Augusto Cezar Santomauro Junior

@diabetesgeneticousp.com

Disciplina de Endocrinologia e Metabologia
Universidade de São Paulo

Augusto Cezar Santomauro Junior


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https://researchid.co/asantomauro

RESEARCH, TEACHING, or OTHER INTERESTS

Endocrinology, Diabetes and Metabolism, Genetics (clinical)
6

Scopus Publications

170

Scholar Citations

7

Scholar h-index

5

Scholar i10-index

Scopus Publications

  • Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia
    Pedro Campos Franco, Augusto Cezar Santomauro Jr, Aline Dantas Costa-Riquetto, Lucas Santos de Santana, Larissa Garcia Gomes, Alexander Augusto de Lima Jorge, Milena Gurgel Teles
    Communications Medicine, 2025
    To improve the precision of molecular diagnosis by means of a comprehensive bidirectional phenotypic and genotypic reanalysis in cases of unresolved monogenic diabetes previously investigated using a targeted next-generation sequencing (tNGS) panel. Molecular and clinical data from 128 unresolved cases referred between 2011 and 2019 were analyzed. These included 92 cases of suspected maturity-onset diabetes of the young (MODY), 12 of neonatal diabetes, 16 of familial partial lipodystrophy (FPLD), 7 of mitochondrial diabetes, and 1 of Wolfram syndrome. All cases were initially investigated using a tNGS panel consisting of 51 nuclear genes and the complete mitochondrial genome. This extensive reanalysis process increases molecular diagnosis from 9 to 22%. Phenotypic reevaluation, entailing in-depth phenotyping, is instrumental in excluding 62 atypical cases (48.4%). Genotypic reanalysis identifies 5 previously overlooked molecular defects: two mutations in regulatory regions (one in the HNF1A promoter and another in the PTF1A enhancer); one in the MTTK mitochondrial gene; one in the MFN2 gene; and one in the GCK gene. Our findings indicate that a combined approach of genotypic and, mainly, phenotypic reanalysis is an effective strategy for improving the accuracy of molecular diagnosis in individuals with suspected monogenic diabetes. Some people develop diabetes early in life due to inherited genetic conditions. However, identifying the exact cause can be difficult, and many people remain without a diagnosis after initial testing. In this study, researchers revisited the medical and genetic data of 128 individuals who were previously suspected to have a genetic form of diabetes but remained undiagnosed. By combining updated genetic tools with detailed clinical review, they were able to provide new diagnoses for some and rule out inherited diabetes in others. Because knowledge in genetics evolves rapidly, this study highlights the importance of reanalyzing past test results over time. Doing so can lead to more accurate diagnoses and better care for individuals and families affected by early-onset diabetes. Franco et al. perform a combined phenotypic and genotypic reanalysis of unresolved 128 monogenic diabetes cases. Their approach increases diagnostic yield and highlights the key role of deep phenotyping in previously overlooked cases, and provides a diagnosis for suspected cases.
  • Screening and management of hospital hyperglycemia in non-critical patients: a position statement from the Brazilian Diabetes Society (SBD)
    Emerson Cestari Marino, Denise Momesso, Marcos Tadashi Kakitani Toyoshima, Maria Fernanda Ozorio de Almeida, Beatriz D. Schaan, Leandra Anália Freitas Negretto, Augusto Cezar Santomauro Junior, Priscilla Cukier, Paulo Roberto Rizzo Genestreti, Alina Coutinho Rodrigues Feitosa, Jorge Eduardo da Silva Soares Pinto, Rogerio Silicani Ribeiro, Rodrigo Nunes Lamounier, Ruy Lyra, Marcello Casaccia Bertoluci
    Diabetology and Metabolic Syndrome, 2025
