Lourdes García-Fragoso

Pentalogy of Cantrell: A Case Report with Pathologic Findings

We present the case of a 28-h-old female infant born at 37 weeks of gestation with a rare congenital malformation consisting of a pentad of findings: ectopia cordis, a midline supraumbilical wall defect, a defect of the lower sternum, absent pericardium, and an anterior diaphragmatic defect. This constellation of defects is known as the pentalogy of Cantrell. Additional autopsy findings included a bilateral cleft lip and palate, bilateral pulmonary hypoplasia, an atrial septal defect, and a patent ductus arteriosus. We present this case because of its rarity and discuss the pathologic findings.

Outcome of very-low-birth-weight infants who received epinephrine in the delivery room

BACKGROUND In recent years, there has been an increase in the number of very low birth weight (VLBW) infants and an improvement in their survival. However, there are no specific recommendations regarding the use of resuscitative efforts for VLBW infants, and there is scant data in the literature on morbidity and mortality in relation to epinephrine administration. Due to the vulnerability of VLBW infants, studies that examine the effects and consequences of cardiovascular resuscitation and epinephrine administration are needed. STUDY AIM The objective of this study is to determine the outcome of VLBW infants, who received epinephrine in the delivery room. METHODS Medical records of VLBW infants admitted to neonatal intensive care unit (NICU) from 1999 to 2007 were reviewed, and infants who received epinephrine in the delivery room were identified and included in the study. RESULTS Infants who received epinephrine are smaller in terms of gestational age and birth weight and have decreased survival. After adjusting for gestational age and birth weight, infants who received epinephrine presented lower 1 and 5 min APGAR (Appearance, Pulse, Grimace, Activity, Respiration) scores, more respiratory distress syndrome, lower survival (26% vs. 43%, p<0.01) and lower survival without severe brain injury (17% vs. 32%, p<0.01). CONCLUSIONS VLBW infants, who require epinephrine in the delivery room, are smaller in terms of gestational age and birth weight. The requirement of epinephrine in the delivery room during resuscitation may be associated to worst outcomes and decreased survival without severe brain injury. These findings lead to more questions on how aggressive resuscitation efforts should be for these infants.

Presence of the 5,10-methylenetetrahydrofolate reductase C677T mutation in Puerto Rican patients with neural tube defects.

Folic acid supplementation can reduce the incidence of neural tube defects. The first reported genetic risk factor for neural tube defects is a C677T mutation in the 5,10-methylenetetrahydrofolate reductase gene, resulting in decreased activity of the enzyme. We examined the enzyme mutation role of methylenetetrahydrofolate reductase in the etiology of neural tube defects in our population. The study group consisted of 204 Puerto Rican individuals including 37 pregnant females with a prenatal diagnosis of neural tube defects in their fetuses, 31 newborns, 36 fathers, and 100 healthy adults. The prevalence of the C677T mutation was examined. Homozygosity for the alanine to valine substitution (TT) was observed in 9% of the controls and 19% of the mothers with children with neural tube defects. Our results indicate that the presence of the T allele at the methylenetetrahydrofolate reductase 677 position may increase the risk of giving birth to an infant with a neural tube defect. (J Child Neurol 2002;17:30-32).

Perinatally Acquired Chikungunya Infection: The Puerto Rico Experience.

for varicella from January 2004 to November 2011 at Bambino Gesù Children Hospital, Roma, Italy. Neurologic complications occurred in 21.7%. The pooled prevalence of neurologic complications resulting from a systematic review of the literature from January 1990 to January 2012 identified the likelihood of pediatric neurologic complications in the 13.9%–20.4%. We speculate that the different incidences in neurologic complications may be due to the age of patients included in the study, to a different sociodemographic structure of the population or to different hospitalization policies. Finally, the authors show the highest rate of hospitalizations in years 2011 to 2013 resulting from varicella complications. They speculate that this should be the consequence of the economic crisis, “with long working hours for parents limiting early presentation for care.” We speculate that the delay in hospital admission can be due to a public perception of varicella infection as a harmless childhood affliction. In fact, media are known to be able to influence the population even on health decisions. In particular, the use of the internet to search for medical and health-related information is increasing. Unfortunately, it is associated with concerns about both the quality and the safety of immunization policy and of medical treatment. Finally, pediatricians may have underestimated the potential risk of varicella, considering it a benign acute disease, possibly contributing to the delay of primary care.