Evidence for the multiple hits genetic theory for inherited language impairment: a case study

Communication disorders have complex genetic origins, with constellations of relevant gene markers that vary across individuals. Some genetic variants are present in healthy individuals as well as those affected by developmental disorders. Growing evidence suggests that some variants may increase susceptibility to these disorders in the presence of other pathogenic gene mutations. In the current study, we describe eight children with specific language impairment and four of these children had a copy number variant in one of these potential susceptibility regions on chromosome 15. Three of these four children also had variants in other genes previously associated with language impairment. Our data support the theory that 15q11.2 is a susceptibility region for developmental disorders, specifically language impairment.University of Nebraska. Health Research ConsortiumBarkley Memorial Trus

Aby Warburg: His Aims and Methods

In this issue of Engramma: Giulia Zanon’s "Zooming Mnemosyne" deals with the use of details in Warburg’s Bilderatlas, Monica Centanni’s "Collateral effects of the “visibile parlare” (Dante, Pg. X, v. 95)" reconstructs the hypothesis of a visual model for the legend of Trajan’s Justice, according to Warburg intuition about it; this contribution is connected of the paper by Filippo Perfetti’s "Dante, Botticelli, and Trajan. An Open Note" where the author investigates how Botticelli could have come to know that the bas-relief of the Arch of Constantine liberatori urbis was related to an episode in Trajan's life”. The focus of this issue is then extended to Warburg's cultural environment. Matilde Sergio’s "Aby Warburg, Walter Benjaming, and the Memory of Images" investigates the influence of Warburg's essay about Luther, on Benjamin's thought, while Dorothee Gelhard’s "Gertrud Bing’s Scientific Beginnings" reconstructs the intellectual history of Bing's doctoral thesis and its influences on Warburgian work. The theme of Warburg’s Denkraum is the focal point of Salvatore Settis’ "Anselm Kiefer's Logic of Inversion": a fundamental overview of Kiefer's Questi scritti, quando verranno bruciati, daranno finalmente un po’ di luce (Andrea Emo) on display at Sala dello Scrutinio in Palazzo Ducale, Venezia from March to October 2022. The third section of the issue is dedicated to new publications and exhibitions. Echoing Settis’ reflection on Denkraum, we present Clio Nicastro’s "La Dialettica del Denkraum in Aby Warburg", published this year for Palermo University Press; an introduction to "Cultural Memories": a series published by Peter Lang and edited by Katia Pizzi. Giacomo Calandra di Roccolino with "Mary Hertz Warburg: Free and Unconventional" reviews the exhibition of the artist Mary Hertz Warburg. The issue closes with the important "Choral Reading of "Il metodo di Aby Warburg" by Kurt W. Forster. L’antico dei gesti. Il futuro della memoria", where Barbara Baert, Victoria Cirlot, Georges Didi-Huberman, Michael Diers, Andrea Pinotti and Ianick Takaes offer us their personal reading of Warburg’s life and thought as they are presented by Forster’s newly translated book, edited by Ronzani editore

Gut microbiome of the Hadza hunter-gatherers

Human gut microbiota directly influences health and provides an extra means of adaptive potential to different lifestyles. To explore variation in gut microbiota and to understand how these bacteria may have co-evolved with humans, here we investigate the phylogenetic diversity and metabolite production of the gut microbiota from a community of human hunter-gatherers, the Hadza of Tanzania. We show that the Hadza have higher levels of microbial richness and biodiversity than Italian urban controls. Further comparisons with two rural farming African groups illustrate other features unique to Hadza that can be linked to a foraging lifestyle. These include absence of Bifidobacterium and differences in microbial composition between the sexes that probably reflect sexual division of labour. Furthermore, enrichment in Prevotella, Treponema and unclassified Bacteroidetes, as well as a peculiar arrangement of Clostridiales taxa, may enhance the Hadza’s ability to digest and extract valuable nutrition from fibrous plant foods

Phonological and lexical influences on phonological awareness in children with specific language impairment and dyslexia

Children with dyslexia and/or specific language impairment have marked deficits in phonological processing, putting them at an increased risk for reading deficits. The current study sought to examine the influence of word-level phonological and lexical characteristics on phonological awareness. Children with dyslexia and/or specific language impairment were tested using a phoneme deletion task in which stimuli differed orthogonally by sound similarity and neighborhood density. Phonological and lexical factors influenced performance differently across groups. Children with dyslexia appeared to have a more immature and aberrant pattern of phonological and lexical influence (e.g., favoring sparse and similar features). Children with SLI performed less well than children who were typically developing, but followed a similar pattern of performance (e.g., favoring dense and dissimilar features). Collectively, our results point to both quantitative and qualitative differences in lexical organization and phonological representations in children with SLI and in children with dyslexia

Context-dependent Neural Responses to Minor Notes in Frontal and Temporal Regions Distinguish Musicians from Nonmusicians

