon, Clinical Sciences
Abstract

BackgroundWe previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15-20% of cases of life-threatening COVID-19 in unvaccinated patients. Therefore, the determinants of life-threatening COVID-19 remain to be identified in ~ 80% of cases.MethodsWe report here a genome-wide rare variant burden association analysis in 3269 unvaccinated patients with life-threatening COVID-19, and 1373 unvaccinated SARS-CoV-2-infected individuals without pneumonia. Among the 928 patients tested for autoantibodies against type I IFN, a quarter (234) were positive and were excluded.ResultsNo gene reached genome-wide significance. Under a recessive model, the most significant gene with at-risk variants was TLR7, with an OR of 27.68 (95%CI 1.5-528.7, P = 1.1 × 10-4) for biochemically loss-of-function (bLOF) variants. We replicated the enrichment in rare predicted LOF (pLOF) variants at 13 influenza susceptibility loci involved in TLR3-dependent type I IFN immunity (OR = 3.70[95%CI 1.3-8.2], P = 2.1 × 10-4). This enrichment was further strengthened by (1) adding the recently reported TYK2 and TLR7 COVID-19 loci, particularly under a recessive model (OR = 19.65[95%CI 2.1-2635.4], P = 3.4 × 10-3), and (2) considering as pLOF branchpoint variants with potentially strong impacts on splicing among the 15 loci (OR = 4.40[9%CI 2.3-8.4], P = 7.7 × 10-8). Finally, the patients with pLOF/bLOF variants at these 15 loci were significantly younger (mean age [SD] = 43.3 [20.3] years) than the other patients (56.0 [17.3] years; P = 1.68 × 10-5).ConclusionsRare variants of TLR3- and TLR7-dependent type I IFN immunity genes can underlie life-threatening COVID-19, particularly with recessive inheritance, in patients under 60 years old.

Published
2023

5. Apolipoprotein E genotypes were not associated with intracranial atherosclerosis: a population-based autopsy study.

Author

Paradela, Regina, Farias-Itao, Daniela, Leite, Renata, Pasqualucci, Carlos, Naslavsky, Michel, Zatz, Mayana, Nitrini, Ricardo, Jacob-Filho, Wilson, Suemoto, Claudia, and Grinberg, Lea

Subjects
Apolipoprotein E, Atherosclerosis, Cerebral arteries, Epidemiology, Risk factors, Female, Humans, Aged, Middle Aged, Aged, 80 and over, Male, Constriction, Pathologic, Cross-Sectional Studies, Autopsy, Intracranial Arteriosclerosis, Apolipoproteins
Abstract

BACKGROUND: Apolipoprotein E gene (APOE) ε4 allele is associated with a higher risk of carotid atherosclerosis, but less is known about the association of APOE with intracranial atherosclerotic disease (IAD). We aimed to investigate the association of APOE alleles with IAD in a cross-sectional autopsy study. METHODS: We measured the stenosis in the 12 arteries of the Circle of Willis using postmortem morphometric measurements. The APOE polymorphism was determined by real-time polymerase chain reaction. We assessed the association between APOE polymorphism and IAD using regression models adjusted for sociodemographic and clinical variables. We also verified the modifier effect of age, sex, and race on this association. We stratified the analysis by age group to investigate the possibility of attrition bias. RESULTS: In 400 participants (mean age=73.2±12.3 years old, 51% female, and 64% White), IAD was evaluated in 4,504 artery segments. APOE-ε4 was not associated with IAD nor with the number of artery stenosis compared to non-APOE-ε4 carriers. Sociodemographic variables did not modify this relationship. Among participants older than 70 years, there was a trend towards an association between APOE allele ε4 and a lower stenosis index in the middle cerebral artery, suggesting attrition bias related to the APOE-ε4 effect on mortality. CONCLUSIONS: APOE alleles were not associated with IAD in this population-based autopsy study. Lower stenosis in older participants suggests the possibility of attrition bias.

Published
2023

6. Global and local ancestry modulate APOE association with Alzheimer’s neuropathology and cognitive outcomes in an admixed sample

Author

Naslavsky, Michel Satya, Suemoto, Claudia K, Brito, Luciano Abreu, Scliar, Marília Oliveira, Ferretti-Rebustini, Renata Eloah, Rodriguez, Roberta Diehl, Leite, Renata EP, Araujo, Nathalia Matta, Borda, Victor, Tarazona-Santos, Eduardo, Jacob-Filho, Wilson, Pasqualucci, Carlos, Nitrini, Ricardo, Yaffe, Kristine, Zatz, Mayana, and Grinberg, Lea T

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical and Health Psychology, Clinical Sciences, Psychology, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Dementia, Acquired Cognitive Impairment, Genetics, Neurodegenerative, Aging, Alzheimer's Disease, Brain Disorders, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Neurological, Humans, Apolipoprotein E4, Alzheimer Disease, Neurofibrillary Tangles, Plaque, Amyloid, Genotype, Biological Factors, Cognition, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Clinical sciences, Biological psychology, Clinical and health psychology
Abstract

Dementia is more prevalent in Blacks than in Whites, likely due to a combination of environmental and biological factors. Paradoxically, clinical studies suggest an attenuation of APOE ε4 risk of dementia in African ancestry (AFR), but a dearth of neuropathological data preclude the interpretation of the biological factors underlying these findings, including the association between APOE ε4 risk and Alzheimer's disease (AD) pathology, the most frequent cause of dementia. We investigated the interaction between African ancestry, AD-related neuropathology, APOE genotype, and functional cognition in a postmortem sample of 400 individuals with a range of AD pathology severity and lack of comorbid neuropathology from a cohort of community-dwelling, admixed Brazilians. Increasing proportions of African ancestry (AFR) correlated with a lower burden of neuritic plaques (NP). However, for individuals with a severe burden of NP and neurofibrillary tangles (NFT), AFR proportion was associated with worse Clinical Dementia Rating sum of boxes (CDR-SOB). Among APOE ε4 carriers, the association between AFR proportion and CDR-SOB disappeared. APOE local ancestry inference of a subset of 309 individuals revealed that, in APOE ε4 noncarriers, non-European APOE background correlated with lower NP burden and, also, worse cognitive outcomes than European APOE when adjusting by NP burden. Finally, APOE ε4 was associated with worse AD neuropathological burden only in a European APOE background. APOE genotype and its association with AD neuropathology and clinical pattern are highly influenced by ancestry, with AFR associated with lower NP burden and attenuated APOE ε4 risk compared to European ancestry.

