Expanding the spectrum of neonatal-onset AIFM1-associated disorders

Objectives: Pathogenic variants in AIFM1 have been associated with a wide spectrum of disorders, spanning from CMT4X to mitochondrial encephalopathy. Here we present a novel phenotype and review the existing literature on AIFM1-related disorders. Methods: We performed EEG recordings, brain MRI and MR Spectroscopy, metabolic screening, echocardiogram, clinical exome sequencing (CES) and family study. Effects of the variant were established on cultured fibroblasts from skin punch biopsy. Results: The patient presented with drug-resistant, electro-clinical, multifocal seizures 6 h after birth. Brain MRI revealed prominent brain swelling of both hemispheres and widespread signal alteration in large part of the cortex and of the thalami, with sparing of the basal nuclei. CES analysis revealed the likely pathogenic variant c.5T>C; p.(Phe2Ser) in the AIFM1 gene. The affected amino acid residue is located in the mitochondrial targeting sequence. Functional studies on cultured fibroblast showed a clear reduction in AIFM1 protein amount and defective activities of respiratory chain complexes I, III and IV. No evidence of protein mislocalization or accumulation of precursor protein was observed. Riboflavin, Coenzyme Q10 and thiamine supplementation was therefore given. At 6 months of age, the patient exhibited microcephaly but did not experience any further deterioration. He is still fed orally and there is no evidence of muscle weakness or atrophy. Interpretation: This is the first AIFM1 case associated with neonatal seizures and diffuse white matter involvement with relative sparing of basal ganglia, in the absence of clinical signs suggestive of myopathy or motor neuron disease

What About my Privacy, Habibi? Understanding Privacy Concerns and Perceptions of Users From Different Socioeconomic Groups in the Arab World

This paper contributes an in-depth understanding of privacy concerns and perceptions of Arab users. We report on the first comparison of privacy perceptions among (1) users from high socioeconomic groups in Arab countries (HSA), (2) users from medium to low socioeconomic groups in Arab countries (LSA), and (3) as a baseline, users from high socioeconomic groups in Germany (HSG). Our work is motivated by the fact that most research in privacy focused on Western, Educated, Industrialized, Rich, and Democratic (WEIRD) societies. This excludes a segment of the population whose cultural norms and socioeconomic status influence privacy perception and needs. We report on multiple novel findings and unexpected similarities and differences across the user groups. For example, shoulder surfing is more common across LSA and HSG, and defamation is a major threat in LSA. We discuss the implications of our findings on the design of privacy protection measures for investigated groups

Voices Raised, Issue 06

Included in this issue: Immaculate Mary; Grants augment women’s research; Mentoring grows; Women’s Studies take root in the neighborhood; Solution-oriented VP to retire; Muslim students strive to educate, support; Don’t let stress ruin your holidays; Dining services dishes up more than you’d expect; Marianist Images Across Campus; Confronting Disrespect: We Owe it to Each Other.https://ecommons.udayton.edu/wc_newsletter/1005/thumbnail.jp

Comparison of leaf morphology and anatomy among Malva sylvestris ("gerânio-aromático"), Pelargonium graveolens ("falsa-malva") and Pelargonium odoratissimum ("gerânio-de-cheiro")

Malva sylvestris é comumente confundida com Pelargonium graveolens e Pelargonium odoratissimum devido às semelhanças na morfologia foliar. As folhas de M. sylvestris possuem antocianinas com propriedades citotóxicas, antiinflamatória, antitumoral e antioxidante já comprovadas cientificamente. As folhas de P. odoratissimum apresentam óleo essencial com propriedades antibacteriana e espasmolítica, e o óleo essencial da folha de P. graveolens possui atividade antimicrobiana e antifúngica. O objetivo deste estudo foi analisar morfo-anatomicamente as folhas destas espécies, apontando diferenças que possam ser utilizadas para esclarecer controvérsias na sua utilização como planta medicinal. Com a finalidade de se comparar anatomicamente a estrutura de cada planta, as amostras foram observadas por Microscopia de Luz e Microscopia Eletrônica de Varredura (MEV). A anatomia foliar entre as espécies foi bem distinta. Malva sylvestris apresentou tricomas do tipo capitado, estrelado e tector, além de drusas e células mucilaginosas. A distinção entre P. graveolens e P. odoratissimum foi observada em relação aos tricomas. Ambas as espécies apresentaram tricomas glandulares e tectores, sendo que P. graveolens se diferencia pela maior altura dos tricomas tectores e menor quantidade destes em relação ao P. odoratissimum. Este trabalho permitiu constatar diferenças anatômicas, auxiliando na taxonomia e classificação entre estas espécies.Malva sylvestris is generally confused with Pelargonium graveolens and Pelargonium odoratissimum due to similarities in their leaf morphology. The leaves of M. sylvestris have anthocyanins with scientifically proven cytotoxic, anti-inflammatory, antitumor and antioxidant properties. The leaves of P. odoratissimum have essential oil with antibacterial and spasmolytic properties, while the essential oil from P. graveolens has antimicrobial and antifungal activity. The aim of this study was to morpho-anatomically analyze the leaves of these species, indicating differences that can be used to clarify controversies about their use as medicinal plants. To anatomically compare the structure of each plant, samples were observed by Light Microscopy and Scanning Electron Microscopy (SEM). Leaf anatomy among species was quite different. Malva sylvestris showed capitate starry tector trichomes, as well as druses and mucilaginous cells. P. graveolens and P. odoratissimum differed as to trichomes. Both species had tector and glandular trichomes, and P. graveolens is distinguished for the greater height of tector trichomes and less quantity of the latter relative to P. odoratissimum. This study allowed the detection of anatomical differences, assisting in the taxonomy and classification of these species.Universidade Estadual PaulistaUniversidade Estadual Paulist

Applicazioni di analisi statistica di dati testuali

Pubblicazione di lavori selezionati della giornata di studio su "Applicazioni di analisi statistica di dati testuali", che testimoniano il passaggio della statistica linguistica alla statistica testuale.Il volume presenta una panoramica dei campi di applicazione del settore e una indagine sulla comunità degli studiosi di questo ambito. Una vasta bibliografia ne documenta i tipi di lavori