Inherited muscle diseases are heterogeneous with varying genetic etiologies and present with common symptoms and signs, including weakness, motor developmental delay, and hypotonia. To diagnose these various diseases, a meticulous family and clinical history, physical and neurological examinations, laboratory findings with electromyography, muscle biopsy, and genetic testing are needed. Here, I review several inherited muscle diseases, with a focus on... |
Purpose : Diamond-Blackfan anemia (DBA) is a rare heterogeneous genetic disorder of infancy and early childhood. It is characterized by red cell aplasia, congenital anomalies, and a predisposition to cancer. Corticosteroids and red cell transfusions are the mainstays of therapy. We describe our experience of 6 cases of DBA that were encountered over a period of 16 years. Methods :... |
Purpose : This study aims to determine whether early closure (within 7 d) of significant patent ductus arteriosus (PDA) with indomethacin or ligation reduces neonatal morbidity when compared with delayed closure (after 7 d). Methods : Fifty-eight extremely-low-birth-weight infants admitted to the NICU of Seoul National University Hospital from April 2005 to May 2007 with PDA were studied retrospectively. Results :... |
Purpose : This study was performed evaluate optimal dose for disimpaction, efficacy and safety of PEG 4000 in children with chronic functional constipation. Methods : Eighty six children with chronic functional constipation were enrolled in this prospective study at Konkuk university hospital March, 2003 through August, 2006. Success in disimpaction with PEG 4000 was defined as meeting at least two out... |
Purpose : Bartter syndrome is a renal tubular defect in electrolyte transport characterized by hypokalemia, metabolic alkalosis and other clinical signs and symptoms. The aims of this study were to analyze the clinical manifestations and the short- and long-term outcomes of Bartter syndrome. Methods : We retrospectively reviewed clinical history, laboratory finding of blood and urine, renal ultrasonography, and hearing... |
The diagnosis of juvenile rheumatoid arthritis (JRA) is based on patient's age at disease onset, symptom duration, gender, and clinical manifestations. JRA is of unknown origin, begins under the age of 16, and persists for a minimum of 6 weeks. JRA is categorized into three principal types, systemic, oligoarticular and polyarticular. Infection, other connective tissue diseases, malignancy, trauma, and immunodeficiency... |
Myocarditis represent an important condition encountered by general pediatricians & general practitioners. Its presentation is varied, and therefore a high index of suspicion must be maintained when the possibility of myocarditis is raised. A progression from viral myocarditis to dilated cardiomyopathy has long been hypothesized. Treatment is initially aimed at achieving hemodynamic stability and is largely supportive. There is currently... |
Purpose : To determine the optimal time of high dose intravenous immune globulin (IVIG) treatment, we analysed the clinical characteristics and progress of a group of Kawasaki disease patients who had early treatment with IVIG. Method : A retrospective study was conducted of 188 patients with Kawasaki disease who were admitted to Yeungnam University Medical Center from January 2000 to December... |
Interferon (IFN) alpha has been the first line therapy of chronic hepatitis B in children, but HBeAg seroconversion occurred in 26% of treated children compared to 11% of controls in multinational randomized controlled study. Recently, lamivudine was shown to be a potent inhibitor of Hepatitis B virus (HBV) reproduction both in HBeAg positive and in HBeAg negative (the pre-core mutant... |
Hemophilia is the most common coagulation disorder. It has a long history. Hemophilia A is caused by FVIII gene mutation, and hemophilia B by FIX gene mutation. Those genes are located on X chromosome long arm. Bleedings in hemophiliacs predominantly occur in joints and muscles. Because those site are insufficient in tissue factor to induce hemostasis. Among joints knee, ankle... |
Allergic rhinitis is a common disease of childhood characterized by nasal, throat, and ocular itching, rhinorrhea, sneezing, nasal congestion. Those affected with allergic rhinitis often suffer from associated inflammatory conditions of the mucosa, such as allergic conjunctivitis, rhinosinusitis, asthma, otitis media with effusion, and other atopic conditions, such as eczema and food allergies. Allergic rhinitis must be diagnosed and treated... |
Chyluria is the passage of milky urine due to the leakage of lymph into the urinary tract. Chyluria occurs predominantly in adults and is rare in children. We present an unusual case in which a child with proteinuria, hematuria and milky urine was subsequently diagnosed with non-parasitic chyluria. Retrograde cystogram confirmed a lymphatico-calyceal communication. This case showed spontaneous remission. The... |
Purpose : The purpose of this study was to evaluate the types of lymphadenitis after BCG vaccination and the effect of local rifampicin instillation on the treatment of suppurative BCG lymphadenitis. Methods : A total of 32 otherwise healthy infants with suppurative BCG lymphadenitis, who visited the Department of Pediatrics of Chonbuk National University Hospital, from March 2002 through June 2004,... |
Purpose : Acute pyogenic osteomyelitis is uncommon in children. Delayed diagnosis and inappropriate treatment are leading to growth failure and deformation. We review the clinical manifestations and treatment of acute osteomyelitis in children according to age. Methods : A retrospective analysis was made of 32 patients who underwent antibiotic management or operation between Aug 1989 and Dec 2003 for acute... |
Purpose : To find the risk factors associated with coronory artery lesions, non-responsiveness to intravenous immunoglobulin(IVIG) treatment, and recurrences in Kawasaki disease patients. Methods : We retrospectively analyzed 1,000 Kawasaki disease patients who were admitted to Yonsei University Medical Center from September 1990 to December 2003. We compared between responder and non-responder groups to IVIG treatment as well as between relapsed... |
