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1.
Br J Nurs ; 25(8): 449-55, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27126754

RESUMEN

Coeliac disease (CD) is an immune-mediated genetic condition elicited by the ingestion of gluten, leading to proximal small bowel enteropathy. It affects around 1% of the population, although only a small proportion of cases are actually diagnosed. It is a multisystem disorder presenting with both gastrointestinal and extra-intestinal manifestations such as diarrhoea, abdominal pain, constipation, vomiting, iron deficiency anaemia, faltering growth, dental enamel defects, short stature, liver disease, arthropathy and recurrent aphthous ulcers. Nurses, working in different clinical settings, are best placed for early recognition and diagnosis of CD in children. Suspicion of CD should lead to immunoglobulin A (IgA)-based anti-tissue transglutaminase antibody screening tests and a diagnosis confirmed by an intestinal biopsy. Modification of European (ESPGHAN) guidelines now enables CD to be diagnosed without a small-bowel biopsy in a select group of symptomatic children. A gluten-free diet should preferably be started by paediatric dietitians. Strict adherence to a gluten-free diet is essential to maintain good health and to prevent long-term complications. A case study demonstrating some of the challenges that may be faced in children with CD in clinical practice is described. Specialist nurse-led CD clinics are gaining popularity and have been found to be equally effective in providing continuity of quality care.


Asunto(s)
Enfermedad Celíaca/enfermería , Dieta Sin Gluten , Rol de la Enfermera , Nutricionistas , Biopsia , Enfermedad Celíaca/diagnóstico , Enfermedad Celíaca/dietoterapia , Niño , Preescolar , Diagnóstico Precoz , Intervención Médica Temprana , Proteínas de Unión al GTP/inmunología , Humanos , Intestino Delgado/patología , Pautas de la Práctica en Enfermería , Rol Profesional , Proteína Glutamina Gamma Glutamiltransferasa 2 , Medición de Riesgo , Transglutaminasas/inmunología
2.
Brain Res ; 1765: 147503, 2021 08 15.
Artículo en Inglés | MEDLINE | ID: mdl-33915162

RESUMEN

Mutations in LRRK2 are the most frequent cause of familial Parkinson's disease (PD), with common LRRK2 non-coding variants also acting as risk factors for idiopathic PD. Currently, therapeutic agents targeting LRRK2 are undergoing advanced clinical trials in humans, however, it is important to understand the wider implications of LRRK2 targeted treatments given that LRRK2 is expressed in diverse tissues including the brain, kidney and lungs. This presents challenges to treatment in terms of effects on peripheral organ functioning, thus, protein interactors of LRRK2 could be targeted in lieu to optimize therapeutic effects. Herein an in-silico analysis of LRRK2 direct interactors in brain tissue from various brain regionswas conducted along with a comparative analysis of the LRRK2 interactome in the brain, kidney, and lung tissues. This was carried out based on curated protein-protein interaction (PPI) data from protein interaction databases such as HIPPIE, human gene/protein expression databases and Gene ontology (GO) enrichment analysis using Bingo. Seven targets (MAP2K6, MATK, MAPT, PAK6, SH3GL2, CDC42EP3 and CHGB) were found to be viable objectives for LRRK2 based investigations for PD that would have minimal impact on optimal functioning within peripheral organs. Specifically, MAPT, CHGB, PAK6, and SH3GL2 interacted with LRRK2 in the brain and kidney but not in lung tissue whilst LRRK2-MAP2K6 interacted only in the cerebellum and MATK-LRRK2 interaction was absent in kidney tissues. CDC42EP3 expression levels were low in brain tissues compared to kidney/lung. The results of this computational analysis suggest new avenues for experimental investigations towards LRRK2-targeted therapeutics.


Asunto(s)
Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina/genética , Especificidad de Órganos/genética , Transcriptoma/genética , Encéfalo/citología , Encéfalo/metabolismo , Simulación por Computador , Bases de Datos Genéticas , Expresión Génica/genética , Predisposición Genética a la Enfermedad/genética , Humanos , Riñón/citología , Riñón/metabolismo , Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina/metabolismo , Pulmón/citología , Pulmón/metabolismo , Mutación/genética , Proteínas Serina-Treonina Quinasas/genética
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