Prader-Willi syndrome (PWS) is a complex genetic disorder that results from the lack of paternally expressed genes in the chromosome 15q11-q13 region. This study was performed to delineate the clinical features of PWS infants and toddlers and the effects of two-year growth hormone (GH) treatment according to gender and age at the start of treatment.

The clinical characteristics and the results...

This study aimed to investigate the clinical features of macrocephaly at birth in Korea using ultrasonography.

We retrospectively investigated the medical records of full-term birth neonates in Cheil General Hospital & Women's Healthcare Center from January 2000 to June 2012. The following parameters were recorded and analyzed: gestational age, sex, birth weight, height, occipitofrontal circumference (OFC), physical examination, perinatal problems, and...

We investigated the mRNA levels of peroxisome proliferator-activated receptor (PPAR)-α, PPAR-γ, adipokines, and cytokines in the lung tissue of lean and obese mice with and without ovalbumin (OVA) challenge, and the effect of rosiglitazone, a PPAR-γ agonist.

We developed 6 mice models: OVA-challenged lean mice with and without rosiglitazone; obese mice with and without rosiglitazone; and OVA-challenged obese mice with and...

This study aimed to assess early development in very low birth weight (VLBW) infants with mild intraventricular hemorrhage (IVH) or those without IVH and to identify the perinatal morbidities affecting early neurodevelopmental outcome.

Bayley Scales of Infant Development-II was used for assessing neurological development in 49 infants with a birth weight <1,500 g and with low grade IVH (≤grade II) or...

Somatic growth is an important indicator of health in children. Adequate organ growth is essential in growth and directly related to body growth. We consider renal length as a surrogate of organ growth in growing children. Measurement of weight, height, and many anthropometric indices, such as body surface area (BSA), body mass index (BMI), and Rohrer and Kaup indices, are...

Transforming growth factor beta receptor 2 (TGFBR2) is a tumor suppressor gene that plays a role in the differentiation of striated cells and remodeling of coronary arteries. Single nucleotide polymorphisms (SNPs) of this gene are associated with Marfan syndrome and sudden death in patients with coronary artery disease. Cardiovascular remodeling and T cell activation of TGFBR2 gene suggest that the...

This study evaluated the prevalence of the metabolic syndrome (MetS) and risk factors for metabolic derangement in young adults with childhood-onset hypopituitary growth hormone deficiency (ACOHGHD).

Thirty patients with ACOHGHD who were treated with hormone-replacement therapy, aged 18 to 29 years, who visited the Seoul National University Children's Hospital between September 2009 and February 2010 were enrolled. Height, weight, waist circumference,...

Recombinant human growth hormone (rhGH) has been widely used to treat short stature. However, there are some concerns that growth hormone treatment may induce skeletal maturation and early onset of puberty. In this study, we investigated whether rhGH can directly affect the neuronal activities of of gonadotropin-releasing hormone (GnRH).

We performed brain slice gramicidin-perforated current clamp recording to examine the direct...

To determine the clinical manifestations and outcomes of patients with tracheoesophageal fistula (TEF) and esophageal atresia (EA) born at a single neonatal intensive care unit.

A retrospective analysis was conducted for 97 patients with confirmed TEF and EA who were admitted to the neonatal intensive care unit between 1990 and 2007.

The rate of prenatal diagnosis was 12%. The average gestational age...