Tuberous sclerosis is an autosomal dominant disorder of cellular differentiation that affect the brain, skin, heart, kidney and other organs. We experienced three cases of tuberous sclerosis that affect multiple organs in mother and two daughters. We report these cases with brief review and related literatures.
Brain ; Heart ; Humans ; Kidney ; Mothers* ; Nuclear Family* ; Skin ; Tuberous Sclerosis*

PURPOSE: Among syndromes of idiopathic occipital lobe epilepsy there are Panayiotopoulos syndrome (PS) and idiopathic childhood occipital epilepsy of Gastaut (ICOE-G). However, the classification of epilepsy syndrome is difficult to diagnose at the first seizure because of varying characteristics. We analyzed the different clinical characteristics and prognostic factors of idiopathic occipital lobe epilepsy. METHODS: Forty-three patients who had at least two unprovoked seizures, no abnormalities on magnetic resonance imaging, no known etiology of seizure, and mainly occipital spikes on electroencephalography were retrospectively enrolled at the Korea University Medical Center. A good prognosis was defined as being seizure-free and taking two or less drugs for 1 year. RESULTS: Among all patients, the proportion of PS was 44.2%, ICOE-G was 7.0% and unclassified group was 48.8%. The age at seizure onset was 4.5±2.6 years (mean±SD) in the PS group, and 8.3±2.1 years in the ICOE-G group. The follow-up duration was 10.8±6.0 years. The percentage that the initial diagnosis had not been changed was 66.7% in the PS group and 100% in the ICOE-G group. Among other related symptoms only emesis (P<0.001) and visual symptoms (P=0.007) had varying characteristics between the PS and ICOE-G groups. Patients with PS had a better prognosis than those with ICOE-G or unclassified group (odds ratio [OR]=58.8). Patients with 1 more autonomic symptoms had a worse prognosis (OR=3.8). CONCLUSION: This study showed that only symptoms of emesis and visual symptoms can differentiate between PS and ICOE-G. More autonomic symptoms were associated with worse prognosis in childhood occipital lobe epilepsy.
Academic Medical Centers ; Classification ; Diagnosis ; Electroencephalography ; Epilepsies, Partial* ; Epilepsy ; Follow-Up Studies ; Humans ; Korea ; Magnetic Resonance Imaging ; Occipital Lobe* ; Prognosis ; Retrospective Studies ; Seizures ; Vomiting

PURPOSE: 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. METHODS: 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 (< or =grade II) or those without IVH at a corrected age of 12 months. RESULTS: Among the 49 infants, 19 infants (38.8%) showed normal development and 14 (28.6%) showed abnormal mental and psychomotor development. Infants with abnormal mental development (n=14) were mostly male and had a longer hospitalization, a higher prevalence of patent ductus arteriosus (PDA) and bronchopulmonary dysplasia (BPD), and were under more frequent postnatal systemic steroid treatment compared with infants with normal mental development (n=35, P<0.05). Infants with abnormal psychomotor development (n=29) had a longer hospitalization and more associated PDA compared to infants with normal psychomotor development (n=20, P<0.05). Infants with abnormal mental and psychomotor development were mostly male and had a longer hospitalization and a higher prevalence of PDA and BPD compared to infants with normal mental and psychomotor development (n=19, P<0.05). Using multiple logistic regression analysis, a longer duration of hospitalization and male gender were found to be significant risk factors. CONCLUSION: Approximately 62% of VLBW infants with low grade IVH or those without IVH had impaired early development.
Birth Weight ; Bronchopulmonary Dysplasia ; Ductus Arteriosus, Patent ; Hemorrhage ; Hospitalization ; Humans ; Infant ; Infant, Newborn ; Infant, Very Low Birth Weight ; Intracranial Hemorrhages ; Logistic Models ; Male ; Prevalence ; Weights and Measures

It is well-known that the prevalence of attention deficit hyperactivity disorder (ADHD) is higher in epileptic children than in the general pediatric population. The aim of this study was to compare the accompaniment of ADHD in epileptic children with well-controlled seizures and no significant intellectual disability with that in healthy controls. We included epileptic children between the ages of 6 and 12 yr visiting our clinic for six consecutive months and controls without significant medical or psychiatric illnesses. We excluded patients with intellectual disability or persistent seizures during the recent three months. The diagnosis of ADHD was based on the criteria of the Diagnostic and Statistical Manual of Mental Disorders-IV (DSM-IV). After exclusion of 84 patients, we enrolled 102 (54.8%) children (mean age, 9.4 +/- 2.0 yr). Seven (7 of 102, 6.9%) were diagnosed with ADHD. As compared to control group (4 of 110, 3.6%), there was no difference in ADHD accompaniment (P = 0.29). No difference was observed in ADHD accompaniment according to seizure type and epilepsy syndrome. In conclusion, the accompaniment of ADHD in epileptic children with well-controlled seizures and no intellectual disability may not differ from that of the general pediatric population.
Age Factors ; Attention Deficit Disorder with Hyperactivity/complications/*diagnosis ; Brain/radiography ; Child ; Electroencephalography ; Epilepsy/complications/*diagnosis ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Seizures/complications/diagnosis ; Sex Factors

