History of Eugenics in Otorhinolaryngology: Ernst Rudin and the International Eugenics Network
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ABSTRACT:
SUBMITTER: Suwa B
PROVIDER: S-EPMC11008944 | biostudies-literature | 2024 Jan
REPOSITORIES: biostudies-literature
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Project description:I was invited to write this essay on the occasion of my selection as the recipient of the 2012 Bruce Alberts Award for Excellence in Science Education from the American Society for Cell Biology (ASCB). Receiving this award is an enormous honor. When I read the email announcement for the first time, it was more than a surprise to me, it was unbelievable. I joined ASCB in 1996, when I presented a poster and received a travel award. Since then, I have attended almost every ASCB meeting. I will try to use this essay to share with readers one of the best experiences in my life. Because this is an essay, I take the liberty of mixing some of my thoughts with data in a way that it not usual in scientific writing. I hope that this sacrifice of the format will achieve the goal of conveying what I have learned over the past 20 yr, during which time a group of colleagues and friends created a nexus of knowledge and wisdom. We have worked together to build a network capable of sharing and inspiring science all over the world.
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Project description:Inherited mutations of calcium ion channels exhibit neurological defects, such as epilepsy, ataxia, and migraine, and these phenotypes are shared among humans and mouse models. Absence epilepsy and ataxic phenotypes are present in the calcium channelopathy mutants stargazer (stg-gamma2 subunit), tottering (tg-alpha1 subunit), and lethargic (lh-beta4 subunit). These mutations of high-voltage-activated (HVA) calcium channel subunits initiate increases in membrane excitability of low-voltage-activated (LVA) calcium channels in thalamic neurons, thus enhancing LVA currents. Elevated LVA currents, produced from T-type calcium channels, induce rhythmic thalamocortical burst firing and spike-wave seizures. The changes in gene expression originating from the different mutations result in similar T-type channel function; however, the network of gene modifications causing altered molecular plasticity and the emergence of pathological phenotypes remain unknown. We would like to understand how loss of 3 different subunits of a calcium ion channel differentially alter gene expression in the brain. Characterizing the gene expression profiles of the mutant stg, tg, and lh mice will provide evidence of the epileptic and ataxic mechanisms, which may identify potential therapeutic targets. We will compare the gene expression profiles among adult mutant stg, tg, and lh mice, which display the ataxic and epileptic phenotypes, along with their wildtype, litter-mate controls, in the cerebellum and brain (without cerebellum). We propose that the neuronal dysfunction associated with the ataxic and epileptic phenotypes develops from a common network of interacting gene alterations within the mutant stg, tg, and lh brain. The changes dictated by the initial mutations leading to the ataxic and epileptic phenotypes are hypothesized to be localized to the cerebellum and the remaining areas of the brain, including the thalamus and cortex, respectively. Adult mutant stg, tg, and lh mice, between 2 and 5 months of age, along with wildtype, litter-mate controls, will be sacrificed. Two brain regions responsible for two phenotypes will be examined. The cerebellum (ataxia) will be dissected from remainder of the forebrain (generalized epilepsy). Each tissue set will be collected in triplicate (3 separate mice per set) to account for biological variance, and total RNA isolated via standard Trizol procedure (Invitrogen) and purified with the RNeasy cleanup kit (Qiagen). RNA samples will be stored at -80 C until sent for analysis using the Affymetrix GeneChip Mouse Genome 430 2.0 whole genome array. Keywords: other
2006-11-14 | GSE6275 | GEO
Project description:Face transplants have attracted global media and public attention since the 1990s. The first recipient, Isabelle Dinoire, found herself at the centre of a dramatic episode of surgical innovation after her transplant was announced in November 2005. Subsequently 47 transplants have been conducted worldwide (including two retransplants) up to August 2020, and these have been accompanied by extensive news coverage. Hundreds of papers on the medical, physical, psychological, and ethical implications of the procedure have been published in the scientific literature, disproportionate to the incidence of the procedure. Face transplants have also featured in films, television, and fiction, indicating an appetite for interrogating the social and interpersonal implications of facial difference. However, the history of facial transplantation has largely been unexplored. This article provides the first international history of the global development and implementation of facial transplantation. Using published medical literature, media coverage, and oral history interviews with key participants as source material, it situates the experimental transplant in national, institutional, and professional contexts. It argues that charting the history of face transplants over a 30 year period from initial discussions in 1991 to the present provides a valuable case study through which to consider surgical cultures and discourses of medical innovation in the twenty-first century.
