Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondroplasia, characterized by delayed development of the ossification centers and, deformities of the extremities that involve only the epiphysis and result in mild short stature. Mutations in the cartilage oligomeric matrix protein (COMP) gene are most commonly found, and most of the mutations are located in the calmodulin-like repeats and the C-terminal domain. We report a Korean kindred of?12 family members with MED in four generations who were found to have a novel mutation in the COMP gene. A pedigree showed early onset osteoarthritis requiring arthroplasty that was an autosomal dominant inherited trait. Radiological examinations demonstrated the presence of osteochondral defects in the medial femoral condyles, and the knee and hip joints showed variable degrees of precocious degenerative changes. Mutation analysis of the COMP gene in the proband and five other affected family members identified a novel missense mutation, c.1280G>C (p.Gly427Ala) in exon 12, which was not found in three unaffected family members. Direct sequencing of the COMP gene may yield pathogenic mutations in dominantly inherited MED cases, and may provide opportunities of carrier detection among high-risk family members, leading to genetic counseling for early diagnosis and intervention before the onset of complications.
Achondroplasia ; Arthroplasty ; Cartilage ; Congenital Abnormalities ; Early Diagnosis ; Epiphyses ; Exons ; Extracellular Matrix Proteins ; Extremities ; Family Characteristics ; Genetic Counseling ; Glycoproteins ; Hip Joint ; Humans ; Knee ; Mutation, Missense ; Osteoarthritis ; Osteochondrodysplasias ; Pedigree

The causes of the chylothorax can be classified to the congenital cases, such as the atresia of thoracic duct and thoracic duct-pleura fistula, and the acquired ones, such as thoracic surgery, trauma, malignant disease, venous thrombosis, infection and so on. We experienced a case of left chylothorax in a 10-year-old girl with a lymphangiomatosis of left thorax extending from axillar to buttock. She first received the two weeks of conservative management, which was unsuccessful to subside the chylothorax. Then she was taken the partial pleurectomy and chemical pleurodesis under the thoracoscopy as a surgical intervention, but this is also insufficient to reduce the chylous effusion. Finally she received 10 times of radiotherapy on left thorax, then the chylothorax is controlled completely.
Buttocks ; Child ; Chylothorax* ; Female ; Fistula ; Humans ; Pleurodesis ; Radiotherapy* ; Thoracic Duct ; Thoracic Surgery ; Thoracoscopy ; Thorax* ; Venous Thrombosis

BACKGROUND: There are many factors such as diffusion abnormality, V/Q mismatch, intrapulmonary shunt, alveolar hypoventilation and FIO2 in reducing arterial hypoxemia. Intrapulmonary shunting can be due to blood going from the right to the left side of the heart without respiring with alveolar gas(true shunt mechanism) or blood that respires but achieves a PaO2 less than the ideal (shunt effect mechanism). Understanding the portion of true shunt in patients with hypoxemia is very important indicator to analyze the effects of oxygen therapy. Several equations are used for calculation of physiologic shunt. The aim of this study was to calculate and compare shunts derived from four shunt equations; classic physiologic, estimated, modified clinical and simple equations. METHOD: After cardiovascular stability following open heart surgery, 40 patients were mechanically ventilated with an FIO2=1.0. Arterial and mixed blood gases were measured. We calculated and compared shunts by classic physiologic [S/T=(CcO2 CaO2)/(CcO2 CO2)], estimated [S/T=(CcO2 CaO2)/ (3.5 CcO2 CO2)], modified clinical [S/T= AaDO2 0.0031/(AaDO2 0.0031 CcO2 CaO2)], and simple equations [S/T=AaDO2/20]/ RESULTS: Shunts by classic physiologic, estimated, and modified clinical shunt equation were 26.9 8.5%, 25.1 7.1%, and 26.3 8.2%, respectively and did not differ one another significantly. Shunts by simple shunt equations was 18.8 6.2% and significantly lower than those by other 3 equations(P<0.05). CONCLUSIONS: It is reasonable to conclude that in post-open heart patients with stable cardiovascular function and mechanically ventilated with an FIO2=1.0, classic physiologic, estimated, and modified clinical shunt equations show a reliable reflection of the physiologic shunt. But simple equation (AaDO2/20) might be used as a simple estimate.
Anoxia ; Diffusion ; Gases ; Heart ; Humans ; Hypoventilation ; Oxygen ; Thoracic Surgery

