Clinical Characteristics of Gynecologic Problems During Childhood in the Korean Population.

Background: This study analyzed common gynecologic problems among Korean patients younger than ten years.

Methods: We performed a retrospective analysis of medical records of patients younger than ten years who visited the Pediatric and Adolescent Gynecology Clinic at Samsung Medical Center between 1995 and 2020.

Results: Among the 6,605 patients who visited the Pediatric and Adolescent Gynecology Clinic, data from 642 patients younger than ten years were analyzed in this study.

Research Trends in C-Terminal Domain Nuclear Envelope Phosphatase 1.

C-terminal domain nuclear envelope phosphatase 1 (CTDNEP1, formerly Dullard) is a member of the newly emerging protein phosphatases and has been recognized in neuronal cell tissues in amphibians. It contains the phosphatase domain in the C-terminal, and the sequences are conserved in various taxa of organisms. CTDNEP1 has several roles in novel biological activities such as neural tube development in embryos, nuclear membrane biogenesis, regulation of bone morphogenetic protein signaling, and suppression of aggressive medulloblastoma.

Rates and subsequent clinical course of fetal congenital anomalies detected by prenatal targeted ultrasonography of 137 cases over 5 years in a single institute: a retrospective observational study.

Background: With the establishment of international guidelines and changes in insurance policies in Korea, the role of targeted ultrasonography has increased. This study aimed to identify the rates and clinical course of anomalies detected using prenatal targeted ultrasonography.

Methods: This study was a retrospective analysis of all pregnancies with targeted ultrasonography performed in a single secondary medical center over 5 years.

Uterine alveolar rhabdomyosarcoma in an elderly patient manifesting extremely poor prognosis; a rare subtype of rhabdomyosarcoma.

Alveolar rhabdomyosarcoma (ARMS) arising in the corpus uteri is an extremely rare condition with exceptionally rapid progression and poor prognosis. Furthermore, ARMS is primarily diagnosed in the pediatric population. Due to rarity of the disease, there are no standard treatment guidelines.

Relationship Between Aggravation of Seizures and Methylphenidate Treatment in Subjects with Attention-Deficit/Hyperactivity Disorder and Epilepsy.

Objectives: We aimed to investigate the effectiveness and safety of methylphenidate (MPH), and especially its influence on seizures, in subjects with attention-deficit/hyperactivity disorder (ADHD) and epilepsy through a retrospective chart review of subjects treated with MPH in a clinical setting. We also evaluated factors that could affect seizure aggravation during MPH treatment.

Methods: From April 2004 to July 2011, MPH was prescribed to 105 subjects with ADHD and epilepsy.

Preparation of fluoride-loaded microcapsules for anticariogenic bacterial growth using a coaxial ultrasonic atomizer.

A new method to deliver fluoride using biodegradable poly(lactic-co-glycolic acid) microcapsules to suppress cariogenic bacterial growth during orthodontic treatment was investigated. A coaxial ultrasonic atomizer was used to encapsulate KF solution into microcapsules. The orthodontic adhesive resin disk containing fluoride loaded microcapsules (DFLM) was prepared by LED light curing.

Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene.

Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue. We report 2 cases of familial CCMs diagnosed with the CCM1 mutation by using a genetic assay. A 5-year-old boy presented with headache, vomiting, and seizure-like movements.

Risk factors for neurological complications and their correlation with survival following pediatric liver transplantation.

Despite the improved outcomes of LT, post-operative NCs remain a significant cause of morbidity and mortality. The aim of the study was to identify the incidence of and risk factors for NCs in children who underwent LT. The medical records of pediatric patients who underwent LT at Asan Medical Center Children's Hospital between January 1994 and December 2010 were retrospectively analyzed.

Causes and outcomes of asymptomatic gross haematuria in children.

Aim: Although asymptomatic gross haematuria (GHU) is relatively common in children, its causes and clinical outcomes are not clearly defined.

Methods: Children with asymptomatic GHU were examined and work-up was performed. Patients with recurrent GHU with proteinuria, or significant proteinuria, were considered for renal biopsy.

Determinants of intelligence in childhood-onset epilepsy: a single-center study.

The purpose of this study was to quantify the intelligence of children with epilepsy and to determine the clinical factors associated with intellectual impairment. The medical records of patients diagnosed with childhood-onset epilepsy at a single tertiary medical center in Korea between 2006 and 2011 were retrospectively reviewed. The Korean Education Development Institute-Wechsler Intelligence Scale for Children or Korean Wechsler Intelligence Scale for adults was used to quantify the level of intelligence.

Long-term use of clobazam in Lennox-Gastaut syndrome: experience in a single tertiary epilepsy center.

Objective: Clobazam (CLB) is a 1,5-benzodiazepine, which is known to be effective for treating refractory partial epilepsy. We have evaluated the long-term efficacy and tolerability of CLB as an add-on therapy in patients with Lennox-Gastaut syndrome (LGS).

Methods: Forty-six patients with LGS who had received CLB add-on therapy were enrolled in this study.

Central nervous system (CNS) involvement is a critical prognostic factor for hemophagocytic lymphohistiocytosis.

Background: Hemophagocytic lymphohistiocytosis (HLH) is a rare multisystem disorder that frequently involves the central nervous system (CNS). We compared the clinical characteristics, treatment, and prognosis of patients with HLH according to the degree of CNS involvement.

Methods: The clinical manifestations, initial laboratory data, treatment, and outcomes for 50 patients diagnosed with HLH and treated at Asan Medical Center between January 1995 and August 2011 were retrospectively reviewed and analyzed.

Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease: metabolic abnormalities as diagnostic tools.

Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked recessive disorder characterized by dysmyelination in the central nervous system. PMD results from deletion, mutation, or duplication of the proteolipid protein gene (PLP1) located at Xq22, leading to the failure of axon myelination by oligodendrocytes in the central nervous system. PMD may be suspected when there are clinical manifestations such as nystagmus, developmental delays, and spasticity, and genetic analysis can confirm the diagnosis.

A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance.

Hereditary fructose intolerance is an autosomal recessive disorder that is caused by a deficiency in fructose-1-phosphate aldolase (Aldolase B). Children can present with hypoglycemia, jaundice, elevated liver enzymes and hepatomegaly after intake of dietary fructose. Long-term intake of fructose in undiagnosed patients can result in hepatic failure or renal failure.

Determination of the effective gas diffusivity of a porous composite medium from the three-dimensional reconstruction of its microstructure.

The present work describes a procedure to calculate the effective diffusivity of a porous composite medium from the three-dimensional reconstruction of its microstructure. We perform Monte Carlo simulations based on the mean-square displacement method on numerical models of composite materials microstructures. First, computations of the effective diffusivity in the bulk diffusion regime account for the effect of the tortuosity of the geometry on gas diffusion.