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Clinically Diagnosed Occult Macular Dystrophy Habouring an m.14502T>C Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy: Case Report and Literature Review. 临床诊断为隐性黄斑营养不良,伴有 m.14502T>C 线粒体 DNA 突变,与 Leber 遗传性视神经病变有关:病例报告和文献综述。
IF 0.8 Pub Date : 2023-07-05 eCollection Date: 2023-01-01 DOI: 10.1080/01658107.2023.2231077
Han Peng Zhou, Hiromasa Sawamura, Natsuko Nakamura, Akiko Yamagami, Ryoma Yasumoto, Kyoko Kasai, Ryo Obata, Makoto Aihara

A 29-year-old female with no family history presented with bilateral progressive blurred vision. Her symptoms appeared at 12-years-old and her visual acuity had since deteriorated from 0.6 to 0.2 bilaterally with decreased critical flicker frequency and bilateral central scotomas. She did not have a relative afferent pupillary defect. Fundoscopy revealed no distinct disc hyperaemia, atrophy, or peripapillary telangiectatic vessels. The retinal nerve fibre layer appeared normal on optical coherence tomography in each eye; however, loss of the interdigitation zone and the disruption of the ellipsoid zone at the fovea were observed in both eyes. Multifocal electroretinography revealed decreased amplitudes at both macula regions. Mitochondrial deoxyribonucleic acid analysis identified an m.14502T>C mutation, one of the primary mutations causing Leber's hereditary optic neuropathy (LHON). Despite the presence of a marked LHON mutation, however, she was clinically diagnosed as having an occult macular dystrophy. There have only been five previous case reports, all of which were sporadic, which detail the clinical characteristics of the m.14502T>C mutation. The m.14502T>C phenotype is somewhat consistent with that of the other major mutations, including young onset, bilateral progressive visual impairment, and a typical LHON fundus. Nevertheless, m.14502T>C alone has an extremely low penetrance and its phenotype may be minimal or subclinical, as seen in our case. Since little is known about the clinical course of the m.14502T>C mutation it may be possible that the LHON phenotype may appear in later stages of life. Moreover, m.14502T>C may function as a modifier gene, which alters the phenotype of other coexisting major LHON mutations, including penetrance and the severity of the disease, through synergistic effects.

一名无家族史的 29 岁女性因双侧进行性视力模糊前来就诊。她的症状出现于 12 岁,视力从 0.6 下降到 0.2,临界闪烁频率降低,并伴有双侧中心性焦斑。她没有相对的瞳孔传入缺陷。眼底镜检查未发现明显的视盘高血、萎缩或毛细血管扩张。两只眼睛的视网膜神经纤维层在光学相干断层扫描中均显示正常,但在两只眼睛中均观察到交织区的消失和眼窝处椭圆区的破坏。多灶视网膜电图显示,两只眼睛黄斑区的振幅都有所下降。线粒体脱氧核糖核酸分析发现了m.14502T>C突变,这是导致勒伯遗传性视神经病变(LHON)的主要突变之一。尽管存在明显的 LHON 突变,但临床诊断她患有隐性黄斑营养不良症。此前仅有五例病例报告详细描述了m.14502T>C突变的临床特征,这些病例均为散发性。m.14502T>C 的表型与其他主要突变的表型有些一致,包括年轻发病、双侧进行性视力损害和典型的 LHON 眼底。尽管如此,m.14502T>C 本身的渗透率极低,其表型可能极小或亚临床,就像我们的病例一样。由于对 m.14502T>C 基因突变的临床过程知之甚少,因此 LHON 表型有可能出现在生命的晚期。此外,m.14502T>C 可能是一个修饰基因,通过协同作用改变其他共存的主要 LHON 基因突变的表型,包括渗透性和疾病的严重程度。
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引用次数: 0
Social and physical anhedonia in relation to grandiose and vulnerable narcissism. 与浮夸和脆弱自恋有关的社会和身体快感缺乏
IF 1 Pub Date : 2021-03-25 eCollection Date: 2021-01-01 DOI: 10.5114/cipp.2021.104595
Magdalena Linke-Jankowska, Konrad S Jankowski

Background: Narcissism has two different dimensions which differ in terms of social functioning. Grandiose narcissism is associated with higher extraversion, while vulnerable narcissism is associated with greater introversion. Both forms of narcissism present numerous forms of social maladjustment. Anhedonia (social and physical) is associated with measures of social maladjustment and is one of the core symptoms of serious mental conditions. The aim of the current study was to investigate the relationship between social and physical anhedonia and the two forms of narcissism, grandiose and vulnerable.

