Prader-Willi syndrome is characterized by infantile hypotonia, mental retardation, hyperhagia, hypogonadism and obesity. Approximately 60% of all PLW syndrome show an interstitial deletion of chromosome 15, 37% have apparently normal chromosome, and 3.6% have a variety of other abnormalities involving chromosome 15. Diabetes mellitus has been considered a component of PLW syndrome and the incidence is about 7%. We experienced a 17-year-old female who revealed mental retardation, hypogonadism, obesity, and non-insulin dependent type DM, compatible with Prader-Willi syndrome.
Adolescent ; Chromosomes, Human, Pair 15 ; Diabetes Mellitus* ; Female ; Humans ; Hypogonadism ; Incidence ; Intellectual Disability ; Muscle Hypotonia ; Obesity ; Prader-Willi Syndrome*

BACKGROUND: As an antihypertensive drug, Nifedipine, a calcium channel blocker was introduced recently, which also has antianginal effect. But due to the relatively short duration of action, another antihypertensive agents having longer duration of action and stronger hypertensive effect were under investigation. Nilvadipine, a new calcium channel blocker, was introduced to have more prologned duration of action and to act more specifically on vascular smooth muscle. So the efficacy and safety of oral Nilvadipine on essestial hypertension was investigated and represented by our institute. METHODS: In order to investigate the efficacy and safety of oral Nilvadipine, daily doses of 4mg twice a day were administered in 30 hypertensive patients whose states were compatible to the criteria : 1) severity of hypertension rated in Stage I and Stage II according to the classification by WHO, 2) ages ranging from 30 to 74 years regardless of sex, 3) blood pressure with 95mmHg or higher but less than 115mmHg in diastolic pressure which was the mean in a sitting position at the last two out of not less three consultations in the 2 week observation period, 4) outpatients with informed consent for 6 weeks. Blood pressure and heart rate were measured every 2 weeks. The complete with blood count with platelet, uronalysis and the electrocardiography were performed at the beginning period and the 6th weeks of therapy. And kinds of side effects were questioned by examining physicians. RESULTS: The following results were obtained : 1) Blood pressure fell significantly in 6 weeks of treatment with Nilvadipine(Mean pressure+/-S.D., 6.00mmHg vs 108.90+/-9.68mmHg p<0.05), 2) There was no significant change in EKG in 6 weeks of treatment with Nilvadipine, 3) Pulse rate was decreased in 6 weeks of treatment with Nilvadipine(80.14+/-11.90/min vs 75.39+/-6.47/min, p<0.05). 4) No significant chsange in body weight was observed(64.50+/-8.7kg vs 63.50+/-10.25kg, p<0.05). 5) There were no significant changes in blood chemistry including blood sugar, cholesterol, electrolytes, serum creatinine and alkaline phosphatase values, 6) Hematologic findings and urinalysis findings reamained unchanged, 7) Total 10 patients(33.30%) had various side effects;facial flushing 30.00%, palpitation 23.33%, headache 20.00%, nausea 10.00%, drowsiness 3.33%, heaviness 3.33% and indigestion 3.33%. But there was no serious side effect that requires to discontinue the medication of the test drug. And there was no need to reduce the dosage due to the side effect, 8) The antihypertensive effect was judged to decrease markedly in 76.70%, decrease 20.00%, unchange 3.30% and increase 0.00%, 9) The utility which was assessed with the data from the overall safety and antihypertensive effect, the drug was judged to be very useful in 60.00%, useful 33.30%, useless 6.67% and inhibited 0.00%. CONCLUSION: From the above results, Nilvadipine in doses of 4mg twice a day was effective and useful in most cases without severe side effects in essential hypertensive patients with diastolic blood pressure of 95 to 115mmHg.
Alkaline Phosphatase ; Antihypertensive Agents ; Blood Glucose ; Blood Platelets ; Blood Pressure ; Body Weight ; Calcium Channels ; Chemistry ; Cholesterol ; Classification ; Creatinine ; Dyspepsia ; Electrocardiography ; Electrolytes ; Flushing ; Headache ; Heart Rate ; Humans ; Hypertension* ; Informed Consent ; Muscle, Smooth, Vascular ; Nausea ; Nifedipine ; Outpatients ; Referral and Consultation ; Sleep Stages ; Urinalysis

