Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch.

We report a case of an infant with congenital diaphragmatic hernia (CDH) and hydrops fetalis who died from hypoxic respiratory failure. Autopsy revealed type B interrupted aortic arch (IAA). Microarray revealed a female karyotype with deletion of chromosome 1p21.1p12. There may be an association between 1p microdeletion, CDH, and IAA.

Cardiac function and its evolution with pulmonary vasodilator therapy: a myocardial deformation study.

Speckle tracking echocardiography-derived myocardial strain has useful clinical applications in adults with pulmonary hypertension (PH) as well as preterm infants with chronic lung disease. It is considered more sensitive compared to conventional indices. This report presents a 3-month-old infant with PH and poor right ventricular function who was treated with inhaled nitric oxide. Myocardial strain was noted to be impaired with paradoxical segmental strain. Impairment in strain improved after inhaled nitric therapy. Strain analysis can help improve understanding of cardiac adaptation in critical clinical situations.

Restrictive versus liberal red blood cell transfusion thresholds in very low birth weight infants: a systematic review and meta-analysis.

AIM: A systematic review was conducted to examine the effects of restrictive versus liberal red blood cell (RBC) transfusion thresholds on clinically important outcomes in very low birth weight (VLBW) infants. METHODS: Randomised controlled trials (RCTs) of varying RBC transfusion thresholds in VLBW infants were identified by searching MEDLINE, EMBASE, CINAHL, all of the Cochrane Library and other supplementary sources. Selected studies included one of the following outcomes: total number of red blood cell transfusions, donor exposure rate, cranial ultrasonographically diagnosed brain injury, retinopathy of prematurity, bronchopulmonary dysplasia, necrotising enterocolitis or death. Studies to be included were selected by two reviewers who also assessed the risk of bias of each trial. Data extraction and analyses were independently performed by two reviewers. All data were analysed using RevMan 5. RESULTS: Six RCTs were identified. One trial did not meet the inclusion criteria, while two had inadequate methodological quality. Pooled analysis of two trials showed that the restrictive transfusion group received a significantly lower mean number of transfusions per infant (mean difference (MD) -1.35, 95% confidence interval (CI) [-2.61, -0.09]) and donor exposure rate (MD -0.54, 95% CI [-0.93, -0.15]). No other statistically significant differences were observed. CONCLUSION: Restrictive RBC transfusion thresholds in VLBW infants may be utilised without incurring clinically important increases in the risk of death or major short-term neonatal morbidities.