Abstract in English:

ABSTRACT This document presents a joint position statement from the Brazilian Association of Emergency Medicine (ABRAMEDE) and the Brazilian Association for the Study of Obesity and Metabolic Syndrome (ABESO) regarding the management of patients with obesity in the Emergency Department. It aimed to provide recommendations for healthcare professionals and policymakers to ensure the provision of appropriate care for patients with obesity, considering their unique needs and the challenges that arise in emergency settings. The position statement addresses key issues such as the need for structural adaptations, specific equipment, and specialized training for healthcare teams. It emphasizes the complexity of emergency care for patients with obesity due to factors such as difficulties in physical examination, imaging, vascular access, and airway management. The document also discusses the prevalence of obesity, its classification, and its impact on health outcomes. It highlights the association of obesity with numerous comorbidities, including type 2 diabetes, hypertension, cardiovascular diseases, and sleep apnea. Moreover, the statement underscores the need to combat stigma and promote a supportive and respectful healthcare environment for patients with obesity. Recommendations include enhancing Emergency Department infrastructure, ensuring adequate training for professionals, and implementing public policies that support the management of obesity and its comorbidities in emergency settings.

Abstract in English:

SUMMARY Turner syndrome is one of the most common aneuploidies. In vitro fertilization with oocyte donation is the usual method of assisted conception, but spontaneous pregnancy can also occur. Although pregnancies in Turner syndrome are widely accepted to be associated with small for gestational age foetuses, neither the causal role of placental insufficiency nor the contribution of maternal and foetal factors is well understood. Between 2009 and 2023, we followed 75 patients diagnosed with Turner syndrome at our university clinic, and four Turner syndrome patients became pregnant (4/75; 5.3%): ten pregnancies with seven live births (7/10; 70%) were reported. Conception was spontaneous in 6/7 patients (86%), and one patient had in vitro fertilization with oocyte donation. Two Turner syndrome patients with karyotype 45,X and two Turner syndrome patients with mosaicism (45,X/46,XX) were identified. Prenatal transabdominal amniocentesis revealed aneuploidy (45,X) in two foetuses. The most common obstetric complication was placental insufficiency, which presented as intrauterine growth restriction and foetal distress. Four early-term deliveries, one late-term delivery, one preterm delivery, and one extremely premature delivery occurred, and all pregnancies were terminated by caesarean section. No severe maternal complications during pregnancy were reported. Only newborns with Turner syndrome had long-term health problems. In Turner syndrome patients, even if pregnancy is conceived spontaneously, no maternal complications occur, and the foetus also has a normal karyotype, there is still a high prevalence of placental insufficiency and foetal compromise. The presented cases highlight the possible role of inherent maternal factors in Turner syndrome-associated intrauterine growth restriction and emphasize the importance of enhanced obstetric surveillance even in apparently uncomplicated Turner syndrome pregnancies.

Abstract in English:

ABSTRACT The aim of this study was to investigate the long-term audiological consequences of resistance to thyroid hormone (RTH) syndrome. The cochlea and inner ear express thyroid hormone receptor beta (THRB) in developmental stages. Hearing loss is frequent in subjects with RTH syndrome; however, the long-term impact of insufficient thyroid hormone action in the auditory system remains unknown. Subjects with RTH from the same family, carrying a THRB gene variant, underwent detailed clinical evaluation and serum biochemistry analysis. The genetic assessment involved sequencing of the THRB gene. Hearing loss assessment included (i) meatoscopy, (ii) audiometric tests using pure tone audiometry, (iii) middle ear evaluation by tympanometry, (iv) transient otoacoustic emissions (TOAE), and (v) computed tomography of the mastoids. Genetic sequencing confirmed the THRB gene alteration (p.M442T) in three family members. All affected subjects had clinical and laboratory RTH features. Notably, the older subject with RTH was affected by a bilateral sensorineural hearing loss pattern affected by high frequencies, and cochlear dysfunction was also presented by TOAE analysis, indicating pronounced hearing loss. Hearing loss represents a significant concern in subjects with RTH, emphasizing the need for continuous and comprehensive audiological assessments. These findings underscore the importance of lifelong monitoring, particularly to assess age-related progression of hearing impairment.

