Pub Date : 2025-04-08DOI: 10.20945/2359-4292-2024-0432
Dinara Salimova, Tatevik Aloyan, Ursula Qureshi, Faisal Qureshi, Hina Wazir
Imatinibis a commonly used antiproliferative agent for treating chronic myelogenous leukemia and gastrointestinal stromal tumors, and it is also thought to be effective in other areas, such as rheumatologic diseases. It has been shown to improve glucose control in diabetic patients by lowering blood sugar, reducing HbA1c levels, and decreasing the need for diabetes medications. However, we present a rare occurrence of severe hyperglycemia and newly elevated HbA1c in a patient on imatinib with no prior history of diabetes. It underscores the need for further research to assess the safety and impact of imatinib on glucose metabolism.
{"title":"New onset diabetes manifesting as diabetic ketoacidosis in a patient with chronic myelogenous leukemia treated with imatinib.","authors":"Dinara Salimova, Tatevik Aloyan, Ursula Qureshi, Faisal Qureshi, Hina Wazir","doi":"10.20945/2359-4292-2024-0432","DOIUrl":"https://doi.org/10.20945/2359-4292-2024-0432","url":null,"abstract":"<p><p>Imatinibis a commonly used antiproliferative agent for treating chronic myelogenous leukemia and gastrointestinal stromal tumors, and it is also thought to be effective in other areas, such as rheumatologic diseases. It has been shown to improve glucose control in diabetic patients by lowering blood sugar, reducing HbA1c levels, and decreasing the need for diabetes medications. However, we present a rare occurrence of severe hyperglycemia and newly elevated HbA1c in a patient on imatinib with no prior history of diabetes. It underscores the need for further research to assess the safety and impact of imatinib on glucose metabolism.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 2","pages":"e240432"},"PeriodicalIF":1.6,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143812673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-04-08DOI: 10.20945/2359-4292-2024-0333
Laura Leite-Almeida, Rita Santos Silva, Margarida Vicente-Ferreira, Carla Costa, Norberto Estevinho, Cíntia Castro-Correia, Sofia Ferreira, Maria Bom-Sucesso
Objective: To characterize a cohort of pediatric thyroid cancer patients, focusing on clinical features and outcomes stratified by age. Subjects and.
Methods: This retrospective analysis included 63 pediatric differentiated thyroid cancer patients treated at a Portuguese pediatric reference hospital over a period of 20 years. Data extracted from clinical records covered demographics, clinical presentation, family history, tumor characteristics, treatment modalities, complications, disease status, and survival outcomes. Patients younger than 12 years were compared to those aged 12 and older.
Results: The mean age at diagnosis of the sample was 14.5 years, with a preponderance of female patients. Clinical presentation varied significantly between age groups; younger patients were more likely to present palpable cervical lymph nodes, while older patients frequently had solitary thyroid nodules. Family history and identifiable risk factors were similar across groups. However, older patients had higher rates of prior neoplasia and radiation exposure. Age also influenced surgical treatment and outcomes, including complications and recurrence rates.
Conclusion: Our findings corroborate previous evidence on the predominance of papillary carcinoma and the association between radiation exposure and thyroid cancer. Younger patients demonstrated more aggressive tumor characteristics and higher recurrence rates, underscoring the need for age-specific management strategies. Early detection, comprehensive surgical intervention, and multidisciplinary follow-up are essential for achieving optimal outcomes.