Objective: We compared the osteoblastogenesis by serially administrating recombinant human bone morphogenetic protein-2 (rhBMP-2) and osteoprotegerin-immunoglobulin Fc segment complex (OPG-Fc). Methods: The MC3T3-E1 preosteoblast cell line was differentiated for 1, 3, and 7 days with a treatment of OPG-Fc in 10~200 ng/mL concentration and the cell viability was evaluated by Cell Counting Kit-8 analysis. The level of differentiation from MC3T3-E1 cells to osteoblasts was determined by alkaline phosphatase activity. The level of runt domain-containing transcription factor 2 (Runx2) and osteopontin (OPN) manifestation, involved in osteoblast differentiation, was examined by real-time polymerase chain reaction and western blotting. Results: During MC3T3-E1 cell differentiation, the differentiation level was high with 1-day treatment using 100 ng/mL OPGFc. The treatment with 50 ng/mL rhBMP-2 for 7 days, followed by 1-day treatment with 100 ng/mL OPG-Fc produced the highest differentiation level, which was approximately 5.3 times that of the control group (p<0.05). The expression of Runx2 mRNA significantly increased, reaching 2.5 times the level of the control group under the condition of 7-day treatment with rhBMP-2 and 1-day treatment with OPG-Fc (p<0.001). The expression of Runx2 protein significantly increased to approximately 5.7 times that of the control group under the condition of 7-day treatment with rhBMP-2, followed by 1-day treatment with OPG-Fc (p<0.01).The expression of OPN protein showed no change from that of the control group under various conditions of rhBMP-2 and OPGFc combinations. Conclusion These results imply that the treating preosteoblasts with rhBMP-2 first and then with OPG-Fc increased osteoblast differentiation efficacy.

An atrial septal aneurysm is well recognized abnormality of uncertain clinical relevance. An intraatrial aneurysm was demonstrated in the fossa ovalis of a 41-year-old woman who suffered an episode of cerebellar infarction with recurrent atrial fibrillation. The disorder is rarely treated surgically. Most patients with this condition are given life-long anticoagulation, a treatment that may have serious complications. We report a rare case of atrial septal aneurysm with recurrent atrial fibrillation and cerebellar infarction which receiving an appropriate diagnosis and curative treatment.
Adult ; Aneurysm* ; Atrial Fibrillation* ; Diagnosis ; Female ; Humans ; Infarction*

BACKGROUND/AIMS: We aimed to investigate the prevalence and possible causes of hypouricemia in the Korean population and to compare our findings with published results of other populations. METHODS: We examined the serum uric acid levels of 30,757 subjects who had their uric acid values measured at least once during a 1-year period. All individuals with hypouricemia (serum uric acid < 2.0 mg/dL, n = 424) were reviewed with respect to medical drug history and concomitant diseases previously identified as being associated with hypouricemia. RESULTS: The prevalence of hypouricemia was 4.14% (299/7,223) among inpatients and 0.53% (125/23,534) among outpatients, for an overall prevalence of 1.39% (424/30,757). Possible causes associated with hypouricemia were found to be solid or hematologic malignancies (n = 86), diabetes mellitus (n = 56), and therapeutic drugs (n = 29). The medications were allopurinol (n = 11), angiotensin II receptor blockers (n = 10), salicylates (n = 6), febuxostat (n = 1), and warfarin (n = 1). In the remaining 226 individuals, the cause of hypouricemia was not identified. CONCLUSIONS: Hypouricemia is relatively common in the Korean population compared to those of other countries. The possible causes associated with hypouricemia are related to underlying diseases and medications.
Allopurinol ; Angiotensin Receptor Antagonists ; Diabetes Mellitus ; Febuxostat ; Hematologic Neoplasms ; Humans ; Inpatients ; Outpatients ; Prevalence* ; Salicylates ; Tertiary Healthcare* ; Uric Acid ; Warfarin