    Background Hospital Hyperglycemia (HH) is linked to poorer outcomes, including higher mortality rates, increased ICU admissions, and extended hospital stays, and occurs in both people living with diabetes or not. The prevalence of HH in non-critical patients ranges from 22 to 46%. This panel reviewed the evidence and made recommendations for the best care for hospitalized hyperglycemic patients, with or without diabetes mellitus. Methods The methodology was published previously and was defined by the internal institutional steering committee. The SBD Acute and Hospital Complications Department drafted the manuscript, selecting key clinical questions for a narrative review using MEDLINE via PubMed. The best available evidence was reviewed, including randomized clinical trials (RCTs), meta-analyses, and high-quality observational studies related to Hospital Hyperglycemia. Results and conclusions The department members and external experts developed 23 recommendations for the management of patients with HH, including screening, initial interventions, treatment adjustments, and care for potential complications. Based on the best available evidence, our article provides safe and effective management strategies for both public and private healthcare settings.
  • Phenotypic and molecular reanalysis of a cohort of patients with monogenic diabetes reveals a case of partial lipodystrophy due to the a8344g mutation in the mitochondrial dna
    Pedro Campos Franco, Michelle Patrocinio, Aline Dantas Costa-Riquetto, Augusto Cezar Santomauro, Larissa Garcia Gomes, Milena G. Teles
    Archives of Endocrinology and Metabolism, 2024
    Familial partial lipodystrophy (FPLD) is a very rare genetic disease characterized by insulin resistance due to a loss of subcutaneous fat from the extremities together with a progressive storage of fat around the face and neck and inside the abdomen. In over 50% of cases, molecular genetic testing reveals pathogenic variants in two nuclear genes, LMNA and PPARG. The case reported here refers to a woman phenotypically diagnosed with FPLD, who presented with diabetes and multiple cervical lipomatosis and in whom no variant had been found in the nuclear genes classically associated with this syndrome that could explain her phenotype. Genetic sequencing using a target panel containing 48 nuclear genes related to monogenic diabetes plus the whole mitochondrial genome revealed the mitochondrial variant m.A8344G in 84.1% heteroplasmy. Following molecular diagnosis, her phenotype was expanded with the recognition of additional clinical characteristics: mild sensorineural hearing loss, proximal myopathy, fatigue, cognitive impairment, sensory ataxia, cardiac abnormalities and, finally, muscle biopsy findings compatible with mitochondrial disease. Therefore, careful and detailed phenotypic and genotypic reanalysis proved crucial in improving molecular diagnosis in FPLD.
  • The performance of the MODY calculator in a non-Caucasian, mixed-race population diagnosed with diabetes mellitus before 35 years of age
    Augusto Cezar Santomauro, Áurea Luiza Fernandes Magalhães, Flávia Tedesco Motta, Lucas Santos de Santana, Pedro Campos Franco, Silvia Maria de Freitas, Jeniffer Johana Duarte Sanchez, Aline Dantas Costa-Riquetto, Milena G. Teles
    Diabetology and Metabolic Syndrome, 2023
    Background A maturity-onset diabetes of the young (MODY) calculator has been described and validated for use in European Caucasians. This study evaluated its performance in Brazilians diagnosed with diabetes mellitus (DM) before 35 years of age. Methods The electronic records of 391 individuals were reviewed in 2020 at the diabetes clinic of a quaternary hospital in São Paulo were analyzed: 231 with type 1 DM (T1DM), 46 with type 2 (T2DM) and 114 with MODY. The MODY calculator was applied to the three groups. A receiver operating characteristic curve was calculated to obtain cut-off points for this