Endocrinologia Diabetes Y Nutricion最新文献

{"title":"Executive summary: Quality standards of care units for people with sexual and gender diversity","authors":"Emilia Gómez Hoyos ,&nbsp;Patricia Cabrera García ,&nbsp;Marcelino Gómez Balaguer ,&nbsp;on behalf of the Gonad, Identity and Sexual Differentiation working group of the Spanish Society of Endocrinology and Nutrition (GT-GIDSEEN)","doi":"10.1016/j.endien.2024.01.006","DOIUrl":"10.1016/j.endien.2024.01.006","url":null,"abstract":"<div><p>Comprehensive biopsychosocial care for people with gender incongruence (ICD 11) who are transgender (trans) or gender diverse is a complex process in which the quality of the medical transition can only be guaranteed after a multidisciplinary approach, through teams that integrate professionals with training and experience not only in medicine but also in diversity and gender identity. Based on this, the Gonad, Identity and Sexual Differentiation working group of the Spanish Society of Endocrinology and Nutrition (GT-GIDSEEN) has established minimum care requirements that aim to guarantee adequate health care for these people by professionals. A position paper has been produced and is available at <span>https://www.seen.es/portal/documentos/estandares-calidad-gidseen-2024</span><svg><path></path></svg>.</p></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 4","pages":"Pages 181-186"},"PeriodicalIF":1.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140877688","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}

{"title":"Hemoglobin J-Chicago: about a discordant glycosylated hemoglobin","authors":"Antonio Moreno Tirado ,&nbsp;Pilar Rodríguez Ortega ,&nbsp;José María Calle Isorna","doi":"10.1016/j.endien.2024.04.001","DOIUrl":"10.1016/j.endien.2024.04.001","url":null,"abstract":"","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 4","pages":"Pages 189-190"},"PeriodicalIF":1.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140877689","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}

{"title":"Herlyn–Werner–Wunderlinch: An unusual presentation in a patient with Prader–Willi syndrome","authors":"Laura Costa ,&nbsp;Emma Garcia-Grau ,&nbsp;Laura Toledo ,&nbsp;Nuria Burgaya ,&nbsp;Ramon Cos ,&nbsp;Mireia Rojas ,&nbsp;Olga Giménez-Palop ,&nbsp;Assumpta Caixas","doi":"10.1016/j.endien.2024.01.010","DOIUrl":"https://doi.org/10.1016/j.endien.2024.01.010","url":null,"abstract":"<div><p>Herlyn–Werner–Wunderlich syndrome is an uncommon urogenital anomaly defined by uterus didelphys, obstructed hemi-vagina and unilateral renal anomalies. The most common clinical presentation is dysmenorrhoea following menarche, but it can also present as pain and an abdominal mass.</p><p>Prader–Willi syndrome is a rare neuroendocrine genetic syndrome. Hypothalamic dysfunction is common and pituitary hormone deficiencies including hypogonadism are prevalent.</p><p>We report the case of a 33-year-old female with Prader–Willi syndrome who was referred to the Gynaecology clinic due to vaginal bleeding and abdominal pain. Abdominal ultrasound revealed a haematometra and haematocolpos and computed tomography showed a uterus malformation and a right uterine cavity occupation (hematometra) as well as right kidney agenesis.</p><p>Vaginoscopy and hysteroscopy were performed under general anaesthesia, finding a right bulging vaginal septum and a normal left cervix and hemiuterus. Septotomy was performed with complete haematometrocolpos drainage. The association of the two syndromes remains unclear.</p></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 4","pages":"Pages 171-176"},"PeriodicalIF":1.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140901936","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}

{"title":"Evolution of interconsultal activity to endocrinology and nutrition in hospitalization floor in a third level hospital","authors":"Andrés Ruiz de Assín Valverde,&nbsp;José Joaquín Alfaro Martínez,&nbsp;María Carmen López García,&nbsp;Marina Jara Vidal,&nbsp;Marta Gallach Martínez,&nbsp;Noel Roig-Marin,&nbsp;Rosa Pilar Quílez Toboso,&nbsp;César Gonzalvo Díaz,&nbsp;Lourdes García Blasco,&nbsp;Pedro José Pinés Corrales,&nbsp;Cristina Lamas Oliveira,&nbsp;Silvia Aznar Rodríguez,&nbsp;Elena Parreño Caparrós,&nbsp;Luz María López Jiménez","doi":"10.1016/j.endien.2024.04.002","DOIUrl":"10.1016/j.endien.2024.04.002","url":null,"abstract":"<div><h3>Introduction</h3><p>Endocrinology and Nutrition (EyN) is an outpatient and hospital medical specialty. This study aims to understand the evolution of the activity of interdepartmental consultation (IC) carried out by EyN in hospitalization floor of a third level hospital, comparing its evolution with other medical specialties, and comparing endocrine IC with nutritional IC.</p></div><div><h3>Material and methods</h3><p>Longitudinal and retrospective study which analyzes IC notes of EyN and other medical specialties between 01-01-2013 and 31-12-2022.</p></div><div><h3>Results</h3><p>A total of 76093 IC notes (12623 patients) were performed by the EyN service (average age 65.4 years; 59% male) with an average of 4.8 notes per patient. Average annual growth was 7% in notes and 4% in patients (versus 6% and 3% of all other medical services, differences statistically significant). Of all patients hospitalized for 4 or more days, EyN went from attending 7.9% (2013) to 12.3% (2022). 66% of the IC performed by EyN was for nutritional cause and 34% for other pathologies.</p></div><div><h3>Conclusions</h3><p>The EyN service is the one that most patients attend in hospital IC activity, with growth over the last few years greater than other medical specialties. Nutritional pathology is the main reason for IC</p></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 4","pages":"Pages 163-170"},"PeriodicalIF":1.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140877687","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}