{"title":"Age-related characteristics in differentiated thyroid cancer: a 20-year single-center retrospective analysis in pediatric and adolescent patients.","authors":"Laura Leite-Almeida, Rita Santos Silva, Margarida Vicente-Ferreira, Carla Costa, Norberto Estevinho, Cíntia Castro-Correia, Sofia Ferreira, Maria Bom-Sucesso","doi":"10.20945/2359-4292-2024-0333","DOIUrl":"https://doi.org/10.20945/2359-4292-2024-0333","url":null,"abstract":"<p><strong>Objective: </strong>To characterize a cohort of pediatric thyroid cancer patients, focusing on clinical features and outcomes stratified by age. Subjects and.</p><p><strong>Methods: </strong>This retrospective analysis included 63 pediatric differentiated thyroid cancer patients treated at a Portuguese pediatric reference hospital over a period of 20 years. Data extracted from clinical records covered demographics, clinical presentation, family history, tumor characteristics, treatment modalities, complications, disease status, and survival outcomes. Patients younger than 12 years were compared to those aged 12 and older.</p><p><strong>Results: </strong>The mean age at diagnosis of the sample was 14.5 years, with a preponderance of female patients. Clinical presentation varied significantly between age groups; younger patients were more likely to present palpable cervical lymph nodes, while older patients frequently had solitary thyroid nodules. Family history and identifiable risk factors were similar across groups. However, older patients had higher rates of prior neoplasia and radiation exposure. Age also influenced surgical treatment and outcomes, including complications and recurrence rates.</p><p><strong>Conclusion: </strong>Our findings corroborate previous evidence on the predominance of papillary carcinoma and the association between radiation exposure and thyroid cancer. Younger patients demonstrated more aggressive tumor characteristics and higher recurrence rates, underscoring the need for age-specific management strategies. Early detection, comprehensive surgical intervention, and multidisciplinary follow-up are essential for achieving optimal outcomes.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 2","pages":"e240333"},"PeriodicalIF":1.6,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143813107","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-04-08DOI: 10.20945/2359-4292-2024-0065
María Gabriela García Falcone, Santiago Gonzalez Abbati, Soledad Sosa, Andrea Paes de Lima, Florencia Peralta, Karina Danilowicz
Doubleor multiple adenomas are rare, and synchronous secretory pituitary adenomas are rarer still. We report a case of a 30-year-old woman with a 6-year history of amenorrhea and occasional galactorrhoea. She presented with headaches, weight gain, subtle acromegalic features, new-onset hypertension and diabetes. Workup confirmed acromegaly and hyperprolactinemia. Preoperative magnetic resonance imaging of the pituitary demonstrated two noncontiguous microadenomas. Two distinct tumors were resected through a transsphenoidal approach. Immunohistochemical analysis of each separated adenoma confirmed the diagnosis of acromegaly and prolactinoma. Postoperatively, she was cured of acromegaly, and her amenorrhea/galactorrhea syndrome resolved. Her growth hormone and insulin-like growth factor-I levels normalized, whereas her prolactin level remained slightly above normal. Therefore, it is critical to consider double or multiple adenomas preoperatively through careful endocrine assessment and review of magnetic resonance imaging. As shown in our case, careful evaluation led to a better surgical outcome.
{"title":"Double pituitary adenoma associated with acromegaly and hyperprolactinemia: a case report.","authors":"María Gabriela García Falcone, Santiago Gonzalez Abbati, Soledad Sosa, Andrea Paes de Lima, Florencia Peralta, Karina Danilowicz","doi":"10.20945/2359-4292-2024-0065","DOIUrl":"https://doi.org/10.20945/2359-4292-2024-0065","url":null,"abstract":"<p><p>Doubleor multiple adenomas are rare, and synchronous secretory pituitary adenomas are rarer still. We report a case of a 30-year-old woman with a 6-year history of amenorrhea and occasional galactorrhoea. She presented with headaches, weight gain, subtle acromegalic features, new-onset hypertension and diabetes. Workup confirmed acromegaly and hyperprolactinemia. Preoperative magnetic resonance imaging of the pituitary demonstrated two noncontiguous microadenomas. Two distinct tumors were resected through a transsphenoidal approach. Immunohistochemical analysis of each separated adenoma confirmed the diagnosis of acromegaly and prolactinoma. Postoperatively, she was cured of acromegaly, and her amenorrhea/galactorrhea syndrome resolved. Her growth hormone and insulin-like growth factor-I levels normalized, whereas her prolactin level remained slightly above normal. Therefore, it is critical to consider double or multiple adenomas preoperatively through careful endocrine assessment and review of magnetic resonance imaging. As shown in our case, careful evaluation led to a better surgical outcome.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 2","pages":"e240065"},"PeriodicalIF":1.6,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143812540","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-04-08DOI: 10.20945/2359-4292-2024-0129
Bagdagul Yuksel Guler, Ibrahim Demirci, Cem Haymana, Alper Sonmez, Ahmet Faruk Yagci
Objective: To investigate the clinical characteristics of patients with gestational transient thyrotoxicosis and its possible impacts on pregnancy.