No abstract available.
Aortic Aneurysm, Abdominal*

No abstract available.
Anesthetics*

Thrombomodulin (TM) is thrombin receptor present on the luminal surface of endothelial cells. Because the thrombin-TM complex acts as an anticoagulant, the functional variants or deficiency of TM may lead to increment of thrombotic tendency. In this study, we screened the genetic variants of the TM gene in patients with myocardial infarction (MI) and analyzed the genotype to elucidate the effects of genetic variations of TM gene on the development of the MI. We screened a promoter region and coding sequence of the TM gene using single strand conformation polymorphism-heteroduplex analysis and identified three common genetic variants: those were TM G-33A, TM Ala455Val, and TM C1922T. The genotype frequencies were investigated in the patients with MI (n=234) and control subjects (n=291) by the method of allele-specific oligomer hybridization. The frequencies of mutant genotypes (TM -33A, TM 455Val, and TM 1922T) were higher in patient group compared to the control subjects in males while there were no significant differences in females. In the multiple logistic regression analysis, TM 455Val and TM 1922T alleles were independent risk factors for MI (OR[95% CI: 1.799[1.125-2.878] p=0.014 and 5.624[1.019-31.025], p=0.048, respectively) in males. However, the genetic variations were not independent risk factors for MI in females. There were significant linkage disequilibriums among three genetic variants. These linkage disequilibriums explain the similar effects of three genetic variants on the development of MI. To investigate the effect of the TM G-33A mutation on TM promoter activity, the two TM promoter constructs (pTM-355 and pTM-125, bearing TM -33G or TM -33A) containing of firefly luciferase gene were transfected into HepG2, BAE, and CHO cells. The promoter activities were higher in the promoter constructs with TM -33G compared to the constructs with TM -33A in pTM-355. These results suggest the possibility of the positive predisposing effect of TM -33A allele on MI in males. The functional study for TM Ala455Val and TM C1922T should be followed to elucidate the genotype effects of these mutations on the development of MI. In this study, we identified three genetic variants of TM gene and showed the significant associations between genetic variants and MI in males. These results proposed that TM gene is an attractive candidate for genetic risk factor for MI in Koreans.
Alleles ; Animals ; CHO Cells ; Clinical Coding ; Cricetinae ; Endothelial Cells ; Female ; Fireflies ; Genetic Variation ; Genotype ; Humans ; Linkage Disequilibrium ; Logistic Models ; Luciferases ; Male ; Myocardial Infarction* ; Phenobarbital ; Promoter Regions, Genetic ; Receptors, Thrombin ; Risk Factors* ; Thrombomodulin

No abstract available.
Child* ; Drug Therapy ; Humans ; Radiotherapy

No abstract available.
Humans ; Infant, Newborn* ; Streptococcus pneumoniae* ; Streptococcus*

BACKGROUND AND OBJECTIVES: Vascular stenosis after surgical repair frequently occurs in congenital heart disease. Although conventional balloon dilation is a useful option for stenotic lesions, restenosis may occur. Consequently, balloon expandable stents have been used; however, there are a limited number of balloon expandable stents in our country. Here, we report the early and intermediate-term outcomes of self-expandable stents in vascular stenosis of moderate to large-sized vessels in congenital heart disease. METHODS: Twelve self-expandable stents were implanted in 9 patients between February 2012 and January 2019. The median age and weight were 12 years (range, 4–39 years) and 38 kg (range, 19–69 kg), respectively. The patients were followed-up for a median duration of 43 months (range, 1–83 months) after stent implantation. RESULTS: Nine self-expandable stents were implanted in the pulmonary artery, 2 stents in the right ventricle to the pulmonary artery conduit, and 1 stent in the coarctation. The narrowest diameter of the stented vessel increased from 5.7±3.2 mm to 12.6±3.4 mm (p<0.05). The mean pressure gradient across the stenotic lesion decreased from 23.0±28.2 mmHg to 3.2±3.6 mmHg (p<0.05). Distal migration of the stent occurred in 1 patient, and significant neointimal ingrowth was noted in 1 patient. CONCLUSIONS: The self-expandable stent may be a useful option to relieve vascular stenosis in moderate to large-sized vessels with acceptable intermediate-term outcomes.
Catheterization ; Constriction, Pathologic ; Heart ; Heart Defects, Congenital ; Heart Ventricles ; Humans ; Pulmonary Artery ; Stents

Fracture of the scaphoid constitute 60% to 70% of all diagnosed carpal injury. The acute fracture will heal approximately 90% of the time if recognized early and properly immobilized. But nonunion are common since the symtoms do not alert patients to seek early medical treatment and the diagnosis is easily missed. Authors have experienced 19 cases of scaphoid nonunion and accomplished good result in all case by Russe procedure. The results were summerized as follow: 1 The cause of fratures was mainly due to fall down dinjury (36.8%). 2. The most common mechanism of the fracture was fall on the outstretched hand (52.7%). 3. Fractures were shown on the anterior-posterior, lateral and billiards view in all cases. 4. In ten cases, the fractures were found on the waist of scaphoid. 5. The cases of nonunion were probably inadequate intial treatment and delayed diagnosis. 6. The good results were obtained by bone graft according to Russe procedure.
Delayed Diagnosis ; Diagnosis ; Hand ; Humans ; Transplants

Ganglia are ubiquitous but periosteal ganglion is rare. This case is presented showing an unusual radiological picture. The radiological picture with honey combed appearance is striking. Previaus reports have stressed the concavity in the cortex. Histologically the structure is identical to that of soft tissue ganglia.
Animals ; Comb and Wattles ; Ganglia ; Ganglion Cysts ; Honey ; Strikes, Employee