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ABSTRACT Sitosterolemia is a rare genetic lipid disorder caused by mutations in the ABCG5/ABCG8, genes. It is characterized by plasmatic plant sterols accumulation, formation of tendon and tuberous xanthomas and early onset coronary artery disease. The differential diagnosis with other congenital dyslipidemias presents significant challenges. We describe a case of a male patient who presented with hypercholesterolemia and tendinous xantomas from the age of 5. The patient was born to consanguineous parents, with no family history of hypercholesterolemia. With the initial hypothesis of cerebrotendinous xanthomatosis, he was treated with chenodeoxycholic acid, which yielded no improvement. Over time, he developed persistent thrombocytopenia and arthralgia, and experienced an acute myocardial infarction at the age of 27. Genetic analysis revealed the previously known p.Trp361*mutation in homozygosity in the ABCG8 gene and was negative for CYP27A1 variants, associated with cerebrotendinous xanthomatosis. The subsequent introduction of a diet with vegetable fats restriction and administration of ezetimibe resulted in an excellent response. The diagnosis of congenital hypercholesterolemia is challenging due to the low prevalence and heterogenous presentation of the condition. This case underscores the importance of clinical suspicion and the confirmation of the molecular diagnosis for a precise therapeutic management.

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Abstract Laminopathiesrepresent a rare group of genetic disorders affecting various organs and tissues, including the skin, muscles, adipose tissue, bone, and cardiovascular system. The LMNA gene, the most common pathogenic gene responsible for laminopathies, harbors variants that can lead to diverse clinical phenotypes, such as progeroid syndromes, lipodystrophies, muscular dystrophies, and cardiomyopathies. This report presents a case of a young female patient who presented with prediabetes, secondary amenorrhea, and secondary osteoporosis. A 28-year-old female presented to our clinic with complaints of amenorrhea and decreased bone mineral density. She exhibited pronounced facial abnormalities and underdeveloped secondary sexual characteristics. Laboratory investigations revealed hypergonadotropic hypogonadism, prediabetes and hyperlipidemia. Significant mitral annular calcification was revealed via echocardiography. Genetic analysis revealed a de novo variant in exon 1 of the LMNA gene. This case reveals a novel laminopathy overlapping with the clinical features of Malouf syndrome while also exhibiting additional progeroid features, representing a distinct laminopathy. Furthermore, unlike previously reported cases with this genotype, it does not correspond to a progeroid syndrome typically associated with LMNA variants. Additionally, this case report is accompanied by a review of the relevant literature.

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ABSTRACT Objective: Conditions related to iodine status (IS) during pregnancy should be addressed to improve public health strategies. The aim of this study was to analyze the relationship between diet quality (DQ), assessed by the adapted Healthy Eating Index-2015 (HEI-2015), and IS in pregnant women from a Brazilian coastal state where public health policies assure iodine-fortified table salt in concentrations ranging from 15 to 45 mg/kg. Subjects and methods: In a cross-sectional study, 199 participants were evaluated on three different days during their first trimester of pregnancy. At every visit, a urinary spot sample was requested to assess the urinary iodine concentration (UIC), and a 24-hour dietary recall related to the time at which the urine was collected was also performed. Total and component scores were estimated for the HEI-2015. The association between DQ and the IS was evaluated, considering an adequate UIC (150-249 μg/L) as the reference group (RG). Results: The median total score for the HEI-2015 was 45.8 points, which was slightly better (48.1 points) in the insufficient UIC (UIC <150-249 μg/L) than in the RG (41.3 points). In the “more than adequate” and “excessive” IS groups, the scores were 40.7 and 44.6 points, respectively. Conclusion: Pregnant women with insufficient IS had better DQ and higher consumption of fruits and vegetables, as did those with lower intake of refined grains. We suppose that these groups benefit from iodine supplementation during pregnancy even when they live in a coastal state where table salt is fortified with iodine. In contrast, excessive UIC was related to worse intake of “whole fruits”, “total fruits” and “total vegetables”. The results suggest that diet quality is related to iodine status in the studied population. Pregnant women with better diet quality, especially those with high consumption of total protein foods, fruits and vegetables and low consumption of refined grains, may be at risk for iodine insufficiency. The necessity of iodine supplementation for pregnant women should be better explored even in regions where iodine-fortified table salt is adopted as a public health policy.