Methods: This retrospective study included pregnant women with gestational transient thyrotoxicosis who were admitted to our endocrinology outpatient clinic from June 2020 to March 2023. Patients with other causes of thyrotoxicosis, such as Graves' disease, toxic nodular goiter, and subacute thyroiditis, were excluded.
Results: The study included 50 pregnant women who met the inclusion criteria and whose data could be accessed. Two pregnant women were diagnosed with gestational diabetes, and two pregnancies resulted in abortion. We observed that thyroid-stimulating hormone levels normalized to euthyroid values at a mean gestational age of 18.3 ± 3.7 weeks. The mean gestational age at birth was 38 ± 1.8 weeks. The frequency of preterm labor, defined as delivery before 37 weeks, was 10% (n = 5). Sinus rhythm was observed in 87% of the electrocardiograms obtained during thyrotoxicosis, while sinus tachycardia was detected in four and sinus arrhythmia in two cases. Thyroid nodules were observed in 23 (47.9%) of 48 cases in which ultrasonography was performed during thyrotoxicosis. Discussion: This retrospective study, including 50 pregnant women with gestational transient thyrotoxicosis, found no increase in the rate of serious obstetric complications such as eclampsia/preeclampsia, gestational diabetes, preterm labor, or abortion. Notably, in a detailed examination of electrocardiograms, which has not been done in previous studies, we did not detect any serious, life-threatening arrhythmias, although tachycardia was observed.
{"title":"Risk factors associated with gestational transient thyrotoxicosis and their effects on the pregnancy course.","authors":"Bagdagul Yuksel Guler, Ibrahim Demirci, Cem Haymana, Alper Sonmez, Ahmet Faruk Yagci","doi":"10.20945/2359-4292-2024-0129","DOIUrl":"https://doi.org/10.20945/2359-4292-2024-0129","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the clinical characteristics of patients with gestational transient thyrotoxicosis and its possible impacts on pregnancy.</p><p><strong>Methods: </strong>This retrospective study included pregnant women with gestational transient thyrotoxicosis who were admitted to our endocrinology outpatient clinic from June 2020 to March 2023. Patients with other causes of thyrotoxicosis, such as Graves' disease, toxic nodular goiter, and subacute thyroiditis, were excluded.</p><p><strong>Results: </strong>The study included 50 pregnant women who met the inclusion criteria and whose data could be accessed. Two pregnant women were diagnosed with gestational diabetes, and two pregnancies resulted in abortion. We observed that thyroid-stimulating hormone levels normalized to euthyroid values at a mean gestational age of 18.3 ± 3.7 weeks. The mean gestational age at birth was 38 ± 1.8 weeks. The frequency of preterm labor, defined as delivery before 37 weeks, was 10% (n = 5). Sinus rhythm was observed in 87% of the electrocardiograms obtained during thyrotoxicosis, while sinus tachycardia was detected in four and sinus arrhythmia in two cases. Thyroid nodules were observed in 23 (47.9%) of 48 cases in which ultrasonography was performed during thyrotoxicosis. Discussion: This retrospective study, including 50 pregnant women with gestational transient thyrotoxicosis, found no increase in the rate of serious obstetric complications such as eclampsia/preeclampsia, gestational diabetes, preterm labor, or abortion. Notably, in a detailed examination of electrocardiograms, which has not been done in previous studies, we did not detect any serious, life-threatening arrhythmias, although tachycardia was observed.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 2","pages":"e240129"},"PeriodicalIF":1.6,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143812856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-04-03DOI: 10.20945/2359-4292-2024-0111
Alvaro Sanabria, Jose Luis Novelli, Erivelto Volpi, Ana Voogd, Santiago Zund, Luiz Paulo Kowalski, Juan Pablo Dueñas
