SANDRO FELIX PERAZZIO
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
LIM/56 - Laboratório de Investigação em Dermatologia e Imunodeficiências, Hospital das Clínicas, Faculdade de Medicina
LIM/03 - Laboratório de Medicina Laboratorial, Hospital das Clínicas, Faculdade de Medicina
LIM/56 - Laboratório de Investigação em Dermatologia e Imunodeficiências, Hospital das Clínicas, Faculdade de Medicina
LIM/03 - Laboratório de Medicina Laboratorial, Hospital das Clínicas, Faculdade de Medicina
9 resultados
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- Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients(2022) QUAIO, Caio Robledo D'Angioli Costa; MOREIRA, Caroline Monaco; CHUNG, Christine Hsiaoyun; PERAZZIO, Sandro Felix; DUTRA, Aurelio Pimenta; KIM, Chong AeBackground Several metabolic disorders follow an autosomal recessive inheritance pattern. Epidemiological information on these disorders is usually limited in developing countries. Our objective is to assess carrier frequencies of rare autosomal recessive metabolic diseases in a cohort of Brazilian patients that underwent molecular investigation with exome sequencing and estimate the overall frequency of these diseases using the Hardy-Weinberg equation. Methods and results We reviewed the molecular findings of 320 symptomatic patients who had carrier status for recessive diseases actively searched. A total of 205 rare variants were reported in 138 different genes associated with metabolic diseases from 156 patients, which represents that almost half (48.8%) of the patients were carriers of at least one heterozygous pathogenic/likely pathogenic (P/LP) variant for rare metabolic disorders. Most of these variants are harbored by genes associated with multisystemic involvement. We estimated the overall frequency for rare recessive metabolic diseases to be 10.96/10,000 people, while the frequency of metabolic diseases potentially identified by newborn screening was estimated to be 2.93/10,000. Conclusions This study shows the potential research utility of exome sequencing to determine carrier status for rare metabolic diseases, which may be a possible strategy to evaluate the clinical and social burden of these conditions at the population level and guide the optimization of health policies and newborn screening programs.
- Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients(2021) QUAIO, Caio Robledo D'Angioli Costa; CHUNG, Christine Hsiaoyun; PERAZZIO, Sandro Felix; DUTRA, Aurelio Pimenta; MOREIRA, Caroline Monaco; NOVO FILHO, Gil Monteiro; SACRAMENTO-BOBOTIS, Patricia Rossi; PENNA, Michele Groenner; SOUZA, Rafaela Rogerio Floriano de; CINTRA, Vivian Pedigone; CARNAVALLI, Juliana Emilia Prior; SILVA, Rafael Alves da; PAIXAO, Daniele; BARATELA, Wagner Antonio da Rosa; OLIVATI, Caroline; SPOLADOR, Gustavo Marquezani; SANTOS, Monize Nakamoto Provisor; PINTAO, Maria Carolina; FORNARI, Alexandre Ricardo dos Santos; BURGER, Matheus; RAMALHO, Rodrigo Fernandes; PEREIRA, Otavio Jose Eulalio; FERREIRA, Elisa Napolitano; MITNE-NETO, Miguel; KIM, Chong AeSeveral Mendelian disorders follow an autosomal recessive inheritance pattern. Epidemiological information on many inherited disorders may be useful to guide health policies for rare diseases, but it is often inadequate, particularly in developing countries. We aimed to calculate the carrier frequencies of rare autosomal recessive Mendelian diseases in a cohort of Brazilian patients using whole exome sequencing (WES). We reviewed the molecular findings of WES from 320 symptomatic patients who had carrier status for recessive diseases. Using the Hardy-Weinberg equation, we estimated recessive disease frequencies (q(2)) considering the respective carrier frequencies (2pq) observed in our study. We calculated the sensitivity of carrier screening tests based on lists of genes from five different clinical laboratories that offer them in Brazil. A total of 425 occurrences of 351 rare variants were reported in 278 different genes from 230 patients (71.9%). Almost half (48.8%) were carriers of at least one heterozygous pathogenic/likely pathogenic variant for rare metabolic disorders, while 25.9% of epilepsy, 18.1% of intellectual disabilities, 15.6% of skeletal disorders, 10.9% immune disorders, and 9.1% of hearing loss. We estimated that an average of 67% of the variants would not have been detected by carrier screening panels. The combined frequencies of autosomal recessive diseases were estimated to be 26.39/10,000 (or similar to 0.26%). This study shows the potential research utility of WES to determine carrier status, which may be a possible strategy to evaluate the clinical and social burden of recessive diseases at the population level and guide the optimization of carrier screening panels.