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ABSTRACT Objective: Non-traumatic amputation resulting from diabetic foot infection (DFI) poses significant clinical and public health concerns. The C-reactive protein (CRP)/albumin ratio represents a combination of the infection level and nutritional status. This study investigated the relationship between the CRP/albumin ratio and amputation in patients with diabetic foot infections. Subjects and methods: Patients with a DFI of Wagner grade. 3 diagnosed between January 2020 and September 2023 were retrospectively analyzed. The association between the CRP/albumin ratio and amputation was explored using multivariable logistic regression modeling. Stratified analyses were also performed to ensure the reliability of the findings. Results: Of 301 enrolled patients, 226 underwent amputation and 75 did not. The amputation rate increased with a greater CRP/albumin ratio in the non-adjusted, minimally adjusted, and fully adjusted models, regardless of whether the CRP/albumin ratio was regarded as a categorical or continuous variable. Conclusion: An increased CRP/albumin ratio was associated with a greater risk of amputation in individuals with DFI.

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Abstract Objective: To assess whether plasma irisin is associated with anthropometric, body composition, and metabolic parameters according to body mass index. Methods: A prospective cohort study was conducted at a tertiary referral hospital in Southern Brazil. Patients were divided according to body mass index: Group 1 (body mass index = 18.5 - 29.9 kg/m2; n = 15), Group 2 (body mass index = 30 - 39.9 kg/m2; n = 36), and Group 3 (body mass index ≥ 40 kg/m2; n = 30). Groups 1 and 2 underwent cholecystectomy, while Group 3 underwent Roux-en-Y gastric bypass. All groups were evaluated at baseline, and Groups 2 and 3 were re-evaluated 6 months later. Body composition was assessed using X-ray absorptiometry, and resting energy expenditure was measured by indirect calorimetry. Results: The study subjects were predominantly female (75%), white (82%), with a mean age of 46 ± 14 years. Group 3 had lower irisin levels compared to Group 2: 9.1 ± 2.2 versus 10.7 ± 2.8 ng/mL; p = 0.038). Irisin was negatively correlated with weight (r = -0.246; p = 0.042), waist circumference (r = -0.272; p = 0.024), glucose (r = -0.259; p = 0.039), glycated hemoglobin (r = -0.283; p = 0.024), triglycerides (r = -0.414; p = 0.024), and positively correlated with HDL (r = 0.280; p = 0.029). Conclusion: Irisin showed an inverse correlation with insulin-related metabolic pathways, suggesting its potential involvement in insulin resistance states such as obesity and type 2 diabetes.

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Abstract Objective: To ascertain the impact of combining sodium-glucose cotransporter 2 inhibitors (SGLT2is) with thiazolidinediones on fluid balance in patients with type 2 diabetes mellitus. Methods: This prospective study followed patients over a 6-month period, with data collected at three time points. The study commenced with the administration of pioglitazone on the same day. At the 3-month mark of the study, SGLT2is (dapagliflozin or empagliflozin) were subsequently integrated into the patients’ treatment regimens. At each time point, bioimpedance spectroscopy was employed to the volume status of the patients, and an assessment of their glycemic, renal, and lipid parameters was conducted. Their fluid status was evaluated on the basis of the overhydration value and the relative hydration index. Results: The study sample consisted of 60 type 2 diabetes mellitus patients with a mean age of 52.5 years. While notable increases in the mean overhydration value and relative hydration index were observed during the initial 3-month period (p < 0.001), a significant decline was evident in the second 3-month period (p < 0.001). However, no significant change in the adipose tissue index, fat mass, or body cell mass was found at the 6-month follow-up. Significant improvements were achieved in liver function test results, glycemic parameters, and the lipid profile. Renal parameters did not change significantly during the 6-months of follow-up. Conclusion: SGLT2is have been shown to be effective in improving fluid retention associated with thiazolidinediones and in maintaining euvolemic fluid status.

