Carmen Carvalho

Failure of early nasal continuous positive airway pressure in preterm infants of 26 to 30 weeks gestation

Objective:To identify variables associated with early nasal continuous positive airway pressure (ENCPAP) failure in preterm neonates less than 30 weeks gestational age.Study Design:Multicenter prospective study including 131 preterm newborns, over a period of 2 years. Patients and respiratory variables were assessed using univariate analysis.Result:Variables associated with ENCPAP failure were: the need of resuscitation with a FiO2>0.30; a CPAP pressure of 6.4±1.2 cm H2O; the need of a FiO2 of 0.40 in the first 4 h of life; male gender maintaining the need of a FiO2>0.25 in the first 4 h of life; and respiratory distress syndrome with criteria for surfactant administration.Conclusion:The need for oxygen in resuscitation and maintained in first hours of life, male gender, a CPAP pressure over 5 cm H2O and surfactant need are predictors of ENCPAP failure in preterm neonates 26 to 30 weeks gestational age.

Cord blood levels of IL-6, IL-8 and IL-10 may be early predictors of bronchopulmonary dysplasia in preterm newborns small for gestational age

Introduction: Various cytokines have been associated to the occurrence of bronchopulmonary dysplasia (BPD) in preterm neonates. AIM: To establish an association between cord blood cytokines and BPD, so that they could be used, in clinical practice, as early markers of BPD. Material and methods: Preterms less than 30 weeks gestational age, were analysed by ELISA microassay for venous cord blood IL-1β, IL-6, IL-8, TNF-α and IL-10, and compared between the BPD and non-BPD groups. Results: One hundred and fifty neonates completed the study; 31 (21%) small for gestational age (SGA); 16 were deceased before 28 days of life; 36 developed mild BPD and 20 developed moderate/severe BPD. Elevated cord blood IL-8 was associated with death or moderate/severe BPD. SGA patients with moderate/severe BPD presented higher cord blood values of IL-8, lower IL-6 and IL-10 when compared with SGA without moderate/severe BPD; and higher IL-8 levels when compared with patients without moderate/severe BPD. Conclusion: These results support an association between cord blood IL-8 and moderate/severe BPD, independently of the intra-uterine growth; and the association of cord blood IL-6 and IL-10 and moderate/severe BPD in SGA preterm newborns.

Euclid: superluminous supernovae in the Deep Survey

Context. In the last decade, astronomers have found a new type of supernova called ‘superluminous supernovae’ (SLSNe) due to their high peak luminosity and long light-curves. These hydrogen-free explosions (SLSNe-I) can be seen to z ∼ 4 and therefore, offer the possibility of probing the distant Universe. Aims. We aim to investigate the possibility of detecting SLSNe-I using ESA’s Euclid satellite, scheduled for launch in 2020. In particular, we study the Euclid Deep Survey (EDS) which will provide a unique combination of area, depth and cadence over the mission. Methods. We estimated the redshift distribution of Euclid SLSNe-I using the latest information on their rates and spectral energy distribution, as well as known Euclid instrument and survey parameters, including the cadence and depth of the EDS. To estimate the uncertainties, we calculated their distribution with two different set-ups, namely optimistic and pessimistic, adopting different star formation densities and rates. We also applied a standardization method to the peak magnitudes to create a simulated Hubble diagram to explore possible cosmological constraints. Results. We show that Euclid should detect approximately 140 high-quality SLSNe-I to z ∼ 3.5 over the first five years of the mission (with an additional 70 if we lower our photometric classification criteria). This sample could revolutionize the study of SLSNe-I at z > 1 and open up their use as probes of star-formation rates, galaxy populations, the interstellar and intergalactic medium. In addition, a sample of such SLSNe-I could improve constraints on a time-dependent dark energy equation-of-state, namely w(a), when combined with local SLSNe-I and the expected SN Ia sample from the Dark Energy Survey. Conclusions. We show that Euclid will observe hundreds of SLSNe-I for free. These luminous transients will be in the Euclid data-stream and we should prepare now to identify them as they offer a new probe of the high-redshift Universe for both astrophysics and cosmology.

