BACKGROUND: Oculocutaneous albinism (OCA) is a genetic disorder of the melanin pigment system in which melanin synthesis is reduced or absent in the skin, hair, and eyes. OCA is classified into two major types, and tyrosinase-related OCA can be produced by mutations of the structural gene for tyrosinase enzyme (TYR gene). OBJECTIVE: The purpose of this study was to analyze the segregation of mutant alleles of the TYR gene in tyrosinase-negative and tyrosinase-positive Korean OCA patients and families. METHODS: We amplified exon I, II, and III of the TYR gene of Korean OCA patients and their families by polymerase chain reactions (PCR), and analyzed the mutations by restriction fragment length polymorphism (RFLP) analysis in exon I and single-strand conformation polymorphism (SSCP) analyses in exon II and exon III. RESULTS: Two tyrosinase-negative cases showed mutations in exon I. Four tyrosinase-nega-tive cases and one tyrosinase-positive case showed mutations in exon II, and one tyrosinase-neg- ative case showed mutations in exon III. In summary, we found three kinds of mutation in four tyrosinase-negative OCA patients and one tyrsinase-positive OCA patient. CONCLUSIONS: RFLP and SSCP analysis can provide a basis for a rapid and sensitive screening system to detect TYR gene mutations of Korean OCA patients and their families.
Albinism, Oculocutaneous* ; Alleles ; Exons ; Hair ; Humans ; Korea* ; Mass Screening ; Melanins ; Monophenol Monooxygenase ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single-Stranded Conformational ; Skin

Inhibition of K⁺ outward currents by linopirdine in the outer hair cells (OHCs) of circling mice (homozygous (cir/cir) mice), an animal model for human deafness (DFNB6 type), was investigated using a whole cell patch clamp technique. Littermate heterozygous (+/cir) and ICR mice of the same age (postnatal day (P) 0 –P6) were used as controls. Voltage steps from –100 mV to 40 mV elicited small inward currents (–100 mV~–70 mV) and slow rising K⁺ outward currents (–60 mV ~40 mV) which activated near –50 mV in all OHCs tested. Linopirdine, a known blocker of K⁺ currents activated at negative potentials (I(K,n)), did cause inhibition at varying degree (severe, moderate, mild) in K⁺ outward currents of heterozygous (+/cir) or homozygous (cir/cir) mice OHCs in the concentration range between 1 and 100 µM, while it was apparent only in one ICR mice OHC out of nine OHCs at 100 µM. Although the half inhibition concentrations in heterozygous (+/cir) or homozygous (cir/cir) mice OHCs were close to those reported in I(K,n), biophysical and pharmacological properties of K⁺ outward currents, such as the activation close to –50 mV, small inward currents evoked by hyperpolarizing steps and TEA sensitivity, were not in line with I(K,n) reported in other tissues. Our results show that the delayed rectifier type K⁺ outward currents, which are not similar to I(K,n) with respect to biophysical and pharmacological properties, are inhibited by linopirdine in the developing (P0~P6) homozygous (cir/cir) or heterozygous (+/cir) mice OHCs.
Animals ; Deafness ; Hair Cells, Auditory, Outer* ; Humans ; Mice* ; Mice, Inbred ICR ; Models, Animal ; Tea

BACKGROUND: In a study, iris color was positively associated with skin melanin content. So it could be assumed that iris color has a close relationship with skin color. But until recently, classification system of iris color has been subjective and not suitable especially for Asian population for their relative homogeneity of iris color. OBJECTIVE: The purpose of this study was to devise an objective and quantitative method to measure iris and skin color quantitatively and to assess the relationship and its significance. METHODS: We devised photographic system composed of digital camera and tungsten lamp with color temperature conversion filter to acquire adequate iris images for colorimetric investigations. The reference CIELAB coordinates of color chart recorded with reflectance spectrophotometer were compared statistically with computed CIELAB coordinates from digital images in order to find equations for calibrating CIELAB values. To find the dermatological significance, we took pictures of 47 Korean patients with various conditions. They were evaluated with regard to iris color, color of sun-exposed and sun-protected skin. RESULTS: The images obtained with this system were enough to be used for the assessment of iris and skin color. And, it was possible to quantify the iris color, skin color and its difference in colorimetric ways using the methods in this study. Lightness (L*) of sun-exposed skin is decreased to the age. L* of iris has a positive correlation with L* of sun-exposed skin. L* of iris was positively correlated with a* and b* of iris respectively. The relations were very similar with those between L* of iris and each of a* and b* of sun-protected skin. CONCLUSION: Iris color could be assessed by using their images colorimetrically obtained by our method. As L* of iris color has the similar relations with a* and b* in both iris and sun-protected skin, the iris color would be a clue to look for and define the constitutional skin color.
Asian Continental Ancestry Group ; Colorimetry ; Humans ; Iris ; Light ; Melanins ; Skin ; Tungsten

