What is cystic fibrosis screen positive inconclusive diagnosis? And what is it not?

Since screening for cystic fibrosis (CF) was incorporated into the newborn screening program, the number of recognised variants in the CF transmembrane conductance regulator (CFTR) gene has significantly increased. This has led to the discovery of combinations of gene variants with an uncertain prognosis. One outcome is the designation of 'cystic fibrosis screen positive inconclusive diagnosis' (CFSPID). While the majority of these children are expected to be unaffected by their CFTR variants, a small proportion have been seen to develop symptoms or increasing sweat chloride levels over time, which may reflect dysfunction of the CFTR protein.As the number of children with CFSPID increases, paediatricians and those working in primary care are more likely to encounter them in their practice. It is important that professionals have an understanding of CFSPID: what it is and, importantly, what it is not (ie, they do not have CF). In this article, we hope to explore this using some example cases, illustrating the ways in which these children may present symptomatically and how to manage them.

Early mobilization of mechanically ventilated ICU patients in Saudi Arabia: Results of an ICU-wide national survey.

BACKGROUND: Improved outcomes for patients on mechanical ventilation may be achieved with early mobilization (EM). However, it is not clear how widely this strategy is adopted into routine intensive care unit (ICU) practice in Saudi Arabia. OBJECTIVES: This study was conducted to describe the present practices and challenges to providing EM for mechanically ventilated patients, which may drive dissemination and implementation activities. METHODS: We approached 205 ICUs across Saudi Arabia using a validated tool to assess ICU characteristics, the practices of EM for mechanically ventilated patients, and the barriers to providing EM. RESULTS: We approached 205 ICU persons in charge and achieved a 65% response rate (133 ICUs). The prevalence of EM for mechanically ventilated patients was 47% (63 ICUs). A total of 85 (64%) of the respondents reported having no previous training in EM. The absence of a written protocol was reported by 55% of the ICU practitioners in charge, 36% started EM within 2 to 5 days of critical illness, and 35% reported that performing EM for mechanically ventilated patients was totally dependent on physicians' orders. Forty-seven percent of the ICUs that practised EM had at least one coordinator or person in charge of facilitating EM. The highest level of EM with mechanically ventilated patients was 35/63 (55%) with patients remaining in-bed and 28/63 (45%) with patient getting out of bed. A majority of the respondents (39, 64%) performed EM once daily for an interval period of more than 15 min. Previous training in EM and years of experience of the ICU person in charge were significant factors that promoted EM for mechanically ventilated ICU patients (OR: 7.6 (3.37-17.26); p < 0.001 and OR: 1.07 (1.01-1.14), p = 0.004, respectively). Existing protocols increased the odds of starting EM within 2 to 5 days of critical illness by six-fold (OR: 6.03 (1.79-20.30); p = 0.004). No written guidelines/protocols available for EM, medical instability, and limited staff were the most common hospital-, patient- and health care provider-related barriers to EM in the ICUs, respectively. CONCLUSION: The prevalence of EM for mechanically ventilated patients across Saudi Arabia was 47%, although only 36% of the ICU staff had previous training in EM. Targeting modifiable barriers to EM, including a lack of training, guidelines and protocols, and staffing, will help to promote EM in Saudi Arabian ICUs.