Publications by authors named "Marcia Punales"

Purpose: To evaluate the accuracy of the uterine artery pulsatility index (PI) for the diagnosis of pubertal onset in girls.

Methods: Cross-sectional study of girls with normal pubertal development. Puberty was diagnosed by the presence of Tanner breast development score ≥2.

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Purpose Of Review: This review aims to address the actual state of the most advanced diabetes devices, as follows: continuous subcutaneous insulin infusions (CSII), continuous glucose monitoring systems (CGM), hybrid-closed loop (HCL) systems, and "Do-it-yourself" Artificial Pancreas Systems (DIYAPS) in children, adolescents, and young adults. This review has also the objective to assess the use of telemedicine for diabetes care across three different areas: education, social media, and daily care.

Recent Findings: Recent advances in diabetes technology after integration of CSII with CGM have increased the popularity of this treatment modality in pediatric age and shifted the standard diabetes management in many countries.

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Aim: This study aimed to analyze the association between emotional distress and glycated hemoglobin (HbA1c) values in adolescents and young adults with type 1 diabetes mellitus (T1DM), with respect to dental anxiety, microvascular diabetes chronic complications, demographic conditions.

Method: The cross-sectional study design included 100 adolescents and young adults with T1DM, from regional diabetes reference center. The clinical and laboratory data were obtained from medical records.

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The International Consensus in Time in Range (TIR) was recently released and defined the concept of the time spent in the target range between 70 and 180 mg/dL while reducing time in hypoglycemia, for patients using Continuous Glucose Monitoring (CGM). TIR was validated as an outcome measures for clinical Trials complementing other components of glycemic control like Blood glucose and HbA1c. The challenge is to implement this practice more widely in countries with a limited health public and private budget as it occurs in Brazil.

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This study aimed to compare the effect of high-intensity interval training (HIIT) with moderate-intensity continuous training (MCT) on endothelial function, oxidative stress and clinical fitness in patients with type 1 diabetes. Thirty-six type 1 diabetic patients (mean age 23.5 ± 6 years) were randomized into 3 groups: HIIT, MCT, and a non-exercising group (CON).

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Background: Serological screening for celiac disease (CD) allows the identification of individuals genetically predisposed, as type 1 diabetes mellitus (T1DM). However, the diagnosis is confirmed by intestinal biopsy. The aim was to determine the prevalence of immunoglobulin-A anti-tissue transglutaminase antibodies (IgA-tTG) and CD in a large cohort of young T1DM patients.

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Aims: The aim of this study was to investigate a miRNA expression profile in type 1 diabetes mellitus (T1DM) patients with DKD (cases) or without this complication (controls).

Methods: Expression of 48 miRNAs was screened in plasma of 58 T1DM patients (23 controls, 18 with moderate DKD, and 17 with severe DKD) using TaqMan Low Density Array cards (Thermo Fisher Scientific). Then, five of the dysregulated miRNAs were selected for validation in an independent sample of 10 T1DM controls and 19 patients with DKD (10 with moderate DKD and 9 with severe DKD), using RT-qPCR.

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Background: Risk stratification for persistent disease is an important step in pediatric differentiated thyroid cancer (DTC) management. The dynamic risk stratification (DRS) is a well validated system for adults, but not yet for children and adolescents. This study evaluated the DRS as well as other prognostic factors in pediatric DTC.

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Aims: To investigate a miRNA expression profile in plasma of type 1 diabetes (T1DM) patients and control subjects and analyze the putative pathways involved.

Methods: Expressions of 48 miRNAs were analyzed in plasma of 33 T1DM patients and 26 age-and-gender-matched controls using Stem-loop RT-PreAmp PCR and TaqMan Low Density Arrays (Thermo Fisher Scientific). Five dysregulated miRNAs were then chosen for validation in an independent sample of 27 T1DM patients and 14 controls, using RT-qPCR.

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Objective: To evaluate the frequency of DQ2.5 and DQ8 alleles using the Tag-single-nucleotide polymorphism (Tag-SNP) technique in individuals with type 1 diabetes mellitus (T1DM) and celiac disease (CD) in southern Brazil.

Materials And Methods: In a prospective design, we performed the search for DQA1*0501 and DQB1*0201 alleles for DQ2.

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Background: Hypoglycemia is a critical and limiting factor of a good metabolic control and can adversely affect the quality of life of diabetic patients. The aim of the study was to evaluate the health-related quality of life and calculate utilities values associated with hypoglycemia in patients with type 1 diabetes mellitus (T1DM).

Methods: A multicenter, cross-sectional and observational study with T1DM patients from reference centers of the Brazilian public health system was conducted in three cities.

