Artigos e Materiais de Revistas Científicas - FM/MPE

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A coleção de Artigos e Materiais de Revistas Científicas engloba artigos originais, artigos de revisão, artigos de atualização, artigos técnicos, relatos de experiências, resenhas, ensaios, editoriais, cartas ao editor, debates, notas científicas e técnicas, depoimentos, entrevistas e pontos de vista. Consideram-se como artigos científicos originais os trabalhos redigidos para divulgação de informações e resultados sobre determinada pesquisa científica, publicados em periódico científico após avaliação por outros pesquisadores.

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Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children
(2023) LEE, Danyel; PEN, Jeremie Le; YATIM, Ahmad; DONG, Beihua; AQUINO, Yann; OGISHI, Masato; PESCARMONA, Remi; TALOUARN, Estelle; RINCHAI, Darawan; ZHANG, Peng; PERRET, Magali; RICE, Charles M.; SILVERMAN, Robert H.; ZHANG, Shen-Ying; CASANOVA, Jean-Laurent; LIU, Zhiyong; JORDAN, Iolanda; BOZDEMIR, Sefika Elmas; BAYHAN, Gulsum Iclal; BEAUFILS, Camille; BIZIEN, Lucy; BISIAUX, Aurelie; LEI, Weite; HASAN, Milena; CHEN, Jie; GAUGHAN, Christina; ASTHANA, Abhishek; LIBRI, Valentina; LUNA, Joseph M.; JAFFRE, Fabrice; HOFFMANN, H. Heinrich; MICHAILIDIS, Eleftherios; MOREEWS, Marion; SEELEUTHNER, Yoann; BILGUVAR, Kaya; MANE, Shrikant; FLORES, Carlos; ZHANG, Yu; ARIAS, Andres A.; BAILEY, Rasheed; SCHLUTER, Agatha; MILISAVLJEVIC, Baptiste; BIGIO, Benedetta; VOYER, Tom Le; MATERNA, Marie; GERVAIS, Adrian; MONCADA-VELEZ, Marcela; PALA, Francesca; LAZAROV, Tomi; LEVY, Romain; NEEHUS, Anna-Lena; ROSAIN, Jeremie; PEEL, Jessica; CHAN, Yi-Hao; MORIN, Marie-Paule; PINO-RAMIREZ, Rosa Maria; BELKAYA, Serkan; LORENZO, Lazaro; ANTON, Jordi; DELAFONTAINE, Selket; TOUBIANA, Julie; BAJOLLE, Fanny; FUMADO, Victoria; DEDIEGO, Marta L.; FIDOUH, Nadhira; ROZENBERG, Flore; PEREZ-TUR, Jordi; CHEN, Shuibing; EVANS, Todd; GEISSMANN, Frederic; LEBON, Pierre; WEISS, Susan R.; BONNET, Damien; DUVAL, Xavier; PAN-HAMMARSTROM, Qiang; PLANAS, Anna M.; MEYTS, Isabelle; HAERYNCK, Filomeen; PUJOL, Aurora; SANCHO-SHIMIZU, Vanessa; DALGARD, Clifford L.; BUSTAMANTE, Jacinta; PUEL, Anne; BOISSON-DUPUIS, Stephanie; BOISSON, Bertrand; MANIATIS, Tom; ZHANG, Qian; BASTARD, Paul; NOTARANGELO, Luigi; BEZIAT, Vivien; DIEGO, Rebeca Perez de; RODRIGUEZ-GALLEGO, Carlos; SU, Helen C.; LIFTON, Richard P.; JOUANGUY, Emmanuelle; COBAT, Aurelie; ALSINA, Laia; KELES, Sevgi; HADDAD, Elie; ABEL, Laurent; BELOT, Alexandre; QUINTANA-MURCI, Lluis
Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of OAS1, OAS2, or RNASEL in five unrelated children with MIS-C. The cytosolic double-stranded RNA (dsRNA)-sensing OAS1 and OAS2 generate 2'-5'-linked oligoadenylates (2-5A) that activate the single-stranded RNA-degrading ribonuclease L (RNase L). Monocytic cell lines and primary myeloid cells with OAS1, OAS2, or RNase L deficiencies produce excessive amounts of inflammatory cytokines upon dsRNA or severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) stimulation. Exogenous 2-5A suppresses cytokine production in OAS1-deficient but not RNase L-deficient cells. Cytokine production in RNase L-deficient cells is impaired by MDA5 or RIG-I deficiency and abolished by mitochondrial antiviral-signaling protein (MAVS) deficiency. Recessive OAS-RNase L deficiencies in these patients unleash the production of SARS-CoV-2-triggered, MAVS-mediated inflammatory cytokines by mononuclear phagocytes, thereby underlying MIS-C.
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
(2023) LAZZARO FILHO, Ricardo Di; YAMAMOTO, Guilherme Lopes; SILVA, Tiago J.; ROCHA, Leticia A.; LINNENKAMP, Bianca D. W.; CASTRO, Matheus Augusto Araujo; BARTHOLDI, Deborah; SCHALLER, Andre; LEEB, Tosso; KELMANN, Samantha; UTAGAWA, Claudia Y.; STEINER, Carlos E.; STEINMETZ, Leandra; HONJO, Rachel Sayuri; KIM, Chong Ae; WANG, Lisa; ABOURJAILI-BILODEAU, Raphael; CAMPEAU, Philippe; WARMAN, Matthew; PASSOS-BUENO, Maria Rita; HOCH, Nicolas C.; BERTOLA, Debora Romeo
Rothmund-Thomson syndrome (RTS) is a rare, heterogeneous autosomal recessive genodermatosis, with poikiloderma as its hallmark. It is classified into two types: type I, with biallelic variants in ANAPC1 and juvenile cataracts, and type II, with biallelic variants in RECQL4, increased cancer risk and no cataracts. We report on six Brazilian probands and two siblings of Swiss/Portuguese ancestry presenting with severe short stature, widespread poikiloderma and congenital ocular anomalies. Genomic and functional analysis revealed compound heterozygosis for a deep intronic splicing variant in trans with loss of function variants in DNA2, with reduction of the protein levels and impaired DNA double-strand break repair. The intronic variant is shared by all patients, as well as the Portuguese father of the European siblings, indicating a probable founder effect. Biallelic variants in DNA2 were previously associated with microcephalic osteodysplastic primordial dwarfism. Although the individuals reported here present a similar growth pattern, the presence of poikiloderma and ocular anomalies is unique. Thus, we have broadened the phenotypical spectrum of DNA2 mutations, incorporating clinical characteristics of RTS. Although a clear genotype-phenotype correlation cannot be definitively established at this moment, we speculate that the residual activity of the splicing variant allele could be responsible for the distinct manifestations of DNA2-related syndromes.