PURPOSE: To evaluate the therapeutic effect and safety of mycophenolate mofetil (MMF) on chronic uveitis in Korean patients. METHODS: This study included 25 patients with chronic uveitis who used MMF and were followed up more than 6 months in 2 referral centers from 2010 to 2014. The medical records were analyzed retrospectively. The therapeutic effect was assessed based on control of inflammation, corticosteroid sparing effects, and discontinuation of MMF, and the safety was assessed based on side effects. Control of inflammation was defined as no active inflammation observed on at least 2 consecutive visits 28 days apart or more. RESULTS: The 25 patients consisted of 18 males and 7 females. The mean age of the patients was 47.52 years. The etiology of uveitis was as follows: Behcet's disease in 15 patients (60%), Vogt-Koyanagi-Harada disease in 4 (16%), sympathetic ophthalmia in 2 (8%), systemic lupus erythematosus in 1 (4%), and idiopathic uveitis in 3 (12%). Anatomic classification was anterior uveitis in 20% and posterior uveitis or panuveitis in 80% of patients. Complete control of inflammation was achieved in 44% and 50% of patients within 6 months and 1 year, respectively. Systemic corticosteroid dosage was reduced to 10 mg of prednisone or less while maintaining sustained control of inflammation in 36% and 45% of patients for 6 months and 1 year, respectively. MMF was discontinued in 3 patients (12%) due to side effects and in 2 patients (8%) due to lack of effectiveness. CONCLUSIONS: MMF was effective and side effects were uncommon when managing chronic uveitis in Korean patients.
Classification ; Female ; Humans ; Inflammation ; Lupus Erythematosus, Systemic ; Male ; Medical Records ; Ophthalmia, Sympathetic ; Panuveitis ; Prednisone ; Referral and Consultation ; Retrospective Studies ; Uveitis* ; Uveitis, Anterior ; Uveitis, Posterior ; Uveomeningoencephalitic Syndrome

PURPOSE: Bony resection of the proximal medial tibia, an alternative technique for soft tissue balancing in total knee arthroplasty (TKA), was compared to the conventional medial soft tissue release technique. MATERIALS AND METHODS: From June 2005 to June 2007, we performed 40 TKA in 27 patients with > or =10degrees tibio-femoral varus deformity. The conventional, medial soft tissue release technique was applied in 20 cases and bony resection of proximal medial tibia in the other 20 cases (vertical osteotomy group). Total operation time, knee range of motion (ROM), hospital for special surgery (HSS) scores, and tibio-femoral medial-lateral gap ratio in 0degrees, 90degrees, and 130degrees flexion at postoperative 6 months were compared between the groups. RESULTS: The total operation time was shorter in the vertical osteotomy group. Tibio-femoral medial-lateral gap ratio in 130degrees flexion was closer to 1 in the vertical osteotomy group (p=0.000). There was no significant difference in the ROM, HSS score, or tibio-femoral medial-lateral gap ratio in 0degrees and 90degrees flexion at postoperative 6 months. CONCLUSIONS: In severe varus knees, bony resection of proximal medial tibia can be considered as an alternative technique, in order to decrease total operation time and to obtain medial-lateral, soft-tissue balance in deep flexion.
Arthroplasty ; Congenital Abnormalities ; Humans ; Knee ; Ligaments ; Osteotomy ; Range of Motion, Articular ; Tibia