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Multiple endocrine neoplasia type 2A (MEN2A) may be rarely associated with cutaneous lichen amyloidosis (CLA), a skin lesion located in the interescapular region. Here, we describe 3 MEN2A-related CLA kindred and perform a systematic review (SR) of the literature on clinical, biochemical and molecular characteristics of MEN2A-related CLA patients. Thirty-eight patients with MEN2A-related CLA followed at our institution were evaluated.

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Macro and microvascular disease are the main cause of morbi-mortality in type 1 diabetes (T1DM). Although there is a clear association between endothelial dysfunction and atherosclerosis in type 2 diabetes, a cause-effect relationship is less clear in T1DM. Although endothelial dysfunction (ED) precedes atherosclerosis, it is not clear weather, in recent onset T1DM, it may progress to clinical macrovascular disease.

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Context: The relation between endothelial dysfunction (ED), glycemic control, and early type I diabetes mellitus (T1DM) is unclear.

Objective: The objective of the study was to evaluate the association of ED, glycemic control, and the duration of diabetes in T1DM.

Design: This was a cross-sectional study.

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The possible role of RET variants in modifying the natural course of medullary thyroid carcinoma (MTC) is still a matter of debate. Here, we investigate whether the RET variants L769L, S836S, and G691S/S904S influence disease presentation in hereditary or sporadic MTC patients. One hundred and two patients with hereditary MTC and 81 patients with sporadic MTC attending our institution were evaluated.

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Objectives: To evaluate prospectively the efficacy and safety of insulin glargine use for the metabolic control of type 1 diabetes mellitus (T1DM) children younger than eight years old.

Methods: Nineteen boys and 11 girls with T1DM were included. Before initiating insulin glargine, all children received intensive NPH and aspart insulins for three months.

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Medullary thyroid carcinoma (MTC) may occur sporadically or as a manifestation of an autosomal-dominant inherited syndrome, the multiple endocrine neoplasia type 2. DNA-based RET genotype analysis gained worldwide acceptance in the identification of asymptomatic gene carrier. MTC synthesize and secrete calcitonin, a well established tumor marker and postoperative level of serum calcitonin, indicates whether residual disease was left behind and whether reintervention is necessary.

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Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominant inherited condition that predisposes to the triad of medullary thyroid cancer (MTC), pheochromocytoma (Pheo), and primary hyperparathyroidism (PHT). Nearly 100% of MEN2A are associated with germ line mutation of the RET proto-oncogene (RET), and DNA-based RET genotype analysis is now considered essential for earlier diagnosis. The first manifestation of MEN2A is most often due to MTC, and less frequently to Pheo.

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Background: RET genotype analysis allows identification of asymptomatic carriers at risk of developing medullary thyroid carcinoma (MTC). However, there is still controversy regarding the ideal timing and extent of prophylactic thyroidectomy due to the wide spectrum of clinical presentation. Surveillance of a large number of young patients is crucial to advance our understanding of the natural course of the disease.

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Context: Medullary thyroid carcinoma (MTC), a tumor of the parafollicular C cells of the gland, comprises 3-5% of all malignant thyroid neoplasms. Calcitonin, a polypeptidic hormone secreted by the neoplastic cells, is considered a very sensitive and specific MTC tumor marker. Patients with MTC usually present elevated serum calcitonin levels, which correlate with tumor burden and prognosis.

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Vascular complications are the main cause of mortality and morbidity in diabetes. Mechanisms involved in the development of micro and macrovascular disease are complex and partially understood, but invariably begin as a dysfunctional endothelium. Nitric oxide is an important regulator of endothelial function and the impairment of its activity is determinant of the endothelial dysfunction.

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The aim of the present study is a literature revision of the contribution of continuous glucose monitoring system (CGMS) in the interpretation of HbA1c levels in type 1 diabetes (T1DM). We performed a revision of the efficacy, benefits, interpretation of methods and experience with this system. The CGMS could be useful in T1DM patients that present great glycemic variability or severe hypoglycemia (mainly nocturnal) and postprandial hyperglycemia.

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This article will provide the necessary information to establish a childhood and adolescence management center that would promote the integration and coordination of interdisciplinary members as healthcare teams. It will also show how Instituto da Criança com Diabetes from Rio Grande do Sul (ICD) was built, structured and how it works. The aim of this program is to decrease the frequency of hospitalization in acute cases, to decrease chronic complications and to qualify human resources.

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The term multiple endocrine neoplasia (MEN) was introduced by Steiner et al. in 1968 to describe disorders that include a combination of endocrine tumors. The Wermer syndrome was designed as MEN 1 and the Sipple syndrome as MEN 2.

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Medullary carcinoma of the thyroid (MTC) may be sporadic or may occur on a hereditary basis. Hereditary MTC can occur either alone -- familial MTC (FMTC) -- or as the thyroid manifestation of multiple endocrine neoplasia type 2 (MEN 2) syndromes (MEN 2A and MEN 2B) or other forms. Germ-line mutations in RET cause MEN 2.

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