Hereditary hemolytic anemia is a very heterogeneous disorder in which abnormalities of red blood cell structural protein, globin protein, or enzyme defect lead to shortened life span. There has been much progress in revealing its pathophysiology and genetic backgrounds, but the lifelong plans for caring these patients are not well established yet. All patients with hereditary hemolytic anemic have three common problems: transfusion dependency, iron overload and iron chelation therapy. Patients with hereditary spherocytosis (HS) usually manifest severe anemia in neonatal period and infancy, but transfusion requirements may decrease in adulthood. But patients with thalassemia or sickle cell disease usually transfusion-dependent throughout life. Maintaining the optimal hemoglobin (Hb) levels in these patients is crucial because correction of anemia and dilution of abnormal Hb helps prevent certain complications that frequently occur in these patients. Frequent transfusion leads to transfusion-mediated infection and hemochromatosis. Iron chelation therapy should be started early to prevent permanent organ damage. Folate therapy can be helpful in patients with hereditary spherocytosis. Regular evaluations for cholestasis should be started at age 5, and splenectomy with concurrent cholecystectomy can be considered if the patient has cholecystitis. Hydroxyurea can be used to reduce transfusion requirements and prevent complications in patients with β-thalassemia and sickle cell disease. Consensus on long-term management of patients with hereditary hemolytic anemia is lacking, especially for adult patients. But further efforts to build guidelines for long-term follow-up and management of the patients with hereditary hemolytic anemia in the context of Korean society are needed.
Adult ; Anemia ; Anemia, Hemolytic, Congenital ; Anemia, Sickle Cell ; Chelation Therapy ; Cholecystectomy ; Cholecystitis ; Cholestasis ; Consensus ; Erythrocytes ; Folic Acid ; Follow-Up Studies ; Globins ; Hemochromatosis ; Humans ; Hydroxyurea ; Iron ; Iron Overload ; Splenectomy ; Thalassemia

Retinoblastoma is the most common intraocular malignancy in childhood. Diagnosis is currently made by ophthalmologists under general anesthesia as it is the gold standard for intraocular assessment. However, evaluations for extraocular disease are also necessary. Treatment strategies vary according to the disease status. If a single eye is involved, the treatment goal is oriented to the removal of the tumor and prevention of relapse. In bilateral retinoblastoma, the main treatment goal is to save monocular vision and save life. This article will explore the available treatment options for retinoblastoma including enucleation, radiotherapy, local therapy, intravenous chemotherapy, intra-arterial injection and intra-vitreal injections. There were recent advances in our understanding on the genetic pathophysiology of the retinoblastoma protein gene in tumorigenesis, which may help developing future treatment. Early detection of retinoblastoma is important for prolonging survival and improving quality of life.
Anesthesia, General ; Carcinogenesis ; Diagnosis ; Drug Therapy ; Injections, Intra-Arterial ; Quality of Life ; Radiotherapy ; Recurrence ; Retinoblastoma Protein ; Retinoblastoma ; Stem Cell Transplantation ; Vision, Monocular

The number of childhood cancer survivors is increasing as survival rates improve. However, complications after treatment have not received much attention, particularly metabolic syndrome. Metabolic syndrome comprises central obesity, dyslipidemia, hypertension, and insulin resistance, and cancer survivors have higher risks of cardiovascular events compared with the general population. The mechanism by which cancer treatment induces metabolic syndrome is unclear. However, its pathophysiology can be categorized based on the cancer treatment type administered. Brain surgery or radiotherapy may induce metabolic syndrome by damaging the hypothalamic-pituitary axis, which may induce pituitary hormone deficiencies. Local therapy administered to particular endocrine organs directly damages the organs and causes hormone deficiencies, which induce obesity and dyslipidemia leading to metabolic syndrome. Chemotherapeutic agents interfere with cell generation and growth, damage the vascular endothelial cells, and increase the cardiovascular risk. Moreover, chemotherapeutic agents induce oxidative stress, which also induces metabolic syndrome. Physical inactivity caused by cancer treatment or the cancer itself, dietary restrictions, and the frequent use of antibiotics may also be risk factors for metabolic syndrome. Since childhood cancer survivors with metabolic syndrome have higher risks of cardiovascular events at an earlier age, early interventions should be considered. The optimal timing of interventions and drug use has not been established, but lifestyle modifications and exercise interventions that begin during cancer treatment might be beneficial and tailored education and interventions that account for individual patients' circumstances are needed. This review evaluates the recent literature that describes metabolic syndrome in cancer survivors, with a focus on its pathophysiology.
Anti-Bacterial Agents ; Antineoplastic Protocols ; Brain ; Dyslipidemias ; Early Intervention (Education) ; Education ; Endothelial Cells ; Humans ; Hypertension ; Insulin Resistance ; Life Style ; Metabolic Syndrome X ; Obesity ; Obesity, Abdominal ; Oxidative Stress ; Radiotherapy ; Risk Factors ; Survival Rate ; Survivors*