Published
2022

7. Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype

Author

Shelton, G Diane, Minor, Katie M, Vieira, Natassia M, Kunkel, Louis M, Friedenberg, Steven G, Cullen, Jonah N, Guo, Ling T, Zatz, Mayana, and Mickelson, James R

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Intellectual and Developmental Disabilities (IDD), Pediatric, Duchenne/ Becker Muscular Dystrophy, Genetics, Brain Disorders, Muscular Dystrophy, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Musculoskeletal, Animals, Dogs, Humans, Muscular Dystrophy, Duchenne, Dystrophin, Exons, Phenotype, Muscle, Skeletal, Introns, Dog, Myopathy, Muscular dystrophy, Whole genome sequencing, Medical Physiology, Neurology & Neurosurgery, Clinical sciences, Biological psychology
Abstract

A form of dystrophinopathy with mild or subclinical neuromuscular signs has been previously reported in a family of Labrador retrievers. Markedly and persistently elevated creatine kinase activity was first noted at 6 months of age. Skeletal muscle biopsies revealed a dystrophic phenotype, with dystrophin non-detectable on western blotting and immunohistochemical staining, and with increased utrophin expression. In this report we demonstrate with western blotting that α-dystroglycan is present at essentially normal levels. Whole genome sequencing has also now revealed an approximately 400kb tandem genomic DNA duplication including exons 2-7 of the DMD gene that was inserted into intron 7 of the wild type gene. Skeletal muscle cDNA from 2 cases contained DMD transcripts as expected from an in-frame properly-spliced exon 2-7 tandem insertion. A similar 5' duplication involving DMD exons 2-7 has been reported in a human family with dilated cardiomyopathy but without skeletal myopathy. This is the 3rd confirmed mutation in the DMD gene in Labrador retrievers.

