No abstract available.

No abstract available.

BACKGROUND: This prospective cohort study was carried out to investigate the relation of lifestyle variables to total mortality in residents aged 60-64 of a rural community in Korea. METHODS: A total of 1,042 residents was interviewed by face-to-face survey for baseline data collection in 1996 and 955 residents were successfully followed up until April 2002, among which 91 died. RESULTS: In univariate logistic regression, consumption of cigarette per day, duration of smoking, status of smoking, frequency of drinking per month, status of drinking, average duration of TV watching per day and average duration of sleeping were statistically significant, predicting total mortality. None of the variables reflecting leisure-time physical activities were statistically significant. Adjusting for sex, age, education, current as well as past chronic diseases history, and limitation of daily living with multiple logistic regression, those smoking more than 40 years and current smokers showed reduced, but statistically significant RRs, 1.89 (95% CI 1.05-3.41) and 1.82 (95% CI 1.01-3.25), respectively. Sleeping more than 10 hours a day showed RR, 2.41 (95% CI 1.11-5.22). CONCLUSION: These results suggested that some lifestyle variables, smoking and sleeping were predictive of total mortality while drinking, TV watching and leisure-time physical activities were not.
Chronic Disease ; Cohort Studies* ; Data Collection ; Drinking ; Education ; Korea ; Life Style* ; Logistic Models ; Mortality* ; Motor Activity ; Prospective Studies ; Rural Population* ; Smoke ; Smoking ; Tobacco Products

A 17-year-old male was presented withfpruritic grouped erythematous papules on the face, chest, upper back, both axillae, and genital area. The histologic picture of a benign papilloma and spongiosis around the acrosyringium were prominent findings. The term acrosyringeal epidermal nevus is proposed for this histological picture, and some explanations for its pathogenesis are suggested.
Adolescent ; Axilla ; Humans ; Male ; Nevus* ; Papilloma ; Thorax

The purpose of this study is to see the value of transsectional morphology of polyethylene for evaluation of wear and characteristics of ultra-high molecular weight polyethylene. Retrieved nineteen polyeth- ylene tibial components were examined for this study. Ten components were the directly molded 1900 Himont polyethylene, and 9 components were the machined GUR 415 polyethylene. Transsection of polyethylene(thickness: 60 - 150 micron) was obtained by microtome and was examined microscopical- ly for the fusion defects, subsurface white bands, and delamination as a mode of wear. Significant differ- ences between two groups of polyethylene were found. Fusion defects greater than 100 micron were observed in 5 among 9 GUR 415 polyethylene. Subsurface white band were observed in 7 among 9 GUR 415 polyethylene. Delamination was found in 6 arnong 9 GUR 415 polyethylene. Neither fusion defects greater than 100 micron, nor delamination were observed in 1900 Himont polyethylene. Morphological examination of polyethylene section is an efficient way to differentiate the polyethylene and to evaluate the wear behavior of retrieved polyethylene. This study suggests that delamination of polyethylene tibial components is influenced by resin type and / or manufacturing method.
Arthroplasty* ; Fungi ; Knee* ; Molecular Weight ; Polyethylene*

Systemic lupus erythematosus (SLE) is a multisystemic disease that can involve the gastrointestinal tract, liver, and biliary system. Symptomatic pancreatic involvement, however, has rarely been reported. It may be part of the primary disease process, such as vasculitic or autoimmune etiology, or associated with drug therapy, in particular corticosteroid. We report here a lupus patient who developed severe pancreatitis within 30 hours of initiation of corticosteroid therapy; we also discuss the relation between pancreatitis and systemic lupus erythematosus.
Biliary Tract ; Drug Therapy ; Gastrointestinal Tract ; Humans ; Liver ; Lupus Erythematosus, Systemic* ; Pancreatitis*

Maple syrup urine disease (MSUD) is a disorder that involves the metabolism of branched chain amino acids, arising from a defect in branched-chain alpha-keto acid dehydrogenase complex. Mutations have been identified in the BCKDHA, BCKDHB, or DBT genes, which encode different subunits of the BCKDH complex. Although encephalopathy and progressive neurodegeneration are its major manifestations, the severity of the disease may range from the severe classic type to milder intermediate variants. We report two Korean siblings with the milder intermediate MSUD who were diagnosed with MSUD by a combination of newborn screening tests using tandem mass spectrometry and family genetic screening for MSUD. At diagnosis, the patients' plasma levels were elevated for leucine, isoleucine, valine, and alloisoleucine, and branched-chain alpha-keto acids and branched-chain alpha-hydroxy acids were detected in their urine. BCKDHA, BCKDHB, and DBT analysis was performed, and two novel mutations were identified in BCKDHB. Our patients were thought to have the milder intermediate variant of MSUD, rather than the classic form. Although MSUD is a typical metabolic disease with poor prognosis, better outcomes can be expected if early diagnosis and prompt management are provided, particularly for milder forms of the disease.
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) ; Amino Acids ; Diagnosis ; Early Diagnosis ; Genetic Testing ; Humans ; Infant, Newborn ; Isoleucine ; Leucine ; Maple Syrup Urine Disease* ; Mass Screening ; Metabolic Diseases ; Metabolism ; Plasma ; Prognosis ; Siblings* ; Tandem Mass Spectrometry ; Valine

