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Archives of Endocrinology and Metabolism, Volume: 67, Número: 4, Publicado: 2023
  • Increasing agility and visibility in scientific publishing Editorial

  • Factors that cause women with osteoporosis to fall Original Article

    Correa, Renata Gonçalves Pinheiro; Pivovarsky, Madeline Luiza Ferreira; Santos, Guilherme da Silva; Gomes, Anna Raquel Silveira; Borba, Victoria Zeghbi Cochenski

    Resumo em Inglês:

    ABSTRACT Objectives: To analyze and compare intrinsic and extrinsic factors that cause falls among women receiving treatment for osteoporosis. Subjects and methods: A cross-sectional study of women ≥50 years receiving treatment for osteoporosis. Participants filled out questionnaires (demographic characteristics), and researchers took anthropometric measurements of bone mineral density, handgrip strength (HGS), ankle range of motion (ROM), and gait speed (GS). We also evaluated the Timed Up and Go Test (TUGT), Five Times Sit-to-Stand Test (SST), and Falls Efficacy Scale–International (FES-I) and investigated the extrinsic factors for falls. Results: We included 144 participants (71.6 [8.3 years]), who reported 133 falls. We classified participants into a non-faller group (NFG; 0 falls, n = 71, 49.5%), a faller group (FG; 1 fall, n = 42, 28.9%), and a recurrent-faller group (RFG; more than 1 fall, n = 31, 21.5%). Most patients had an increased risk of falling according to the TUGT, SST, reduced ankle ROM, and GS (P < .005 for all). FES-I was associated with sporadic and recurrent falls. For the multivariate analysis, the number of falls was influenced by the presence of ramps (RR 0.48, 95% CI, 0.26-0.87, P = .015), uneven surfaces (RR 1.6, 95% CI. 1.05-2.43, P = .028), and antislippery adhesive on stairs (RR 2.75, 95% CI, 1.77-4.28, P < .001). Conclusion: Patients receiving treatment for osteoporosis are influenced by intrinsic and extrinsic factors that cause falls. Lower-limb strength and power-discriminated participants at a higher risk of falls, but extrinsic factors varied. Only uneven floors and antislippery adhesives on stairs were associated with increased frequency of falls.
  • Thyroid malignancy in children: where does it locate? Original Article

    Cinar, Hasibe Gokce; Uner, Cigdem; Kadirhan, Ozlem; Aydin, Sonay

    Resumo em Inglês:

    ABSTRACT Objective: As far as we know, in English literature, a limited number of studies has examined the relationship between the location of the nodule and malignancy risk. The studies were performed with adults and their results were mainly inconsistent. We aim to evaluate the potential association between the location of the thyroid nodules and risk for malignancy in the pediatric population. Materials and methods: Patients younger than 18 years old with a pathological diagnosis were included. Nodules were divided into 5 categories according to the Thyroid Imaging Reporting and Data System (TI-RADS) algorithm. The location of the nodules was recorded: Right lobe, left lobe, isthmus, upper pole, lower pole, and middle. Thyroid glands were divided into 3 equal longitudinal areas to define upper, lower, and middle portions. Results: Ninety-seven nodules of 103 children were included. The mean age of the population was 14.9 ± 2.51 years (7-18 years). Eighty-one participants were female (83.5%) and 16 male (16.5%). Fifty nodules were benign (51.5%) and 47 nodules were malignant (48.5%). We did not detect a significant correlation between the risk of malignancy and location of the nodule as right or left lobes or isthmus (P = 0.38). Rate of malignant nodules were significantly higher in middle lobe (23%, P = 0.002). Being located at middle part of thyroid gland increases the possibility of malignancy 11.3 times (OR = 11.3, P = 0.006). Conclusion: Nodule location can be used as a predictor for thyroid malignancy in pediatric patients, similar to adults. Middle lobe location increases the risk of malignancy. Using nodule location along with TI-RADS categorization can increase the efficacy of malignancy prediction.
  • Integrated bioinformatics approach reveals methylation-regulated differentially expressed genes in obesity Original Article