population. Results The principal differences between the MODY and the T1DM and T2DM groups were body mass index, a positive family history of diabetes and mean HbA1c level. Age at diagnosis in the MODY group was only significantly different compared to the T2DM group. Specificity and sensitivity were good for the cut-off points of 40%, 50% and 60%, with the accuracy of the model for any of these cut-off points being > 95%. Conclusion The capacity of the calculator to identify Brazilian patients with MODY was good. Values ≥ 60% proved useful for selecting candidates for MODY genetic testing, with good sensitivity and specificity.
  • Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil
    Aline Dantas Costa‐Riquetto, Lucas Santos de Santana, Pedro Campos Franco, Augusto Cezar Santomauro Jr, Artur Eduardo Martio, Hugo Roberto Kurtz Lisboa, Suely Keiko Kohara, Milena G. Teles
    Clinical Genetics, 2023
    Neonatal diabetes mellitus (NDM) is defined as the occurrence of severe hyperglycemia in infants under 6 months old and may be permanent (PNDM) or transient (TNDM). When diabetes is diagnosed at 6–12 months of age (early onset diabetes [EOD]), the etiology may be monogenic; however, most cases consist of type 1 diabetes mellitus (T1DM). Molecular diagnosis was determined in a cohort of 35 unrelated Brazilian patients with NDM or EOD based on targeted next‐generation sequencing panel and/or chromosome 6q24 abnormalities. The impact of genetic testing on treatment and follow‐up was evaluated. Overall, 24 patients had NDM: with 18 (75.0%) having PNDM, 5 TNDM (20.8%) and 1 case in which this information was unknown. Eleven patients had EOD. Genetic testing was positive in 20/24 patients with NDM (83.3%) and in 18.2% of cases of EOD. The commonest causes were ATP‐sensitive potassium (KATP) channel genes, and GCK and IPEX mutations (37.1%, 11.4% and 5.7%, respectively). Patients with PNDM due to KCNJ11 and ABCC8 mutations transitioned successfully to sulfonylureas in almost 60% of cases, reinforcing the benefit of performing genetic testing in NDM as early as possible. This report refers to the largest series of cases of NDM (TNDM and PNDM) and EOD in Brazil in which patients were submitted to molecular investigation and in which the clinical impact of genetic diagnosis was also evaluated.
  • Metformin and AMPK: An old drug and a new enzyme in the context of metabolic syndrome
    Augusto Cézar Santomauro Jún, Michelle Remião Ugolini, Ana Teresa Santomauro, Ricardo Peres do Souto
    Arquivos Brasileiros De Endocrinologia E Metabologia, 2008
    A metformina é uma das drogas antidiabéticas orais mais prescritas mundialmente, entretanto seu mecanismo de ação permanece desconhecido. Os estudos do Diabetes Prevention Program Research Group demonstraram que tanto a administração de metformina como a mudança no estilo de vida (dieta e exercício físico) podem reduzir a incidência de diabetes melito tipo 2 (DM2). Uma possível conexão bioquímica entre essas duas terapias pode ser a proteína quinase ativada por AMP (AMPK). Essa enzima foi inicialmente descrita como um sensor energético celular, sendo ativada pelo exercício físico. Por outro lado, várias evidências experimentais indicam que a AMPK seja um alvo importante da ação da metformina. Este artigo discute as várias formas da regulação da AMPK, sugerindo um possível mecanismo para sua ativação pela metformina que envolve a formação de espécies reativas de nitrogênio. A ativação da AMPK determina ampla variedade de efeitos fisiológicos, incluindo o aumento da captação de glicose pelos músculos esqueléticos e aumento do catabolismo de lipídios, podendo ser interessante não apenas na prevenção e tratamento do DM2, mas também no contexto da síndrome metabólica. A descoberta da ativação da AMPK pela metformina faz dessa enzima importante alvo farmacológico.