Participants and procedure: A sample of 339 young adults completed the Polish version of the Hypersensitive Narcissism Scale, the Narcissistic Personality Inventory, and two subscales of the Wisconsin Schizotypy Scales - Short Form: the Revised Social Anhedonia Scale and the Physical Anhedonia Scale.

Results: We found a positive correlation between social anhedonia and vulnerable narcissism, and a negative correlation between social anhedonia and grandiose narcissism. Physical anhedonia was not related to any form of narcissism. Older people and men scored higher on the social anhedonia scale.

Conclusions: Vulnerable narcissistic personality is associated with social deficits, namely social anhedonia. Future research could investigate the relationship between vulnerable narcissism and schizotypy to establish whether vulnerable personality is a risk factor for developing serious mental illnesses.

我们发现社交性快感缺乏与脆弱型自恋呈正相关,而社交性快感缺乏与浮夸型自恋呈负相关。身体快感缺乏与任何形式的自恋都没有关系。在
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引用次数: 1
Realization of a stroboscopic optical lattice for cold atoms with subwavelength spacing. 实现亚波长间距冷原子频闪光栅。
IF 2.6 Pub Date : 2020-01-01 DOI: 10.1103/physreva.101.041603
T-C Tsui, Y Wang, S Subhankar, J V Porto, S L Rolston

Optical lattices are typically created via the ac Stark shift and are limited by diffraction to periodicities ⩾ λ/2, where λ is the wavelength of light used to create them. Lattices with smaller periodicities may be useful for many-body physics with cold atoms and can be generated by stroboscopic application of a phase-shifted lattice with subwavelength features. Here we demonstrate a λ/4-spaced lattice by stroboscopically applying optical Kronig-Penney-like potentials which are generated using spatially dependent dark states. We directly probe the periodicity of the λ/4-spaced lattice by measuring the average probability density of the atoms loaded into the ground band of the lattice. We measure lifetimes of atoms in this lattice and discuss the mechanisms that limit the applicability of this stroboscopic approach.

光学晶格通常是通过交流斯塔克偏移产生的,并受衍射的限制,其周期性⩾ λ/2,其中 λ 是用于产生晶格的光波长。具有较小周期性的晶格可能对冷原子的多体物理学有用,可以通过频闪应用具有亚波长特征的相移晶格来生成。在这里,我们展示了通过频闪应用光学克罗尼格-彭尼电势产生的λ/4间隔晶格。我们通过测量装入晶格基带的原子的平均概率密度,直接探测 λ/4 间隔晶格的周期性。我们测量了该晶格中原子的寿命,并讨论了限制这种频闪方法适用性的机制。
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引用次数: 0
'I am very glad and cheered when I hear the flute': The Treatment of Criminal Lunatics in Late Victorian Broadmoor. 当我听到笛声时,我感到非常高兴和振奋":维多利亚晚期布罗德摩尔对犯罪疯子的治疗》。
Pub Date : 2016-10-01 DOI: 10.1017/mdh.2016.56
Jade Shepherd