Avian influenza (AI) is an infectious, low pathogenic virus that is endemic all over the world and poses a potential threat to the poultry industry. Vaccination is a widely used effective method to prevent avian influenza virus. Here we employed a comparative proteomics approach [two-dimensional electrophoresis (2-DE) and matrix assisted laser desorption ionization-time of flight (MALDI-TOF)] to characterize proteome in the sera from the specific pathogen free (SPF) chickens, the vaccinated chickens, and the naturally infected chickens. We identified total 58 proteins that were differentially expressed in the sera of three groups. Among them ovotransferrin and vitamin D-binding protein were more expressed in the sera of naturally infected chickens compare with other groups. Our results suggested that the level of these two proteins in the serum may help to discriminate the naturally infected chicken from the vaccinated chicken.
Animals ; Chickens ; Conalbumin ; Electrophoresis ; Influenza in Birds ; Poultry ; Proteins ; Proteome ; Proteomics ; Specific Pathogen-Free Organisms ; Vaccination ; Viruses ; Vitamin D-Binding Protein

PURPOSE: The aim of this study was to investigate changes in bronchial hyperresponsiveness, total IgE, blood total eosinophil counts and serum eosinophil cationic protein (ECP), after treatment with inhaled corticosteroids or leukotriene modifiers in children with asthma. METHODS: Methacholine bronchoprovocation tests were repeated at 12 months of follow-up in 37 children with atopic asthma and eight children with non-atopic asthma, who regularly attended the Allergy Clinic of Korea University Anam Hospital and Seoul National University Hospital over one year from their initial visit. A serum total IgE, peripheral blood eosinophil counts, and serum ECP levels were measured on their initial visits and at 12 months of follow-up. RESULTS: Following six to 12 months of inhaled corticosteroids or leukotriene modifiers treatment, the geometric mean (range of 1 SD) of methacholine PC20 was significantly changed in the atopic asthma group [2.20 mg/mL (0.41-11.82) vs. 6.69 mg/mL (1.25-35.87), P=0.000] but not in non-atopic asthma group [2.41 mg/mL (0.90-6.42) vs. 2.46 mg/mL (0.62-9.78), P=0.065]. Blood total eosinophil counts and serum ECP levels decreased significantly over one year in atopic asthma, while these changes were not observed in non-atopic asthma. Significantly higher FEV1 %predicted values (98.3+/-6.6%) were noted at 12 month follow-up compareed to the initial values (92.9+/-11.4%, P=0.023) in the non-atopic asthma group. CONCLUSION: Inhaled corticosteroids or leukotriene modifiers treatment resulted in a significantly decreased bronchial hyperresponsiveness in children with atopic asthma. This effect was reflected primarily by reduced blood eosinophilic inflammation. The persistence of bronchial hyperresponsiveness in children with non-atopic asthma might be related with genetic factors or airway remodeling other than eosinophilic inflammation.
Adrenal Cortex Hormones ; Airway Remodeling ; Asthma* ; Child* ; Eosinophil Cationic Protein ; Eosinophils ; Follow-Up Studies ; Humans ; Hypersensitivity ; Immunoglobulin E ; Inflammation ; Korea ; Methacholine Chloride ; Seoul

Avian influenza (AI) virus infects both animal and human. Low pathogenic AI virus infections (some H7 and H9 subtypes) have been reported all over the world and pose a potential threat to the poultry industry. Vaccination is the most effective way to prevent virus infection. However, vaccination makes it difficult to differentiate between vaccinated chickens and infected chickens. In order to differentiate vaccinated chickens from naturally infected chickens, we adopted synthetic peptide-based enzyme-linked immunosorbent assay (ELISA) using the peptide sequences from nonstructural protein 1 (NS1) of H9N2. Five synthetic peptides were designed using Protein Variability Sever (http://imed.med.ucm.es/PVS/) and synthesized. NS1-1 ~ NS1-4 peptides failed to detect serum antibodies from both vaccinated and naturally infected chickens. NS1-5 peptide from the C-terminal NS1 protein detected serum antibody from naturally infected chickens but not vaccinated chickens. These results imply that NS1-5 peptide may be a useful tool to differentiate naturally infected chicken from vaccinated chicken as being used in the synthetic peptide-based ELISA.
Animals ; Antibodies ; Chickens ; Enzyme-Linked Immunosorbent Assay ; Humans ; Influenza in Birds ; Peptides ; Poultry ; Vaccination ; Viruses