RECENT SCHOLAR PUBLICATIONS

  • Hyperinsulinemic hypoglycemia due to pathogenic INSR variants: metabolic signature, phenotypic overlap, and semidominant inheritance
    R Marcelino Do Nascimento, A dos Santos, D Guadagnini, LS de Santana, ...
    Frontiers in Endocrinology 17, 1716020 , 2026
    2026
  • 56-PUB: Phenotypic Variability in a Brazilian Family with MODY Diabetes Due to ABCC8 Gene Mutation
    AC SANTOMAURO JUNIOR, AD Costa-Riquetto, TG Amorim, ...
    Diabetes 74 (Supplement_1), 56-PUB , 2025
    2025
  • Screening and management of hospital hyperglycemia in non-critical patients: a position statement from the Brazilian Diabetes Society (SBD)
    EC Marino, D Momesso, MTK Toyoshima, MFO de Almeida, BD Schaan, ...
    Diabetology & Metabolic Syndrome 17 (1), 54 , 2025
    2025
    Citations: 7
  • Phenotypic and molecular reanalysis of a cohort of patients with monogenic diabetes reveals a case of partial lipodystrophy due to the A8344G mutation in the mitochondrial DNA
    PC Franco, M Patrocinio, AD Costa-Riquetto, AC Santomauro, LG Gomes, ...
    Archives of Endocrinology and Metabolism 68, e230084 , 2024
    2024
    Citations: 1
  • 1881-LB: Inpatient Hyperglycemia—How to Overcome This Challenge
    AC SANTOMAURO JUNIOR, ACMR Palmieri, J Correia, ...
    Diabetes 73 (Supplement_1), 1881-LB , 2024
    2024
  • 1977-LB: Successful Occurrence of Two Separate Pregnancies in a Patient with Congenital Generalized Lipodystrophy Due to Homozygous AGPAT2 Mutations without Recombinant Leptin …
    AC SANTOMAURO JUNIOR, PC Franco, AD Costa-Riquetto, AA Jorge, ...
    Diabetes 73 (Supplement_1), 1977-LB , 2024
    2024
    Citations: 1
  • Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil
    AD Costa‐Riquetto, LS de Santana, PC Franco, ACS Jr, AE Martio, ...
    Clinical genetics 103 (4), 434-447 , 2023
    2023
    Citations: 8
  • The performance of the MODY calculator in a non-Caucasian, mixed-race population diagnosed with diabetes mellitus before 35 years of age
    AC Santomauro Jr, ÁLF Magalhães, FT Motta, LS de Santana, PC Franco, ...
    Diabetology & Metabolic Syndrome 15 (1), 15 , 2023
    2023
    Citations: 11
  • The performance of the MODY calculator in a non-Caucasian, mixed-race population diagnosed with diabetes mellitus before age 35 years
    ACS Junior, ÁLF Magalhães, FT Motta, LS Santana, PC Franco, ...
    2022
  • Clinical and genetic characterization and long-term evaluation of individuals with maturity-onset diabetes of the young (MODY): the journey towards appropriate treatment
    PC Franco, LS de Santana, AD Costa-Riquetto, ACS Junior, AAL Jorge, ...
    Diabetes research and clinical practice 187, 109875 , 2022
    2022
    Citations: 13
  • DIABETES MELLITUS E DOENÇAS UROLÓGICAS. EFEITOS DAS DROGAS HIPOGLICEMIANTES
    AC SANTOMAURO JÚNIOR, AT Santomauro
    REVISTA URO ABC 10, 37-40 , 2020
    2020
  • Targeted sequencing identifies novel variants in common and rare MODY genes
    LS de Santana, LA Caetano, AD Costa‐Riquetto, PC Franco, RP Dotto, ...
    Molecular Genetics & Genomic Medicine 7 (12), e962 , 2019
    2019
    Citations: 45
  • Study of the Variability of Heart Rate in Type 2 Diabetes Mellitus Patients with Diabetic Autonomic Neuropathy
    AC Santomauro Junior, BMG Mascarenhas, REMR Ramiro, C Nagaoka, ...
    DIABETES 64, A394-A394 , 2015
    2015
  • A New Proposal for the Treatment of Patients with Diabetic Foot-Photodynamic Therapy
    AC Santomauro Junior, JP Tardivo, BMG Mascarenhas, REMR Ramiro, ...
    Diabetes 64, A185-A186 , 2015
    2015
    Citations: 6
  • Role of Circulating Free Fatty Acids on Insulin Resistance in Chronic Endogenous Hypercortisolism (Cushing's Disease)
    AC Santomauro Junior, ATMG Santomauro, BMG Mascarenhas, ...
    AMER DIABETES ASSOC , 2015
    2015
  • LA de. O ato de ler: possibilidades e perspectivas para ensino de literatura no Ensino Médio
    SÁ JÚNIOR
    Literatura e ensino: reflexões e propostas. Natal: EDUFRN, 129-138 , 2014
    2014
    Citations: 5
  • Baggio-Yoshinari Syndrome: case report
    MD Saraiva, ACS Junior, NP de Barros Simis, J Degenszajn, EIM Kim
    Autopsy and Case Reports 1 (2) , 2011
    2011
  • Thrombolysis of acute massive pulmonary embolism in young woman: case report
    AC Santomauro Junior, NPB Simis, HL Staniak, R Sharovsky, ...
    Revista Eletrônica da Sociedade Brasileira de Clínica Médica 1 (2), 39-42 , 2011
    2011
  • Síndrome de Baggio-Yoshinari: relato de caso
    MD Saraiva, ACS Junior, NP de Barros Simis, J Degenszajn, EIM Kim
    Autopsy and Case Reports 1 (2), 63-67 , 2011
    2011
    Citations: 2
  • A relação da circunferência abdominal com outros componentes da síndrome metabólica em pacientes atendidos na feira de saúde de FMABC em 2008
    RKC FEDDER, SAC JUNIOR, CP BES, JB MORAES, FLL BARROS, ...
    Revista Brasileira de Clínica Médica 8, 30-32 , 2010
    2010
    Citations: 2

