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[Knowing better, knowing the why, and knowing how to do: assumptions of depression in psychiatry]. [知道得更好,知道原因,知道怎么做:精神病学对抑郁症的假设]。
IF 0.6 4区 医学 Q3 Medicine Pub Date : 2022-11-01 DOI: 10.4067/S0034-98872022001101520
Gustavo Figueroa

1) Empirical psychiatric research has failed to validate or verify the causes of depressive disorder. 2) Historically, psychiatry has been looking for many causes and is currently favoring a model of multi-causality, acting at various levels of interaction with diffuse limits. 3) Purely scientific psychiatry is based on the concept that a person is an "entity in itself" that presently suffers from a disorder caused by modifications in the impulses of the neurons in its brain. 4) The question that remains is whether depression is a real entity independent of human activities, a pragmatic entity employed for reasons of utility, or an entity constructed by the prevailing social forces in Western civilization. 5) The rationale for depression can be answered if we understand a human being as a being-in-the-world that a] is projected into the future to enact its existence, b] is placed in a condition that determines him and hinders his self-determination and c] lives among others that impel him to submit to the rules valid for "common people.

1)经验精神病学研究未能证实或证实抑郁症的原因。从历史上看,精神病学一直在寻找许多原因,目前倾向于一种多因果关系模型,在不同层次的相互作用中发挥作用。纯粹科学的精神病学是建立在这样一个概念之上的:一个人是一个“自我存在的实体”,目前患有一种由大脑中神经元冲动的改变引起的紊乱。仍然存在的问题是,抑郁症是一个独立于人类活动之外的真实实体,还是一个出于效用原因而使用的实用主义实体,还是一个由西方文明中盛行的社会力量所构建的实体。5)如果我们把一个人理解为一个存在于这个世界上的人,那么抑郁的基本原理就可以得到回答:a]被投射到未来以实现其存在,b]被置于一个决定他并阻碍他自我决定的环境中,c]生活在迫使他服从对“普通人”有效的规则的环境中。
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引用次数: 0
[Cholangiocarcinoma and combined hepatocellular-cholangiocarcinoma in cirrhotic patients]. [肝硬化患者胆管癌及肝细胞-胆管合并癌]。
IF 0.6 4区 医学 Q3 Medicine Pub Date : 2022-11-01 DOI: 10.4067/S0034-98872022001101431
Marcelo Salinas, Daniela Simian, Laura Carreño, Máximo Cattaneo, Álvaro Urzúa, Alex Sauré, Hanns Lembach, Jaime Castillo, Juan C Díaz, Jaime Poniachik

Background: Cholangiocarcinoma (CCA) is a primary hepatic tumor, frequently found in patients with liver cirrhosis and biliary tract diseases. Its varieties include isolated CCA or "combined hepatocellular-cholangiocarcinoma" (cHCC-CCA). The latter is uncommon, with poorly defined diagnostic criteria and natural history.

Aim: To characterize patients with cirrhosis with a pathological diagnosis of CCA and cHCC-CCA.

Material and methods: Forty-nine liver biopsies with a pathological diagnosis of CCA were reviewed. The clinical records of patients were reviewed to fetch demographic variables, etiology of cirrhosis and clinical presentation.

Results: Eight of the 49 patients had cirrhosis (16% of CCA biopsies reviewed). Their median age was 64 (27-71) years and five were females. Four patients had CCA, three patients cHCC-CCA and one had a bifocal tumor. Patients in the CCA group were more commonly symptomatic. Alpha-fetoprotein and CA 19-9 levels were elevated in one of eight and four of six patients, respectively. Within 12 months from diagnosis, five of eight patients died.

Conclusions: In most of these cases, the diagnosis of cHCC-CCA and CCA was made in the liver explant study without previous imaging diagnosis. This reinforces the usefulness of the histological study, in specific cases, prior to liver transplantation and emphasizes the importance of systematic explant exploration in these cases.