Published
2022

8. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

Author

Abel, Laurent, Aiuti, Alessandro, Al-Muhsen, Saleh, Al-Mulla, Fahd, Amara, Ali, Anderson, Mark S., Andreakos, Evangelos, Arias, Andrés A., Arkin, Lisa M., Feldman, Hagit Baris, Bastard, Paul, Belot, Alexandre, Biggs, Catherine M., Bogunovic, Dusan, Bolze, Alexandre, Bondarenko, Anastasiia, Borghesi, Alessandro, Bousfiha, Ahmed A., Brodin, Petter, Bryceson, Yenan, Butte, Manish J., Casanova, Jean-Laurent, Casari, Giorgio, Christodoulou, John, Cobat, Aurélie, Colobran, Roger, Condino-Neto, Antonio, Constantinescu, Stefan N., Cooper, Megan A., Dalgard, Clifton L., Desai, Murkesh, Drolet, Beth A., Duval, Xavier, El Baghdadi, Jamila, Eloy, Philippine, Espinosa-Padilla, Sara, Fellay, Jacques, Flores, Carlos, Franco, José Luis, Froidure, Antoine, Gorochov, Guy, Gregersen, Peter K., Grimbacher, Bodo, Haerynck, Filomeen, Hagin, David, Halwani, Rabih, Hammarström, Lennart, Heath, James R., Hsieh, Elena W.Y., Husebye, Eystein, Imai, Kohsuke, Itan, Yuval, Jouanguy, Emmanuelle, Kaja, Elżbieta, Karamitros, Timokratis, Kisand, Kai, Ku, Cheng-Lung, Lau, Yu-Lung, Ling, Yun, Lucas, Carrie L., Maniatis, Tom, Mansouri, Davood, Maródi, László, Mentré, France, Meyts, Isabelle, Milner, Joshua D., Mironska, Kristina, Mogensen, Trine H., Morio, Tomohiro, Ng, Lisa F.P., Notarangelo, Luigi D., Novelli, Antonio, Novelli, Giuseppe, O'Farrelly, Cliona, Okada, Satoshi, Okamoto, Keisuke, Ozcelik, Tayfun, Pan-Hammarström, Qiang, Pape, Jean W., Perez de Diego, Rebeca, Perez-Tur, Jordi, Perlin, David S., Pesole, Graziano, Planas, Anna M., Prando, Carolina, Pujol, Aurora, Puel, Anne, Quintana-Murci, Lluis, Ramaswamy, Sathishkumar, Renia, Laurent, Resnick, Igor, Rodríguez-Gallego, Carlos, Sancho-Shimizu, Vanessa, Sediva, Anna, Seppänen, Mikko R.J., Shahrooei, Mohammad, Shcherbina, Anna, Slaby, Ondrej, Snow, Andrew L., Soler-Palacín, Pere, Soumelis, Vassili, Spaan, András N., Tancevski, Ivan, Tangye, Stuart G., Tayoun, Ahmad Abou, Temel, Şehime Gülsün, Thorball, Christian, Tiberghien, Pierre, Trouillet-Assant, Sophie, Turvey, Stuart E., Uddin, K. M. Furkan, Uddin, Mohammed J., van de Beek, Diederik, Vinh, Donald C., von Bernuth, Horst, Wauters, Joost, Zatz, Mayana, Zawadzki, Pawel, Zhang, Qian, Zhang, Shen-Ying, Bureau, Serge, Vacher, Yannick, Gysembergh-Houal, Anne, Demerville, Lauren, Benleulmi-Chaachoua, Abla, Abad, Sebastien, Abassi, Radhiya, Abdellaoui, Abdelrafie, Abdelmalek, Abdelkrim, Abdoul, Hendy, Abergel, Helene, Abeud, Fariza, Abgrall, Sophie, Abisror, Noemie, Adechian, Marylise, Aderdour, Nordine, Admane, Hakeem Farid, Adnet, Frederic, Afritt, Sara, Agostini, Helene, Aguilar, Claire, Agut, Sophie, Aiello, Tommaso Francesco, Kaci, Marc Ait, Oufella, Hafid Ait, Ajeenthiravasan, Gokula, Alauzy, Virginie, Alby-Laurent, Fanny, Allard, Lucie, Alyanakian, Marie-Alexandra, Borrero, Blanca Amador, Amam, Sabrina, Amrouche, Lucile, Andronikof, Marc, Anglicheau, Dany, Anguel, Nadia, Annane, Djillali, Aounzou, Mohammed, Aparicio, Caroline, Aratus, Gladys, Arlet, Jean-Benoit, Arzoine, Jeremy, Aslangul, Elisabeth, Assefi, Mona, Aubry, Adeline, Audiffred, Laetitia, Audureau, Etienne, Auger, Christelle Nathalie, Auregan, Jean-Charles, Awotar, Celine, Milla, Sonia Ayllon, Azan, Delphine, Azemar, Laurene, Azzouguen, Billal, Elrufaai, Marwa Bachir, Badsi, Aïda, Bakouboula, Prissile, Balcerowiak, Coline, Balde, Fanta, Baldivia, Elodie, Bangamingo, Eliane-Flore, Baptiste, Amandine, Baran-Marszak, Fanny, Barau, Caroline, Barget, Nathalie, Baronnet, Flore, Barthelemy, Romain, Baudel, Jean-Luc, Baudry, Camille, Baudry, Elodie, Beaugerie, Laurent, Belamri, Adel, Belaube, Nicolas, Belilita, Rhida, Bellassen, Pierre, Belmokhtar, Rawan, Beltran, Isabel, Benainous, Ruben, Benallaoua, Mourad, Benamouzig, Robert, Benbara, Amélie, Benhida, Jaouad, Benkhelouf, Anis, Benlagha, Jihene, Benmostafa, Chahinez, Benothmane, Skander, Bentifraouine, Miassa, Berard, Laurence, Bernier, Quentin, Berti, Enora, Bertier, Astrid, Berton, Laure, Bessis, Simon, Beurton, Alexandra, Bianco, Celine, Bianquis, Clara, Bidar, Frank, Blanche, Philippe, Blayau, Clarisse, Bleibtreu, Alexandre, Blin, Emmanuelle, Bloch-Queyrat, Coralie, Boissier, Marie-Christophe, Bollens, Diane, Bolzoni, Marion, Bompard, Rudy pierre, Bonnet, Nicolas, Bonnouvrier, Justine, Botha, Shirmonecrystal, Boucenna, Wissam, Bouchama, Fatiha, Bouchaud, Olivier, Bouchghoul, Hanane, Boudjebla, Taoueslylia, Boudjema, Noel, Bouffard, Catherine, Bougle, Adrien, Bouguerra, Meriem, Bouras, Leila, Bourcier, Agnes, Durand, Anne Bourgarit, Bourrier, Anne, Bouscarat, Fabrice, Bouvry, Diane, Bouziri, Nesrine, Bouzrara, Ons, Bribier, Sarah, Brugier, Delphine, Brunel, Melanie, Bui, Eida, Buisson, Anne, Bukreyeva, Iryna, Bureau, Côme, Cadranel, Jacques, Cailhol, Johann, Calin, Ruxandra, Vega, Clara Campos, Canavaggio, Pauline, Cancella, Marta, Cantin, Delphine, Cao, Albert, Carbillon, Lionel, Carlier, Nicolas, Cassard, Clementine, Castor, Guylaine, Cauchy, Marion, Cha, Olivier, Chaigne, Benjamin, Challal, Salima, Champion, Karine, Chariot, Patrick, Chas, Julie, Chauveau, Simon, Chauvin, Anthony, Chauvin, Clement, Chavarot, Nathalie, Chebbout, Kamélia, Cherai, Mustapha, Cherubini, Ilaria, Chevalier, Amelie, Chiarabini, Thibault, Chinet, Thierry, Chocron, Richard, Choinier, Pascaline, Chommeloux, Juliette, Choquet, Christophe, Choupeaux, Laure, Chousterman, Benjamin, Ciocan, Dragosmarius, Clarke, Ada, Clavere, Gaëlle, Clavier, Florian, Clement, Karine, Clerc, Sebastien, Cohen, Yves, Cohen, Fleur, Cohen, Adrien, Coilly, Audrey, Colboc, Hester, Colin, Pauline, Collet, Magalie, Comarmond, Chloé, Combacon, Emeline, Combes, Alain, Comparon, Celine, Constantin, Jean-Michel, Cordel, Hugues, Cordier, Anne-Gael, Costantini, Adrien, Chalumeau, Nathalie Costedoat, Couffignal, Camille, Coupeau, Doriane, Creange, Alain, Lamarre, Yannie Cuvillier, Da Silveira, Charlène, Guibal El Kayani, Sandrine Dautheville, De Castro, Nathalie, De Rycke, Yann, Del Pozo, Lucie, Delannoy, Quentin, Delay, Mathieu, Deleris, Robin, Delforge, Juliette, Delphine, Laëtitia, Demare, Noemie, Demeret, Sophie, Demoule, Alexandre, Deniau, Aurore, Depret, François, Derolez, Sophie, Derradji, Ouda, Derridj, Nawal, Descamps, Vincent, Deschamps, Lydia, Desconclois, Celine, Desnos, Cyrielle, Desongins, Karine, Dhote, Robin, Diallo, Benjamin, Didier, Morgane, Diemer, Myriam, Diez, Stephane, Djadi-Prat, Juliette, Djamouri Monnory, Fatima-Zohra, Djebara, Siham, Djebra, Naoual, Djietcheu, Minette, Djillali, Hadjer, Djouadi, Nouara, Donneger, Severine, Santos, Catarina Dos, Dournon, Nathalie, Dres, Martin, Droctove, Laura, Drogrey, Marie, Dropy, Margot, Drouet, Elodie, Dubosq, Valérie, Dubreucq, Evelyne, Dubus, Estelle, Duchemann, Boris, Duchenoy, Thibault, Dudoignon, Emmanuel, Dufau, Romain, Dumas, Florence, Duran, Clara, Duron, Emmanuelle, Durrbach, Antoine, Duvivier, Claudine, Ebstein, Nathan, El Khalifa, Jihane, Elabbadi, Alexandre, Elie, Caroline, Ernotte, Gabriel, Esling, Anne, Etienne, Martin, Eyer, Xavier, Fartoukh, Muriel Sarah, Fayali, Takoua, Fermaut, Marion, Fiorentino, Arianna, Fliss, Souha, Fournier, Marie-Céline, Fournier, Benjamin, Francois, Hélène, Freynet, Olivia, Frigout, Yvann, Fromont, Isaure, Fuentes, Axelle, Furet, Thomas, Galand, Joris, Garnier, Marc, Gaubert, Agnes, Gaudry, Stéphane, Gaugain, Samuel, Gauthier, Damien, Gautier, Maxime, Georgin-Lavialle, Sophie, Geromin, Daniela, Ghalayini, Mohamed, Ghaleh, Bijan, Ghezal, Myriam, Gibelin, Aude, Gimeno, Linda, Girard, Benoit, Leprieur, Bénédicte Giroux, Gomes, Doryan, Gomes-Pires, Elisabete, Gouge, Anne, Gouja, Amel, Goulet, Helene, Goupil, Sylvain, De Bouille, Jeanne Goupil, Gras, Julien, Greffe, Segolene, Grimaldi, Lamiae, Guedeney, Paul, Guidet, Bertrand, Guillo, Matthias, Gulczynski, Mariechristelle, Hadjam, Tassadit, Haguenauer, Didier, Hammal, Soumeya, Hammoudi, Nadjib, Hanon, Olivier, Harrois, Anarole, Hausfater, Pierre, Hautem, Coraline, Hekimian, Guillaume, Heming, Nicholas, Hermine, Olivier, Ho, Sylvie, Houllier, Marie, Huot, Benjamin, Huscenot, Tessa, Saied, Wafa Ibn, Ikherbane, 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2024
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13. Genetically modified ZIKA virus as a microRNA-sensitive oncolytic virus against central nervous system tumors

