• Journal of The Korean Society of Inherited Metabolic disease
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• v.21 no.1
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• pp.7-14
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• 2021

Purpose: Pseudohypoparathyroidism (PHP) is caused by genetic and epigenetic alteration in the GNAS locus, and characterized by the resistance to multiple hormones and the Albright's hereditary osteodystrophy (AHO) phenotype. This study investigated the phenotypic characteristics and molecular features of PHP. Methods: Eight patients who diagnosed as PHP were enrolled at Pusan National University Children's hospital and clinical features, biochemical and genetic findings were retrospectively reviewed. Results: Of a total of 8 patients, 5 were diagnosed with PHP1a, and 3 were diagnosed with PHP1b. Patients with PHP1a had three different mutations in the GNAS gene, and patients with PHPIb had imprinting defect in differentially methylated regions (DMRs) of the GNAS locus. Two novel GNAS variants were identified in patients with PHP1a, including c.313-2A>T and c.1094G>A. All patients with PHP1a displayed AHO features; short stature (80%), brachydactyly (80%), a round face (80%), obesity (40%), heterotopic ossification (60%), and intellectual disability (60%), whereas only one patient (33.3%) with PHP1b showed AHO feature such as a round face. When phenotypic features between PHP1a and PHP1b patients were compared, patients with PHP1b showed a tendency of higher current height standard deviation scores (SDS) compared to patients with PHP1a, (-3.2±2.1 vs.-1.1±0.8; P=0.06) Conclusions: This study summarizes the phenotypic and genetic features of the PHP patients. Although we found considerable clinical overlap between PHP1a and PHP1b, further long-term follow-up is needed to evaluate the growth and development of children with PHP, as well as the effects of end-organ resistances to endocrine hormones.

• 한국노년학
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• v.31 no.2
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• pp.355-369
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• 2011

The purpose of this study was to find the effects of long-term combined exercise on regional bone mineral density(BMD) and cardiovascular disease(CVD) risk factors in the elderly with osteoporosis(OP). For the purpose, the subjects of this study were separated by two groups with thirty-one elderly women, who the first group was combined exercise group(CEG, n=16) and second group was non exercise group(CON, n=15). The combined exercise program was made up of warm-up (10min), work-out (aerobic; 30~45min/HRR 40~60%, resistance; 1RM * 50-70%, 8-10 * 2set ~ 10-15 * 1set), and cool-down (10min). Exercise group of the inspection have been trained 5 times a week for 1years. The results : At first, the variables of regional BMD were significantly different to pelvis, spine, trunk and T-score in two groups. At second, the variables of CVD risk factors were significantly different to SBP and DBP as well as TC, TG, LDL-C and HDL-C in two groups. As results of these conclusion, this study have positively effect shown that CEG was superior to CON in regional BMD(pelvis, spine, trunk and T-score), blood pressure(SBP, DBP) and plasma lipids(TC, TG, and LDL-C). Especially, the long-term combined exercise was provides a striking overall health quality of life with improving BMD and reduced CVD risk factors in the elderly with OP. In the future, other researches should deal with specific measures that reduction in mortality due to chronic disease and improvement quality of life for the development of programs in multiple researches of osteoporosis and chronic diseases.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.34 no.s02
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• pp.45-65
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• 1989

The Korean peninsular having the complexity of the photography and variability of climate is located within passing area of a lots of typhoon occurring from the southern islands of Philippines. So, there are various patterns of wind and flooding damages in paddy field occuring by the strong wind and the heavy rain concentrated during the summer season of rice growing period in Korea. The wind damages to rice plants in Korea were mainly caused by saline wind, dry wind and strong wind when typhoon occurred. The saline wind damage having symptom of white head or dried leaves occurred by 1.1 to 17.2 mg of salt per dry weight stuck on the plant which was located at 2. 5km away from seashore of southern coastal area during the period(from 27th to 29th, August, 1986) of typhoon &Vera& accompanying 62-96％ of relative humidity, more than 6 m per second of wind velocity and 22.5 to 26.4$^{\circ}C$ of air temperature without rain. Most of the typhoons accompanying 4.0 to 8. 5m per second of wind and low humidity (lesp an 60％) with high temperature in the east coastal area and southen area of Korea. were changed to dry and hot wind by the foehn phenomenon. The dry wind damages with the symptom of the white head or the discolored brownish grain occurred at the rice heading stage. The strong wind caused the severe damages such as the broken leaves, cut-leaves and dried leaves before heading stage, lodging and shattering of grain at ripening stage mechanically during typhoon. To reduce the wind damages to rice plant, cultivation of resistant varieties to wind damages such as Sangpoongbyeo and Cheongcheongbyeo and the escape of heading stage during period of typhoon by accelerating of heading within 15th, August are effective. Though the flood disasters to rice plant such as earring away of field, burying of field, submerging and lodging damage are getting low by the construction of dam for multiple purpose and river bank, they are occasionally occurred by the regional heavy rain and water filled out in bank around the river. Paddy field were submerged for 2 to 4 days when typhoon and heavy rain occurred about the end of August. At this time, the rice plants that was in younger growing stage in the late transplanting field of southern area of Korea had the severe damages. Although panicles of rice plant which was in the meiotic growing stage and heading stage were died when flooded, they had 66％ of yield compensating ability by the upper tilling panicle produced from tiller with dead panicle in ordinary transplanting paddy field. It is effective for reduction of flooding damages to cultivate the resistant variety to flooding having the resistance to bacterial leaf blight, lodging and small brown planthopper simultaneously. Especially, Tongil type rice varieties are relatively resistant to flooding, compared to Japonica rice varieties. Tongil type rice varieties had high survivals, low elongation ability of leaf sheath and blade, high recovering ability by the high root activity and photosynthesis and high yield compensating ability by the upper tillering panicle when flooded. To minimize the flooding and wind damage to rice plants in future, following research have to be carried out; 1. Data analysis by telemetering and computerization of climate, actual conditions and growing diagnosis of crops damaged by disasters. 2. Development of tolerant varieties to poor natural conditions related to flooding and wind damages. 3. Improvement of the reasonable cropping system by introduction of other crops compensating the loss of the damaged rice. 4. Increament of utilization of rice plant which was damaged.