Purpose: Significant improvements have been made in the surgical treatment of rectal cancer with a higher sphinctersaving rate without compromising oncologic results. There have been studies about the quality of life of rectal cancer patients after surgery. However, no study has reported the long-term annual incidence of depression after rectal cancer surgery according to stoma status. The objective of this study was to determine the annual incidence of depression after rectal cancer surgery and the factors affecting it, especially the prevalence of depression according to the presence or duration of a stoma. Methods: Using the Korea National Health Insurance Service database, patients who underwent radical surgery for rectal cancer from 2002 to 2019 were searched. We analyzed the incidence and risk factors of depression in patients who underwent radical surgery for rectal cancer according to stoma status. Results: Annual incidence of depression in rectal cancer patients was decreasing annually for 15 years after surgery. There was no statistically significant difference in the incidence of depression according to the stoma status. However, the diagnosis of depression within 1 year after surgery was statistically significantly increased in the permanent stoma group. Conclusion There was no difference in the overall incidence of depressive disorders among patients with rectal cancer based on their stoma status. However, a permanent stoma seems to increase the incidence in the first year after surgery. Education and intensive assessments of depressive disorders in patients with permanent stoma within 1 year after surgery are needed, particularly for female patients who are under 50 years old.

K+ outward currents in the outer hair cells (OHCs) of circling mice (homozygous (cir/cir) mice), an animal model for human deafness (DFNB6 type), were investigated using a whole cell patch clamp technique. Littermate heterozygous (+/cir) mice of the same age (postnatal day (P) 0 -P6) were used as controls. Similar slow rising K+ currents were observed in both genotypes, but their biophysical and pharmacological properties were quite different. The values of V(half) for activation were significantly different in the heterozygous (+/cir) and homozygous (cir/cir) mice (-8.1+/-2.2 mV, heterozygous (+/cir) mice (n=7) and -17.2+/-4.2 mV, homozygous (cir/cir) mice (n=5)). The inactivation curve was expressed by a single first order Boltzmann equation in the homozygous (cir/cir) mice, while it was expressed by a sum of two first order Boltzmann equations in the heterozygous (+/cir) mice. The K+ current of homozygous (cir/cir) mice was more sensitive to TEA in the 1 to 10 mM range, while the 4-AP sensitivities were not different between the two genotypes. Removal of external Ca2+ did not affect the K+ currents in either genotype, indicating that the higher sensitivity of K+ current to TEA in the homozygous (cir/cir) mice was not due to an early expression of Ca2+ activated K+ channels. Our results suggest that the K+ outward current of developing homozygous (cir/cir) mice OHCs is different in both biophysical and pharmacological aspects than that of heterozygous (+/cir) mice.
Animals ; Deafness ; Genotype ; Hair* ; Humans ; Mice* ; Models, Animal ; Potassium Channels, Calcium-Activated ; Tea

We presented a case which showed clinical improvements after fabricating new ortho-prosthesis to a patient with severe leg length inequality. He was 51 years old and had developed the leg length inequality on the right due to osteomyelitis that he experienced when he was seven. He had been using the orthosis fabricated by a private orthotic shop for more than twenty years from his twenties. We prescribed a new ortho-prosthesis composed of patellar tendon bearing ankle foot orthosis combined with endoskeletal shank and dynamic SACH foot. With this new ortho-prosthesis, there were significant improvements in initial abnormal gait patterns of excessive knee flexion at mid-stance and decreased maximal knee flexion peak at swing phase in the kinematic parameters on transverse plane. And step width, step length and step time were also improved. He got pain relief and improvement of gait endurance
Ankle ; Foot ; Foot Orthoses ; Gait ; Humans ; Knee ; Leg Length Inequality* ; Leg* ; Middle Aged ; Orthotic Devices ; Osteomyelitis ; Patellar Ligament