Disease progression in Sanfilippo type B: Case series of Brazilian patients
(2024) MONTENEGRO, Yorran Hardman Araujo; KUBASKI, Francyne; TRAPP, Franciele Barbosa; RIEGEL-GIUGLIANI, Mariluce; SOUZA, Carolina Fischinger Moura de; RIBEIRO, Erlane Marques; LOURENCO, Charles Marques; CARDOSO-DOS-SANTOS, Augusto Cesar; RIBEIRO, Marcia Goncalves; KIM, Chong Ae; CASTRO, Matheus Augusto Araujo; EMBIRUCU, Emilia Katiane; STEINER, Carlos Eduardo; VAIRO, Filippo Pinto e; BALDO, Guilherme; GIUGLIANI, Roberto; POSWAR, Fabiano de Oliveira
Mucopolysaccharidosis type IIIB (MPS IIIB) is caused by deficiency of alpha-N-acetylglucosaminidase, leading to storage of heparan sulphate. The disease is characterized by intellectual disability and hyperactivity, among other neurological and somatic features. Here we studied retrospective data from a total of 19 MPS IIIB patients from Brazil, aiming to evaluate disease progression. Mean age at diagnosis was 7.2 years. Speech delay was one of the first symptoms to be identified, around 2-3 years of age. Behavioral alterations include hyperactivity and aggressiveness, starting around age four. By the end of the first decade, patients lost acquired abilities such as speech and ability to walk. Furthermore, as disease progresses, respiratory, cardiovascular and joint abnormalities were found in more than 50% of the patients, along with organomegaly. Most common cause of death was respiratory problems. The disease progression was characterized in multiple systems, and hopefully these data will help the design of appropriate clinical trials and clinical management guidelines.
Childhood-onset systemic lupus erythematosus (cSLE) and malignancy: a nationwide multicentre series review
(2024) BRUFATTO, Matheus Zanata; LANCAS, Sean Hideo Shirata; FERNANDES, Taciana de Albuquerque Pedrosa; SALLUM, Adriana Maluf Elias; CAMPOS, Lucia Maria Arruda; SAKAMOTO, Ana Paula; TERRERI, Maria Teresa; SZTAJNBOK, Flavio Roberto; BICA, Blanca Elena Rios Gomes; FERRIANI, Virginia Paes Leme; CARVALHO, Luciana Martins de; SILVA, Clovis Artur Almeida; SAAD-MAGALHAES, Claudia
BackgroundIncreased malignancy frequency is well documented in adult-systemic lupus erythematosus (SLE), but with limited reports in childhood-onset SLE (cSLE) series. We explored the frequency of malignancy associated with cSLE, describing clinical and demographic characteristics, disease activity and cumulative damage, by the time of malignancy diagnosis.MethodA retrospective case-notes review, in a nationwide cohort from 27 Pediatric Rheumatology centres, with descriptive biopsy-proven malignancy, disease activity/damage accrual, and immunosuppressive treatment were compiled in each participating centre, using a standard protocol.ResultsOf the 1757 cSLE cases in the updated cohort, 12 (0.7%) developed malignancy with median time 10 years after cSLE diagnosis. There were 91% females, median age at cSLE diagnosis 12 years, median age at malignancy diagnosis 23 years. Of all diagnosed malignancies, 11 were single-site, and a single case with concomitant multiple sites; four had haematological (0.22%) and 8 solid malignancy (0.45%). Median (min-max) SLEDAI-2 K scores were 9 (0-38), median (min-max) SLICC/ACR-DI (SDI) score were 1 (1-5) Histopathology defined 1 Hodgkin's lymphoma, 2 non-Hodgkin's lymphoma, 1 acute lymphoblastic leukaemia; 4 gastrointestinal carcinoma, 1 squamous cell carcinoma of the tongue and 1 anal carcinoma; 1 had sigmoid adenocarcinoma and 1 stomach carcinoid; 3 had genital malignancy, being 1 vulvae, 1 cervix and 1 vulvae and cervix carcinomas; 1 had central nervous system oligodendroglioma; and 1 testicle germ cell teratoma.ConclusionEstimated malignancy frequency of 0.7% was reported during cSLE follow up in a multicentric series. Median disease activity and cumulative damage scores, by the time of malignancy diagnoses, were high; considering that reported in adult series.
Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature
(2024) TOLEZANO, Giovanna Cantini; BASTOS, Giovanna Civitate; COSTA, Silvia Souza da; FREIRE, Bruna Lucheze; HOMMA, Thais Kataoka; HONJO, Rachel Sayuri; YAMAMOTO, Guilherme Lopes; PASSOS-BUENO, Maria Rita; KOIFFMANN, Celia Priszkulnik; KIM, Chong Ae; VIANNA-MORGANTE, Angela Maria; JORGE, Alexander Augusto de Lima; BERTOLA, Debora Romeo; ROSENBERG, Carla; KREPISCHI, Ana Cristina Victorino
Microcephaly presents heterogeneous genetic etiology linked to several neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal mechanism of microcephaly whose investigation is a crucial step for unraveling its molecular basis. Our purpose was to investigate the burden of rare CNVs in microcephalic individuals and to review genes and CNV syndromes associated with microcephaly. We performed chromosomal microarray analysis (CMA) in 185 Brazilian patients with microcephaly and evaluated microcephalic patients carrying < 200 kb CNVs documented in the DECIPHER database. Additionally, we reviewed known genes and CNV syndromes causally linked to microcephaly through the PubMed, OMIM, DECIPHER, and ClinGen databases. Rare clinically relevant CNVs were detected in 39 out of the 185 Brazilian patients investigated by CMA (21%). In 31 among the 60 DECIPHER patients carrying < 200 kb CNVs, at least one known microcephaly gene was observed. Overall, four gene sets implicated in microcephaly were disclosed: known microcephaly genes; genes with supporting evidence of association with microcephaly; known macrocephaly genes; and novel candidates, including OTUD7A, BBC3, CNTN6, and NAA15. In the review, we compiled 957 known microcephaly genes and 58 genomic CNV loci, comprising 13 duplications and 50 deletions, which have already been associated with clinical findings including microcephaly. We reviewed genes and CNV syndromes previously associated with microcephaly, reinforced the high CMA diagnostic yield for this condition, pinpointed novel candidate loci linked to microcephaly deserving further evaluation, and provided a useful resource for future research on the field of neurodevelopment.
Study of the peripheral and central auditory pathways in patients with mucopolysaccharidosis
(2024) CHIMELO, Flavia Teixeira; SILVA, Liliane Aparecida Fagundes; NEVES-LOBO, Ivone Ferreira; KIM, Chong Ae; MATAS, Carla Gentile
Objective: To investigate the peripheral and central auditory pathways in mucopolysaccharidosis (MPS) individuals. Method: The research sample comprised 15 individuals (one female and 14 males), aged 8 to 46 years. The following procedures were used: medical history survey, otoscopy, speech and puretone threshold audiometry, acoustic immittance measures, and central auditory pathway assessment with brainstem auditory evoked potentials (BAEP) and long-latency auditory evoked potentials (LLAEP). Results: The pure-tone audiometry identified hearing loss in 13 individuals, and more than 90 % of the hearing loss was sensorineural. The degree of hearing loss was between mild to moderately severe with descendent configuration. Type A tympanogram predominated, and acoustic reflexes were present according to the types and degrees of hearing loss. Among the individuals with abnormal BAEP, longer wave III and V absolute latencies were the main findings. In addition, the unilateral absence of wave I was observed in two cases. In the LLAEP, longer latencies were observed in 14 individuals, and the most impaired components were the P1 and P3 in children and adolescents and the P2, N2 and P3 in adult individuals. Conclusion: The peripheral auditory pathway assessment revealed a predominantly sensorineural hearing loss, affecting mainly high frequencies, and in the central pathway was observed abnormal brainstem and cortical auditory processing in individuals with MPS.
High Fatality Rates in Pediatric Multisystem Inflammatory Syndrome: A Multicenter Experience From the Epicenter of Brazil's Coronavirus Pandemic
(2024) ALMEIDA, Flavia Jacqueline; JAROVSKY, Daniel; FARIAS, Camila Giuliana Almeida; CASTILHO, Taisa Roberta Ramos Nantes de; CAETANO, Thiago Gara; BORSETTO, Cibele Cristina Manzoni Ribeiro; AGUIAR, Andressa Simoes; ARAUJO, Carolina Serafini de; PEREIRA, Maria Fernanda Badue; MARQUES, Heloisa Helena de Sousa; SILVA, Clovis Artur; TANNURE, Andressa Ribeiro de Matos; PRADO, Rogerio; MAU, Luciana Becker; ALVARES, Paula Andrade; SIQUEIRA, Antonio Carlos de; SCREMIN, Gustavo Paro; OTSUKA, Marcelo; ARNONI, Mariana Volpe; LAPORTE, Roberta Machado Rissoni; CARLESSE, Fabianne Altruda de Moraes Costa; EJZENBERG, Fernanda; BEREZIN, Eitan Naaman; SAFADI, Marco Aurelio Palazzi
Background:Brazil ' s case fatality rate (CFR) of pediatric multisystem inflammatory syndrome in children and adolescents (MIS-C) is among the highest worldwide. Despite these concerns, limited hospital-based and comprehensive pediatric data have been published on MIS-C in Brazilian children.We performed a descriptive analysis of the MIS-C scores in 16 public and private hospitals providing secondary and tertiary care in the metropolitan area of Sao Paulo, Brazil. Clinical and demographic information were systematically extracted from the electronic medical records of each patient. Logistic regression analysis was performed to identify the combined effects of MIS-C phenotype, disease severity and comorbidity as dependent variables.A total of 101 patients met the MIS-C criteria and were evaluated. The median age was 67 months, 60% were male, 28.7% were black or afrodescendant and 62.3% were admitted to public hospitals. Underlying medical conditions were observed in 16.8% of patients and were associated with a longer duration of hospitalization. A Kawasaki disease-like phenotype was observed in 43.5% of patients, and they demonstrated a trend of lower median age. Children with severe MIS-C were older (median age 91 months vs. 36 months) and had a nonspecific phenotype, more cardiovascular and respiratory involvement and kidney injury; 73.3% required intensive care, 20.8% required mechanical ventilation and 35.6% required inotropic support. Four deaths occurred (CFR = 3.9%), three of which were in healthy participants.We identified a lower median age, particularly among children with Kawasaki disease-like phenotypes, those with a significant need for intensive care, and a high CFR in MIS-C. Our findings confirmed the increased severity of the disease in the selected Brazilian population.Background:Brazil ' s case fatality rate (CFR) of pediatric multisystem inflammatory syndrome in children and adolescents (MIS-C) is among the highest worldwide. Despite these concerns, limited hospital-based and comprehensive pediatric data have been published on MIS-C in Brazilian children.We performed a descriptive analysis of the MIS-C scores in 16 public and private hospitals providing secondary and tertiary care in the metropolitan area of Sao Paulo, Brazil. Clinical and demographic information were systematically extracted from the electronic medical records of each patient. Logistic regression analysis was performed to identify the combined effects of MIS-C phenotype, disease severity and comorbidity as dependent variables.A total of 101 patients met the MIS-C criteria and were evaluated. The median age was 67 months, 60% were male, 28.7% were