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Epigenetic Correction and Early Brain Pharmacotherapy in Down Syndrome 唐氏综合征的表观遗传矫正和早期脑部药物治疗
Pub Date : 2024-02-08 DOI: 10.12970/2310-8231.2024.12.01
J. Rondal
Down syndrome (DS) is the most frequent autosomal aneuploidy. It refers to a genetic condition due to the triplication of human chromosome 21 (Hsa21). Disruption of the phenotype is thought to be the result of gene-dosage imbalance. This phenotype is always characterized by neurodevelopmental anomalies. Additionally, persons with DS have higher risks of several medical challenges. These include congenital heart disease, susceptibility to viruses and immune defects, metabolic changes, and hematopoietic abnormalities. In recent years, experimental work has been conducted with the aim of correcting overexpressed genes on chromosome 21 or silencing the extra chromosome 21 to normalize genetic expression. The paper examines the clinical feasibility of these attempts and identifies several caveats. Improving neurogenesis, dendritic density and synaptic connectivity with pharmacological substances is more at hand with the current technical knowledge and legal provisos.
唐氏综合征(DS)是最常见的常染色体非整倍体。它是指由于人类 21 号染色体(Hsa21)三倍体造成的遗传病。表型的破坏被认为是基因剂量失衡的结果。这种表型总是以神经发育异常为特征。此外,DS 患者罹患多种疾病的风险较高。其中包括先天性心脏病、对病毒的易感性和免疫缺陷、代谢变化和造血异常。近年来,人们开展了一些实验工作,旨在纠正 21 号染色体上过度表达的基因或沉默多余的 21 号染色体,使基因表达正常化。本文探讨了这些尝试在临床上的可行性,并指出了一些注意事项。就目前的技术知识和法律规定而言,利用药理物质改善神经发生、树突密度和突触连接更为可行。
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引用次数: 0
Epigenetic Correction and Early Brain Pharmacotherapy in Down Syndrome 唐氏综合征的表观遗传矫正和早期脑部药物治疗
Pub Date : 2024-02-08 DOI: 10.12970/2310-8231.2024.12.01
J. Rondal
Down syndrome (DS) is the most frequent autosomal aneuploidy. It refers to a genetic condition due to the triplication of human chromosome 21 (Hsa21). Disruption of the phenotype is thought to be the result of gene-dosage imbalance. This phenotype is always characterized by neurodevelopmental anomalies. Additionally, persons with DS have higher risks of several medical challenges. These include congenital heart disease, susceptibility to viruses and immune defects, metabolic changes, and hematopoietic abnormalities. In recent years, experimental work has been conducted with the aim of correcting overexpressed genes on chromosome 21 or silencing the extra chromosome 21 to normalize genetic expression. The paper examines the clinical feasibility of these attempts and identifies several caveats. Improving neurogenesis, dendritic density and synaptic connectivity with pharmacological substances is more at hand with the current technical knowledge and legal provisos.
