A. Santomauro

ORCID: 0000-0002-8467-7195
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About
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Research Areas
  • Horticultural and Viticultural Research
  • Powdery Mildew Fungal Diseases
  • Fungal Plant Pathogen Control
  • Plant Pathogens and Fungal Diseases
  • Diabetes and associated disorders
  • Pancreatic function and diabetes
  • Plant Physiology and Cultivation Studies
  • Fermentation and Sensory Analysis
  • Metabolism, Diabetes, and Cancer
  • Healthcare Regulation
  • Plant Pathogens and Resistance
  • Berry genetics and cultivation research
  • Insect behavior and control techniques
  • Erythropoietin and Anemia Treatment
  • Nuclear Structure and Function
  • Wheat and Barley Genetics and Pathology
  • Yeasts and Rust Fungi Studies
  • Hyperglycemia and glycemic control in critically ill and hospitalized patients
  • Agriculture and Biological Studies
  • Agriculture, Plant Science, Crop Management
  • Non-Invasive Vital Sign Monitoring
  • Forest Insect Ecology and Management
  • Lipoproteins and Cardiovascular Health
  • Plant Disease Resistance and Genetics
  • Plant Virus Research Studies

Beneficência Portuguesa de São Paulo
2008-2025

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2011-2024

Universidade de São Paulo
1996-2022

Diabetes Foundation
2022

Fundación Con Vida
2020

Faculdade de Medicina do ABC
2009-2014

University of Bari Aldo Moro
2000

Abstract Background Maturity‐onset diabetes of the young (MODY) is a form monogenic with autosomal dominant inheritance. To date, mutations in 11 genes have been frequently associated this phenotype. In Brazil, few cohorts screened for MODY, all using candidate gene approach, high prevalence undiagnosed cases (MODY‐X). Methods We conducted next‐generation sequencing target panel (tNGS) study to investigate, first time, Brazilian cohort MODY patients negative prior genetic analysis. One...

10.1002/mgg3.962 article EN cc-by-nc Molecular Genetics & Genomic Medicine 2019-10-08

Abstract 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 Brazilians diagnosed with mellitus (DM) before 35 years age. Methods The electronic records 391 individuals were reviewed 2020 at clinic a quaternary hospital São Paulo analyzed: 231 type 1 DM (T1DM), 46 2 (T2DM) 114 MODY. MODY was applied to three groups. receiver operating characteristic curve calculated obtain...

10.1186/s13098-023-00985-3 article EN cc-by Diabetology & Metabolic Syndrome 2023-02-06

Familial partial lipodystrophy (FPLD) is a very rare genetic disease characterized by insulin resistance due to loss of subcutaneous fat from the extremities together with progressive storage around face and neck inside abdomen. In over 50% cases, molecular testing reveals pathogenic variants in two nuclear genes, LMNA PPARG. The case reported here refers woman phenotypically diagnosed FPLD, who presented diabetes multiple cervical lipomatosis whom no variant had been found genes classically...

10.20945/2359-4292-2023-0084 article EN cc-by Archives of Endocrinology and Metabolism 2024-01-01

Erythropoietin (EPO) has been well characterized as a renal glycoprotein hormone regulating red blood cell production by inhibiting apoptosis of erythrocyte progenitors in hematopoietic tissues. EPO exerts regulatory effects cardiac and skeletal muscles. Duchenne muscular dystrophy is lethal degenerative disorder muscle. In this study, we tested the possible therapeutic beneficial effect recombinant (rhEPO) dystrophic muscles mdx mice. Total strength was measured using force transducer...

10.1590/1414-431x20143858 article EN cc-by Brazilian Journal of Medical and Biological Research 2014-09-03

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 diagnosed at 6-12 age (early onset [EOD]), etiology monogenic; however, most cases consist type 1 (T1DM). Molecular diagnosis was determined a cohort 35 unrelated Brazilian patients with NDM EOD based on targeted next-generation sequencing panel and/or chromosome 6q24 abnormalities. The impact genetic testing treatment...

10.1111/cge.14279 article EN Clinical Genetics 2022-12-13

Powdery mildew, caused by Sphaerotheca fuliginea , is a major disease of Cucurbitaceae. The use natural compounds as alternatives or complements to chemical fungicides would be helpful because the crops require continued prolonged harvesting, during which young unsprayed leaf tissues continuously become available for infection. Several were tested on courgette and cucumber plants grown under glasshouse conditions artificially inoculated with S. fuliginea. Both sodium bicarbonate (0.5%)...

10.1111/j.1365-2338.2000.tb00881.x article EN EPPO Bulletin 2000-06-01

Abstract Aim: Our objective is to enhance the molecular diagnostic precision in a cohort of unresolved monogenic diabetes cases, previously investigated by next-generation sequencing target panel (tNGS), through comprehensive bidirectional phenotypic and genotypic reanalysis. Methods: We analyzed clinical data from 128 cases referred between 2011 2019. These included 92 suspected maturity-onset young (MODY), 12 neonatal diabetes, 16 familial partial lipodystrophy (FPLD), 7 mitochondrial 1...

10.21203/rs.3.rs-3857731/v1 preprint EN cc-by Research Square (Research Square) 2024-03-12

Diabetes Mellitus (DM) can progress to Diabetic Kidney Disease (DKD) in 40% of cases. Albuminuria has a significant impact on clinical outcomes: Cardiovascular (CVD), diabetic retinopathy, neuropathy, and quality life, as well premature death. Aim: Identify the demographic profile outpatients with DKD from tertiary/quaternary hospital order assess need for management adjustment metabolic control reduce risk unfavorable outcomes.

10.1016/j.ekir.2024.02.1390 article EN cc-by-nc-nd Kidney International Reports 2024-04-01

Introduction and Objective: Congenital generalized lipodystrophy (CGL) is a rare genetic disorder with prevalence of approximately 1/2 million people, characterized by the absence adipose tissue associated significant metabolic hormonal complications that adversely affect fertility pregnancy outcomes. We aim to report on two distinct successful pregnancies in patient CGL, attributed homozygous mutations AGPAT2 gene, which were managed without intervention recombinant leptin. Results: A...

10.2337/db24-1977-lb article EN Diabetes 2024-06-14

carrapatos da família Ixodidae e similares sendo responsável por manifestações clínicas sistêmicas como cutâneas, articulares, cardíacas neurológicas.

10.4322/acr.2016.009 article PT cc-by Autopsy and Case Reports 2011-01-01

Abstract Backgroud: A maturity-onset diabetes of the young (MODY) calculator has been described and validated for use in European Caucasians. This study evaluated its performance Brazilians diagnosed with mellitus (DM) before 35 years age. Methods: The electronic records 391 individuals monitored between 1953 2020 at clinic a quaternary hospital São Paulo were analyzed: 231 type 1 DM (T1DM), 46 2 (T2DM) 114 MODY. MODY was applied to three groups. receiver operating characteristic curve...

10.21203/rs.3.rs-2252587/v1 preprint EN cc-by Research Square (Research Square) 2022-11-11

Joel Aleixo é sócio fundador da Empresa Alkhemylab by Aleixo, um laboratório de pesquisa, desenvolvimento e produção Compostos Alquímicos que tem como objetivo integrar potencializar as propriedades curativas possuem. São desenvolvidos a partir flores brasileiras por intermédio sofisticado sistema, com finalidade fazer pessoas possam, diante uma variedade problemas físicos, mentais, emocionais espirituais, reencontrarem equilíbrio, conforto e, isso, o tão almejado bem-estar. As plantas não...

10.29327/233099.21.2-2 article PT Somanlu - Revista de Estudos Amazônicos 2021-01-01
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