Joubert syndrome is the very rare autosomal recessive disorder which is including agenesis of cerebellar vermis, respiratory discomfort, ocular motor apraxia, hereditary retinal dystrophy, ataxia and developmental retardation. To diagnose, the findings of electroretinography and visual evoked potential study can be useful and hypoplasia of cerebellar vermis in brain MRI can make certain diagnosis. We found ocular motor apraxia without head thrusts in 4-month little baby can't even control his head and neck, and then his electroretinography and visual evoked potential study was normal and there was agenesis of cerebellar vermis by MRI finding. So he was diagnosed as Joubert syndrome with ocular motor apraxia. Agenesis of cerebellar vermis is considered to be one of the causes of oculomotor apraxia, and the clinical presentation varies with the age and motor development of the child. So, we describe this case with a brief review of the literatures related to this disease.
Apraxias* ; Ataxia ; Brain ; Child ; Diagnosis ; Electroretinography ; Evoked Potentials, Visual ; Head* ; Humans ; Magnetic Resonance Imaging ; Neck ; Retinal Dystrophies

No abstract available.
Exotropia*

Here, we report early treatment outcomes of gene therapy for early onset retinitis pigmentosa (RP) (Leber congenital amaurosis) associated with biallelic RPE65 mutation in a 30-year-old female patient. Initially, her visual acuity (VA) was 20/200, and her visual field (VF) was severely constricted to the center in the left eye. Her electroretinography showed nearly extinct signals. Full-field stimulus threshold test (FST) revealed diminished dark-adapted light sensitivity. Voretigene neparvovec-rzyl (VN) is the first in vivo viral gene therapy agent to be approved. At 3 months after subretinal injection of VN in the left eye, VA, VF, and FST showed sustained improvement. She did not exhibit any signs of adverse effects from the treatment. Gene therapy for RP proved to be an effective and safe treatment in an advanced case of RPE65-associatied early onset RP.

PURPOSE: To investigate the correlation between the matrix metalloproteinase-9 (MMP-9) concentration, and subjective symptoms and objective signs in dry eye patients. METHODS: We retrospectively reviewed the medical records of 134 eyes of 67 patients who were diagnosed with dry eye disease. The results of tear MMP-9, which were conducted at a care testing facility, were defined as negative (N), equivocal (E), weak positive (W), positive (P) or strong positive (S). Using three methods with different classification ranges, MMP-9 results were classified into a negative group or positive group. The objective signs of dry eye disease, including tear break-up time (TBUT), tear volume measured by Schirmer's test, degree of corneal erosion estimated by the Oxford stain score (OSS), and ocular surface disease index (OSDI) as the subjective symptom, were recorded. The differences of indices were compared between the negative and positive groups. RESULTS: There was no significant difference of the TBUT, Schirmer's test, or OSS between the MMP-9 negative and positive groups. Also, the percentage of females was significantly higher in the negative group compared with the positive group regardless of the classification methods (all, p < 0.05). When the MMP-9N alone was classified as a negative group, the OSDI score was significantly higher in the positive group when compared to that of the negative group (p = 0.009). CONCLUSIONS The measurement of MMP-9 in patients with dry eye disease may be helpful in predicting subjective symptoms of dry eye disease.

Purpose: This study examined the effects of nutritional education related to sugar in elementary school children on nutritional knowledge, attitude, and dietary behavior. Methods: A questionnaire survey on the knowledge, attitudes, and intake related to sugar was conducted on 572 students in grades 4–5, who were attending five elementary schools in Seoul and Gyeonggi-do. Results: Among the survey subjects, 270 (49.8%) were cognitive in education, and 302 (50.2%) were non-cognitive. The sugar-related knowledge score was 3.67 points in the cognitive education group, which was significantly higher than the 3.55 points in the non-cognitive group. The rate of checking the sugar content in the nutrition label was 31.2% in the cognitive education group, which was significantly higher than in the non-cognitive group, 15.4%. The cognitive education group had a higher intake frequency of unsweetened candy, jelly, and raw fruits, and higher sugar intake of unsweetened bread, white milk, and raw fruits than the non-cognitive group. In the case of the cognitive education group, the total knowledge score showed a positive correlation with the food behavior scores, and a negative correlation with the frequency of purchasing snacks after school, and the average sugar intake per day. In the cognitive education group only, the education of nutrition teachers was analyzed as a factor to reduce the total sugar intake. The cognitive group of sugar education tried to eat foods with a lower sugar content than the non-cognitive group, and nutrition education was an important factor affecting the sugar intake. Conclusion To reduce the sugar intake of elementary school students, it will be necessary to practice oriented-nutrition education by nutrition teachers continuously. In addition, it is important to develop and disseminate various types of nutrition education materials related to sugar that can be utilized easily by nutrition teachers.

