Congenital dyserythropoietic anemia type IV (CDAIV) is a rare inherited hematological disorder, presenting with severe anemia due to altered erythropoiesis and hemolysis, with variable needs for recurrent transfusions. We present a case of a transfusiondependent male newborn who presented at birth with severe hemolytic anemia, and required an intrauterine transfusion. Genetic testing rapidly identified a Kruppel-like factor 1 (KLF1) pathogenic variant (c.973G>A, p.E325K), known to be causative for CDAIV. This case highlights the advantages of next-generation sequencing testing for congenital hemolytic anemia: diagnostic speed, guidance on natural history, and optimized clinical management and anticipatory guidance for parents and clinicians.Additionally, we reviewed the literature for all CDAIV cases.
Congenital dyserythropoietic anemia type IV (CDAIV) is a rare inherited
hematological disorder presenting severe anemia due to altered
erythropoiesis and hemolysis, with variable needs for recurrent
transfusions. We present a case of a transfusion-dependant male newborn
who required an intrauterine transfusion and presented at birth with
severe hemolytic anemia. Genetic testing rapidly identified a KLF1 gene
mutation, a CDAIV variant. This case highlights the advantages of
next-generation sequencing testing for congenital hemolytic anemia:
diagnostic speed, guidance on natural history, and optimized clinical
management and anticipatory guidance for parents and clinicians. We
reviewed the literature for all CDAIV cases.
Background
Respiratory distress syndrome (RDS) is very common in preterm infants and multiple options are available to support their breathing in the early neonatal course. Non-invasive ventilation has become widely used given the opportunity to avoid intubation, mechanical ventilation and reduce the risk of ventilator-associated lung injury. Non-invasive ventilation includes nasal continuous positive airway pressure (NCPAP) and non-invasive positive pressure ventilation (NIPPV). NCPAP provides one constant pressure throughout the respiratory cycle. NIPPV additionally provides higher-pressure breaths (peak inspiratory pressure – PIP) over the constant baseline pressure. The use of these two modalities has previously been compared in a Cochrane systematic review to better comprehend the favoured option in preterm with RDS.
Objectives
We re-examine the risks and benefits of NIPPV versus NCPAP when implemented within the first 6 hours after birth, for preterm infants with respiratory distress in this updated Cochrane review.
Design/Methods
We used the criteria and standard methods of Cochrane and Cochrane Neonatal to conduct a comprehensive literature search for inclusion of all randomized, quasi-randomized trials and cross-over trials fitting our inclusion criteria. Primary endpoints are respiratory failure and the need for intubated ventilatory support during the first week of life. Secondary endpoints included chronic lung disease, length of stay (LOS), pneumothorax, and mortality. We analyzed the included trials using risk ratio (RR), risk difference and the number needed to treat for an additional beneficial outcome or an additional harmful outcome for dichotomous outcomes, and mean difference (MD) for continuous outcomes. We used the GRADE approach to assess the quality of evidence.
Results
In this updated systematic review, we screened 1143 studies for the title and abstract screening. 36 studies were retained for full-text review and 8 new trials were added to this update. We re-affirmed the superiority of NIPPV VS CPAP to prevent respiratory failure (risk ratio (RR) 0.62, 95% confidence interval (CI) 0.52 to 0.75), in reducing the need for intubation (risk ratio RR 0.70, CI 0.60 to 0.82), chronic lung disease (risk ratio RR 0.68, CI 0.50 to 0.92) and LOS (Mean difference -3.05 days, CI -4.92, -1.17). We did not find any difference in the mortality rate or rate of pneumothorax. For most outcomes, the certainty of evidence was graded as moderate or low.
Conclusion
NIPPV is superior to NCPAP as a primary respiratory support modality for preterm infants with RDS, in preventing respiratory failure and the need for intubation in the first week of life.
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