Joubert syndrome is a rare autosomal recessive condition characterized by dysgenesis of the cerebellar vermis, hypotonia, developmental delay, ataxia, abnormal eye movements, and a respiratory pattern of alternating tachypnea and apnea. Brain MRI shows the molar tooth sign resulting from dysplasia of the isthmic segment of the brain stem, superior cerebellar peduncles, and vermis. We experienced a case of Joubert syndrome, who was a 18 month-old female with episodic hyperpnea, developmental delay, abnormal eye movements and complete agenesis of the cerebellar vermis. We present this case with a brief review of literature.
Apnea ; Ataxia ; Brain ; Brain Stem ; Eye Movements ; Female ; Humans ; Infant ; Magnetic Resonance Imaging ; Molar ; Muscle Hypotonia ; Tachypnea ; Tooth

Bronchiolitis Obliterans(BO) is one of the rare inflammatory lung disease that primarily affects bronchi and bronchioles, followed by partial or complete obstruction. In children, the etiology of BO has been under consideration, but infections and toxic inhalation, connective tissue diseases, lung transplantation, congestive pulmonary edema, etc., may be causes of BO. Even though steroid therapy was reported as an effective treatment, there are few data regarding the epidemiology, pathophysiology, long term prognosis and therapy. Here we describe a 5-year-old boy who presented with intractable wheezing associated with Stevens-Johnson syndrome after Varicella-Zoster virus infection and was diagnosed as BO through chest high-resolution computed tomography.
Bronchi ; Bronchioles ; Bronchiolitis Obliterans* ; Bronchiolitis* ; Child ; Child, Preschool ; Connective Tissue Diseases ; Epidemiology ; Estrogens, Conjugated (USP) ; Herpesvirus 3, Human ; Humans ; Inhalation ; Lung Diseases ; Lung Transplantation ; Male ; Prognosis ; Pulmonary Edema ; Respiratory Sounds ; Stevens-Johnson Syndrome* ; Thorax

PURPOSE: Nowadays, drinks, foods and snacks have frequently been intensified with calcium and the insights into the importance of calcium-intake in general has developed in Korea. In this decade, we found the numbers of children who was visited to our hospital for evaluation of hematuria defined with hypercalciuria were increased. So we tried to compare the mean levels of serum calcium, alkaline phosphate, sodium, potassium, chloride, BUN, creatinine, bicarbonate and urinary pH who visited our hospital in 1991, 1992 with in 2000, 2001. MATERIALS AND METHODS: Between January 1991 to December 1992, and between January 2000 to December 2001, each 366 children and 488 children, aged 1 month to 15 years, who presented in our hospital for tonsilectomy and adenoidectomy or for inguinal herniorrhaphy were enrolled in the study. The children in the study were checked the level of serum calcium, alkaline phosphate, sodium, potassium, chloride, BUN, creatinine, bicarbonate and urinary pH with the machine which was corrected the similar levels of practical chemical levels in serum. We compared each mean levels in 1991s' group with in 2001s' group totally and separately through the age and sex. We used t-test to analysis data. RESULTS: The levels of serum calcium, alkaline phosphate, creatinine, sodium, potassium, and urinary pH of 2001s' group were significantly higher than the levels of 1991s' group(P<0.05). The each level was 9.91+/-0.50 mg/dL, 248.58+/-94.98 U/L, 0.61+/-0.14 mg/dL, 138.64+/-2.22 mM/L, 4.35+/-0.40 mM/L, 6.18+/-0.86 in 2001s' and 9.13+/-0.68 mg/dL, 198.26+/-79.34 U/L, 0.433+/-0.18 mg/dL, 137.86+/-2.67 mM/L, 4.22+/-0.36 mM/L, 5.83+/-0.95 in 1991s'. And the levels of serum bicarbonate, 23.64+/-2.57 mM/L in 2001s' was significantly lower than the 1991s', 24.60+/-2.23 mM/L (P<0.05). The similar results were detected each age and sex group. CONCLUSION: The levels of serum calcium increase in this decade. The results will be used as a basic data for the national health plan in the years to come.
Adenoidectomy ; Calcium* ; Child ; Creatinine ; Gangwon-do* ; Hematuria ; Herniorrhaphy ; Humans ; Hydrogen-Ion Concentration ; Hypercalciuria ; Korea* ; Potassium ; Snacks ; Sodium

