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Refeeding syndrome in patients with anorexia nervosa - case reports 神经性厌食症患者再进食综合征1例报告
Pub Date : 2021-12-01 DOI: 10.2478/cpp-2021-0017
Paweł Stanicki, Klaudia Szukała, Małgorzata Szypłowska, Michał Dzikowski
Abstract Introduction: Refeeding syndrome RS is a life-threatening acute hormonal and metabolic disorder that occurs in patients with moderate or severe malnutrition as a result of improperly administered nutritional therapy. Material and method: The aim of this study is to describe the cases of two female patients suffering from anorexia nervosa, who developed a refeeding syndrome after starting nutritional therapy. Additionally, the available literature was reviewed in order to characterize the issue, including negative consequences and prevention of the refeeding syndrome. Results: In both cases, the development of the refeeding syndrome was found in the patients, resulting from the excessive supply of energy and nutritional substrates in a short time, preceded by a previous, months long period of starvation and exhaustion of the organism (both patients had a decrease in the body mass index - BMI - to the value of about 14 kg / m2). In patient 1, the symptoms concerned mainly the cardiovascular system: a significant increase in the concentration of N-terminal B-type natriuretic propeptide (NT-proBNP) and tachycardia, as well as a decrease in the concentration of inorganic phosphates and hypokalemia. On the other hand, in the case of patient 2, symptoms such as confusion or deep disturbances of consciousness, which led to hospitalization in the intensive care unit, dominated the clinical picture. Conclusions: Refeeding syndrome may develop during nutritional rehabilitation, especially in the case of a sudden, inadequately planned supply of nutrients. Particular care should be taken in patients with extremely low BMI when reintroducing nutrition. The presented case reports draw attention to the possibility of cardiological complications and mental disorders of the realimentation syndrome, and indicate the behavior of patients (eating excessive food) that may lead to the development of the refeeding syndrome.
摘要简介:再喂养综合征(RS)是一种危及生命的急性激素和代谢紊乱,发生在中度或重度营养不良患者中,由于给予不当的营养治疗。材料与方法:本研究的目的是描述两名女性神经性厌食症患者在开始营养治疗后出现再进食综合征的病例。此外,对现有文献进行了回顾,以确定问题的特征,包括负面后果和预防再进食综合征。结果:在这两种情况下,患者都发现了再进食综合征的发展,这是由于能量和营养基质在短时间内供应过量,之前是长达数月的饥饿和机体衰竭(两名患者的体重指数- BMI -降至约14 kg / m2的值)。患者1的症状主要涉及心血管系统:n端b型利钠前肽(NT-proBNP)浓度显著升高,心动过速,无机磷酸盐浓度降低,低钾血症。另一方面,在患者2的情况下,精神错乱或意识深度障碍等症状导致了重症监护病房的住院,这些症状在临床表现中占主导地位。结论:营养康复过程中可能出现再喂养综合征,特别是在突然、营养供应不充分的情况下。BMI极低的患者在重新引入营养时应特别小心。这些病例报告引起了人们对实现综合征的心血管并发症和精神障碍的关注,并指出了患者的行为(进食过量)可能导致再进食综合征的发展。
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引用次数: 0
The interaction between stress and metabolic disruption in student population – preliminary study 学生群体压力与代谢紊乱之间的相互作用——初步研究
Pub Date : 2021-12-01 DOI: 10.2478/cpp-2021-0022
J. Rog, Zuzanna Rząd, H. Karakuła-Juchnowicz
Abstract Introduction: Approximately 26% of individuals between 18 and 24 years old are overweight or obese, and the number of persons with excessive body mass index (BMI) is growing. Obesity increases the risk of metabolic disruptions, which is well connected with mental health problems. Stressful situations, including entering adulthood and starting university education, affect food choices negatively. The aim of the study was to examine the relationship between psychological stress and body composition in the student population. Materials and methods: The study group consisted of 80 students (76% of women and 24% of men) between 19 and 28 years old from universities in Lublin. To determine anthropometric measurement (fat-free mass (FFM), fat mass (FM), total body water (TBW), intracellular (ICF) and extracellular (ECF) fluids), bioelectrical impedance analysis (BIA) method was applied. The severity of stress symptoms was measured using Perceived Stress Scale (PSS-10). Results: When it comes to 41.25% of participants, they used relaxation techniques, mainly meditation, yoga practice and walking. Most students had optimal body weight. While 60% of individuals had high stress levels. The perceived stress was not related to using the relaxation methods. Individuals with the high stress severity were characterized by lower: TBW, ECF and ICF expressed in liters, and lower FFM represented in kilograms. The inverse relationship between the severity of stress and the aforementioned parameters was also detected (p<0.05). Conclusions: Implementing appropriate healt h education programs to prevent negat ive changes in ant hropometric measurements, psychological stress, and their health-related consequences in the student population should be considered.
