PURPOSE: Leber hereditary optic neuropathy (LHON) is one of the most common hereditary optic neuropathies caused by mutations of mitochondrial DNA. Three common mitochondrial mutations causing LHON are m.3460, m.11778, and m.14484. We report a rare mutation of the mitochondrial tRNA (Leu [UUR]) gene (MT-TL1) (m.3268 A > G) in a patient with bilateral optic atrophy. CASE SUMMARY: A 59-year-old female diagnosed with glaucoma 3 years earlier at a community eye clinic presented to our neuro-ophthalmology clinic. On examination, her best corrected visual acuity was 0.4 in the right eye and 0.7 in the left eye, and optic atrophy was noticed in both eyes. Optical coherence tomography revealed retinal nerve fiber layer (RNFL) thinning in both eyes; average RNFL thickness was 52 µm in the right eye and 44 µm in the left eye, but the papillomacular bundle was relatively preserved in both eyes. Goldmann perimetry demonstrated peripheral visual field defects, mostly involving superotemporal visual field in both eyes. Mitochondrial DNA mutation test showed an unusual mutation in MT-TL1 gene seemingly related to this optic neuropathy. CONCLUSIONS: We found a rare mutation (m.3268 A > G) of the mitochondrial DNA in a patient having bilateral optic atrophy, which led to the diagnosis of LHON. There have been previous reports about mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and infantile myopathy caused by MT-TL1 mutation, but this is the first case of LHON associated with the same mutation. In this case of LHON associated with MT-TL1 mutation, atypical clinical features were observed with a relatively mild phenotype and peripheral visual field defects.
Diagnosis ; DNA, Mitochondrial ; Female ; Glaucoma* ; Humans ; MELAS Syndrome ; Middle Aged ; Muscular Diseases ; Nerve Fibers ; Optic Atrophy ; Optic Atrophy, Hereditary, Leber* ; Optic Nerve Diseases ; Phenotype ; Retinaldehyde ; RNA, Transfer ; Tomography, Optical Coherence ; Visual Acuity ; Visual Field Tests ; Visual Fields

PURPOSE: With the advances in diagnostic and interventional radiology, emergency physicians have been frequently confronted with radiocontrast media (RCM)-induced anaphylaxis. However, few studies have addresses RCMinduced anaphylaxis in Korea. The aim of this study was to describe the clinical features and treatment patterns of RCM-induced anaphylaxis patients who visited an emergency department (ED) in a tertiary referral hospital. METHODS: All patients who visited the ED and were diagnosed with "anaphylaxis" during a 3-year period were evaluated and cases of RCM-induced anaphylaxis were selected based on medical records. RESULTS: Twenty patients with RCM-induced anaphylaxis were retrospectively analyzed. Nine patients (45.0%) were male and the mean age was 59.5+/-14.9 years. Eighteen patients were referred following computed tomography (CT) examination and 2 patients from home. The most common manifestations were systolic blood pressure (SBP) < 90 mmHg (75.0%), followed by dizziness (55.0%), syncope (40.0%), angioedema (35.0%), and dyspnea (35.0%). Epinephrine was administered in 16 patients (80.0%), corticosteroids in 18 (90.0%), and antihistamine in 18 (90.0%). Only 4 patients (22.2%) were managed by epinephrine in the CT room. Seventeen patients were discharged directly from the ED after some observation period (7.3+/-5.0 hours) and 3 were admitted to the ICU. Corticosteroids were prescribed at discharge only in 9 patients (45.0%). CONCLUSION: The clinical features of RCM-induced anaphylaxis were similar to those of other causative agents. The underuse of epinephrine in the CT room and the under-prescription of corticosteroids at discharge indicate a need for anaphylaxis management education and treatment plan.
Adrenal Cortex Hormones ; Anaphylaxis ; Angioedema ; Blood Pressure ; Contrast Media ; Dizziness ; Dyspnea ; Emergencies ; Epinephrine ; Humans ; Korea ; Male ; Medical Records ; Radiology, Interventional ; Referral and Consultation ; Retrospective Studies ; Syncope