PURPOSE: To determine the long-term repeatability of diurnal intraocular pressure (IOP) patterns in healthy Asian subjects without glaucoma. METHODS: Twenty-three eyes in 23 healthy Asian subjects without glaucoma underwent diurnal IOP measurements using Goldmann applanation tonometry every 2 hours from 9 AM to 11 PM during two visits that were 8 weeks apart. To validate repeatability between visits, we calculated intra-class correlation coefficients (ICCs) mean IOP, peak IOP, minimum IOP, and IOP fluctuation at each time point and expressed the results as the difference between peak IOP and minimum IOP or as the standard deviation of all diurnal IOP values in the diurnal IOP curve. RESULTS: IOP repeatability was excellent at all time points, with ICCs ranging from 0.812 to 0.946 (p < 0.001). The 9 AM IOP showed the best repeatability between visits (ICCs, 0.946). Repeatability of mean IOP, peak IOP, and minimum IOP was also excellent (ICCs ranging from 0.899 to 0.929). However, IOP fluctuations showed poor repeatability, with an ICC lower than 0.15. CONCLUSIONS: Long-term repeatability of diurnal IOP patterns in healthy Asian subjects was excellent. These findings suggest that IOP measurements at standardized times of the day will be useful for assessing the effectiveness of glaucoma therapy.
Asian Continental Ancestry Group* ; Circadian Rhythm ; Glaucoma ; Humans ; Intraocular Pressure* ; Manometry

This study was conducted to estimate the causing factors of industrial accident, and to prepare the fittable control program for accident through the evaluation of views of the patients who suffered from accidents. From January 5 to February 6 1993, questionnaire survey was executed on 166 persons who were injured and covered by the insurance under industrial accident compensation law at four university hospitals in Pusan. The results were as follows : 1. Most of subjects worked in the manufacturing (56.6%) and construction(29.5%), and in the small factory less than 49 workers(56.0%). They were thirties and forties(63.8%), less than 3 years tenure(53.6%), habitual drinker(69.2%). And, 72.3% worked for above 9 hours per day, 53.6% worked as near clerks, 89.2% thought that work is rather suitable to his own personality. 2. Self-recognition for the causing factor of industrial accident was the other's malfunction(19.3%), carelessness(15.1%), lack of education for safety(15.1%), and they thought the accident occurred by mainly some defect of establishment and working environment(34.9%), unskillfulness(22.9%), self-carelessness(22.3%). 3. The interests and recognition on safety was insufficient, 88.6% require job education, but 53% pointed out the necessity for strengthening of present status-rather incomplete with relying on self-education (40.9%), no previous participation in safety education (29.5%), etc. 4. For the kind of accident, fall-down(16.3%), crash(13.3%), falling(12.7%) was frequent, head(24.7%) and fracture(41.0%) was frequent for the part and type of injury, respectively. And, they had more injured by cooperative work (82.5%) than single work. As results, improvement of working environment and strengthening education program would be emphasized for the effective control of industrial accident. And, there should be prepared the specific prevention program for the small scale industries.
Accidents, Occupational* ; Busan ; Compensation and Redress ; Education ; Hospitals, University ; Humans ; Insurance ; Jurisprudence ; Questionnaires

OBJECTIVES: This study investigated the toxic effects of cadmium on placental function and reproduction in rats. For this study, the mRNA levels of the placental prolactin-growth hormone (PRL-GH) gene family, placental trophoblast cell frequemcy and reproductive data were analyzed. METHODS: Pregnant F344 Fisher rats (200 g+/-23 g) were intraperitoneally injected with 0, 0.5, and 5.0 mg/kg B.W/day of cadmium (CdCl2) dissolved in saline from days 7-11 or 16-20 of pregnancy, and were sacrificed at days 11 or 20, respectively. The mRNA levels were analyzed by Northern blot hybridization and reverse transcription-polymerase chain reaction. The hormone concentration was analyzed by radioimmunoassay and the frequemcy of the placental trophoblast cells was observed by histochemical study. Reproductive data were surveyed at day 20 of the pregnancy and after the births. Statistical analysis was carried out using the SAS program (version 8.1). RESULTS: The mRNA levels of the PRL-GH gene family were reduced dose dependently by cadmium. The mRNA levels of Pit-1a and -b isotype genes were also reduced by cadmium. The hormone concentration of PL-Iv and -II was decreased by cadmium. During the second half of pregnancy (days 11-21), a high dose of cadmium exposure significantly reduced the frequency of spongiotrophoblast and trophoblast giant cells that secrete the PRL-GH hormones. In the last stage of pregnancy (day 20), a high dose of cadmium exposure induced the apoptosis of spon-giotrophoblast cells in the junctional zone of the placenta. Reproductive data such as placental and infant weight, number of live fetuses were decreased, and number of resorptions and dead fetuses, post-implantation loss were increased significantly in the cadmium exposed group compared with the control. CONCLUSIONS: Cadmium disrupts the functions of the placenta and these effects leads to reproductive disorders in rats.
Animals ; Apoptosis ; Blotting, Northern ; Cadmium* ; Fetus ; Giant Cells ; Humans ; Infant ; Parturition ; Placenta ; Pregnancy ; Radioimmunoassay ; Rats* ; Reproduction* ; RNA, Messenger ; Trophoblasts