唐氏综合征(DS)是最常见的常染色体非整倍体。它是指由于人类 21 号染色体(Hsa21)三倍体造成的遗传病。表型的破坏被认为是基因剂量失衡的结果。这种表型总是以神经发育异常为特征。此外,DS 患者罹患多种疾病的风险较高。其中包括先天性心脏病、对病毒的易感性和免疫缺陷、代谢变化和造血异常。近年来,人们开展了一些实验工作,旨在纠正 21 号染色体上过度表达的基因或沉默多余的 21 号染色体,使基因表达正常化。本文探讨了这些尝试在临床上的可行性,并指出了一些注意事项。就目前的技术知识和法律规定而言,利用药理物质改善神经发生、树突密度和突触连接更为可行。
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引用次数: 0
Prevalence and Correlates of Self-Injury among Adolescents: A Cross-Sectional Study 青少年自伤患病率及其相关性的横断面研究
Pub Date : 2022-12-29 DOI: 10.12970/2310-8231.2022.10.02
Priscila Naves Domingues, Tatiana Fonseca Da Silva
Introduction: Non-suicidal self-injury (NSSI) is defined as a deliberate and voluntary self-inflicted physical damage without suicidal intent. However, the risk of suicide is significantly higher among those who have previously engaged in NSSI. Adolescents are at risk for developing this type of behavior, as elevated levels of impulsivity and emotional reactivity are present due to brain developmental processes. Methods: A cross-sectional survey that collected data from a sample of 140 adolescents from two Brazilian public schools in august of 2018. The prevalence of self-injury was calculated, and related factors were analyzed, such as sex, socioeconomic status, age of onset, recurrence, intention to die and healthcare assistance. Results: The prevalence of self-injury was 25% (n = 35) in the sample. Girls were seven times more likely to practice self-injury than boys (OR 7.42; 95% CI 2.80-19.66; p<0.001). However, boys were more likely to have intention to die, recurrence, absence of pain, and no healthcare assistance. The age of onset was 13 to 15 years for most cases. More than one third of participants reported multiple episodes of self-injury (five episodes or more) and they were 13 times more likely to have intention to die (OR 13.2; 95% CI 1.44-120.69; p=0.010). Only one person reported using medication on a daily basis (selective serotonin reuptake inhibitor) and 28.6% reported undergoing professional healthcare assistance. Conclusion: Self-injury is a prevalent behavior in adolescents, that potentially results in psychological and physical impairments. Further research to achieve a better understanding of clinical and epidemiological features of self-injury is essential so that more effective preventive and therapeutic interventions can be developed to target the needs of young people worldwide.
引言:非自杀性自伤(NSSI)是指在没有自杀意图的情况下故意和自愿造成的身体伤害。然而,在那些以前参与过NSSI的人中,自杀的风险要高得多。青少年有发展这种行为的风险,因为大脑发育过程会导致冲动和情绪反应水平升高。方法:一项横断面调查,于2018年8月从巴西两所公立学校的140名青少年样本中收集数据。计算了自伤的发生率,并分析了相关因素,如性别、社会经济地位、发病年龄、复发、死亡意向和医疗援助。结果:自伤发生率为25%(n=35)。女孩自伤的可能性是男孩的7倍(OR 7.42;95%CI 2.80-19.66;p<0.001)。然而,男孩更有可能死亡、复发、没有疼痛和没有医疗援助。大多数病例的发病年龄为13至15岁。超过三分之一的参与者报告了多次自伤发作(5次或5次以上),他们有死亡意图的可能性是其他参与者的13倍(or 13.2;95%CI 1.44-120.69;p=0.010)。只有一人报告每天使用药物(选择性血清素再摄取抑制剂),28.6%的人报告接受了专业医疗援助。结论:自伤是青少年的一种普遍行为,可能导致心理和身体损伤。进一步研究以更好地了解自伤的临床和流行病学特征至关重要,这样才能制定更有效的预防和治疗干预措施,以满足世界各地年轻人的需求。
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引用次数: 0
Dynamics of Panic Disorders in the Study of Psychological Readiness of Personality for Professional Activity 惊恐障碍在人格职业活动心理准备研究中的动态
Pub Date : 2022-05-19 DOI: 10.12970/2310-8231.2022.10.01
Olena Ihnatovych, O. Ivanova, O. Radzimovska, Halyna Tataurova-Osyka
The article highlights the results of the applied study "Development of psychological readiness of teachers for professional activities in the New Ukrainian School", conducted at the Ivan Ziaziun Institute of Pedagogical and Adult Education of NAES of Ukraine. The main tendencies and influence of anxiety states on the psychological readiness of the individual for professional activity during the implementation of the NUS Concept under the conditions of quarantine and war are analyzed. The peculiarities of the dynamics of panic disorders due to being under the conditions of hostilities are highlighted.
