Identification of a Novel Nonsense Mutation in the ARSE Gene of a Patient with X-Linked Recessive Chondrodysplasia Punctata

X-linked recessive chondrodysplasia punctata (CDPX1) is caused by a hemizygous mutation in the arylsulfatase E (ARSE) gene located on chromosome Xp22.3. It is a rare congenital disorder of punctate calcifications in cartilages, leading to short stature and facial and limb anomalies. These clinical features are frequently observed in all types of chondrodysplasia punctata and have also been seen in other cartilage developmental disorders. Because of the phenotypical similarities, specific testing for only one gene is inefficient and time consuming. The advent of next-generation sequencing has provided an opportunity to improve diagnostic accuracy as well as save on time and cost. Here, we report on a patient diagnosed with CDPX1, who was identified via diagnostic exome sequencing to have a novel nonsense mutation in the ARSE gene, that was inherited from the mother.

The factors associated with physical fitness measured by bicycle ergometer

BACKGROUND: Recently, according to many studies, variable factors have been known to be associated with physical fitness. The factors such as obesity and inactivity are associated with poor physical fitness, but regular exercise is associated with good physical fitness. In our country, these studies are not yet reported. And so, this study was designed to investigate the factors associat,ed with physical fitness. METHODS: From May 1st, until July 30th 1996, we recruited the 411 subjects who visited the Health Promotion Center at Seoul National University Hospital. Data related to sex, age, exercise, job, cigarette smoking, alcohol consumption were obtained by self-administered Questionnaire. Obesity index was calculated by the percentage of standard body weight. And VO2max were obtained by submaximal bicycle ergometer test. High level exercise group was defined as the persons who had taken exercise more than 3 times a week and 20 minutes per session, and moderate exercise group was defined as the persons who had taken exercise one or two times a week and 20 minutes per session, and sedentary group was defined as the persons who had taken exercise more than 20 minutes less than one time per week. RESULTS: The subjects were 230 males(56%), total numbers were 411. The results were as follows. Compaired to women and nonexercise group, men and exercise group had high VO2max(p_120) was greater than that of nonobese group. Any significant relationships between VO2max and job, disease were not found. In multiple regression analysis, significant relationships between VO2max and age, sex, exercise type, and obesity index were observed(p<0.01). CONCLUSIONS: We concluded that there were significant relationships between VO2max and obesity index, exercise group.

The Correlation of Symptoms and Signs with Stress

BACKGROUND: The patients visiting the primary care complain of the various symptoms. This symptoms may induce the stress or the reverse. In fact the stress can influence the symptoms and signs. So this study was done for the correlation of the symptoms and signs with stress. METHODS: This study was done about the patients visiting the family medicine department of the one university hospital. We collected the all items that can find in the charts for examining the symptoms and signs, and did the requests pater the patients wrote by themselves. The stress test was Psychosocial well being index to be constructed from the General Health Questionnaire. We tested the study by t-test, anova, chi-square, linear logistic regression. RESULTS: The total study numbers were 351. The stress cut-off point was 63 score. The stress group was consisted of 15 males and 43 females. The meaningful symptoms were headache, dizziness, fatigue, weakness, insomnia, anxiety or depression. The meaningful diagnoses were anxiety or depression, tension headache(p<0.05). The meaningful sociodemographic factors were female, housewife or unemployed, menopause, monthly income below 200 ten thousands won. CONCLUSIONS: It was found that the some symptoms and signs were statistically correlated with stress.