Newborn screening in Brazil: realities and challenges.

Neonatal screening is a critical public health initiative introduced worldwide to detect severe congenital disorders early in life. This study provides an updated overview of public neonatal screening in Brazil, highlighting the transition from initial pilot projects to a robust national program. Through the analysis of recent data up to 2023, we discuss the coverage and regional efficiencies of the program.

Pharmacologic Treatment of Obesity in adults and its impact on comorbidities: 2024 Update and Position Statement of Specialists from the Brazilian Association for the Study of Obesity and Metabolic Syndrome (Abeso) and the Brazilian Society of Endocrinology and Metabolism (SBEM).

Pharmacological treatment of obesity is passing through many changes in the last decades; different agents have been approved, and newer options are leaning towards higher efficacy and a more favourable safety profile; however, medications approved for a longer time are still available and useful for many patients. This document is an 2024 Update Position Statement of Specialists from the Brazilian Association for the Study of Obesity and Metabolic Syndrome (Abeso) and the Brazilian Society of Endocrinology and Metabolism (SBEM), with the aim of reviewing all the approved medications for the management of obesity in Brazil (sibutramine, orlistat, liraglutide, semaglutide and bupropion/naltrexone fixed dose), with the addition of tirzepatide, that is approved in other countries and likely approved soon in Brazil. The review is focused on efficacy, safety profile and the impact of drugs (based on existing studies) on different comorbidities.

Metabolic bone disease in premature infants receiving parenteral nutrition: Incidence, clinical, laboratory and nutritional profile.

Background: Metabolic bone disease (MBD) of newborns (NB) is characterized by tissue reduction and inadequate postnatal bone mineralization with clinical, laboratory, and/or radiologic repercussions between the third and twelfth weeks of postnatal life, which, in its most severe forms, can lead to a growth deficit and fractures. The aim of our study is to evaluate the incidence of MBD in premature patients receiving parenteral nutrition for >15 days in the neonatal intensive care unit (NICU) and assess their clinical and laboratory characteristics.

Methods: Single-center retrospective cohort study.

Association between the G/G genotype of the lncRNA rs7158663 polymorphism and proliferative diabetic retinopathy.

Objective: To investigate the association between the long noncoding RNAs (lncRNAs) () rs7158663 polymorphism and diabetic retinopathy (DR) in patients with type 2 diabetes mellitus (T2DM).

Subjects And Methods: The study included 628 patients with T2DM and DR ("case group," including 283 with proliferative DR [PDR] and 345 with nonproliferative DR [NPDR]), and 381 patients with T2DM but no DR ("control group"). The diagnosis of DR was established using indirect ophthalmoscopy.

Institutional case volumes of thyroidectomies in Brazil and the impact of the COVID-19 pandemic: insights from a national database.

Introduction: Providing widespread access to thyroidectomies while consolidating services in high-volume centers is a significant challenge in healthcare. In this context, from a national perspective, we aimed to analyze the impact of the COVID-19 pandemic on the institutional case volumes of thyroid surgery in Brazil.

Material And Methods: We analyzed retrospective thyroidectomy data from the Department of Informatics of the Unified Health System (Datasus), stratifying institutions into low-volume, intermediate-volume, and high-volume centers (<10, 10-100, and >100 thyroidectomies/year, respectively).

Brazilian Consensus on the Application of Thermal Ablation for Treatment of Thyroid Nodules: A Task Force Statement by the Brazilian Society of Interventional Radiology and Endovascular Surgery (SOBRICE), Brazilian Society of Head and Neck Surgery (SBCCP), and Brazilian Society of Endocrinology and Metabolism (SBEM).

There is increasing interest in ultrasound-guided ablation treatments for thyroid diseases, including benign and malignant ones. Surgeons, radiologists, and endocrinologists carry out these treatments, and various organizations within these specialties have recently released multiple international consensus statements and clinical practice standards. The aim of the present consensus statement is to provide guidance, cohesion, and standardization of best practices for thermal ablation procedures of thyroid nodules.