PURPOSE: Barriers to cardiopulmonary resuscitation (CPR) education are magnified by relative cost and course availability. E-learning has emerged as a viable solution for continuous, on-demand training and organizational learning. We assessed the hypothesis that E-learning is a viable strategy for CPR training of the general public and sought to evaluate its effects on CPR quality compared to traditional classroom-based methods. METHODS: The E-learning program was specifically designed to teach basic life support skills, and consisted of 50 minutes internet lectures and simulation videos. The training session was freely available to twenty two officers in rural South Korea. The trainees were able to practice with a mannequin and an automated external defibrillator (AED) trainer at their place of employment over the course of 3 days. The control group was trained at a hospital by certified instructors using the same equipment during a 2 hour period. At the end of the course, the participant's skills were evaluated using a checklist and a skill performance test. RESULTS: Forty two subjects were enrolled finally with 19 and 23 belonging to the E-learning and the control groups, respectively. One E-learning trainee was excluded because he was absent from the skills test. The mean time to learn CPR and AED techniques was 29.0+/-24.5 minutes in the elearning group. The mean age of the E-learning group was significantly older than that of the control group (32.4+/-4.0 vs. 26.0+/-1.5, p<0.001). However, we did not find any significant differences in their weight, height or CPR educational status. Before the education sessions, the willingness to perform CPR and their confidence in performing CPR were not significantly different among the two groups. Regarding skill performance, there were no significant differences between the groups except the volume of ventilation. The control group showed a higher volume of ventilation than the elearning group (1,031.7+/-521.6 vs. 548.8+/-303.3, p=0.004). CONCLUSION: E-learning accompanied with appropriate practice can be a helpful tool for public CPR training. The demand for E-learning will increase, and this study shows that e-learning programs can be successful, yielding similar results as traditional, classroom-based training.
Cardiopulmonary Resuscitation ; Checklist ; Defibrillators ; Education, Distance ; Educational Status ; Employment ; Hypogonadism ; Internet ; Learning ; Lectures ; Life Support Care ; Manikins ; Mitochondrial Diseases ; Ophthalmoplegia ; Republic of Korea ; Ventilation

PURPOSE: Barriers to cardiopulmonary resuscitation (CPR) education are magnified by relative cost and course availability. E-learning has emerged as a viable solution for continuous, on-demand training and organizational learning. We assessed the hypothesis that E-learning is a viable strategy for CPR training of the general public and sought to evaluate its effects on CPR quality compared to traditional classroom-based methods. METHODS: The E-learning program was specifically designed to teach basic life support skills, and consisted of 50 minutes internet lectures and simulation videos. The training session was freely available to twenty two officers in rural South Korea. The trainees were able to practice with a mannequin and an automated external defibrillator (AED) trainer at their place of employment over the course of 3 days. The control group was trained at a hospital by certified instructors using the same equipment during a 2 hour period. At the end of the course, the participant's skills were evaluated using a checklist and a skill performance test. RESULTS: Forty two subjects were enrolled finally with 19 and 23 belonging to the E-learning and the control groups, respectively. One E-learning trainee was excluded because he was absent from the skills test. The mean time to learn CPR and AED techniques was 29.0+/-24.5 minutes in the elearning group. The mean age of the E-learning group was significantly older than that of the control group (32.4+/-4.0 vs. 26.0+/-1.5, p<0.001). However, we did not find any significant differences in their weight, height or CPR educational status. Before the education sessions, the willingness to perform CPR and their confidence in performing CPR were not significantly different among the two groups. Regarding skill performance, there were no significant differences between the groups except the volume of ventilation. The control group showed a higher volume of ventilation than the elearning group (1,031.7+/-521.6 vs. 548.8+/-303.3, p=0.004). CONCLUSION: E-learning accompanied with appropriate practice can be a helpful tool for public CPR training. The demand for E-learning will increase, and this study shows that e-learning programs can be successful, yielding similar results as traditional, classroom-based training.
Cardiopulmonary Resuscitation ; Checklist ; Defibrillators ; Education, Distance ; Educational Status ; Employment ; Hypogonadism ; Internet ; Learning ; Lectures ; Life Support Care ; Manikins ; Mitochondrial Diseases ; Ophthalmoplegia ; Republic of Korea ; Ventilation