Author

Novaes, Gabriela Machado, Lima, Caroline, Longo, Carla, Machado, Pedro Henrique, Silva, Thais Peron, Olberg, Giovanna Gonçalves de Oliveira, Módolo, Diego Grando, Pereira, Márcia Cristina Leite, Santos, Tiago Goss, Zatz, Mayana, Lagares, David, de Franco, Marcelo, Ho, Paulo Lee, Bulstrode, Harry, Okamoto, Oswaldo Keith, and Kaid, Carolini

Published
2024
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14. Assessing the Risk Stratification of Breast Cancer Polygenic Risk Scores in a Brazilian Cohort

Author

Barreiro, Rodrigo Araujo Sequeira, de Almeida, Tatiana Ferreira, Gomes, Catarina dos Santos, Monfardini, Frederico, de Farias, Allysson Allan, Tunes, Gabriela Chiuffa, de Souza, Gabriel Mesquita, Duim, Etienne, de Sá Correia, Jaqueline, Campos Coelho, Antonio Victor, Caraciolo, Marcel Pinheiro, Oliveira Duarte, Yeda Aparecida, Zatz, Mayana, Amaro, Edson, Oliveira, João Bosco, Bitarello, Bárbara Domingues, Brentani, Helena, and Naslavsky, Michel Satya

Published
2024
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15. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

Author

Bastard, Paul, Gervais, Adrian, Le Voyer, Tom, Rosain, Jérémie, Philippot, Quentin, Manry, Jérémy, Michailidis, Eleftherios, Hoffmann, Hans-Heinrich, Eto, Shohei, Garcia-Prat, Marina, Bizien, Lucy, Parra-Martínez, Alba, Yang, Rui, Haljasmägi, Liis, Migaud, Mélanie, Särekannu, Karita, Maslovskaja, Julia, de Prost, Nicolas, Tandjaoui-Lambiotte, Yacine, Luyt, Charles-Edouard, Amador-Borrero, Blanca, Gaudet, Alexandre, Poissy, Julien, Morel, Pascal, Richard, Pascale, Cognasse, Fabrice, Troya, Jesus, Trouillet-Assant, Sophie, Belot, Alexandre, Saker, Kahina, Garçon, Pierre, Rivière, Jacques G, Lagier, Jean-Christophe, Gentile, Stéphanie, Rosen, Lindsey B, Shaw, Elana, Morio, Tomohiro, Tanaka, Junko, Dalmau, David, Tharaux, Pierre-Louis, Sene, Damien, Stepanian, Alain, Megarbane, Bruno, Triantafyllia, Vasiliki, Fekkar, Arnaud, Heath, James R, Franco, José Luis, Anaya, Juan-Manuel, Solé-Violán, Jordi, Imberti, Luisa, Biondi, Andrea, Bonfanti, Paolo, Castagnoli, Riccardo, Delmonte, Ottavia M, Zhang, Yu, Snow, Andrew L, Holland, Steven M, Biggs, Catherine, Moncada-Vélez, Marcela, Arias, Andrés Augusto, Lorenzo, Lazaro, Boucherit, Soraya, Coulibaly, Boubacar, Anglicheau, Dany, Planas, Anna M, Haerynck, Filomeen, Duvlis, Sotirija, Nussbaum, Robert L, Ozcelik, Tayfun, Keles, Sevgi, Bousfiha, Ahmed A, Bakkouri, Jalila El, Ramirez-Santana, Carolina, Paul, Stéphane, Pan-Hammarström, Qiang, Hammarström, Lennart, Dupont, Annabelle, Kurolap, Alina, Metz, Christine N, Aiuti, Alessandro, Casari, Giorgio, Lampasona, Vito, Ciceri, Fabio, Barreiros, Lucila A, Dominguez-Garrido, Elena, Vidigal, Mateus, Zatz, Mayana, van de Beek, Diederik, Sahanic, Sabina, Tancevski, Ivan, Stepanovskyy, Yurii, Boyarchuk, Oksana, Nukui, Yoko, Tsumura, Miyuki, Vidaur, Loreto, Tangye, Stuart G, Burrel, Sonia, Duffy, Darragh, Quintana-Murci, Lluis, and Klocperk, Adam

Subjects
Pneumonia, Lung, Infectious Diseases, Emerging Infectious Diseases, Vaccine Related, Clinical Research, Pneumonia & Influenza, Prevention, Infection, Good Health and Well Being, Adolescent, Adult, Aged, Aged, 80 and over, Antibodies, Neutralizing, Autoantibodies, COVID-19, Case-Control Studies, Child, Child, Preschool, Critical Illness, Humans, Immunoglobulin G, Infant, Infant, Newborn, Interferon Type I, Interferon-alpha, Middle Aged, Young Adult, HGID Lab, COVID Clinicians, COVID-STORM Clinicians, NIAID Immune Response to COVID Group, NH-COVAIR Study Group, Danish CHGE, Danish Blood Donor Study, St. James's Hospital, SARS CoV2 Interest group, French COVID Cohort Study Group, Imagine COVID-Group, Milieu Intérieur Consortium, CoV-Contact Cohort, Amsterdam UMC Covid-19, Biobank Investigators, COVID Human Genetic Effort, CONSTANCES cohort, 3C-Dijon Study, Cerba Health-Care, Etablissement du Sang study group
Abstract

Circulating autoantibodies (auto-Abs) neutralizing high concentrations (10 ng/mL, in plasma diluted 1 to 10) of IFN-α and/or -ω are found in about 10% of patients with critical COVID-19 pneumonia, but not in subjects with asymptomatic infections. We detect auto-Abs neutralizing 100-fold lower, more physiological, concentrations of IFN-α and/or -ω (100 pg/mL, in 1/10 dilutions of plasma) in 13.6% of 3,595 patients with critical COVID-19, including 21% of 374 patients > 80 years, and 6.5% of 522 patients with severe COVID-19. These antibodies are also detected in 18% of the 1,124 deceased patients (aged 20 days-99 years; mean: 70 years). Moreover, another 1.3% of patients with critical COVID-19 and 0.9% of the deceased patients have auto-Abs neutralizing high concentrations of IFN-β. We also show, in a sample of 34,159 uninfected subjects from the general population, that auto-Abs neutralizing high concentrations of IFN-α and/or -ω are present in 0.18% of individuals between 18 and 69 years, 1.1% between 70 and 79 years, and 3.4% >80 years. Moreover, the proportion of subjects carrying auto-Abs neutralizing lower concentrations is greater in a subsample of 10,778 uninfected individuals: 1% of individuals 80 years. By contrast, auto-Abs neutralizing IFN-β do not become more frequent with age. Auto-Abs neutralizing type I IFNs predate SARS-CoV-2 infection and sharply increase in prevalence after the age of 70 years. They account for about 20% of both critical COVID-19 cases in the over-80s, and total fatal COVID-19 cases.

Published
2021

17. FRAGILIDADE: EVOLUÇÃO CONCEITUAL, EPIDEMIOLOGIA E FISIOPATOLOGIA

Author

Barcelos, Estevão Carlos, primary, Barcelos, Divan Henrique Fernandes, additional, Borges, Rafael Rezende, additional, Silveira, Isadora Fernandes, additional, Errera, Lara Imbroisi, additional, de Paula, Flávia, additional, Naslavsky, Michel, additional, Passos-Bueno, Maria Rita, additional, Zatz, Mayana, additional, and Errera, Flávia Imbroisi Valle, additional

Published
2023
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20. A multi‐ethnic reference panel to impute HLA classical and non‐classical class I alleles in admixed samples: Testing imputation accuracy in an admixed sample from Brazil

Author

Silva, Nayane S. B., primary, Bourguiba‐Hachemi, Sonia, additional, Ciriaco, Viviane A. O., additional, Knorst, Stefan H. Y., additional, Carmo, Ramon T., additional, Masotti, Cibele, additional, Meyer, Diogo, additional, Naslavsky, Michel S., additional, Duarte, Yeda A. O., additional, Zatz, Mayana, additional, Gourraud, Pierre‐Antoine, additional, Limou, Sophie, additional, Castelli, Erick C., additional, and Vince, Nicolas, additional

Published
2024
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21. Anti-RBD IgG antibodies from endemic coronaviruses do not protect against the acquisition of SARS-CoV-2 infection among exposed uninfected individuals

Author

Adami, Flávia Lopes, primary, de Castro, Mateus Vidigal, additional, Almeida, Bianca da Silva, additional, Daher, Isabela Pazotti, additional, Yamamoto, Márcio Massao, additional, Souza Santos, Keity, additional, Zatz, Mayana, additional, Naslavsky, Michel Satya, additional, Rosa, Daniela Santoro, additional, Cunha-Neto, Edecio, additional, de Oliveira, Vivian Leite, additional, Kalil, Jorge, additional, and Boscardin, Silvia Beatriz, additional

Published
2024
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24. Author Correction: Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil

Author

Naslavsky, Michel S., Scliar, Marilia O., Yamamoto, Guilherme L., Wang, Jaqueline Yu Ting, Zverinova, Stepanka, Karp, Tatiana, Nunes, Kelly, Ceroni, José Ricardo Magliocco, de Carvalho, Diego Lima, da Silva Simões, Carlos Eduardo, Bozoklian, Daniel, Nonaka, Ricardo, dos Santos Brito Silva, Nayane, da Silva Souza, Andreia, de Souza Andrade, Heloísa, Passos, Marília Rodrigues Silva, Castro, Camila Ferreira Bannwart, Mendes-Junior, Celso T., Mercuri, Rafael L. V., Miller, Thiago L. A., Buzzo, Jose Leonel, Rego, Fernanda O., Araújo, Nathalia M., Magalhães, Wagner C. S., Mingroni-Netto, Regina Célia, Borda, Victor, Guio, Heinner, Rojas, Carlos P., Sanchez, Cesar, Caceres, Omar, Dean, Michael, Barreto, Mauricio L., Lima-Costa, Maria Fernanda, Horta, Bernardo L., Tarazona-Santos, Eduardo, Meyer, Diogo, Galante, Pedro A. F., Guryev, Victor, Castelli, Erick C., Duarte, Yeda A. O., Passos-Bueno, Maria Rita, and Zatz, Mayana