摘要引言:在18 - 24岁的人群中,大约有26%的人超重或肥胖,并且身体质量指数(BMI)过高的人数正在增加。肥胖增加了代谢紊乱的风险,这与心理健康问题密切相关。压力环境,包括进入成年期和开始大学教育,会对食物选择产生负面影响。这项研究的目的是研究学生群体的心理压力和身体组成之间的关系。材料和方法:研究组由卢布林大学19至28岁的80名学生(76%的女性和24%的男性)组成。为了确定人体测量指标(无脂质量(FFM)、脂肪质量(FM)、全身水分(TBW)、细胞内(ICF)和细胞外(ECF)流体),采用生物电阻抗分析(BIA)方法。使用感知压力量表(PSS-10)测量压力症状的严重程度。结果:41.25%的参与者使用放松技巧,主要是冥想、瑜伽练习和散步。大多数学生都有最佳体重。而60%的人有高压力。感知压力与使用放松方法无关。应激严重程度高的个体TBW、ECF和ICF(以升表示)较低,FFM(以千克表示)较低。应激严重程度与上述参数呈负相关(p<0.05)。结论:应考虑实施适当的健康教育计划,以防止血色素测量的负面变化、心理应激及其在学生群体中的健康后果。
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引用次数: 1
Application of metacognitive strategies in the development of emotional and motivational self-regulation of students with special educational needs. Research on children with ADHD 元认知策略在特殊教育需要学生情绪与动机自我调节发展中的应用。对多动症儿童的研究
Pub Date : 2021-12-01 DOI: 10.2478/cpp-2021-0020
Kajka Natalia, Kulik Agnieszka
Abstract The aim of the presented study is to verify whether the visual methods (Mind Maps and Sketch-noting) considered as metacognitive strategies will help to strengthen emotional and motivational self-regulation in children with ADHD. In this experimental study, 135 participants took part, including 45 primary school students diagnosed with attention deficit hyperactivity disorder with the presentation of mixed symptoms (M = 10.41; SD = 1.42), their parents (N = 45) and teachers (N = 45). The results obtained in the study indicate that after 25 training sessions with the use of both Mind Maps and Sketch-noting, children with ADHD make significantly fewer errors than during the first measurement. However, only in the Sketch-noting group did their average reaction time increase significantly, which indicates that they are more reflective. The presented metacognitive strategies can be successfully applied at school by students with ADHD and constitute a source of support for both students and teachers.
