Clinical screening for GCK-MODY in 2,989 patients from the Brazilian Monogenic Diabetes Study Group (BRASMOD) and the Brazilian Type 1 Diabetes Study Group (BrazDiab1SG).

Objectives: To evaluate the accuracy of routinely available parameters in screening for GCK maturity-onset diabetes of the young (MODY), leveraging data from two large cohorts - one of patients with GCK-MODY and the other of patients with type 1 diabetes (T1D).

Materials And Methods: The study included 2,687 patients with T1D, 202 patients with clinical features of MODY but without associated genetic variants (NoVar), and 100 patients with GCK-MODY (GCK). Area under the receiver-operating characteristic curve (ROC-AUC) analyses were used to assess the performance of each parameter - both alone and incorporated into regression models - in discriminating between groups.

Predictors of the Availability of Long-Acting Injectable Antipsychotics in US Mental Health Facilities Serving Older Adults.

Introduction:  Older adults are at increased risk of psychotic symptoms and even more at risk of medication nonadherence due to various factors specific to their age including memory impairment. This study aimed to examine the availability of long-acting injectable antipsychotics (LAIs) in US mental health (MH) facilities that serve older adults.

Methods: This study includes 1,216 MH facilities, using the 2022 National Substance Use and Mental Health Services Survey (N-SUMHSS) data from the Substance Abuse and Mental Health Services Administration (SAMHSA).

The role of intermittent continuous glucose monitoring in a successful outpatient transition from insulin to glibenclamide in a patient with transient neonatal diabetes.

Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes occurring mainly in the first 6 months of life. Approximately 30% of transient NDM (TNDM) cases will have an activating mutation in the K channel genes and . The majority of the patients with mutations who are receiving insulin treatment can be transferred to treatment with sulfonylurea (SU), with an improvement in metabolic control and quality of life.

Diagnosis and Treatment of Small Renal Masses: Where Do We Stand?

Purpose Of Review: To present an overview of the current evidence-based studies covering diagnostic and management of SRM.

Recent Findings: Renal cell carcinoma (RCC) represents 3% of the cancers. Nowadays, partial nephrectomy (PN) represents gold standard treatment.

Association of fat mass and obesity-associated (FTO) gene rs9939609 with obesity-related traits and glucose intolerance in an indigenous population, the Xavante.

Background And Aims: Common variants in fat mass and obesity-associated (FTO) gene have been implicated as a susceptibility locus for obesity and type 2 diabetes in different populations. Here, in an indigenous population-based study, we examined whether FTO rs9939609 has a role in susceptibility to glucose intolerance and obesity.

Methods: The study population comprised 949 full Xavante indigenous people (465 men) aged 18-99 years.

Parents' cardiovascular risk factors are related to overweight and obesity in young Brazilians with type 1 diabetes.

Aim: To identify family background characteristics and cardiovascular disease (CVD) risk factors linked to overweight and obesity in Brazilian with type 1 diabetes (T1D).

Methods: We performed cross-sectional anthropometric and laboratory analyses in young individuals with T1D.

Results: Among 181 participants, 87 were women and 94 were men (64%/78% normal weight, 27%/15% overweight and 9%/7% obese).

Use of a Sodium-Glucose Cotransporter 2 Inhibitor, Empagliflozin, in a Patient with Rabson-Mendenhall Syndrome.

Introduction: Among the insulin resistance syndromes that lead to diabetes mellitus in young people, Rabson-Mendenhall syndrome (RMS; OMIM # 262190) is an autosomal recessive inherited disease caused by an insulin receptor mutation (INSR; 147,670). Due to the rarity and complexity of the disease, we have few therapeutic alternatives other than insulin with clinical studies with robust evidence. Some reports suggest the adjunct use of metreleptin, metformin, and pioglitazone with improved glycemic control, however, with results still unsatisfactory for the desirable glycemic targets for this age group.

Cardiovascular risk assessment by coronary artery calcium score in subjects with maturity-onset diabetes of the young caused by glucokinase mutations.