背景:胆管癌(CCA)是一种原发性肝脏肿瘤,常见于肝硬化和胆道疾病患者。其种类包括分离性CCA或“肝细胞-胆管合并癌”(cHCC-CCA)。后者不常见,诊断标准和自然病史定义不清。目的:探讨肝硬化合并CCA和cHCC-CCA的病理诊断特点。材料与方法:回顾性分析49例肝活检病理诊断为CCA的病例。回顾了患者的临床记录,以获取人口学变量,肝硬化病因和临床表现。结果:49例患者中有8例肝硬化(复查CCA活检的16%)。患者年龄中位数为64岁(27-71岁),其中5例为女性。4例为CCA, 3例为cHCC-CCA, 1例为双焦点肿瘤。CCA组患者的症状更为常见。甲胎蛋白和CA 19-9水平分别在8名患者中的1名和6名患者中的4名中升高。在确诊后的12个月内,8名患者中有5人死亡。结论:在大多数病例中,cHCC-CCA和CCA的诊断都是在没有影像学诊断的情况下在肝移植研究中做出的。这加强了在肝移植前的特定病例中组织学研究的有用性,并强调了在这些病例中系统的外植体探索的重要性。
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引用次数: 0
[Academic residents fellowship program at the University of Chile Clinical Hospital]. [智利大学临床医院学术住院医师奖学金项目]。
IF 0.6 4区 医学 Q3 Medicine Pub Date : 2022-11-01 DOI: 10.4067/S0034-98872022001101477
Cristián Miranda V, María Graciela Rojas C

The mission of the University of Chile Clinical Hospital is to be the main University Hospital in the country. Along with training of health professionals in clinical practice and research, the Hospital provides comprehensive health solutions to the community. Since its foundation, it played an important role in the training of health professionals and specialists. To fulfill this mission, it is important to have outstanding academics and a system that allows their renewal and replacement. From January 25, 2001, the University of Chile approved the regulations that rule the Residents Program Fellowship, aimed to train the new generations of clinical academics. These regulations allow the financing of training programs in basic or primary specialties (such as internal medicine, surgery, obstetrics and gynecology, among others) or in specialties derived from them (such as cardiology, gastroenterology and reproductive medicine, among others.) The different clinical departments and the Hospital Direction define each year how many places will be offered and in which specialties. The Faculty of Medicine Graduate School carries out the formal selection of the applicants. This article reviews the results of this program between 2013 and 2021, analyzing in detail the traceability of each graduate over the years.

智利大学临床医院的使命是成为智利主要的大学医院。除了在临床实践和研究方面培训卫生专业人员外,医院还为社区提供全面的卫生解决方案。自成立以来,它在培训保健专业人员和专家方面发挥了重要作用。为了完成这一使命,重要的是要有优秀的学者和一个允许他们更新和替换的系统。从2001年1月25日起,智利大学批准了居民项目奖学金的规定,旨在培养新一代的临床学者。这些条例允许为基础或初级专业(如内科、外科、妇产科等)或从这些专业衍生的专业(如心脏病学、胃肠病学和生殖医学等)的培训项目提供资金。不同的临床科室和医院指导每年确定将提供多少个名额和哪些专业。医学院研究生院对申请人进行正式选拔。本文回顾了该项目2013年至2021年的成果,详细分析了每位毕业生的可追溯性。
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引用次数: 0
[Efficiency of the Chilean health system: comparative analysis between health services]. [智利卫生系统的效率:卫生服务的比较分析]。
IF 0.6 4区 医学 Q3 Medicine Pub Date : 2022-11-01 DOI: 10.4067/S0034-98872022001101501
Sebastián Mayanz

Background: The assessment of health systems efficiency determines how they use their supplies to produce results of health value.

Aim: To determine the efficiency of the health services in Chile, managing their budget to improve the health of the population in 2016.

Material and methods: Data envelopment analysis (DEA) was used. The relationship or efficiency with external factors was determined ussing a multivariate analysis. As an input, the operating expense accrued per member of the public health system (National Health Fund, FONASA) was obtained. The years of life potentially lost were used as output.

Results: The health services of Chile had an efficiency of 68.8% for constant return and 81.3% for variable return. Sixteen percent of their inefficiency was related to the size of the health service. The most efficient health service was the Metropolitano Sur-Oriente and the least efficient was the Araucanía Norte. Urban health services had more uniform and higher efficiency than their rural counterparts. The external factors that were associated with a greater efficiency were having lower proportion of rural population, a lower proportion of beneficiaries of the National Health Fund (FONASA), fewer hospital discharges, fewer hospital beds, less poverty calculated by income, and a higher access to drinking water.