摘要本研究的目的是验证视觉方法(思维导图和素描笔记)作为元认知策略是否有助于加强ADHD儿童的情绪和动机自我调节。在本实验研究中,135名参与者,包括45名被诊断为注意缺陷多动障碍的小学生,表现为混合症状(M = 10.41;SD = 1.42)、家长(N = 45)、教师(N = 45)。研究结果表明,在使用思维导图和素描笔记进行25次训练后,多动症儿童的错误明显少于第一次测量时的错误。然而,只有在做笔记的小组中,他们的平均反应时间明显增加,这表明他们更善于反思。所提出的元认知策略可以被ADHD学生成功地应用于学校,并为学生和教师提供支持。
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引用次数: 1
The impact of the COVID-19 pandemic on the development of anxiety disorders - a literature review COVID-19大流行对焦虑症发展的影响——文献综述
Pub Date : 2021-12-01 DOI: 10.2478/cpp-2021-0024
Mateusz Koch, K. Chmielowiec, Elzbieta Grzywacz, A. Suchanecka, J. Masiak, Jolanta Chmielowiec
Abstract Introduction: The COVID-19 is a disease caused by the SARS-CoV-2 virus. A number of psychological symptoms have been identified in people living during the COVID-19 pandemic. Most of them are associated with widely understood anxiety disorders, which have always been a significant problem for mental health. Materials and methods: The available literature was reviewed on the Pubmed platform and from other sources. The analysis included original studies, reviews, meta-analyzes and internet sources. The aim of the study was to review the literature on the relationship between the COVID-19 pandemic and the occurrence and severity of symptoms of anxiety disorders. Results: The studies conducted so far show that the COVID-19 pandemic has had a significant impact on the mental state of people around the world, especially in the area of anxiety disorders. Many studies indicate an increase in the prevalence of symptoms of generalized anxiety disorder. Research also indicates a greater incidence of post-traumatic stress disorder and panic disorder in society. Symptoms of somatization were also quite often observed in patients. However, the state of published studies indicates that the pandemic did not significantly affect the severity of symptoms associated with social phobia. In the context of phobic disorders, a new type has been formulated: COVID-19-related phobia. Conclusions: The conducted literature review shows that the current COVID-19 pandemic is associated with an increase in the prevalence of symptoms of anxiety disorders in the general population. The multifaceted nature of the issue of anxiety disorders in the COVID-19 pandemic clearly indicates the need to continue research in this area.
摘要简介:COVID-19是由SARS-CoV-2病毒引起的疾病。在COVID-19大流行期间生活的人群中发现了许多心理症状。其中大多数都与被广泛理解的焦虑症有关,焦虑症一直是心理健康的一个重大问题。材料和方法:在Pubmed平台和其他来源查阅现有文献。该分析包括原始研究、综述、元分析和互联网资源。本研究的目的是回顾有关COVID-19大流行与焦虑障碍症状发生和严重程度之间关系的文献。结果:目前开展的研究表明,2019冠状病毒病大流行对世界各地人们的精神状态产生了重大影响,特别是在焦虑症领域。许多研究表明,广泛性焦虑障碍症状的患病率有所增加。研究还表明,社会上创伤后应激障碍和恐慌障碍的发病率更高。躯体化的症状也经常在病人身上观察到。然而,已发表的研究表明,大流行并未显著影响与社交恐惧症相关症状的严重程度。在恐惧障碍的背景下,一种新的类型已经形成:covid -19相关恐惧症。结论:已开展的文献综述显示,当前的COVID-19大流行与普通人群中焦虑障碍症状的患病率增加有关。COVID-19大流行中焦虑症问题的多面性清楚地表明,有必要继续在这一领域开展研究。
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引用次数: 1
The concentration of MMP-9 and the effects of intravenous anaesthetics on the efficacy of electroconvulsive therapy in patients with drug-resistant depression MMP-9浓度及静脉麻醉对耐药抑郁症患者电休克治疗疗效的影响
Pub Date : 2021-12-01 DOI: 10.2478/cpp-2021-0023
Agnieszka Permoda-Pachuta, M. Skibińska, M. Dmitrzak-Węglarz, F. Rybakowski
Abstract Introduction: This study attempts to assess the concentration of intracellular matrix metalloproteinase (MMP-9) before and after the treatment of depressive episodes with ECT therapy and also to correlate the concentration of this enzyme with the use of commonly used general anaesthetics. Materials and methods: The study group comprised of 37 patients hospitalized in the Department of Adult Psychiatry in Poznan, with a diagnosis of episodes of drug-resistant depression during the course of bipolar and unipolar affective disorders, and who were being treated using electroconvulsive therapy. For the purpose of inducing anaesthesia during the procedure propofol was used in 10 cases, thiopental in 9 cases. Propofol was alternated with ketamine in a further 10 cases and thiopental was alternated with ketamine in another 9 cases. In order to assess the intensity of depression symptoms, the 17 point Hamilton depression scale was used, immediately before commencing ECT therapy, and one day after its completion. The serum concentration of MMP-9 was determined before and after the series of ECT treatments. In order to assess the serum concentration of MMP-9, an ELISA immunoenzymatic method was applied. Results: In this study, a significant reduction of MMP-9 concentration was noted after therapy, relative to the starting concentration, in the serum of patients suffering from depressive episodes resulting from either unipolar or bipolar affective disorders. These results correlated with improved psychiatric state, as assessed by the Hamilton scale. A significantly lower MMP-9 concentration was noted in the serum of patients given alternating thiopental and ketamine anaesthesia. Conclusions: This study suggests the importance of the enzyme as a biological marker for the effective treatment of depression. Furthermore, the choice of general anaesthetic applied during ECT also plays a role.