Through an examination of previously unseen archival records, including patients' letters, this article examines the treatment and experiences of patients in late Victorian Broadmoor Criminal Lunatic Asylum and stakes the place of this institution within the broader history of therapeutic regimes in British asylums. Two main arguments are put forth. The first relates to the evolution of treatment in Victorian asylums. Historians tend to agree that in the 1860s and 1870s 'psychiatric pessimism' took hold, as the optimism that had accompanied the growth of moral treatment, along with its promise of a cure for insanity, abated. It has hitherto been taken for granted that all asylums reflected this change. I question this assumption by showing that Broadmoor did not sit neatly within this framework. Rather, the continued emphasis on work, leisure and kindness privileged at this institution into the late Victorian period was often welcomed positively by patients and physicians alike. Second, I show that, in Broadmoor's case, moral treatment was determined not so much by the distinction between the sexes as the two different classes of patients - Queen's pleasure patients and insane convicts - in the asylum. This distinction between patients not only led to different modes of treatment within Broadmoor, but had an impact on patients' asylum experiences. The privileged access to patients' letters that the Broadmoor records provide not only offers a new perspective on the evolution of treatment in Victorian asylums, but also reveals the rarely accessible views of asylum patients and their families on asylum care.

这篇文章通过研究以前从未见过的档案记录(包括病人的信件),探讨了维多利亚晚期布罗德摩尔罪犯疯人院病人的待遇和经历,并确定了该机构在英国疯人院治疗制度的广泛历史中的地位。文章提出了两个主要论点。第一个论点与维多利亚时期疯人院治疗方法的演变有关。历史学家们普遍认为,在 19 世纪 60 年代和 70 年代,伴随着道德治疗的发展及其治愈精神失常的承诺而出现的乐观情绪逐渐消退,"精神病悲观主义 "占据了上风。迄今为止,人们想当然地认为所有精神病院都反映了这种变化。我对这一假设提出质疑,因为我发现布罗德摩并没有完全融入这一框架。相反,该精神病院在维多利亚时代晚期一直强调工作、休闲和仁慈,这往往受到病人和医生的积极欢迎。其次,我表明,在布罗德摩的案例中,道德待遇与其说是由性别差异决定的,不如说是由精神病院中的两类不同病人--女王的快乐病人和精神失常的罪犯--决定的。病人之间的这种区别不仅导致了布罗德摩尔内部不同的治疗模式,也对病人的庇护经历产生了影响。布罗德莫的记录提供了接触病人信件的特权,这不仅为维多利亚时期精神病院治疗方式的演变提供了一个新的视角,还揭示了精神病院病人及其家属对精神病院护理的罕见看法。
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引用次数: 0
The last Biochemical Education 最后一次生化教育
Pub Date : 2000-05-01 DOI: 10.1016/S0307-4412(00)00038-8
E.J Wood
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引用次数: 0
Association of biochemistry grades with performance in pharmacology and anatomy in a Saudi Arabian medical college 沙特阿拉伯医学院生物化学成绩与药理学和解剖学成绩的关系
Pub Date : 2000-05-01 DOI: 10.1016/S0307-4412(00)00009-1
Anwar Hamdi , Adel Assiri , Suleiman A. Suleiman

The College of Medicine, King Khalid University of Abha, Saudi Arabia currently accepts 100 students a year, up from 50 to 70 students four years ago. The first-year students take four science courses (Biology,Chemistry, Physics, and Statistics) in addition to some general university requirement courses. Biochemistry is offered in the second year, Anatomy in the second and third year and Pharmacology in the fourth year. This study was carried out to determine the correlation between the performance of medical students in Biochemistry and their performance in Anatomy and Pharmacology. Data were obtained from two groups of students (Group 22 and 23) of the years 1995 and 1996 who had already taken Biochemistry, Anatomy and Pharmacology. Performance was equal in Pharmacology but in biochemistry performance of group 23 was clearly lower than group 22. Scores of students in Biochemistry course strongly correlated with the basic Pharmacology course (r=0.714, P<0.0001). Scores in Anatomy also correlated with those in Biochemistry (r=0.616, P<0.001) but much less with scores in Pharmacology (r=0.345, P<0.01).