    Duarte, Guilherme Coutinho Kullmann; Pellenz, Felipe; Crispim, Daisy; Assmann, Tais Silveira

    Resumo em Inglês:

    ABSTRACT Objective: To identify DNA methylation and gene expression profiles involved in obesity by implementing an integrated bioinformatics approach. Materials and methods: Gene expression (GSE94752, GSE55200, and GSE48964) and DNA methylation (GSE67024 and GSE111632) datasets were obtained from the GEO database. Differentially expressed genes (DEGs) and differentially methylated genes (DMGs) in subcutaneous adipose tissue of patients with obesity were identified using GEO2R. Methylation-regulated DEGs (MeDEGs) were identified by overlapping DEGs and DMGs. The protein–protein interaction (PPI) network was constructed with the STRING database and analyzed using Cytoscape. Functional modules and hub-bottleneck genes were identified by using MCODE and CytoHubba plugins. Functional enrichment analyses were performed based on Gene Ontology terms and KEGG pathways. To prioritize and identify candidate genes for obesity, MeDEGs were compared with obesity-related genes available at the DisGeNET database. Results: A total of 54 MeDEGs were identified after overlapping the lists of significant 274 DEGs and 11,556 DMGs. Of these, 25 were hypermethylated-low expression genes and 29 were hypomethylated-high expression genes. The PPI network showed three hub-bottleneck genes (PTGS2, TNFAIP3, and FBXL20) and one functional module. The 54 MeDEGs were mainly involved in the regulation of fibroblast growth factor production, the molecular function of arachidonic acid, and ubiquitin-protein transferase activity. Data collected from DisGeNET showed that 11 of the 54 MeDEGs were involved in obesity. Conclusion: This study identifies new MeDEGs involved in obesity and assessed their related pathways and functions. These results data may provide a deeper understanding of methylation-mediated regulatory mechanisms of obesity.
  • Maternal prepregnancy obesity and gestational diabetes influence on adverse perinatal outcomes Original Article

    Carvalho, Leonardo Souza de; Oliveira, Antônia Aparecida Deluca de; Grabovski, Tassiana Cristina Martins; Renzo, Carla Christina; Silva, Rodrigo Ribeiro e; Loz, Sabrina Hafemann; Silva, Jean Carl

    Resumo em Inglês:

    ABSTRACT Objective: Evaluate the influence of isolated and associated prepregnancy obesity and gestational diabetes mellitus (GDM) on adverse perinatal outcomes. Materials and methods: Cross-sectional observational study with women who delivered at a Brazilian Maternity Hospital, between August and December 2020. Data were collected by interview with application form, and medical records. Sample was stratified by body mass index (BMI) and GDM screening in four groups: no obesity (BMI < 30 kg/m2) no GDM – reference; isolated GDM; isolated obesity (BMI ≥ 30 kg/m2); and obesity with GDM. Preeclampsia (PE), cesarean section (CS), large-for-gestational-age (LGA) newborn and admission to neonatal intensive care unit (NICU) were analyzed by odds ratio (OR) adjusted for confounding factors, adopting 95% confidence interval (CI) and P < 0.05 statistically significant. Results: From 1,618 participants, isolated obesity group (233/14.40%) had high chance of PE (OR = 2.16; CI: 1.364-3.426; P = 0.001), isolated GDM group (190/11.74%) had high chance of CS (OR = 1.736; CI: 1.136-2.652; P = 0.011) and NICU admission (OR = 2.32; CI: 1.265-4.261; P = 0.007), and obesity with GDM group (121/7.48%) had high chance of PE (OR = 1.93; CI: 1.074-3.484; P = 0.028), CS (OR = 1.925; CI: 1.124-3.298; P = 0.017) and LGA newborn (OR = 1.81; CI: 1.027-3.204; P = 0.040), compared with reference (1,074/66.38%). Conclusion: Obesity and GDM enhances the chance of different negative outcomes, worsening this prognosis when associated.
  • Epidemiological profile of congenital hypothyroidism at a southern Brazilian state Original Article

