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A New Allelic Variant in the PANK2 Gene in a Patient with Incomplete HARP Syndrome
Myriam Ley Martos,María Jesús Salado Reyes,Rosario Marín Iglesias,Carmen Gutiérrez Moro,Manuel Lubián Gutiérrez,Lorena Estepa Pedregosa 대한파킨슨병및이상운동질환학회 2020 Journal Of Movement Disorders Vol.13 No.3
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disease characterized by iron deposition in the basal ganglia, primarily in the globus pallidus and substantia nigra. Common clinical manifestations include dystonia, parkinsonism, spasticity, neuropsychiatric disorders and retinal degeneration. PKAN is included in the spectrum of disorders related to neurodegeneration with brain iron accumulation (NBIA), which includes eleven diseases.
Insights into Systems for Iron-Sulfur Cluster Biosynthesis in Acidophilic Microorganisms
Myriam Pérez,Braulio Paillavil,Javiera Rivera-Araya,Claudia Muñoz-Villagrán,Omar Orellana,Renato Chávez,Gloria Levicán 한국미생물·생명공학회 2022 Journal of microbiology and biotechnology Vol.32 No.9
Fe-S clusters are versatile and essential cofactors that participate in multiple and fundamental biological processes. In Escherichia coli, the biogenesis of these cofactors requires either the housekeeping Isc pathway, or the stress-induced Suf pathway which plays a general role under conditions of oxidative stress or iron limitation. In the present work, the Fe-S cluster assembly Isc and Suf systems of acidophilic Bacteria and Archaea, which thrive in highly oxidative environments, were studied. This analysis revealed that acidophilic microorganisms have a complete set of genes encoding for a single system (either Suf or Isc). In acidophilic Proteobacteria and Nitrospirae, a complete set of isc genes (iscRSUAX-hscBA-fdx), but not genes coding for the Suf system, was detected. The activity of the Isc system was studied in Leptospirillum sp. CF-1 (Nitrospirae). RT-PCR experiments showed that eight candidate genes were co-transcribed and conform the isc operon in this strain. Additionally, RT-qPCR assays showed that the expression of the iscS gene was significantly up-regulated in cells exposed to oxidative stress imposed by 260 mM Fe2(SO4)3 for 1 h or iron starvation for 3 h. The activity of cysteine desulfurase (IscS) in CF-1 cell extracts was also upregulated under such conditions. Thus, the Isc system from Leptospirillum sp. CF-1 seems to play an active role in stressful environments. These results contribute to a better understanding of the distribution and role of Fe-S cluster protein biogenesis systems in organisms that thrive in extreme environmental conditions.
Myriam El Khoury Malhame,Dunia Harajli,Rafal Ohme,Dorota Reykowska,Malgorzata Jakubowska 글로벌지식마케팅경영학회 2023 Global Marketing Conference Vol.2023 No.07
Mental distress has been consistently reported to be highly prevalent after collective traumas, alongside physical and personal damages. When left untreated, these will worsen survivors’ ability to function. Research also points to unmet needs, related to job security and a sense of belonging. Our study aims to identify a clustered-dimensional approach to people’s experiences after a massive urban violence apart from traditional categorical psychopathological assessments. This cross-sectional internet-based study included 1305 Lebanese adults, 4 months after the apocalyptic Beirut Port explosion. Emotions, attitudes and needs were assessed using iCode software, measuring explicit answers and implicit reaction time. First and foremost, explicit responses revealed alarming levels of distress (75-80%). Latent class analysis further differentiated three groups on seven different dimensions derived from principal component analysis. People who experienced the most intense emotional distress and intrusive thoughts had higher country dissatisfaction and job worries. Faith and community resilience buffered the negative emotionality of those affected in spite of avoidance and intrusion. The last group was less distressed by the trauma with a marked sense of community and an overall reduced country and job dissatisfactions. These findings suggest that integrating implicit responses helps cluster people’s experiences after a collective trauma above and beyond single demographic criteria as vulnerability to mass violence is quite variable within seemingly homogenous samples. They also provide insight onto hard-wired attitudes and needs post-trauma. It mostly taps into multi-factorial individual vulnerabilities and protective factors to better refine targeted interventions for at-risk subpopulation outreach and foster resilience in unstable environments.
La transmission à l’heure du brouillage des âges et des générations: Visite en terrain publicitaire
Agnès Pecolo,Myriam Bahuaud 고려대학교 응용문화연구소 2014 에피스테메 Vol.0 No.12
Sermonizer children, Head of family’s teenagers, the advertisement products regularly failing adults and by that a weak transmission. The “kidult” together with the adult childish, the one of the “juvenile senior” or also the one of “tweens” which call for the redefinition of the childhood outlines, are all indicators of a muddle of ages, of life cycle and of the implementing generation in our contemporary societies and which the advertising exploites with pleasure. They question a society soaked of cult of youth, nostalgic and depressed. In this contribution, we concentrate on the way the advertisement in the years 2000, by the mean of classical models of generational differentiation and other more contemporary, plays with this confusion of borders and participates to the social construction of life ages.