Conclusions: Numerous factors influence the efficiency of the Chilean health system and delving into them would allow a better use of public resources for the benefit of the population.

背景:对卫生系统效率的评估决定了他们如何利用其供应来产生具有卫生价值的结果。目的:确定智利卫生服务的效率,管理其预算,以改善2016年人口的健康。材料与方法:采用数据包络分析(DEA)。使用多变量分析确定与外部因素的关系或效率。作为一项投入,获得了公共卫生系统(国家卫生基金)每个成员应计的业务费用。可能丧失的生命年数被用作产出。结果:智利卫生服务效率恒定回报为68.8%,可变回报为81.3%。16%的低效率与卫生服务的规模有关。效率最高的保健服务是东方大都会,效率最低的是Araucanía北方。城市卫生服务比农村卫生服务更加统一,效率更高。与提高效率有关的外部因素是农村人口比例较低、国家卫生基金受益人比例较低、出院率较低、医院床位较少、按收入计算的贫困程度较低以及获得饮用水的机会较多。结论:影响智利卫生系统效率的因素众多,深入研究这些因素可以更好地利用公共资源,造福于人民。
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引用次数: 0
The future is now: The Fifth Industrial Revolution has reached the biomedical and health sciences. 未来就是现在:第五次工业革命已经触及生物医学和健康科学。
IF 0.6 4区 医学 Q3 Medicine Pub Date : 2022-11-01 DOI: 10.4067/S0034-98872022001101545
Manuel E Cortés, Érika Cortés
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引用次数: 0
[Genetic revolution: New challenges and opportunities]. [基因革命:新的挑战和机遇]。
IF 0.6 4区 医学 Q3 Medicine Pub Date : 2022-11-01 DOI: 10.4067/S0034-98872022001101547
Paula Saffie Awad, Ignacio Mata, Pedro Chana-Cuevas
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引用次数: 0
Long-lasting brain fog is related with severity clusters of symptoms in COVID-19 patients. 持续的脑雾与COVID-19患者的严重症状群有关。
IF 0.6 4区 医学 Q3 Medicine Pub Date : 2022-11-01 DOI: 10.4067/S0034-98872022001101484
José Ramón Lanz-Luces, Héctor Aceituno, Fernando Quiroz-Bravo, Felipe Rodríguez-Flores, Marcela Osores-Espinoza, Dairene Rigaud, Denis Pérez-Cuesta, Abid Khan, Aline Tobar-Bustamente, Andrea Barrancas, Carla Figueroa-Torres, José Gutiérrez de la Cruz, Francisca Burgos-Alarcón, Jenifer Gómez-Donoso

Background: COVID-19 patients may experience Long-lasting symptoms from weeks to even months.

Aim: To evaluate long-term cognitive impairment based on the severity of symptoms of COVID-19 infection in a primary health system setting.

Material and methods: From a database of 363 patients, 83 cases aged 47 ± 15 years, (58% females) were selected from June to August 2020. In patients who survived the virus, 24 infection-related symptoms were collected to create three severity clusters (mild, moderate, and severe). The follow-up time was at least seven months. Comparing the first two clusters with the severe cluster, the existence of brain fog and risk factors (obesity, hypertension, diabetes, chronic lung disease, and hypothyroidism) were analyzed.

Results: Thirty-one patients (37%) had persistent symptoms lasting up to 240 days. Fifty-one patients (61%) experienced brain fog. Concentration was affected by symptom severity (odds ratio [OR] 3.63, 95% confidence interval [CI] 1.26-10.46, p = 0.02). Short- or long-term memory loss was not affected. Moreover, symptom severity was related to brain fog (OR 3.16, 95% CI 1.05-9.51, p = 0.04). Patients with persistent symptoms had a concentration impairment associated with severity patterns (OR 24.3, 95% CI 1.73-340.11, p = 0.03).

Conclusions: Brain fog is associated with symptom severity in COVID-19 survivors and lasts for more than eight months.

