Cleft lip and/or palate(CLP) is the most common congenital deformity in the craniofacial region. For a practical public health system for these patients it is necessary to have an understanding on the prevalence of CLP. However, it was difficult to estimate the exact number of CLP patients due to problems in sample selection, higher miscarriage and still birth rate, difficulty in classification, and adoptions to foreign countries. Therefore this study was to estimate the prevalence of CLP and the rate of orthodontic treatment, which is usually necessary in cleft lip and/or palate patients. The samples consisted of 218,322 Korean male adults from Seoul, Kwangju, Taegu and Pusan, all born in 1979. The screening method for recognizing the CLP patients was proceeded in steps and the results are as follows. 1. The prevalence of cleft lip and/or palate in Korean male adults born in 1979 was 0.65 out of the 1000 samples. 2. In the anteroposterior aspect of the 1000 samples, the prevalence of cleft lip, cleft lip and palate, and cleft palate was 0.26, 0.36 and 0.03 respectively. 3. In the transverse aspect of the 1000 samples, the prevalence of left, right and bilateral cleft was 0.35, 0.16, 0.12 respectively. The cleft in the left showed a much higher prevalence than in the right, while bilateral cleft showed a lower prevalence than unilateral cleft. 4. The orthodontic treatment rate of Korean male adults among cleft lip and/or palate patients was 35%, and it was in the order of cleft lip and palate, cleft lip, and cleft palate, being 67%, 29% and 29% respectively. The orthodontic treatment rate in patients with the more severe cleft lip and palate was higher than in patients solely having cleft lip or cleft palate.
Abortion, Spontaneous ; Adult* ; Birth Rate ; Busan ; Classification ; Cleft Lip* ; Cleft Palate* ; Congenital Abnormalities ; Daegu ; Female ; Gwangju ; Humans ; Lip ; Male* ; Mass Screening ; Palate ; Pregnancy ; Prevalence* ; Public Health ; Seoul

We report a case of spontaneous bilateral intracranial vertebral artery dissecting aneurysms with subarachnoid hemorrhage. One dissecting lesion was treated with a coronary balloon-mounted stent (BMS) technique; however, due to differences in access route tortuosity, the other lesion was treated with a self-expandable stent (SES) technique. After 2 months, the angiographic outcome showed complete healing of the dissected segment on the side that was treated with BMS; in contrast, the dissection lesion appeared to be re-growing on the side that was treated with SES. Complete treatment of the aggravated lesion was achieved by additional deployment of BMSs. Therefore, we have provided a discussion of the possible reasons for this difference in outcome according to the stent type.
Aneurysm ; Aneurysm, Dissecting ; Stents ; Subarachnoid Hemorrhage ; Vertebral Artery ; Vertebral Artery Dissection

We report a case of spontaneous bilateral intracranial vertebral artery dissecting aneurysms with subarachnoid hemorrhage. One dissecting lesion was treated with a coronary balloon-mounted stent (BMS) technique; however, due to differences in access route tortuosity, the other lesion was treated with a self-expandable stent (SES) technique. After 2 months, the angiographic outcome showed complete healing of the dissected segment on the side that was treated with BMS; in contrast, the dissection lesion appeared to be re-growing on the side that was treated with SES. Complete treatment of the aggravated lesion was achieved by additional deployment of BMSs. Therefore, we have provided a discussion of the possible reasons for this difference in outcome according to the stent type.
Aneurysm ; Aneurysm, Dissecting ; Stents ; Subarachnoid Hemorrhage ; Vertebral Artery ; Vertebral Artery Dissection

