Ventricular repolarization is assessed using the QT interval corrected by the heart rate (QTc) via an electrocardiogram (ECG). Prolonged QTc is associated with an increased risk of arrhythmias and cardiac mortality. As there have been few reports regarding the effects of hyperthyroidism on ventricular repolarization, we studied the association between serum free thyroxine (free T4 [fT4]) and thyroid stimulating hormone... |
Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-old boy presented with clinical and laboratory abnormalities including hypocalcemia, hyperphosphatemia, PTH resistance, multihormone resistance and AHO (round face, short stature, obesity, brachydactyly... |
Purpose : Seizure associated with fever may indicate the presence of underlying inherited metabolic diseases. The present study was performed to investigate the presence of underlying metabolic diseases in patients with complex febrile seizures, using analyses of urine organic acids. Method : We retrospectively analyzed and compared the results of urine organic acid analysis with routine laboratory findings in 278... |
Purpose : The reinfection rate of H. pylori reported before 13C-urea breath test(13C-UBT) era was higher than that of the post 13C-UBT era. Children are usually reluctant to receive invasive endoscopic evaluation for the reinfection of H. pylori, particularly when they are asymptomatic. The aim of the study is to discover the reinfection rate by different diagnostic tests, and to... |
Purpose : We have done this retrospective study to know the relative incidence and clinical manifestations of organic acidopathies in Korea during 8 years(from Jul. 1997 to May 2005). This results of organic acid analysis of 1,787 patients were compared with the results of organic acid analysis that were published three years ago. Methods : The results of quantitative organic acid... |
Purpose : Febrile seizure, the most common seizure disorder in children between 6 months and 5 years of age, is mostly caused by viral infections, except severe CNS infection. It can also be caused by disorders in organic acid metabolism, especially accompanied by fever. Therefore we decided to investigate the relationship between children with febrile seizures and disorders in organic... |
Purpose : Since 1997, the quantification of organic acids in urine has become possible in Korea. This helped to diagnose a great variety of inborn errors of metabolism. However, we still don't know the normal value of organic acids in amniotic fluid, therefore it is impossible for doctors to make a correct diagnosis of inborn errors of metabolism in prenatal... |
Purpose : We have done this retrospective study to know the relative incidences and clinical manifestations of organic acidopathies in Korea. Methods : The results of quantitative organic acid analysis of 1,125 samples of 712 patients, referred from Jul. 1997 to Jun. 2000, were analyzed retrospectively according to four age groups (-2 mon, 3 mon-2 year, 3 years-12 years, over... |
β thalassemias are usually transmitted as autosomal recessive traits. However, some dominant forms of β thalassemia have been identified in individuals who have inherited a single copy of an abnormal β globin gene. Thalassemia intermedia with mild anemia, jaundice, and splenomegaly has been observed in these patients. Electrophoresis has shown elevated Hemoglobin(Hb) A2 and Hb F levels. In particular, there... |
Purpose : For the accurate diagnosis of organic acidopathies, quantification of urinary organic acid should be done and we should know the normal ranges of each organic acid excreted in the urine. The amount of organic acids excreted in the urine shows wide variability according to ethnic group, diet and age. We have quantified 82 organic acids to make a Korean reference value. Methods... |
Maple syrup urine disease is an autosomal recessive disease caused by a deficiency of the branched-chain α-ketoacid dehydrogenase complex. The disease is often suspected because of the peculiar odor of maple syrup in urine. Maple syrup urine disease is usually confirmed by amino acid analysis and urine organic acid analysis showing marked elevations of leucine, isoleucine, valine, and respective ketoacids in... |
Purpose : There are many methods for the evaluation of the renal function. The proximal tubule of the nephrons have a role of reabsorption of the materials such as water, electrolytes, glucose, amino acids, and small molecular weight protein through the glomerular filtration. Therefore if abnormality is in the proximal tubule, these materials can be changed both in serum & urine. It is very... |
Benign epilepsy of childhood with centrotemporal spikes(BECCT) is an electroclinical syndrome characterized by noctural seizure that remit spontaneouly before adulthood, and belong to idiopathic age and location related epilepsies. We reviewed the medical records to analyse the seizure pattern, and also inspect the EEG recording to identify topography of the epileptiform discharge of 24 patient who met the following criteria: 1)presence... |
Urinary tract anomaly is the most common anomaly in childhood. We reviewed medical records of 45 patients who were confirmed urinary tract anomalies on radiologic studies as Chuncheon Sacred Hospital, from Dec. 1984 to Sep. 1992. We analyzed incidence and clinical characteristics of urinary tract anomalies. The results obtained were as follows: 1) The age distrtibution were: 17 cases (37.8%) under... |
We examined the effect of various levels of dietary protein on long term prognosis of Adriamycinephropathy of S-D rat, fed with high protein(30%), intermediately low(10%), and strictly low(5%) protein diet for 15 weeks 1) In rats fed with strictly low protein diets(5%), proteinuria and serum creatinine decreased and creatinine clearance and histological changes were relatively well preserved. But hypoproteinmia and weight... |
We experienced a extremely rare case of Stein-Leventhal Syndrome in 7 year-old female patient. Her chief complaints was severe obesity. We performed specific radiologic and hormonal studies. Diagnosis was suspected by pelvic sono and CT. We performed vertical gastroplasty with Taplon bandage for morbid obesity. A brief review of related literature was made. |
We observed a case of lamellar ichthyosis who was 4 day-old boy with the chief complaints of poor feeding, exessive lamellated scale covering entire body. Diagnosis of lamellar ichthyosis was estab- lished by clinical features and histopathological study. A brief review of literature was made. |
Congenital cystic adenomatoid malformation is a rare variant of pulmonary cystic disease char- acterized by a mass of cysts lined by proliferating bronchial or cuboidal epithelium. The onset of symptoms, which are cyanosis, and tachypnea, usually occurs during the first week of life. We have experienced a case of congenital cystic adenomatoid malformation in a 9 month-old female. The diagnosis was mady by chest... |
We experienced one case of rickettsia typhi. This 6 years old male was admitted to Sacred Heart Hospital because of fever, Headache and myalgia for 10 days. Physical examination showed him to have injection of throat, dry lips with no skin rash. In the laboratory findings, the CSF showed cell count 22/mm3and suger and protein were with in normal limit. In peripheral blood smear, moderate left... |
Intussusception is an invagination of a segment of the gastrointestinal tract into an adjacent segment. It is the most common cause of acquired intestinal obstruction during infancy and early childhood. We compared the results of treatment with Barium Enema in 33 cases with that of Controlled Air Insufflation in 31 cases from January, 1985 to December, 1987. The results were as follows: 1) In age incidence, 86%... |