摘要:本研究旨在评估ECT治疗抑郁症发作前后细胞内基质金属蛋白酶(MMP-9)的浓度,并将该酶的浓度与常用全身麻醉剂的使用联系起来。材料和方法:研究组包括37名在波兹南成人精神科住院的患者,这些患者在双相和单相情感障碍期间被诊断为耐药抑郁症发作,并正在接受电休克治疗。术中应用丙泊酚10例,硫喷妥钠9例。另有10例丙泊酚与氯胺酮交替使用,另有9例硫喷妥钠与氯胺酮交替使用。为了评估抑郁症状的强度,在ECT治疗开始前和治疗结束后一天使用17分汉密尔顿抑郁量表。测定ECT治疗前后血清MMP-9浓度。采用ELISA免疫酶法测定血清中MMP-9的浓度。结果:在这项研究中,治疗后血清中由单极或双相情感障碍引起的抑郁发作患者的MMP-9浓度相对于开始浓度显著降低。根据汉密尔顿量表,这些结果与精神状态的改善相关。给予硫喷妥钠和氯胺酮交替麻醉的患者血清中MMP-9浓度明显降低。结论:本研究提示该酶作为有效治疗抑郁症的生物学标志物的重要性。此外,在电痉挛治疗过程中,全身麻醉的选择也起作用。
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引用次数: 0
Family factors and personality factors affecting daily SNS usage in individuals aged 14-19 years 家庭因素和人格因素影响14-19岁个体的日常SNS使用
Pub Date : 2021-11-15 DOI: 10.2478/cpp-2021-0009
B. Pawłowska, Agnieszka Dyzma
Abstract Introduction: In recent years, social networking sites (SNS), such as Facebook, Twitter or Instagram have gained immense popularity and have become an essential part of many people’s everyday lives. In Poland, 19 million people, i.e. about a half of the whole population, are active SNS users. Aim: The aim of the present study was to analyze the relationship of family and personality factors with daily SNS usage time in adolescents aged 14 to 19 years. Participants: The study included 291 junior-high and high school students aged 14–19 years. In this sample, 246 individuals had an SNS profile. Methods: The following instruments were used: an Inquiry Form designed by the present authors, Gough and Heilbrun’s Adjective Check List, the Coping with Stress Questionnaire by Janke, Erdmann and Boucsein and the Buss and Durkee Hostility-Guilt Inventory. Results: Based on correlation coefficients, significant associations were found between increased daily SNS usage and negative relationships with parents, maladaptive coping, and increased aggression. Conclusions: 1. Participants who spent more time using SNS were more likely to feel lonely in their families and have a sense of not being accepted and understood by their parents. 2. Young people who spent more time using SNS were more likely to respond to a stressful situation with a sense of helplessness and resignation and to cope by downplaying their problems and seeking substitute gratification or support. 3. Young people who spent more time using SNS were more likely to respond with indirect aggression, negativism, suspicion, hostility and verbal aggression.
