Improved brain pattern recovery through ranking approaches

International audienceInferring the functional specificity of brain regions from functional Magnetic Resonance Images (fMRI) data is a challenging statistical problem. While the General Linear Model (GLM) remains the standard approach for brain mapping, supervised learning techniques (a.k.a.} decoding) have proven to be useful to capture multivariate statistical effects distributed across voxels and brain regions. Up to now, much effort has been made to improve decoding by incorporating prior knowledge in the form of a particular regularization term. In this paper we demonstrate that further improvement can be made by accounting for non-linearities using a ranking approach rather than the commonly used least-square regression. Through simulation, we compare the recovery properties of our approach to linear models commonly used in fMRI based decoding. We demonstrate the superiority of ranking with a real fMRI dataset

The relationship between obesity and quality of life in Brazilian adults

The incidence of obesity has reached epidemic proportions, affecting 30% of the adult population globally. During the last decade, the rising rates of obesity in developing countries has been particularly striking. One potential consequence of obesity is a decline in quality of life. Thus, the objective of the present study was to investigate the possible relationship between obesity, defined by body mass index (BMI), and quality of life, evaluated using the short version of the World Health Organization Quality of Life (WHOQOL) scale in a Brazilian population. The sample consisted of 30 men and 30 women, divided into three groups according to BMI: normal weight, obese, and morbidly obese. All of the subjects responded to the WHOQOL inventories. The results indicated that the groups with lower BMIs had better quality of life than the groups with higher BMIs. Being overweight interfered with quality of life equally in both sexes, with no difference found between men and women. The results indicate the necessity of multidisciplinary care of obese individuals

First and second branchial arch syndromes: multimodality approach

First and second branchial arch syndromes (BAS) manifest as combined tissue deficiencies and hypoplasias of the face, external ear, middle ear and maxillary and mandibular arches. They represent the second most common craniofacial malformation after cleft lip and palate. Extended knowledge of the embryology and anatomy of each branchial arch derivative is mandatory for the diagnosis and grading of different BAS lesions and in the follow-up of postoperative patients. In recent years, many new complex surgical approaches and procedures have been designed by maxillofacial surgeons to treat extensive maxillary, mandibular and external and internal ear deformations. The purpose of this review is to evaluate the role of different imaging modalities (orthopantomogram (OPG), lateral and posteroanterior cephalometric radiographs, CT and MRI) in the diagnosis of a wide spectrum of first and second BAS, including hemifacial microsomia, mandibulofacial dysostosis, branchio-oto-renal syndrome, Pierre Robin sequence and Nager acrofacial dysostosis. Additionally, we aim to emphasize the importance of the systematic use of a multimodality imaging approach to facilitate the precise grading of these syndromes, as well as the preoperative planning of different reconstructive surgical procedures and their follow-up during treatmen

Metacognitive Improvements Following Cognitive Stimulation Therapy for People with Dementia: Evidence from a Pilot Randomized Controlled Trial

OBJECTIVES: Impaired self-awareness is a common feature of dementia, with considerable clinical impact. Some therapeutic strategies such as cognitive stimulation and psychotherapy have been suggested to mitigate loss of awareness. Nevertheless, evidence of intervention improving awareness of deficits is scarce. The present study aims to explore the impact of a Brazilian adapted version of Cognitive Stimulation Therapy (CST-Brasil), an evidence-based psychosocial intervention for people with dementia (PwD), on the level of awareness, reporting here a secondary outcome of a pilot randomized controlled trial. METHODS: 47 people with mild to moderate dementia attending an out-patient unit were randomly allocated to CST (n = 23) or treatment as usual (TAU) (n = 24) across 7 weeks, in a pilot randomized controlled trial. Awareness was measured before and after the intervention. RESULTS: Results indicated that people in both groups increased in overall awareness of the disease, but only those receiving CST exhibited improvements of awareness of cognitive ability. CONCLUSIONS: These findings suggest that CST may also improve metacognitive abilities in PwD, which could potentially be applied to other settings with beneficial effects. CLINICAL IMPLICATIONS: Considering the negative impacts of anosognosia, CST-led improvements in awareness have the potential to benefit PwD and their caregivers

ADAR2-mediated editing of RNA substrates in the nucleolus is inhibited by C/D small nucleolar RNAs

