ABSTRACT
There is a lack of psychometrically validated tools to evaluate the extent to which people with intellectual disability (ID) truly exercise their rights in all areas of their lives. The aim of this article is to provide evidence about the usefulness and reliability of the pilot version of the #Rights4MeToo Scale, an instrument based on the Quality of Life Supports Model. The scale can be self-reported by people with ID or hetero-reported by family members or professionals. First, through a qualitative study with self-advocates with ID, we provide evidence about the need and usefulness of this tool to understand and monitor compliance with the Convention on Rights of Persons with Disabilities (CRPD). Next, we present preliminary data on the internal consistency of the items that make up the pilot version, analyzing the responses of 1,200 people with ID, family members, and professionals. The #Rights4MeToo Scale will make it possible to conduct national studies on compliance with the CRPD, not to mention international comparative studies when the scale is adapted to the legal and cultural context of other countries. (AU)
Resulta urgente e ineludible contar con herramientas, con adecuadas evidencias de validez y fiabilidad, que permitan evaluar hasta qué punto las personas con discapacidad intelectual (DI) verdaderamente ejercen sus derechos en todos los ámbitos de su vida. El objetivo de este artículo consiste en proporcionar evidencias acerca de la utilidad y la fiabilidad de la versión preliminar de la escala #YoTambién Tengo Derechos, un instrumento diseñado a partir del Modelo de Calidad de Vida y Apoyos. La escala puede ser autoinformada por personas con DI o heteroinformada por familiares o profesionales. Por un lado, mediante un estudio cualitativo con autogestores con DI se proporcionan evidencias acerca de la necesidad y la utilidad de esta herramienta para conocer y monitorizar el cumplimiento de la Convención. Por otro lado, presentamos datos preliminares de la consistencia interna de los ítems, analizando las respuestas de 1.200 personas con DI, familiares y profesionales. La escala #YoTambién Tengo Derechos permitirá llevar a cabo estudios nacionales sobre el cumplimiento de la Convención sobre los Derechos de las Personas con Discapacidad y, con su adaptación al contexto legal y cultural de otros países, estudios comparativos internacionales. (AU)
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Persons with Mental Disabilities/legislation & jurisprudence , Handicapped Advocacy , Intellectual Disability , Quality of Life , Reproducibility of ResultsABSTRACT
A new synthetic route for the quorum sensing signal Autoinducer-2 (AI-2) is described and used for the preparation of [4-13C]-AI-2 starting from [1-13C]-bromoacetic acid. The key step in this process was the enantioselective reduction of an intermediate ketone. This synthesis provides, selectively, both enantiomers of the labelled or unlabelled parent compound, (R) or (S)-4,5-dihydroxypentane-2,3-dione (DPD) and was used for an improved synthesis of [1-13C]-AI-2.
Subject(s)
Homoserine/analogs & derivatives , Lactones/chemical synthesis , Lactones/pharmacology , Optical Phenomena , Quorum Sensing , Cyclization , Homoserine/chemical synthesis , Homoserine/pharmacology , Quorum Sensing/drug effectsABSTRACT
BACKGROUND: Corneal Dystrophy and Perceptive Deafness (CDPD) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive sensorineural hearing loss, which usually begins after the second decades of life. This study reports the ophthalmic, audiological and genetic features, in five CDPD affected patients from three Chilean families. MATERIALS AND METHODS: Five individuals affected with CDPD from three unrelated Chilean families were clinically and genetically examined. To evaluate a putative founder mutation 7 SNPs were analyzed in the three families, an Argentinian patient (carrier of the same mutation previously reported) and 87 Chilean controls. RESULTS: The ophthalmic symptoms in the five patients were bilateral and symmetric, starting before one year of age, and visual acuity varied from 0.1 to 0.3. In all cases, hearing loss began over 8 years old. The sequence of the 19 exons of SLC4A11 gene of all the affected patients exhibited homozygous eight nucleotide sequence duplication (c.2233_2240dup TATGACAC, p.(Ile748Metfs*5)) at the end of exon 16. All the affected patients of the three families were homozygous for a haplotype composed of five SNPs and covering 4,1 Mb. The same haplotype was present in one allele of the heterozygous Argentinean patient and has a frequency of 2.76% in Chilean population. CONCLUSIONS: The five CDPD patients were homozygous for the same mutation in the SLC4A11 gene. Haplotype analysis of all the affected, including the case reported from Argentina was in accordance with a founder mutation.
Subject(s)
Anion Transport Proteins/genetics , Antiporters/genetics , Corneal Dystrophies, Hereditary/diagnosis , Corneal Dystrophies, Hereditary/genetics , Founder Effect , Gene Duplication/genetics , Hearing Loss, Sensorineural/diagnosis , Hearing Loss, Sensorineural/genetics , Polymorphism, Single Nucleotide , Adolescent , Adult , Aged , Audiometry , Base Pairing , Child , Consanguinity , DNA Mutational Analysis , Exons/genetics , Female , Haplotypes , Heterozygote , Homozygote , Humans , Male , Pedigree , Visual Acuity/physiology , Young AdultABSTRACT
En este artículo analizamos de manera crítica la Convención sobre los derechos de las personas con discapacidad. Una visión más realista puede ser llevada a cabo cuando se aplica a personas con enfermedad mental. Dos situaciones clínicas serán revisadas a la luz de la Convención: el consentimiento informado y las decisiones por representación. Bajo esta interpretación se propone que la aplicación de la Convención en salud mental respetará satisfactoriamente los derechos humanos de las personas con discapacidad.
In this article, we critically analyze the Convention on the Rights of Persons with Disabilities. A realistic view should be taken into account when the text is applied in persons with mental illness. Two clinical situations will be revised in light of the Convention: informed consent and substitute decision-making. This interpretation states that the application of the Convention in Mental Health will respect satisfactory human rights of persons with disability.
Neste artigo analisamos criticamente a Convenção sobre os direitos das pessoas com deficiência. Uma visão mais realista pode ser feita quando se aplica a pessoas com doença mental. Duas situações clínicas serão revistas à luz da Convenção: o consentimento informado e decisões pela representação. Sob esta interpretação, propõe-se que a implementação da Convenção em Saúde mental respeitará satisfatoriamente os direitos humanos das pessoas com deficiência.
Subject(s)
Humans , Disabled Persons , Decision Making , Involuntary Treatment/ethics , Human Rights , Informed Consent , Mentally Ill PersonsABSTRACT
sfection could promote the expression of integrin α3β1/α6β1. The mechanism of regulating integrin α3β1/α6β1 may lie in allosterism of an extracellullar CDI51 site (QRD194-196) and C -terminal Ves. transportation target motif(YRSL245-248).