Abstract in English:

SUMMARY The 46, XY differences in sex development (DSD) caused by 5-alpha reductase type 2 (5ARD2) often presents with bilateral undescended testicles, otherwise normal internal reproductive structures, prostate hypoplasia and undervirilized male genitalia. Notably, as one of the few DSDs where fertility is possible, the clinical presentation of this disease is diverse, and reported cases of assisted reproduction are scarce. The fertility potential, reproductive counseling and treatment depend on the clinical presentation of this DSD, especially the testicular position and urethral anatomy. The influence of the timing and modality of surgery for hypospadias and cryptorchidism should be considered. We aimed to describe the use of microscopic testicular sperm extraction (micro-TESE) in this population. We provide a descriptive analysis of how micro-TESE is a possible potential tool for assisted reproduction in 5ARD2-deficient patients. A 33-year-old male who underwent bilateral orchidopexy, phalloplasty, and urethroplasty at the age of 9 years presented successful sperm retrieval but failed embryo development after intracytoplasmic sperm injection. Testicular histology revealed late spermatogenic arrest. A 28-year-old male with bilateral orchidopexy, phalloplasty, and urethroplasty at age 25 with unsuccessful sperm retrieval. Testicular histology revealed a Sertoli cell-only pattern. 5ARD2-deficient patients are singular patients. The potential impact of the time between atypical genitalia procedures and orchidopexy on fertility should be highly considered. Micro-TESE is a technique that may be used to assist azoospermic patients in this population. Early orchidopexy and penile and urethral corrections should be considered key strategies to preserve the fertility potential of 5ARD2 patients.

Abstract in English:

SUMMARY Familial partial lipodystrophy type 2 is a rare disease, particularly when it is caused by nonclassical gene variants. A high index of suspicion is essential for a timely diagnosis. We present the case of a 32-year-old woman, referred to evaluation of a possible Cushing syndrome, which was clinically and biochemically ruled out. Yet, due to the finding of a rather abnormal fat distribution during physical examination, the diagnosis of lipodystrophy was cogitated. Whole-exome sequencing revealed a missense variant of exon 11 R582H of the gene encoding Laminin A (rs57830985,c.1745G>A, p.Arg582His). The patient presented some clinical and biochemical characteristics discordant with those previously reported in patients harboring other classical variants of this gene.

Abstract in English:

ABSTRACT Objective: To evaluate whether bone assessment by radiofrequency echographic multi-spectrometry (REMS) is influenced by trabecular bone integrity by comparing it to dual-energy X-ray absorptiometry (DXA) and the trabecular bone score (TBS). Additionally, the study aims to determine if comparing fracture risk using FRAX and the National Osteoporosis Guideline Group (NOGG) using the T-score from each method would lead to differences in a Brazilian female population. Subjects and methods: A sample of women aged 30-80 underwent REMS and DXA scans of axial sites at the Hospital São Paulo, Brazil. Subsequently, TBS was applied to DXA exams. Clinical data were obtained from hospital records and phone interviews to calculate fracture risk. Results: Among the 343 participants enrolled, 213 had comparable lumbar spine exams by REMS, DXA, and TBS, and 166 had comparable hip exams by REMS and DXA. The correlation between lumbar spine bone mineral density (BMD) by REMS and the TBS was low (r = 0.27, p < 0.001), as was the correlation between DXA and TBS (r = 0.39, p < 0.001). No statistically significant difference was found between the TBS classifications of osteoporotic lumbar spine by REMS and DXA (p = 0.178). Fracture risk data by FRAX were obtained from 119 participants, with 92% receiving concordant NOGG classifications for major osteoporotic fracture risk from REMS and DXA (κ = 0.71 CI95% (0.54 to 0.89), p < 0.001), and 87% for hip fracture risk (κ = 0.58 CI95% (0.38 to 0.77), p < 0.001). Conclusion: REMS performed similarly to DXA in assessing trabecular integrity using TBS. Additionally, no statistically significant difference was observed in fracture risk assessment by FRAX based on NOGG recommendations.

Abstract in English:

ABSTRACT Objective: To evaluate adult height and identify the factors contributing to its achievement in patients born small for gestational age (SGA) treated with recombinant human growth hormone (rhGH). Subjects and methods: This retrospective study includes data of SGA children treated at a pediatric endocrinology center. Inclusion criteria were SGA birth (birth length and/or weight < -1.28 standard deviation score (SDS), absence of catch-up growth by the age of four years, rhGH treatment for more than 12 months, and recorded adult height. Birth size SDS was calculated using Intergrowth-21st (gestational age ≥ 33 weeks) or Fenton (<33 weeks) standards. Patients with uncontrolled chronic diseases, genetic syndromes, or growth hormone deficiency were excluded. An increase of 0.6 SDS or more was considered a positive response. Results: Twenty-four patients (14 boys) were included, with an average gestational age of 38.0 (range: 33.0-40.0) weeks, birth weight of -1.3 ± 0.9 SDS, and birth length of -2.4 ± 0.7 SDS. They were treated with rhGH starting at an average age of 10.3 ± 2.6 years for a duration of 5.4 ± 2.3 years. Height SDS increased from -2.6 ± 0.4 SDS to -1.2 ± 0.6 SDS, which was comparable to the target height SDS (-1.3 ± 0.9; p = 0.3). Although 18 children were classified as good responders, 6 did not achieve a final height SDS > -2.0. Adult height was correlated with the increment in height SDS and growth velocity during the first year of treatment. No significant differences were observed between children classified as SGA by birth weight or length < 10th percentile and those by weight or length < -2.0 SDS. Conclusion: In this cohort of children born SGA with short stature, rhGH treatment effectively improved adult height. Given the diverse causes of being born SGA, the response to rhGH therapy may vary.