PURPOSE: This study investigated the clinical significance of AN in children and adolescents with obesity induced metabolic complications. METHODS: Forty-nine patients who had obesity induced metabolic complications were participated in this cross-sectional study. Obesity induced metabolic complications are as follows: hypertension, dyslipidemia, impaired fasting glucose (IFG), impaired glucose tolerance (IGT), nonalcoholic steatohepatitis (NASH), homeostasis model assessment of insulin resistance (HOMA-IR)>3.16. Clinical characteristics, such as, age, percentage-weight-for-height (PWH), pubertal status, blood pressure (BP), fasting plasma insulin level, fasting and post-oral glucose tolerance test 2-hour glucose levels, liver function test, lipid profile, HOMA-IR were compared according to the presence of AN. RESULTS: Sixty-five percent of patients had AN, 57.1% NASH, 57.1% dyslipidemia, 55.1% hypertension, 46.9% IFG, 24.5% HOMA-IR>3.16 and 16.2% IGT. The patients who were moderately to severely obese with AN had higher incidence of IGT and HOMA-IR>3.16. The patients with AN had significantly higher diastolic BP (79.4+/-6.9 vs 75.4+/-5.6 mmHg), fasting levels of plasma insulin (10.6+/-6.0 vs 6.2+/-5.4 microIU/mL), HOMA-IR index (2.6+/-1.4 vs 1.4+/-1.3) and PWH (42.4+/-13.0 vs 34.3+/-1.8%). The increasing tendency for the presence of AN was significantly related to the cumulative number of obesity induced metabolic complications. Binary logistic regression analysis revealed that the presence of AN was significantly associated with fasting plasma insulin level, PWH and IFG. CONCLUSION: AN could be useful as a clinical surrogate of obesity induced metabolic complications.
Acanthosis Nigricans* ; Adolescent* ; Blood Pressure ; Child* ; Cross-Sectional Studies ; Dyslipidemias ; Fasting ; Fatty Liver ; Glucose ; Glucose Tolerance Test ; Homeostasis ; Humans ; Hypertension ; Incidence ; Insulin ; Insulin Resistance ; Liver Function Tests ; Logistic Models ; Obesity* ; Plasma

Adrenocortical tumors in children are rare and show various clinical symptoms. We present an 8-year-old boy with peripheral precocious puberty caused by adrenocortical tumor. He showed elevated serum DHEA-S and 17-hydroxyprogesterone, and computed tomography revealed an abdominal mass. After surgical resection, he developed central precocious puberty. We report a rare case that showed progression from peripheral precocious puberty to central precocious puberty.
17-alpha-Hydroxyprogesterone ; Adrenal Cortex Neoplasms ; Child ; Humans ; Puberty, Precocious

BACKGROUND: Growth of the children who received allogeneic stem cell transplantation (allo-SCT) is known to be impaired. We analyzed the patterns of growth in long-term survivors of acute leukemia who are disease free more than 5 years after allo-SCT.METHODS: Heights and weights of 55 patients with acute leukemia who received allo-SCT between January 1999 and December 2005 in Samsung Medical Center, and who are alive without disease, were assessed. Heights and weights of the patients' parents were assessed to compare with the patients' growth.RESULTS: 24 patients with acute lymphoblastic leukemia, 5 patients with acute biphenotypic leukemia, and 26 patients with acute myeloid leukemia have been followed up during 97 months (63-176 months). All patients had decreased final height Z-score and weight Z-score (height, male, -1.273 (-2.383-1.53), female -0.871 (-2.398-0.827), weight, -0.976 (-4.532-2.706) and -0.949 (-3.695-1.856), respectively). Final height of 23 patients aged over 18 was 165.0 cm (157.1-174.9) in male, and 156.9 cm (149.2-165.1) in female patients. Final height was decreased compared to their mid-parental height (male, 171.0 cm (167.5-178.0 cm), P=0.003, female, 160.0 cm (156.0-161.0 cm), P=0.460). Total body irradiation (TBI) and age at diagnosis was the risk factor for decreased final height. But others didn't affect to adult height. Nineteen (34.5%) patients have been treated for various endocrine problem, and 12 (21.8%) had other complications.CONCLUSION: Patients with acute leukemia treated with allo-SCT had decrease in final growth, and had many other medical problems. Further efforts to evaluate and manage these problems are desperately needed.
Adult ; Aged ; Child ; Female ; Hematopoietic Stem Cell Transplantation ; Humans ; Leukemia ; Leukemia, Biphenotypic, Acute ; Leukemia, Myeloid, Acute ; Male ; Parents ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Risk Factors ; Stem Cell Transplantation ; Stem Cells ; Survivors ; Weights and Measures ; Whole-Body Irradiation

