{"title":"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.","authors":"Han Peng Zhou, Hiromasa Sawamura, Natsuko Nakamura, Akiko Yamagami, Ryoma Yasumoto, Kyoko Kasai, Ryo Obata, Makoto Aihara","doi":"10.1080/01658107.2023.2231077","DOIUrl":"10.1080/01658107.2023.2231077","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":80258,"journal":{"name":"Biochemical education","volume":"15 1","pages":"285-290"},"PeriodicalIF":0.8,"publicationDate":"2023-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10732632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75367003","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Biochemical educationPub Date : 2021-03-25eCollection Date: 2021-01-01DOI: 10.5114/cipp.2021.104595
Magdalena Linke-Jankowska, Konrad S Jankowski
{"title":"Social and physical anhedonia in relation to grandiose and vulnerable narcissism.","authors":"Magdalena Linke-Jankowska, Konrad S Jankowski","doi":"10.5114/cipp.2021.104595","DOIUrl":"10.5114/cipp.2021.104595","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Participants and procedure: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":80258,"journal":{"name":"Biochemical education","volume":"26 1","pages":"46-52"},"PeriodicalIF":1.0,"publicationDate":"2021-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10663716/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78560608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
T-C Tsui, Y Wang, S Subhankar, J V Porto, S L Rolston
{"title":"Realization of a stroboscopic optical lattice for cold atoms with subwavelength spacing.","authors":"T-C Tsui, Y Wang, S Subhankar, J V Porto, S L Rolston","doi":"10.1103/physreva.101.041603","DOIUrl":"10.1103/physreva.101.041603","url":null,"abstract":"<p><p>Optical lattices are typically created via the ac Stark shift and are limited by diffraction to periodicities ⩾ <i>λ</i>/2, where <i>λ</i> 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 <i>λ</i>/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 <i>λ</i>/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.</p>","PeriodicalId":80258,"journal":{"name":"Biochemical education","volume":"20 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9074761/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75377182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"'I am very glad and cheered when I hear the flute': The Treatment of Criminal Lunatics in Late Victorian Broadmoor.","authors":"Jade Shepherd","doi":"10.1017/mdh.2016.56","DOIUrl":"10.1017/mdh.2016.56","url":null,"abstract":"<p><p>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. </p>","PeriodicalId":80258,"journal":{"name":"Biochemical education","volume":"20 1","pages":"473-91"},"PeriodicalIF":0.0,"publicationDate":"2016-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5058406/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75377128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Association of biochemistry grades with performance in pharmacology and anatomy in a Saudi Arabian medical college","authors":"Anwar Hamdi , Adel Assiri , Suleiman A. Suleiman","doi":"10.1016/S0307-4412(00)00009-1","DOIUrl":"https://doi.org/10.1016/S0307-4412(00)00009-1","url":null,"abstract":"<div><p>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 (<em>r</em>=0.714, <em>P</em><0.0001). Scores in Anatomy also correlated with those in Biochemistry (<em>r</em>=0.616, <em>P</em><0.001) but much less with scores in Pharmacology (<em>r</em>=0.345, <em>P</em><0.01).</p></div>","PeriodicalId":80258,"journal":{"name":"Biochemical education","volume":"28 3","pages":"Pages 134-135"},"PeriodicalIF":0.0,"publicationDate":"2000-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0307-4412(00)00009-1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91977644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Problem-oriented small-group discussion in the teaching of biochemistry laboratory practicals","authors":"Nibhriti Das, Subrata Sinha","doi":"10.1016/S0307-4412(00)00025-X","DOIUrl":"https://doi.org/10.1016/S0307-4412(00)00025-X","url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":80258,"journal":{"name":"Biochemical education","volume":"28 3","pages":"Pages 154-155"},"PeriodicalIF":0.0,"publicationDate":"2000-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0307-4412(00)00025-X","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136453767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Peroxisomes: biochemistry, molecular biology and genetic diseases- a video programme for teaching students.","authors":"Latruffe, Hassell","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":80258,"journal":{"name":"Biochemical education","volume":"28 3","pages":"136-138"},"PeriodicalIF":0.0,"publicationDate":"2000-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21721796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"IUBMB workshops on education and new trends in biochemistry and molecular biology in Peru","authors":"Carla Gallo, Giovanni Poletti","doi":"10.1016/S0307-4412(00)00028-5","DOIUrl":"10.1016/S0307-4412(00)00028-5","url":null,"abstract":"","PeriodicalId":80258,"journal":{"name":"Biochemical education","volume":"28 3","pages":"Pages 141-142"},"PeriodicalIF":0.0,"publicationDate":"2000-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0307-4412(00)00028-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"56596312","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Carboxyfluorescein fluorescence experiments","authors":"Stéphane Massou , Renaud Albigot , Michel Prats","doi":"10.1016/S0307-4412(00)00002-9","DOIUrl":"https://doi.org/10.1016/S0307-4412(00)00002-9","url":null,"abstract":"<div><p><span>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, </span>quenching by oxygen, effect of concentration and pH on fluorescence signal, and a Stern–Volmer representation for a dynamic quenching.</p></div>","PeriodicalId":80258,"journal":{"name":"Biochemical education","volume":"28 3","pages":"Pages 171-173"},"PeriodicalIF":0.0,"publicationDate":"2000-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0307-4412(00)00002-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136521741","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}