MOST CITED SCHOLAR PUBLICATIONS

  • Metformina e AMPK: um antigo fármaco e uma nova enzima no contexto da síndrome metabólica
    AC Santomauro Jún, MR Ugolini, AT Santomauro, RP Souto
    Arquivos Brasileiros de Endocrinologia & Metabologia 52 (1), 120-125 , 2008
    2008
    Citations: 47
  • Targeted sequencing identifies novel variants in common and rare MODY genes
    LS de Santana, LA Caetano, AD Costa‐Riquetto, PC Franco, RP Dotto, ...
    Molecular Genetics & Genomic Medicine 7 (12), e962 , 2019
    2019
    Citations: 45
  • Primary adrenal lymphoma: a case series study
    CSO Schreiber, JR Sakon, FPC Simiao, MP Tomarchio, M Huayllas, ...
    Annals of hematology 87 (10), 859-861 , 2008
    2008
    Citations: 22
  • Clinical and genetic characterization and long-term evaluation of individuals with maturity-onset diabetes of the young (MODY): the journey towards appropriate treatment
    PC Franco, LS de Santana, AD Costa-Riquetto, ACS Junior, AAL Jorge, ...
    Diabetes research and clinical practice 187, 109875 , 2022
    2022
    Citations: 13
  • The performance of the MODY calculator in a non-Caucasian, mixed-race population diagnosed with diabetes mellitus before 35 years of age
    AC Santomauro Jr, ÁLF Magalhães, FT Motta, LS de Santana, PC Franco, ...
    Diabetology & Metabolic Syndrome 15 (1), 15 , 2023
    2023
    Citations: 11
  • Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil
    AD Costa‐Riquetto, LS de Santana, PC Franco, ACS Jr, AE Martio, ...
    Clinical genetics 103 (4), 434-447 , 2023
    2023
    Citations: 8
  • Screening and management of hospital hyperglycemia in non-critical patients: a position statement from the Brazilian Diabetes Society (SBD)
    EC Marino, D Momesso, MTK Toyoshima, MFO de Almeida, BD Schaan, ...
    Diabetology & Metabolic Syndrome 17 (1), 54 , 2025
    2025
    Citations: 7
  • A New Proposal for the Treatment of Patients with Diabetic Foot-Photodynamic Therapy
    AC Santomauro Junior, JP Tardivo, BMG Mascarenhas, REMR Ramiro, ...
    Diabetes 64, A185-A186 , 2015
    2015
    Citations: 6
  • LA de. O ato de ler: possibilidades e perspectivas para ensino de literatura no Ensino Médio
    SÁ JÚNIOR
    Literatura e ensino: reflexões e propostas. Natal: EDUFRN, 129-138 , 2014
    2014
    Citations: 5
  • Síndrome de Baggio-Yoshinari: relato de caso
    MD Saraiva, ACS Junior, NP de Barros Simis, J Degenszajn, EIM Kim
    Autopsy and Case Reports 1 (2), 63-67 , 2011
    2011