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ABSTRACT Objective: To evaluate whether inflammatory markers and carotid intima-media thickness are increased in patients with Sheehan syndrome. Methods: This study included 37 patients diagnosed with Sheehan syndrome who met the eligibility criteria, along with 37 healthy controls matched for age, body mass index, and parity. All participants underwent a detailed clinical evaluation, along with measurement of biochemical and hormonal parameters, as well as inflammatory markers, specifically tumor necrosis factor alpha and interleukin-6. Both patients and controls were assessed for carotid intima-media thickness using a high-resolution color Doppler system. Results: Patients with Sheehan syndrome had significantly higher mean levels of triglycerides, total cholesterol, and low-density lipoprotein cholesterol, along with lower levels of high-density lipoprotein cholesterol compared with controls. They also exhibited higher levels of tumor necrosis factor alpha (23.41 ± 10.97 pg/mL versus 20.05 ± 2.76 pg/mL; p = 0.041) and interleukin-6 (37.19 ± 5.38 pg/mL versus 32.08 ± 1.18 pg/mL; p = 0.004), as well as an increased mean carotid intima-media thickness value (0.71 ± 0.07 mm versus 0.59 ± 0.05 mm; p = 0.001). Conclusion: Patients with Sheehan syndrome exhibited risk factors that may elevate their likelihood of developing atherosclerosis.

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ABSTRACT Objective: To quantify moderate-to-vigorous physical activity (MVPA) at postpartum in women with recent gestational diabetes mellitus, using an accelerometer and self-reported measurements from participants of the LINDA-Brasil study. Materials and methods: In a cross-sectional sample (n = 391), MVPA was assessed via a waist-worn accelerometer and the international physical activity questionnaire (IPAQ), focusing on leisure time and commuting domains. Results: The median postpartum period was 7.3 months (interquartile range [IQR]: 4.0-14.0). When restricted to 10-minute bouts, device-measured MVPA was 22.31 minutes/week (IQR: 0-65.8), whereas total time spent on MVPA was 213.8 minutes/week (IQR: 137.7-320.0). Higher education and pregnancy complications were associated with lower device-based MVPA. Self-reported leisure-time MVPA in 10-minute bouts was 0 minutes/week (IQR: 0-0). However, including commuting time, it increased to 90 minutes/week (IQR: 10.0-210.0). Based on total device-measured MVPA, 71.6% (CI 66.9-76.0) met the recommended 150 minutes/week. This proportion decreased to 8.4% (95% CI: 5.9-11.7) in 10-minute bouts MVPA. Based on the IPAQ, 7.4% (95% CI: 5.0-10.5) reached the guideline through leisure-time activity and 26.8% (95% CI: 22.5-31.5) through combined leisure and commuting. Conclusion: Women with gestational diabetes mellitus at postpartum were highly active based on device-measured MVPA. Nevertheless, applying the 10-minute bout reduced these estimates across devices and self-reported measurements. These findings provide crucial information for public policies addressing this high-risk population.

