Neonatal diabetes mellitus (NDM) is defined as hyperglycemia that presents clinical symptoms within the first month of life and requires insulin therapy to maintain euglycemia. The diabetic condition may be transient, permanent, or transient with recurrence later in life. NDM is a rare clinical disorder. Three cases of NDM have been reported in Korea so far. We experienced two cases of NDM in twin brothers who were born with small for gestational ages. Their HLA typings were DR9 and DR14, and insulin autoantibody, islet cell antibody, GAD-reactive autoantibody, and insulin receptor antibody were not found. The genetic analysis with polymorphic DNA markers for chromosome 6 indicated paternal uniparental isodisomy.
Chromosomes, Human, Pair 6 ; Diabetes Mellitus* ; Genetic Markers ; Gestational Age ; Histocompatibility Testing ; Humans ; Hyperglycemia ; Insulin ; Islets of Langerhans ; Korea ; Receptor, Insulin ; Recurrence ; Siblings* ; Twins* ; Uniparental Disomy

Erythropoietic protoporphyria (EPP), caused by decreased activity of the enzyme ferrochelatase, is characterized clinically by burning photosensitivity beginning from childhood, and chemically by excessive amounts of red blood cell protoporphyrins. 1-10% of EPP patients develop potentially fatal protoporphyric hepatic failure. The diagnosis of EPP had been missed in many cases when traditional solvent extraction qualitative screening test was used for blood porphyrins, and use of fluorescence microscopy improved this problem. We report a case of EPP screened by fluorescence microscopy of erythrocytes in a 50-year-old man complaining of photosensitivity. We recommend fluorescence microscopy could be the screening test of choice for the detection of increased red blood cell porphyrins.
Burns ; Diagnosis ; Erythrocytes ; Ferrochelatase ; Fluorescence* ; Humans ; Liver Failure ; Mass Screening ; Microscopy, Fluorescence* ; Middle Aged ; Porphyrins ; Protoporphyria, Erythropoietic* ; Protoporphyrins

PURPOSE: To describe the current status of airway management for trauma patients in the emergency department (ED) and to evaluate the success rate and associated factors for selecting the Glidescope video laryngoscope. METHODS: This was a retrospective observational study of prospectively collected data from the Koran Emergency Airway Management Registry in two university hospitals between April 2006 and March 2010. The study population included all trauma patients presenting at the ED who required emergency airway management. Demographic and airway related parameters were collected. The success rate was compared between the Glidescope and the direct laryngoscope. Factors associated with selecting the Glidescope were analyzed using multiple logistic regression. RESULTS: Among the 1,974 patients who received airway management in the ED during the study period, 341 were identified as trauma patients. The Glidescope was used in 130 (38%) of the patients. Difficult airway was identified in 46.9% of the Glidescope group compared with 22.6% in the direct laryngoscope group (p<0.001). Success rate on the first attempt was not different between the direct laryngoscope and the Glidescope. The Glidescope was selected in favor of cervical immobilization, difficult airway, and senior grade resident. CONCLUSION: Among intubated patients in the ED, trauma patients accounted for 17.6%. The Glidescope video laryngoscope was selected in 38% of cases. It was usually used in cases of difficult airway such as cervical immobilization by senior grade residents.
Airway Management ; Emergencies ; Hospitals, University ; Humans ; Immobilization ; Intubation, Intratracheal ; Laryngoscopes ; Logistic Models ; Prospective Studies ; Retrospective Studies

Interstitial lung disease refers to a group of pulmonary disorders characterized by inflammation of the interstitium, derangements and loss of alveolar capillary units leading to disruption of alveolar gas exchange, which induces symptoms of restrictive lung disease. Cases of interstitial pneumonia in children are uncommon and mostly have unknown causes. We have experienced an 8-year old boy who had symptoms of cyanosis, dry cough, dyspnea and abrupt weight loss. He had not been exposed to organic dusts, allergens or any other systemic disease infections. Chest radiology showed diffuse ground glass opacity in both lung fields. High resolution computed tomography(HRCT) showed multiple small patchy areas of consolidation with an underlying ground glass appearance in both lungs. The pathologic findings of lung biopsy tissue showed patchy areas of interstitial fibrosis, alveolar obliteration and nodular fibrotic areas, strongly suggesting interstitial pneumonia. No specific finding of viral inclusion or any other evidence of infection was found under electromicroscopy. We used peak flow meters to compare functional improvement. Forced expiratory volume in one second (FEV1) was decreased to 25 percent of predicted value. The boy was given treatment with prednisone and showed improvements in HRCT findings after two months. He was able to tolerate easy exercise in school and showed clinical improvements after one year of follow up.
Allergens ; Biopsy ; Capillaries ; Child ; Cough ; Cyanosis ; Dust ; Dyspnea ; Fibrosis ; Follow-Up Studies ; Forced Expiratory Volume ; Glass ; Humans ; Idiopathic Interstitial Pneumonias* ; Inflammation ; Lung ; Lung Diseases ; Lung Diseases, Interstitial ; Male ; Prednisone ; Thorax ; Weight Loss