PURPOSE: Asthma is one of the most common chronic childhood disease. Education of asthmatic children and their families about asthma and its management may improve disease control, reduce symptoms, and improve school performance. The aim of the study was to evaluate the effects of an intensive asthma education program in asthmatic children and their families on outcome measure of asthma management behavior scale, knowledge about asthma, self efficacy scale and quality of life. METHODS: Fifteen asthmatic children and their families were invited the intensive asthma education program which including allergen avoidance, management of asthma, correct use of the inhalation devices and control of exercise-induced asthma (study group). Fifteen asthmatic children and their families those who did not participate this program were served as control group. Participants were asked to complete a written questionnaire before and 3-month after the program. RESULTS: After completing the intensive education program, significant improvement of the childrens asthma management behavior scale (27.1 vs. 32.2, P=0.011), belief and knowledge about asthma (14.2 vs. 17.9, P<0.001), self efficacy (47.9 vs. 49.7, P=0.091) and quality of life (79.6 vs. 88.6, P<0.001) was noted in the study group by measuring questionnaires. There are increasing tendencies in parental asthma management behavior scale and knowledge about asthma. CONCLUSION: This intensive asthma education program is effective in improving asthma control, self efficacy and quality of life of asthmatic children. This should serve as a national model for family-based programs for asthmatic children and their families.
Asthma ; Asthma, Exercise-Induced ; Caregivers ; Child ; Disease Management ; Humans ; Nebulizers and Vaporizers ; Outcome Assessment (Health Care) ; Parents ; Patient Education as Topic ; Quality of Life ; Surveys and Questionnaires ; Self Efficacy

A 49-year-old female was admitted to our hospital for acute pancreatitis. The abdomen CT scan incidentally showed midline liver with hepatomegaly, centrally located gallbladder, pancreas truncation, right sided small bowel, left sided large bowel, interruption of the inferior vena cava with azygos continuation, preduodenal portal vein, and multiple spleens in the left upper quadrant. In MRCP, the head of pancreas was enlarged and short main pancreatic duct without accessory duct was showed. EUS revealed enlarged ventral pancreas with a main pancreatic duct of normal caliber, absence of the accessory pancreatic duct and the dorsal pancreas. She was diagnosed as polysplenia syndrome with agenesis of dorsal pancreas. It is a rare congenital anomaly frequently associated with various visceral anomalies including multiple spleens, impaired visceral lateralization, congenital heart diseases, gastrointestinal abnormalities and azygos continuation of the inferior vena cava. We report a case of polysplenia syndrome with agenesis of dorsal pancreas presenting acute pancreatitis.
Acute Disease ; Congenital Abnormalities/*diagnosis/ultrasonography ; Endosonography ; Female ; Heterotaxy Syndrome/*diagnosis/ultrasonography ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Pancreas/abnormalities/ultrasonography ; Pancreatitis/*diagnosis ; Tomography, X-Ray Computed

Occupational lung diseases are caused by several toxic substances including heavy metals; however, the exact pathologic mechanisms remain unknown. In the workplace, dental technicians are often exposed to heavy metals such as cobalt, nickel, or beryllium and occasionally develop occupational lung diseases. We described a case of occupational lung disease in a patient who was employed as a dental technician for over a decade. A 31-year-old, non-smoking woman presented with productive cough and shortness of breath of several weeks duration. Chest computed tomography revealed a large number of scattered, bilateral small pulmonary nodules throughout the lung field, and multiple mediastinal lymph nodes enlargement. Percutaneous needle biopsy showed multifocal small granulomas with foreign body type giant cells suggestive of heavy metals inhalation. The patient's condition improved on simple avoidance strategy for several months. This case highlighted the importance of proper workplace safety.
Adult ; Beryllium ; Biopsy, Needle ; Cobalt ; Cough ; Dental Technicians* ; Dyspnea ; Female ; Foreign Bodies* ; Giant Cells, Foreign-Body ; Granuloma ; Humans ; Inhalation ; Lung ; Lung Diseases ; Lymph Nodes ; Metals, Heavy ; Nickel ; Thorax