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ABSTRACT Objective: To validate the psychometric properties of the Eating Behavior Phenotypes Scale (EFCA) and to analyze the stability of the construct and its external validity in Brazilian Portuguese. Subjects and methods: A total of 206 adult participants completed a self-administered survey designed to identify eating behavior phenotypes. Confirmatory factor analysis was performed, and internal consistency was assessed using Cronbach’s alpha coefficient. Concurrent validity was evaluated through Pearson’s correlation between EFCA scores and body mass index. Translation involved independent forward translation from Argentinian Spanish to Brazilian Portuguese, followed by back-translation from Brazilian Portuguese to Spanish. The Brazilian Portuguese version was administered following 100% agreement between the versions. Results: The EFCA and its subscales in Brazilian Portuguese showed acceptable internal consistency (α = 0.83). Conclusion: Confirmatory factor analysis indicated a good fit of the data to the proposed structure. No statistically significant correlation was found between the body mass index and each subscale or the total scale score. The translation and back-translation process yielded less than a 5% discrepancy between the versions.

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ABSTRACT Objective: To investigated how miR-195-5p affects oxidative stress and modulates aerobic metabolism. Materials and methods: MiR-195-5p plus GLS2 mRNA was identified by conducting real-time quantitative polymerase chain reaction. Western blotting was conducted to determine GLS2 protein expression. Corresponding kits were used to determine the concentrations of glutamate, reduced glutathione, oxidized glutathione, a-ketoglutarate, and adenosine triphosphate. The cell counting Kit-8 assay was performed to determine viability. Flow cytometry assay was performed to measure the reactive oxygen species content. Finally, a dual-luciferase reporter assay was conducted to confirm the interaction of miR-195-5p with GLS2 mRNA in the 3’UTR. Results: In high glucose-induced SRA01/04 cells, miR-195-5p was overexpressed, and GLS2 was downregulated. When miR-195-5p was upregulated, the levels of glutamate, reduced glutathione, a-ketoglutarate, and adenosine triphosphate, along with the reduced glutathione-to-oxidized glutathione ratio decreased, whereas the reactive oxygen species levels increased. Oxidative stress was ameliorated after miR-195-5p was downregulated. MiR-195-5p adversely controls the expression of GLS2 mRNA and protein. MiR-195-5p exacerbates oxidative damage and hinders aerobic metabolism by downregulating GLS2. Conclusion: Oxidative stress and aerobic metabolism in human lens epithelial cells were found to be regulated by miR-195-5p after the downregulation of GLS2.

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ABSTRACT Objective: To identify early manifestations of Graves’ disease in young patients and its treatment outcomes. Subjects and methods: This was a hospital-based review of case records of 47 children (aged 1 month to 18 years) with Graves’ disease from 2011 to 2022. Data were summarized and statistically analyzed. Results: This study included 47 patients with Graves’ disease, of whom 31 (66%) were girls. The average age at the initial diagnosis was 12.79 ± 3.75 years. Common presenting complaints included heat intolerance (76.6%), excessive sweating (74.5%), palpitations (68.1%), tremors (48.9%), weight loss (38.3%), increased appetite (34%), diarrhea (31.9%), and constipation (4.3%). The mean thyrotropin receptor antibody titer was 16.93 ± 13.47 IU/L. Remission was achieved in two (4.3%) patients treated with antithyroid drugs. Conclusion: Graves’ disease is the most common cause of juvenile hyperthyroidism, and treating physicians should be aware of its signs and symptoms to avoid treatment delays.

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Abstract Objective: To identify factors potentially associated with radioiodine-refractory disease among patients treated for differentiated thyroid carcinoma at a referral center in Northeastern Brazil. Methods: A total of 554 medical records of patients with differentiated thyroid carcinoma treated between January 2010 and August 2024 were evaluated. Radioiodine-refractory disease tumors were detected in 44 (7.9%) patients. Clinical, laboratory, and radiological data were compared between the radioiodine-refractory disease and non-radioiodine-refractory disease groups to determine factors associated with poor differentiated thyroid carcinoma outcomes. Results: Factors most strongly associated with progression to radioiodine-refractory disease included older age, increased number of surgeries performed, aggressive histological subtypes, larger tumor size, vascular invasion, extrathyroidal extension, compromised margins, lymph node metastasis, distant metastasis at diagnosis and during follow-up, higher malignant tumor classification staging, high risk of recurrence, high thyroglobulin levels prior to radioiodine therapy, higher doses and greater number of radioiodine therapy doses, and higher frequency of incomplete responses within the first year post-treatment. Conclusion: Identifying possible factors associated with radioiodine-refractory disease development may allow early diagnosis and a more effective treatment.