PURPOSE: The purpose of this work was to describe the results of treatment for motor vehiclerelated crushing injuries among children and adolescents under sixteen years in Korea. MATERIALS AND METHODS: A retrospective analysis was conducted of data from children who were under sixteen year and injured foot by motor vehicles. Cases were documented 1) age at the time of injury, 2) injured site, 3) the area of accident, 4) the kind of vehicle, 5) associated injuries, 6) methods of treatment for soft tissue reconstruction and 7) complications. The relationships between the area of accident and associated injuries, and the kind of vehicle and associated injuries were analyzed using Chi-square test and Fisher exact test. RESULTS: There were 97 children who were 15 year and younger. The mean age was 7.4 years, and 65% were boys. The left foot was more dominant side of injury (57%). Seasonal variation was seen with the number of injuries peaking during the summer (43%, p<0.05). Among the vehicles, 78.3% were the large vehicles (bus, truck or van). The where of accident was more frequent at an alley or less than two lanes of traffic. But, the relationships between the place of accident and associated injury or the kind of vehicles and associated injury were not statistically significant. The associated injury were fracture or dislocation (23 cases, 35.9%), injury of tendon (21 cases, 32.8%). There were amputation or disarticulation of foot in 8 cases (8.2%) and post-traumatic deformities such as flatfoot, hindfoot varus or valus deformities by tendon injury in 7 cases (7.2%). CONCLUSION: More than 50% of crushing or degloving injuries of child's foot by traffic accidents happened in boys between 5 to 9 years old. The associated injury was unrelated with size of vehicles or accident place at the time of accident. But, even though foot injury happened in an alley or one lane by small vehicles, child who hurt feet by car need thorough investigation about associated injury. If a surgeon keep in mind and treat child to associated injury necessarily, can minimize complication. Microsurgical reconstruction for soft tissue defect was prior to other methods.
Accidents, Traffic ; Adolescent ; Amputation ; Child* ; Congenital Abnormalities ; Disarticulation ; Dislocations ; Flatfoot ; Foot Injuries ; Foot* ; Humans ; Korea ; Motor Vehicles ; Retrospective Studies ; Seasons ; Tendon Injuries ; Tendons

PURPOSE: To assess the validity of central corneal thickness (CCT) and corrected intraocular pressure (IOP) values obtained by tono-pachymetry in non-surgical and post-photorefractive keratectomy (PRK) eyes. METHODS: For the study, 108 young healthy participants and 108 patients who had PRK were enrolled. Measurements were randomly performed by tono-pachymetry, ultrasonic (US) pachymetry, and Goldmann applanation tonometry (GAT). CCT measurement by tono-pachymetry was compared to that of US pachymetry. The corrected IOP value obtained by tono-pachymetry was compared to that obtained by US pachymetry and GAT. The corrected IOP from US pachymetry and GAT was calculated using the identical compensation formula built into the tono-pachymetry. Bland-Altman plot and paired t-test were conducted to evaluate the between-method agreements. RESULTS: The mean CCT measurement using tono-pachymetry was significantly greater by 7.3 µm in non-surgical eyes (p < 0.001) and 17.8 µm in post-PRK eyes (p < 0.001) compared with US pachymetry. Differences were significant in both Bland-Altman plotand paired t-test. The mean difference of corrected IOP values obtained by tono-pachymetry and calculated from measurements by US pachymetry and GAT was 0.33 ± 0.87 mmHg in non-surgical eyes and 0.57 ± 1.08 mmHg in post-PRK eyes. The differences in the Bland-Altman plot were not significant. CONCLUSIONS: The CCT measurement determined using tono-pachymetrywas significantly thicker than that of US pachymetry. The difference in CCT was greater in post-PRK eyes than in non-surgical eyes. However, the corrected IOP value obtained by tono-pachymetry showed reasonable agreement with that calculated from US pachymetry and GAT measurements.
Compensation and Redress ; Corneal Pachymetry ; Healthy Volunteers ; Humans ; Intraocular Pressure* ; Manometry ; Photorefractive Keratectomy ; Ultrasonics