Pompe disease is a genetic disorder caused by a deficiency of acid alpha-glucosidase (GAA). Infantile onset Pompe disease is uniformly lethal. Affected infants generally present in the first few months of life with hypotonia, generalized muscle weakness, and a hypertrophic cardiomyopathy, which is rapidly followed by death, usually by the age of one. The late-onset form is characterized less severe symptoms and prognosis. Therapy for Pompe disease is intended to directly address the underlying metabolic defect via intravenous infusions of recombinant human GAA to replace the missing enzyme. We report a case of atypical infantile-onset Pompe disease that presented symptoms in infancy but had less severe clinical manifestations and improved after GAA enzyme replacement (Myozyme(R), Genzyme Co., MA, USA) therapy. It is very important that pediatricians become aware of signs and symptoms of Pompe disease, such as a nasal voice or a waddling gait at an early stage so that these patients can benefit from appropriate GAA replacement therapy as soon as possible.
alpha-Glucosidases ; Cardiomyopathy, Hypertrophic ; Enzyme Replacement Therapy* ; Gait ; Glycogen Storage Disease Type II* ; Humans ; Infant ; Infusions, Intravenous ; Muscle Hypotonia ; Muscle Weakness ; Prognosis ; Voice

BACKGROUND/AIMS: To evaluate the therapeutic outcomes of the endoscopic submucosal dissection (ESD) technique for the treatment of gastric subepithelial tumors (SETs). METHODS: A systematic literature review was conducted using the core databases. Data on the complete resection rates and the procedure-related perforation rates were extracted and analyzed. A random effects model was then applied for this meta-analysis. RESULTS: In all, 288 patients with 290 SETs were enrolled from nine studies (44 SETs originated from the submucosal layer; 246 SETs originated from the muscularis propria layer). The mean diameter of the lesions ranged from 17.99 to 38 mm. Overall, the pooled complete resection rate was estimated to be 86.2% (95% confidence interval [CI], 78.9 to 91.3). If the analysis was limited to the lesions that originated from the submucosal layer, the pooled complete resection rate was 91.4% (95% CI, 77.9 to 97). If the analysis was limited to the lesions that originated from the muscularis propria, the pooled complete resection rate was 84.4% (95% CI, 78.7 to 88.8). The pooled procedure-related gastric perforation rate was 13% (95% CI, 9.4 to 17.6). Sensitivity analyses showed consistent results. Finally, publication bias was not detected. CONCLUSIONS: ESD, including endoscopic muscularis dissection, is a technically feasible procedure for the treatment of SETs. However, selection bias is suspected from the enrolled studies. For the development of a proper indication of ESD for SETs, further studies are needed.
Gastrointestinal Stromal Tumors ; Humans ; Publication Bias ; Selection Bias

PURPOSE: To evaluate myocardial conductivity to understand cardiac involvement in patients with mitochondrial disease. METHODS: We performed retrospective study on fifty-seven nonspecific mitochondrial encephalopathy patients with no clinical cardiac manifestations. The patients were diagnosed with mitochondrial respiratory chain complex defects through biochemical enzyme assays of muscle tissue. We performed standard 12-lead electrocardiography (ECG) on all patients. RESULTS: ECG abnormalities were observed in 30 patients (52.6%). Prolongation of the QTc interval (>440 ms) was seen in 19 patients (33.3%), widening of the corrected QRS interval in 15 (26.3%), and bundle branch block in four (7.0%). Atrioventricular block, premature atrial contraction and premature ventricular contraction were seen in two patients each (3.5%) and Wolff-Parkinson-White syndrome in one patient (1.8%). CONCLUSION: Given this finding, we recommend active screening with ECG in patients with mitochondrial disease even in patients without obvious cardiac manifestation.
Atrial Premature Complexes ; Atrioventricular Block ; Bundle-Branch Block ; Child ; Electrocardiography ; Electron Transport ; Enzyme Assays ; Heart ; Humans ; Mass Screening ; Mitochondria ; Mitochondrial Diseases ; Mitochondrial Encephalomyopathies ; Muscles ; Retrospective Studies ; Ventricular Premature Complexes ; Wolff-Parkinson-White Syndrome

