Apert described acrocephalosyndactyly as a clinical entity in 1906. At first he included a patient with craniofacial deformities combined with syndactyly of both the upper and lower extremities. This is a rare congenital disturbance in the growth of bone and soft tissue affecting principally the head, the hands and the feet. More than 200 cases have been reported in the world literature, and three cases in Korea. Authors experienced one case of the classic pattern of Apert's syndrome and treated surgically for syndsctyly.
Acrocephalosyndactylia ; Congenital Abnormalities ; Foot ; Hand ; Head ; Humans ; Korea ; Lower Extremity ; Syndactyly

Serum is free of cellular components. Because DNA is located in the nuclei or mitochondria of cells, serum could be assumed DNA free. Few previously published case reports to date have used serum for DNA typing. Here, we report on human genotyping via short tandem repeat (STR) analysis using serum as a sample, and discuss problems involved in the process.
DNA Fingerprinting* ; DNA* ; Humans ; Microsatellite Repeats* ; Mitochondria

No abstract available.
Nasal Bone*

No abstract available.
Skin Neoplasms* ; Skin*

BACKGROUND: To assess the incidence of venous thromboembolism (VTE) following shoulder surgery and to evaluate the role of postoperative duplex ultrasonography. METHODS: The study comprised a total of 224 patients who underwent shoulder surgery, including 180 shoulder arthroscopic surgeries, 28 shoulder arthroplasties, and 16 plate fixations for proximal humerus fracture between January 2014 and December 2014. The mean age of patients was 59.0 years, and there were 81 men and 143 women. Clinical data, including body mass index, blood tests, metabolic work-up for liver and renal function, previous, and present medical history, were evaluated. Duplex ultrasonography in the operative arm was performed on 2 to 4 days after surgery. RESULTS: The overall incidence of VTE following shoulder surgery was 0.45% (1/224). One patient with open reduction and plate fixation for proximal humerus fracture had asymptomatic deep vein thrombosis that showed complete remission after anticoagulant medication during a 2-month period. Four patients had asymptomatic superficial cephalic vein thrombosis and complete remission without any treatment. There was no case of pulmonary embolism. CONCLUSIONS: The incidence of VTE following shoulder surgery was extremely low in Asians. Duplex ultrasonography may be not considered a routine follow-up of shoulder surgery and can be selectively performed in high-risk or symptomatic patients for VTE.
Arm ; Arthroplasty ; Arthroscopy ; Asian Continental Ancestry Group ; Body Mass Index ; Female ; Follow-Up Studies ; Hematologic Tests ; Humans ; Humerus ; Incidence* ; Liver ; Male ; Pilot Projects* ; Pulmonary Embolism ; Shoulder* ; Thrombosis ; Ultrasonography ; Veins ; Venous Thromboembolism* ; Venous Thrombosis

Thrombomodulin (TM) is thrombin receptor present on the luminal surface of endothelial cells. Because the thrombin-TM complex acts as an anticoagulant, the functional variants or deficiency of TM may lead to increment of thrombotic tendency. In this study, we screened the genetic variants of the TM gene in patients with myocardial infarction (MI) and analyzed the genotype to elucidate the effects of genetic variations of TM gene on the development of the MI. We screened a promoter region and coding sequence of the TM gene using single strand conformation polymorphism-heteroduplex analysis and identified three common genetic variants: those were TM G-33A, TM Ala455Val, and TM C1922T. The genotype frequencies were investigated in the patients with MI (n=234) and control subjects (n=291) by the method of allele-specific oligomer hybridization. The frequencies of mutant genotypes (TM -33A, TM 455Val, and TM 1922T) were higher in patient group compared to the control subjects in males while there were no significant differences in females. In the multiple logistic regression analysis, TM 455Val and TM 1922T alleles were independent risk factors for MI (OR[95% CI: 1.799[1.125-2.878] p=0.014 and 5.624[1.019-31.025], p=0.048, respectively) in males. However, the genetic variations were not independent risk factors for MI in females. There were significant linkage disequilibriums among three genetic variants. These linkage disequilibriums explain the similar effects of three genetic variants on the development of MI. To investigate the effect of the TM G-33A mutation on TM promoter activity, the two TM promoter constructs (pTM-355 and pTM-125, bearing TM -33G or TM -33A) containing of firefly luciferase gene were transfected into HepG2, BAE, and CHO cells. The promoter activities were higher in the promoter constructs with TM -33G compared to the constructs with TM -33A in pTM-355. These results suggest the possibility of the positive predisposing effect of TM -33A allele on MI in males. The functional study for TM Ala455Val and TM C1922T should be followed to elucidate the genotype effects of these mutations on the development of MI. In this study, we identified three genetic variants of TM gene and showed the significant associations between genetic variants and MI in males. These results proposed that TM gene is an attractive candidate for genetic risk factor for MI in Koreans.
Alleles ; Animals ; CHO Cells ; Clinical Coding ; Cricetinae ; Endothelial Cells ; Female ; Fireflies ; Genetic Variation ; Genotype ; Humans ; Linkage Disequilibrium ; Logistic Models ; Luciferases ; Male ; Myocardial Infarction* ; Phenobarbital ; Promoter Regions, Genetic ; Receptors, Thrombin ; Risk Factors* ; Thrombomodulin