Aims: Maturity-Onset Diabetes of the Young (MODY) caused by glucokinase (GCK) mutations is characterized by lifelong mild non-progressive hyperglycemia, with low frequency of coronary artery disease (CAD) compared to other types of diabetes. The aim of this study is to estimate cardiovascular risk by coronary artery calcification (CAC) score in this group.

Materials And Methods: Twenty-nine GCK-MODY cases, 26 normoglycemic controls (recruited among non-affected relatives/spouses of GCK mutation carriers), and 24 unrelated individuals with type 2 diabetes were studied.

Gamification and reputation: key determinants of e-commerce usage and repurchase intention.

Nowadays, companies know that keeping customers engaged is essential to increase their loyalty. The main goal of this study is to understand the impact of gamification and reputation on the intention of repurchase in e-commerce. Gamification corresponds to the regular usage of game elements in non-game context.

Anticonvulsant mechanisms of the ketogenic diet and caloric restriction.

Many treatments have been proposed to control epileptic seizures, such as the ketogenic diet and caloric restriction. However, seizure control has not yet been improved completely in all patients. Probably, due to the lack of understanding regarding this neurological disorder pathogenesis or pathophysiology, including its molecular approach.

Serum 25-hydroxyvitamin D concentration and its association with glucose intolerance in an indigenous population.

Background And Aims: Type 2 diabetes is a multifactorial disease resulting from diverse genetic and environmental factors as well as the interaction between them. Low levels of 25-hydroxyvitamin D [25(OH)D], an indicator of vitamin D status, have been associated with an increased risk of type 2 diabetes, but not consistently. Also, it remains to be determined if this association differs among ethnic groups.

Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia.

Objective: To verify the presence of variants in HNF1B in a sample of the Brazilian population selected according to the presence of renal cysts associated with hyperglycemia.

Subjects And Methods: We evaluated 28 unrelated patients with clinical suspicion of HNF1B mutation because of the concomitant presence of diabetes mellitus (DM) or prediabetes and renal cysts. Genotyping was accomplished using Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA).

Innate immune response in patients with acute Zika virus infection.

Innate immunity receptors (Toll-like receptors/TLRs and RIG-like receptors/RLRs) are important for the initial recognition of Zika virus (ZIKV), modulation of protective immune response, and IFN-α and IFN-β production. Immunological mechanisms involved in protection or pathology during ZIKV infection have not yet been determined. In this study, we evaluated the mRNA expression of innate immune receptors (TLR3, TLR7, TLR8, TLR9, melanoma differentiation-associated protein 5/MDA-5, and retinoic acid inducible gene/RIG-1), its adapter molecules (Myeloid Differentiation Primary Response Gene 88/Myd88, Toll/IL-1 Receptor Domain-Containing Adaptor-Inducing IFN-β/TRIF), and cytokines (IL-6, IL-12, TNF-α, IFN-α, IFN-β, and IFN-γ) in the acute phase of patients infected by ZIKV using real-time PCR in peripheral blood.

Cardiovascular Risk in Xavante Indigenous Population.

Background: The prevalence of cardiovascular risk factors is little known in Brazilian indigenous populations. In the last two decades, important changes have occurred in the lifestyle and epidemiological profile of the Xavante people.

Objective: to assess the prevalence of cardiovascular risk factors in Xavante adults in São Marcos and Sangradouro/Volta Grande reserves, in the state of Mato Grosso, Brazil.

Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene.

Neonatal diabetes, defined as the onset of diabetes within the first six months of life, is very rarely caused by pancreatic agenesis. Homozygous truncating mutations in the PTF1A gene, which encodes a transcriptional factor, have been reported in patients with pancreatic and cerebellar agenesis, whilst mutations located in a distal pancreatic-specific enhancer cause isolated pancreatic agenesis. We report an infant, born to healthy non-consanguineous parents, with neonatal diabetes due to pancreatic agenesis.

Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data.

Aims: Maturity-Onset Diabetes of the Young (MODY) comprises a heterogeneous group of monogenic forms of diabetes caused by mutations in at least 14 genes, but mostly by mutations in Glucokinase (GCK) and hepatocyte nuclear factor-1 homeobox A (HNF1A). This study aims to establish a national registry of MODY cases in Brazilian patients, assessing published and unpublished data.

Methods: 311 patients with clinical characteristics of MODY were analyzed, with unpublished data on 298 individuals described in 12 previous publications and 13 newly described cases in this report.

Prevalence of metabolic syndrome in the Brazilian Xavante indigenous population.

Background: The raising prevalence of weight excess and of non-communicable diseases in indigenous populations, as well as changes in food consumption and reduction in the frequency and intensity of physical activity, suggest that the prevalence of metabolic syndrome (MS) is also elevated. The objective of this study was to evaluate the prevalence of MS and the frequency of its components in the Xavante adult population living in the Indian reservations of São Marcos and Sangradouro/Volta Grande, in the state of Mato Grosso, Brazil. A cross-sectional study was carried out among 932 Xavante Indians aged 20 years or more, in the 2008-2012 period.

Erratum: Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation.

[This corrects the article DOI: 10.1186/1758-5996-4-40.].

Performance of glycated haemoglobin (HbA1c) as a screening test for diabetes and impaired glucose tolerance (IGT) in a high risk population--the Brazilian Xavante Indians.

Aims: To examine the properties of HbA1c to detect diabetes and IGT in adult Brazilian Xavante Indians, a high risk population for diabetes.

Methods: The survey was carried out between October 2010 and January 2012 and based on a 75 g oral glucose tolerance test (OGTT). Basal and 2h capillary glycaemia were measured by HemoCue Glucose 201+; HbA1c using an automated high-performance liquid chromatography analyzer (Tosoh G7).

The insulin-sensitivity sulphonylurea receptor variant is associated with thyrotoxic paralysis.

Thyrotoxicosis is the most common cause of the acquired flaccid muscle paralysis in adults called thyrotoxic periodic paralysis (TPP) and is characterised by transient hypokalaemia and hypophosphataemia under high thyroid hormone levels that is frequently precipitated by carbohydrate load. The sulphonylurea receptor 1 (SUR1 (ABCC8)) is an essential regulatory subunit of the β-cell ATP-sensitive K(+) channel that controls insulin secretion after feeding. Additionally, the SUR1 Ala1369Ser variant appears to be associated with insulin sensitivity.

High prevalence of type 2 diabetes mellitus in Xavante Indians from Mato Grosso, Brazil.

Objective: To estimate the prevalence of diabetes, hypertension, obesity, and describe demographic, anthropometric and medical characteristics, in a genetically distinct population: the Brazilian Xavante Indians.

Design: Population-based survey carried out among 948 Xavante from Mato Grosso, Brazil. Fasting and 2-hour after 75 g glucose capillary glycemia were measured by a portable glucometer (HemoCue Glucose201+).

Evaluation of body adiposity index (BAI) to estimate percent body fat in an indigenous population.

Background & Aims: The aim of this study was to evaluate the usefulness of Body Adiposity Index (BAI) as a predictor of body fat in Xavante Indians and to investigate which anthropometric measures of adiposity best correlate with body fat in this population.

Methods: We evaluated 974 individuals (476 male), aged 42.3 ± 19.

Adiponectin complexes composition in Japanese-Brazilians regarding their glucose tolerance status.

Background: Adiponectin circulates in different multimer complexes comprised of low molecular weight trimeric form (LMW), hexamer of middle molecular weight (MMW) and high molecular weight multimers (HMW). In Japanese-Brazilians, a population with high prevalence of glucose metabolism disturbances, we examined the associations of total adiponectin and its multimers with diabetes mellitus.

Methods: Two study groups were examined: 26 patients with diabetes mellitus (DM,14 women and 12 men, aged 55.