PURPOSE: Although platelet-rich plasma (PRP) potentiate the wound healing activity of adipose-derived stem cells (ADSCs), its effect cannot be sustained for a prolonged period of time due to short duration of action. This led us to design and produce platelet-rich fibrin (PRF), in an effort to develop a tool which lasts longer, and apply it on wound healing. METHODS: Two symmetrical skin defects were made on the back of seven nude mice. ADSCs were applied to each wound, combined with either PRP or PRF. The wound area was measured over 14 days. By day 16, the wound was harvested and histologic analysis was performed including counting of the blood vessel. RESULTS: The healing rate was more accelerated in PRP group in the first 5 days (p<0.05). However, PRF group surpassed PRP group after 6 days (p<0.05). The average number of blood vessels observed in the PRF group was 6.53 +/- 0.51, compared with 5.68 +/- 0.71 for the PRP group. CONCLUSION: PRF exerts a slow yet pervasive influence over the two-week course of the wound healing process. Thus, PRF is probably more beneficial for promoting the activity of ADSCs for a sustained period of time.
Acceleration ; Animals ; Blood Platelets ; Blood Vessels ; Fibrin ; Mice ; Mice, Nude ; Platelet-Rich Plasma ; Skin ; Stem Cells ; Wound Healing

PURPOSE: To introduce clinical features and molecular characteristics of Korean patients with congenital aniridia. METHODS: Patients with iris hypoplasia were diagnosed clinically as congenital aniridia and were included in the study. Best corrected visual acuity (BCVA) and associated ocular abnormalities (including severity of iris hypoplasia, nystagmus, keratopathy, and foveal hypoplasia), and findings in optical coherence tomography were analyzed. PAX6 analysis,multiplex ligation-dependent probe amplification (MLPA), genomic molecular karyotyping, and candidate gene sequencing were performed to detect genetic abnormalities. RESULTS: 28 patients from 18 families were included in the study. BCVA varied from hand motion to 20/25. No manifest nystagmus was found in 3 patients, but the rest of the patients had pendular horizontal nystagmus. Keratopathy was found in 23 patients, cataracts in 12 patients, and glaucoma in 4 patients. All patients had foveal hypoplasia, including one case with a subtle phenotype. The PAX6 mutation was detected in 13 families out of 18;2 (p.Trp162Leufs*38,p.Gly409Arg) were novel,3 families had the miss ensemutation, and 3 families had alargedeletion in the PAX6 gene. CONCLUSIONS: This study adds 2 novel PAX6 mutations related to congenital aniridia to those previously reported. Congenital aniridia is a serious, sight-threatening ocular malformation, but central vision and the degree of iris hypoplasia were highly variable. The PAX6 mutation was detected in 72% of the patients in this study, and there were no specific clinical features differentiating aniridia with and without PAX6 mutations.
Aniridia* ; Cataract ; Glaucoma ; Hand ; Humans ; Iris ; Karyotyping ; Nystagmus, Pathologic ; Phenotype ; Tomography, Optical Coherence ; Visual Acuity

PURPOSE: This study evaluated the relationship between Dupuytrens disease and smoking and alcohol intake. MATERIALS AND METHODS: Forty eight patients with Dupuytrens disease, who underwent a partial fasiectomy were examined retrospectively through a chart review and a telephone interview. The minimum follow-up period was 12 months. The relationship between Dupuytren's disease and smoking and alcohol intake were analyzed using multivariate logistic regression with significance set at p<0.05. RESULTS: Dupuytren's disease requiring surgery in these patients was associated with heavy alcohol intake (odds ratio 2.91) and alcohol intake per week (odds ratio 1.22). The average smoking level was 24.7 pack-year for cases compared with 16.1 pack-year for controls (p<0.05). The average alcohol intake was 3.0 units per week for the cases compared with 1.2 units per week for controls (p<0.05). Smoking was not an independent risk factor but increased the risk when combined with heavy alcohol intake. CONCLUSION: Heavy alcohol intake is an independent risk factor of Dupuytren's disease in Korean. Smoking is not an independent risk factor but increases the risk when combined with heavy alcohol intake.
Dupuytren Contracture* ; Follow-Up Studies ; Humans ; Interviews as Topic ; Logistic Models ; Retrospective Studies ; Risk Factors ; Smoke* ; Smoking*