    Citations: 2
  • A relação da circunferência abdominal com outros componentes da síndrome metabólica em pacientes atendidos na feira de saúde de FMABC em 2008
    RKC FEDDER, SAC JUNIOR, CP BES, JB MORAES, FLL BARROS, ...
    Revista Brasileira de Clínica Médica 8, 30-32 , 2010
    2010
    Citations: 2
  • Phenotypic and molecular reanalysis of a cohort of patients with monogenic diabetes reveals a case of partial lipodystrophy due to the A8344G mutation in the mitochondrial DNA
    PC Franco, M Patrocinio, AD Costa-Riquetto, AC Santomauro, LG Gomes, ...
    Archives of Endocrinology and Metabolism 68, e230084 , 2024
    2024
    Citations: 1
  • 1977-LB: Successful Occurrence of Two Separate Pregnancies in a Patient with Congenital Generalized Lipodystrophy Due to Homozygous AGPAT2 Mutations without Recombinant Leptin …
    AC SANTOMAURO JUNIOR, PC Franco, AD Costa-Riquetto, AA Jorge, ...
    Diabetes 73 (Supplement_1), 1977-LB , 2024
    2024
    Citations: 1
  • Hyperinsulinemic hypoglycemia due to pathogenic INSR variants: metabolic signature, phenotypic overlap, and semidominant inheritance
    R Marcelino Do Nascimento, A dos Santos, D Guadagnini, LS de Santana, ...
    Frontiers in Endocrinology 17, 1716020 , 2026
    2026
  • 56-PUB: Phenotypic Variability in a Brazilian Family with MODY Diabetes Due to ABCC8 Gene Mutation
    AC SANTOMAURO JUNIOR, AD Costa-Riquetto, TG Amorim, ...
    Diabetes 74 (Supplement_1), 56-PUB , 2025
    2025
  • 1881-LB: Inpatient Hyperglycemia—How to Overcome This Challenge
    AC SANTOMAURO JUNIOR, ACMR Palmieri, J Correia, ...
    Diabetes 73 (Supplement_1), 1881-LB , 2024
    2024
  • The performance of the MODY calculator in a non-Caucasian, mixed-race population diagnosed with diabetes mellitus before age 35 years
    ACS Junior, ÁLF Magalhães, FT Motta, LS Santana, PC Franco, ...
    2022
  • DIABETES MELLITUS E DOENÇAS UROLÓGICAS. EFEITOS DAS DROGAS HIPOGLICEMIANTES
    AC SANTOMAURO JÚNIOR, AT Santomauro
    REVISTA URO ABC 10, 37-40 , 2020
    2020
  • Study of the Variability of Heart Rate in Type 2 Diabetes Mellitus Patients with Diabetic Autonomic Neuropathy
    AC Santomauro Junior, BMG Mascarenhas, REMR Ramiro, C Nagaoka, ...
    DIABETES 64, A394-A394 , 2015
    2015
  • Role of Circulating Free Fatty Acids on Insulin Resistance in Chronic Endogenous Hypercortisolism (Cushing's Disease)
    AC Santomauro Junior, ATMG Santomauro, BMG Mascarenhas, ...
    AMER DIABETES ASSOC , 2015
    2015