Precocious puberty and microbiota: The role of the sex hormone-gut microbiome axis

Puberty is a critical phase of life associated with physiological changes related to sexual maturation, and represents a complex process regulated by multiple endocrine and genetic controls. Puberty is driven by hormones, and it can impact the gut microbiome (GM). GM differences between sex emerge at puberty onset, confirming a relationship between microbiota and sex hormones. In this narrative review, we present an overview of precocious pubertal development and the changes in the GM in precocious puberty (PP) in order to consider the role of the sex hormone-gut microbiome axis from the perspective of pediatric endocrinology. Bidirectional interactions between the GM and sex hormones have been proposed in different studies. Although the evidence on the interaction between microbiota and sex hormones remains limited in pediatric patients, the evidence that GM alterations may occur in girls with central precocious puberty (CPP) represents an interesting finding for the prediction and prevention of PP. Deepening the understanding of the connection between the sex hormones and the role of microbiota changes can lead to the implementation of microbiota-targeted therapies in pubertal disorders by offering a pediatric endocrinology perspective

Characterization by length heterogeneity (LH)-PCR of a hydrogen-producing community obtained in dark fermentation using coastal lake sediment as an inoculum

n/

MicroRNA expression is associated with auditory dysfunction in workers exposed to ototoxic solvents and noise

This study is part of a project on early hearing dysfunction induced by combined exposure to volatile organic compounds (VOCs) and noise in occupational settings. In a previous study, 56 microRNAs were found differentially expressed in exposed workers compared to controls. Here, we analyze the statistical association of microRNA expression with audiometric hearing level (HL) and distortion product otoacoustic emission (DPOAE) level in that subset of differentially expressed microRNAs. The highest negative correlations were found; for HL, with miR-195-5p and miR-122-5p, and, for DPOAEs, with miR-92b-5p and miR-206. The homozygous (mut) and heterozygous (het) variants of the gene hOGG1 were found disadvantaged with respect to the wild-type (wt), as regards the risk of hearing impairment due to exposure to VOCs. An unsupervised artificial neural network (auto contractive map) was also used to detect and show, using graph analysis, the hidden connections between the explored variables. These findings may contribute to the formulation of mechanistic hypotheses about hearing damage due to co-exposure to noise and ototoxic solvents

Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study

Background and aims: We aimed to describe the limitations of familiar hypercholesterolemia (FH) diagnosis in childhood based on the presence of the typical features of FH, such as physical sings of cholesterol accumulation and personal or family history of premature cardiovascular disease or hypercholesterolemia, comparing their prevalence in the adult and paediatric FH population, and to illustrate how additional information can lead to a more effective diagnosis of FH at a younger age.Methods: From the Italian LIPIGEN cohort, we selected 1188 (>= 18 years) and 708 (<18 years) genetically-confirmed heterozygous FH, with no missing personal FH features. The prevalence of personal and familial FH features was compared between the two groups. For a sub-group of the paediatric cohort (N = 374), data about premature coronary heart disease (CHD) in second-degree family members were also included in the evaluation.Results: The lower prevalence of typical FH features in children/adolescents vs adults was confirmed: the prevalence of tendon xanthoma was 2.1% vs 13.1%, and arcus cornealis was present in 1.6% vs 11.2% of the cohorts, respectively. No children presented clinical history of premature CHD or cerebral/peripheral vascular disease compared to 8.8% and 5.6% of adults, respectively. The prevalence of premature CHD in first-degree relatives was significantly higher in adults compared to children/adolescents (38.9% vs 19.7%). In the sub-cohort analysis, a premature CHD event in parents was reported in 63 out of 374 subjects (16.8%), but the percentage increased to 54.0% extending the evaluation also to second-degree relatives.Conclusions: In children, the typical FH features are clearly less informative than in adults. A more thorough data collection, adding information about second-degree relatives, could improve the diagnosis of FH at younger age

Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations

: Background A significant proportion of individuals clinically diagnosed with familial hypercholesterolemia (FH), but without any disease-causing mutation, are likely to have polygenic hypercholesterolemia. We evaluated the distribution of a polygenic risk score, consisting of 12 low-density lipoprotein cholesterol (LDL-C)-raising variants (polygenic LDL-C risk score), in subjects with a clinical diagnosis of FH. Methods and Results Within the Lipid Transport Disorders Italian Genetic Network (LIPIGEN) study, 875 patients who were FH-mutation positive (women, 54.75%; mean age, 42.47±15.00 years) and 644 patients who were FH-mutation negative (women, 54.21%; mean age, 49.73±13.54 years) were evaluated. Patients who were FH-mutation negative had lower mean levels of pretreatment LDL-C than patients who were FH-mutation positive (217.14±55.49 versus 270.52±68.59 mg/dL, P<0.0001). The mean value (±SD) of the polygenic LDL-C risk score was 1.00 (±0.18) in patients who were FH-mutation negative and 0.94 (±0.20) in patients who were FH-mutation positive (P<0.0001). In the receiver operating characteristic analysis, the area under the curve for recognizing subjects characterized by polygenic hypercholesterolemia was 0.59 (95% CI, 0.56-0.62), with sensitivity and specificity being 78% and 36%, respectively, at 0.905 as a cutoff value. Higher mean polygenic LDL-C risk score levels were observed among patients who were FH-mutation negative having pretreatment LDL-C levels in the range of 150 to 350 mg/dL (150-249 mg/dL: 1.01 versus 0.91, P<0.0001; 250-349 mg/dL: 1.02 versus 0.95, P=0.0001). A positive correlation between polygenic LDL-C risk score and pretreatment LDL-C levels was observed among patients with FH independently of the presence of causative mutations. Conclusions This analysis confirms the role of polymorphisms in modulating LDL-C levels, even in patients with genetically confirmed FH. More data are needed to support the use of the polygenic score in routine clinical practice

Avaliação da hemodinâmica em pacientes com doença cardíaca persistente: uma revisão bibliográfica

Introdução: A avaliação da hemodinâmica em pacientes com cardiopatia persistente é um tópico complexo e multifacetado que requer uma compreensão abrangente da fisiopatologia subjacente e dos fatores de risco associados. Esta revisão bibliográfica fornece um resumo valioso da pesquisa atual no campo e destaca vários temas-chave que surgiram de estudos recentes. Metodologia: foi realizada uma revisão de literatura conduzida para investigar os aspectos clínicos, fisiológicos, patológicos e hemodinâmicos em pacientes com cardiopatia persistente. Foram realizadas buscas em várias bases de dados entre 2010 e 2022, utilizando termos específicos. Os critérios de inclusão foram estudos de coorte, estudos de caso-controle e revisões sistemáticas com amostras maiores que 10 indivíduos. Após uma triagem inicial, 33 artigos foram selecionados para análise. Os artigos foram avaliados quanto à qualidade metodológica e os dados foram agrupados e analisados qualitativamente. Os resultados foram apresentados de forma descritiva, destacando as principais informações encontradas sobre os aspectos clínicos, fisiológicos, patológicos e hemodinâmicos em pacientes cardiopatas resistentes.&nbsp; Discussão: Uma descoberta notável é que a insuficiência cardíaca crônica continua sendo um grande problema de saúde pública, com quase 5 milhões de casos relatados apenas nos EUA. Apesar dos avanços no tratamento, a taxa de mortalidade dessa condição permanece alta, enfatizando a necessidade de pesquisas contínuas sobre os mecanismos subjacentes e intervenções mais eficazes. Além disso, a revisão identifica vários fatores de risco potenciais para doença cardíaca persistente, incluindo doença renal crônica, obesidade e inflamação. Esses achados sugerem que uma abordagem multidisciplinar para o manejo da doença, incorporando intervenções médicas e de estilo de vida, pode ser mais eficaz para melhorar os resultados dos pacientes. Conclusão: No geral, esta revisão ressalta a necessidade crítica de pesquisas contínuas sobre a fisiopatologia, fatores de risco e tratamento de doenças cardíacas persistentes e fornece informações valiosas sobre possíveis caminhos para futuras investigações

Il dialogo con l'infanzia. Utopia del folklore, nonsense e comico in Gianni Rodari.

