Treatment of giant cervico-mediastinal lymphatic malformations: a case series.

Background: Lymphatic malformations are histologically benign vascular structures that vary in anatomic lesion and size. Extensive head and neck lymphatic malformations may be life-threatening. In the present study, we described three difficult-to-treat infants with giant cervico-mediastinal lymphatic malformations accompanied by severe respiratory distress.

Clinical significance of serum alanine aminotransferase and lifestyle intervention in children with nonalcoholic fatty liver disease.

Purpose: This study aimed to investigate the clinical significance of serum alanine aminotransferase (ALT) levels in children with nonalcoholic fatty liver disease (NAFLD) and the effect of lifestyle intervention on NAFLD.

Methods: The clinical data of 86 children diagnosed with NAFLD were reviewed retrospectively. Forty-six patients belonged to the elevated ALT group and 40 to the normal ALT group.

The effect of early menarche on the sexual behaviors of Korean female adolescents.

Purpose: This study examined the relationships between early menarche and sexual behaviors among Korean female adolescents.

Methods: We analyzed data from the eighth Korea Youth Risk Behavior Web-based survey that was conducted on female high school students in grades 10-12. The survey included 17,867 students, and 974 students were assigned to the early menarche group because they had experienced menarche when they were in grade four or below, and 16,893 students were assigned to the normal menarche group because they had experienced menarche during or after grade five.

X-linked recessive myotubular myopathy with MTM1 mutations.

X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagnosis is based on typical histopathological findings on muscle biopsy, combined with suggestive clinical features.

A case of congenital central hypoventilation syndrome with PHOX2B gene mutation in a Korean neonate.

Congenital central hypoventilation syndrome (CCHS) is a life-threatening disorder with apnea and cyanosis during sleep requiring immediate endotracheal intubation during the first day of life. The PHOX2B gene has been identified as the major gene involved in CCHS. This is the first report of a Korean neonate with CCHS confirmed to have a PHOX2B mutation with expanded alleles containing 20 polyalanine repeats that is a relatively small number compared to previous cases.