black or afrodescendant and 62.3% were admitted to public hospitals. Underlying medical conditions were observed in 16.8% of patients and were associated with a longer duration of hospitalization. A Kawasaki disease-like phenotype was observed in 43.5% of patients, and they demonstrated a trend of lower median age. Children with severe MIS-C were older (median age 91 months vs. 36 months) and had a nonspecific phenotype, more cardiovascular and respiratory involvement and kidney injury; 73.3% required intensive care, 20.8% required mechanical ventilation and 35.6% required inotropic support. Four deaths occurred (CFR = 3.9%), three of which were in healthy participants.We identified a lower median age, particularly among children with Kawasaki disease-like phenotypes, those with a significant need for intensive care, and a high CFR in MIS-C. Our findings confirmed the increased severity of the disease in the selected Brazilian population.Background:Brazil ' s case fatality rate (CFR) of pediatric multisystem inflammatory syndrome in children and adolescents (MIS-C) is among the highest worldwide. Despite these concerns, limited hospital-based and comprehensive pediatric data have been published on MIS-C in Brazilian children.We performed a descriptive analysis of the MIS-C scores in 16 public and private hospitals providing secondary and tertiary care in the metropolitan area of Sao Paulo, Brazil. Clinical and demographic information were systematically extracted from the electronic medical records of each patient. Logistic regression analysis was performed to identify the combined effects of MIS-C phenotype, disease severity and comorbidity as dependent variables.A total of 101 patients met the MIS-C criteria and were evaluated. The median age was 67 months, 60% were male, 28.7% were black or afrodescendant and 62.3% were admitted to public hospitals. Underlying medical conditions were observed in 16.8% of patients and were associated with a longer duration of hospitalization. A Kawasaki disease-like phenotype was observed in 43.5% of patients, and they demonstrated a trend of lower median age. Children with severe MIS-C were older (median age 91 months vs. 36 months) and had a nonspecific phenotype, more cardiovascular and respiratory involvement and kidney injury; 73.3% required intensive care, 20.8% required mechanical ventilation and 35.6% required inotropic support. Four deaths occurred (CFR = 3.9%), three of which were in healthy participants.We identified a lower median age, particularly among children with Kawasaki disease-like phenotypes, those with a significant need for intensive care, and a high CFR in MIS-C. Our findings confirmed the increased severity of the disease in the selected Brazilian population.Background:Brazil ' s case fatality rate (CFR) of pediatric multisystem inflammatory syndrome in children and adolescents (MIS-C) is among the highest worldwide. Despite these concerns, limited hospital-based and comprehensive pediatric data have been published on MIS-C in Brazilian children.We performed a descriptive analysis of the MIS-C scores in 16 public and private hospitals providing secondary and tertiary care in the metropolitan area of Sao Paulo, Brazil. Clinical and demographic information were systematically extracted from the electronic medical records of each patient. Logistic regression analysis was performed to identify the combined effects of MIS-C phenotype, disease severity and comorbidity as dependent variables.A total of 101 patients met the MIS-C criteria and were evaluated. The median age was 67 months, 60% were male, 28.7% were black or afrodescendant and 62.3% were admitted to public hospitals. Underlying medical conditions were observed in 16.8% of patients and were associated with a longer duration of hospitalization. A Kawasaki disease-like phenotype was observed in 43.5% of patients, and they demonstrated a trend of lower median age. Children with severe MIS-C were older (median age 91 months vs. 36 months) and had a nonspecific phenotype, more cardiovascular and respiratory involvement and kidney injury; 73.3% required intensive care, 20.8% required mechanical ventilation and 35.6% required inotropic support. Four deaths occurred (CFR = 3.9%), three of which were in healthy participants. We identified a lower median age, particularly among children with Kawasaki disease-like phenotypes, those with a significant need for intensive care, and a high CFR in MIS-C. Our findings confirmed the increased severity of the disease in the selected Brazilian population.
Reassessing the role of milrinone in the treatment of heart failure and pulmonary hypertension in neonates and children: a systematic review and meta-analysis
(2024) MATSUSHITA, Felipe Yu; KREBS, Vera Lucia Jornada; CAMPOS, Carolina Vieira de; GAIOLLA, Paula Vieira de Vincenzi; CARVALHO, Werther Brunow de
To evaluate milrinone's impact on pediatric cardiac function, focusing on its specific role as an inotrope and lusitrope, while considering its systemic and pulmonary vasodilatory effects. Search of PubMed, EMBASE, and the Cochrane Library up to August 2023. We included all studies that evaluated milrinone in children under 18 years old in neonatal, pediatric, or cardiac intensive care units. We excluded case reports, studies that did not provide tabular information on milrinone's outcomes, and studies focused on non-intensive care populations. We extracted data on the research design, objectives, study sample, and results of each study, including the impact of milrinone and any associated factors. We screened a total of 9423 abstracts and 41 studies were ultimately included. Milrinone significantly improved left ventricular ejection fraction (WMD 3.41 [95% CI 0.61 - 6.21]), left ventricle shortening fraction (WMD 4.25 [95% CI 3.43 - 5.08]), cardiac index (WMD 0.50 [95% CI 0.32 to 0.68]), left ventricle output (WMD 55.81 [95% CI 4.91 to 106.72]), serum lactate (WMD -0.59 [95% CI -1.15 to -0.02]), and stroke volume index (WMD 2.95 [95% CI 0.09 - 5.82]). However, milrinone was not associated with improvements in ventricular myocardial performance index (WMD -0.01 [95% CI -0.06 to 0.04]) and ventricular longitudinal strain (WMD -2.14 [95% CI -4.56 to 0.28]). Furthermore, milrinone was not associated with isovolumetric relaxation time reduction (WMD -8.87 [95% CI -21.40 to 3.66]).Conclusion: Our meta-analysis suggests potential clinical benefits of milrinone by improving cardiac function, likely driven by its systemic vasodilatory effects. However, questions arise about its inotropic influence and the presence of a lusitropic effect. Moreover, milrinone's pulmonary vasodilatory effect appears relatively weaker compared to its systemic actions. Further research is needed to elucidate milrinone's precise mechanisms and refine its clinical applications in pediatric practice.What is Known:center dot Milrinone is a phosphodiesterase III inhibitor that has been used to treat a variety of pediatric and neonatal conditions.center dot Milrinone is believed to exert its therapeutic effects by enhancing cardiac contractility and promoting vascular relaxation.What is New:center dot Milrinone may not have a significant inotropic effect.center dot Milrinone's pulmonary vasodilatory effect is less robust than its systemic vasodilatory effect.