PURPOSE: To compare the characteristics of patients with surgically overcorrected intermittent exotropia treated with alternate patching. METHODS: The medical records of 51 patients who underwent bilateral lateral rectus muscle recession for intermittent exotropia and required alternate patching to correct postoperative overcorrection were retrospectively reviewed. Patients with postoperative esodeviation ≥18 prism diopters (PD) were started on alternate patching on postoperative day 1, whereas those with postoperative esodeviation of 10 to 17 PD were started after 2 weeks. Postoperative esodeviation <10 PD was considered as slight intentional overcorrection after exotropia surgery. Patients not responsive to alternate patching treatment were defined as those with postoperative esodeviation ≥10 PD after 3 months of treatment. Sex, family history, age, refractive error, amblyopia, stereopsis, suppression, type of exotropia, surgical method, preoperative and postoperative angle of deviation, and start time of alternate patching were compared. RESULTS: Among 51 patients, 29 patients responded to alternate patching and 22 patients did not respond. Female sex (p = 0.04), larger preoperative exodeviation at distance (p = 0.04), late onset of postoperative maximal esodeviation (p < 0.01), larger postoperative maximal esodeviation at near (p = 0.02), and late initiation of alternate patching (p = 0.01) were associated with patients in the non-responsive group. Although postoperative angle of deviation was similar for 2 weeks, the angle of postoperative esodeviation was significantly larger in the non-responsive group than in the responsive group, beginning at 1 month postoperatively. CONCLUSIONS: Female sex, large preoperative exodeviation, late initiation of alternate patching, and large esodeviation 1-month postoperative predisposed patients to be resistant to alternate patching for postoperative overcorrection.
Amblyopia ; Depth Perception ; Esotropia ; Exotropia* ; Female ; Humans ; Medical Records ; Methods ; Refractive Errors ; Retrospective Studies

PURPOSE: In the present study, the volume of hard exudates (HEs) was quantitatively measured using optical coherence tomography (OCT) and the agreement and correlation with area of HEs in fundus photography were analyzed. METHODS: The medical records of patients with diabetic macular edema who underwent focal laser treatment and were followed up more than 3 months were retrospectively evaluated. An automated customized program designed for measuring HE volume was used. The HEs in each OCT B-scan binary image were measured using 512 × 128 pixels, 6 mm × 6 mm OCT cube scans. The volume was measured by summing the segmented HEs in each 128 B-scan image. The area was measured in 6 mm x 6 mm fundus photography. The volume and area were measured before and 3 months after the treatment. The agreement of increase and decrease in HEs, and the correlation of volume and area of HEs were analyzed. RESULTS: A total of 35 patients (39 eyes) were included in the study. The volume was significantly reduced from 0.07978 to 0.02565 mm³ at 3 months (p < 0.001). The area was also significantly reduced from 15.35 to 8.60 mm² at 3 months (p < 0.001). The volume was decreased in 34 eyes and increased in 5 eyes. The area was decreased in 37 eyes and increased in 2 eyes. A significant correlation between volume and area was found (p < 0.001) as well as agreement between increase and decrease in volume and area. CONCLUSIONS: In the 3-dimensional quantitative volumetric analysis, the volume and area of HEs were correlated and the direction of increase and decrease was concordant. Considering the distribution of HEs in multiple layers of the retina, volumetric analysis could be considered a substitute for the analysis of HE area.
Exudates and Transudates ; Humans ; Macular Edema ; Medical Records ; Methods ; Photography ; Retina ; Retrospective Studies ; Tomography, Optical Coherence

It was well received that well grounded behavioral theories were important in the development of effective nutrition education programs, but there are only a few programs available for Korean women. The objective of this study was to develop nutrition education programs for childbearing-aged women in Korea. Based on the findings of the needs assessment for the program and theoretical backgrounds, we developed behaviorally oriented tailored nutrition education program including motivation (MT), modifying (MD) and maintenance (MA) stages. The key concepts of the stages were motivation promotion for MT, increasing behavioral capabilities for MD, and strengthening self-management and building favorable environmental condition for MA. The education program was intended to be need in individual nutrition counseling, but it could be well used for group education by developing materials using the relevant contents. The primary users of the program were nutrition educators, however it could be also used by clients as needed. The introductory chapter provided dietary assessment tools and nutrition education tips. MT chapter included subjects such as nutritional status screening, costs of inappropriate nutrition and weight management, benefits of eating right, and activities for motivation promotion. MD stage chapter dealt with topics of healthy weight, knowledges and skills for better eating habits and physical activity status, and activities related to setting tailored behavioral objectives. MA stage focused on facilitating self management skills and building helping relationships. Each stage underlined activities using various educational tools in order to promote active participation of the client (s). For better use of this program, it was recommended to conduct program validation study.
Counseling ; Eating ; Education* ; Female ; Humans ; Korea* ; Mass Screening ; Motivation ; Motor Activity ; Needs Assessment ; Nutritional Status ; Self Care