OBJECTIVE: To investigate the anatomy of the ulnar nerve according to the degree of elbow flexion and to obtain optimal elbow position for ulnar nerve conduction study. METHODS: Eleven elbows in nine cadavers were dissected. We estimated the 10 cm elbow segment to be the distance between 2 points, 4 cm distal and 6 cm proximal to the center of the cubital tunnel, which was determined to be the halfway point between the medial epicondyle and olecranon with elbow position in extension and 45o, 90o, 135o flexion. Anatomical measurements of the actual length of ulnar nerve, distance between medial epicondyle and ulnar nerve, and distance between medial epicondyle and olecranon were obtained in each position. The actual length of the ulnar nerve was measured between two points of the ulnar nerve closest to the landmarks of the estimated 10 cm with flexible ligature. RESULTS: The actual lengths of ulnar nerve were 10.23 cm, 10.00 cm, 9.44 cm, and 9.08 cm in elbow extension, and 45o, 90o, 135o flexion, respectively. The difference between actual length and estimated lengths were least in 45o elbow flexion (p=0.0001). The distance between medial epicondyle and olecranon increased with increasing elbow flexion (p=0.0001). However, there was no difference in the distance between medial epicondyle and ulnar regardless of the elbow position. As a result, the ulnar nerve seemed to have migrated anteriorly in the cubital tunnel with increasing elbow flexion. CONCLUSION: This study suggest that the optimal angle in ulnar nerve conduction study would be 45o flexion, under the condition that the distance measurement is through the halfway point between the medial epicondyle and olecranon.
Cadaver ; Elbow* ; Ligation ; Olecranon Process ; Ulnar Nerve*

PURPOSE: The objective of this study was to understand and compare the general attitude of medical staff and guardians toward family presence (FP) in the pediatric emergency department (PED). METHODS: A cross-sectional study was conducted in PEDs in Korea. Doctors and nurses who worked in PEDs and guardians who brought children(< or =15 years old) to the PED were asked to complete a structured questionnaire. A 5-point Likert scale was used as the scoring method. The influence of invasiveness of procedures and socio-demographic factors associated with favorable attitude toward FP were assessed. RESULTS: A total of 206 medical staff and 194 guardians were enrolled. The proportion of guardians with a favorable attitude toward FP was higher than that of the medical staff (99.5% vs. 51.4%). Healthcare providers believed that FP could be "helpful to calm down children and/or guardian (s)", and expressed concern that FP could cause "breakage of rapport when procedure fails". Most guardians believed that FP could be "helpful to support the child emotionally". The invasiveness of procedures was negatively related to the proportion of favorable medical staff toward FP, but did not influence that of the guardians. Previous experience with FP (odds ratio=2.04, 95% confidence interval 1.19-4.22) and occupation (OR=0.17, 95% CI 0.07-0.38) of the medical staff showed a negative association with a favorable attitude toward FP. CONCLUSION: We found discrepancies in general attitude toward FP between guardians and medical staff. Previous experience with FP and occupation of medical staff showed an association with a favorable attitude toward FP.
Child ; Cross-Sectional Studies ; Emergencies* ; Emergency Service, Hospital* ; Health Personnel ; Humans ; Korea ; Medical Staff* ; Occupations ; Surveys and Questionnaires ; Research Design

PURPOSE: The objective of this study was to understand and compare the general attitude of medical staff and guardians toward family presence (FP) in the pediatric emergency department (PED). METHODS: A cross-sectional study was conducted in PEDs in Korea. Doctors and nurses who worked in PEDs and guardians who brought children(< or =15 years old) to the PED were asked to complete a structured questionnaire. A 5-point Likert scale was used as the scoring method. The influence of invasiveness of procedures and socio-demographic factors associated with favorable attitude toward FP were assessed. RESULTS: A total of 206 medical staff and 194 guardians were enrolled. The proportion of guardians with a favorable attitude toward FP was higher than that of the medical staff (99.5% vs. 51.4%). Healthcare providers believed that FP could be "helpful to calm down children and/or guardian (s)", and expressed concern that FP could cause "breakage of rapport when procedure fails". Most guardians believed that FP could be "helpful to support the child emotionally". The invasiveness of procedures was negatively related to the proportion of favorable medical staff toward FP, but did not influence that of the guardians. Previous experience with FP (odds ratio=2.04, 95% confidence interval 1.19-4.22) and occupation (OR=0.17, 95% CI 0.07-0.38) of the medical staff showed a negative association with a favorable attitude toward FP. CONCLUSION: We found discrepancies in general attitude toward FP between guardians and medical staff. Previous experience with FP and occupation of medical staff showed an association with a favorable attitude toward FP.
Child ; Cross-Sectional Studies ; Emergencies* ; Emergency Service, Hospital* ; Health Personnel ; Humans ; Korea ; Medical Staff* ; Occupations ; Surveys and Questionnaires ; Research Design