Data-driven, cross-disciplinary collaboration: lessons learned at the largest academic health center in Latin America during the COVID-19 pandemic
(2024) RITTO, Ana Paula; ARAUJO, Adriana Ladeira de; CARVALHO, Carlos Roberto Ribeiro de; SOUZA, Heraldo Possolo De; FAVARETTO, Patricia Manga e Silva; SABOYA, Vivian Renata Boldrim; GARCIA, Michelle Louvaes; KULIKOWSKI, Leslie Domenici; KALLAS, Esper Georges; PEREIRA, Antonio Jose Rodrigues; COBELLO JUNIOR, Vilson; SILVA, Katia Regina; ABDALLA, Eidi Raquel Franco; SEGURADO, Aluisio Augusto Cotrim; SABINO, Ester Cerdeira; RIBEIRO JUNIOR, Ulysses; FRANCISCO, Rossana Pulcineli Vieira; MIETHKE-MORAIS, Anna; LEVIN, Anna Sara Shafferman; SAWAMURA, Marcio Valente Yamada; FERREIRA, Juliana Carvalho; SILVA, Clovis Artur; MAUAD, Thais; GOUVEIA, Nelson da Cruz; LETAIF, Leila Suemi Harima; BEGO, Marco Antonio; BATTISTELLA, Linamara Rizzo; DUARTE, Alberto Jose da Silva; SEELAENDER, Marilia Cerqueira Leite; MARCHINI, Julio; FORLENZA, Orestes Vicente; ROCHA, Vanderson Geraldo; MENDES-CORREA, Maria Cassia; COSTA, Silvia Figueiredo; CERRI, Giovanni Guido; BONFA, Eloisa Silva Dutra de Oliveira; CHAMMAS, Roger; BARROS FILHO, Tarcisio Eloy Pessoa de; BUSATTO FILHO, Geraldo
Introduction The COVID-19 pandemic has prompted global research efforts to reduce infection impact, highlighting the potential of cross-disciplinary collaboration to enhance research quality and efficiency.Methods At the FMUSP-HC academic health system, we implemented innovative flow management routines for collecting, organizing and analyzing demographic data, COVID-related data and biological materials from over 4,500 patients with confirmed SARS-CoV-2 infection hospitalized from 2020 to 2022. This strategy was mainly planned in three areas: organizing a database with data from the hospitalizations; setting-up a multidisciplinary taskforce to conduct follow-up assessments after discharge; and organizing a biobank. Additionally, a COVID-19 curated collection was created within the institutional digital library of academic papers to map the research output.Results Over the course of the experience, the possible benefits and challenges of this type of research support approach were identified and discussed, leading to a set of recommended strategies to enhance collaboration within the research institution. Demographic and clinical data from COVID-19 hospitalizations were compiled in a database including adults and a minority of children and adolescents with laboratory confirmed COVID-19, covering 2020-2022, with approximately 350 fields per patient. To date, this database has been used in 16 published studies. Additionally, we assessed 700 adults 6 to 11 months after hospitalization through comprehensive, multidisciplinary in-person evaluations; this database, comprising around 2000 fields per subject, was used in 15 publications. Furthermore, thousands of blood samples collected during the acute phase and follow-up assessments remain stored for future investigations. To date, more than 3,700 aliquots have been used in ongoing research investigating various aspects of COVID-19. Lastly, the mapping of the overall research output revealed that between 2020 and 2022 our academic system produced 1,394 scientific articles on COVID-19.Discussion Research is a crucial component of an effective epidemic response, and the preparation process should include a well-defined plan for organizing and sharing resources. The initiatives described in the present paper were successful in our aim to foster large-scale research in our institution. Although a single model may not be appropriate for all contexts, cross-disciplinary collaboration and open data sharing should make health research systems more efficient to generate the best evidence.
Evaluation of pediatric diabetes mellitus after SARS-CoV-2 infection: A long-term prospective case series
(2023) FINK, Thais T.; CANTON, Ana P. M.; PEREIRA, Maria Fernanda B.; BAIN, Vera; MATSUO, Olivia; ASTLEY, Camilla; MARQUES, Heloisa H. S.; CORREA-SILVA, Simone; MONTENEGRO, Marilia M.; PALMEIRA, Patricia; GARANITO, Marlene P.; DUARTE, Alberto J. S.; CARNEIRO-SAMPAIO, Magda; LATRONICO, Ana C.; SILVA, Clovis A.