Published
2022
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25. Psychosocial aspects and support networks associated with disability in two longevous populations in Brazil: a cross-sectional study

Author

Nóbrega, Júlia Cristina Leite, Medeiros, Juliana Barbosa, da Silva Freitas, Javanna Lacerda Gomes, Silva, Jaíza M. M., Simões, Raisa Fernandes Mariz, Olinda, Ricardo, de Ferreira Santos, Jair Lício, Menezes, Tarciana Nobre, de Oliveira Duarte, Yeda Aparecida, Zatz, Mayana, Matheson, David, and Santos, Silvana

Published
2022
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26. Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil

Author

Naslavsky, Michel S., Scliar, Marilia O., Yamamoto, Guilherme L., Wang, Jaqueline Yu Ting, Zverinova, Stepanka, Karp, Tatiana, Nunes, Kelly, Ceroni, José Ricardo Magliocco, de Carvalho, Diego Lima, da Silva Simões, Carlos Eduardo, Bozoklian, Daniel, Nonaka, Ricardo, dos Santos Brito Silva, Nayane, da Silva Souza, Andreia, de Souza Andrade, Heloísa, Passos, Marília Rodrigues Silva, Castro, Camila Ferreira Bannwart, Mendes-Junior, Celso T., Mercuri, Rafael L. V., Miller, Thiago L. A., Buzzo, Jose Leonel, Rego, Fernanda O., Araújo, Nathalia M., Magalhães, Wagner C. S., Mingroni-Netto, Regina Célia, Borda, Victor, Guio, Heinner, Rojas, Carlos P., Sanchez, Cesar, Caceres, Omar, Dean, Michael, Barreto, Mauricio L., Lima-Costa, Maria Fernanda, Horta, Bernardo L., Tarazona-Santos, Eduardo, Meyer, Diogo, Galante, Pedro A. F., Guryev, Victor, Castelli, Erick C., Duarte, Yeda A. O., Passos-Bueno, Maria Rita, and Zatz, Mayana

Published
2022
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28. Correction: The oldest unvaccinated Covid-19 survivors in South America

Author

de Castro, Mateus V., Silva, Monize V. R., Naslavsky, Michel S., Scliar, Marilia O., Nunes, Kelly, Passos-Bueno, Maria Rita, Castelli, Erick C., Magawa, Jhosiene Y., Adami, Flávia L., Moretti, Ana I. S., de Oliveira, Vivian L., Boscardin, Silvia B., Cunha-Neto, Edecio, Kalil, Jorge, Jouanguy, Emmanuelle, Bastard, Paul, Casanova, Jean-Laurent, Quiñones-Vega, Mauricio, Sosa-Acosta, Patricia, Guedes, Jéssica de S., de Almeida, Natália P., Nogueira, Fábio C. S., Domont, Gilberto B., Santos, Keity S., and Zatz, Mayana

Published
2022
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29. The oldest unvaccinated Covid-19 survivors in South America

Author

de Castro, Mateus V., Silva, Monize V. R., Naslavsky, Michel S., Scliar, Marilia O., Nunes, Kelly, Passos-Bueno, Maria Rita, Castelli, Erick C., Magawa, Jhosiene Y., Adami, Flávia L., Moretti, Ana I. S., de Oliveira, Vivian L., Boscardin, Silvia B., Cunha-Neto, Edecio, Kalil, Jorge, Jouanguy, Emmanuelle, Bastard, Paul, Casanova, Jean-Laurent, Quiñones-Vega, Mauricio, Sosa-Acosta, Patricia, Guedes, Jéssica de S., de Almeida, Natália P., Nogueira, Fábio C. S., Domont, Gilberto B., Santos, Keity S., and Zatz, Mayana

Published
2022
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37. Podemos transplantar órgãos de porcos em humanos?

Author

Torres, Gustavo, primary, Araujo, Michelle S., additional, Leme, Ligiane, additional, Santos, Nicolle de S. B., additional, Chida, Valéria V., additional, Suzuki, Ângela May, additional, Yoshinaga, Tulio T., additional, Tolezano, Giovanna C., additional, Costa, André, additional, Barbosa, Deibs, additional, Ribeiro, Evelyn L., additional, Bicalho, Taina da S., additional, Braga, Karina A. de O., additional, Pimentel, Vinícius Eduardo, additional, Brito, Luciano de A., additional, Júnior, Luiz C. de C., additional, Zatz, Mayana, additional, Raia, Silvano M. A., additional, and Goulart, Ernesto, additional

Published
2024
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41. Pre-coating decellularized liver with HepG2-conditioned medium improves hepatic recellularization

Author

Caires-Júnior, Luiz Carlos, Goulart, Ernesto, Telles-Silva, Kayque Alves, Araujo, Bruno Henrique Silva, Musso, Camila Manso, Kobayashi, Gerson, Oliveira, Danyllo, Assoni, Amanda, Carvalho, Valdemir Melechco, Ribeiro-Jr, Antônio Fernando, Ishiba, Renata, Braga, Karina Andrighetti Oliveira, Nepomuceno, Natalia, Caldini, Elia, Rangel, Thadeu, Raia, Silvano, Lelkes, Peter I., and Zatz, Mayana

Published
2021
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42. Neuropathological diagnoses and clinical correlates in older adults in Brazil: A cross-sectional study.