背景:COVID-19患者可能会出现持续数周甚至数月的症状。目的:评估初级卫生系统中基于COVID-19感染症状严重程度的长期认知障碍。材料与方法:选取2020年6 - 8月363例患者,年龄47±15岁83例,其中女性58%。在病毒存活的患者中,收集了24种与感染相关的症状,以创建三个严重程度集群(轻度、中度和重度)。随访时间至少7个月。将前两组与重度组进行比较,分析脑雾的存在情况及危险因素(肥胖、高血压、糖尿病、慢性肺病、甲状腺功能减退)。结果:31例(37%)患者持续症状达240天。51例(61%)患者出现脑雾。浓度受症状严重程度的影响(优势比[OR] 3.63, 95%可信区间[CI] 1.26-10.46, p = 0.02)。短期或长期记忆丧失不受影响。此外,症状严重程度与脑雾有关(OR 3.16, 95% CI 1.05-9.51, p = 0.04)。持续症状患者的浓度损害与严重程度相关(OR 24.3, 95% CI 1.73-340.11, p = 0.03)。结论:脑雾与COVID-19幸存者的症状严重程度有关,且持续时间超过8个月。
{"title":"Long-lasting brain fog is related with severity clusters of symptoms in COVID-19 patients.","authors":"José Ramón Lanz-Luces,&nbsp;Héctor Aceituno,&nbsp;Fernando Quiroz-Bravo,&nbsp;Felipe Rodríguez-Flores,&nbsp;Marcela Osores-Espinoza,&nbsp;Dairene Rigaud,&nbsp;Denis Pérez-Cuesta,&nbsp;Abid Khan,&nbsp;Aline Tobar-Bustamente,&nbsp;Andrea Barrancas,&nbsp;Carla Figueroa-Torres,&nbsp;José Gutiérrez de la Cruz,&nbsp;Francisca Burgos-Alarcón,&nbsp;Jenifer Gómez-Donoso","doi":"10.4067/S0034-98872022001101484","DOIUrl":"https://doi.org/10.4067/S0034-98872022001101484","url":null,"abstract":"<p><strong>Background: </strong>COVID-19 patients may experience Long-lasting symptoms from weeks to even months.</p><p><strong>Aim: </strong>To evaluate long-term cognitive impairment based on the severity of symptoms of COVID-19 infection in a primary health system setting.</p><p><strong>Material and methods: </strong>From a database of 363 patients, 83 cases aged 47 ± 15 years, (58% females) were selected from June to August 2020. In patients who survived the virus, 24 infection-related symptoms were collected to create three severity clusters (mild, moderate, and severe). The follow-up time was at least seven months. Comparing the first two clusters with the severe cluster, the existence of brain fog and risk factors (obesity, hypertension, diabetes, chronic lung disease, and hypothyroidism) were analyzed.</p><p><strong>Results: </strong>Thirty-one patients (37%) had persistent symptoms lasting up to 240 days. Fifty-one patients (61%) experienced brain fog. Concentration was affected by symptom severity (odds ratio [OR] 3.63, 95% confidence interval [CI] 1.26-10.46, p = 0.02). Short- or long-term memory loss was not affected. Moreover, symptom severity was related to brain fog (OR 3.16, 95% CI 1.05-9.51, p = 0.04). Patients with persistent symptoms had a concentration impairment associated with severity patterns (OR 24.3, 95% CI 1.73-340.11, p = 0.03).</p><p><strong>Conclusions: </strong>Brain fog is associated with symptom severity in COVID-19 survivors and lasts for more than eight months.</p>","PeriodicalId":21360,"journal":{"name":"Revista medica de Chile","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9742564","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
Chronic angina secondary to Takayasu arteritis. Report of one case. 慢性心绞痛继发于高须动脉炎。报告1例。
IF 0.6 4区 医学 Q3 Medicine Pub Date : 2022-11-01 DOI: 10.4067/S0034-98872022001101534
Bruno Dighero, Fernando J Verdugo, Hugo Fuentes, Matías Herrera, Jorge Sandoval, Cecilia Muñoz, Christian Dauvergne, Yenny Ortega, Claudio Parra, Gonzalo Torres