BACKGROUND/OBJECTIVES: Excessive sugar consumption may increase the risk for development of several diseases. Although average dietary sugar intake of Koreans is within the recommended level, an increasing trend has been found in all age groups. This study aimed to evaluate the population attributable fractions (PAF) to dietary sugar for disease and death in Korea, and to estimate the socioeconomic effects of a reduction in dietary sugar. MATERIALS/METHODS: The prevalence of sugar-sweetened beverages (SSB) overconsumption (≥ 20 g of sugar from beverages) was analyzed using the Korean National Health and Nutrition Examination Survey 2015. Disease-specific relative risks of excessive SSB consumption were obtained through reviewing previous studies. Using the prevalence of SSB overconsumption and each relative risk, PAFs for morbidity and mortality were calculated. Socioeconomic costs of diseases and death attributable to SSB overconsumption were estimated by using representative data on national medical expenditures, health insurance statistics, employment information, and previous reports. RESULTS: Disease-specific PAF to SSB consumption ranged from 3.11% for stroke to 9.05% for obesity and dental caries, respectively. Costs from disease caused by SSB overconsumption was estimated at 594 billion won in 2015. About 39 billion won was estimated to be from SSB consumption-related deaths, and a total of 633 billion won was predicted to have been saved through preventing SSB overconsumption. CONCLUSIONS: Sugars overconsumption causes considerable public burdens, although the cost estimates do not include any informal expenditure. Information on these socioeconomic effects helps both health professionals and policy makers to create and to implement programs for reducing sugar consumption.
Administrative Personnel ; Beverages ; Carbohydrates ; Dental Caries ; Dietary Sucrose ; Employment ; Health Expenditures ; Health Occupations ; Humans ; Insurance ; Korea ; Mortality ; Nutrition Surveys ; Obesity ; Prevalence ; Public Health ; Stroke

Although atmospheric carbon dioxide (CO₂) has no apparent direct effect on human health, it does have direct effects on plants. The present study evaluated the influence of increased CO₂ levels on the concentration of allergens from common ragweed pollen by setting up a chamber study to model future air conditions and a field study to evaluate current air conditions. For the chamber study, we established 20 ragweed plants in an open-top chamber under different CO₂ levels (380–400, 500–520, 600–620, and 1,000–1,100 parts per million [ppm]). For the field study, we established ragweed plants in rural (Pocheon, Gyeonggi-do; mean CO₂ 320±54.8 ppm) and urban (Gangnam, Seoul; mean CO₂ 440±78.5 ppm) locations. Seeds of the common ragweed (Ambrosia artemisiifolia) were obtained from Daejin University. The Amb a 1 protein content of pollen extracts was quantified using a double sandwich enzyme-linked immunosorbent assay. In our chamber study, the median concentration of Amb a 1 in pollen increased with increasing in CO₂ concentration (1.88 ng/µg in 380–400 ppm CO₂; 3.14 ng/µg in 500–520 ppm CO₂; 4.44 ng/µg in 600–620 ppm CO₂; and 5.36 ng/µg in 1,000–1,100 ppm CO₂). In our field study, we found no significantly different concentration of Amb a 1 between the pollen extracts at the Pocheon (mean±standard deviation, 1.63±0.3 ng/µg pollen in 320±54.8 ppm CO₂) and the Gangnam (2.04±0.7 ng/µg pollen in CO₂ in 440±78.5 ppm CO₂) locations, although the concentration of Amb a 1 was increased in the Gangnam than in the Pocheon locations. Our results suggest that future increases in CO₂ levels to more than 600 ppm will significantly elevate the Amb a 1 content in common ragweeds, although the current different CO₂ levels do not cause differences in the Amb a 1 content of ragweed pollen.
Allergens ; Ambrosia* ; Carbon Dioxide ; Enzyme-Linked Immunosorbent Assay ; Gyeonggi-do ; Humans ; Pollen ; Rhinitis, Allergic, Seasonal ; Seoul