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New onset diabetes manifesting as diabetic ketoacidosis in a patient with chronic myelogenous leukemia treated with imatinib.
IF 1.6 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-04-08 DOI: 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.

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引用次数: 0
Age-related characteristics in differentiated thyroid cancer: a 20-year single-center retrospective analysis in pediatric and adolescent patients.
IF 1.6 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-04-08 DOI: 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}
引用次数: 0
Double pituitary adenoma associated with acromegaly and hyperprolactinemia: a case report.
IF 1.6 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-04-08 DOI: 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}
引用次数: 0
Risk factors associated with gestational transient thyrotoxicosis and their effects on the pregnancy course.
IF 1.6 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-04-08 DOI: 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}
引用次数: 0
Use of technologies in thyroid surgery: Latin American Thyroid Society Surgical Affairs Committee Expert Opinion. Part 1.
IF 1.6 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-04-03 DOI: 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.

甲状腺切除术是治疗甲状腺肿、甲状腺癌和巴塞杜氏病等疾病最常用的内分泌外科疗法。甲状腺肿大的全球发病率在5%-20%之间,在不太富裕的国家发病率尤其高,而甲状腺癌的发病率则由于影像诊断技术的广泛应用而呈上升趋势。尽管可以选择药物治疗,但手术仍然必不可少。血管封闭技术、术中喉神经监测技术(IONM)、远程手术和甲状旁腺荧光技术等手术技术的进步改变了甲状腺手术。血管封闭技术缩短了手术时间并减少了失血量,而术中喉部神经监测技术则保留了喉部神经。远程手术包括多种技术,其效果与开放式甲状腺切除术相似,但手术时间更长。荧光技术可提高甲状旁腺检测能力,降低暂时性甲状旁腺功能减退的风险。经济学研究显示了成本差异,在依赖手术时间的医疗系统中优势尤为明显。虽然这些先进技术有望为患者带来更好的治疗效果,但其可及性和成本效益仍然是个问题,尤其是在拉丁美洲。考虑到这些问题,拉丁美洲甲状腺学会外科事务委员会对新兴的甲状腺外科技术进行了广泛的审查,以确保这些技术在该地区的合理应用。
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引用次数: 0
Stress-induced hyperglycemia and expression of glucose cell transport genes in skeletal muscle of critically ill patients: a cross-sectional study.
IF 1.6 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-04-03 DOI: 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.

目的:探讨糖尿病和压力诱导的高血糖与骨骼肌中葡萄糖转运相关关键基因表达的关系:探讨糖尿病和压力诱导的高血糖与骨骼肌中葡萄糖转运相关关键基因表达的关系:这是一项横断面研究。采用定量聚合酶链反应分析了相关基因(即胰岛素受体底物 1(IRS1)、胰岛素受体底物 2(IRS2)、溶质运载家族 2 成员 1(SLC2A1)和溶质运载家族 2 成员 4(SLC2A4))的表达。主要分析旨在比较糖尿病患者和非糖尿病患者的基因表达模式。辅助分析比较了不同血糖水平、血糖变异性和血糖差距的亚组患者的基因表达情况:共纳入2018年4月至2018年9月的50名连续患者(15名糖尿病患者和35名非糖尿病患者)。未发现糖尿病患者与非糖尿病患者的基因表达存在差异。与未患糖尿病的患者相比,入重症监护室时高血糖> 200 mg/dL 的患者表现出 IRS1 的下调(0.4 [0.1-0.8] 对 1.1 [0.3-2.2],p = 0.04)。同样,与血糖差距小于 80 mg/dL 的患者相比,血糖差距≥ 80 mg/dL 的患者的 IRS1 基因表达下调(0.3 [0.1-0.7] 对 1 [0.4-2] ,p=0.04)。血糖差异高于或低于 40 mg/dL 的患者的基因表达没有差异:结论:无论是否患有糖尿病,重症患者骨骼肌中 IRS1、IRS2、SLC2A1 和 SLC2A4 的表达均无明显变化。然而,在应激诱导的高血糖患者中,IRS1的表达下调。
{"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}
引用次数: 0
Placental insufficiency irrespective of offspring karyotype in maternal Turner syndrome: a case series and literature review.
IF 1.6 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-03-24 DOI: 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}
引用次数: 0
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).
IF 1.6 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-03-24 DOI: 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}
引用次数: 0
A case of familial partial lipodystrophy type 2 masquerading as Cushing syndrome: Explaining an atypical phenotype by whole-exome sequencing.
IF 1.6 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-03-24 DOI: 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}
引用次数: 0
Effects of a cardioprotective nutritional program on apolipoproteins and lipids in secondary cardiovascular disease prevention.
IF 1.6 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-03-24 DOI: 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.

研究目的本研究旨在评估巴西心血管保护营养计划(BALANCE 计划)在三年随访期内对接受心血管二级预防的患者血浆中各种脂蛋白(A-I、A-II、B、C-II、C-III 和 E)和血脂生物标志物水平的影响:这项探索性分析包括 276 名年龄在 45 岁或以上、在过去十年中曾患心血管疾病的患者。参与者被随机分配到两组中的一组,并接受为期三年的监测:"平衡计划 "组(干预组;人数=123)和对照组(常规营养建议;人数=153)。在基线和三年随访期间,对临床和生活方式数据、人体测量、食物摄入量、血浆脂蛋白和血脂概况进行了评估。干预措施的坚持情况通过 "BALANCE膳食指数 "进行测量:结果:在随访期结束时,干预组的依从性明显提高(BALANCE-对照组的平均差异[95% CI]:2.09分 [-0.19; 4.37]),这主要是由于水果、蔬菜、豆类和低脂乳制品的摄入量增加。在整个研究过程中,各组之间的血浆载脂蛋白水平没有明显差异。不过,与对照组相比,"平衡 "组的总胆固醇和非高密度脂蛋白胆固醇水平明显下降(干预组与对照组的平均差异[95% CI]:分别为-9.95 mg/dL [-18.5; -1.39] 和-8.86 mg/dL [-17.53; -0.2]):经过三年的干预,尽管更多的人加入了 "平衡计划",但血浆载脂蛋白浓度或总体血脂生物标志物没有发生显著变化。
{"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}
引用次数: 0
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Archives of Endocrinology Metabolism
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