No abstract available.
Hypnotics and Sedatives*

An 18-year-old man had suffered from intense burning with redness and an increased temperature of both the lower legs, forearms and hands since the age of 5. Symptoms were exacerbated by exposure to heat or walking. The patient obtained temporary relief by immersing his feet and hands in cold water. We observed the increase of skin temperature in relation to pain by thermography. No specific abnormalities were noted in laboratory studies. Treatment with aspirin was ineffective. We report a rare case of primary erythermalgia with typical features.
Adolescent ; Aspirin ; Burns ; Erythromelalgia* ; Foot ; Forearm ; Hand ; Hot Temperature ; Humans ; Leg ; Skin Temperature ; Thermography ; Walking ; Water

BACKGROUND: Noninvasive estimation of pulmonary artery pressure is an important component of echocardiographic studies. A number of methods are available for estimation of pulmenary pressure, each with varying degrees of reported accuracy. To assess accuracy and difficulties, noninvasive pulmonary artery pressure estimates were performed in infants and children with congenital heart diseases. METHODS: Noninvasive estimates from 8 methods were compared with catheterization measurements. Systolic pressure was estimated by the Burstin method and from perak tricuspid regurgitation velocity, and also from systolic pressure gradients through the VSD(ventricular septal defect) and PDA(patent ductus arteriosus). Mean pressure was estimated by acceleration time divided by ejection time measured from Koppler spectrum obtained at the right ventricular out flow tract. Diastolic pressure was estimated from pulmonary regurgitation velocity spentrum at end-diastolic, and also from diastolic pressure gradient through the patent ductus arteriosus. RESULTS: IN systolic pressure, Burstin and tricuspid regurgitation velocities estimates correlated significantly(r=0.92, 0.90 respectively), whereas VSD and PDA estimates correlated less well with catheterization estimates(r=0.83, 0.65 respectively). The mean pressure, measured from RVOT(right ventricular outflow tract) Doppler spectrum corresponded well with catheterization pressure(r=0.89), whereas those obtained from the main pulmonary artery correlated less well(r=0.74). The diastolic pressure estimates from pulmonary regurgitation velocity spectrum, revealed good correlation(r=0.79), but those from diastolic Doppler spectrum at PDA correlated less well with catheterization estimates(r=0.63). CONCLUSION: All of eight Doppler echocardiographic methods seemed to be easily performable for estimation of pulmonary artery pressure. But, the degree of accuracy was variable. Because a pressure estimante from only a single method may be in error, care should be taken in combining use of other(one or two) methods.
Acceleration ; Blood Pressure ; Catheterization ; Catheters ; Child ; Ductus Arteriosus, Patent ; Echocardiography* ; Echocardiography, Doppler ; Heart Diseases ; Humans ; Infant ; Pulmonary Artery* ; Pulmonary Valve Insufficiency ; Tricuspid Valve Insufficiency

The use of recombinant DNA technology to produce human growth hormone has resulted in a marked increase in availability of Growth Hormone(GH) to treat short stature due to GH deficiency and other conditions, such as Turner syndrome, familial short stature, chronic renal insufficiency and intrauterine growth retardation (IUGR). But, the GH therapy may result in the adverse events such as sodium and water retention, pseudotumor cerebri, slipped capital femoral epiphysis, growth of nevi, recurrence of tumor. We experienced a case of severe hypertension associated with GH therapy in a 14-year-old male who presented high blood pressure up to 190/100 mmHg and normalized at 2-3 weeks after discontinuation of GH. Therefore, we think that the blood pressure should be carefully monitored during GH therapy.
Adolescent ; Blood Pressure ; DNA, Recombinant ; Fetal Growth Retardation ; Growth Hormone* ; Human Growth Hormone ; Humans ; Hypertension* ; Male ; Nevus ; Noonan Syndrome ; Pseudotumor Cerebri ; Recurrence ; Renal Insufficiency, Chronic ; Slipped Capital Femoral Epiphyses ; Sodium

OBJECTIVE: This study was done to evaluate the risk factors and prevalence of symptom-giving pelvic girdle relaxation in pregnant women. METHODS: Three hundreds thirty-two postpartum women were asked to fill out a questionnaire within one week after their parturition. The diagnostic criteria of this lesion were adopted from the Norwegian Medical Association's and Larsen's criteria. The questionnaire were included age, parity, BMI(kg/cm2), weight gain during the pregnancy, history of symptom giving pelvic girdle relaxation in previous pregnancy, level of exercise and vocational status during and before the pregnancy and baby's birth weight. The answers were evaluated to determine the risk factors. The correlation was tested by student t-test and logistic regression. RESULTS: The prevalence of symptom-giving pelvic girdle relaxation during pregnancy was 18.9%. The history of symptom-giving pelvic girdle relaxation in previous pregnancy, multiparity and the absence of regular exercise before and during pregnancy showed correlation with symptom-giving pelvic girdle relaxation in pregnancy (p<0.05). CONCLUSION: It is suggested that women who experienced symptom-giving pelvic girdle relaxation in previous pregnancy should be checked for this lesion before pregnancy. Regular exercise is required to lower the incidence and lessen the severity of this lesion in pregnancy.
Birth Weight ; Female ; Humans ; Incidence ; Logistic Models ; Parity ; Parturition ; Postpartum Period ; Pregnancy ; Pregnant Women* ; Prevalence* ; Surveys and Questionnaire ; Relaxation* ; Risk Factors* ; Weight Gain