- Patient with agammaglobulinemia produces anti-SARS-CoV-2 reactive T-cells after CoronaVac vaccine(2022) OSHIRO, Telma Miyuki; SILVA, Lais Teodoro da; ORTEGA, Marina Mazzilli; PERAZZIO, Sandro Felix; DUARTE, Alberto Jose da Silva; CARNEIRO-SAMPAIO, Magda
- Immunothrombosis and COVID-19-a nested post-hoc analysis from a 3186 patient cohort in a Latin American public reference hospital(2023) LIMA, Clarice Antunes de; GONCALVES, Fabio Augusto Rodrigues; BESEN, Bruno Adler Maccagnan Pinheiro; PEREIRA, Antonio Jose Rodrigues; PERAZZIO, Sandro Felix; TRINDADE, Evelinda Marramon; FONSECA, Luiz Augusto Marcondes; SUMITA, Nairo Massakazu; PINTO, Vanusa Barbosa; DUARTE, Alberto Jose da Silva; MANIN, Carolina Broco; LICHTENSTEIN, ArnaldoObjective: COVID-19 is associated with an elevated risk of thromboembolism and excess mortality. Difficulties with best anticoagulation practices and their implementation motivated the current analysis of COVID-19 patients who developed Venous Thromboembolism (VTE). Method: This is a post-hoc analysis of a COVID-19 cohort, described in an economic study already published. The authors analyzed a subset of patients with confirmed VTE. We described the characteristics of the cohort, such as demographics, clinical status, and laboratory results. We tested differences amid two subgroups of patients, those with VTE or not, with the competitive risk Fine and Gray model. Results: Out of 3186 adult patients with COVID-19, 245 (7.7%) were diagnosed with VTE, 174 (5.4%) of them dur-ing admission to the hospital. Four (2.3% of these 174) did not receive prophylactic anticoagulation and 19 (11%) discontinued anticoagulation for at least 3 days, resulting in 170 analyzed. During the first week of hospitaliza-tion, the laboratory most altered results were C-reactive protein and D-dimer. Patients with VTE were more criti-cal, had a higher mortality rate, worse SOFA score, and, on average, 50% longer hospital stay. Conclusion: Proven VTE incidence in this severe COVID-19 cohort was 7.7%, despite 87% of them complying completely with VTE prophylaxis. The clinician must be aware of the diagnosis of VTE in COVID-19, even in patients receiving proper prophylaxis.
