A5065219881- Pancreatic function and diabetes
- Diabetes and associated disorders
- Metabolism, Diabetes, and Cancer
- Nuclear Structure and Function
- Renal and related cancers
- Genetics and Neurodevelopmental Disorders
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- RNA and protein synthesis mechanisms
- RNA Research and Splicing
- Bone Tumor Diagnosis and Treatments
- Genomics and Rare Diseases
- PARP inhibition in cancer therapy
- Pancreatic and Hepatic Oncology Research
- Diabetes Management and Research
- Congenital heart defects research
- Medical and Biological Sciences
- Diabetes Treatment and Management
- Pituitary Gland Disorders and Treatments
- Adrenal and Paraganglionic Tumors
- Rural Development and Agriculture
- Myasthenia Gravis and Thymoma
Universidade de São Paulo
2016-2024
Diabetes Australia
2019-2020
Centro de Genética Clínica
2020
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2012-2019
Hospital São Paulo
2017
Centro Universitário das Faculdades Metropolitanas Unidas
2015
Hospital Universitário da Universidade de São Paulo
2015
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...
Maturity-Onset Diabetes of the Young (MODY) type 4 or PDX1 -MODY is a rare form monogenic diabetes caused by heterozygous variants in . Pancreatic developmental anomalies related to are reported only neonatal cases. Here, we describe dorsal pancreatic agenesis 2 patients with -MODY. The proband presented since 14 years age and maintained regular glycemic control low doses basal insulin detectable C-peptide levels after 38 diabetes. A diagnosis MODY was suspected. Targeted next-generation...
Maturity-onset diabetes of the young (MODY) is a form monogenic with autosomal dominant inheritance. GCK -MODY and HNF1A are prevalent subtypes. Currently, there growing concern regarding correct interpretation molecular genetic findings. The American College Medical Genetics Genomics (ACMG) updated guidelines to interpret classify variants. This study aimed determine prevalence MODY ( / ) in large cohort Brazilian families, report variants related phenotype, them according ACMG guidelines....
Maturity-onset diabetes of the young (MODY) is characterized by an autosomal dominant mode inheritance, early onset hyperglycemia, and defects insulin secretion. MODY subtypes described present genetic, metabolic, clinical differences. 2 mild asymptomatic fasting rarely requires pharmacological treatment. Hence, precise diagnosis important for determining management prognosis. We report two heterozygous GCK mutations identified during investigation short stature. Case 1: a prepubertal...
To verify the presence of variants in HNF1B a sample Brazilian population selected according to renal cysts associated with hyperglycemia.We evaluated 28 unrelated patients clinical suspicion mutation because concomitant diabetes mellitus (DM) or prediabetes and cysts. Genotyping was accomplished using Sanger sequencing multiplex ligation-dependent probe amplification (MLPA). In positive cases, available relatives were recruited.We found two mutations. The first presented variant...
Abstract This analysis assesses the financial viability of legally investing in native Cerrado vegetation deforestation for crop production, considering climate change. The study uses data from twelve different models based on three to predict potential future yields cleared land growing soy and maize. outcomes show that many micro-regions, investments clearing production would destroy economic value, is, generate a negative net present value because low/negative volatile cashflows driven...
Background Maturity-Onset Diabetes of the Young (MODY) is a group monogenic forms diabetes mellitus (DM) caused by mutations in at least 13 genes. Mutations Glucokinase (GCK) and Hepatocyte nuclear factor-1 homeobox A (HNF1A) are most common. Frequency subtypes varies according to studied population. broader view MODY Brazil needed improve diagnosis, epidemiological registry, clinical care, also paving way for future research.
Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation (NGS).Nine unrelated individuals with a clinical CGL were recruited. We used customized panel capture genes related lipodystrophies. DNA libraries generated, sequenced the Illumina MiSeq, and bioinformatics analysis was performed.An accurate stated for all nine patients. Four had pathogenic variants in AGPAT2 three BSCL2....
Background Maturity-Onset Diabetes of the Young (MODY) is a form monogenic diabetes characterized by autosomal dominant inheritance, young age onset and pancreatic betacell dysfunction without autoimmune cause. To date 13 genes have been identified associated with MODY phenotype, four them (HNF1A; GCK; HNF4A HNF1B) being responsible for over 95% cases. Recently, our group has initiated molecular genetic screening using Sanger's sequencing method.
Background Congenital generalized lipodystrophies (CGL) or Berardinelli-Seip Lipodystrophy (BSCL) are rare autosomal recessive disorders with reduction of subcutaneous and visceral adipose tissue, associated deregulation lipidic glycidic metabolism, most them developing insulin resistance diabetes mellitus during the second decade life. There four CGL syndromes described (CGL-1 to 4) caused by mutations in AGPAT2, BSCL2, CAV1 PTRF. The AGPAT2 BSCL2 responsible for 95% reported cases...