Publications by authors named "Maria C Foss-Freitas"

Article Synopsis
  • A novel genetic cause of partial lipodystrophy has been identified, linked to a nonsense variant in the early B cell factor 2 gene (p.E165X).
  • The patient exhibited progressive loss of fat tissue and worsening metabolic health from a young age, indicating an atypical presentation of the condition.
  • Laboratory studies show that this genetic variant hinders fat cell development, resulting in an increase of undeveloped cells and inflammation in fat tissues, which disrupts normal tissue function and structure.
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Article Synopsis
  • - The study investigates familial partial lipodystrophy (FPLD) in Brazil, focusing on its clinical, metabolic, and genetic characteristics through a multicenter analysis involving 106 patients.
  • - Results show a high prevalence of diabetes (57.5%), severe hypertriglyceridemia (34.9%), metabolic-associated fatty liver disease (56.6%), and a notable mortality rate linked to cardiovascular issues (3.8%).
  • - The findings highlight the need for better understanding and management of FPLD, particularly due to the serious health complications associated with the disorder in this population.
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Objective: Glucagon-like peptide 1 receptor agonists (GLP-1RA) are widely used for the management of diabetes mellitus (DM), but their efficacy in familial partial lipodystrophy (FPLD) is unknown. In this retrospective study, we evaluated the effect of GLP-1RA in patients with FPLD.

Research Design And Methods: We analyzed data, reported with SDs, from 14 patients with FPLD (aged 58 ± 12 years; 76.

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There is no strong evidence that any specific diet is the preferred treatment for lipodystrophy syndromes. Here we remark on the benefits of a very-low-calorie diet (VLCD) in a patient with familial partial lipodystrophy type 2 (FPLD2). A 38-year-old female diagnosed with FPLD2, with a history of multiple comorbidities, underwent 16 weeks of VLCD with a short-term goal of improving her metabolic state rapidly to achieve pregnancy by in vitro fertilization (IVF).

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Dietary restriction (DR) reduces adiposity and improves metabolism in patients with one or more symptoms of metabolic syndrome. Nonetheless, it remains elusive whether the benefits of DR in humans are mediated by calorie or nutrient restriction. This study was conducted to determine whether isocaloric dietary protein restriction is sufficient to confer the beneficial effects of dietary restriction in patients with metabolic syndrome.

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Type 1 diabetes (T1D) arises from autoimmune-mediated destruction of insulin-producing -cells leading to impaired insulin secretion and hyperglycemia. T1D is accompanied by DNA damage, oxidative stress, and inflammation, although there is still scarce information about the oxidative stress response and DNA repair in T1D pathogenesis. We used the microarray method to assess mRNA expression profiles in peripheral blood mononuclear cells (PBMCs) of 19 T1D patients compared to 11 controls and identify mRNA targets of microRNAs that were previously reported for T1D patients.

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Background: Familial partial lipodystrophy (FPLD) is a rare disease characterized by selective loss of peripheral subcutaneous fat, associated with dyslipidemia and diabetes mellitus. Reductions in circulating levels of ANGPTL3 are associated with lower triglyceride and other atherogenic lipids, making it an attractive target for treatment of FPLD patients. This proof-of-concept study was conducted to assess the efficacy and safety of targeting ANGPTL3 with vupanorsen in patients with FPLD.

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Objective: Insulin sensitivity evaluation by hyperinsulinemic-euglycemic clamp in nonclassical congenital adrenal hyperplasia (NC-CAH) due to 21-hydroxilase deficiency.

Design And Setting: Cross-sectional study at university hospital outpatient clinics.

Patients And Methods: NC-CAH patients (25 females, 6 males; 24 ± 10 years) subdivided into C/NC (compound heterozygous for 1 classical and 1 nonclassical allele) and NC/NC (2 nonclassical alleles) genotypes were compared to controls.

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Mechanisms by which autosomal recessive mutations in cause familial partial lipodystrophy type 2 (FPLD2) are poorly understood. To investigate the function of lamin A/C in adipose tissue, we created mice with an adipocyte-specific loss of ( ). Although mice develop and maintain adipose tissues in early postnatal life, they show a striking and progressive loss of white and brown adipose tissues as they approach sexual maturity.

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Type 1 diabetes (T1D) is an autoimmune disease characterized by the destruction of pancreatic β cells. We show here that the protein NOD-like receptor family pyrin domain containing 1 (NLRP1) has a key role in the pathogenesis of mouse and human T1D. More specifically, downregulation of NLRP1 expression occurs during T helper 17 (Th17) differentiation, alongside greater expression of several molecules related to Th17 cell differentiation in a signal transducers and activators of transcription 3 (STAT3)-dependent pathway.

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Several single nucleotide polymorphisms (SNPs) could indirectly, as well directly, influence metabolic parameters related to health effects in response to selenium (Se) supplementation. This study aimed to investigate whether the selenoprotein SNPs were associated with the response of Se status biomarkers to the Brazil nut consumption in patients using statins and if the variation in Se homoeostasis could affect antioxidant protection, lipid profile, muscle homoeostasis and selenoproteins mRNA. The study was performed in the Ribeirão Preto Medical School University Hospital.

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Night work has become necessary in our modern society. However, sleep deprivation induces a circadian misalignment that effectively contributes to the development of diseases associated with metabolic syndrome, such as obesity and diabetes. Here, we evaluated the pattern of circadian clock genes and endoplasmic reticulum stress (ERS) genes in addition to metabolic and anthropometric measures in subjects that work during a nocturnal period compared with day workers.

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Background: Bariatric surgery, especially Roux-en-Y gastric bypass (RYGB), is the most effective and durable treatment option for severe obesity. The mechanisms involving adipose tissue may be important to explain the effects of surgery.