摘要:近年来,社交网站(SNS)如Facebook、Twitter或Instagram获得了极大的普及,并成为许多人日常生活中必不可少的一部分。在波兰,有1900万人是活跃的SNS用户,约占总人口的一半。目的:分析14 ~ 19岁青少年社交网络日常使用时间与家庭、人格因素的关系。参与者:研究对象为291名14-19岁的初中生和高中生。在这个样本中,有246个人拥有社交网络资料。方法:采用作者设计的问卷、Gough和Heilbrun的形容词检查表、Janke、Erdmann和Boucsein的应对压力问卷和Buss和Durkee的敌意-内疚量表。结果:基于相关系数,每日SNS使用增加与与父母的负性关系、适应不良应对和攻击增加之间存在显著关联。结论:1。花更多时间使用社交网络的参与者更有可能在家庭中感到孤独,并且有一种不被父母接受和理解的感觉。2. 花更多时间使用社交网络的年轻人更有可能以无助感和顺从感来应对压力,并通过淡化问题和寻求替代满足或支持来应对。3.花更多时间使用社交网络的年轻人更有可能以间接攻击、消极、怀疑、敌意和言语攻击来回应。
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引用次数: 0
Brief psychotic disorder occurring after Covid-19 in a patient with no history of psychiatric diseases - a case report 无精神病史的患者感染Covid-19后出现短暂精神障碍1例报告
Pub Date : 2021-09-01 DOI: 10.2478/cpp-2021-0014
Julita Poleszak-Szabat, Małgorzata Romaniuk-Suswał, P. Krukow
Abstract Introduction: Although the typical symptoms of SARS-CoV-2 infection are respiratory symptoms, it has been shown that the virus can also attack the central nervous system (CNS) causing neurological and psychiatric symptoms. Aim: The aim of the study was to present a case of a 52-year-old woman, previously untreated for psychiatric diseases, who developed brief psychotic disorder occurring after Covid-19 infection. Case report: A patient in the biological treatment of asthma, came for a follow-up visit, during which the doctor diagnosed psychopathological symptoms in the form of delusions, never previously observed. The interview showed that the patient was discharged from the Isolation ward 10 days before, where she was hospitalized because of SARS-CoV-2 infection. Discussion: There are several theories regarding the mechanisms of pathogenesis of neuropsychiatric symptoms in the course of Covid-19 infection. Much space in the literature is devoted to pathological immune responses. One of the reasons for the development of delusions in the described patient could therefore be the acute phase of the inflammatory reaction in the course of SARS-CoV-2 infection.
摘要简介:虽然SARS-CoV-2感染的典型症状是呼吸道症状,但研究表明,该病毒也可以攻击中枢神经系统(CNS),引起神经和精神症状。目的:该研究的目的是介绍一例52岁的女性,此前未治疗精神疾病,在Covid-19感染后出现短暂的精神障碍。病例报告:一名接受哮喘生物治疗的患者来进行随访,期间医生诊断出以妄想形式出现的精神病理症状,以前从未观察到。采访显示,患者因感染SARS-CoV-2入院,10天前从隔离病房出院。讨论:关于Covid-19感染过程中神经精神症状的发病机制有几种理论。在文献中有很多空间致力于病理免疫反应。因此,上述患者出现妄想的原因之一可能是SARS-CoV-2感染过程中炎症反应的急性期。
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引用次数: 0
Pandemic heroes or victims? Healthcare professionals’ well-being during Covid-19 pandemic 流行病英雄还是受害者?Covid-19大流行期间医护人员的福祉
Pub Date : 2021-09-01 DOI: 10.2478/cpp-2021-0012
E. Soroka
Abstract Introduction and aim: The SARS-CoV-2 pandemic had a significant impact on the mental condition of the society, increasing anxiety and fear for the future. High levels of anxiety, stress and depression have been observed in the general population. Nurses and doctors, who are in direct contact with patients and their body fluids, are at the highest risk of infection. The aim of this study was to look at the psychiatric health aspects of health care professionals in general during the pandemic. State of knowledge: Work overload and stress-related symptoms make healthcare workers particularly vulnerable to mental distress, increasing the risk of developing mental disorders. Among them, women, students and nurses were most affected. A German study found that nurses working with COVID-19 patients in particular are mentally affected by the consequences of the pandemic. This may be due to the higher workload and the longer time spent in direct contact with COVID-19 patients compared to doctors. The available literature confirmed the construct of coronaphobia in health care workers. The issue of insufficient personalization of protective equipment and the associated feelings of fear and stigma as well as the need for psychological help are addressed and psychiatric services for healthcare professionals. Material and methods: At the beginning of this year, 30 people from the clinical hospital in Lublin were surveyed using a questionnaire containing several questions concerning, among others, comfort of work in the current epidemiological situation, The Patient Health Questionnaire-9, The Generalized Anxiety Disorder-7 and Mini-COPE. Conclusions: The work shows the mental health problems faced by health service representatives on a daily basis in connection with the pandemic that has been going on for many months. The features of depression-anxiety disorders affect the medical staff. The attitude of solidarity and cooperation of all members of society during the pandemic is important.