Thyroidectomyis the most frequent endocrine surgical treatment for problems such as goiter, thyroid cancer, and Graves' disease. The global incidence of goiter ranges from 5%-20%, with a notably high frequency in less wealthy countries, and the incidence of thyroid cancer is on the rise due to the greater use of diagnostic imaging. Despite medical options, surgery remains essential. Surgical advancements such as blood vessel sealing technology, intraoperative laryngeal nerve neuromonitoring (IONM), remote access surgery, and parathyroid fluorescence have transformed thyroid surgery. Vessel sealing technologies reduce operative time and blood loss, whereas IONM preserves the laryngeal nerves. Remote access surgery, which includes a variety of techniques, produces results similar to those of open thyroidectomy with a longer operative time. Fluorescence enhances parathyroid detection and lowers the risk of temporary hypoparathyroidism. Economic studies reveal cost discrepancies, with advantages particularly visible in health care systems that depend on surgical time. While these advancements promise better patient outcomes, their accessibility and cost-effectiveness remain issues, particularly in Latin America. Recognizing these concerns, the Latin American Thyroid Society's Surgical Affairs Committee conducted an extensive review of emerging thyroid surgery technologies to guarantee their proper use in the area.
{"title":"Use of technologies in thyroid surgery: Latin American Thyroid Society Surgical Affairs Committee Expert Opinion. Part 1.","authors":"Alvaro Sanabria, Jose Luis Novelli, Erivelto Volpi, Ana Voogd, Santiago Zund, Luiz Paulo Kowalski, Juan Pablo Dueñas","doi":"10.20945/2359-4292-2024-0111","DOIUrl":"10.20945/2359-4292-2024-0111","url":null,"abstract":"<p><p>Thyroidectomyis the most frequent endocrine surgical treatment for problems such as goiter, thyroid cancer, and Graves' disease. The global incidence of goiter ranges from 5%-20%, with a notably high frequency in less wealthy countries, and the incidence of thyroid cancer is on the rise due to the greater use of diagnostic imaging. Despite medical options, surgery remains essential. Surgical advancements such as blood vessel sealing technology, intraoperative laryngeal nerve neuromonitoring (IONM), remote access surgery, and parathyroid fluorescence have transformed thyroid surgery. Vessel sealing technologies reduce operative time and blood loss, whereas IONM preserves the laryngeal nerves. Remote access surgery, which includes a variety of techniques, produces results similar to those of open thyroidectomy with a longer operative time. Fluorescence enhances parathyroid detection and lowers the risk of temporary hypoparathyroidism. Economic studies reveal cost discrepancies, with advantages particularly visible in health care systems that depend on surgical time. While these advancements promise better patient outcomes, their accessibility and cost-effectiveness remain issues, particularly in Latin America. Recognizing these concerns, the Latin American Thyroid Society's Surgical Affairs Committee conducted an extensive review of emerging thyroid surgery technologies to guarantee their proper use in the area.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 2","pages":"e240111"},"PeriodicalIF":1.6,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11968079/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-04-03DOI: 10.20945/2359-4292-2024-0417
Priscila Bellaver, Daisy Crispim, Lílian Rodrigues Henrique, Cristiane Bauermann Leitão, Ariell Freires Schaeffer, Tatiana Helena Rech, Diego Paluszkiewicz Dullius
Objective: To explore the association between diabetes and stress-induced hyperglycemia with skeletal muscle expression of key genes related to glucose transport.
Methods: This is a cross-sectional study. Skeletal muscle biopsies were taken from the left vastus muscle of critically ill adult patients within 24 hours of intensive care unit admission, and the expression of the genes of interest, namely insulin receptor substrate 1 (IRS1), insulin receptor substrate 2 (IRS2), solute carrier family 2 member 1 (SLC2A1), and solute carrier family 2 member 4 (SLC2A4), was analyzed using quantitative polymerase chain reaction. The primary analysis was planned to compare the gene expression pattern between patients with and without diabetes mellitus. The secondary analyses compared the gene expression in subgroups of patients with different levels of glycemia, glycemic variability, and glycemic gap.
