Introduction: Cornelia de Lange syndrome (CdLS) is a rare non-hereditary syndrome. The key diagnosis unique facial features, limb anomalies, and growth retardation. Cardiac defects with gastrointestinal genitourinary anomalies may be associated. Case Presentation: This case of neonatal CdLS that we think interesting due to its association novel congenital heart complex. Conclusions: Patients ha...

Closure of ATP-sensitive K(+) channels (K(ATP) channels) in response to metabolically generated ATP or binding of sulfonylurea drugs stimulates insulin release from pancreatic beta-cells. Heterozygous gain-of-function mutations in the KCJN11 gene encoding the Kir6.2 subunit of this channel are found in approximately 47% of patients diagnosed with permanent diabetes at <6 months of age. There is...

Respiratory distress syndrome is the most common respiratory disorder in preterm infants. Over the last decade, because of improvements in neonatal care and increased use of antenatal steroids and surfactant replacement therapy, mortality from respiratory distress syndrome has dropped substantially. However, respiratory morbidity, primarily bronchopulmonary dysplasia, remains unacceptably high....

The present study compares neonatal outcome after preterm delivery of infants in pregnancies complicated by the HELLP syndrome or severe preeclampsia (PS). The maternal and neonatal charts of 71 out of a total of 409 pregnancies that were complicated by hypertensive disorders at Severance hospital between January 1995 and December 2004 were reviewed. Twenty-one pregnancies were complicated by H...

Human LMNA gene mutations result in laminopathies that include Emery-Dreifuss muscular dystrophy (AD-EDMD) and Hutchinson-Gilford progeria, the premature aging syndrome (HGPS). The Lmna null (Lmna(-/-)) and progeroid LmnaΔ9 mutant mice are models for AD-EDMD and HGPS, respectively. Both animals develop severe tissue pathologies with abbreviated life spans. Like HGPS cells, Lmna(-/-) and LmnaΔ9 ...

BackgroundEach year about 32.4 million of children are born with low birth weight, which is below the 10th percentile for their gestational ages; moreover, about fifteen million of them are premature. Actually, about 60% of neonatal deaths occur in low birth weight neonates related to their prematurity. This study aimed to determine the neonatal death rate and the most common causes of the hosp...

Four term neonates presented with symptoms such as jitteriness and necrotising enterocolitis after paroxetine exposure in utero.

Neonatal abstinence syndrome (NAS) is a result of the sudden discontinuation of fetal exposure to substances that were used or abused by the mother during pregnancy. Withdrawal from licit or illicit substances is becoming more common among neonates in both developed and developing countries. NAS continues to be an important clinical entity throughout much of the world. NAS leads to a constellat...

OBJECTIVE To assess the annual burden of early neonatal deaths associated with perinatal asphyxia in infants weighing ≥2500g in Brazil from 2005 to 2010. METHODS The population study enrolled all live births of infants with birth weight ≥2500g and without malformations who died up to six days after birth with perinatal asphyxia, defined as intrauterine hypoxia, asphyxia at birth, or meconium ...