A5089353728- Thyroid Cancer Diagnosis and Treatment
- Adipokines, Inflammation, and Metabolic Diseases
- Diabetes and associated disorders
- Diabetes Management and Research
- Pancreatic function and diabetes
- Endoplasmic Reticulum Stress and Disease
- Salivary Gland Tumors Diagnosis and Treatment
- Head and Neck Anomalies
- RNA regulation and disease
- Thyroid Disorders and Treatments
- Genetics and Neurodevelopmental Disorders
- Lipid metabolism and disorders
- Cardiovascular Disease and Adiposity
- Adenosine and Purinergic Signaling
- Nuclear Structure and Function
- Vitamin D Research Studies
- RNA Research and Splicing
- Diabetes Treatment and Management
- Cardiac Ischemia and Reperfusion
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Cytokine Signaling Pathways and Interactions
- Digestive system and related health
- Health and Lifestyle Studies
- Adrenal Hormones and Disorders
- RNA modifications and cancer
Universidade Federal de São Paulo
2011-2024
Mutations in LMNA have been linked to diverse disorders called laminopathies, which display heterogeneous phenotypes and include diseases affecting muscles, axonal neurons, progeroid syndromes, lipodystrophies. Among the lipodystrophies, mutations reported most frequently patients with familial partial lipodystrophy (FPLD) of Dunnigan variety; however, phenotypic heterogeneity pattern body fat loss has observed. In this study, we searched for various forms lipodystrophy.We studied 21...
Objective Wolfram syndrome (WS) is a rare, progressive, neurodegenerative disorder with an autosomal recessive pattern of inheritance. The gene for WS, WFS1 , was identified on chromosome 4p16 and most WS patients carry mutations in this gene. However, some studies have provided evidence genetic heterogeneity the genotype–phenotype relationships are not clear. Our aim to ascertain spectrum Brazilian examine phenotype–genotype these patients. Design methods Clinical characterization analyses...
Coronary artery disease (CAD) is the leading cause of death among individuals with type 2 diabetes (T2DM). T2DM accelerates atherosclerosis alongside classical risk factors such as dyslipidemia and hypertension. This study aims to investigate association hyperglycemia associated CAD in outpatients undergoing coronary angiography.818 referred angiography were evaluated for glucose disturbances. After exclusion those prediabetes, 347 94 normoglycemic controls studied BMI, blood pressure,...
Lipodystrophies are a group of heterogeneous disorders characterized by the loss adipose tissue and metabolic complications. The main familial forms lipodystrophy Congenital Generalized Lipodystrophy Familial Partial (FPLD). FPLD may result from mutations in LMNA gene. Besides FPLD, have been shown to be responsible for other inherited diseases called laminopathies. Here we describe case 15-year-old girl who was referred our service due diabetes mellitus severe hypertriglyceridemia. Physical...
Abstract Background Nicotinamide phosphoribosyltransferase (NAMPT) is the limiting enzyme in one of pathways synthesis Adenine Dinucleotide, a redox coenzyme. NAMPT considered as an insulin-mimetic factor and potential regulatory inflammatory immune processes. Associations circulating levels with cardiovascular disease (CVD) insulin resistance have been reported. We investigated association rs9770242 gene polymorphism coronary artery (CAD). Methods studied 594 Brazilian subjects undergoing...
Serum thyroglobulin is a sensitive tumor marker in the follow-up of patients with differentiated thyroid carcinoma (DTC), but presence endogenous anti-thyroglobulin antibodies (TgAb) can interfere on its measurement. To prevent interference by TgAb, several investigators have tried to quantify blood mRNA Tg real-time RT-PCR, results been variable, not reporting correlation between and metastases.The aim study was evaluate development specific quantitative RT-PCR assay for DTC.An employing...
Background: Guidelines for the follow-up of differentiated thyroid cancer (DTC) recommend measurement TSH-stimulated thyroglobulin (s-Tg) instead basal Tg on T<sub>4</sub> therapy (b-Tg). However, these guidelines were established using first-generation assays with a functional sensitivity (FS) 0.5-1.0 ng/ml. Current more sensitive second-generation (Tg2G; FS 0.05-0.10 ng/ml) have shown that low-risk DTC patients undetectable b-Tg rarely recurrences. Objectives: This study was undertaken to...