    Boff, Márcia Inês; Kopacek, Cristiane; Souza, Vandrea Carla de; Ribeiro, Sabliny Carreiro; Kreisner, Edmundo; Vargas, Paula Regla; Mastella, Livia Silveira; Madi, José Mauro; Castro, Simone Martins de; Rahmi, Rosa Maria

    Resumo em Inglês:

    ABSTRACT Objective: To determine the incidence of congenital hypothyroidism (CH) over a 10-year period at the Reference Service in Neonatal Screening of the state of Rio Grande do Sul (RSNS-RS). Subjects and methods: Historical cohort study including all newborns screened for CH by the RSNS-RS from January 2008 until December 2017. Data of all newborns with neonatal TSH (neoTSH; heel prick test) values ≥ 9 mIU/L were collected. According to neoTSH values, the newborns were allocated into two groups: Group 1 (G1), comprising newborns with neoTSH ≥ 9 mIU/L and serum TSH (sTSH) < 10 mIU/L, and Group 2 (G2), comprising those with neoTSH ≥ 9 mIU/L and sTSH ≥ 10 mIU/L. Results: Of 1,043,565 newborns screened, 829 (0.08%) had neoTSH values ≥ 9 mIU/L. Of these, 284 (39.3%) had sTSH values < 10 mIU/L and were allocated to the G1 group, while 439 (60.7%) had sTSH ≥ 10 mIU/L and were allocated to the G2 group, and 106 (12.7%) were considered missing data. The overall incidence of CH was 42.1 per 100,000 newborns screened (95% confidence interval [CI] 38.5-45.7/100,000) or 1:2377 screened newborns. The sensibility and specificity of neoTSH ≥ 9 mIU/L were 97% and 11%; of neoTSH 12.6 mUI/L, 73% and 85% respectively. Conclusion: In this population, the incidence of permanent and transitory CH was 1:2377 screened newborns. The neoTSH cutoff value adopted during the study period showed excellent sensibility, which matters for a screening test.
  • Does a three-degree hypoechogenicity grading improve ultrasound thyroid nodule risk stratification and affect the TI-RADS 4 category? A retrospective observational study Original Article

    Delfim, Ricardo Luiz Costantin; Assumpção, Lia Roque; Lopes, Flávia Paiva Proença Lobo; Teixeira, Patrícia de Fátima dos Santos

    Resumo em Inglês:

    ABSTRACT Objective: The aim of this study was to determine whether classifying hypoechogenicity in three degrees (mild, moderate, and marked) could improve the distinction between benign and malignant nodules and whether such an approach could influence Category 4 of the Thyroid Imaging Reporting and Data System (TI-RADS). Materials and methods: In total, 2,574 nodules submitted to fine needle aspiration, classified by the Bethesda System, were retrospectively assessed. Further, a subanalysis considering solid nodules without any additional suspicious findings (n = 565) was performed with the purpose of evaluating mainly TI-RADS 4 nodules. Results: Mild hypoechogenicity was significantly less related to malignancy (odds ratio [OR]: 1.409; CI: 1.086-1.829; p = 0.01), compared to moderate (OR: 4.775; CI: 3.700-6.163; p < 0.001) and marked hypoechogenicity (OR: 8.540; CI: 6.355-11.445; p < 0.001). In addition, mild hypoechogenicity (20.7%) and iso-hyperechogenicity (20.5%) presented a similar rate in the malignant sample. Regarding the subanalysis, no significant association was found between mildly hypoechoic solid nodules and cancer. Conclusion: Stratifying hypoechogenicity into three degrees influences the confidence in the assessment of the rate of malignancy, indicating that mild hypoechogenicity has a unique low-risk biological behavior that resembles iso-hyperechogenicity, but with minor malignant potential when compared to moderate and marked hypoechogenicity, with special influence on the TI-RADS 4 category.
  • Prediction for recurrence following antithyroid drug therapy for Graves’ hyperthyroidism Original Article