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ABSTRACT Objective: This study aimed to assess urinary selenium concentration (USC) and its correlation with non-thyroidal illness syndrome (NTIS) and inflammatory markers in hospitalized adult patients with COVID-19. Subjects and methods: A prospective study was conducted to investigate urinary selenium (Se) concentration in adult patients hospitalized with COVID-19 between June and August 2020. Urine and serum samples were collected before complications occurred, always within the first 48 hours after onset. A total of 121 patients were stratified into three tertiles based on USC: (i) USC < 25 μg/L (40), (ii) USC 25-39 μg/L (41), and (iii) USC > 39 μg/L (40). ICP-MS was employed to measure urinary Se concentration. NTIS was defined by free triiodothyronine below 2.3 pg/L accompanied by low or normal thyroid-stimulating hormone levels. Results: NTIS was observed in a low prevalence (5.7%) and was significantly associated with patients having the lowest USC (n = 6, p = 0.008). Thyroiditis was the most prevalent thyroid complication (23.9%); however, there was no significant association with USC (p > 0.05). Conclusion: The association between low USC and NTIS was evident in this cohort.

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Abstract Objective: Graves’ disease (GD) is the leading cause of hyperthyroidism globally, with 40% of affected individuals developing thyroid eye disease (TED). Treatment options for TED have advanced in recent years. This study aimed to investigate the prevalence of TED at a single center in Brazil, contributing more robust data for cost-analysis studies assessing the financial implications of novel TED treatments. Subjects and methods: This study evaluated the clinical histories of 660 patients diagnosed with GD from 1999 to 2019. The patients were categorized into four groups based on the presence and severity of TED. Results: The prevalence of TED within the study population, categorized according to severity, was as follows: absent (n = 325; 49%), mild (n = 221; 33%), moderate to severe (n = 107; 16%), and sight-threatening (n = 7; 1%). A significant correlation was observed between older age at diagnosis, smoking, larger goiters, and the presence and severity of TED. Conclusion: The prevalence of TED identified in this single-center study contributes valuable insights for the design of cost-analysis studies and the assessment of the financial implications of novel treatments for TED within both the public and private healthcare systems in Brazil.

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ABSTRACT Introduction: Oxyntomodulin (OXM) is a polypeptide hormone of the incretin family, which binds to the glucagon-like peptide 1 receptor, contributing to a reduction in caloric intake, an increase in energy expenditure, and weight loss in obese individuals. Polycystic ovary syndrome (PCOS) is a multifactorial condition characterized by reproductive and metabolic dysfunctions, with a high prevalence among overweight and obese women. This study aimed to investigate the correlation between clinical, anthropometric, endocrine, and metabolic variables and plasma OXM levels in women diagnosed with PCOS. Subjects and methods: This cross-sectional study included 20 women recently diagnosed with PCOS. Participants underwent screening that assessed body measurements, as well as serum/plasma lipids, fasting glucose, fasting insulin, irisin, and total testosterone levels. Plasma OXM concentrations were measured in duplicate using a commercial ELISA kit. Results: OXM levels were positively correlated with age (r = 0.493, p = 0.027); however, they showed no significant correlation with body mass index, waist circumference, lipid accumulation product index, visceral adiposity index, or hormones such as insulin, irisin, and testosterone. Furthermore, plasma OXM levels remained unchanged in a subgroup of patients treated with metformin for 60 days. Conclusion: These findings suggest that plasma OXM levels may not reflect body composition or insulin resistance in women with PCOS.