Effects of a high-protein, low-glycemic-index diet on body weight and waist circumference in late postmenopausal women: a randomized controlled trial.

Objective: To describe the secondary outcomes (weight loss, waist circumference [WC], and glycolipid profile) of a previous randomized controlled trial designed to investigate the impact of a high-protein, low-glycemic-index (GI) diet on lean body mass in late postmenopausal women.

Subjects And Methods: A total of 26 healthy women aged ≥ 65 years and with a mean body mass index (BMI) of 26.1 ± 3.

Ambulatory blood pressure monitoring and vascular complications in patients with type 1 diabetes mellitus - Systematic review and meta-analysis of observational studies.

Aims: This study aimed to evaluate the role of the 24-Hour Ambulatory Blood Pressure Monitoring (ABPM) as a possible predictor of vascular outcomes in office normotensive people with type 1 diabetes mellitus (T1DM).

Methods: This is a systematic review including cohort studies from the Embase, PubMed/Medline, and Web of Science databases on people with T1DM undergoing ABPM and subsequent evaluation of vascular complications. Measurements of difference (MD) were obtained using random effect model meta-analysis.

Congenital anomalies in pregnancies with overt and pregestational type 2 diabetes: a gray portrayal from a cohort in Brazil.

Objective: To describe the frequency and types of congenital anomalies and associated risk factors in Brazilian women with type 2 diabetes.

Methods: In this retrospective cohort study between 2005 and 2021, we included all pregnant participants with type 2 diabetes from the two major public hospitals in southern Brazil. We collected data from the electronic hospital records.

Neoadjuvant Treatment of Locally Advanced Thyroid Cancer: A Preliminary Latin American Experience.

Surgical resection is not always achievable in thyroid cancer patients. Neoadjuvant therapy is rarely used, but recent trends favor multikinase inhibitors or selective tyrosine kinase inhibitors. These aim to reduce tumor volume, enabling previously unfeasible surgeries.

Gender differences in the pathway of childhood trauma, impulsivity and adult eating behaviour: a cross-sectional study.

The current cross-sectional study aimed to examine the association between childhood trauma, impulsivity, binge eating symptoms, and body mass index (BMI) in a sample of males and females. We also aimed to investigate the indirect association of childhood trauma with binge eating through impulsivity while controlling for BMI. Participants were 410 young adults (mean age = 20.

Body adipose tissue depots and treatment outcomes for women with breast cancer: A systematic review.

Background & Aims: Excessive adipose tissue is associated with poorer prognosis in women with breast cancer (BC). However, several body adiposity depots, such as visceral (VAT), subcutaneous (SAT), intermuscular (IMAT), and gluteofemoral adipose tissues (GFAT) may have heterogeneous metabolic roles and health effects in these patients. This systematic review aims to evaluate the impact of different body adipose tissue depots, assessed via computed tomography (CT), on treatment outcomes for women with BC.

Hyperglycemia-induced hemichorea-hemiballismus syndrome - a systematic review.

Nonketotic hyperglycemia may occur as a cause of chorea in patients with chronic decompensated diabetes. Because it is rare and consequently poorly studied, diagnosis and treatment can be delayed. Therefore, our objective was to summarize clinical and radiological features, as well as treatments performed, from previously reported cases to facilitate adequate management in clinical practice.

Differentiated thyroid carcinoma: what the nonspecialists needs to know.

Differentiated thyroid carcinoma (DTC) accounts for most cases of thyroid cancer, and the heterogeneity of DTC requires that management decisions be taken by a multidisciplinary team involving endocrinologists, head and neck surgeons, nuclear medicine physicians, pathologists, radiologists, radiation oncologists, and medical oncologists. It is important for nonspecialists to recognize and refer patients with DTC who will benefit from a specialized approach. Recent advances in knowledge and changes in management of DTC call for the need to raise awareness on the part of these nonspecialist physicians, including general endocrinologists and medical oncologists at large.

