Predictors of dementia and mortality in Down’s syndrome

Down’s syndrome (DS) is a common genetic disorder affecting around 1 in 800 live births in the human population. The syndrome was first described by Down in 1866, in which he marked a collection of symptoms observed in 10% of the children with intellectual disability1. In 1959 Lejeune, Gautier and Turpin discovered the relation between DS and the triplication of chromosome 212. The diagnosis of DS is made by chromosome analysis, which can be initiated prenatally or postnatally based on the characteristic appearance of the newborn child. Down syndrome is in 95% of the cases caused by the presence of an entire extra copy of chromosome 21. A small number, 4% of the cases, have a partial trisomy, resulting from a translocation, and the attachment of an extra long arm of chromosome 21 to chromosome 14, 21 or 22. These infrequent cases have allowed the definition of the Down Syndrome Critical Region (DSCR) of chromosome 21 within the q22 region (about 5.4Mb in length)3 that includes a subset of genes that, when present in three copies, results in the major phenotypic features of DS, including the characteristic facial appearance, congenital heart disease, and intellectual disability4. Less than 1% of the cases are caused by mosaicisme, where some, but not all cells are trisomic

Plasma levels of nitric oxide related amino acids in demented subjects with Down syndrome are related to neopterin concentrations

Subjects with Down syndrome (DS) have abnormalities in virtually all aspects of the immune system and almost all will be affected with Alzheimer's disease (AD). It is thought that nitric oxide (NO) is involved in the pathophysiology of AD. In the present study, including a total of 401 elderly DS subjects, the spectrum of plasma amino acids and neopterin was investigated and related to development of AD. Concentrations of nearly all amino acids in DS subjects differed significantly from those of healthy controls. Neopterin was increased in DS subjects, especially in dementia. The production of NO as reflected by an increased citrulline/arginine ratio (Cit/Arg ratio) was enhanced during development of clinical dementia. Neopterin concentrations correlated to the Cit/Arg ratio only in the group of prevalent demented subjects (rho = 0.48, P = 0.006). The results of this study are suggestive for an increase in oxidative processes in DS subjects with AD

The body in obsessional neuroses

The theme of this paper is the body in obsessional neurosis from two approaches lines: its peculiarities in relation to hysteria and guidance by the freudian triade - inhibiton, symptom and anxiety. Given the higher incidence of publications about hysteria and according to the emphasis traditionally given to this clinical type to the symptoms in the sphere of thought, its problematic is the place of the body in the dynamics of this neurosis, in its specificities in the relationship of the obsessive towards desire and death. The body is defined as the ground in which the dilemmas relating to sexuality and to the transience of human finitude are experienced and to outline the possibilities offered by analysis. The forms and the function of the clinical manifestations of the body in obsessional neurosis are examined based on the Freudian triad inhibition, symptom and anxiety.O presente artigo apresenta a temática do corpo na neurose obsessiva a partir de dois eixos de abordagem: suas peculiaridades em relação à histeria e a diretriz que a tríade freudiana - inibição, sintoma e angústia - fornece às discussões desse tema. Diante da maior incidência de publicações acerca da histeria e frente ao destaque tradicionalmente concedido nesse tipo clínico para os sintomas na esfera do pensamento, sua problemática é o lugar do corpo na dinâmica dessa neurose em suas especificidades na relação do obsessivo com o desejo e com a morte. Delimita-se o corpo como terreno em que são vividos os impasses relativos à sexualidade e à transitoriedade própria à finitude humana. Examinam-se as formas e a função das manifestações clínicas do corpo na neurose obsessiva com base na tríade freudiana inibição, sintoma e angústia

The value of subjective measures in training load quantification and injury incidence in intercollegiate male soccer players

The purpose of this study was to examine the value of self-report rating of perceived exertion (RPE) measures as indicators of workload and potential injury incidence. Participants were one Division I intercollegiate male soccer team (n=28) from a Midwestern institution. RPE measures, using the Borg 0-10 category ratio scale, were taken after each team-related athletic activity throughout the 2019 fall soccer season. The RPE was multiplied by minutes of training to get session RPE (sRPE). Distance covered during practice in kilometers was recorded using Polar Team Pro monitors for each participant. Injuries were recorded by the athletic training staff. Findings indicated that weekly cumulative distance in kilometers was highly correlated with weekly cumulative sRPE each of the fourteen weeks (r2 mean: 0.55 ± 0.20, r2 range: 0.15 for week 1 to 0.79 for week 5). When assessing the upper quartile of weekly aggregate sRPE scores (>2618 AU), risk ratio analysis suggested an increased risk of injury in the following week (RR=2.49, 95% CI=2.08-32.24). The findings demonstrate value of sRPE as an indicator of workload compared to objective measures in intercollegiate male soccer, but the relationship between sRPE and injury incidence is not as definitive

O que pode a psicanálise diante do adoecimento do corpo? Considerações sobre a escuta do sujeito no hospital

Diante do adoecimento, as pessoas normalmente buscam, no saber médico, respostas para suas mazelas. Sendo o hospital uma instituição de tratamento, a internação torna-se uma tentativa de contornar, por meio da ciência, o mal que se apresenta. Para algumas pessoas, o encontro com o adoecimento aparece como uma devastação, fazendo furo na rede de significações em que estas se reconheciam ao longo da vida. Podendo ser indício de um Real inapreensível na linguagem, o adoecer faz emanar sentimentos de angústia. O encontro com o analista no hospital pode ser uma possibilidade para que, diante do que vivencia, o sujeito possa encontrar uma via possível por meio da palavra. Nesse sentido, a proposta deste artigo é discutir o que pode a Psicanálise oferecer ao sujeito que se encontra diante do adoecimento de seu corpo