摘要简介与目的:SARS-CoV-2大流行对社会心理状况产生了重大影响,增加了人们对未来的焦虑和恐惧。人们在普通人群中观察到高度焦虑、压力和抑郁。与患者及其体液直接接触的护士和医生感染的风险最高。本研究的目的是研究大流行期间一般卫生保健专业人员的精神健康方面。现状:超负荷工作和压力相关症状使卫生保健工作者特别容易受到精神困扰,增加了患精神障碍的风险。其中,女性、学生和护士受影响最大。德国的一项研究发现,与COVID-19患者一起工作的护士尤其受到大流行后果的精神影响。这可能是由于与医生相比,工作量更大,与COVID-19患者直接接触的时间更长。现有文献证实了医护人员冠状病毒恐惧症的结构。解决了防护装备个性化不足的问题、相关的恐惧和耻辱感以及对心理帮助的需求,并为卫生保健专业人员提供了精神病服务。材料和方法:今年年初,对卢布林临床医院的30人进行了问卷调查,问卷中有几个问题,其中包括:在当前流行病学形势下的工作舒适度、患者健康问卷-9、广泛性焦虑症-7和Mini-COPE。结论:这项工作显示了卫生服务代表每天面临的与持续数月的大流行有关的心理健康问题。抑郁焦虑障碍的特点影响着医务人员。在大流行期间,所有社会成员团结合作的态度很重要。
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引用次数: 0
The role of leptin in patients recovering from Anorexia Nervosa 瘦素在神经性厌食症患者康复中的作用
Pub Date : 2021-09-01 DOI: 10.2478/cpp-2021-0013
Zuzanna Rząd, J. Rog
Abstract Introduction: Anorexia nervosa (AN) is a mental disorder with the highest death rate. The characteristic feature of AN is endocrine dysregulations, including changes in adipose-tissue secreted hormones, especially adipokines. The most widely studied of them is leptin whose role in the pathophysiology and prognosis of AN is confirmed in more and more studies. The aim of the study was to summarize the role of endocrine disruptions with particular emphasis on leptin in the pathophysiology of AN. Material and methods: For the literature review, the electronic databases PubMed, Cochrane and Google Scholar search were used with the following keywords: eating disorders, adipokines, leptin, metreleptin, satiety, hunger, anorexia, obesity, for studies listed from database inception to October 2021. Results: Leptin, produced mainly by white adipose tissue, inhibits the hunger center in the hypothalamus by negative feedback with ghrelin secreted by the gastrointestinal tract. Leptin is involved in numerous biological functions, including body weight regulation, innate and adaptive immunity regulation, reproduction, and bone formation. Studies confirm decreased leptin levels in AN individuals. In recent years, extensive experience has been gained with leptin as a drug in clinical trials. The studies suggested that treatment can restore menstrual function and bone health and improve mood with unclear body weight effects. Conclusions: Focusing on leptin-related changes is a promising approach to improve AN management. Assessment of leptin levels in AN patients could be a useful tool for therapy monitoring. Treatment with leptin could reverse unfavourable changes induced by diet restriction, including mood symptoms, loss of bone mass and menstrual function. However, the results of these studies need confirmation on larger groups of patients.
