Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 4 de 4
Filtrar
1.
J Pediatr Gastroenterol Nutr ; 73(2): 251-258, 2021 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-33853108

RESUMEN

OBJECTIVES: Patients with paediatric inflammatory bowel disease (IBD) constitute one of the largest cohorts requiring transition from paediatric to adult services. Standardised transition care improves short and long-term patient outcomes. This study aimed to detail the current state of transition services for IBD in the United Kingdom (UK). METHODS: We performed a nationwide study to ascertain current practice, facilities and resources for children and young people with IBD. Specialist paediatric IBD centres were invited to contribute data on: timing of transition/transfer of care; transition resources available including clinics, staff and patient information; planning for future improvement. RESULTS: Twenty of 21 (95%) of invited centres responded. Over 90% of centres began the transition process below 16 years of age and all had completed transfer to adult care at 18 years of age. The proportion of patients in the transition process at individual centres varied from 10% to 50%.Joint clinics were held in every centre, with a mean of 12.9 clinics per year. Adult and paediatric gastroenterologists attended at all sites. Availability of additional team members was patchy across the UK, with dietetic, psychological and surgical attendance available in <50% centres. A structured transition tool was used in 75% of centres. Sexual health, contraception and pregnancy were discussed by <60% of teams. CONCLUSIONS: This study provides real-world clinical data on UK-wide transition services. These data can be used to develop a national strategy to complement current transition guidelines, focused on standardising services whilst allowing for local implementation.


Asunto(s)
Colitis , Enfermedades Inflamatorias del Intestino , Cuidado de Transición , Adolescente , Adulto , Niño , Femenino , Humanos , Enfermedades Inflamatorias del Intestino/terapia , Embarazo , Reino Unido
3.
Arch Dis Child ; 105(12): 1186-1191, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-32732316

RESUMEN

BACKGROUND: COVID-19 has impacted on healthcare provision. Anecdotally, investigations for children with inflammatory bowel disease (IBD) have been restricted, resulting in diagnosis with no histological confirmation and potential secondary morbidity. In this study, we detail practice across the UK to assess impact on services and document the impact of the pandemic. METHODS: For the month of April 2020, 20 tertiary paediatric IBD centres were invited to contribute data detailing: (1) diagnosis/management of suspected new patients with IBD; (2) facilities available; (3) ongoing management of IBD; and (4) direct impact of COVID-19 on patients with IBD. RESULTS: All centres contributed. Two centres retained routine endoscopy, with three unable to perform even urgent IBD endoscopy. 122 patients were diagnosed with IBD, and 53.3% (n=65) were presumed diagnoses and had not undergone endoscopy with histological confirmation. The most common induction was exclusive enteral nutrition (44.6%). No patients with a presumed rather than confirmed diagnosis were started on anti-tumour necrosis factor (TNF) therapy.Most IBD follow-up appointments were able to occur using phone/webcam or face to face. No biologics/immunomodulators were stopped. All centres were able to continue IBD surgery if required, with 14 procedures occurring across seven centres. CONCLUSIONS: Diagnostic IBD practice has been hugely impacted by COVID-19, with >50% of new diagnoses not having endoscopy. To date, therapy and review of known paediatric patients with IBD has continued. Planning and resourcing for recovery is crucial to minimise continued secondary morbidity.


Asunto(s)
COVID-19 , Servicios de Salud del Niño , Endoscopía Gastrointestinal , Accesibilidad a los Servicios de Salud , Enfermedades Inflamatorias del Intestino , Inhibidores del Factor de Necrosis Tumoral/uso terapéutico , Adolescente , Instituciones de Atención Ambulatoria/estadística & datos numéricos , Instituciones de Atención Ambulatoria/provisión & distribución , COVID-19/epidemiología , COVID-19/prevención & control , Niño , Servicios de Salud del Niño/estadística & datos numéricos , Servicios de Salud del Niño/provisión & distribución , Control de Enfermedades Transmisibles/métodos , Endoscopía Gastrointestinal/métodos , Endoscopía Gastrointestinal/estadística & datos numéricos , Nutrición Enteral/métodos , Nutrición Enteral/estadística & datos numéricos , Femenino , Encuestas de Atención de la Salud , Accesibilidad a los Servicios de Salud/normas , Accesibilidad a los Servicios de Salud/estadística & datos numéricos , Necesidades y Demandas de Servicios de Salud , Humanos , Enfermedades Inflamatorias del Intestino/diagnóstico , Enfermedades Inflamatorias del Intestino/epidemiología , Enfermedades Inflamatorias del Intestino/terapia , Masculino , SARS-CoV-2 , Reino Unido/epidemiología
4.
Inflamm Bowel Dis ; 23(12): 2109-2120, 2017 12.
Artículo en Inglés | MEDLINE | ID: mdl-28930861

RESUMEN

BACKGROUND: In contrast to adult-onset inflammatory bowel disease (IBD), where many genetic loci have been shown to be involved in complex disease etiology, early-onset IBD (eoIBD) and associated syndromes can sometimes present as monogenic conditions. As a result, the clinical phenotype and ideal disease management in these patients often differ from those in adult-onset IBD. However, due to high costs and the complexity of data analysis, high-throughput screening for genetic causes has not yet become a standard part of the diagnostic work-up of eoIBD patients. METHODS: We selected 28 genes of interest associated with monogenic IBD and performed targeted panel sequencing in 71 patients diagnosed with eoIBD or early-onset chronic diarrhea to detect causative variants. We compared these results to whole-exome sequencing (WES) data available for 25 of these patients. RESULTS: Target coverage was significantly higher in the targeted gene panel approach compared with WES, whereas the cost of the panel was considerably lower (approximately 25% of WES). Disease-causing variants affecting protein function were identified in 5 patients (7%), located in genes of the IL10 signaling pathway (3), WAS (1), and DKC1 (1). The functional effects of 8 candidate variants in 5 additional patients (7%) are under further investigation. WES did not identify additional causative mutations in 25 patients. CONCLUSIONS: Targeted gene panel sequencing is a fast and effective screening method for monogenic causes of eoIBD that should be routinely established in national referral centers.


Asunto(s)
Diarrea/etiología , Predisposición Genética a la Enfermedad , Enfermedades Inflamatorias del Intestino/genética , Edad de Inicio , Niño , Preescolar , Enfermedad Crónica , Femenino , Estudio de Asociación del Genoma Completo , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Lactante , Recién Nacido , Masculino , Mutación , Secuenciación del Exoma
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA