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4 results on '"Augusto Cezar Santomauro Junior"'

1. 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

Author

Pedro Campos Franco, Michelle Patrocinio, Aline Dantas Costa-Riquetto, Augusto Cezar Santomauro Junior, Larissa Garcia Gomes, and Milena G. Teles

Subjects
Medicine, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

SUMMARY 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.

Published
2024
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2. Baggio-Yoshinari Syndrome: case report

Author

Marcos Daniel Saraiva, Augusto Cezar Santomauro Junior, Nathalia Pessoa de Barros Simis, Jairo Degenszajn, and Elizabeth In Myung Kim

Subjects
Lyme disease, Borrelia burgdorferi, Radiculopathy, Facial paralysis., Medicine, Internal medicine, RC31-1245
Abstract

Lyme disease is caused by the infection by different species of the genus Borrelia and transmitted by the bite of ticks of the Ixodidae family and its similar. It is responsible for systemic clinical manifestations such as skin and joints lesions, cardiac and neurologic symptoms. Since this disease presents peculiarities concerning the etiologic agent, transmission and diagnosis, and there are no conclusive reports in Brazil about the occurrence of Lyme disease, with the same clinical and laboratory features as in the northern hemisphere, it has been chosen to change the nomenclature in Brazil for Baggio-Yoshinari Syndrome (BYS). It is analyzed in this report a case treated in the Hospital Universitário da Universidade de São Paulo who presented exclusively neurological manifestations of the BYS (radiculopathy, facial nerve palsy and cerebelar envolvement) without skin or joint manifestations.

Published
2011
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3. The performance of the MODY calculator in a non-Caucasian, mixed-race population diagnosed with diabetes mellitus before age 35 years

Author

Augusto Cezar Santomauro Junior, Áurea Luiza Fernandes Magalhães, Flávia Tedesco Motta, Lucas Santos Santana, Pedro Campos Franco, Silvia Maria Freitas, Jeniffer Johana Duarte Sanchez, Aline Dantas Costa-Riquetto, and Milena G. Teles

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 in Brazilians diagnosed with diabetes mellitus (DM) before 35 years of age. Methods: The electronic records of 391 individuals monitored between 1953 and 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.

Published
2022
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4. Clinical and genetic characterization and long-term evaluation of individuals with maturity-onset diabetes of the young (MODY): The journey towards appropriate treatment

Author

Pedro, Campos Franco, Lucas, Santos de Santana, Aline, Dantas Costa-Riquetto, Augusto Cezar, Santomauro Junior, Alexander A L, Jorge, and Milena, Gurgel Teles

Subjects
Cohort Studies, Sulfonylurea Compounds, Endocrinology, Diabetes Mellitus, Type 2, Endocrinology, Diabetes and Metabolism, Glucokinase, Mutation, Internal Medicine, Humans, Hepatocyte Nuclear Factor 1-alpha, General Medicine, Retrospective Studies
Abstract

To describe the clinical and genetic characteristics and long-term follow-up of a cohort with maturity-onset diabetes of the young (MODY), and to evaluate how molecular diagnosis impacted on treatment.A large observational, retrospective, cohort study included individuals referred to the University of São Paulo's Monogenic Diabetes Unit between 2011 and 2020. Comprehensive clinical and genetic evaluations were performed.Overall, 228 individuals (190 GCK-MODY and 38 HNF1A-MODY) were enrolled. Sixty-two different GCK gene mutations (5 novel) and 17 HNF1A gene mutations (2 novel) were found. Data were available on treatment status for 76 index individuals with GCK-MODY. Before molecular diagnosis, nutritional intervention alone was used in 41 cases (53.9%). After molecular diagnosis, this number increased to 72 (94.8%). Glycated haemoglobin (HbAMolecular diagnosis resulted in appropriate adjustment of treatment in approximately 80% of participants with GCK-MODY or HNF1A-MODY.

Published
2022
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