Hierarchical clustering heat map representing increases (red) and decreases (red) in intensity of peaks significantly different in mild <i>vs</i> severe patients.

<p>Peak masses are represented in the vertical axis, and individuals in the horizontal axis. Data were log-transformed, obtained after clustering of peaks (vertical axis) and individuals (horizontal axis), analyzed by the Ward Agglomeration Algorithm, and filtered for mild <i>vs</i> severe patients comparison. The green trace delimits the data corresponding to the cluster of individuals that show consistent changes in lipid content.</p

Box plots corresponding to four peaks differentially displayed.

<p>Two sphingomyelin (m/z 489.3 and 725.5, upper panels) and two phosphatidylcholine (m/z 782.6 and 810.6, lower panels) species are represented. Relative intensity corresponds to the area of each peak of the spectrum related to the total ion count. Box plots are constructed from log-transformed relative intensity data.</p

Hierarchical clustering heat map representing increases (red) and decreases (blue) in intensity of peaks significantly different in healthy <i>vs</i> CF patients.

<p>Peak masses are represented in the vertical axis, and individuals in the horizontal axis. Data were log-transformed, obtained after clustering of peaks (vertical axis) and individuals (horizontal axis), analyzed by the Ward Agglomeration Algorithm, and filtered for healthy <i>vs</i> CF patients comparison. The green trace delimits the data corresponding to the cluster of individuals that show consistent changes in lipid content.</p

Peaks differentially displayed in either healthy controls <i>vs</i> CF patients (*) or in CF mild <i>vs</i> CF severe patients (**) with p<0.05 after T-test analysis.

<p>All peaks are [M+H]⁺ except 489.27 and 725.53, which correspond to [M+Na]⁺. # Theoretical identity (not confirmed by MSⁿ).</p

Clinical data of CF patients (n.i.: not identified; n.d.: not determined).

<p>Clinical data of CF patients (n.i.: not identified; n.d.: not determined).</p

Peaks differentially displayed in either healthy healthy <i>vs</i> CF patients (a) or in CF mild <i>vs</i> CF severe patients (b) with p<0.05 after log transformation and ANOVA analysis.

<p>All [M+H]⁺ except 449.33 and 489.27, which correspond to [M+K]⁺ and [M+Na]+ respectively. #Theoretical identity (not confirmed by MSⁿ).</p

Flow diagram describing the experimental procedures.

<p>Flow diagram describing the experimental procedures.</p

Cystic fibrosis cases missed by newborn bloodspot screening—towards a consistent definition and data acquisition

Repeated European surveys of newborn bloodspot screening (NBS) have shown varied strategies for collecting missed cases, and information on data collection differs among countries/regions, hampering data comparison. The ECFS Neonatal Screening Working Group defined missed cases by NBS as either false negatives, protocol-related, concerning analytical issues, or non-protocol-related, concerning pre- and post-analytical issues. A questionnaire has been designed and sent to all key workers identified in each NBS programme to assess the feasibility of collecting data on missed cases, the stage of the NBS programme when the system failed, and individual patient data on each missed case.</p