Author

Suemoto, Claudia K, Ferretti-Rebustini, Renata EL, Rodriguez, Roberta D, Leite, Renata EP, Soterio, Luciana, Brucki, Sonia MD, Spera, Raphael R, Cippiciani, Tarcila M, Farfel, Jose M, Chiavegatto Filho, Alexandre, Naslavsky, Michel Satya, Zatz, Mayana, Pasqualucci, Carlos A, Jacob-Filho, Wilson, Nitrini, Ricardo, and Grinberg, Lea T

Subjects
Humans, Dementia, Vascular, Dementia, Alzheimer Disease, Cross-Sectional Studies, Cognition, Aged, Aged, 80 and over, Middle Aged, Brazil, Female, Male, Vascular, and over, General & Internal Medicine, Medical and Health Sciences
Abstract

BackgroundClinicopathological studies are important in determining the brain lesions underlying dementia. Although almost 60% of individuals with dementia live in developing countries, few clinicopathological studies focus on these individuals. We investigated the frequency of neurodegenerative and vascular-related neuropathological lesions in 1,092 Brazilian admixed older adults, their correlation with cognitive and neuropsychiatric symptoms, and the accuracy of dementia subtype diagnosis.Methods and findingsIn this cross-sectional study, we describe clinical and neuropathological variables related to cognitive impairment in 1,092 participants (mean age = 74 y, 49% male, 69% white, and mean education = 4 y). Cognitive function was investigated using the Clinical Dementia Rating (CDR) and the Informant Questionnaire on Cognitive Decline in the Elderly (IQCODE); neuropsychiatric symptoms were evaluated using the Neuropsychiatric Inventory (NPI). Associations between neuropathological lesions and cognitive impairment were investigated using ordinal logistic regression. We developed a neuropathological comorbidity (NPC) score and compared it to CDR, IQCODE, and NPI scores. We also described and compared the frequency of neuropathological diagnosis to clinical diagnosis of dementia subtype. Forty-four percent of the sample met criteria for neuropathological diagnosis. Among these participants, 50% had neuropathological diagnoses of Alzheimer disease (AD), and 35% of vascular dementia (VaD). Neurofibrillary tangles (NFTs), hippocampal sclerosis, lacunar infarcts, hyaline atherosclerosis, siderocalcinosis, and Lewy body disease were independently associated with cognitive impairment. Higher NPC scores were associated with worse scores in the CDR sum of boxes (β = 1.33, 95% CI 1.20-1.46), IQCODE (β = 0.14, 95% CI 0.13-0.16), and NPI (β = 1.74, 95% CI = 1.33-2.16). Compared to neuropathological diagnoses, clinical diagnosis had high sensitivity to AD and high specificity to dementia with Lewy body/Parkinson dementia. The major limitation of our study is the lack of clinical follow-up of participants during life.ConclusionsNFT deposition, vascular lesions, and high NPC scorewere associated with cognitive impairment in a unique Brazilian sample with low education. Our results confirm the high prevalence of neuropathological diagnosis in older adults and the mismatch between clinical and neuropathological diagnoses.

Published
2017

43. Diabetes is Not Associated with Alzheimer’s Disease Neuropathology

Author

Dos Santos Matioli, Maria Niures Pimentel, Suemoto, Claudia Kimie, Rodriguez, Roberta Diehl, Farias, Daniela Souza, da Silva, Magnólia Moreira, Leite, Renata Elaine Paraizo, Ferretti-Rebustini, Renata Eloah Lucena, Farfel, José Marcelo, Pasqualucci, Carlos Augusto, Jacob Filho, Wilson, Arvanitakis, Zoe, Naslavsky, Michel Satya, Zatz, Mayana, Grinberg, Lea Tenenholz, and Nitrini, Ricardo

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Dementia, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Brain Disorders, Neurodegenerative, Diabetes, Clinical Research, Aging, Prevention, Acquired Cognitive Impairment, Alzheimer's Disease, 2.1 Biological and endogenous factors, Aetiology, Metabolic and endocrine, Neurological, Aged, Aged, 80 and over, Alzheimer Disease, Apolipoproteins E, Brain, Brazil, Cross-Sectional Studies, Diabetes Mellitus, Educational Status, Female, Humans, Hypoglycemic Agents, Logistic Models, Male, Middle Aged, Multivariate Analysis, Plaque, Amyloid, Alzheimer's disease, autopsy study, dementia, diabetes mellitus, neuropathology, Alzheimer’s disease, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences, Biological psychology
Abstract

BackgroundPrevious evidence linking diabetes to Alzheimer's disease (AD) neuropathology is mixed and scant data are available from low- and middle-income countries.ObjectiveTo investigate the association between diabetes and AD neuropathology in a large autopsy study of older Brazilian adults.MethodsIn this cross-sectional study, diabetes was defined by diagnosis during life or use of antidiabetic medication. A standardized neuropathological examination was performed using immunohistochemistry. The associations of diabetes with Consortium to Establish and Registry for Alzheimer Disease (CERAD) scores for neuritic plaques and Braak-Braak (BB) scores for neurofibrillary tangles were investigated using multivariable ordinal logistic regression. We investigated effect modification of education, race, and APOE on these associations.ResultsAmong 1,037 subjects (mean age = 74.4±11.5 y; mean education = 4.0±3.7 y; 48% male, 61% White), diabetes was present in 279 subjects. Diabetes was not associated with BB (OR = 1.12, 95% CI = 0.81-1.54, p = 0.48) or with CERAD (OR = 0.97, 95% CI = 0.68-1.38, p = 0.86) scores on analyses adjusted for sociodemographic and clinical variables. We observed effect modification by the APOE allele ɛ4 on the association between diabetes mellitus and BB scores.ConclusionNo evidence of an association between diabetes and AD neuropathology was found in a large sample of Brazilians; however, certain subgroups, such as APOE allele ɛ4 carriers, had higher odds of accumulation of neurofibrillary tangles.

