A Case Report of Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12, and a Literature Review

A 24-year-old male visited our hospital because of pain in both flanks. His biochemistry profile showed an elevated serum creatinine level and low serum uric acid level. History taking revealed that he had undertaken exercise prior to the acute kidney injury (AKI) event, and he stated that family members had a history of urolithiasis. His renal profile improved after hydration and supportive care during hospitalization. Although the patient was subsequently admitted again due to AKI, his status recovered with similar treatment. Since the diagnosis of the patient was familial renal hypouricemia with exercise-induced AKI, we performed genotyping of SLC22A12, which encodes human urate transporter 1. The diagnosis was confirmed by the detection of a homozygous mutation of W258X. We herein, report a case of familial renal hypouricemia confirmed by genotyping of SLC22A12, and review the relevant literature.

The Effects of Propofol on the Contraction in the Rat Uterine Smooth Muscle / 대한마취과학회지

BACKGROUND: Propofol is an alternative to thiopental as an intravenous induction agent for cesarean section. It is also used as a sedative for supplementation of regional blockade during cesarean section. It has been reported that propofol relaxes not only vascular smooth muscle but also other smooth muscles. The aim of this study was to investigate the effect of propofol on rat uterine smooth muscle in an isolated preparation in the rat. METHODS: Uterine smooth muscle tissues were obtained from rats (n = 21). The muscle strips were suspended in tissue baths and isometric tension was recorded. After spontaneous or oxytocin induced activity had been accomplished in the buffer solution as a control, propofol (1 to 20microgram/ml) in fat emulsion was applied cumulatively to the bath and the effects were continuously recorded. RESULTS: In vitro, propofol induced a dose-dependent inhibition of spontaneous as well as oxytocin induced myometrial contractile activity. Propofol concentration of 1microgram/ml had no significant effects on the resting tension, active tention, and frequency of contraction developed by spontaneous and oxytocin induced uterine contractility. However, Complete muscular relaxations on spontaneous and oxytocin induced contractility were obtained at a concentration of 10microgram/ml and 20microgram/ml, respectively. CONCLUSIONS: Propofol inhibits spontaneous and oxytocin-induced uterine smooth muscle contractions in dose dependent pattern.

The Effect of Level of Exposure to House Dust Mites on the Development of Asthma after Early Childhood Wheezing / 소아알레르기및호흡기학회지

PURPOSE: Many young children suffer from wheezing illness during infancy, and some of them experience wheezing frequently and develop bronchial asthma ultimately. It is not clear whether the level of exposure to allergens in the environment is a significant risk factor for asthma in this clinical setting. The aim of this study was to examine the effect of level of exposure to house dust mites on the development of asthma after early childhood wheezing. METHODS: Asthmatic children(n=21) and nonasthmatic children(n=19) with the past history of wheezing illness during the first three years of age were recruited. Samples of house dusts were collected from the bedclothes in their bedrooms. We measured the amount of group I allergens from Dermatophagoides spp., Der f I and Der p I in house dusts by ELISA using monoclonal antibodies. RESULTS: In asthmatic and nonasthmatic groups, the level of Der f I was higher than that of Der p I, although the difference was not statistically significant. The level of Der f I was 4.32 microgram/gm of dust(geometric mean; range of 1 SD : 0.61-30.48) in asthmatic group and 3.72 microgram/gm(0.50-27.42) in nonasthmatic group. The level of Der p I was 2.22 microgram/gm(0.33-14.96) in asthmatic group and 2.07 microgram/gm(0.31-13.77) in nonasthmatic group. The difference between the two groups was not significant for both allergens. When the total subjects were divided into atopic(n=21) and nonatopic(n=19) groups, there was significant difference in neither Der f I nor Der p I level between atopic and nonatopic groups. CONCLUSION: Although personal atopy is important in the development of asthma after early childhood wheezing, the level of exposure to allergens in the environment may not be a significant risk factor for the development of asthma in this clinical setting.