Although previous studies revealed the association of physical activity with mortality rate, it is unclear whether there is a linear trend between physical activity and mortality rate. In this study, the association of physical activity with the risk of all-cause mortality was analysed using Cox's proportional hazard model for a cohort of 14,204 healthy Korean men aged 40-59 years followed up for 4 years(Jan. 1993 - Dec. 1996). Physical activity and other life style were surveyed by a postal questionnaire in December 1992. Total of 14,204 subjects were grouped into quartiles by physical activity. Using death certificate data, 123 deaths were identified. The second most active quartile had a lowest mortality rate with relative risk of 0.44(95% C.I.: 0.23-0.84) compared with most sedentary quartile, showing a J-shape pattern of physical activity-mortality curve. By examining the difference in proportion of cause of the death between most active quartile and the other quartiles, there was no significant difference of proportional mortality from cardiovascular deaths, cerebrovascular deaths or deaths from trauma. The covariates were stratified into two group between which the trend of RR was compared to test the effect modification. There was no remarkable effect modification by alcohol intake, smoking, body mass index, calorie consumption, percent fat consumption. In conclusion, moderate activity was found to have more protective effect on all-cause mortality than vigorous activity and that the J-shape pattern of physical activity-mortality curve was not due to the difference of mortality pattern or effect modification by alcohol intake, smoking, body mass index, calorie consumption and percent fat consumption.
Body Mass Index ; Cohort Studies* ; Death Certificates ; Humans ; Life Style ; Male ; Mortality* ; Motor Activity* ; Proportional Hazards Models ; Surveys and Questionnaires ; Seoul* ; Smoke ; Smoking

We experienced a case of partial DiGeorge syndrome in a 35+5 week premature female infant presented with micrognathia, fish-shaped mouth, beaked nose, nasal regurgitation, obstructive sleep apnea, velopharyngeal insufficiency and late onset hypocalcemic seizures. The chromosome 22q11 microdeletion was found by the FISH method. The lab findings showed serum calcium level of 4.4 mg/dL, ionized calcium level of 0.49 mg/dL, phosphorous level of 7.5 mg/dL, magnesium level of 1.3 mg/dL and PTH-RIA level of <1 pq/mL. Initial treatment was done with 10% calcium gluconate infusion and magnesium sulfate followed by oral calcium gluconate and low phosphorous- formula milk feeding. The serum calcium level was normalized in 6 days. Nasal regurgitation, desaturation with obstructive sleep apnea continued. T-cell functions and numbers(CD 3, CD 4, CD 8)were decreased but Ig G/A/M levels were normal. No visible signs of thymus shadow were seen in either chest X-ray and chest MRI. Electrocardiography and echocardiography showed normal heart. Kidney ultrasonographby showed right side mild hydronephrosis. Neurosonography was normal but EEG showed electrical partial seizure. Hearing assessment by BERA showed mild to moderate hearing impairment. Velopharyngoplasty is scheduled for further treatment. A brief review of literature was made.
Animals ; Beak ; Calcium ; Calcium Gluconate ; DiGeorge Syndrome* ; Echocardiography ; Electrocardiography ; Electroencephalography ; Female ; Hearing ; Hearing Loss ; Heart ; Humans ; Hydronephrosis ; Infant ; Kidney ; Magnesium ; Magnesium Sulfate ; Magnetic Resonance Imaging ; Milk ; Mouth ; Nose ; Seizures ; Sleep Apnea, Obstructive ; T-Lymphocytes ; Thorax ; Thymus Gland ; Velopharyngeal Insufficiency

Cadmium ; Cell Line ; Cell Line, Transformed ; Cell Survival ; Chromium ; Heat-Shock Proteins ; HSP27 Heat-Shock Proteins ; Ions ; Molecular Chaperones ; Osteoblasts ; Osteogenesis ; Titanium

Animals ; Bone Regeneration ; Brain ; Connective Tissue ; Extracellular Matrix ; Fibronectins ; Humans ; Mesenchymal Stromal Cells ; Mice ; Mice, SCID ; Mice, Transgenic ; Models, Animal ; Neurons ; Osteoblasts ; Osteogenesis ; Publications ; Rats ; Stem Cells ; Tissue Donors