Methods: We aimed to identify the genetic signatures of adipose tissue in patients undergoing RYGB.

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Objective: This study aimed to investigate the shortcoming of BMI as a measurement of adiposity in patients with familial partial lipodystrophy (FPLD).

Methods: Two different matching procedures were used to compare 55 FPLD versus control patients with severe obesity (N = 548 patients) to study the relationship between body weight, fat distribution, and metabolic diseases, such as diabetes mellitus, hypertriglyceridemia, and nonalcoholic steatohepatitis. In MATCH1, the patients with FPLD were matched to controls with obesity (OCs) by truncal mass, and in MATCH2, the patients with FPLD were matched to OCs with respect to glucose control.

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Article Synopsis
  • Lipodystrophy is a rare group of diseases marked by fat loss, leading to serious health issues like insulin resistance and specific clinical symptoms based on its molecular causes.
  • The article aims to assist physicians in diagnosing and managing lipodystrophy by reviewing existing literature and summarizing its management strategies.
  • Understanding adipose tissue's role as an endocrine organ is crucial, as it affects metabolism and energy regulation; physicians must carefully differentiate lipodystrophy from other similar conditions through accurate interpretation of clinical and diagnostic results before deciding on treatment.
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Aldosterone excess aggravates endothelial dysfunction in diabetes and hypertension by promoting the increased generation of reactive oxygen species, inflammation, and insulin resistance. Aldosterone activates the molecular platform inflammasome in immune system cells and contributes to vascular dysfunction induced by the mineralocorticoid hormone. It is unclear as to whether the NLRP3 inflammasome associated with the mineralocorticoid receptor contributes to vascular dysfunction in diabetic conditions.

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Unlabelled: The rising prevalence of T2DM poses a serious threat to human health and the viability of many health care systems around the world. Non-adherence to therapeutic in the T2DM is high, and Brazilian studies of public heath for to identify new variables are scares. The present study explored cardiovascular consequences associated with compliance and non-adherence among T2DM in Brazilian patients seeking medical care in Brazilian basic health unit clinics.

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Unlabelled: Detrimental drug-drug interactions (DDIs) in Diabetic patients could be from the simultaneous use of multiple drugs, polypharmacy. Brazilian public health studies evaluating the practical knowledge about drug interactions are scarce. This study's objective is to identify drug interactions and prevalence of detrimental DDIs in diabetic patients attending Brazilian basic health system clinics.

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Unlabelled: Familial partial lipodystrophy type 2 (FPLD2) is characterized by insulin resistance, adipose atrophy of the extremities and central obesity. Due to the resemblance with Cushing's syndrome, we hypothesized a putative role of glucocorticoid in the pathogenesis of metabolic abnormalities in FPLD2.

Objective: To evaluate the phenotypic heterogeneity and glucocorticoid sensitivity in FPLD2 patients exhibiting the p.

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Article Synopsis
  • - The study explores the role of miRNAs in diabetes, focusing on how their expression profiles could reveal the severity and complications of the disease in Type 1 and Type 2 diabetes patients compared to healthy individuals.
  • - Researchers analyzed the miRNA profiles of 63 patients with diabetes and 40 healthy controls using advanced sequencing techniques to identify key miRNAs linked to microvascular complications like neuropathy, nephropathy, and retinopathy.
  • - Specific miRNAs were validated and found to correlate with different complications, suggesting they target important gene families related to the disease, which could offer insights into future treatments for diabetes-related issues.
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Objectives: Dietary omega-3 fatty acids have been efficacious in decreasing serum cholesterol levels and reducing the risk of cardiovascular disease. However, the metabolic and molecular changes induced by the omega-3 fatty acid α-linolenic acid (ALA), which is found in linseed oil, are not fully understood. In this study, we showed a correlation between ALA and insulin resistance, inflammation and endoplasmic reticulum stress (ERS).

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Background: Body fat redistribution and metabolic abnormalities found in HIV patients receiving highly active antiretroviral therapy (HAART) contribute to an atherogenic profile, increasing cardiovascular disease risk.

Objective: We aimed to evaluate adiposity measures/indexes and propose cutoffs associated with predictors of cardiovascular disease risk in HIV patients on HAART.

Design: To evaluate cardiovascular disease risk in this cross-sectional study, we conducted electrocardiogram exams and stress electrocardiography, measured the ankle brachial index and blood pressure arterial hypertension, conducted lipid biochemical tests, and measured blood glucose.

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Background: Familial partial lipodystrophy of the Dunnigan type is one of the most common inherited lipodystrophies variables. These individuals have important metabolic disorders that cause predisposition to various diseases. In this study we aimed to demonstrate the relation between the metabolic abnormalities, inflammatory profile and the expression of genes involved in the activation of the endoplasmic reticulum stress (ERS) in subjects with FPLD.

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Introduction: The HIV lipodystrophy syndrome is characterized by changes in metabolism, and body composition that increase cardiovascular risk of people living with HIV/AIDS (PLWHA) using highly active antiretroviral therapy (HAART).

Objective: To assess the prevalence of lipodystrophy and changes in lipid and glucose metabolism in PLWHA in use of HAART.

Methods: For the anthropometric evaluation we measured weight, height and abdominal circumference (AC).

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Aim: This randomized controlled clinical trial aimed to evaluate the contribution of family social support to the clinical/metabolic control of people with type 2 diabetes mellitus.

Background: Diabetes mellitus is a chronic disease that requires continuous care in order for individuals to reach glycemic control, the primordial goal of treatment. Family social support is essential to the development of care skills and their maintenance.

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