Chronic coronary syndromes are usually considered uncommon in young women, related to slower progression of atherosclerotic coronary artery disease, have atypical clinical presentations, and experience less diagnostic investigation. Non-atherosclerotic causes of coronary artery disease should be considered in young women experiencing angina. We report a 25-year-old woman who consulted for five months of moderate exertion angina. Physical examination revealed a right carotid bruit and asymmetrical upper extremity peripheral pulses. Initial work-up and imaging allowed to diagnose aortitis with bilateral coronary ostial stenosis secondary to Takayasu's arteritis. The patient experienced an apparent clinical response to initial medical therapy. However, follow-up evaluation revealed persistence of significant ischemia and requirement for myocardial revascularization. A percutaneous coronary intervention was performed.

慢性冠状动脉综合征通常被认为在年轻女性中不常见,与动脉粥样硬化性冠状动脉疾病进展较慢有关,具有不典型的临床表现,并且很少进行诊断调查。发生心绞痛的年轻女性应考虑冠状动脉疾病的非动脉粥样硬化性原因。我们报告一个25岁的妇女谁咨询了五个月的中度用力心绞痛。体格检查显示右颈动脉损伤和上肢外周脉搏不对称。最初的检查和影像学检查可以诊断继发于Takayasu动脉炎的双侧冠状动脉口狭窄的主动脉炎。病人对最初的药物治疗有明显的临床反应。然而,随访评估显示持续明显缺血和需要心肌血运重建。行经皮冠状动脉介入治疗。
{"title":"Chronic angina secondary to Takayasu arteritis. Report of one case.","authors":"Bruno Dighero,&nbsp;Fernando J Verdugo,&nbsp;Hugo Fuentes,&nbsp;Matías Herrera,&nbsp;Jorge Sandoval,&nbsp;Cecilia Muñoz,&nbsp;Christian Dauvergne,&nbsp;Yenny Ortega,&nbsp;Claudio Parra,&nbsp;Gonzalo Torres","doi":"10.4067/S0034-98872022001101534","DOIUrl":"https://doi.org/10.4067/S0034-98872022001101534","url":null,"abstract":"<p><p>Chronic coronary syndromes are usually considered uncommon in young women, related to slower progression of atherosclerotic coronary artery disease, have atypical clinical presentations, and experience less diagnostic investigation. Non-atherosclerotic causes of coronary artery disease should be considered in young women experiencing angina. We report a 25-year-old woman who consulted for five months of moderate exertion angina. Physical examination revealed a right carotid bruit and asymmetrical upper extremity peripheral pulses. Initial work-up and imaging allowed to diagnose aortitis with bilateral coronary ostial stenosis secondary to Takayasu's arteritis. The patient experienced an apparent clinical response to initial medical therapy. However, follow-up evaluation revealed persistence of significant ischemia and requirement for myocardial revascularization. A percutaneous coronary intervention was performed.</p>","PeriodicalId":21360,"journal":{"name":"Revista medica de Chile","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9742119","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
[Proposal of an informed consent form to obtain audiovisual material from patients]. [建议使用知情同意书从患者处获取视听资料]。
IF 0.6 4区 医学 Q3 Medicine Pub Date : 2022-10-01 DOI: 10.4067/S0034-98872022001001291
Rodrigo Tejos, Alfonso Navia, Susana Searle, Gonzalo Yáñez, Gabriel Díaz, Montserrat Fontbona, Stefan Danilla, Claudio Thomas, José Lasen, Diego Marré, José Ramón Rodríguez, Claudio Guerra, Álvaro Cuadra

Background: An informed consent is mandatory to obtain any clinical audiovisual material from patients. Although there are some documents created for this purpose, there are some barriers for their application, such as the context in which they were created, the language and download availability.

Aim: To create a proposal for an informed consent form (ICF) for the capture and different uses for audiovisual material from patients.

Material and methods: A bibliographic search was carried out to obtain different ICFs in Spanish and English, which were subjected to a process of translation, counter-translation and fragmentation. Subsequently, a panel of experts was formed by members of the Chilean Society of Plastic Surgery with extensive experience in social networks. Delphi methodology was applied to reach a consensus about the definitive content of the ICF based on the previously selected fragments.

