Background: Spontaneous intestinal perforation (SIP) is an intestinal complication that occurs in very ill preterms. We investigated whether SIP survivors have worse neurodevelopmental and gastrointestinal outcomes and a poorer quality of life than controls. Methods: A retrospective case-matched cohort study was performed involving infants treated for SIP in a NICU between August 1994 and April 2014. Controls and SIP patients were matched to gestational age, gender, and birth period. Medical records were reviewed. Telephone surveys were conducted to evaluate the medical condition, quality of life (PedsQL™ 4.0), neuropsychiatric and gastrointestinal outcome. McNemar's and Wilcoxon tests were performed, and generalized linear models were computed. Results: Forty-nine SIP patients were included. The percentages of children with multiple disabilities (40% vs. 17%, OR = 3.3) and requiring physiotherapy (86% vs. 60%, OR = 4.77) were higher in the SIP group than in the control group. Intraventricular hemorrhage (IVH) led to a worse neurodevelopmental outcome regardless of SIP (OR = 8.79 for disability), and female gender was a protective factor against disability (OR = 0.06). Reported quality of life and gastrointestinal comorbidities did not differ between the two groups. Conclusion: SIP survivors tend to be at risk of multiple disabilities. IVH and female gender influence the neurodevelopmental outcome regardless of SIP.

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Primary mitochondrial disease (PMD) is a large group of genetic disorders directly affecting mitochondrial function. Although next generation sequencing technologies have revolutionized the diagnosis of these disorders, biochemical tests remain essential and functional confirmation of the critical genetic diagnosis. While enzymological testing of the mitochondrial oxidative phosphorylation (OXPHOS) complexes remains the gold standard, oxygraphy could offer several advantages. To this end, we compared the diagnostic performance of both techniques in a cohort of 34 genetically defined PMD patient fibroblast cell lines. We observed that oxygraphy slightly outperformed enzymology for sensitivity (79 ± 17% versus 68 ± 15%, mean and 95% CI), and had a better discriminatory power, identifying 58 ± 17% versus 35 ± 17% as “very likely” for oxygraphy and enzymology, respectively. The techniques did, however, offer synergistic diagnostic prediction, as the sensitivity rose to 88 ± 11% when considered together. Similarly, the techniques offered varying defect specific information, such as the ability of enzymology to identify isolated OXPHOS deficiencies, while oxygraphy pinpointed PDHC mutations and captured POLG mutations that were otherwise missed by enzymology. In summary, oxygraphy provides useful information for the diagnosis of PMD, and should be considered in conjunction with enzymology for the diagnosis of PMD.

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