    Weng, Huan; Tian, Wen Bo; Xiao, Zi Dong; Xu, Lin

    Resumo em Inglês:

    ABSTRACT Objective: A common problem with antithyroid drugs (ATD) treatment in patients with Graves’ disease (GD) is the high recurrence rate after drug withdrawal. Identifying risk factors for recurrence is crucial in clinical practice. We hereby prospectively analyze risk factors for the recurrence of GD in patients treated with ATD in southern China. Subjects and methods: Patients who were newly diagnosed with GD and aged > 18 years were treated with ATD for 18 months and followed up for 1 year after ATD withdrawal. Recurrence of GD during follow-up was assessed. All data were analyzed by Cox regression with P values < 0.05 considered statistically significant. Results: A total of 127 Graves’ hyperthyroidism patients were included. During an average follow-up of 25.7 (standard deviation = 8.7) months, 55 (43%) had a recurrence within 1 year after withdraw of anti-thyroid drugs. After adjustment for potential confounding factors, the significant association remained for the presence of insomnia (hazard ratio (HR) 2.94, 95% confidence interval (CI) 1.47-5.88), greater goiter size (HR 3.34, 95% CI 1.11-10.07), higher thyrotrophin receptor antibody (TRAb) titer (HR 2.66, 95% CI 1.12-6.31) and a higher maintenance dose of methimazole (MMI) (HR 2.14, 95% CI 1.14-4.00). Conclusions: Besides conventional risk factors (i.e., goiter size, TRAb and maintenance MMI dose) for recurrent GD after ATD withdraw, insomnia was associated with a 3-fold risk of recurrence. Further clinical trials investigating the beneficial effect of improving sleep quality on prognosis of GD are warranted.
  • Ghrelin and glucagon-like peptide-1 according to body adiposity and glucose homeostasis Original Article

    Lopes, Karynne Grutter; Silva Junior, Vicente Lopes da; Lopes, Fernanda de Azevedo Marques; Bouskela, Eliete; Souza, Maria das Graças Coelho de; Kraemer-Aguiar, Luiz Guilherme

    Resumo em Inglês:

    ABSTRACT Objective: We investigated the biological behavior of ghrelin and glucagon-like peptide-1 (GLP-1) after a standard liquid meal according to body adiposity and glucose homeostasis. Subjects and methods: This cross-sectional study included 41 individuals (92.7% women; aged 38.3 ± 7.8 years; BMI 32.2 ± 5.5 kg/m²) allocated into three groups according to body adiposity and glucose homeostasis, as follows: normoglycemic eutrophic controls (CON, n = 11), normoglycemic with obesity (NOB, n = 15), and dysglycemic with obesity (DOB, n = 15). They were tested at fasting and 30 and 60 min after the ingestion of a standard liquid meal in which we measured active ghrelin, active GLP-1, insulin, and plasma glucose levels. Results: As expected, DOB exhibited the worst metabolic status (glucose, insulin, HOMA-IR, HbA1c) and an inflammatory status (TNF-α) at fasting, besides a more significant increase in glucose than postprandial NOB (p ≤ 0.05). At fasting, no differences between groups were detected in lipid profile, ghrelin, and GLP-1 (p ≥ 0.06). After the standard meal, all groups exhibited a reduction in ghrelin levels between fasting vs. 60 min (p ≤ 0.02). Additionally, we noticed that GLP-1 and insulin increased equally in all groups after the standard meal (fasting vs. 30 and 60 min). Although glucose levels increased in all groups after meal intake, these changes were significantly more significant in DOB vs. CON and NOB at 30 and 60 min post-meal (p ≤ 0.05). Conclusions: Time course of ghrelin and GLP-1 levels during the postprandial period was not influenced by body adiposity or glucose homeostasis. Similar behaviors occurred in controls and patients with obesity, independently of glucose homeostasis.
  • Osteonecrosis of the jaws in patients under osteoporosis treatment: a nine-year experience report Original Article

