564 research outputs found

    Separation of the Tip of a Coblation Wand within the Knee Joint: A Complication of Arthroscopic Adhesiolysis

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    Coblation devices are now widely used in arthroscopic surgery and they show a very low incidence of intraoperative complications. We experienced a case where the tip of the wand separated and migrated into the posterior knee compartment in an arthrofibrotic knee. The free wand tip was identified and then extricated from the popliteal hiatus of the knee with using C-arm fluoroscopic control. To the best of our knowledge, this is the first report of its kind involving coblation wands. We describe this complication to show that the use of coblation devices can lead to unexpected problems and it is imperative to inspect all instruments before and after each surgical use

    Long Term Outcomes of Early Cochlear Implantation in Korea

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    ObjectivesThe objective of this study was to compare the long-term auditory performance and language skill depending on the age of cochlear implantation in the Korean population. We especially tried to separate the effect of maturation/development from that of the age at implantation.MethodsEighty-six pre-lingual children with profound hearing loss who underwent a cochlear implantation before the age of six and had been followed for more than 3 yr were included in this study prospectively. Categories of Auditory Performance (CAP) and Korean Picture Vocabulary Test (K-PVT) were serially followed up. In order to separate the age at implantation effect, K-PVT results were readjusted to the child's chronological age in the normal hearing population.ResultsWhen the CAP and K-PVT scores were directly compared without chronological readjustment, we failed to show a significant difference for improvements according to the age at implantation. Early cochlear implantation was associated with better language development, only when the K-PVT scores were readjusted to percentile scores of their chronological age.ConclusionEarly cochlear implantation was associated with better language development even within the critical period. This advantage may be recognized only when the effect of the age at implantation is separated from the effect of maturation/development

    A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome

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    BACKGROUND: Peutz-Jeghers syndrome (PJS) is an unusual autosomal dominant disorder characterized by mucocutaneous pigmentation and multiple gastrointestinal hamartomatous polyps. Patients with PJS are at an increased risk of developing multi-organ cancer, most frequently those involving the gastrointestinal tract. Germline mutation of the STK11 gene, which encodes a serine-threonine kinase, is responsible for PJS. METHODS: Using DNA samples obtained from the patient and his family members, we sequenced nine exons and flanking intron regions of the STK11 gene using polymerase chain reaction (PCR) and direct sequencing. RESULTS: Sequencing of the STK11 gene in the proband of the family revealed a novel 1-base pair deletion of guanine (G) in exon 6 (c.826delG; Gly276AlafsX11). This mutation resulted in a premature termination at codon 286, predicting a partial loss of the kinase domain and complete loss of the C-terminal domain. We did not observe this mutation in both parents of the PJS patient. Therefore, it is considered a novel de novo mutation. CONCLUSION: The results presented herein enlarge the spectrum of mutations of the STK11 gene by identifying a novel de novo mutation in a PJS patient and further support the hypothesis that STK11 mutations are disease-causing mutations for PJS with or without a positive family history

    A Korean Female Patient with Thiamine-responsive Pyruvate Dehydrogenase Complex Deficiency Due to a Novel Point Mutation (Y161C)in the PDHA1 Gene

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    Pyruvate dehydrogenase complex (PDHC) deficiency is mostly due to mutations in the X-linked E1α subunit gene (PDHA1). Some of the patients with PDHC deficiency showed clinical improvements with thiamine treatment. We report the results of biochemical and molecular analysis in a female patient with lactic acidemia. The PDHC activity was assayed at different concentrations of thiamine pyrophosphate (TPP). The PDHC activity showed null activity at low TPP concentration (1×10-3 mM), but significantly increased at a high TPP concentration (1 mM). Sequencing analysis of PDHA1 gene of the patient revealed a substitution of cysteine for tyrosine at position 161 (Y161C). Thiamine treatment resulted in reduction of the patient's serum lactate concentration and dramatic clinical improvement. Biochemical, molecular, and clinical data suggest that this patient has a thiamine-responsive PDHC deficiency due to a novel mutation, Y161C. Therefore, to detect the thiamine responsiveness it is necessary to measure activities of PDHC not only at high but also at low concentration of TPP

