Search results for "Disability"

AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.

2020

5-Amino-4-imidazolecarboxamide-ribosiduria (AICA)-ribosiduria is an exceedingly rare autosomal recessive condition resulting from the disruption of the bifunctional purine biosynthesis protein PURH (ATIC), which catalyzes the last two steps of de novo purine synthesis. It is characterized biochemically by the accumulation of AICA-riboside in urine. AICA-ribosiduria had been reported in only one individual, 15 years ago. In this article, we report three novel cases of AICA-ribosiduria from two independent families, with two novel pathogenic variants in ATIC. We also provide a clinical update on the first patient. Based on the phenotypic features shared by these four patients, we define AICA-…

Autistic Adult Health and Professional Perceptions of It: Evidence From the ASDEU Project

2021

The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated the knowledge and health service experiences of users and providers to generate new hypotheses and scientific investigations that would contribute to improvement in health care for autistic adults. An online survey designed for autistic adults, carers of autistic adults, and professionals in adult services was translated into 11 languages and distributed electronically by organizations and in-country adult service facilities in 2017; 522 autistic adults, 442 carers, and 113 professionals provided answers to the health questions. Professionals, the majority in non-medical services, appeared to be poorly informed …

Neuropsychological functioning in child sexual abusers: A systematic review

2020

Abstract Impairments in neuropsychological functioning are emphasized among the core components in etiological models about sexual offending against children. In order to distinguish those neuropsychological deficits that can specifically be found in child sexual abusers, the present systematic review summarizes all studies published between 1980 and 2019 comparing neuropsychological functions of child sexual abusers with different control groups. The databases PubMed, Google scholar, and PsycInfo were used to find relevant studies. After applying certain inclusion criteria (e.g., at least one comparison group), 25 studies were identified as being relevant for the present review. Most evide…

Under the umbrella

2017

The inclusion of Internet Gaming Disorder as a preliminary diagnosis subsumed in Section III of the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) has provoked mixed reactions. On the one hand, it has been appreciated as an important sign stressing the negative health-related impact of that disorder. Likewise, the definition of diagnostic criteria helps scientists and clinicians to refer to mandatory indicators associated with a health problem. On the other hand, it has been objected that this new diagnosis bears the danger of pathologizing normal behaviors that are a feature of healthy recreational activity for many people. However, the existence of diag…

Parodiando la frustración de la superwoman: Liz Lemon en el entorno laboral de Rockefeller Plaza

2014

El personaje protagonista de la ya finalizada sitcom Rockefeller Plaza (30 Rock, NBC, 2006-2013), Liz Lemon, puede definirse como la caricatura de un modelo de mujer que se siente fracasada por su incapacidad de “tenerlo todo”, esa utopía conciliadora impuesta al género femenino casi desde su incorporación al mundo del trabajo. Liz es la jefa de guionistas de un programa de sketches humorísticos en directo de relativo éxito, un puesto de gran exigencia que trata de compaginar con una inexistente vida no laboral. Así, muchos de los gags recurrentes de la serie proceden de insistir en los desastrosos resultados de su torpeza a la hora de conciliar estas dos áreas de su caótica vida diaria, de…

Host-directed therapies for COVID-19

2021

Purpose of review Severe acute respiratory syndrome coronavirus-2-induced hyperinflammation is a major cause of death or end-organ dysfunction in COVID-19 patients. We review adjunct host-directed therapies (HDTs) for COVID-19 management. Recent findings The use of umbilical cord-derived mesenchymal stem cells as HDT for COVID-19 has been shown to be safe in phase 1 and 2 trials. Trials of anti-interleukin-6 receptor antibodies show promising mortality benefit in hospitalized COVID-19 patients. Repurposed drugs and monoclonal antibodies targeting specific cytokines acting on different aspects of the pro- and anti-inflammatory cascades are under evaluation. Summary A range of HDTs shows prom…

X-LINKED INTELLECTUAL DISABILITY

2013

The intellectual disability is found in approximately 2-3% of the population in a mild-to-moderate form and 0.5-1% in a moderate-to-severe form. The mutations on the chromosome X are responsible for both syndromic and non-syndromic intellectual disability. In the syndromic forms behavioral disorders, autism and/or seizures are frequent.

A rare unbalanced translocation 1;18 in a child with epilepsy, mild dysmorphology and mental retardation

2012

Post-Secular Identity? Developing a New Approach to Religion in International Relations and IR Studies

2021

In spite of the increasing presence of religion in international relations with various publications observing this presence and numerous authorities calling for the inclusion of religion into mainstream research, there is no universal consent to recognize religion’s role in IR. In our opinion, the only way to reconcile IR with the international reality in which religion has been and will remain present in the foreseeable future is for the researchers themselves to construct—especially those oriented towards broad, non-Western perspective—a new face of the discipline, the face which in this article we call the post-secular identity of IR study. Assuming that identity is first and foremost a…

Selection and evaluation of Internet information by adults with intellectual disabilities

2018

Internet offers people with intellectual disabilities (ID) unique opportunities to access information and to participate in society. But concerns have been raised about the potential risks they face when accessing the Internet (e.g. giving credit to false information, being exposed to manipulative content). As part of the current debate between positive risk-taking and overprotection, our study empirically tested the extent to which 43 adults with ID identified and selected topically relevant as well as trustworthy web pages while searching the Internet for several topics (e.g. Can social networks use your pictures for advertisement?). Participants also justified their search decisions. Res…