Antley-Bixler syndrome (ABS) is a rare form of syndromic craniosynostosis with additional systemic synostosis, including radiohumeral or radioulnar synostosis. Another characteristic feature of ABS is mid-facial hypoplasia that leads to airway narrowing after birth. ABS is associated with mutations in the FGFR2 and POR genes. Patients with POR mutations present with either skeletal manifestations or congenital adrenal hyperplasia with ambiguous genitalia. We report here two cases of ABS caused by mutations in FGFR2 and POR. Although the patients had craniosynostosis and radiohumeral synostosis in common and cranioplasty was performed in both cases, the male with POR mutations showed an elevated level of 17α-hydroxyprogesterone during newborn screening and was diagnosed with congenital adrenal hyperplasia by adrenocorticotropic hormone stimulation. This patient has been treated with hydrocortisone and fludrocortisone. He had no ambiguous genitalia but had bilateral cryptorchidism. On the other hand, the female with the FGFR2 mutation showed severe clinical manifestations: upper airway narrowing leading to tracheostomy, kyphosis of the cervical spine, and coccyx deformity. ABS shows locus heterogeneity, and mutations in two different genes can cause similar craniofacial and skeletal phenotypes. Because the long-term outcomes and inheritance patterns of the disease differ markedly, depending on the causative mutation, early molecular genetic testing is helpful.
Adrenal Hyperplasia, Congenital ; Adrenocorticotropic Hormone ; Antley-Bixler Syndrome Phenotype* ; Coccyx ; Congenital Abnormalities ; Craniosynostoses ; Cryptorchidism ; Disorders of Sex Development ; Female ; Fludrocortisone ; Hand ; Humans ; Hydrocortisone ; Infant, Newborn ; Inheritance Patterns ; Kyphosis ; Male ; Mass Screening ; Molecular Biology ; Parturition ; Phenotype ; Population Characteristics ; Spine ; Synostosis ; Tracheostomy

Pseudoaneurysm is one of the undesirable complications of interventional cardiology procedures involving peripheral puncture site. Nowadays, it is not uncommon as a consequences of more complex interventional preocedures, larger catheters and prolonged anticoagulation treatment. Surgical repair has been mainstay of treatment for pesudoaneurysm. However, sucessful closures of pseudoaneurysms have been reported recently by using direct compression guided by color doppler ultrasound. We report a case of pseudoaneurysm in femoral artery, which was developed at the right inguinal puncture site in 38 year old male patient with unstabel angina who had received continuous intravenous infusion of heparin and had undergone coronary angiography treated successfully with direct compression guided by color doppler ultrasound.
Adult ; Aneurysm, False* ; Cardiology ; Catheters ; Coronary Angiography ; Femoral Artery* ; Heparin ; Humans ; Infusions, Intravenous ; Male ; Punctures ; Ultrasonography*

Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease, caused by defective transport of dibasic amino acids. Failure to thrive, hepatosplenomegaly, hematological abnormalities, and hyperammonemic crisis are major clinical features. However, there has been no reported Korean patient with LPI as of yet. We recently encountered a 3.7-yr-old Korean girl with LPI and the diagnosis was confirmed by amino acid analyses and the SLC7A7 gene analysis. Her initial chief complaint was short stature below the 3rd percentile and increased somnolence for several months. Hepatosplenomegaly was noted, as were anemia, leukopenia, elevated levels of ferritin and lactate dehydrogenase, and hyperammonemia. Lysine, arginine, and ornithine levels were low in plasma and high in urine. The patient was a homozygote with a splicing site mutation of IVS4+1G > A in the SLC7A7. With the implementation of a low protein diet, sodium benzoate, citrulline and L-carnitine supplementation, anemia, hyperferritinemia, and hyperammonemia were improved, and normal growth velocity was observed.
Amino Acid Metabolism, Inborn Errors/complications/diet therapy/*genetics ; Antifungal Agents/therapeutic use ; Antigens, CD98 Light Chains/genetics ; Asian Continental Ancestry Group/*genetics ; Carnitine/therapeutic use ; Child, Preschool ; Citrulline/therapeutic use ; Diet, Protein-Restricted ; Disorders of Excessive Somnolence/complications/*diagnosis/drug therapy ; Female ; Growth Disorders/complications/*diagnosis ; Homozygote ; Humans ; Hypercalcemia/complications/*diagnosis ; Metabolic Diseases/complications/*diagnosis ; Mutation ; Nephrocalcinosis/complications/*diagnosis ; Republic of Korea ; Sequence Analysis, DNA ; Sodium Benzoate/therapeutic use ; Vitamin B Complex/therapeutic use