Purpose : We compared the therapeutic efficacy of lamivudine and alpha-interferon in children with chronic hepatitis B two years after the initiation of treatment, so that we could verify the safety and long term efficacy of lamivudine in children. Methods : We prospectively studied 44 children(32 male and 12 female; age, 1-18 years, mean, 9 years) treated for chronic hepatitis B... |
Childhood immune thrombocytopenic purpura(ITP) is a typically benign self-limiting bleeding disorder of not fully known autoimmune etiology. Chronic ITP, which is defined by duration of more than 6 months, occurs in approximately 20% of children. Neither the risk of bleeding nor the type of disease, acute or chronic, can be predicted at initial presentation. The indication of treatment, choice... |
Epilepsy is one of the most common and disabling neurologic disorders in childhood. The primary goal of epilepsy treatment is to choose the treatment modality that provides the best chance of improving the patient's quality of life. In addition to classic antiepileptic drugs, newly developed antiepileptic drugs ketogenic diet, epilepsy surgery, and vagal nerve stimulation have improved the ability to... |
Purpose : The optimal timing and the consequences of dexamethasone therapy in chronic lung disease remain unknown. The purpose of this study was to determine whether early dexamethasone therapy would reduce the incidence of chronic lung disease and to determine the adverse effects and complications of prematurity associated with such therapy. Methods : Twenty neonates with hyaline membrane disease(dexamethasone n=10, placebo... |
Purpose : To evaluate the predictable factors for why initial intravenous immune globulin(IVIG) therapy failed and the outcome of coronary lesions after additional IVIG retreated in initial IVIG- resistant Kawasaki disease(KD). Methods : Retrospective studies were performed on 284 cases of KD treated with one episode of high-dose IVIG and 63 cases with additional IVIG retreatment at this hospital from January... |
Purpose : This study was designed to evaluate the effect of growth hormones on children with growth hormone deficiency(GHD) or idiopathic short stature(ISS). Methods : Between January 1988 to July 2003, 45 patients(M26, F19) with GHD and 24 patients (M13, F11) with ISS were enrolled in this study. Height standard deviation score(Ht SDS) for chronological age(CA) and Ht SDS for bone... |
Helicobacter pylori(H. pylori) infection is mainly acquired in childhood. The prevalence of infection is still highest in children in the developing world. There has been a need for clinical guidelines for H. pylori infection in children. Therefore, the North American Society for Pediatric Gastroenterology and Nutrition and the European Paediatric Task Force on H. pylori achieved consensus and developed clinical... |
Purpose : The purpose of this study was to evaluate the factors affecting the final adult height and total height gain in idiopathic and organic growth hormone deficient(GHD) children after growth hormone(GH) treatment. Methods : Thirteen patients with idiopathic GHD and 22 patients with organic GHD who had been treated with GH and attained adult final height were included in this... |
Purpose : To assess the clinical features and laboratory findings in Kawasaki patients with nonresponsibility to the acute antiinflammatory treatment, and identify the risk factors for the nonresponsibility, we reviewed the medical records of patients with Kawasaki disease. Methods : A retrospective study of 177 patients with Kawasaki disease at Wonkwang University Medical Center from June, 1997 to June, 2002, was... |
Purpose : To determine clinical features, laboratory findings and cardiac abnormalities of highdose immune globulin(IVIG) retreatment in patients with Kawasaki disease, and to report effectiveness of retreatment. Methods : Retrospective study of 174 children diagnosed with Kawasaki disease at Ewha Mokdong hospital from March, 1999 to July, 2001. Results : Twenty(11.5%) of 174 patients were retreated with high-dose IVIG. After this, only two patients(1.1%) did not... |
Purpose : Brain tumors are the most common solid tumor in children. We retrospectively investigated the clinical characteristics of pediatric brain tumors, such as age, sex, tumor site and survival, as seen in a single institution over the last 15 years. We tried to evaluate the role of chemotherapy on the survival of some brain tumors. Methods : Three hundred... |
Primary segmental infarction of the greater omentum is a rare condition which usually simulates acute appendicitis or cholesystitis because of right-sided abdominal pain, tenderness, fever and leukocytosis. Its cause is unknown. Most authors believe that the condition results from an embryologic variant associated with anomalous and fragile blood supply of the right lower portion of the greater omentum, which is... |
Purpose : This study was designed to determine the outcome and safety of intravenous gamma- globulin(IVGG) retreatment in Kawasaki disease. Methods : A clinical observation of the therapeutic effects, laboratory findings and echocardiograms was carried out on 72 patients with Kawasaki disease in Kosin University Hospital from 1991 to 1999. 27 patients were treated with 1g/kg/day IVGG for 2 days,... |
Purpose : Intravenous gamma globulin(IVGG) treatment has reduced symptoms and complications in Kawasaki disease(KD). However, fever persisted in 20-30% of the patients, and there are no reliable data on the indication and dosage of IVGG re-treatment. Therefore, we tried to reveal the effectiveness of IVGG re-treatment and to find risk factors in predicting the re-treatment. Methods : Among 57 patients with... |
Purpose : Wilson disease is a hereditary metabolic disorder characterized by an accumulation of copper in tissues which sometimes results in renal problems. This study was performed to evaluate the prevalences of the renal problems in Wilson disease and related risk factors. Methods : In 31 patients with Wilson disease, we looked for renal problems by history taking, physical examination... |