In 1940, Kasabach and Merritt first described the association of a large vascular tumor and thrombocytopenia and termed this Kasabach-Merritt syndrome. This is characterized by a rapidly enlarging hemangioma with thrombocytopenia and coagulopathy. We describe an infant with a large complex vascular lesion of the face that was diagnosed in utero and successfully treated interferon and pentoxyfylline. In a fetus at 36+0 weeks gestation, ultrasound demonstrated abnormality of the face and neck. she was delivered at 38+5 weeks gestation with a large facial hemangioma. She had severe thrombocytopenia in the first 24hr of life (platelets 22,000/microliter) and she was commenced on oral steroids(prednisolone 2 mg/kg/day). The hemangioma continued to grow and the baby required frequent platelet transfusions. When the infant was 17 days old, treatment with pentoxyfylline and subcutaneous alpha interferon(initially 60,000 units/m2/day) was started. From 1 month of age, the hemangioma gradually reduced in volume and the platelet count stared to rise. Recent, the hemangioma progressively diminished in size without any serious complication.
Fetus ; Hemangioma ; Humans ; Infant ; Interferon-alpha ; Interferons ; Kasabach-Merritt Syndrome* ; Neck ; Platelet Count ; Platelet Transfusion ; Pregnancy ; Thrombocytopenia ; Ultrasonography ; Ultrasonography, Prenatal*

The ethical statement was omitted unintentionally.

BACKGROUND: Iron deficiency anemia (IDA) is a disease prevalent throughout the world. However, there is limited information regarding whether familial factors are associated with the risk of adolescent IDA. METHODS: This study evaluated the association between adolescent IDA and family history of IDA using data from the fifth Korea National Health Nutrition Survey (2010–2012). Data from 10-18-year-old children who underwent laboratory testing were analyzed. RESULTS: The overall prevalence of IDA was 3.1% (95% confidence interval [CI]: 2.4−4.1%), with prevalence of 0.5% among boys (95% CI: 0.2−1.3%) and 6.2% among girls (95% CI: 4.6−8.3%). The prevalence of IDA was associated with female sex (odds ratio [OR]: 13.43, 95% CI: 4.92−36.65; P < 0.001) and a family history of IDA (OR: 3.12, 95% CI: 1.11−8.76; P=0.03). Other risk factors for IDA were receiving social welfare support (OR: 3.31, 95% CI: 1.45−7.56; P=0.031), low maternal education (OR: 3.12, 95% CI: 1.39−6.99; P=0.006), receiving charitable food support (OR: 2.27: 95% CI: 0.9−5.44; P=0.04), poor body-image (OR: 2.14, 95% CI: 1.16−3.93; P=0.026), and weight-loss efforts (OR: 2.42, 95% CI: 1.27−4.61; P=0.01). Nutritional supplementation protected against IDA (OR: 0.40, 95% CI: 0.19−0.82; P=0.007), although adolescents with awareness of nutritional labels had a high IDA prevalence (OR: 8.06, 95% CI: 1.71−38.05; P < 0.001). CONCLUSION: A family history of IDA was an independent risk factor for IDA. Further studies are needed to determine whether family-level educational interventions can reduce the risk of adolescent IDA.
Adolescent* ; Anemia ; Anemia, Iron-Deficiency* ; Child ; Education ; Female ; Humans ; Iron* ; Korea* ; Nutrition Surveys* ; Prevalence ; Risk Factors* ; Social Welfare

PURPOSE: This study evaluated the effect of first nocturnal ejaculation timing on risk and sexual behaviors of Korean male adolescents. METHODS: We analyzed data from the 10th edition of the Korea Youth Risk Behavior Web-based survey that was conducted with male high school adolescents in grades 10–12. The survey included 17,907 adolescents, and 10,326 responded their experience of first nocturnal ejaculation. Of these, 595 had their first nocturnal ejaculation in ≤grade 4 (“early puberty”) and 9,731 had their first nocturnal ejaculation in ≥grade 5 (“normal puberty”). We analyzed differences between these 2 groups in risk and sexual behaviors. RESULTS: Early first nocturnal ejaculation showed a positive association with sexual intercourse (odds ratio [OR], 3.27; 95% confidence interval [CI], 2.56–4.17), sexual debut at elementary school age (OR, 7.45; 95% CI, 5.00–11.10), and having had a sexually transmitted disease (OR, 6.60; 95% CI, 3.94–11.08). After a multiple logistic regression to adjust for socio-demographic variables, early first nocturnal ejaculation was still positively associated with sexual intercourse (OR, 2.73; 95% CI, 2.03–3.69), sexual debut at elementary school age (OR, 5.96; 95% CI, 3.47–10.22), and having had a sexually transmitted disease (OR, 5.17; 95% CI, 2.52–10.20). Early first nocturnal ejaculation was positively associated with alcohol consumption, smoking, and substance use. However, this was not statistically significant after adjusting for several socio-demographic variables. CONCLUSION: There is a positive association between early nocturnal ejaculation and sexual behaviors in male adolescents. Proactive education about sexual behaviors is required for adolescents who reach sexual maturity early.
Adolescent* ; Alcohol Drinking ; Coitus ; Education ; Ejaculation* ; Humans ; Korea ; Logistic Models ; Male ; Male* ; Puberty ; Risk-Taking ; Sexual Behavior* ; Sexually Transmitted Diseases ; Smoke ; Smoking