Three neonatal patients with left-sided congenital diaphragmatic hernia (CDH) were evaluated with echocardiography pre- and postsurgical correction using tissue Doppler imaging (TDI). Tissue Doppler imaging parameters demonstrated improvement after surgery in both left- and right-sided myocardial performance index (MPI); furthermore, both left and right MPI correlated with clinical course in these three patients. These studies suggest that TDI measurements may be prognostic in nature in this patient population, although further studies are needed using this modality in patients with CDH to determine if it may be useful in guiding treatment and to further delineate the reasons why left ventricular function improves.
Patients who underwent CDH repair continue to have differences in RV function years after repair. Follow-up is needed to determine how these differences impact cardiac function in adult survivors of CDH.
Aims
This pilot study explored how maternal stress experienced in the neonatal intensive care unit (NICU) is affected by the individual nursing structure and the network that provides care to extremely preterm infants.
Background
Mothers experience high stress when their extremely preterm infants are hospitalized in the NICU. This often translates into maladaptive parenting behaviours that negatively affect the long‐term cognitive, social, and emotional development of the infant. Efforts to identify modifiable sources of maternal stress in the NICU could lead to improvement in maternal engagement and, ultimately, long‐term neurodevelopmental outcomes.
Method
Time‐ and date‐stamped nursing shift data were extracted from the medical record and transformed into five structural nursing metrics with resultant nurse data networks. These were then analysed for associations with maternal stress outcomes on the Parental Stressor Scale (PSS: NICU).
Results
Infants experienced highly variable nursing care and networks of nurses throughout their hospitalization. This variability is associated with the PSS: NICU (a) Sights and Sounds and (b) Altered Parental Role subscales.
Conclusion
Nursing structure and the resultant caregiving network have an impact on maternal stress.
Implications for Nursing Management
Changing the pattern of nurse staffing may be a modifiable intervention target for reducing maternal stress in the NICU.
Background
Deafness and hearing loss are common conditions that can be seen independently or as part of a syndrome and are often mediated by genetic causes. We sought to develop and validate a hereditary hearing loss panel (HHLP) to detect single nucleotide variants (SNVs), insertions and deletions (indels), and copy number variants (CNVs) in 166 genes related to nonsyndromic and syndromic hearing loss.
Methods
We developed a custom-capture next-generation sequencing (NGS) reagent to detect all coding regions, ±10 flanking bp, for the 166 genes related to nonsyndromic and syndromic hearing loss. Our validation consisted of testing 52 samples to establish accuracy, reproducibility, and analytical sensitivity. In addition to NGS, supplementary methods, including multiplex ligation-dependent probe amplification, long-range PCR, and Sanger sequencing, were used to ensure coverage of regions that had high complexity or homology.
Results
We observed 100% positive and negative percentage agreement for detection of SNVs (n = 362), small indels (1–22 bp, n = 25), and CNVs (gains, n = 8; losses, n = 17). Finally, we showed that this assay was able to detect variants with a variant allele frequency ≥20% for SNVs and indels and ≥30% to 35% for CNVs.
Conclusions
We validated an HHLP that detects SNVs, indels, and CNVs in 166 genes related to syndromic and nonsyndromic hearing loss. The results of this assay can be utilized to confirm a diagnosis of hearing loss and related syndromic disorders associated with known causal genes.
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