    Population-attributable causes of cancer in Korea : obesity and physical inactivity

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    Changes in lifestyle including obesity epidemic and reduced physical activity influenced greatly to increase the cancer burden in Korea. The purpose of the current study was to perform a systematic assessment of cancers attributable to obesity and physical inactivity in Korea. Gender- and cancer site-specific population-attributable fractions (PAF) were estimated using the prevalence of overweight and obesity in 1992-1995 from a large-scale prospective cohort study, the prevalence of low physical activity in 1989 from a Korean National Health Examination Survey, and pooled relative risk estimates from Korean epidemiological studies. The overall PAF was then estimated using 2009 national cancer incidence data from the Korea Central Cancer Registry. Excess body weight was responsible for 1,444 (1.5%) and 2,004 (2.2%) cancer cases among men and women, respectively, in 2009 in Korea. Among men, 6.8% of colorectal, 2.9% of pancreatic, and 16.0% of kidney cancer was attributable to excess body weight. In women, 6.6% of colorectal, 3.9% of pancreatic, 18.7% of kidney, 8.2% of postmenopausal breast, and 32.7% of endometrial cancer was attributable to excess body weight. Low leisure-time physical activity accounted for 8.8% of breast cancer, whereas the PAF for overall cancer was low (0.1% in men, 1.4% in women). Projections suggest that cancers attributable to obesity will increase by 40% in men and 16% in women by 2020. With a significantly increasing overweight and physically inactive population, and increasing incidence of breast and colorectal cancers, Korea faces a large cancer burden attributable to these risk factors. Had the obese population of Korea remained stable, a large portion of obesity-related cancers could have been avoided. Efficient cancer prevention programs that aim to reduce obesity- and physical inactivity-related health problems are essential in Korea

    Burden and future projection of revision Total hip Arthroplasty in South Korea

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    Background The annual number of hip arthroplasties is increasing combined with the aging population worldwide. In accordance with the increasing number of primary hip arthroplasties, the number of revision total hip arthroplasties (THAs) is expected to increase. The incidence and burden of revision THAs in the United States and have been reported by registry studies. To identify potential differences according to ethnics and regional practice, it is important to obtain data from East Asia. Nevertheless, there has been a lack of studies on the burden and future projection of revision THA based on a large-scale database in East Asia. The purpose of this study was to evaluate annual incidence and burden of revision THAs and to project the future burden in South Korea. Methods We identified primary THAs, primary hemiarthroplasties (HAs) and revision THAs, which were performed from 2010 to 2018, using database of Health Insurance and Review and Assessment (HIRA); nation-wide medical claim system of South Korea. The annual incidence rates (per 100,000) of primary THA, primary HA and revision THA, and the annual burden of revision THA; the number of revision THAs divided by the sum of primary hip arthroplasties and revision THAs, were calculated. The future burden of revision THAs were projected through 2030 using generalized linear model with Quasi-poisson regression. Results During the 9-year period, the annual incidences of primary THA, primary HA and revision THA increased by 47, 29 and 3%, respectively, while the revision burden decreased from 0.13 to 0.10. Compared to 2018, the annual incidences of primary THA, HA, and revision THA were projected to increase by 7.2, 2.3 and 1.1% per year, respectively, whereas the burden of revision THA was projected to decrease to 0.07 in 2030. Conclusion Trends of revision THA in South Korea were similar with those of national registry studies from the United States. The annual incidence of revision THA has steadily increased, whereas its burden has decreased. Findings of our study could be used for epidemiological comparison between Western countries and East Asia as well as for the establishment of medical policies of revision THA in East Asian countries.This study was funded by a grant of the Korea Health Technology R&D funded by the Ministry of Health & Welfare, Republic of Korea [grant number: HI18C0284]. The role of the funding by grant was in the access to and the analysis of the database
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