这篇文章强调了在乌克兰国立教育学院伊万·齐亚津教育和成人教育研究所进行的应用研究“新乌克兰学校教师对专业活动的心理准备发展”的结果。分析了在隔离和战争条件下实施NUS概念过程中,焦虑状态对个人职业活动心理准备的主要倾向和影响。强调了由于处于敌对状态而造成的恐慌性混乱的动态特点。
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引用次数: 0
The Use of Levomepromazine, a.k.a. Methotrimeprazine, a.k.a. Nozinan, in Child and Adolescent Psychiatry 儿童和青少年精神病学中左旋丙嗪(又称甲氨蝶呤,又称诺齐南)的使用
Pub Date : 2021-07-07 DOI: 10.12970/2310-8231.2021.09.07
J. Lambe
Levomepromazine is rarely used in child and adolescent psychiatry. Four cases are described where extreme behavioural disturbance responded favourably and promptly to oral prescription. Two additional cases are described where ceasing levomepromazine led to early signs of what was probably tardive dyskinesia, resolving completely.
左旋丙嗪很少用于儿童和青少年精神病学。描述了四个极端行为障碍对口服处方反应良好且迅速的案例。描述了另外两个病例,其中停止使用左甲丙嗪导致可能是迟发性运动障碍的早期迹象,并完全缓解。
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引用次数: 0
The Global COVID-19 Pandemic Quarantining Effect on Mental Health, Sleeping Quality and Life-Style 全球COVID-19大流行隔离对心理健康、睡眠质量和生活方式的影响
Pub Date : 2021-06-25 DOI: 10.12970/2310-8231.2021.09.06
A. Bener, Erol Yildirim, C. Barışık, Turker Demirtakan
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引用次数: 1
Psychological Interventions for Sleep Problems during COVID19 Pandemic: What we Know? covid - 19大流行期间睡眠问题的心理干预:我们知道什么?
Pub Date : 2021-02-11 DOI: 10.12970/2310-8231.2021.09.04
Pablo Luis López
Sleep problems have been frequently reported in the context of the COVID-19 pandemic. Although psychological treatment is the first line of treatment for these problems, the evidence is still scant in this context. This paper summarizes the state of the art of the study of the efficacy of non-pharmacological treatment for the treatment of sleep problems in the general population and in health workers.
在2019冠状病毒病大流行的背景下,睡眠问题经常被报道。虽然心理治疗是治疗这些问题的第一线,但在这方面的证据仍然不足。本文总结了非药物治疗在普通人群和卫生工作者中治疗睡眠问题的疗效研究的最新进展。
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引用次数: 0
Study on TCM Syndrome of Bipolar Mania: Data From Domestic Published Manic Disorder With Multiple Syndromes Treated by Integrated Traditional Chinese and Western Medicine 双相躁狂中医证候研究:来自国内发表的中西医结合治疗躁狂症多证候的资料
Pub Date : 2020-12-25 DOI: 10.12970/2310-8231.2020.08.09
Sun Fengli, Zhu Jianfeng, W. Zhiqiang, J. Weidong
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引用次数: 0
Narcissism: Groundwork for Sectarian Misdemeanors 自恋:宗派不端行为的基础
Pub Date : 2020-07-01 DOI: 10.36811/ijpmh.2020.110008
S. Shafti
In DSM-5, the sector of ‘Other Conditions That May Be a Focus of Clinical Attention’, has discussed about cults. The said section covers all conditions and problems that are a focus of clinical attention or that may otherwise affect the diagnosis, course, prognosis, or treatment of a patient's mental disorder. While cults are usually led by charismatic leaders, who offer acceptance and guidance to troubled followers, cult followers are strongly controlled and forced to dissolve commitment to family and others to serve the cult leader's directives and personal needs. On the other hand, there were many cult leaders, who have been convicted of violent or non-violent crimes, as a commander or committer, before, during or after their period as a cult leader. While many bio-psycho-social factors involve in the grouping and formation of sects or cults, numerous dynamics, too, may prepare the group’s state of mind