Small cell carcinoma is a malignant neoplasm, which has neuroendocrine and epithelial features immunohistochemically and ultrastructurally. Primary small cell carcinoma originating from the kidneys is extremely rare, aggressive and lethal. Approximately half the reported cases show combined features of transitional cell carcinoma. A case of primary renal small cell carcinoma without features of transitional cell carcinoma is reported, which was studied under light microscopy and by immunohistochemistry and treated by retroperitoneal laparoscopic radical nephrectomy and chemotherapy.
Carcinoma, Small Cell* ; Carcinoma, Transitional Cell ; Drug Therapy ; Immunohistochemistry ; Kidney* ; Microscopy ; Nephrectomy

PURPOSE: Blepharoptosis is often associated with telecanthus and the presence of epicanthal fold in telecanthus is one of unique features in Asian eyelids. The purpose of this article is to define telecanthus and pseudotelecanthus, and to determine optimal surgical procedure depending on classification of telecanthus. METHODS: Among 187 patients with blepharoptosis who had the advancement procedure of the Muller's muscle-levator aponeurosis composite flap for ptosis, 55 patients underwent Flowers' split V-W plasty concomitantly with shortening the medial canthal tendon for correction of telecanthus from September 2003 to January 2011. Among them, 52 patients were followed up for 16 months. We newly defined telecanthus because Mustarde ratio is inaccurate to measure in certain cases and then made a definition of pseudotelecanthus. Besides, we also classified telecanthus into mild, moderate and severe types based on its severity. RESULTS: Telecanthus is defined when the ICD (inner canthal distance) is greater than 110% of normal ICD. Pseudotelecanthus is a telecanthus like a wide skin bridge formed between the eyes because of the epicanthal fold in the normal ICD. Flowers' split V-W plasty combined with shortening medial canthal tendon was very effective in mild and moderate telecanthus with almost invisible scar and no recurrence occurring. In severe types, however, it showed high incidence (28%) of incomplete correction of telecanthus. CONCLUSION: New definition of telecanthus can be easily applied to any case and we think the classification of telecanthus is useful to select an appropriate operative procedure. Split V-W plasty with shortening of medial canthal tendon is a very effective procedure in mild and moderate telecanthus. Besides, it is also effective in improving the treatment outcomes of ptosis in cases of blepharoptosis associated with telecanthus.
Asian Continental Ancestry Group ; Blepharoptosis ; Cicatrix ; Craniofacial Abnormalities ; Eye ; Eyelids ; Humans ; Incidence ; Mustard Plant ; Recurrence ; Skin ; Surgical Procedures, Operative ; Tendons

