1,614 research outputs found

    Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage

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    Huntington's disease (HD) is an incurable, autosomal dominant, hereditary neurodegenerative disorder that typically manifests itself in midlife. This pathology is linked to the deregulation of multiple, as yet unknown, cellular processes starting before HD onset. A human iPS cell line was generated from skin fibroblasts of a subject at the presymptomatic life stage, carrying a polyglutamine expansion in HTT gene codifying Huntingtin protein. The iPSC line contained the expected CAG expansion, expressed the expected pluripotency markers, displayed in vivo differentiation potential to the three germ layers and had a normal karyotype

    Similarities and differences in the functional architecture of mother-infant communication in rhesus macaque and British mother-infant dyads

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    Similarly to humans, rhesus macaques engage in mother-infant face-to-face interactions. However, no previous studies have described the naturally occurring structure and development of mother-infant interactions in this population and used a comparative-developmental perspective to directly compare them to the ones reported in humans. Here, we investigate the development of infant communication, and maternal responsiveness in the two groups. We video-recorded mother-infant interactions in both groups in naturalistic settings and analysed them with the same micro-analytic coding scheme. Results show that infant social expressiveness and maternal responsiveness are similarly structured in humans and macaques. Both human and macaque mothers use specific mirroring responses to specific infant social behaviours (modified mirroring to communicative signals, enriched mirroring to affiliative gestures). However, important differences were identified in the development of infant social expressiveness, and in forms of maternal responsiveness, with vocal responses and marking behaviours being predominantly human. Results indicate a common functional architecture of mother-infant communication in humans and monkeys, and contribute to theories concerning the evolution of specific traits of human behaviour

    Molecular phenotyping and biomarker development: Are we on our way towards targeted therapy for severe asthma?

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    Although different phenotypes of severe asthma can be identified, all are characterized by common symptoms. Due to their heterogeneity, they exhibit differences in pathogenesis, etiology and clinical responses to therapeutic approaches. The identification of distinct molecular phenotypes to define severe asthmatic patients will allow us to better understand the pathophysiology of the disease and thus to more precisely target the treatment for each patient. To achieve this goal, a systematic search for new, reliable and stable biomarkers specific for each phenotype is essential. This review focuses on the current known molecular phenotypes of severe asthma and highlights the need for biomarkers that could (either alone or in combination) be predictive of the treatment outcome

    Reabilitação de paciente infantil com múltiplos dentes natais e oligodontia na dentição permanente

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    The objective of the present article is to report an uncommon case of a boy with history of 11 natal lost teeth, all belonging to the normal series of primary dentition, associated with absence of up to 21 permanent tooth germs. Such a condition resulted in the necessity for oral rehabilitation. Partial removable prostheses were used as a choice of treatment, and the patient will have to be constantly followed up so that new treatment approaches can be performed according to the patient’s development.O objetivo do presente artigo é reportar um caso incomum de um paciente infantil com história de 11 dentes natais extraídos, todos da série normal da dentição decídua, além de ausência de 21 germes da dentição permanente. Essa condição tornou necessária a reabilitação protética deste paciente. O tratamento de escolha foi a utilização de próteses parciais removíveis, e o paciente terá que ser constantemente acompanhado para que, conforme seu crescimento, novas alternativas de tratamento sejam utilizadas

    Design and Validation of an Open-Hardware Print-Head for Bioprinting Application

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    In the last decades drop-on-demand inkjet technology played an increasing role in industrial and medical applications. This is due to the ability to deposit a small amount of material in precisely defined position. In the field of Biofabrication, inkjet printers are used to build 2D and 3D scaffolds and gels with biological molecules, including living cells. Several works, including seminal papers on inkjet bioprinting, were carried out with modified office printers. These printers have fixed structural characteristics and operating size, especially on the print-head, limiting the range of materials that can be dispensed. The aim of the present work is the design and fabrication of an open-source piezoelectric inkjet print-head, optimized for the bioprinting field. This low-cost, reproducible, reliable, versatile and biocompatible device will enable various research laboratories to work with a shared device; the open source allowing for parts to be modified to suit specific needs. The design was carried out by Finite Element (FE) modelling of the piezoelectric, mechanical, fluid dynamics and their coupling. The design was optimized for shear rate, which we minimized in order to be able to print cells. The mechanical frame of the printer was designed and built using a low-cost 3D printer. The nozzle plate was fabricated from a polycarbonate disc coated with biocompatible silicone, to increase the hydrophobicity of the outer surface of the disc, preventing ink adhesion on the edge of the nozzle; the refilling system, and the electronic control were also part of the project and will be freely available to download. The FE models were validated with ad-hoc experiments, printing water, gelatin solution, and cell culture media, by modulating the wave power in amplitude, frequency and duty cycle. The tests showed a large working window both respect to viscosity and to surface tension. Finally Human Skin Fibroblasts (ATCC-CRL- 2522, Teddington UK), suspended in culture media, were printed. Cell viability, assessed by CellTiter-Blue and LIVE / DEAD tests, resulted comparable with the control, demonstrating the validity of the first open source piezoelectric inkjet print-head for biofabrication

    Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith–Magenis syndrome

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    Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, behavioural problems and circadian rhythm dysregulation. About 90% of SMS cases are due to a 17p11.2 deletion containing retinoic acid induced1 (RAI1) gene, 10% are due to heterozygousmutations affecting RAI1 coding region. Little is known about RAI1 role

    An update on intimate partner violence and mental health

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    INTRODUCTIONː Intimate partner violence (IPV) is a problem worldwide and a human rights issue. The present paper summarizes recent literature on the relationship between IPV and mental health, exploring risk factors for psychiatric patients to be victims and/or perpetrators of violent behavior in intimate relationships. EVIDENCE ACQUISITION: A search of PubMed, PsychINFO and Cochrane Library databases was performed, looking for papers concerning IPV and psychiatry published between 2011 and 2016. Papers were retrieved and reviewed according to PRISMA statement guidelines. Only research papers with sample sizes >50 adult subjects were included, leading to a first selection of 1486 records. Titles and abstracts were independently screened by three pairs of researchers, following predefined criteria agreed by the authors, yielding 93 articles for review. EVIDENCE SYNTHESIS: Mental disorders, especially posttraumatic stress disorder (PTSD) and depression, are associated with risk for perpetrating IPV. Confounding factors of this association are substance use/dependence, childhood adversity, previous IPV perpetration. Psychiatric patients are at high risk of becoming victims of IPV, but specific risk factors for victimization in this population have been poorly investigated. Rates of PTSD, depression, anxiety and substance use disorders are higher among IPV victims than in the general population. Interpersonal variables and social factors play a key role both in the onset and in the recovery from mental disorders in the aftermath of IPV. CONCLUSIONS: Individuals suffering from a mental disorder are prone to be both victims and perpetrators of IPV. Further research efforts are needed to elucidate the risk factors for victimization, in order to devise effective risk management strategies
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