- Use and misuse of biomarkers and the role of D-dimer and C-reactive protein in the management of COVID-19: A post-hoc analysis of a prospective cohort study(2021) GONCALVES, Fabio Augusto Rodrigues; BESEN, Bruno Adler Maccagnan Pinheiro; LIMA, Clarice Antunes de; CORA, Aline Pivetta; PEREIRA, Antonio Jose Rodrigues; PERAZZIO, Sandro Felix; GOUVEA, Christiane Pereira; FONSECA, Luiz Augusto Marcondes; TRINDADE, Evelinda Marramon; SUMITA, Nairo Massakazu; DUARTE, Alberto Jose da Silva; LICHTENSTEIN, ArnaldoOBJECTIVE: Coronavirus disease 2019 (COVID-19) is associated with high mortality among hospitalized patients and incurs high costs. Severe acute respiratory syndrome coronavirus 2 infection can trigger both inflammatory and thrombotic processes, and these complications can lead to a poorer prognosis. This study aimed to evaluate the association and temporal trends of D-dimer and C-reactive protein (CRP) levels with the incidence of venous thromboembolism (VTE), hospital mortality, and costs among inpatients with COVID-19. METHODS: Data were extracted from electronic patient records and laboratory databases. Crude and adjusted associations for age, sex, number of comorbidities, Sequential Organ Failure Assessment score at admission, and D-dimer or CRP logistic regression models were used to evaluate associations. RESULTS: Between March and June 2020, COVID-19 was documented in 3,254 inpatients. The D-dimer level >= 4,000 ng/mL fibrinogen equivalent unit (FEU) mortality odds ratio (OR) was 4.48 (adjusted OR: 1.97). The CRP level >= 220 mg/dL OR for death was 7.73 (adjusted OR: 3.93). The D-dimer level >= 4,000 ng/mL FEU VTE OR was 3.96 (adjusted OR: 3.26). The CRP level >= 220 mg/dL OR for VTE was 2.71 (adjusted OR: 1.92). All these analyses were statistically significant (p <0.001). Stratified hospital costs demonstrated a dose-response pattern. Adjusted D-dimer and CRP levels were associated with higher mortality and doubled hospital costs. In the first week, elevated D-dimer levels predicted VTE occurrence and systemic inflammatory harm, while CRP was a hospital mortality predictor. CONCLUSION: D-dimer and CRP levels were associated with higher hospital mortality and a higher incidence of VTE. D-dimer was more strongly associated with VTE, although its discriminative ability was poor, while CRP was a stronger predictor of hospital mortality. Their use outside the usual indications should not be modified and should be discouraged.
- Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases(2022) QUAIO, Caio Robledo D'Angioli Costa; CERONI, Jose Ricardo Magliocco; CERVATO, Murilo Castro; THUROW, Helena Strelow; MOREIRA, Caroline Monaco; TRINDADE, Ana Carolina Gomes; FURUZAWA, Cintia Reys; SOUZA, Rafaela Rogerio Floriano de; PERAZZIO, Sandro Felix; DUTRA, Aurelio Pimenta; CHUNG, Christine Hsiaoyun; KIM, Chong AeGenomic studies may generate massive amounts of data, bringing interpretation challenges. Efforts for the differentiation of benign and pathogenic variants gain importance. In this article, we used segregation analysis and other molecular data to reclassify to benign or likely benign several rare clinically curated variants of autosomal dominant inheritance from a cohort of 500 Brazilian patients with rare diseases. This study included only symptomatic patients who had undergone molecular investigation with exome sequencing for suspected diseases of genetic etiology. Variants clinically suspected as the causative etiology and harbored by genes associated with highly-penetrant conditions of autosomal dominant inheritance underwent Sanger confirmation in the proband and inheritance pattern determination because a ""de novo"" event was expected. Among all 327 variants studied, 321 variants were inherited from asymptomatic parents. Considering segregation analysis, we have reclassified 51 rare variants as benign and 211 as likely benign. In our study, the inheritance of a highly penetrant variant expected to be de novo for pathogenicity assumption was considered as a non-segregation and, therefore, a key step for benign or likely benign classification. Studies like ours may help to identify rare benign variants and improve the correct interpretation of genetic findings.
- Exome sequencing of 500 Brazilian patients with rare diseases: what we have learned(2022) QUAIO, Caio Robledo D'Angioli Costa; MOREIRA, Caroline Monaco; CHUNG, Christine Hsiaoyun; PERAZZIO, Sandro Felix; DUTRA, Aurelio Pimenta; KIM, Chong Ae
conferenceObject Anti-SARS-CoV-2 reactive T cells in a XLA patient after CoronaVac vaccine(2022) SILVA, Lais Teodoro da; ORTEGA, Marina Mazzilli; PERAZZIO, Sandro Felix; OSHIRO, Telma Miyuki; DUARTE, Alberto Jose da Silva; CARNEIRO-SAMPAIO, MagdabookPart Doenças autoinflamatórias nas crianças(2023) NASCIMENTO, Renan R. N. R. do; KOZU, Katia Tomie; PERAZZIO, Sandro Félix