    Penoni, Daniela Cia; Canellas, João Vitor S.; Silami, Marcos Antonio Nunes Costa; Sader, Flávia; Pimentel Neto, Gonçalo Sobreira; Leão, Anna Thereza Thomé

    Resumo em Inglês:

    ABSTRACT Objective: This study aimed to report the experience of medication-related osteonecrosis of the jaws (MRONJ) in osteoporotic patients for nine years, and their associated initiating factors. Materials and methods: The numbers of invasive oral procedures (IOP) (tooth extraction, dental implant placement, and periodontal procedures) and removable prostheses performed from January 2012 to January 2021 were obtained from the digital records of a large public dental center. There were an estimated 6,742 procedures performed in patients under osteoporosis treatment. Results: Two cases (0.03%) of MRONJ were registered in nine years amongst patients with osteoporosis who had dental treatment at the center. From the 1,568 tooth extractions, one patient (0.06%) developed MRONJ. There was also one case from the 2,139 removable prostheses delivered (0.05%). Conclusions: The prevalence of MRONJ associated with osteoporosis treatment was very low. The protocols adopted seem to be adequate for the prevention of this complication. The findings of this study reinforce the rare frequency of MRONJ associated with dental procedures in patients submitted to the pharmacological management of osteoporosis. An integral analysis of systemic risk factors and oral preventive strategies may be considered regularly in the dental treatment of these patients.
  • Planned parathyroidectomy: the new standard in hypercalcemic crisis Original Article

    Neves, Murilo Catafesta das; Rosano, Marcello; Ohe, Monique Nakayama; Mello, Giulianno Molina de; Ribeiro, Davi Knoll; Santos, Rodrigo Oliveira

    Resumo em Inglês:

    ABSTRACT Objective: The study sought to determine the clinical features of hyperparathyroid-induced hypercalcemic crisis (HIHC) along with treatment options and outcomes. Subjects and methods: This is a retrospective analysis of our historical cohort of patients with primary hyperparathyroidism (PHPT). Patients were divided in groups according to their calcium levels and clinical presentation. HIHC (group 1) was assumed when patients had high calcium levels and needed emergency hospitalization. Group 2 was composed of patients with calcium levels above 16 mg/dL or patients who needed hospitalization for classical PHPT symptoms. Group 3 was composed of clinically stable patients with calcium levels between 14 and 16 mg/dL, who were electively treated. Results: Twenty-nine patients had calcium levels above 14 mg/dL. HIHC group had seven patients, and initial clinical measures had good response in two patients, moderate response in one patient, and poor response in four patients. All poor responders underwent immediate surgery, and one of them died due to HIHC complications. Group 2 had nine patients, and all were successfully treated during hospitalization. Group 3 had 13 patients, and all had a successful elective surgery. Conclusion: HIHC is a life-threatening condition that requires fast clinical intervention. Surgery is the only definitive treatment and should be planned for all patients. Poor response to initial clinical measures should direct treatment toward surgery to avoid disease progression and clinical deterioration.
  • Effects of COVID-19 pandemic lockdown on the metabolic control of type 2 diabetes mellitus in patients Original Article

    Eren, Mehmet Ali; Gönel, Ataman; Karaaslan, Hüseyin; Uyar, Nida; Cindoğlu, Çiğdem; Sabuncu, Tevfik

    Resumo em Inglês:

    ABSTRACT Objective: The effects of the COVID-19 pandemic on the control of diabetes mellitus in patients are largely unknown. In this study we aimed to analyze the impact of the pandemic and the ensuing lockdown on the management of type 2 diabetes mellitus. Subjects and methods: A total of 7,321patients with type 2 diabetes mellitus (4,501 from the pre-pandemic period, 2,820 from the post-pandemic period) were studied retrospectively. Results: The admission of patients with diabetes melitus (DM) decreased significantly during the pandemic (4,501 pre-pandemic vs. 2,820 post-pandemic; p < 0.001). The mean age of patients was statistically lower (51.5 ± 14.0 vs. 49.7 ± 14.5 years; p < 0.001), and the mean glycated hemoglobin (A1c) level was significantly higher (7.9% ± 2.4% vs. 7.3% ± 1.7%; p < 0.001) in the post-pandemic period than in the pre-pandemic. The female/male ratio was similar in both periods (59.9%/40.1% for pre-pandemic, 58.6%/41.4% for post-pandemic; p = 0.304). As calculated by month the pre-pandemic rate of women was higher only in January (53.1% vs. 60.6%, p = 0.02). Mean A1c levels were higher in the postpandemic period than in the same month of the previous year, excluding July and October (p = 0.001 for November, p < 0.001 for others). Postpandemic patients admitted to the outpatient clinic were significantly younger than prepandemic visits for July (p = 0.001), August (p < 0.001) and December (p < 0.001). Conclusion: The lockdown had detrimental effects on blood sugar management in patients with DM. Hence, diet and exercise programs should be adapted to home conditions, and social and psychological support should be provided to patients with DM.
  • Evaluation of subclinical atherosclerosis in obese patients with three noninvasive methods: Arterial stiffness, carotid intima-media thickness, and biomarkers of endothelial dysfunction Original Article

    Can, Mustafa; Kocabas, Muhammet; Yarar, Zeliha; Burgucu, Hatice Çalışkan; Karaköse, Melia; Yerlikaya, Fatma Hümeyra; Türkmen, Kültigin; Kulaksızoğlu, Mustafa; Karakurt, Feridun

    Resumo em Inglês:

    ABSTRACT Objective: In this study, we aimed to evaluate subclinical atherosclerosis in patients with obesity who had cardiovascular disease risk indicators such as arterial stiffness, which is evaluated using pulse wave velocity (PWV), carotid intima-media thickness (CIMT), and biomarkers of endothelial dysfunction such as endocan, ADAMTS97, and ADAMTS9. Subjects and methods: Sixty obese subjects, including 23 subjects with body mass index (BMI) ≥ 40, 37 subjects with BMI ≥ 30 but < 40, and 60 age-and sex-matched control subjects, were included in our study. Serum endocan, ADAMTS97, and ADAMTS9 levels as well as PWV and CIMT measurements of the subjects in the obese and control groups were performed. Results: In the obesity group, PWV levels were significantly higher than they were in the control group and endocan levels were significantly lower than they were in the control group. When we compared the obese group with BMI ≥ 40 and the control group, the BMI ≥ 40 group had significantly higher PWV and CIMT levels than the control group had, whereas endocan, ADAMTS7, and ADAMTS9 levels were similar to those of the control group. When we compared the obese group with BMI ≥ 30 < 40 to the control group, endocan levels were lower in the group with BMI ≥ 30 < 40, and PWV and CIMT levels were similar to the control group. Conclusions: We found that arterial stiffness and CIMT increased in obese patients with BMI ≥ 40 and that increased arterial stiffness was associated with age, systolic blood pressure, and HBA1C. In addition, we found that the endocan levels were lower in obese patients than they were in nonobese control individuals.
  • Guidelines from the Brazilian society of surgical oncology regarding indications and technical aspects of neck dissection in papillary, follicular, and medullary thyroid cancers Consensus

    Farias, Terence; Kowalski, Luiz Paulo; Dias, Fernando; Barreira, Carlos S. Ritta; Vartanian, José Guilherme; Tavares, Marcos Roberto; Vaisman, Fernanda; Momesso, Denise; Oliveira, Alexandre Ferreira; Pinheiro, Rodrigo Nascimento; Ribeiro, Heber Salvador de Castro

    Resumo em Inglês:

    ABSTRACT Objective: The purpose of these guidelines is to provide specific recommendations for the surgical treatment of neck metastases in patients with papillary, follicular, and medullary thyroid carcinomas. Materials and methods: Recommendations were developed based on research of scientific articles (preferentially meta-analyses) and guidelines issued by international medical specialty societies. The American College of Physicians’ Guideline Grading System was used to determine the levels of evidence and grades of recommendations. The following questions were answered: A) Is elective neck dissection indicated in the treatment of papillary, follicular, and medullary thyroid carcinoma? B) When should central, lateral, and modified radical neck dissection be performed? C) Could molecular tests guide the extent of the neck dissection? Results/conclusion: Recommendation 1: Elective central neck dissection is not indicated in patients with cN0 well-differentiated thyroid carcinoma or in those with noninvasive T1 and T2 tumors but may be considered in T3-T4 tumors or in the presence of metastases in the lateral neck compartments. Recommendation 2: Elective central neck dissection is recommended in medullary thyroid carcinoma. Recommendation 3: Selective neck dissection of levels II–V should be indicated to treat neck metastases in papillary thyroid cancer, an approach that decreases the risk of recurrence and mortality. Recommendation 4: Compartmental neck dissection is indicated in the treatment of lymph node recurrence after elective or therapeutic neck dissection; “berry node picking” is not recommended. Recommendation 5: There are currently no recommendations regarding the use of molecular tests in guiding the extent of neck dissection in thyroid cancer.
  • “Anti-obesity medications” or “medications to treat obesity” instead of “weight loss drugs” – why language matters – an official statement of the Brazilian Association for the Study of Obesity and Metabolic Syndrome (ABESO) and the Brazilian Society of Endocrinology and Metabolism (SBEM) Consensus

    Halpern, Bruno; Mancini, Marcio C.; Sande-Lee, Simone van de; Miranda, Paulo Augusto Carvalho

    Resumo em Inglês:

    ABSTRACT Obesity is largely undertreated, in part because of the stigma surrounding the disease and its treatment. The use of the term “weight loss drugs” to refer to medications for the treatment of obesity may contribute to this stigma, leading to the idea that anyone who wants to lose weight could use them and that short-term use, only in the active weight loss phase would be enough. On the contrary, the use of terms such as “medications to treat obesity” or “anti-obesity medications” conveys the idea that the treatment is directed at the disease rather than the symptom. This joint statement by the Brazilian Association for the Study of Obesity and Metabolic Syndrome (ABESO) and the Brazilian Society of Endocrinology and Metabolism (SBEM) intends to alert the press, healthcare professionals and scientific community about the importance of the appropriate use of language, with the aim of improving obesity care.
  • Pseudohypoaldosteronism type 1b in fraternal twins of a Chinese family: report of two cases and literature review Case Report

    Gao, Zhen; Sun, Jingjing; Cai, Cheng; Gong, Xiaohui; Ma, Li

    Resumo em Inglês:

    SUMMARY Here, we report the clinical observations of two Chinese fraternal twins who presented with severe dehydration, poor feeding, and absence of stimuli responses within a few days of birth. Trio clinical exome sequencing of the family identified compound heterozygous intronic variants (c.1439+1G>C and c.875+1G>A) in SCNN1A gene in these two patients. Sanger sequencing results showed that the c.1439+1G>C variant was inherited from the mother, and c.875+1G>A from the father, rarely reported in pseudohypoaldosteronism type 1 with sodium epithelial channel destruction (PHA1b) patients. Case 2 received timely symptomatic treatment and management after obtaining these results, which improved the clinical crisis. Our results suggest that the compound heterozygous splicing variants in SCNN1A were responsible for PHA1b in these Chinese fraternal twins. This finding extends the knowledge of the variant spectrum in PHA1b patients and highlights the application of exome sequencing in critically ill newborns. Finally, we discuss supportive case management, particularly in maintaining blood potassium concentration.
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