Published
2017

44. Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass and fat mass indexes

Author

Scliar, Marilia O., Sant’Anna, Hanaisa P., Santolalla, Meddly L., Leal, Thiago P., Araújo, Nathalia M., Alvim, Isabela, Borda, Victor, Magalhães, Wagner C. S., Gouveia, Mateus H., Lyra, Ricardo, Machado, Moara, Michelin, Lucas, Rodrigues, Maíra R., Araújo, Gilderlanio S., Kehdy, Fernanda S. G., Zolini, Camila, Peixoto, Sérgio V., Luizon, Marcelo R., Lobo, Francisco, Naslavsky, Michel S., Yamamoto, Guilherme L., Duarte, Yeda A. O., Hansen, Matthew E. B., Norris, Shane A., Gilman, Robert H., Guio, Heinner, Hsing, Ann W., Mbulaiteye, Sam M., Mensah, James, Dutil, Julie, Yeager, Meredith, Yeboah, Edward, Tishkoff, Sarah A., Choudhury, Ananyo, Ramsay, Michele, Passos-Bueno, Maria Rita, Zatz, Mayana, O´Connor, Timothy D., Pereira, Alexandre C., Barreto, Mauricio L., Lima-Costa, Maria Fernanda, Horta, Bernardo L., and Tarazona-Santos, Eduardo

Published
2021
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45. Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay

Author

Melo, Uirá Souto, Bonner, Devon, Kent Lloyd, Kevin C., Moshiri, Ala, Willis, Brandon, Lanoue, Louise, Bower, Lynette, Leonard, Brian C., Martins, Davi Jardim, Gomes, Fernando, de Souza Leite, Felipe, Oliveira, Danyllo, Kitajima, João Paulo, Monteiro, Fabiola P., Zatz, Mayana, Menck, Carlos Frederico Martins, Wheeler, Matthew T., Bernstein, Jonathan A., Dumas, Kevin, Spiteri, Elizabeth, Di Donato, Nataliya, Jahn, Arne, Hashem, Mais, Alsaif, Hessa S., Chedrawi, Aziza, Alkuraya, Fowzan S., Kok, Fernando, and Byers, Heather M.

Published
2021
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47. Anti-RBD IgG antibodies from endemic coronaviruses do not protect against the acquisition of SARS-CoV-2 infection among exposed uninfected individuals.

Author

Lopes Adami, Flávia, de Castro, Mateus Vidigal, da Silva Almeida, Bianca, Pazotti Daher, Isabela, Massao Yamamoto, Márcio, Santos, Keity Souza, Zatz, Mayana, Satya Naslavsky, Michel, Santoro Rosa, Daniela, Cunha-Neto, Edecio, Leite de Oliveira, Vivian, Kalil, Jorge, and Boscardin, Silvia Beatriz

Subjects
MIDDLE East respiratory syndrome, SARS-CoV-2, CORONAVIRUS diseases, CORONAVIRUSES, IMMUNOGLOBULIN G, ENDEMIC diseases
Abstract

Background: The Coronaviridae family comprises seven viruses known to infect humans, classified into alphacoronaviruses (HCoV-229E and HCoV-NL63) and betacoronaviruses (HCoV-OC43 and HCoV-HKU1), which are considered endemic. Additionally, it includes SARS-CoV (severe acute respiratory syndrome), MERS-CoV (Middle East respiratory syndrome), and the novel coronavirus SARSCoV- 2, responsible for COVID-19. SARS-CoV-2 induces severe respiratory complications, particularly in the elderly, immunocompromised individuals and those with underlying diseases. An essential question since the onset of the COVID-19 pandemic has been to determine whether prior exposure to seasonal coronaviruses influences immunity or protection against SARS-CoV-2. Methods: In this study, we investigated a cohort of 47 couples (N=94), where one partner tested positive for SARS-CoV-2 infection via real-time PCR while the other remained negative. Plasma samples, collected at least 30 days post-PCR reaction, were assessed using indirect ELISA and competition assays to measure specific antibodies against the receptor-binding domain (RBD) portion of the Spike (S) protein from SARS-CoV-2, HCoV-229E, HCoV-NL63, HCoV-OC43, and HCoV-HKU1. Results: IgG antibody levels against the four endemic coronavirus RBD proteins were similar between the PCR-positive and PCR-negative individuals, suggesting that IgG against endemic coronavirus RBD regions was not associated with protection from infection. Moreover, we found no significant IgG antibody crossreactivity between endemic coronaviruses and SARS-CoV-2 RBDs. Conclusions: Taken together, results suggest that anti-RBD antibodies induced by a previous infection with endemic HCoVs do not protect against acquisition of COVID-19 among exposed uninfected individuals. [ABSTRACT FROM AUTHOR]

Published
2024
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48. The Role of Pericytes in Amyotrophic Lateral Sclerosis

Author

Coatti, Giuliana Castello, Cavaçana, Natale, Zatz, Mayana, COHEN, IRUN R., Editorial Board Member, LAJTHA, ABEL, Editorial Board Member, LAMBRIS, JOHN D., Editorial Board Member, PAOLETTI, RODOLFO, Editorial Board Member, REZAEI, NIMA, Editorial Board Member, and Birbrair, Alexander, editor

Published
2019
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49. Association between APOE‐ε4 allele and cognitive function is mediated by Alzheimer’s disease pathology: a population‐based autopsy study in an admixed sample

Author

Paradela, Regina Silva, primary, Paes, Vitor Ribeiro, additional, Justo, Alberto Fernando Oliveira, additional, Leite, Renata Elaine Paraizo, additional, Pasquallucci, Carlos Augusto, additional, Grinberg, Lea T., additional, Naslavsky, Michel S, additional, Zatz, Mayana, additional, Nitrini, Ricardo, additional, Jacob‐Filho, Wilson, additional, and Suemoto, Claudia Kimie, additional

Published
2023
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50. Quantification of encephalic transcripts of the APOE allele specific gene of European and African ancestry

Author

Nascimento Santos, Gabriel, primary, Suemoto, Claudia Kimie, additional, Ferretti‐Rebustini, Renata Eloah de Lucena, additional, Rodriguez, Roberta Diehl, additional, Grinberg, Lea T., additional, Pasqualucci, Carlos Augusto, additional, Brito, Luciano Abreu, additional, Scliar, Marília Oliveira, additional, Leite, Renata Elaine Paraizo, additional, Araujo, Nathalia Matta, additional, Borda, Victor, additional, Tarazona‐Santos, Eduardo, additional, Jacob‐Filho, Wilson, additional, Nitrini, Ricardo, additional, Yaffe, Kristine, additional, Zatz, Mayana, additional, Haddad, Luciana Amaral, additional, and Naslavsky, Michel S, additional

Published
2023
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