The aim of this study was to investigate the efficacy of simvastatin to improved lipid profiles in hypercholesterolemic Korean patients. METHODS: From 25 hospitals in Korea, 478 hypercholesterolemic patients were enrolled from November 1996 to April 1998. The inclusion criteria was hypercholesterolemia over 240 mg/dl after diet therapy for 1 month or hypercholesterolemia over 220 mg/dl in patients with definite evidence of ischemic heart disease. Simvastatin 10mg was started and doubled up to 40mg if total cholesterol level remained higher than 200 mg/dl at monthly check. Of 478 subjects, 344 patients in whom study protocol was not violated were analyzed. RESULTS: Male to female ratio was 27:73 and 47% of the subjects were in 6th decade. Hypertension, coronary artery disease, and diabetes mellitus were present in 30, 10, and 4% of the subjects. Baseline lipid profile (mean of total cholesterol-LDL-HDL-triglyceride mg/dl) was 274-185-52-188. The dose of simvastatin for 3 months was 10/10/10mg in 61% of subjects, 10/20/20mg in 21%, 10/10/20mg in 7%, and 10/20/40mg in 12%. The change of total cholesterol level(before-4wk-8wk-12wk-withdrawal 4wk) was 274-209- 205-198-250, and the maximal reduction rate was 27%. The change of LDL-cholesterol was 185-123-116-110-159, with maximal reduction rate 39%. The change of HDL-cholesterol was 52-54-56-55-54, with maximal increase rate 9%. The change of tryglyceride was 188-161- 164-162-189, with maximal reduction rate 15%. The value before/after treatment of ApoA1, ApoB, and Lp(a) was 129/129, 138/83, and 9.3/10.7, respectively. The level of LDL-cholesterol at the end of treatment was below 100mg/dl in 36% of subjects, 100-130 in 45%, 130-160 in 16%, and over 160mg/dl in 4%. The reduction rate of LDL-cholesterol was different between subjects whose LDL decreased below 100 and those whose LDL did not decrease below 130mg/dl, which suggests the existence of the individual difference of responsiveness to simvastatin. There were only 3 subjects (0.9%) who showed increase of liver enzyme over 3 times as the upper normal limit. Conclusion: Simvastatin is effective in improving lipid profiles in hypercholesterolemic Korean patients without serious side effects.
Apolipoproteins B ; Cholesterol ; Coronary Artery Disease ; Diabetes Mellitus ; Diet Therapy ; Female ; Humans ; Hypercholesterolemia ; Hypertension ; Individuality ; Korea ; Liver ; Male ; Myocardial Ischemia ; Simvastatin*

The aim of this study was to investigate the efficacy of simvastatin to improved lipid profiles in hypercholesterolemic Korean patients. METHODS: From 25 hospitals in Korea, 478 hypercholesterolemic patients were enrolled from November 1996 to April 1998. The inclusion criteria was hypercholesterolemia over 240 mg/dl after diet therapy for 1 month or hypercholesterolemia over 220 mg/dl in patients with definite evidence of ischemic heart disease. Simvastatin 10mg was started and doubled up to 40mg if total cholesterol level remained higher than 200 mg/dl at monthly check. Of 478 subjects, 344 patients in whom study protocol was not violated were analyzed. RESULTS: Male to female ratio was 27:73 and 47% of the subjects were in 6th decade. Hypertension, coronary artery disease, and diabetes mellitus were present in 30, 10, and 4% of the subjects. Baseline lipid profile (mean of total cholesterol-LDL-HDL-triglyceride mg/dl) was 274-185-52-188. The dose of simvastatin for 3 months was 10/10/10mg in 61% of subjects, 10/20/20mg in 21%, 10/10/20mg in 7%, and 10/20/40mg in 12%. The change of total cholesterol level(before-4wk-8wk-12wk-withdrawal 4wk) was 274-209- 205-198-250, and the maximal reduction rate was 27%. The change of LDL-cholesterol was 185-123-116-110-159, with maximal reduction rate 39%. The change of HDL-cholesterol was 52-54-56-55-54, with maximal increase rate 9%. The change of tryglyceride was 188-161- 164-162-189, with maximal reduction rate 15%. The value before/after treatment of ApoA1, ApoB, and Lp(a) was 129/129, 138/83, and 9.3/10.7, respectively. The level of LDL-cholesterol at the end of treatment was below 100mg/dl in 36% of subjects, 100-130 in 45%, 130-160 in 16%, and over 160mg/dl in 4%. The reduction rate of LDL-cholesterol was different between subjects whose LDL decreased below 100 and those whose LDL did not decrease below 130mg/dl, which suggests the existence of the individual difference of responsiveness to simvastatin. There were only 3 subjects (0.9%) who showed increase of liver enzyme over 3 times as the upper normal limit. Conclusion: Simvastatin is effective in improving lipid profiles in hypercholesterolemic Korean patients without serious side effects.
Apolipoproteins B ; Cholesterol ; Coronary Artery Disease ; Diabetes Mellitus ; Diet Therapy ; Female ; Humans ; Hypercholesterolemia ; Hypertension ; Individuality ; Korea ; Liver ; Male ; Myocardial Ischemia ; Simvastatin*