The widespread use of neck ultrasonography (US) during the follow-up patients with papillary thyroid carcinoma (PTC) has led to discovery small cervical lymph nodes (LN). Although US a high sensitivity for diagnosing LN, fine needle aspiration biopsy (FNA) and measurement thyroglobulin in aspirates (FNA-Tg) have proven be invaluable tools. aim this study is determine combined US, FNA FNA-Tg diagnosis nodes. We studied 32 44 LN detected by 19 classified as inflammatory 25 suspicious. 15 those...
Persistence of β cell-function in Type 1 diabetes (T1D) is associated with glycaemia stability and lower prevalence microvascular complications. We aimed to assess the residual C- peptide secretion long-term Brazilian childhood onset T1D receiving usual care its association clinical, metabolic variables complications.A cross-sectional observational study 138 adults ≥ 3 years from diagnosis by routine care. Clinical, complications were compared between positive ultra-sensitive fasting serum...
The presence of thyroglobulin (Tg) in needle washouts fine aspiration biopsy (Tg-FNAB) neck lymph nodes (LNs) suspected metastasis has become a cornerstone the follow-up patients with papillary thyroid carcinoma (PTC). However, there are limited data regarding measurement anti-Tg antibodies these (TgAb-FNAB), and it is not clear whether interfere assessment Tg-FNAB or other factors that would more consistently justify finding low metastatic LNs.We investigated 232 FNAB samples obtained from...
Polymorphisms of vitamin D receptor (VDR) gene have been studied as genetic markers type 1 diabetes mellitus (T1DM) and some studies reported associations with autoimmune thyroid disease. The aim this study was to evaluate the relationship between VDR FokI polymorphism (rs10735810), autoimmunity dysfunction (TD) in Brazilian T1DM. One-hundred-eighty T1DM patients were evaluated for age, duration (DDM), positivity TPO Antibody (TPOA), GAD (GADA), IA2 (IA2A) fasting serum C-peptide (FCP)...
To evaluate the accuracy of routinely available parameters in screening for GCK maturity-onset diabetes young (MODY), leveraging data from two large cohorts - one patients with GCK-MODY and other type 1 (T1D).
Adiponectin is an important mediator of insulin sensitivity, encoded by the ADIPOQ gene. Here we describe two Japanese-Brazilian families with hypoadiponectinaemia due to a novel mutation in ADIPOQ.In this study, examined entire translated regions adiponectin Japanese-Brazilians, population one highest prevalence rates diabetes worldwide. We screened 200 patients type 2 (DM) and 240 age-matched subjects normal glucose tolerance.A heterozygous T deletion at position 186 exon ADIPOQ, causing...
Thyrotoxicosis is the most common cause of acquired flaccid muscle paralysis in adults called thyrotoxic periodic (TPP) and characterised by transient hypokalaemia hypophosphataemia under high thyroid hormone levels that frequently precipitated carbohydrate load. The sulphonylurea receptor 1 (SUR1 ( ABCC8 )) an essential regulatory subunit β-cell ATP-sensitive K + channel controls insulin secretion after feeding. Additionally, SUR1 Ala1369Ser variant appears to be associated with...
Adiponectin circulates in different multimer complexes comprised of low molecular weight trimeric form (LMW), hexamer middle (MMW) and high multimers (HMW). In Japanese-Brazilians, a population with prevalence glucose metabolism disturbances, we examined the associations total adiponectin its diabetes mellitus.Two study groups were examined: 26 patients mellitus (DM,14 women 12 men, aged 55.3 ± 8.6 years) 27 age-matched control subjects normal tolerance (NGT,12 15 54.0 9.2 years).We found no...
Abstract Background: Persistence of β cell-function in Type 1 diabetes (T1D) is associated with glycaemia stability and lower prevalence microvascular complications. We aimed to assess the residual C- peptide secretion long-term Brazilian childhood onset T1D receiving usual care its association clinical, metabolic variables Methods: A cross-sectional observational study 138 adults > 3 years diagnosis care. Clinical, complications were compared between positive ultra-sensitive fasting...