沙特阿拉伯阿卜哈国王哈立德大学医学院目前每年招收100名学生,而四年前每年招收50至70名学生。一年级的学生除了一些普通的大学必修课程外,还要修四门科学课程(生物、化学、物理和统计学)。第二年开设生物化学课程,第二年和第三年开设解剖学课程,第四年开设药理学课程。本研究旨在探讨医学生生物化学成绩与解剖学、药理学成绩的相关性。数据来自1995年和1996年两组已经修过生物化学、解剖学和药理学的学生(22组和23组)。23组的药理学性能与22组相当,但生物化学性能明显低于22组。学生生物化学课程成绩与药理学基础课程成绩呈强相关(r=0.714, P<0.0001)。解剖学的分数与生物化学的分数也有相关性(r=0.616, P<0.001),但与药理学分数的相关性要小得多(r=0.345, P<0.01)。
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引用次数: 0
Problem-oriented small-group discussion in the teaching of biochemistry laboratory practicals 问题导向的小组讨论在生物化学实验实践教学中的应用
Pub Date : 2000-05-01 DOI: 10.1016/S0307-4412(00)00025-X
Nibhriti Das, Subrata Sinha

An experiment on the use of problem-based exercises in an Indian Medical School is described. Problem-based classes were supplemented with laboratory classes and feedback from both students and tutors was analyzed.

本文描述了在印度一所医学院进行的基于问题的练习的实验。以问题为基础的课程辅以实验课,并对学生和导师的反馈进行分析。
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引用次数: 0
Peroxisomes: biochemistry, molecular biology and genetic diseases- a video programme for teaching students. 过氧化物酶体:生物化学、分子生物学和遗传疾病-教学视频节目。
Pub Date : 2000-05-01
Latruffe, Hassell

Peroxisome proliferation in rodent liver is a good biochemical marker of toxicology for several classes of xenobiotics, including fibrates; phthalates and adipates; or chlorophenoxy-acetate, a herbicide. Research in peroxisomes provides a good example of the integration of fields related to basic sciences and biomedical and industrial health. A 25min video programme illustrates techniques involved in the characterization of purified peroxisomes (Fig. 1) and membranes, immunoblotting, measurement of proliferation markers, mRNA analysis at the post-transcriptional level, DNA techniques, cell cultures as biological models and computer analysis. It is aimed at undergraduates and non-biochemist advanced students in biology.

啮齿类动物肝脏中过氧化物酶体的增殖是几种外源药物的良好毒理学生化标志物,包括贝特类;邻苯二甲酸酯和己二酸酯;或者氯苯氧乙酸,一种除草剂。对过氧化物酶体的研究是将基础科学、生物医学和工业卫生等相关领域结合起来的一个很好的例子。一个25分钟的视频节目介绍了纯化过氧化物酶体(图1)和膜的表征、免疫印迹、增殖标记物的测量、转录后水平的mRNA分析、DNA技术、作为生物模型的细胞培养和计算机分析等技术。它的目标是本科生和非生物化学高级学生在生物学。
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引用次数: 0
IUBMB workshops on education and new trends in biochemistry and molecular biology in Peru 秘鲁生物化学和分子生物学的教育和新趋势讲习班
Pub Date : 2000-05-01 DOI: 10.1016/S0307-4412(00)00028-5
Carla Gallo, Giovanni Poletti
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引用次数: 0
Carboxyfluorescein fluorescence experiments 羧基荧光素荧光实验
Pub Date : 2000-05-01 DOI: 10.1016/S0307-4412(00)00002-9
Stéphane Massou , Renaud Albigot , Michel Prats

Although fluorescence is a powerful and much used tool in Biology there are very few applications for teaching this topic in Biochemistry courses. Some classical experiments in carboxyfluorescein fluorescence are presented here, including recording a fluorescence spectrum, quenching by oxygen, effect of concentration and pH on fluorescence signal, and a Stern–Volmer representation for a dynamic quenching.

虽然荧光在生物学中是一个强大而广泛使用的工具,但在生物化学课程中很少有应用。本文介绍了羧基荧光素荧光的一些经典实验,包括荧光光谱的记录、氧猝灭、浓度和pH对荧光信号的影响以及动态猝灭的Stern-Volmer表示。
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引用次数: 0
期刊
Biochemical education
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