Correlation of Exercise-Induced Bronchoconstriction to PC20 and Maximal AirwayNarrowing on the Dose-Response Curve to Methacholine / 결핵

BACKGROUND: Exercise is one of the most common precipitants of acute asthma encountered in clinical practice. The development of airflow limitation that occurs several minutes after vigorous exercise, i. g. exercise-induced bronchoconstriction(EIB), has been shown to be closely correlated with the nonspecific bronchial hyperresponsiveness, which is the hallmark of bronchial asthma. All previous reports that assessed the correlation of EIB to nonspecific bronchial hyperresponsiveness have focused on airway sensitivity(PC20) to inhaled bronchoconstrictor such as methacholine or histamine. However, maximal airway narrowing(MAN), reflecting the extent to which the airways can narrow, when being exposed to high dose of inhaled stimuli, has not been studied in relation to the degree of EIB. METHODS: Fifty-six children with mild asthma(41 boys and 15 girls), aged 6 to 15 years(mean +/- SD, 9.9 +/- 2.5 years) completed this study. Subjects attended the laboratory on two consecutive days. Each subject performed the high-dose methacholine inhalation test at 4 p.m. on the first day. The dose-response curves were characterized by their position(PC20) and MAN, which was defined as maximal response plateau(MRP: when two or three data points of the highest concentrations fell within a 5% response range) or the last of the data points(when a plateau could not be measured). On the next day, exercise challenge, free running outdoors for ten minutes, was performed at 9 a.m.. FEV1 was measured at graduated intervals, 3 to 10 minutes apart, until 60 minutes after exercise. Response(the maximal DeltaFEV1 from the pre-exercise value) was classified arbitrarily into three groups; no response ((-) EIB: DeltaFEV1 20%). RESULTS: 1) When geometric mean PC20 of the three groups were compared, PC20 of (+) EIB group was significantly lower than that of (-)EIB group. 2) There was a close correlation between PC20 and the severity of EIB in the whole group(r= -0.568, p<0.01). 3) Of the total 56 subjects, MRP could be measured in 36 subjects, and the MRP of these subjects correlated fairly with the severity of EIB(r= 0.355, p<0.05) 4) The MAN of (+) EIB group was significantly higher than that of (-)EIB group(p<0.01). 5) The MAN correlated well with the severity of EIB in the whole group(r=0.546, p<0.01). CONCLUSION: The degree of MAN as well as bronchial sensitivity (PC2o) to methacholine is correlated well with the severity of EIB. The results suggest that the two main components of airway hyperresponsiveness may be equally important determinants of exercise reactivity, although the mechanism may be different from each other. The present study also provides further evidence that EIB is a manifestation of the increased airway reactivity characteristic of bronchial asthma.

Normal Values of rNeonatal Periumbilical Skin Length

Malformations of umbilicus are a feature of many dysmorphic syndromes and the measurement of periumbilical skin length should be considered as the basic step in the description of the umbilical malformations. So, we measured the periumbilical skin length in the 103 normal neonates and obtained the following results. 1) The means (+SD) of the periumbilical skin length were the 11.7mm (+3.0) in the cranial site and the 8.2mm (+2.5) in the caudal site, and the cranial length was 3.5mm longer than the caudal length. 2) No difference was observed between the male and female groups in the periumbilical skin length. 3) Age was the only statistically significant variable associated with the periumbilical skin length and it was observed that the periumbilical skin length decreased according to the advance of age (hour).

Normal predicted values of pulmonary function test in Korean school-aged children

In recent years pulmonary function teste have had a wide application in clinical pulmonary diseases. By combining a number of different pulmonary function tests, abnormality present in a particular pa tient can be defined. This narrows the list of possible diagnosis and allows to determine accurately the degree of impairment and assess the pesponse to therapy. To assess the pulmonary function in a patient and label as abnormal, it becomes important to define the range of expected values for a normal population. These normal'predicted values'vary according to sex and prowth, i.e., age, height, and weight, particularly in children. In addition, race and geography have been consistently shown to bc an important determinant of lung function. In order to obtain normal perdicted values of pulmonary function tests in Korean school-aged children, we performed spirometry-based pulmonary function tests on the normal healthy 2022 children, age from 6 through 15, and analyzed the data, with the parameters such as sex, age, height, weight, and body surface area. We calculated each of their simple and complex linear and logarithmic regression equations setting the predicted values. The results are as follows: 1) Predicted values of pulmonary function test items were generally higher in boys than those of girls. 2) A correlation coefficient to the parameters examined was the highest in FEV1, then those of FVC, FEF25,PEFR, FEF50, MMEF, AND FEF75 follow in order. 3) Of the parameters examined, height had the highest correlation coefficient consistently in all pulmonary function test items. 4) As compared with the inland and overseas data, some differences were observed.