PURPOSE: Acute respiratory tract infections are the most common illnesses in children. The great majority of these infections involving lower respiratory tracts infections(LRTIs) are caused by respiratory viruses such as respiratory syncytial virus(RSV), parainfluenza virus(PIV), influenza virus (Flu), and adenovirus(ADV), etc. Our purpose was to determine seasonal epidemiology and clinical characteristic features of each viral infection. METHODS: Nasopharyngeal aspirate(NPA)s were collected from 4,554 hospitalized children diagnosed as LRTIs on the first day of admission. The study period was from September 1998(Autumn) through May 2003(Spring). Respiratory viruses were detected in 881(19 percent) cases by isolation of the virus or by antigen detection method using indirect immunofluorescent staining. We reviewed the medical records of 837 cases retrospectively. RESULTS: The identified pathogens were RSV in 485 cases(55 percent), PIV in 152 cases(17 percent), FluA in 114 cases(13 percent), ADV in 79 cases(9 percent) and FluB in 51 cases(6 percent). Outbreaks of RSV occurred every year, mostly in the November through December period and of PIV in the April through June period. LRTIs by FluA reached the highest level in January, 2002. FluB infection showed an outbreak in April, 2002. The clinical diagnoses of viral LRTIs were bronchiolitis in 395 cases(47 percent), pneumonia in 305 cases(36 percent), croup in 73 cases(9 percent) and tracheobronchitis in 64 cases(8 percent). CONCLUSION: Viruses are one of the major etiologic agents of acute LRTIs in chidren. Therefore, we must continue to study their seasonal occurrence and clinical features to focus on management, and also for reasons of prevention.
Adenoviridae ; Bronchiolitis ; Child ; Child, Hospitalized ; Croup ; Diagnosis ; Disease Outbreaks ; Epidemiology* ; Humans ; Medical Records ; Orthomyxoviridae ; Paramyxoviridae Infections ; Pneumonia ; Respiratory Syncytial Viruses ; Respiratory System* ; Respiratory Tract Infections* ; Retrospective Studies ; Seasons

Peroxiredoxin I (Prx I) is a member of the peroxiredoxins (Prxs) family, which are antioxidant enzymes that regulate various cellular process via intracellular oxidative signal pathways. In order to investigate the correlation between Prx I and the gamma-secretase complex, which causes Alzheimer's disease (AD), the expression level of Prx I was firstly evaluated in an animal model for AD. NSE/hPen-2 transgenic (Tg) mice, which were used as animal model in this study, showed a high level of Pen-2 expression and accumulation of Abeta-42 peptides in the hippocampus of brain. The expression level of Prx I was significantly higher on the mRNA and protein level in the brain of this model, while not change in Prx VI expression was observed. Furthermore, to verify the effect of Prx I on the gamma-secretase components in vitro, the expression level of these components was analyzed in the Prx I transfectants. Of the components of the gamma-secretase complex, the expression of PS-2 and Pen-2 was lower in the transfectants overexpressing Prx I compared to the vector transfectants. However, the expression of APP, NCT and APH-1 did not change in Prx I transfectants. Therefore, these results suggested that the expression of Prx I may be induced by the accumulation of Abeta-42 peptides and the overexpression of Prx I in neuroblastoma cells may regulate the expression of gamma-secretase components.
Alzheimer Disease ; Amyloid Precursor Protein Secretases ; Animals ; Brain ; Hippocampus ; Humans ; Mice ; Models, Animal ; Neuroblastoma ; Peptides ; Peroxiredoxins ; RNA, Messenger ; Signal Transduction