PURPOSE:It is well known that childhood obesity associated with high morbidity of hyperlipidemia, hypertension, fatty liver and type 2 diabetes mellitus. Recently investigators have revealed that hyperinsulinemia in obese children is related with not only insulin resistance but also hyperlipidemia and fatty liver. We investigated the relationship between fasting insulin level and comorbidities of childhood obesity. Also we determined the prevalence of asymptomatic fatty liver and presumed nonalcoholic steatohepatitis and to assess the correlation of fatty liver with degree of obesity and serum insulin level. METHODS:We measured fasting serum insulin in 300 obese children (obesity index greater than 20 percent), from 8 to 15 years old age and blood pressure, fasting serum glucose and lipid profiles were also checked. Fatty liver was diagnosed by liver function test and abdominal ultrasonography. The correlations of insulin with BMI, blood pressure and lipid profiles were analyzed by linear regression. The prevalences of hypertension, hyperlipidemia and fatty liver were compared according to fasting insulin level. RESULTS:Mean obesity index of obese children was 35.26 (37.01 in male, 31.61 in female). Mean body mass index of obese children was 26.15 kg/m2 (26.72 kg/m2 in male, 24.98 kg/m2 in female). Among obese children, 87 children had hypercholesterolemia (>or=200 mg/dL, 28.9%), 60 children had hypertriglyceridemia (>or=150 mg/dL, 20.0%), 128 children had fatty liver (42.7%) and 139 children had hyperinsulinemia (46.6%). Serum insulin level had positive correlation with body mass index (r=0.274, P>0.01), systolic blood pressure (r=0.291, P<0.01), serum triglyceride (r=0.339, P<0.01) and not with serum total cholesterol. The prevalences of hypertriglyceridemia and fatty liver were higher in obese children with hyperinsulinemia than with normal insulin level (P<0.01). The severity of fatty liver was positively related to BMI, obesity index, triglyceride, insulin, HOMA. Fatty liver with elevated ALT was found in 40 subjects (13.3%). CONCLUSION: In this study, fasting insulin level had closely related with dyslipidemia and fatty liver in obese children. Our results suggest that monitoring of insulin level is helpful to assess the morbidities and should become a part of routine care of obese children.
Adolescent ; Blood Glucose ; Blood Pressure ; Body Mass Index ; Child* ; Cholesterol ; Comorbidity* ; Diabetes Mellitus, Type 2 ; Dyslipidemias ; Fasting* ; Fatty Liver ; Humans ; Hypercholesterolemia ; Hyperinsulinism ; Hyperlipidemias ; Hypertension ; Hypertriglyceridemia ; Insulin Resistance ; Insulin* ; Linear Models ; Liver Function Tests ; Male ; Obesity ; Pediatric Obesity* ; Prevalence ; Research Personnel ; Triglycerides ; Ultrasonography

Guanine aminohydrolase (GAH; Guanine deaminase, EC 3.5.4.3) is an enzyme that has a role in purine catabolism. This enzyme produces xanthine and ammonia by hydrolysis of guanine, and xanthine is further degraded to uric acid and hydrogen peroxide by another enzyme, xanthine oxidase. Most of the enzymes involved in purine catabolism have been studied for their biological functions, physiological roles and amino acid sequences, and biochemical activity of GAH is known to be detected in various organs such as liver, kidney, small intestine and brain. Its activity is also known to be changed during brain development. In this study, we hoped to reveal expression pattern of GAH in developing rat brain by western blotting and immunohistochemistry. In western blotting, GAH immunoreactivity was not detected on 14-, 16- and 18-days-old fetal rat brains. Its reactivity was first detected from 20-days-old fetal rat brain and highly increased after birth. And it was maintained at steady level from 2 weeks after birth. In immunohistochemistry, no positive cells were found on 14- and 16-days-old fetal rat brain sections. A few GAH-immunoreactive cells appeared from 18-days-old fetal rat brain and they were localized at olfactory bulb, cerebral cortex, midbrain, pons and medulla. The 20-days-old fetal rat brain also showed immunoreactive cells at hippocampus and the staining intensity was still weak. Postnatal 2-days-old rat brain also showed immunoreactive cells at basal ganglia and the number of positive cells and staining intensity were increased. Thereafter, immunoreactivity appeared on many neuronal cells around various areas in the brain and nerve fibers also showed reactivity on postnatal brains. The number of positive cells decreased from 1 week after birth and a few positive cells were observed on olfactory bulb and cerebellum from 2 weeks after birth. In mature brain most of GAH were localized on nerve fibers and few positive cells could be found on olfatory bulb only. From these, we can suspect that GAH may have some functional relationship with nerve fibers.
Amino Acid Sequence ; Ammonia ; Animals ; Basal Ganglia ; Blotting, Western ; Brain* ; Cerebellum ; Cerebral Cortex ; Guanine Deaminase* ; Guanine* ; Hippocampus ; Hope ; Hydrogen Peroxide ; Hydrolysis ; Immunohistochemistry ; Intestine, Small ; Kidney ; Liver ; Mesencephalon ; Metabolism ; Nerve Fibers ; Neurons ; Olfactory Bulb ; Parturition ; Pons ; Rats* ; Uric Acid ; Xanthine ; Xanthine Oxidase