Mental health among children and adolescents after SARS-CoV-2 infection: A prospective study in a tertiary university hospital
(2023) MATSUO, Olivia Mari; LINDOSO, Livia; MARQUES, Heloisa Helena de Sousa; V, Guilherme Polanczyk; FARHAT, Sylvia Costa Lima; BAIN, Vera; FINK, Thais T.; MARTINS, Fernanda; ASTLEY, Camilla; SUGUITA, Priscila; TRINDADE, Vitor; CORREA-SILVA, Simone; PALMEIRA, Patricia; SANSON, Camila; PAULA, Yoshino de; LITVINOV, Nadia; FERREIRA, Juliana Caires O. A.; SAKITA, Neusa Keico; GUALANO, Bruno; SILVA, Clovis Artur A.; PEREIRA, Maria Fernanda Badue
Impaired cardiorespiratory fitness and endothelial function after SARS-CoV-2 infection in a sample of mainly immunocompromised youth
(2023) ASTLEY, Camilla; PRADO, Danilo Marcelo Leite do; SIECZKOWSKA, Sofia Mendes; ESTEVES, Gabriel P.; SUGUITA, Priscila; FINK, Thais; LINDOSO, Livia; MATSUO, Olivia; MARTINS, Fernanda; BAIN, Vera; PEREIRA, Maria Fernanda Badue; MARQUES, Heloisa Helena; MALLUF, Adriana; LEAL, Gabriela Nunes; SILVA, Clovis Artur; ROSCHEL, Hamilton; GUALANO, Bruno
This study aimed to compare cardiopulmonary fitness and endothelial function 6 months after hospital diagnosis in a sample mainly comprising immunocompromised patients with confirmed severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection versus noninfected controls. Youth (n = 30; age: 14 yr; 60% females) with confirmed SARS-CoV-2 seen in a tertiary hospital of Sao Paulo, Brazil, were matched by propensity score based on BMI, age, sex, and pre-existing diseases with a control group who had not been tested positive for SARS-CoV-2 infection (n = 30; age: 15 yr; 50% females). Cardiopulmonary fitness (by means of a cardiopulmonary exercise test: CPET) and brachial flow-mediated dilation (%b-FMD) were assessed 3-6 mo after diagnosis. Patients were matched by propensity score based on BMI, age, sex and pre-existing diseases, if any, with a control group who had not been tested positive for SARS-CoV-2. Compared with controls, patients with COVID-19 showed reduced ventilatory anaerobic threshold (VAT) and peak exercise time and minute ventilation/maximum voluntary ventilation (V_E/MVV) (all P < 0.01). Brachial endothelial function variables were all adjusted for body surface area (BSA). Patients with COVID-19 had decreased %b-FMD (3.6 vs. 5.4; P = 0.03) mean and positive flow (P = 0.02 and P = 0.03, respectively) versus controls. Adjusted linear regression models exploring associations between CPET variables, %b-FMD and the potential predictors post-COVID-19 syndrome, number of symptoms, hospitalization, and COVID severity did not detect significant associations, except for total shear rate in hospitalization (coefficient: -65.07 [95%CI -119.5;-10.5], P = 0.02). Immunocompromised and previously healthy children and adolescents with COVID-19 presented with impaired exercise capacity and endothelial dysfunction when compared with their noninfected counterparts, but the mechanisms remain unknown.
Risk factors for mortality in 1528 Brazilian childhood-onset systemic lupus erythematosus patients
(2023) SAKAMOTO, Ana P.; SILVA, Clovis A.; PITA, Ana C.; TRINDADE, Vitor C.; ISLABAO, Aline G.; FIOROT, Fernanda J.; LOPES, Sandra R. M.; PEREIRA, Rosa M. R.; SAAD-MAGALHAES, Claudia; RUSSO, Gleice C. S.; LEN, Claudio A.; PRADO, Rogerio do; CAMPOS, Lucia M. A.; AIKAWA, Nadia E.; APPENZELLER, Simone; FERRIANI, Virginia P. L.; SILVA, Marco F.; FELIX, Marta; FONSECA, Adriana R.; ASSAD, Ana P. L.; SZTAJNBOK, Flavio R.; SANTOS, Maria C.; BICA, Blanca E.; SENA, Evaldo G.; MORAES, Ana J.; FRAGA, Melissa M.; ROBAZZI, Teresa C.; SPELLING, Paulo F.; SCHEIBEL, Iloite M.; CAVALCANTI, Andre S.; MATOS, Erica N.; GUIMARAES, Luciano J.; SANTOS, Flavia P.; MOTA, Licia M. H.; BONFA, Eloisa; TERRERI, Maria T.
Objectives: To identify associations between mortality in cSLE patients and their characteristics: clinical and laboratory features, disease activity and damage scores, and treatment; to evaluate risk factors associated with mortality in cSLE; and to determine the most frequent causes of death in this group of patients.Methods: We performed a multicenter retrospective cohort using data from 1,528 cSLE patients followed in 27 pediatric rheumatology tertiary centers in Brazil. Patients' medical records were reviewed according to a standardized protocol, in which information regarding demographic and clinical features, disease activity and damage scores, and treatment were collected and compared between deceased cSLE patients and survivors. Univariate and multivariate analyses by Cox regression model were used to calculate risk factors for mortality, whereas survival rates were analyzed by Kaplan-Meier plots.Results: A total of 63/1,528 (4.1%) patients deceased, 53/63 were female (84.1%), median age at death was 11.9 (9.4-13.1) years and median time interval between cSLE diagnosis and death was 3.2 (0.5-5.3) years. Sepsis was the main cause of death in 27/63 (42.8%) patients, followed by opportunistic infections in 7/63 (11.1%), and alveolar hemorrhage in 6/63 (9.5%) patients. The regression models resulted in neuropsychiatric lupus (NP-SLE) (HR = 2.56, 95% CI = 1.48-4.42) and chronic kidney disease (CKD) (HR = 4.33, 95% CI = 2.33-4.72), as risk factors significantly associated with mortality. Overall patient survival after cSLE diagnosis at 5, 10, and 15 years were 97%, 95.4%, and 93.8%, respectively.Conclusions: This study confirmed that the recent mortality rate in cSLE in Brazil is low, but still of concern. NP-SLE and CKD were the main risk factors for mortality, indicating that the magnitude of these manifestations was significantly high.