Results: A total of 50 consecutive patients (15 with diabetes mellitus and 35 without diabetes mellitus) were included from April 2018 to September 2018. No differences in gene expression were found between patients with or without diabetes mellitus. Individuals with hyperglycemia > 200 mg/dL at intensive care unit admission exhibited a downregulation of IRS1 compared to those without (0.4 [0.1-0.8] versus 1.1 [0.3-2.2], p = 0.04). Similarly, patients with a glycemic gap ≥ 80 mg/dL exhibited a downregulation of IRS1 compared to those with a glycemic gap < 80 mg/dL (0.3 [0.1-0.7] versus 1 [0.4-2] p=0.04). There was no difference in gene expression between patients with glycemic variability higher or lower than 40 mg/dL.
Conclusion: No significant changes were found in skeletal muscle expression of IRS1, IRS2, SLC2A1, and SLC2A4 in critically ill patients with or without diabetes mellitus. However, IRS1 was downregulated in patients with stress-induced hyperglycemia.
{"title":"Stress-induced hyperglycemia and expression of glucose cell transport genes in skeletal muscle of critically ill patients: a cross-sectional study.","authors":"Priscila Bellaver, Daisy Crispim, Lílian Rodrigues Henrique, Cristiane Bauermann Leitão, Ariell Freires Schaeffer, Tatiana Helena Rech, Diego Paluszkiewicz Dullius","doi":"10.20945/2359-4292-2024-0417","DOIUrl":"10.20945/2359-4292-2024-0417","url":null,"abstract":"<p><strong>Objective: </strong>To explore the association between diabetes and stress-induced hyperglycemia with skeletal muscle expression of key genes related to glucose transport.</p><p><strong>Methods: </strong>This is a cross-sectional study. Skeletal muscle biopsies were taken from the left vastus muscle of critically ill adult patients within 24 hours of intensive care unit admission, and the expression of the genes of interest, namely insulin receptor substrate 1 (IRS1), insulin receptor substrate 2 (IRS2), solute carrier family 2 member 1 (SLC2A1), and solute carrier family 2 member 4 (SLC2A4), was analyzed using quantitative polymerase chain reaction. The primary analysis was planned to compare the gene expression pattern between patients with and without diabetes mellitus. The secondary analyses compared the gene expression in subgroups of patients with different levels of glycemia, glycemic variability, and glycemic gap.</p><p><strong>Results: </strong>A total of 50 consecutive patients (15 with diabetes mellitus and 35 without diabetes mellitus) were included from April 2018 to September 2018. No differences in gene expression were found between patients with or without diabetes mellitus. Individuals with hyperglycemia > 200 mg/dL at intensive care unit admission exhibited a downregulation of IRS1 compared to those without (0.4 [0.1-0.8] versus 1.1 [0.3-2.2], p = 0.04). Similarly, patients with a glycemic gap ≥ 80 mg/dL exhibited a downregulation of IRS1 compared to those with a glycemic gap < 80 mg/dL (0.3 [0.1-0.7] versus 1 [0.4-2] p=0.04). There was no difference in gene expression between patients with glycemic variability higher or lower than 40 mg/dL.</p><p><strong>Conclusion: </strong>No significant changes were found in skeletal muscle expression of IRS1, IRS2, SLC2A1, and SLC2A4 in critically ill patients with or without diabetes mellitus. However, IRS1 was downregulated in patients with stress-induced hyperglycemia.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 2","pages":"e240417"},"PeriodicalIF":1.6,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11968078/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781975","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-24DOI: 10.20945/2359-4292-2024-0144
Beáta Vida, Gábor Méhes, Olga Török, Mónika Orosz, Zoárd Tibor Krasznai, Attila Jakab, Zsuzsanna Buczkó, Tamás Deli, Péter Juhász
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.