摘要简介:神经性厌食症(Anorexia nervosa, AN)是死亡率最高的精神障碍。AN的特征是内分泌失调,包括脂肪组织分泌激素,尤其是脂肪因子的改变。其中研究最广泛的是瘦素,其在AN的病理生理和预后中的作用被越来越多的研究证实。该研究的目的是总结内分泌干扰的作用,特别强调瘦素在AN的病理生理。材料与方法:文献综述使用PubMed、Cochrane和谷歌Scholar检索电子数据库,检索关键词:饮食失调、脂肪因子、瘦素、美甲瘦素、饱腹感、饥饿、厌食症、肥胖,检索时间为数据库建立至2021年10月。结果:主要由白色脂肪组织产生的瘦素通过胃肠道分泌的胃饥饿素负反馈抑制下丘脑的饥饿中枢。瘦素参与许多生物学功能,包括体重调节、先天和适应性免疫调节、生殖和骨形成。研究证实a个体瘦素水平下降。近年来,瘦素作为一种药物在临床试验中获得了广泛的经验。研究表明,治疗可以恢复月经功能和骨骼健康,改善情绪,但体重影响尚不清楚。结论:关注瘦素相关变化是改善AN管理的有效方法。评估AN患者的瘦素水平可能是治疗监测的有用工具。用瘦素治疗可以逆转由饮食限制引起的不利变化,包括情绪症状、骨量减少和月经功能。然而,这些研究的结果需要在更大的患者群体中得到证实。
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引用次数: 0
Genetic determinants of autism spectrum disorders - a review 自闭症谱系障碍的遗传决定因素综述
Pub Date : 2021-09-01 DOI: 10.2478/cpp-2021-0011
Paweł Stanicki, Konrad Goliszek, Karol Kasprzak, A. Makarewicz
Abstract Introduction: It is estimated that various types of abnormalities from the autistic spectrum disorder occur in up to 2% of the population. These include difficulties in maintaining relationships, communication, and repetitive behaviours. Literature describes them quite well, in contrast to the causes of these disorders, which include both environmental factors and a very long list of genetic aberrations. Materials and methods: The papers available on the PubMed platform and other sources were reviewed to describe the most important genetic factors responsible for the development of autism spectrum disorders. Results: There are many genes and their mutations associated with the prevalence of autism spectrum disorders in patients. One of the main factors is the SHANK gene family, with the type and degree of abnormality in patients depending on the damage to particular genes: SHANK1-SHANK3. Research also shows the potential of targeted symptom-relieving therapies in patients with SHANK3 mutations. A correlation with the occurrence of autism has also been demonstrated for genes responsible for calcium signaling - especially the group of IP3R calcium channels. Their calcium transmission is abnormal in the majority of patients with autism spectrum disorders. A number of mutations in the 7q region were discovered - including the AUTS2, GNAI1, RELN, KMT2E, BRAF genes - the occurrence of which is associated with the presence of symptoms of autism. Autism spectrum disorders occur in about 10% of patients suffering from monogenic syndromes such as fragile X chromosome syndrome, Timothy syndrome, tuberous sclerosis, Rett syndrome or hamartomatic tumor syndrome. Conclusions: Research shows that many mutations can contribute to the development of autism spectrum disorders. Further studies are necessary to discover their therapeutic and diagnostic potential for autism.
摘要简介:据估计,自闭症谱系障碍的各种类型的异常发生在高达2%的人口中。这些包括维持关系、沟通和重复行为的困难。文献对它们的描述很好,而这些疾病的原因包括环境因素和一长串的遗传畸变。材料和方法:对PubMed平台和其他来源的论文进行了回顾,描述了导致自闭症谱系障碍发展的最重要的遗传因素。结果:自闭症谱系障碍患者的发病与多种基因及其突变有关。其中一个主要因素是SHANK基因家族,患者的异常类型和程度取决于特定基因的损伤:SHANK1-SHANK3。研究还显示针对SHANK3突变患者的靶向症状缓解疗法的潜力。与自闭症的发生有关的基因也被证明是负责钙信号的基因,尤其是IP3R钙通道组。他们的钙传递在大多数自闭症谱系障碍患者中是异常的。在7q区域发现了许多突变——包括AUTS2、GNAI1、RELN、KMT2E、BRAF基因——这些突变的发生与自闭症症状的出现有关。大约10%患有单基因综合征的患者会出现自闭症谱系障碍,如脆性X染色体综合征、蒂莫西综合征、结节性硬化症、Rett综合征或错构瘤综合征。结论:研究表明,许多突变可以促进自闭症谱系障碍的发展。需要进一步的研究来发现它们对自闭症的治疗和诊断潜力。
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引用次数: 0
期刊
Current Problems of Psychiatry
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