for perpetrating crime. Among a number of conceivable historical, cultural, or radical causes, while psychopathy, at all times, have had a firm position in forensic psychiatry, narcissism, whether as a primary trait or as a misleadingly stirred quality, have been generally over looked. Interrelationship between narcissism and psychopathy, from one hand, and the scarce set of circumstances, on the other hand, may create a situation, full of mix-ups, which can be continued melancholically and hazardously. In the present article, the likely role of narcissism, among numerous mechanisms that may involve in establishment of sectarian misbehavior, will be discussed in more detail. Keywords: Cult; Sect; Narcissism; Psychopathy; Crime
在DSM-5中,“可能成为临床关注焦点的其他疾病”部分讨论了邪教。上述部分涵盖了临床关注的焦点或可能以其他方式影响患者精神障碍的诊断、病程、预后或治疗的所有条件和问题。虽然邪教通常由魅力领袖领导,他们为陷入困境的信徒提供接纳和指导,但邪教信徒受到严格控制,被迫解除对家庭和他人的承诺,以满足邪教领袖的指示和个人需求。另一方面,有许多邪教领袖,他们在担任邪教领袖之前、期间或之后,作为指挥官或执法者,被判犯有暴力或非暴力罪行。虽然许多生物心理社会因素涉及到教派或邪教的分组和形成,但许多动态因素也可能为该团体的犯罪心理状态做好准备。在许多可以想象的历史、文化或激进的原因中,尽管精神病在任何时候都在法医精神病学中占有坚定的地位,但自恋,无论是作为一种主要特征还是作为一种误导性的激动性质,通常都被忽视了。一方面,自恋和精神病之间的相互关系,另一方面,稀缺的环境可能会造成一种充满混乱的局面,这种局面可能会忧郁地、危险地持续下去。在本文中,自恋的可能作用,在众多可能涉及建立宗派不当行为的机制中,将更详细地讨论。关键词:崇拜;教派;自恋;精神病;犯罪
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引用次数: 4
A Case of Myotonia Congenita and Schizophrenia: Difficulties in Treatment with Antipsychotics due to Hypersensitivity to Extrapyramidal Symptoms 先天性肌强直合并精神分裂症1例:对锥体外系症状过敏的抗精神病药物治疗困难
Pub Date : 2019-11-13 DOI: 10.36811/ijpmh.2019.110006
J. Rey, PharmD, Bcpp, Huy Pham, Lauren Blue, P. student, Carolina Liriano
Myotonia congenita is a rare non-dystrophic skeletal muscle disease characterized by an inability to relax skeletal muscles after abrupt voluntary movements. Patients with this condition have stiff muscles and difficulty with mobility, especially when initiating movement after periods of rest. It is well known that movement disorders are a common side effect of antipsychotics due to their ability to antagonize dopamine 2 receptors in the extrapyramidal part of the basal ganglia. The purpose of this case is to describe the effects antipsychotics had on a 59-year-old Caucasian male with comorbid myotonia congenita and schizophrenia in an inpatient psychiatric hospital setting. Medication trials of ziprasidone, haloperidol and clozapine exacerbated his myotonic symptoms leading to falls and complaints of severe muscle stiffness, which were relieved upon discontinuation of all antipsychotic medications. This suggests that patients with myotonia congenita may have an increased sensitivity to the extrapyramidal side effect profile of antipsychotics. Treatment options for this patient case are discussed with an emphasis on lamotrigine.Keywords: Myotonia congenita; Schizophrenia; Myopathy; Antipsychotics; Extrapyramidal symptoms
先天性肌强直是一种罕见的非营养不良骨骼肌疾病,其特征是在突然的自主运动后无法放松骨骼肌。患者有肌肉僵硬和活动困难,特别是在休息一段时间后开始活动。众所周知,运动障碍是抗精神病药物的常见副作用,因为它们能够拮抗基底神经节锥体外系部分的多巴胺2受体。本病例的目的是描述抗精神病药物对一个59岁的白人男性合并先天性肌强直和精神分裂症在精神病院的住院设置的影响。齐拉西酮、氟哌啶醇和氯氮平的药物试验加重了他的肌强直症状,导致跌倒和严重肌肉僵硬,在停止所有抗精神病药物后缓解。这表明先天性肌强直患者可能对抗精神病药物的锥体外系副作用更敏感。本病例的治疗方案以拉莫三嗪为重点进行了讨论。关键词:先天性肌强直;精神分裂症;肌病;抗精神病药物;锥体外系症状
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引用次数: 0
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International journal of clinical psychiatry and mental health
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