Musical training is required for individuals to correctly label musical modes using the terms “major” and “minor,” whereas no training is required to label these modes as “happy” or “sad.” Despite the high accuracy of nonmusicians in happy/sad labeling,previous research suggests that these individuals may exhibit differences in the neural response to the critical note—the note (the third of the relevant key) that defines a melody as major or minor. The current study replicates the presence of a late positive component (LPC) to the minor melody in musicians only. Importantly, we also extend this finding to examine additional neural correlates of critical notes in a melody. Although there was no evidence of an LPC response to a second occurrence of the critical note in either group, there was a strong early right anterior negativity response in the inferior frontal gyrus in musicians in response to the first critical note in the minor mode. This response was sufficient to classify participants based on their musical training group. Furthermore, there were no differences in prefrontal asymmetry in the alpha or beta bands during the critical notes. These findings support the hypothesis thatmusical training may enhance the neural response to the information content of critical note in a minor scale but not the neural response to the emotional content of a melody

The relationship between thyroid disorders and vitamin A. A narrative minireview

: The terms "vitamin A" and "retinoids" encompass a group of fat-soluble compounds essential for human nutrition. Some of them (retinol, retinal, 9-cis-retinoic acid, tretinoin, and 13-cis-retinoic acid) are fully natural, while others are synthetic compounds used mostly for therapeutic purposes. Some evidence indicates that the nutritional status of these retinoids (i.e., the presence or absence of deficiency) is able to modulate thyroid gland metabolism. Vitamin A deficiency is tightly correlated with structural and functional impairment of the thyroid gland and is often associated with iodine deficiency. Furthermore, retinoids are involved in different immune functions, as well as in the process of activation, proliferation, and differentiation of regulatory T cells (Treg). This is particularly significant given the high prevalence of thyroid autoimmune disorders, whose pathogenesis seems to be related to the altered homeostasis of regulatory T cells. Retinoids are also involved in the modulation of gene expression via their interaction with nuclear receptors, and they also act as cofactors in cell growth and differentiation. The ability of retinoic acid to increase iodine uptake and sodium-iodine symporter activity in human thyroid cancer cell lines suggests that some retinoids and their derivatives may be of use in the treatment of different thyroid tumors. This minireview summarizes the current knowledge on the link between nutritional intake of vitamin A and various thyroid disorders

Figli di Marte 2022 : Immagini in guerra

Since its first issues, Engramma has come to terms with images in war. In 2001, after the attack on the Twin Towers; in 2015, an issue dedicated to the abecedaries of Aby Warburg, Bertolt Brecht, and Ernst Jünger; at the end of 2015, an issue on the martyrdom of Palmyra, dedicated to the archaeologist Khaled Al Asaad. But already since 2008 Engramma has hosted various contributions and devoted several monographic issues to the protection of cultural heritage, wartime destruction and post-war reconstruction. March 2022 – and it is war time again. The first section of this special issue is dedicated to James Hillman and his reflections on Ares and the "terrible love of war". The third section collects interviews and interventions by Italian intellectuals who speak with voices that are dissonant with the stadium choirs that pollute the senses and dull critical intelligence: Nadia Fusini, Luciano Canfora, Lorenzo Braccesi, Moni Ovadia, Massimo Cacciari, and Salvatore Settis. At the heart of this issue of Engramma, you can find an Image Gallery, edited by Seminario Mnemosyne in six chapters: I. Enlisting Icons; II. Pornographic Romanticism; III. The Crusade of the Children; IV. "Still Dead"; V. In hoc signo; VI. Despite everything, Images

Seeking optimization of LT4 treatment in patients with differentiated thyroid cancer

: Levothyroxine sodium (LT4) is the mainstay treatment to replace thyroid hormonal production in thyroidectomized patients, but, depending on the aggressiveness of the cancer and on the risk of recurrence, patients with differentiated thyroid cancer may also be treated in a TSH-suppressive or semi-suppressive mode. The pathophysiological rationale for this LT4 treatment stems from the role of TSH, considered to be a growth factor for follicular cells, potentially inducing initiation or progression of follicular cell-derived thyroid cancer. Therefore, accurate tailoring of treatment, taking into account both patient characteristics (age and comorbidities) and risk of persistent/recurrent disease, is highly recommended. Furthermore, adjustments to traditional LT4 treatment should be made in thyroidectomized patients due to the lack of thyroidal contribution to whole body triiodothyronine (T3) concentration. Since LT4 exhibits a narrow therapeutic index and the side effects of over- and under-treatment could be deleterious, particularly in this category of patients, caution is required in dose individualization, in the mode of ingestion, and in potential pharmacological and other types of interference as well. Our aim was to analyze the current knowledge concerning LT4 dose requirements in patients with thyroid cancer according to different therapeutic approaches, taking into account a number of factors causing interference with LT4 efficacy. Specific mention is also made about the use of the novel LT4 formulations