Neuromuscular electrical stimulation changes glucose, but not its variability in type 2 diabetes: a randomized clinical trial.

Neuromuscular electrical stimulation (NMES) can be an alternative to conventional exercising. This randomized clinical trial evaluated the effect of NMES in type 2 diabetes patients. Twenty-eight individuals with type 2 diabetes were assigned to NMES (n=14) or NMES-placebo (n=14) applied to knee extensor muscles for 60 minutes.

Identification of metabolic pathways and key genes associated with atypical parkinsonism using a systems biology approach.

Atypical parkinsonism (AP) is a group of complex neurodegenerative disorders with marked clinical and pathophysiological heterogeneity. The use of systems biology tools may contribute to the characterization of hub-bottleneck genes, and the identification of its biological pathways to broaden the understanding of the bases of these disorders. A systematic search was performed on the DisGeNET database, which integrates data from expert curated repositories, GWAS catalogues, animal models and the scientific literature.

Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.

Microcephaly is characterized by an occipitofrontal circumference at least two standard deviations below the mean for age and sex. Neurodevelopmental disorders (NDD) are commonly associated with microcephaly, due to perturbations in brain development and functioning. Given the extensive genetic heterogeneity of microcephaly, managing patients is hindered by the broad spectrum of diagnostic possibilities that exist before conducting molecular testing.

Brazilian evidence-based guideline for screening, diagnosis, treatment, and follow-up of metabolic dysfunction-associated steatotic liver disease (MASLD) in adult individuals with overweight or obesity: A joint position statement from the Brazilian Society of Endocrinology and Metabolism (SBEM), Brazilian Society of Hepatology (SBH), and Brazilian Association for the Study of Obesity and Metabolic Syndrome (Abeso).

Introduction: Metabolic dysfunction-associated steatotic liver disease (MASLD), previously known as Nonalcoholic fatty liver disease (NAFLD), is one of the most common hepatic diseases in individuals with overweight or obesity. In this context, a panel of experts from three medical societies was organized to develop an evidence-based guideline on the screening, diagnosis, treatment, and follow-up of MASLD.

Material And Methods: A MEDLINE search was performed to identify randomized clinical trials, meta-analyses, cohort studies, observational studies, and other relevant studies on NAFLD.

Cardiorespiratory fitness in individuals with type 2 diabetes mellitus: a systematic review and meta-analysis.

Objective: To conduct a systematic review and meta-analysis assessing the cardiorespiratory fitness (CRF) among individuals with and without type 2 diabetes.

Materials And Methods: The current review was registered in PROSPERO under the number CRD42018082718. MEDLINE, EMBASE, and Cochrane Library databases were searched from inception through February 2022.

2023 UPDATE: Luso-Brazilian evidence-based guideline for the management of antidiabetic therapy in type 2 diabetes.

Background: The management of antidiabetic therapy in people with type 2 diabetes (T2D) has evolved beyond glycemic control. In this context, Brazil and Portugal defined a joint panel of four leading diabetes societies to update the guideline published in 2020.

Methods: The panelists searched MEDLINE (via PubMed) for the best evidence from clinical studies on treating T2D and its cardiorenal complications.

The rs1800469 T/T and rs1800470 C/C genotypes of the TGFB1 gene confer protection against diabetic retinopathy in a Southern Brazilian population.

The transforming growth factor beta 1 (TGFB1) is a pro-inflammatory cytokine that plays a key role in the mechanisms of angiogenesis and breakdown of the blood-retina barrier, which are implicated in the pathogenesis of diabetic retinopathy (DR). Polymorphisms in the TGFB1 gene have been associated with DR; however, results are still contradictory. Therefore, the aim of this study was to investigate the potential association between two TGFB1 polymorphisms and DR.