Posttranscriptional, site-specific adenosine to inosine (A-to-I) base conversions, designated as RNA editing, play significant roles in generating diversity of gene expression. However, little is known about how and in which cellular compartments RNA editing is controlled. Interestingly, the two enzymes that catalyze RNA editing, adenosine deaminases that act on RNA (ADAR) 1 and 2, have recently been demonstrated to dynamically associate with the nucleolus. Moreover, we have identified a brain-specific small RNA, termed MBII-52, which was predicted to function as a nucleolar C/D RNA, thereby targeting an A-to-I editing site (C-site) within the 5-HT2C serotonin receptor pre-mRNA for 2′-O-methylation. Through the subcellular targeting of minigenes that contain natural editing sites, we show that ADAR2- but not ADAR1-mediated RNA editing occurs in the nucleolus. We also demonstrate that MBII-52 forms a bona fide small nucleolar ribonucleoprotein particle that specifically decreases the efficiency of RNA editing by ADAR2 at the targeted C-site. Our data are consistent with a model in which C/D small nucleolar RNA might play a role in the regulation of RNA editing

In Vivo Reinsertion of Excised Episomes by the V(D)J Recombinase: A Potential Threat to Genomic Stability

It has long been thought that signal joints, the byproducts of V(D)J recombination, are not involved in the dynamics of the rearrangement process. Evidence has now started to accumulate that this is not the case, and that signal joints play unsuspected roles in events that might compromise genomic integrity. Here we show both ex vivo and in vivo that the episomal circles excised during the normal process of receptor gene rearrangement may be reintegrated into the genome through trans-V(D)J recombination occurring between the episomal signal joint and an immunoglobulin/T-cell receptor target. We further demonstrate that cryptic recombination sites involved in T-cell acute lymphoblastic leukemia–associated chromosomal translocations constitute hotspots of insertion. Eventually, the identification of two in vivo cases associating episomal reintegration and chromosomal translocation suggests that reintegration events are linked to genomic instability. Altogether, our data suggest that V(D)J-mediated reintegration of episomal circles, an event likely eluding classical cytogenetic screenings, might represent an additional potent source of genomic instability and lymphoid cancer

Auricular Chondritis in a Postpartum Flare of SLE and APS

Introduction: Auricular chondritis has been occasionally described in patients with systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS). Materials and methods: We report the case of a woman with a previous history of APS who presented with auricular chondritis with onset of SLE symptoms during the postpartum period. Conclusion: SLE and APS should be taken into consideration in the differential diagnosis of auricular chondritis

Experiences of cognitive stimulation therapy (CST) in Brazil: a qualitative study of people with dementia and their caregivers

Objectives: There is a lack of investment in psychosocial treatments for people with dementia in Brazil. Cognitive Stimulation Therapy (CST) is a group-based intervention that has shown to have benefits on activities of daily living and mood for people with dementia in Brazil. This study aims to explore the experiences and perceived changes following CST groups. Methods: Individual interviews were conducted with the participants of the group (n = 12) and their caregivers (n = 11). Framework analysis was used to inspect the data. Results: Two main themes have emerged: ‘Personal benefits of being part of the group’, containing two subthemes: ‘Benefits for caregivers’ and ‘Benefits for person with dementia’ and ‘Day-to-day changes’, containing seven subthemes; ‘Memory’, Sociability’, ‘Language’, ‘Mood’, ‘Orientation’, ‘Everyday activities’ and ‘Behavioural and psychological symptoms’. Conclusion: Results suggest that CST groups led to perceived personal benefits for the people with dementia and caregivers and that there are perceived changes for the participants of the groups

The Oct4 homologue PouV and Nanog regulate pluripotency in chicken embryonic stem cells

International audienceEmbryonic stem cells ( ESC) have been isolated from pregastrulation mammalian embryos. The maintenance of their pluripotency and ability to self- renew has been shown to be governed by the transcription factors Oct4 ( Pou5f1) and Nanog. Oct4 appears to control cell- fate decisions of ESC in vitro and the choice between embryonic and trophectoderm cell fates in vivo. In nonmammalian vertebrates, the existence and functions of these factors are still under debate, although the identification of the zebrafish pou2 ( spg; pou5f1) and Xenopus Pou91 ( XlPou91) genes, which have important roles in maintaining uncommitted putative stem cell populations during early development, has suggested that these factors have common functions in all vertebrates. Using chicken ESC ( cESC), which display similar properties of pluripotency and long- term self- renewal to mammalian ESC, we demonstrated the existence of an avian homologue of Oct4 that we call chicken PouV ( cPouV). We established that cPouV and the chicken Nanog gene are required for the maintenance of pluripotency and self- renewal of cESC. These findings show that the mechanisms by which Oct4 and Nanog regulate pluripotency and self- renewal are not exclusive to mammal