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Project description:Plasminogen deficiency is an ultra-rare multisystem disorder characterized by the development of fibrin-rich pseudomembranes on mucous membranes. Ligneous conjunctivitis, which can result in vision impairment or loss, is the most frequent symptom reported. Affected systems may also include the respiratory tract, oropharynx, female reproductive tract, gingiva, middle ear, renal collecting system, skin and central nervous system. Untreated, plasminogen deficiency may result in significant reduction in quality of life and morbidity with potential life-threatening complications. Non-specific therapies are inadequate and plasminogen concentrates are not commercially available. The current understanding of plasminogen deficiency and management of disease symptoms and its progression are based on case reports/series and two small clinical trials. To date there has never been a comprehensive, international study to examine the natural history or optimal therapeutic intervention; knowledge gaps include identification of contributing factors and triggers of disease manifestations, inability to predict disease course, and insufficient real-world data for use of therapeutics. We have created an international, observational study (HISTORY) in a large cohort of persons with plasminogen deficiency and first-degree family members to address these gaps and to advance knowledge and care. HISTORY will build upon the established relationship between the Indiana Hemophilia and Thrombosis Center and the Fondazione Angelo Bianchi Bonomi, IRCCS Ca' Granda Ospedale Maggiore Policlinico - University of Milan and will utilize a modified version of the Prospective Rare Bleeding Disorders Database (PRO-RBDD). A biorepository containing samples from subjects with plasminogen deficiency will be established. This article describes the rationale behind the study and efforts towards its goals.
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Project description:(1) Background: Psychometric network analysis provides a novel statistical approach allowing researchers to model clusters of related symptoms as a dynamic system. This study applied network analysis to investigate the patterns of somatic, cognitive, and affective neurobehavioral symptoms in an international sample of Spanish-speaking individuals with a history of COVID-19 positivity and non-COVID controls; (2) methods: the sample (n = 1093) included 650 adults from 26 countries who reported having previously tested positive for COVID-19 (COVID+) through a viral and/or antigen test (average of 147 days since diagnosis). The control group (COVID-) was comprised of 443 adults from 20 countries who had completed the survey prior to the COVID-19 pandemic; (3) results: relative to the COVID- network, the COVID+ network was very well-connected, such that each neurobehavioral symptom was positively connected to the network. The organize-to-headache and dizzy-to-balance connections in the COVID+ network were stronger than in the COVID- network. The hearing, numbness, and tense symptoms were more central to the COVID+ network with the latter connected to the sleep, fatigue, and frustrated symptoms. The COVID- network was largely disjointed, with most of the somatosensory symptoms forming their own cluster with no connections to other symptom groups and fatigue not being connected to any other symptom. The cognitive and affective symptoms in the COVID- network were also largely connected to symptoms from within their own groups; (4) conclusions: These findings suggest that many of the long-term neurobehavioral symptoms of COVID-19 form a discernable network and that headaches, frustration, hearing problems, forgetfulness, and tension are the most central symptoms. Cognitive and behavioral rehabilitation strategies targeting these central symptom network features may hold promise to help fracture the lingering symptom network of COVID-19.
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Project description:Regeneration as a therapeutic priniciple and regenerative medicine in general are promising new strategies to add new therapeutic dimensions to our current treatment options. Today, reconstructive surgery, drugs and implants such as the cochlear implant can replace the functions of damaged tissues. In contrast, regenerative therapies aim at the replacement of the damaged tissues themselves while at the same time replacing their lost tissue function. In this review article new technologies such as 3D-bioprinting and the application of decellularised tissues as biomaterials are introduced and explained. A summary of current preclinical and clinical regenerative studies in otorhinolaryngology is complementing these basic aspects.
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Project description:ObjectivesBecause X-linked myotubular myopathy (XLMTM) is a rare neuromuscular disease caused by mutations in the MTM1 gene with a large phenotypic heterogeneity, to ensure clinical trial readiness, it was mandatory to better quantify disease burden and determine best outcome measures.MethodsWe designed an international prospective and longitudinal natural history study in patients with XLMTM and assessed muscle strength and motor and respiratory functions over the first year of follow-up. The humoral immunity against adeno-associated virus serotype 8 was also monitored.ResultsForty-five male patients aged 3.5 months to 56.8 years were enrolled between May 2014 and May 2017. Thirteen patients had a mild phenotype (no ventilation support), 7 had an intermediate phenotype (ventilation support less than 12 hours a day), and 25 had a severe phenotype (ventilation support 12 or more hours a day). Most strength and motor function assessments could be performed even in very weak patients. Motor Function Measure 32 total score, grip and pinch strengths, and forced vital capacity, forced expiratory volume in the first second of exhalation, and peak cough flow measures discriminated the 3 groups of patients. Disease history revealed motor milestone loss in several patients. Longitudinal data on 37 patients showed that the Motor Function Measure 32 total score significantly decreased by 2%. Of the 38 patients evaluated, anti-adeno-associated virus type 8 neutralizing activity was detected in 26% with 2 patients having an inhibitory titer >1:10.ConclusionsOur data confirm that XLMTM is slowly progressive for male survivors regardless of their phenotype and provide outcome validation and natural history data that can support clinical development in this population.Clinicaltrialsgov identifierNCT02057705.
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