Nel trentennale dalla morte di Gianni Rodari, la tesi elabora problemi e riflessioni circa la maggiore urgenza corrente tra gli attuali studi rodariani: la necessità, per la cultura nazionale, di conferire a Gianni Rodari e alla letteratura per l’infanzia il ruolo intellettuale determinante da essi rivestito. La tesi sceglie di concentrarsi sui maggiori libri poetici e sul capolavoro teorico, la Grammatica della fantasia, utilizzando come strumenti il confronto con Gramsci, con la tradizione del folklore, con i grandi scrittori per l’infanzia dell’Inghilterra e con le altre esperienze poetiche del Novecento, discutendo Rodari da una specola esclusivamente filologica e letteraria. Parte prima: Rodari utopista. Nella prima parte Gianni Rodari viene inquadrato in un confronto diretto con l’Antonio Gramsci dei Quaderni, che aveva lucidamente individuato la separatezza tutta italiana tra classe intellettuale e mondo popolare, con conseguente inesistenza di una letteratura nazionale-popolare e di una specifica letteratura per l’infanzia. Rodari, primo intellettuale a dedicare tutto se stesso al riempimento di questa lacuna, risponde con intento sociale e politico al problema, adottando un atteggiamento che la tesi definisce utopico. Tramite una disamina del pensiero delle utopie letterarie a confronto con la tradizione popolare del paese di Cuccagna, la tesi procede all’accurato rinvenimento nell’opera di Rodari dei luoghi utopici, tutti orientati a suggerire un utilizzo dell’utopia come chiave per forzare un presente insoddisfacente e accedere a un futuro costruito da ogni individuo in prima persona. Parte seconda: Rodari poeta nonsense? Scritta in Inghilterra presso l’Istitute of Germanic and Romance Studies della University of London, la seconda e corposa parte della tesi si propone come un ampliamento della traccia gettata nel 1983 dall’articolo di Cristina Bertea Gianni Rodari in Gran Bretagna. La tesi analizza dapprima il problema del nonsense, ancora scarsamente trattato in Italia, riflettendo criticamente sulla maggiore bibliografia anglosassone che ha studiato il tema. Successivamente, mette a raffronto il lavoro linguistico che Gianni Rodari ha compiuto lungo l’arco di tutta la vita e le tecniche di composizione poetica elaborate nella Grammatica della fantasia con gli strumenti retorico-formali del nonsense individuati nell’opera di Lewis Carroll, di Edward Lear e delle nursery rhymes inglesi. Parte terza: Traccia per una mappatura della poesia per l’infanzia in Italia, a partire da Gianni Rodari. L’ultima parte della tesi si avventura alla ricerca di un percorso possibile attraverso la poesia per l’infanzia del Novecento e le sue esperienze di comicità. I capitoli si soffermano sul nonsense di Toti Scialoja e di Nico Orengo, sui precedenti di Lina Schwarz e Alfonso Gatto, sul Petel di Zanzotto, sulla poesia di soglia di Vivian Lamarque e sull’eredità della Grammatica della fantasia con particolare riferimento a Calicanto, di Ersilia Zamponi e Roberto Piumini

Application of adaptive systems methodology to radiotherapy

Brain volume differences from 58 children are analyzed to determine the degree of volume loss and the effect on IQ after undergoing radiotherapy for tumors in an effort to identify relationships that might yield knowledge in preventing brain volume loss in future treatments. Analysis of the pre- and post-treatment data is performed first using traditional statistics and then with the assistance of a new kind of artificial adaptive systems called the activation and competition system (ACS) and Auto-contractive Map (Auto-CM). While the result of the statistical study suggests that it is not possible to linearly classify the subjects into subsets of higher and lower IQ, the ACS clearly delineates the dataset into two IQ groups. Further, Auto-CM allows us to establish a semantic connection map among different brain segments which indicates a possible interpretation rule in the observed results. The effect of radiation treatment on the nine brain segments is addressed and future research directions are introduced. © 2010 IEEE

Combined bioaugmentation with anaerobic ruminal fungi and fermentative bacteria to enhance biogas production from wheat straw and mushroom spent straw

Bioaugmentation with anaerobic ruminal fungi and a pool of hydrogen-producing fermenting bacteria was tested on wheat straw (WS) and mushroom spent straw (MSS) with the aim of improving anaerobic digestion performance. Batch tests were set up to simulate a Bioaugmentation Anaerobic Digestion (BAD) treatment comparing single- (I-BAD) and two-stage (II-BAD) process configurations, at two reactor scales, 120 and 1200 ml (×10). In both cases, higher CH4 cumulative production was obtained in the II-BAD configuration on WS (65.1 ± 8.9 Nml and 922 ± 73.8 Nml respectively). The II-BADx10 tests allowed increasing CH4 production (≃290% and ≃330% on WS and MSS, respectively) when compared to the unaugmented condition. Final results highlighted the achievable advantages of the two stage configuration in terms of CH4 production enhancement. Microbial community investigations confirmed the efficiency of the bioaugmentation treatment and revealed that such a result was mainly related to the Methanosarcinales increase, mostly composed by Methanosaeta

Encoding and Simulating the Past. A Machine Learning Approach to the Archaeological Information

The encoding of the spatial-temporal archeological, historical and anthropological records can be considered an ideal-typical representation of the human reasoning and thus also an artificial membrane interposed between the researcher and the past. These membranes are here considered artificial networks and can undergo interrogation processes through the most advanced analytical tools for learning and modeling complex configurations. The aim of this paper is to synthesize recent advances in Artificial Intelligence and Computer Science and – at the same time – to support the connectionists and symbolic computational paradigms as a new epistemic frontier in the automatic annotation of tangible and intangible heritage as well in the contemporary theories and methods of the archeological thought