Association between Serum Lactate and Morbidity and Mortality in Neonates: A Systematic Review and Meta-Analysis
(2023) MATSUSHITA, Felipe Yu; KREBS, Vera Lucia Jornada; CARVALHO, Werther Brunow De
Objective: Lactate is a marker of hypoperfusion in critically ill patients. Whether lactate is useful for identifying and stratifying neonates with a higher risk of adverse outcomes remains unknown. This study aimed to investigate the association between lactate and morbidity and mortality in neonates. Methods: A meta-analysis was performed to determine the association between blood lactate levels and outcomes in neonates. Ovid MEDLINE, EMBASE, Cochrane Library, and ClinicalTrials.gov were searched from inception to 1 May 2021. A total of 49 observational studies and 14 data accuracy test studies were included. The risk of bias was assessed using the Newcastle-Ottawa Scale for observational studies and the QUADAS-2 tool for data accuracy test studies. The primary outcome was mortality, while the secondary outcomes included acute kidney injury, necessity for renal replacement therapy, neurological outcomes, respiratory morbidities, hemodynamic instability, and retinopathy of prematurity. Results: Of the 3184 articles screened, 63 studies fulfilled all eligibility criteria, comprising 46,069 neonates. Higher lactate levels are associated with mortality (standard mean difference, -1.09 [95% CI, -1.46 to -0.73]). Using the estimated sensitivity (0.769) and specificity (0.791) and assuming a prevalence of 15% for adverse outcomes (median of prevalence among studies) in a hypothetical cohort of 10,000 neonates, assessing the lactate level alone would miss 346 (3.46%) cases (false negative) and wrongly diagnose 1776 (17.76%) cases (false positive). Conclusions: Higher lactate levels are associated with a greater risk of mortality and morbidities in neonates. However, our results do not support the use of lactate as a screening test to identify adverse outcomes in newborns. Research efforts should focus on analyzing serial lactate measurements, rather than a single measurement.
Identifying two distinct subphenotypes of patent ductus arteriosus in preterm infants using machine learning
(2023) MATSUSHITA, Felipe Yu; KREBS, Vera Lucia Jornada; CARVALHO, Werther Brunow de
To use unsupervised machine learning to identify potential subphenotypes of preterm infants with patent ductus arteriosus (PDA). The study was conducted retrospectively at a neonatal intensive care unit in Brazil. Patients with a gestational age < 28 weeks who had undergone at least one echocardiogram within the first two weeks of life and had PDA size > 1.5 or LA/AO ratio > 1.5 were included. Agglomerative hierarchical clustering on principal components was used to divide the data into different clusters based on common characteristics. Two distinct subphenotypes of preterm infants with hemodynamically significant PDA were identified: ""inflamed,"" characterized by high leukocyte, neutrophil, and neutrophil-to-lymphocyte ratio, and ""respiratory acidosis,"" characterized by low pH and high pCO(2) levels. Conclusions: This study suggests that there may be two distinct subphenotypes of preterm infants with hemodynamically significant PDA: ""inflamed"" and ""respiratory acidosis."" By dividing the population into different subgroups based on common characteristics, it is possible to get a more nuanced understanding of the effectiveness of PDA interventions. What is Known: Treatment of PDA in preterm infants has been controversial. Stratification of preterm infants with PDA into subgroups is important in order to determine the best treatment. What is New: Unsupervised machine learning was used to identify two subphenotypes of preterm infants with hemodynamically significant PDA. The 'inflamed' cluster was characterized by higher values of leukocyte, neutrophil, and neutrophil-to-lymphocyte ratio. The 'respiratory acidosis' cluster was characterized by lower pH values and higher pCO2 values.
Clinical Aspects and Etiologic Investigation of Pediatric Patients With Acute Liver Failure
(2023) LUGLIO, Michele; MARQUES, Tatiana de Carvalho Silva; PEREIRA, Maria Fernanda Badue; DELGADO, Artur Figueiredo; CARVALHO, Werther Brunow de; TANNURI, Ana Cristina Aoun; SANDY, Natascha Silva; LITVINOV, Nadia; PAULA, Camila Sanson Yoshino de; SANTOS, Ariane Guissi dos; LAZARI, Carolina dos Santos; GOUVEA, Michele Soares Gomes; PAULA, Anderson Vicente de; MENDOZA, Tania Regina Tozetto; TANIGAWAH, Ryan Yukimatsu; LIMAH, Fabiana Roberto; HIRAYAMAH, Andre Bubna; SANTOS, Isabela Gusson Galdino dos; PINHOG, Joao Renato Rebello; SABINOG, Ester Cerdeira; MENDES-CORREAHG, Maria Cassia; ALVESH, Venancio Avancini Ferreira; MARQUESC, Heloisa Helena de Sousa
A new outbreak of hepatitis of unknown origin raised awareness in the international community. A few reports have attempted to associate new cases with adenovirus infection and the immunologic effects of previous SARS-CoV-2 infections through a superantigen mechanism. Moreover, according to a case series, viral isolates were identified in 7 of 10 cases of pediatric patients with hepatitis of unknown origin and acute liver failure. Adenovirus was detected by respiratory secretion polymerase chain reaction in 2 patients, with neither presenting with SARS-CoV-2 acute infection. Clinical and laboratory descriptions and cross-referencing epidemiologic and pathophysiological data can help identify possible disease etiologies.
A Remote Parenting Program and Parent and Staff Perspectives: A Randomized Trial
(2023) SMITH, Joanne A.; CHANG, Susan M.; BRENTANI, Alexandra; FINK, Gunther; LOPEZ-BOO, Florencia; TORINO, Belen Michel; CODINA, Marta Rubio; WALKER, Susan P.