No abstract available.
Cytogenetics*

TGF-p receptor mutation is now considered as one of the carcinogenic process of many tumors. To evaluate whether there is an abnormality in TGF-p type II receptor in osteosarcoma cell lines, we performed Northern analysis, cross-linking assay, luciferase activity and TGF-p growth inhibition assay in four osteosarcoma cell lines: G292, U202, HOS and SaOS. We also transfected the tumor cells with normal TGF-p type II receptor sequence to find if there is a possibility of gene therapy in osteosarcoma. In Northern analysis, Type II receptor expressions were decreased at SaOS, U202 and HOS cell lines. In cross-linking assay, all four cell lines didnt show type II receptor at their cell surface. The growth of these tumor cells were not suppressed by TGF-p. From these findings, we concluded that the normal production of TGF-p type II receptor was impaired in osteosarcoma. The transfection of these tumor cells with normal type II receptor sequence restored growth inhibition by TGF-p. This means even though TGF-p type II receptor is abnormal in osteosarcoma, we can restore its function by transfection of normal sequence. We think that the TGF-p type Il receptor gene therapy can be one of the treatment method for osteosarcoma in the future.
Cell Line* ; Genetic Therapy ; Luciferases ; Osteosarcoma* ; Transfection

BACKGROUND: Do-Not-Resuscitate(DNR) order has been used without specific legislation commonly in hospitals of Korea. We designed this study to assess the current use of DNR order in the emergency department and to make a database for establishing a policy for DNR order, especially in ER. METHODS: We retrospectively reviewed medical records of 164 patients who expired in the emergency department of Severance hospital from Sep. 1996 to Aug. 1997. We evaluated age, sex, diagnosis, specific department involved, whether written orders were made and medical care after decision of DNR. The patients were divided into 2 groups : DNR vs CPR. To determine factors influencing DNR decision, we searched for presence of malignancy, irreversible shock, unconsciousness and chronic illness. The logistic regression analysis was used for statistical significance. RESULTS: We found that 102(62.2%) out of 164 expired patients had a DNR order. But only in 59% of cases, were written DNR order on the chart. Factors which had the most influence on decision of DNR were malignancy and age. The sex, chronic illness, irreversible shock, and unconsciousness were not significant factors. CONCLUSION: We found malignancy and old age as an important factor when DNR order had been made. But further evaluation of other factors may be necessary to establish definitely a policy for DNR order.
Cardiopulmonary Resuscitation ; Chronic Disease ; Diagnosis ; Emergency Service, Hospital ; Humans ; Korea ; Logistic Models ; Medical Records ; Retrospective Studies* ; Shock ; Unconsciousness

Joubert syndrome and Joubert syndrome-related disorders (JSRDs) are rare autosomal recessive or X-linked disorders characterized by cerebellar vermis hypoplasia and a brain stem malformation, which presents as the “molar tooth sign” in magnetic resonance imaging (MRI). JSRDs are a group of clinically heterogeneous conditions that exhibit neurological manifestations and multiple organ involvement. JSRDs are also genetically heterogeneous, and approximately 20 causative genes that account for 45% of JSRDs have been identified. A 7-yr-old boy visited Wonkwang University Sanbon Hospital with the following presentations: no ocular fixation, ataxia, growth retardation, and hypotonia. Physical examination revealed facial dysmorphism, spindle shaped fingers, and height (99 cm) and weight (13 kg) below the third percentile. Ophthalmic examination revealed retinal dystrophy. A diagnosis of JSRDs was made based on clinical and brain MRI findings. We found two heterozygous variants c.2945 G>T; p.Arg982Met (G>T) and c.2216dupA; p.Phe740Valfs*2 (dupA) in AHI1, and a heterozygous c.3973C>T; p.Arg1325Trp (C>T) variant in KIF7 by whole exome sequencing (WES). Genetic analysis on the proband's father revealed that he had both AHI1 variants, but did not have the KIF7 variant, which was inconsistent with autosomal recessive inheritance. Therefore, the G>T variant and C>T variant were presumed to be of “uncertain significance.” Furthermore, one novel dupA variant was interpreted as “pathogenic,” while the second allele was not detected. Caution should be exercised while interpreting the significance of variants detected by WES. In addition, the involvement of genes other than the 20 known ones will require further investigation to elucidate the pathogenesis of JSRDs.
Alleles ; Ataxia ; Brain ; Brain Stem ; Cerebellar Vermis ; Child* ; Diagnosis ; Exome* ; Fathers ; Fingers ; Fixation, Ocular ; Humans ; Magnetic Resonance Imaging ; Male ; Muscle Hypotonia ; Neurologic Manifestations ; Physical Examination ; Retinal Dystrophies ; Tooth ; Wills

No abstract available.
Bacteroides fragilis* ; Bacteroides*