Congenital disorders of glycosylation with neonatal presentation

Congenital disorders of glycosylation (CDG) are a group of hereditary diseases characterised by deficiency of enzymes involved in proteins glycosylation. We describe the clinical case of a neonate with CDG type 1a, nowadays designated phosphomannomutase 2 (PMM2)-CDG. Physical examination showed an abnormal facies, axial hypotonia, abnormal fat distribution, inverted nipples, non-palpable testicles and arachnodactyly. Progressive multiple system organ involvement and worsening of hypertrophic cardiomyopathy occurred. Metabolic study revealed a CDG disturbance, which was confirmed by genetic study. The following mutations were identified: c.193G>T; p.D65Y and c.470T>C; p.F157S. Clinical deterioration was inevitable with multisystemic failure and death. CDG represents a challenge for physicians due to multiple organ involvement, and heterogeneous clinical manifestations. The neonatal form is usually associated with the worst prognosis.

A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant.

Noonan syndrome is a relatively common and heterogeneous genetic disorder, associated with congenital heart defect in about 50% of the cases. If the defect is not severe, life expectancy is normal. We report a case of Noonan syndrome in a preterm infant with hypertrophic cardiomyopathy and lethal outcome associated to acute respiratory distress syndrome caused by Adenovirus pneumonia. A novel mutation in the RAF1 gene was identified: c.782C>G (p.Pro261Arg) in heterozygosity, not described previously in the literature. Consequently, the common clinical course in this mutation and its respective contribution to the early fatal outcome is unknown. No conclusion can be established regarding genotype/phenotype correlation.

A case of protracted diarrhea in a newborn: a diagnostic challenge

Congenital diarrhea comprises a broad range of pathologies and often requires a thorough workup and immediate treatment. Although rare, microvillous inclusion disease (MVID) should be included in differential diagnosis of this presentation in the neonate. We report the case of a 36-week newborn who developed signs of severe dehydration and lethargy, requiring fluid resuscitation and total parenteral nutrition. MVID was diagnosed by recognition of profuse secretory diarrhea after an exhaustive etiological investigation, confirmed by DNA analysis.

ANNULAR PANCREAS – A CASE REPORT

Introduction: Annular pancreas is a rare developmental anomaly, representing 1% of the neonatal intestinal obstructions. Case Report: We report a case of prenatal sonographic diagnosis of duodenal obstruction, observed on the 32nd gestational week. There was no other ultrasound finding beyond the ‘double bubble’ sign, which persisted until labour, by the 39th week. An annular pancreas was diagnosed at the 3rd day of life, by an exploratory laparotomy. Conclusion: Diagnosis of partial or total duodenal obstruction is almost exclusively suggested by the ‘double bubble‘ sign, resulting from a dilatation of the stomach and duodenum. Despite being a rare anomaly, the differential diagnosis of annular pancreas should be considered, if this prenatal sonographic finding is observed.

Neonatal Hemophilia: A Rare Presentation.

Hemophilia A is a X-linked hereditary condition that lead to decreased factor VIII activity, occurs mainly in males. Decreased factor VIII activity leads to increased risk of bleeding events. During neonatal period, diagnosis is made after post-partum bleeding complication or unexpected bleeding after medical procedures. Subgaleal hemorrhage during neonatal period is a rare, severe extracranial bleeding with high mortality and usually related to traumatic labor or coagulation disorders. Subgaleal hemorrhage complications result from massive bleeding. We present a neonate with unremarkable family history and uneventful pregnancy with a vaginal delivery with no instrumentation, presenting with severe subgaleal bleeding at 52 hours of life. Aggressive support measures were implemented and bleeding managed. The unexpected bleeding lead to a coagulation study and the diagnosis of severe hemophilia A. There were no known sequelae. This case shows a rare hemophilia presentation reflecting the importance of coagulation studies when faced with unexplained severe bleeding.

Twin anemia-polycythemia sequence: the importance of an accurate diagnosis

Abstract Twin anemia-polycythemia sequence (TAPS), which was first described in 2007, is an atypical chronic form of twin-twin transfusion syndrome (TTTS). It presents as a large intertwin hemoglobin difference, with one twin developing anemia and the other polycythemia, without the traditional “polyhydramnios-oligohydramnios sequence” that is usually seen in TTTS. So far, ideal management of TAPS is not clear. We report here the case of a monochorionic biamniotic gestation, complicated by TAPS, detected at 30 weeks’ gestation that led to an emergent cesarean section. The recipient twin had an uneventful evolution. The donor twin was severely anemic, with a hemoglobin level of 2.5 g/dL that required immediate blood transfusion and intensive care management measures. Clinical evolution was favorable with good outcome in both twins. This case report intends to emphasize the association between hydrops fetalis and severe anemia, as well as the relevance of antenatal Doppler ultrasound investigations and the importance of an accurate management decision.