Abstract in English:

ABSTRACT Objective: A high-fat diet (HFD) significantly contributes to obesity and alters the neurological function of the brain. This study explored the influence of hypoxia-inducible factor (HIF-1) and its downstream molecules on obesity progression in the context of HFD-induced hypothalamic inflammation. Materials and methods: Utilizing a bioinformatics approach alongside animal models, targets and pathways related to hypothalamic obesity were identified via network analysis, gene target identification, gene ontology analysis, Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment, and subsequent validation in animal models. Results: HIF-1α has the potential to regulate the immune response by promoting immune infiltration and increasing the population of immune cells, particularly memory CD4 T cells, in the hypothalamus, primarily through its influence on ksr2 expression. Additionally, the analysis predicted five drugs capable of enhancing HIF-1-Ksr2 signalling. Conclusion: In conclusion, targeting Ksr2 with specific drugs represents a potential approach for addressing HFD-induced obesity. These novel findings lay the groundwork for developing dietary supplements and therapeutic interventions.

Abstract in English:

ABSTRACT Objective: This study investigates the role of membrane-associated protein 17 (MAP17) and the Akt signaling pathway in the progression of papillary thyroid carcinoma (PTC). Materials and methods: We conducted a series of in vitro experiments using PTC cell lines (HTori-3 and TPC-1). Cells were divided into three groups: control, MAP17 inhibitor negative control (NC), and MAP17 inhibitor treatment. Cell viability was assessed at 0, 24, 48, and 72 hours using the Cell Counting Kit-8 (CCK-8) assay. Apoptosis levels were measured by flow cytometry, and protein and mRNA expression of MAP17, phosphorylated Akt (p-AKT), and Akt were analyzed by Western blot and qRT-PCR. Results: Cell viability in the control, MAP17 inhibitor NC, and MAP17 inhibitor groups increased significantly over time (P < 0.05). Notably, in both HTori-3 and TPC-1 cells, the MAP17 inhibitor significantly reduced cell viability compared to the control and NC groups at 24, 48, and 72 hours (P < 0.05). Furthermore, apoptosis levels were significantly higher in the MAP17 inhibitor group compared to the control and NC groups (P < 0.05). Western blot and qRT-PCR analyses revealed that MAP17 and p-Akt protein and mRNA levels were significantly higher in the control and NC groups compared to the MAP17 inhibitor group (P < 0.05). However, no significant differences in total Akt protein or mRNA levels were observed across groups. Conclusion: Our findings suggest that MAP17 and the Akt signaling pathway play a crucial role in promoting the progression of PTC. Inhibition of MAP17 suppresses cell viability and induces apoptosis, indicating that MAP17 may be a promising therapeutic target for PTC. The data also highlight the potential for targeting the MAP17-Akt axis in developing future treatments for PTC.

Abstract in English:

ABSTRACT Objective: This study aimed to evaluate the impact of the Brazilian Cardioprotective Nutrition Program (BALANCE Program) on the plasma levels of various apolipoproteins (A-I, A-II, B, C-II, C-III, and E) and lipid biomarkers over a three-year follow-up period in individuals undergoing secondary cardiovascular prevention. Subjects and methods: This exploratory analysis included 276 patients aged 45 years or older with a history of cardiovascular disease within the preceding decade. Participants were randomly assigned to one of two groups and monitored over three years: the BALANCE Program group (intervention group; n = 123) and the control (conventional nutritional advice; n = 153). Assessments of clinical and lifestyle data, anthropometry, food intake, plasma apolipoproteins, and lipid profiles were conducted at baseline and at the 3-year follow-up. Intervention adherence was measured utilizing the BALANCE dietary index. Results: By the end of the follow-up period, adherence was significantly higher in the intervention group (mean difference BALANCE-control [95% CI]: 2.09 points [-0.19; 4.37]), mainly due to increased consumption of fruits, vegetables, legumes, and low-fat dairy products. There were no significant differences in plasma apolipoprotein levels between the groups throughout the study. Nevertheless, significant reductions were observed in the total cholesterol and non-HDL cholesterol levels in the BALANCE group compared to the control group (mean difference intervention-control [95% CI]: -9.95 mg/dL [-18.5; -1.39] and -8.86 mg/dL [-17.53; -0.2], respectively). Conclusion: Following three years of intervention, despite higher adherence to the BALANCE Program, there were no significant changes in plasma apolipoprotein concentrations or overall lipid biomarkers.

