ABSTRACT
BACKGROUND: Newborn screening (NBS) for cystic fibrosis (CF) is a well-established public health strategy with international standards. The aim of this study was to provide an update on NBS for CF in Europe and assess performance against the standards. METHODS: Questionnaires were sent to key workers in each European country. RESULTS: In 2016, there were 17 national programmes, 4 countries with regional programmes and 25 countries not screening in Europe. All national programmes employed different protocols, with IRT-DNA the most common strategy. Five countries were not using DNA analysis. In addition, the processing and structure of programmes varied considerably. Most programmes were achieving the ECFS standards with respect to timeliness, but were less successful with respect to sensitivity and specificity. CONCLUSIONS: There has been a steady increase in national CF NBS programmes across Europe with variable strategies and outcomes that reflect the different approaches.
Subject(s)
Cystic Fibrosis/diagnosis , Neonatal Screening , Cystic Fibrosis/epidemiology , Cystic Fibrosis/genetics , Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Europe/epidemiology , Genetic Testing/methods , Health Care Surveys , Humans , Infant, Newborn , National Health Programs/standards , National Health Programs/statistics & numerical data , Neonatal Screening/methods , Neonatal Screening/standards , Program Evaluation , Reference StandardsABSTRACT
Providing the best care for patients dying from cancer of the head and neck is crucial, and their complex, unpredictable needs, particularly at the end of life, mean that they are likely to die in institutional care. To evaluate the care given at the end of life we retrospectively reviewed the case notes of patients who died between 2007 and 2012 in a regional head and neck unit and a specialist palliative care unit (hospice). Deaths were categorised as sudden (rapid or unanticipated) or expected (gradual or anticipated). A total of 105 patients died, of whom 29 were excluded from analysis because records were missing. Of the remaining 76, 63 died in the head and neck unit and 13 in the hospice. Patients who died the hospice were younger (mean (SD) age 63.7 (11.0) years) than those who died in hospital (mean (SD) age 70.6 (11.9) years). Most had stage III or IV disease (head and neck unit 45/57, 79%, hospice 9/13, 69%). Death was sudden in 33 (43%) and expected in 43 (57%). Haemorrhage was the commonest cause of sudden death (n=13) and carcinomatosis (n=17) the commonest cause of expected death. Specialists in palliative care had been involved in the care of 13 patients who died suddenly (39%) and 34 whose deaths were expected (79%). The family was present at the time of death (or was aware of it) in 30 who died suddenly (91%) and in 40 (93%) whose deaths were expected. In patients with cancer of the head and neck death can be sudden because of unpredictable complications, and everyone should be aware of this.