{"title":"Fighting thyrotoxicosis with therapeutic plasma exchange: A case report","authors":"Álvaro Valverde Márquez,&nbsp;María Teresa Mories Álvarez,&nbsp;Heather Stacey Villanueva Alvarado,&nbsp;Ximena Carolina Vivas Vaca,&nbsp;Manuel Delgado Gómez","doi":"10.1016/j.endien.2024.01.009","DOIUrl":"https://doi.org/10.1016/j.endien.2024.01.009","url":null,"abstract":"<div><p>Thyrotoxicosis is the clinical condition resulting from an excess of thyroid hormones for any reason. The main causes are Graves–Basedow disease, toxic multinodular goitre and toxic adenoma. The medical treatment to control thyroid function includes antithyroid drugs, beta blockers, iodine solutions, corticosteroids and cholestyramine. Although therapeutic plasma exchange is not generally part of the therapy, it is an alternative as a preliminary stage before the definitive treatment.</p><p>This procedure makes it possible to eliminate T4, T3, TSI, cytokines and amiodarone. In most cases, more than one cycle is necessary, either daily or every three days, until clinical improvement is observed. The effect on thyrotoxicosis is temporary, with an approximate duration of 24–48<!--> <!-->h.</p><p>This approach has been proposed as a safe and effective alternative when the medical treatment is contraindicated or not effective, and when there is multiple organ failure or emergency surgery is required.</p></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 4","pages":"Pages 177-180"},"PeriodicalIF":1.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140901937","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}

{"title":"Addison's disease in metastatic neuroendocrine prostate cancer","authors":"Francisca de Brito Marques ,&nbsp;Ana Paula Marques ,&nbsp;Francisco Simões de Carvalho ,&nbsp;Helena Magalhães","doi":"10.1016/j.endien.2024.01.011","DOIUrl":"https://doi.org/10.1016/j.endien.2024.01.011","url":null,"abstract":"","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 4","pages":"Pages 187-188"},"PeriodicalIF":1.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140901938","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}

{"title":"Gestational diabetes mellitus early prediction by maternal body fat index: A cohort study","authors":"Alexandre da Silva Rocha ,&nbsp;Juliana Rombaldi Bernardi ,&nbsp;Renata de Oliveira Neves ,&nbsp;Salete de Matos ,&nbsp;Daniela Cortés Kretzer ,&nbsp;Alice Carvalhal Schöffel ,&nbsp;Marcelo Zubaran Goldani ,&nbsp;José Antônio de Azevedo Magalhães","doi":"10.1016/j.endien.2024.03.015","DOIUrl":"https://doi.org/10.1016/j.endien.2024.03.015","url":null,"abstract":"<div><h3>Objectives</h3><p>To compare the performance of maternal body fat index (BFI) assessed during the first 20<!--> <!-->+<!--> <!-->6 weeks among 138 pregnant women in an ultrasound outpatient clinic as a predictor of gestational diabetes mellitus (GDM) later in pregnancy.</p></div><div><h3>Method</h3><p>Maternal visceral and subcutaneous fat was measured with a convex ultrasound probe placed in two locations on the maternal abdominal surface: the first in the mid-sagittal epigastric region, visualising epigastric fat, and the second 2<!--> <!-->cm above the maternal umbilical scar, visualising periumbilical fat. Ultrasound callipers measured the distance from dermal edge to the <em>linea alba</em> and after from the <em>linea alba</em> to the anterior hepatic surface (epigastric fat). Periumbilical fat was measured from the dermal edge to the <em>linea alba</em> and after from the <em>linea alba</em> to the anterior aortic surface. The BFI formula was [visceral adipose tissue (mm)<!--> <!-->×<!--> <!-->subcutaneous adipose tissue (mm)]/maternal height (cm).</p></div><div><h3>Results</h3><p>The best thresholds for predicting GDM outcome for epigastric and periumbilical BFI were 1.2 and 4.8, respectively. Odds ratio, sensitivity and specificity were 5.88 (95% CI 1.86–18.6), 80.9%, 58.0% for the epigastric site and 6.31 (95% CI 1.73–22.94), 84.2%, 54.2% for the periumbilical site. Pre-pregnancy body mass index compatible with adult obesity shows inadequate predictive performance for GDM outcome. Only epigastric BFI above 1.2 maintained statistical significance for GDM in the logistic regression analysis, when compared to periumbilical BFI above 4.8.</p></div><div><h3>Conclusion</h3><p>Epigastric BFI above 1.2 during the first half of pregnancy may help identify women at risk of developing GDM later in pregnancy.</p></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 3","pages":"Pages 110-118"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140308579","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}