Abstract in English:

ABSTRACT Objective: In this study, our aim was to search for new genotype-phenotype correlations in patients with Von Hippel-Lindau (VHL) disease. Subjects and methods: We retrospectively studied 53 consecutive patients with VHL disease and confirmed genetic diagnoses from 32 relatives. Results: Most VHL pathogenic or likely pathogenic variants were missense (18 out of 32; 56.25%). The median size of the large carcinoma (RCC) was 3.6 cm (interquartile range, 2.8 to 6.5 cm). Interestingly, the size of the large RCC in patients harboring VHL pathogenic variants (n = 9) was significantly greater than that in patients with VHL likely pathogenic (n = 7) variants (5.4 cm [3.65 to 6.6] vs. 2.9 cm [2.45 to 3.35]; p = 0.008). Moreover, adrenal paraganglioma (PGL) (82.35% vs. 17.65%; p = 0.0001) and pancreatic neuroendocrine tumor (PNET) (81.81% vs. 18.18%; p = 0.007) were associated with missense VHL pathogenic or likely pathogenic variants compared with non-missense defects. In contrast, central nervous system (CNS) hemangioblastomas (HBs) (90.47% vs. 53.12%; p = 0.004), pancreatic cysts (76.19% vs. 28.12%; p = 0.001) and RCCs (57.14% vs. 12.5; p = 0.001) were more common in patients with non-missense VHL variants. Conclusion: VHL pathogenic variants were associated with larger RCCs than were VHL likely pathogenic variants.

Abstract in English:

ABSTRACT TheBrazilian Dietary Guidelines provide crucial recommendations for a healthy diet, aiming at promoting health and preventing non-communicable chronic diseases. The core principle is the preference for natural or minimally processed foods and freshly prepared dishes over ultra-processed foods. Despite their growing recognition, healthcare professionals struggle to integrate these guidelines into clinical practice. This article aims to present two innovative strategies for incorporating the Brazilian Dietary Guidelines into healthcare. The Protocols based on the Brazilian Dietary Guidelines for Individual Dietary Advice are standardized clinical tools to support healthcare professionals (nutritionists or not) in giving nutritional advice during individual appointments to various life stages. The Protocols operationalize the assessment of individuals’ dietary patterns using the Food Consumption Markers Questionnaire and support the delivery of personalized and priority recommendations through a stepwise flowchart. Conversely, Brazilian Dietary Guidelines-based Meal Plans consist of personalized dietary prescriptions comprising structured daily menus that, unlike conventional plans primarily focusing on nutrient goals, prioritize overall eating patterns guided by the Brazilian Dietary Guidelines. The proposal encourages, in the first place, the selection of a variety of culinary preparations based on natural or minimally processed foods, emphasizing tasteful, accessible, and culturally appropriate choices as the initial step. In a second step, these plans can be customized to individual energy requirements, and adjustments made based on strategic nutrient needs. This article aims to support the enhancement of healthcare professionals’ skills in promoting healthy eating practices, thereby contributing to improved health and a reduced disease burden among the Brazilian population.

Abstract in English:

ABSTRACT Selenium(Se) is an essential micronutrient for several immune and regulatory functions in the body. In thyroid tissue, Se contributes to the antioxidant system and is a crucial component of deiodinases, which are selenoproteins that participate in thyroid hormone metabolism. Additionally, this micronutrient exerts a significant impact on thyroid pathophysiology, as low levels of Se lead to reduced activity of glutathione peroxidase, a selenoprotein involved in antioxidative processes, thereby resulting in increased oxidative stress and damage to thyroid tissue. Selenium deficiency (SeD) can cause growth retardation and reproductive failure; in women and children, it may result in Keshan’s disease and Kashin-Beck’s disease. Research has shown an inverse correlation between Se serum levels and autoimmune thyroiditis in areas with mild SeD. In Graves’ disease, Se supplementation has been linked to faster achievement of euthyroidism as well as improvements in quality of life, lessened orbital involvement, and slower ocular progression of the disease. Furthermore, several studies suggest an association between serum SeD and the development of thyroid cancer. Maintaining physiological Se concentrations appears to be related to the prevention of thyroid disease, although current data are insufficient to conclusively support or refute the efficacy of supplementation. Through this narrative review, we aim to present the latest information on the role of selenium in thyroid pathophysiology. To identify relevant literature, specific search strategies were employed in the electronic databases PubMed, Lilacs, and SciELO.