Journal of Korean medical science
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J. Korean Med. Sci. · May 2013
Case ReportsFirst Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome.
Sheldon-Hall syndrome (SHS) is a rare autosomal dominant, inherited arthrogryposis syndrome characterized by multiple congenital contractures of the distal limbs. To date, four genes that encode the skeletal muscle fiber complex have been confirmed as the causative genes. Mutations in MYH3 have been identified most frequently and few cases of SHS caused by TPM2 mutations have been reported worldwide. ⋯ R133W. The affected mother and daughter manifested typical facial features of SHS including a triangular face with downslanting palpebral fissures, small mouth, high arched palate, and prominent nasolabial folds, and showed camptodactyly of fingers and deformities of feet with congenital vertical tali. Generalized myopathy with relative sparing of the slow-twitch muscle fibers was also revealed by electromyography in the affected mother.
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J. Korean Med. Sci. · May 2013
Prevalence and risk factor of neck pain in elderly Korean community residents.
Neck pain is a common musculoskeletal condition, which causes substantial medical cost. In Korea, prevalence of neck pain in community based population, especially in elderly subjects, has scarcely been reported. We evaluated the prevalence, the severity and the risk factors of neck pain in elderly Korean community residents. ⋯ The prevalence of neck pain was significantly associated with female gender, obesity and smoking. This is the first large-scale Korean study estimating the prevalence of neck pain in elderly population. Although the majority of individuals had low-intensity/low-disability pain, subjects with neck pain had a significantly worse SF-12 score indicating that neck pain has significant health impact.
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J. Korean Med. Sci. · May 2013
Case ReportsNarcolepsy with obstructive sleep apnea in a 4-year-old Korean girl: a case report.
A 4-yr-old girl has exhibited severe snoring, restless sleep and increasing daytime sleepiness over the last 3 months. The physical examination showed that she was not obese but had kissing tonsils. Polysomnography demonstrated increased apnea-hypopnea index (AHI) of 5.2, and multiple sleep latency tests (MSLT) showed shortened mean sleep latency and one sleep-onset REM period (SOREMP). ⋯ Another sleep test showed normal AHI of 0.2, the mean sleep latency of 8 min, and two SOREMPs. Diagnosis of OSA to be effectively treated by surgery and narcolepsy without cataplexy was confirmed. Since young children exhibiting both OSA and narcolepsy can fail to be diagnosed with the latter, it's desirable to conduct MSLT when they have severe daytime sleepiness or fail to get better even with good treatment.
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J. Korean Med. Sci. · May 2013
Case ReportsA novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection.
A 14-month-old boy was transferred because of dilated and hypertrophied left ventricle, neutropenia, and developmental delay. After checking computed tomographic angiography with contrast-dye, the patient showed acute exacerbation and finally died from multi-organ failure despite intensive cares. ⋯ Pro76LeufsX7), which was inherited from his mother. Herein, we report a patient with Barth syndrome who had a novel mutation in TAZ gene and experienced unexpected acute exacerbation after contrast dye injection for computed tomographic angiography.
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J. Korean Med. Sci. · May 2013
Clinical significance of serum autoantibodies in idiopathic interstitial pneumonia.
Although autoantibodies are routinely screened in patients with idiopathic interstitial pneumonia, there are no reliable data on their clinical usefulness. The aim of this study was to investigate the prognostic value of autoantibodies for predicting the development of new connective tissue disease in these patients and also mortality. We conducted retrospective analysis of the baseline, and follow-up data for 688 patients with idiopathic interstitial pneumonia (526 with idiopathic pulmonary fibrosis, 85 with nonspecific interstitial pneumonia, and 77 with cryptogenic organizing pneumonia) at one single tertiary referral center. ⋯ No significant difference in patient survival was found between the autoantibody-positive and -negative groups. However, the presence of autoantibodies, especially antinuclear antibody with a titer higher than 1:320, was a significant predictor for the future development of new connective tissue diseases (relative risk, 6.4), although the incidence was low (3.8% of all subjects during follow-up). In conclusion, autoantibodies are significant predictors for new connective tissue disease development, although they have no prognostic value.