{"title":"Familial bilateral macronodular adrenal hyperplasia due to a novel ARMC 5 germline mutation: Clinical status and possible association with other neoplasms","authors":"Ana Piñar-Gutiérrez ,&nbsp;Miguel Ángel Mangas-Cruz ,&nbsp;Irene de Lara-Rodríguez ,&nbsp;Pablo Remón-Ruiz ,&nbsp;Diego del Can-Sánchez ,&nbsp;María Tous Castillo ,&nbsp;Alfonso Pumar-López","doi":"10.1016/j.endien.2024.03.016","DOIUrl":"https://doi.org/10.1016/j.endien.2024.03.016","url":null,"abstract":"<div><h3>Introduction/Objectives</h3><p>Mutations in the <em>ARMC5</em> (armadillo repeat containing 5, OMIM <span>615549</span><svg><path></path></svg>) gene, a putative tumor suppressor gene, have recently been identified as a common cause of sporadic and familial bilateral macronodular adrenal hyperplasia (BMAH). Familial BMAH is thought to be caused by two mutations, one germline and the other somatic, as suggested by the 2-hit theory. The objective is to describe a new mutation and develop its clinical characteristics and implications.</p></div><div><h3>Methods, Results and Conclusions</h3><p>We present an affected family with 11 members carrying a novel mutation of the <em>ARMC5</em> gene (NM_001288767.1): c.2162T&gt;C p. (Leu721Pro). Two of the carriers developed clinical Cushing's syndrome (CS), two mild autonomous cortisol secretion (MACS) and one presented with autonomous cortisol secretion (ACS). Four patients developed other tumors, three of whom died from this cause. It is not known whether these tumors could be related to the described mutation.</p></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 3","pages":"Pages 119-123"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140308606","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}

{"title":"Dysphagia as a primary manifestation of basilar impression: A case report","authors":"Andrea Ruiz Hernández ,&nbsp;Elena González Arnáiz","doi":"10.1016/j.endien.2024.03.013","DOIUrl":"https://doi.org/10.1016/j.endien.2024.03.013","url":null,"abstract":"<div><p>Secondary basilar invagination or basilar impression is an anomaly at the craniovertebral junction where the odontoid process prolapses into the foramen magnum with the risk of compressing adjacent structures and obstructing the proper flow of cerebrospinal fluid (CSF). The incidence is less than 1% in the general population and occurs mainly in the first three decades of life when it is associated with malformations of the neuroaxis. In older age, the main aetiologies are diseases that alter bone mineral density. The clinical course is usually progressive and the most common symptoms are asthenia, cervical pain and restricted movement, but also dysphonia, dyspnoea and dysphagia. It is a progressive disease which, if left untreated, can cause severe neurological damage and death. We report the case of a 79-year-old woman with osteoporosis and progressive dysphagia leading to severe malnutrition, which conditioned the decision not to intervene due to the high perioperative risk.</p></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 3","pages":"Pages 133-137"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140308608","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}

{"title":"Clinical report of Bosma arhinia microphthalmia syndrome with a new variant on SMCHD1 gene. A case report","authors":"José Atencia Goñi ,&nbsp;María Orera Clemente ,&nbsp;Mariano José Del Valle Diéguez ,&nbsp;Laura González Fernández ,&nbsp;Olga González Albarrán","doi":"10.1016/j.endien.2024.03.011","DOIUrl":"https://doi.org/10.1016/j.endien.2024.03.011","url":null,"abstract":"<div><p>The Bosma syndrome (BAMS: Bosma arhinia microphthalmia syndrome) is a condition first described in 1972. Since then, several reviews have published the cases looking for diagnostic criteria and associated genetic alterations. The mutation in the SMCHD1 gene (Structural Maintenance of Chromosomes flexible Hinge Domain containing protein 1) seems to explain a part of the development of the phenotype. Not all cases show the same alterations or meet the classic diagnostic criteria, and few have undergone genetic analysis. We present a case with a new variant in this gene and an update of the literature on this syndrome with the aim of improving the diagnosis and follow-up of these patients.</p></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 3","pages":"Pages 138-143"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140308609","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}