Results: ICFs available for download were identified. The panel was made up of seven Plastic Surgeons and two Delphi rounds were carried out through electronic surveys. At the end of the process, an ICF proposal was obtained for therapeutic, academic or scientific purposes and another for dissemination or education in the mass media.

Conclusions: The proposed ICFs were liberated for their use among health care professionals in Chile, who could use them, provided that they are approved by the local healthcare ethics committees.

背景:从患者处获取任何临床视听资料必须获得知情同意。尽管为此目的创建了一些文档,但它们的应用程序存在一些障碍,例如创建它们的上下文、语言和下载可用性。目的:为获取和不同用途的患者视听材料创建知情同意书(ICF)的建议。材料和方法:进行了文献检索,以获得西班牙文和英文版本的不同国际文件,这些文件经过了翻译、反翻译和碎片化的过程。随后,智利整形外科协会的成员组成了一个专家小组,他们在社交网络方面有着丰富的经验。采用德尔菲法,根据先前选择的片段对ICF的最终内容达成共识。结果:确定了可供下载的ICFs。该小组由七名整形外科医生组成,通过电子调查进行了两轮德尔菲调查。在这一进程结束时,获得了一份用于治疗、学术或科学目的的ICF提案和另一份用于在大众传播媒介中传播或教育的提案。结论:拟议的ICFs可以在智利的卫生保健专业人员中自由使用,只要得到当地卫生保健伦理委员会的批准,他们就可以使用这些ICFs。
{"title":"[Proposal of an informed consent form to obtain audiovisual material from patients].","authors":"Rodrigo Tejos,&nbsp;Alfonso Navia,&nbsp;Susana Searle,&nbsp;Gonzalo Yáñez,&nbsp;Gabriel Díaz,&nbsp;Montserrat Fontbona,&nbsp;Stefan Danilla,&nbsp;Claudio Thomas,&nbsp;José Lasen,&nbsp;Diego Marré,&nbsp;José Ramón Rodríguez,&nbsp;Claudio Guerra,&nbsp;Álvaro Cuadra","doi":"10.4067/S0034-98872022001001291","DOIUrl":"https://doi.org/10.4067/S0034-98872022001001291","url":null,"abstract":"<p><strong>Background: </strong>An informed consent is mandatory to obtain any clinical audiovisual material from patients. Although there are some documents created for this purpose, there are some barriers for their application, such as the context in which they were created, the language and download availability.</p><p><strong>Aim: </strong>To create a proposal for an informed consent form (ICF) for the capture and different uses for audiovisual material from patients.</p><p><strong>Material and methods: </strong>A bibliographic search was carried out to obtain different ICFs in Spanish and English, which were subjected to a process of translation, counter-translation and fragmentation. Subsequently, a panel of experts was formed by members of the Chilean Society of Plastic Surgery with extensive experience in social networks. Delphi methodology was applied to reach a consensus about the definitive content of the ICF based on the previously selected fragments.</p><p><strong>Results: </strong>ICFs available for download were identified. The panel was made up of seven Plastic Surgeons and two Delphi rounds were carried out through electronic surveys. At the end of the process, an ICF proposal was obtained for therapeutic, academic or scientific purposes and another for dissemination or education in the mass media.</p><p><strong>Conclusions: </strong>The proposed ICFs were liberated for their use among health care professionals in Chile, who could use them, provided that they are approved by the local healthcare ethics committees.</p>","PeriodicalId":21360,"journal":{"name":"Revista medica de Chile","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10044948","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
[Clinical features of Chilean patients with Fibrous Dysplasia/McCune-Albright Syndrome]. [智利纤维发育不良/McCune-Albright综合征患者的临床特征]。
IF 0.6 4区 医学 Q3 Medicine Pub Date : 2022-10-01 DOI: 10.4067/S0034-98872022001001275
Catalina Jiménez, Paulina Schneider, Rene Baudrand, Hernán García, Alejandro Martínez, Carolina Mendoza, Francisca Grob, Cristián Seiltgens, Pablo Florenzano

Background: Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS) is characterized by a spectrum of manifestations that may include fibrous dysplasia of bone and multiple endocrinopathies.

Aim: To describe the clinical spectrum, the study and follow-up of patients with FD/MAS cared at our institution.