{"title":"Placental insufficiency irrespective of offspring karyotype in maternal Turner syndrome: a case series and literature review.","authors":"Beáta Vida, Gábor Méhes, Olga Török, Mónika Orosz, Zoárd Tibor Krasznai, Attila Jakab, Zsuzsanna Buczkó, Tamás Deli, Péter Juhász","doi":"10.20945/2359-4292-2024-0144","DOIUrl":"10.20945/2359-4292-2024-0144","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 1","pages":"e240144"},"PeriodicalIF":1.6,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11932634/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143702323","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-24DOI: 10.20945/2359-4292-2024-0411
Rafael Lima McGregor von Hellmann, Simone van de Sande-Lee, Maria Edna Melo, Ana Carolina Nader Vasconcelos Messias, Ian Ward Abdalla Maia, Maria Camila Lunardi, Lucas Oliveira Junqueira E Silva, Bruno Halpern
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.
{"title":"Care of patients with obesity in the Emergency Department: 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).","authors":"Rafael Lima McGregor von Hellmann, Simone van de Sande-Lee, Maria Edna Melo, Ana Carolina Nader Vasconcelos Messias, Ian Ward Abdalla Maia, Maria Camila Lunardi, Lucas Oliveira Junqueira E Silva, Bruno Halpern","doi":"10.20945/2359-4292-2024-0411","DOIUrl":"10.20945/2359-4292-2024-0411","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 1","pages":"e240411"},"PeriodicalIF":1.6,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11932637/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143702310","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-24DOI: 10.20945/2359-4292-2024-0293
Enid Perez-Dionisio, Silvia Hinojosa-Alvarez, Rocio Alejandra Chavez-Santoscoy, Regina de Miguel-Ibañez, Manuel Garcia-Saenz, Daniel Marrero-Rodriguez, Keiko Taniguchi-Ponciano, Jesus Henandez-Perez, Moises Mercado, Claudia Ramirez-Renteria, Ernesto Sosa-Eroza, Etual Espinosa-Cardenas
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.
{"title":"A case of familial partial lipodystrophy type 2 masquerading as Cushing syndrome: Explaining an atypical phenotype by whole-exome sequencing.","authors":"Enid Perez-Dionisio, Silvia Hinojosa-Alvarez, Rocio Alejandra Chavez-Santoscoy, Regina de Miguel-Ibañez, Manuel Garcia-Saenz, Daniel Marrero-Rodriguez, Keiko Taniguchi-Ponciano, Jesus Henandez-Perez, Moises Mercado, Claudia Ramirez-Renteria, Ernesto Sosa-Eroza, Etual Espinosa-Cardenas","doi":"10.20945/2359-4292-2024-0293","DOIUrl":"10.20945/2359-4292-2024-0293","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 1","pages":"e240293"},"PeriodicalIF":1.6,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11932635/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143702303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-24DOI: 10.20945/2359-4292-2024-0373
Aline Marcadenti, Josefina Bressan, Annie Seixas Bello Moreira, Rachel Helena V Machado, Renato Hideo N Santos, Cristiane Kovacs Amaral, Marcelo Macedo Rogero, Vinícius Cooper Capetini, Angela C Bersch-Ferreira
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.
{"title":"Effects of a cardioprotective nutritional program on apolipoproteins and lipids in secondary cardiovascular disease prevention.","authors":"Aline Marcadenti, Josefina Bressan, Annie Seixas Bello Moreira, Rachel Helena V Machado, Renato Hideo N Santos, Cristiane Kovacs Amaral, Marcelo Macedo Rogero, Vinícius Cooper Capetini, Angela C Bersch-Ferreira","doi":"10.20945/2359-4292-2024-0373","DOIUrl":"10.20945/2359-4292-2024-0373","url":null,"abstract":"<p><strong>Objective: </strong>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.</p><p><strong>Subjects and methods: </strong>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.</p><p><strong>Results: </strong>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).</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 1","pages":"e240373"},"PeriodicalIF":1.6,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11932636/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143702311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}