Calvarium protects the brain, the most important organ. The defect of calvarium results in not only deformity but also fatal injury from the trauma. The cranial bone defects result from 1) removal of bone flap for intracranial decompression or infection 2) fracture 3) excision of tumor 4) craniectomy for craniosynostosis. The goals of cranioplasty are to protect the brain from trauma and make the aesthetically acceptable contour. From 1990 to 1995, we experienced twelve cases of cranioplasty using autogenous bone graft; 5 cases with rib bone, 3 cases with iliac bone, 2 cases with calvarial bone, and 2 cases with rib and calvarial bones. The result was very excellent without any significant complications.
Brain ; Congenital Abnormalities ; Craniosynostoses ; Decompression ; Ribs ; Skull ; Transplants*

PURPOSE: This study was to analyze the level of quality of life and sexual function of Hematopoietic Stem Cell Transplantation (HSCT) recipients. METHOD: Participants included 38 recipients of HSCT, attending hospital outpatient department. Data were collected using the quality of life scale and the sexual function scale. Data were analyzed using Descriptive statistics, t-test, ANOVA, Sheffe test, and Kruskal-Wallis test. RESULTS: The high score of quality of life was found in the participants with the 30s age (p=0.030), being employed (p=0.001), not having admission history after HSCT (p=0.012), and not having medication (p=0.017). The sexual function was significantly influenced by employment status (p=0.001) and irradiation therapy (p=0.043). There was a significant correlation between the quality of life and the sexual function (r=0.45, p=0.004). CONCLUSION: The sexual function have influence on the quality of life so that it is required to develop nursing interventions for sexual function to improve the quality of life of HSCT recipients.
Employment ; Hematopoietic Stem Cell Transplantation ; Humans ; Outpatients ; Quality of Life ; Sexuality

Proteinuria is common in pediatric and adolescent patients. Proteinuria is defined as urinary protein excretion at levels higher than 100-150 mg/m²/day in children. It can be indicative of normal or benign conditions as well as numerous types of severe underlying renal or systemic disease. The school urine screening program has been conducted in Korea since 1998. Since then, numerous patients with normal or benign proteinuria as well as early stage renal diseases have been referred to the hospital. Benign proteinuria includes orthostatic proteinuria and transient proteinuria. Most causes of proteinuria can be categorized into 3 types: 1) overflow, 2) tubular, and 3) glomerular. Although treatment should be directed at the underlying cause of the proteinuria, prompt evaluation, diagnosis, and long-term monitoring of these pediatric patients can prevent potential progression of the underlying disease process. This article provides an overview of proteinuria: its causes, methods of assessment, and algorithmic suggestions to differentiate benign from pathologic renal disease.
Adolescent ; Child* ; Diagnosis ; Humans ; Korea ; Mass Screening ; Proteinuria*

Proteinuria is common in pediatric and adolescent patients. Proteinuria is defined as urinary protein excretion at levels higher than 100-150 mg/m²/day in children. It can be indicative of normal or benign conditions as well as numerous types of severe underlying renal or systemic disease. The school urine screening program has been conducted in Korea since 1998. Since then, numerous patients with normal or benign proteinuria as well as early stage renal diseases have been referred to the hospital. Benign proteinuria includes orthostatic proteinuria and transient proteinuria. Most causes of proteinuria can be categorized into 3 types: 1) overflow, 2) tubular, and 3) glomerular. Although treatment should be directed at the underlying cause of the proteinuria, prompt evaluation, diagnosis, and long-term monitoring of these pediatric patients can prevent potential progression of the underlying disease process. This article provides an overview of proteinuria: its causes, methods of assessment, and algorithmic suggestions to differentiate benign from pathologic renal disease.
Adolescent ; Child* ; Diagnosis ; Humans ; Korea ; Mass Screening ; Proteinuria*