Material and methods: Review of medical records of 12 pediatric and adult patients (11 women) who met the clinical and genetic diagnostic criteria for FD/ MAS.

Results: The patients' mean age at diagnosis was 4.9 ± 5.5 years. The most common initial clinical manifestation was peripheral precocious puberty (PPP) in 67% of patients and 75% had café-au-lait spots. Fibrous dysplasia was present in 75% of patients and the mean age at diagnosis was 7.9 ± 4.7 years. Ten patients had a bone scintigraphy, with an age at the first examination that varied between 2 and 38 years of age. The most frequent location of dysplasia was craniofacial and appendicular. No patient had a recorded history of cholestasis, hepatitis, or pancreatitis. In four patients, a genetic study was performed that was positive for the pathogenic variant of guanine nucleotide binding protein, alpha stimulating (GNAS).

Conclusions: These patients demonstrate the variable nature of the clinical presentation and study of FD/MAS. It is essential to increase the index of diagnostic suspicion and adherence to international recommendations.

背景:纤维结构不良/麦库恩-奥尔布赖特综合征(FD/MAS)的特点是一系列的表现,可能包括骨纤维结构不良和多种内分泌病变。目的:描述本院FD/MAS患者的临床特征、研究和随访情况。材料和方法:回顾了符合FD/ MAS临床和遗传诊断标准的12例儿童和成人患者(11例女性)的医疗记录。结果:患者的平均诊断年龄为4.9±5.5岁。67%的患者最常见的初始临床表现为外周性性早熟(PPP), 75%的患者有卡萨默-奥莱斑。75%的患者存在纤维发育不良,诊断时的平均年龄为7.9±4.7岁。10例患者接受骨显像检查,首次检查时年龄在2岁至38岁之间。最常见的发育不良部位是颅面和阑尾。患者无胆汁淤积、肝炎或胰腺炎病史。在四名患者中,进行了一项基因研究,结果显示鸟嘌呤核苷酸结合蛋白α刺激(GNAS)的致病性变异呈阳性。结论:这些患者表现出FD/MAS临床表现和研究的可变性质。必须增加诊断怀疑和遵守国际建议的指数。
{"title":"[Clinical features of Chilean patients with Fibrous Dysplasia/McCune-Albright Syndrome].","authors":"Catalina Jiménez,&nbsp;Paulina Schneider,&nbsp;Rene Baudrand,&nbsp;Hernán García,&nbsp;Alejandro Martínez,&nbsp;Carolina Mendoza,&nbsp;Francisca Grob,&nbsp;Cristián Seiltgens,&nbsp;Pablo Florenzano","doi":"10.4067/S0034-98872022001001275","DOIUrl":"https://doi.org/10.4067/S0034-98872022001001275","url":null,"abstract":"<p><strong>Background: </strong>Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS) is characterized by a spectrum of manifestations that may include fibrous dysplasia of bone and multiple endocrinopathies.</p><p><strong>Aim: </strong>To describe the clinical spectrum, the study and follow-up of patients with FD/MAS cared at our institution.</p><p><strong>Material and methods: </strong>Review of medical records of 12 pediatric and adult patients (11 women) who met the clinical and genetic diagnostic criteria for FD/ MAS.</p><p><strong>Results: </strong>The patients' mean age at diagnosis was 4.9 ± 5.5 years. The most common initial clinical manifestation was peripheral precocious puberty (PPP) in 67% of patients and 75% had café-au-lait spots. Fibrous dysplasia was present in 75% of patients and the mean age at diagnosis was 7.9 ± 4.7 years. Ten patients had a bone scintigraphy, with an age at the first examination that varied between 2 and 38 years of age. The most frequent location of dysplasia was craniofacial and appendicular. No patient had a recorded history of cholestasis, hepatitis, or pancreatitis. In four patients, a genetic study was performed that was positive for the pathogenic variant of guanine nucleotide binding protein, alpha stimulating (GNAS).</p><p><strong>Conclusions: </strong>These patients demonstrate the variable nature of the clinical presentation and study of FD/MAS. It is essential to increase the index of diagnostic suspicion and adherence to international recommendations.</p>","PeriodicalId":21360,"journal":{"name":"Revista medica de Chile","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10044950","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
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Revista medica de Chile
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