OBJECTIVES: To assess impact and implementation of remote delivery of a parenting program following suspension of in-person visits during the coronavirus disease 2019 pandemic. METHODS: Impact of remote delivery of the Reach Up parenting program on parenting practices was evaluated by randomized trial in Jamaica. Mothers with children aged 5 to 24 months who met 1 of 7 at-risk criteria were enrolled at health centers. Participants were randomly assigned to intervention or control using random number tables generated by a statistician. Intervention comprised a manual for parents with illustrated play activities, phone calls, and short message service messages. The control group received usual care. Parent practices were measured using an adapted Family Care Indicators telephone-administered questionnaire by interviewers unaware of group assignment. Qualitative interviews were conducted with staff and parents in Jamaica and Brazil and staff in Ecuador to identify facilitators and barriers to remote delivery of Reach Up. RESULTS: Two hundred forty-seven participants were assessed at endline (control n = 130; intervention n = 117). Intervention increased parent activities that support child development, effect size 0.34 SD (95% confidence interval 0.03-0.53), and use of praise, odds 2 times higher with intervention. There were no benefits to interactive language or play materials. Qualitative results showed parents appreciated program continuation and felt motivated to help their child, and methods were acceptable to staff. Barriers included poor mobile phone access, difficulty contacting parents, and feedback limitations without in-person contact. CONCLUSIONS: Remote delivery methods have potential to contribute to scaling of parenting programs.
Stroke in vascular Ehlers-Danlos syndrome
(2023) MARTINS, Rebecca Ranzani; PAIVA, Mauricio Leonardo da Silva; TEIXEIRA, Weverton Carlos da Silva; KAWAHIRA, Rachel Sayuri Honjo; FREUA, Fernando; CASTRO, Matheus Augusto Araujo; KIM, Chong Ae; KOK, Fernando
Acute and subchronic exposure to urban atmospheric pollutants aggravate acute respiratory failure in infants
(2023) NETO, Amanda Barbosa; FERRARO, Alexandre A.; VIEIRA, Sandra E.
Urban air pollution is a major factor that affects the respiratory health of children and adolescents. Less studied is exposure during the first two years of life. This study analyzed the influence of acute and subchronic exposure to urban air pollutants on the severity of acute respiratory failure (ARF) in the first two years of life. This population-based study included 7364 infants hospitalized with ARF. Acute exposure was considered to have occurred 1, 3 and 7 days before hospitalization and subchronic exposure was considered the mean of the last 30 and 60 days. We found that for acute exposure, significant increases in days of hospitalization (LOS) occurred at lag 1 day for NO2 (0.24), SO2 (6.64), and CO (1.86); lag 3 days for PM10 (0.30), PM2.5 (0.37), SO2 (10.8), and CO (0.71); and lag 7 days for NO2 (0.16), SO2 (5.07) and CO (0.87). Increases in the risk of death occurred at lag 1 day for NO2 (1.06), SO2 (3.64), and CO (1.28); and lag 3 days for NO2 (1.04), SO2 (2.04), and CO (1.19). Subchronic exposures at 30 and 60 days occurred for SO2 (9.18, 3.77) and CO (6.53, 2.97), respectively. The associations were more pronounced with higher temperatures and lower relative humidity levels. We concluded that acute and subchronic exposure to higher atmospheric concentrations of all the pollutants studied were associated with greater severity of ARF. The greatest increases in LOS and risk of death occurred with hot and dry weather.
Prolactin does not seem to mediate the improvement on insulin resistance markers and blood glucose levels related to breastfeeding
(2023) OLIVEIRA, Julia Martins de; DUALIB, Patricia Medici; FERRARO, Alexandre Archanjo; CARVALHO, Camila Rodrigues de Souza; MATTAR, Rosiane; DIB, Sergio Atala; ALMEIDA-PITITTO, Bianca de
Introduction: The prevalence of type 2 diabetes mellitus (T2DM) is increasing worldwide. Strategies to decrease this risk should be strongly encouraged. Lactation has been associated, for the mother, with reduction in future T2DM risk in several studies. The mechanisms behind this phenomenon, however, are poorly understood. The aims of this study were, first, to compare blood glucose levels and markers of insulin resistance (MIR) in early postpartum women with overweight/obesity according to their breastfeeding status and, second, to evaluate whether prolactin (PRL) levels could mediate improvements in these parameters. Methods: The prospective study followed 95 women older than 18 years from early pregnancy for up to 60 to 180 days postpartum. All participants had a BMI > 25 kg/m2 and a singleton pregnancy. At each visit, questionnaires and clinical and biochemical evaluations were performed. Participants were divided into two groups according to the breastfeeding status as ""yes"" for exclusive or predominant breastfeeding, and ""no"" for not breastfeeding. Results: Breastfeeding women (n = 44) had significantly higher PRL levels [47.8 (29.6-88.2) vs. 20.0 (12.0-33.8), p< 0.001]. They also had significantly lower fasting blood glucose levels [ 89.0 (8.0) vs. 93.9 (12.6) mg/dl, p = 0.04], triglycerides (TG) [92.2 (37.9) vs. 122.4 (64.4) mg/dl, p = 0.01], TG/HDL ratio [1.8 (0.8) vs. 2.4 (1.6) mg/dl, p = 0.02], TyG index [8.24 (0.4) vs. 8.52 (0.53), p = 0.005], fasting serum insulin [8.9 (6.3-11.6) vs. 11.4 (7.7-17.0), p = 0.048], and HOMA-IR [2.0 (1.3-2.7) vs. 2.6 (1.6-3.9), p = 0.025] in the postpartum period compared to the non-breastfeeding group. Groups were homogeneous in relation to prevalence of GDM, pre-gestational BMI, as well as daily caloric intake, physical activity, and weight loss at postpartum. Linear regression analysis with adjustments for confounders showed a statistically significant association of breastfeeding with fasting blood glucose [-6.37 (-10.91 to -1.83), p = 0.006], HOMA-IR [-0.27 (-0.51 to -0.04), p = 0.024], TyG index [-0.04 (-0.06 to -0.02), p = 0.001], and TG/HDL ratio [-0.25 (-0.48 to -0.01), p = 0.038]. Mediation analysis showed that PRL did not mediate these effects. Sensitivity analyses considering different cutoffs for PRL levels also did not show modification effect in the mediation analyses. Conclusion: Breastfeeding was associated with improvement in glucose metabolism and MIR 60 to 180 days after birth in overweight and obese women, even when adjusted for confounders. PRL levels were not found to mediate the association between breastfeeding and improvement in MIR.

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