Purpose: To determine whether the cornea remodeling-related genes aldehyde dehydrogenase 3A1 (ALDH3A1), lysyl oxidase (LOX), and secreted protein acidic and rich in cysteine (SPARC) were potential susceptibility candidate genes for keratoconus in Korean patients, we investigated the associations of single nucleotide polymorphisms (SNPs) in these three genes in Korean patients with keratoconus.
Methods: Genomic DNA was extracted from blood samples of unrelated patients with keratoconus and healthy control individuals. For screening of genetic variations, all exons from the entire coding regions of the ALDH3A1, LOX, and SPARC genes were directly sequenced to determine the presence of mutations. Control individuals were selected from the general population without keratoconus.
Results: In this study, we detected nine SNPs in ALDH3A1, four SNPs in LOX, and 18 SNPs in SPARC. rs116992290, IVS3-62c>t, rs116962241, and rs2228100 in ALDH3A1 and rs2956540 and rs1800449 in LOX were significantly different between patient and control groups. In the SPARC gene, the distribution of the *G allele of EX10+225 T>G (p = 0.018; odds ratio, 1.869) was strongly associated with the risk of keratoconus in the Korean population. In haplotype analysis, C-G of rs2956540-rs2288393 in LOX(p = 0.046) and C-C-G and G-G-G of rs60610024-rs2228100-rs57555435 (p = 0.021 and p < 0.001), G-A of IVS3-62 a>g - rs116962241 in ALDH3A1(p = 0.048) predisposed significantly to keratoconus. After cross-validation consistency and permutation tests, two locus model was the best SNP variations interaction pattern.
Conclusions Our results suggested that genetic variations in ALDH3A1, LOX, and SPARC genes were associated with a predisposition for keratoconus in Korean individuals. Moreover, variations in ALDH3A1 and LOX may serve as strong biomarkers for keratoconus.

Purpose: To determine whether the cornea remodeling-related genes aldehyde dehydrogenase 3A1 (ALDH3A1), lysyl oxidase (LOX), and secreted protein acidic and rich in cysteine (SPARC) were potential susceptibility candidate genes for keratoconus in Korean patients, we investigated the associations of single nucleotide polymorphisms (SNPs) in these three genes in Korean patients with keratoconus.
Methods: Genomic DNA was extracted from blood samples of unrelated patients with keratoconus and healthy control individuals. For screening of genetic variations, all exons from the entire coding regions of the ALDH3A1, LOX, and SPARC genes were directly sequenced to determine the presence of mutations. Control individuals were selected from the general population without keratoconus.
Results: In this study, we detected nine SNPs in ALDH3A1, four SNPs in LOX, and 18 SNPs in SPARC. rs116992290, IVS3-62c>t, rs116962241, and rs2228100 in ALDH3A1 and rs2956540 and rs1800449 in LOX were significantly different between patient and control groups. In the SPARC gene, the distribution of the *G allele of EX10+225 T>G (p = 0.018; odds ratio, 1.869) was strongly associated with the risk of keratoconus in the Korean population. In haplotype analysis, C-G of rs2956540-rs2288393 in LOX(p = 0.046) and C-C-G and G-G-G of rs60610024-rs2228100-rs57555435 (p = 0.021 and p < 0.001), G-A of IVS3-62 a>g - rs116962241 in ALDH3A1(p = 0.048) predisposed significantly to keratoconus. After cross-validation consistency and permutation tests, two locus model was the best SNP variations interaction pattern.
Conclusions Our results suggested that genetic variations in ALDH3A1, LOX, and SPARC genes were associated with a predisposition for keratoconus in Korean individuals. Moreover, variations in ALDH3A1 and LOX may serve as strong biomarkers for keratoconus.

A knotted ureteral stent is an extremely rare condition, with fewer than 20 cases reported in the literature; however, it is difficult to treat. We report a case in which a folded Terumo guidewire was successfully used to remove a knotted stent percutaneously without anesthesia. We also review the current literature on predisposing factors and management strategies for knotted ureteral stents.
Anti-Bacterial Agents/therapeutic use ; Humans ; Kidney Calculi/*radiography/*therapy ; Lithotripsy ; Male ; Middle Aged ; Stents/*adverse effects ; Ureter

OBJECTIVES: There was an outbreak of foodborne and waterborne disease among high school students at Okcheon in June, 2018. First attack occurred June 5(th) but seven days later it was notified. The purpose of this investigation was to evaluate the pathogen of outbreak and cause of delayed notification. METHODS: First, we did a questionnaire survey for 61 cases and 122 controls to find what symptoms they had and whether they ate foods or drank water from June 2(nd) to June 12(th). Second, we investigated the environment of cafeteria and drinking water. Third, we examined specimen of cases and environment to identify bacteria or virus. RESULTS: Attack rate of this outbreak was 7.8%. Drinking water was strongly suspected as a source of infection in questionnaire survey but we could not find the exact time of exposure. Norovirus was identified in specimen of cases (2 students), drinking water (at main building and dormitory) and cafeteria (knife, dishtowel, hand of chef) CONCLUSIONS: We decided norovirus as the pathogen of this outbreak based on the clinical features of cases with diarrhea vomiting, abdominal pain and recovery within 2 or 3 days after onset, outbreak due to drinking water and microbiologic examination, And the cause of delayed notification might be the non-existence of the nurse teacher at that time and the lack of understanding of teachers on immediate notification under the outbreak. To prevent the delayed notification, notification system about outbreak of foodborne and waterborne disease in school is needed to be improved.
Abdominal Pain ; Bacteria ; Diarrhea ; Drinking Water ; Hand ; Humans ; Norovirus* ; Vomiting ; Water ; Waterborne Diseases*

BACKGROUND: Weaning from mechanical ventilation is difficult in the intensive care unit (ICU). Many controversial questions remain unanswered concerning the predictors of weaning failure. This study investigates patient characteristics and delayed weaning after lung transplantation. METHODS: This study retrospectively reviewed the medical records of 17 lung transplantation patients from October 2012 to December 2013. Patients able to be weaned from mechanical ventilation within 8 days after surgery were assigned to an early group (n = 9), and the rest of the patients were assigned to the delayed group (n=8). Patients' intraoperative and postoperative characteristics were collected and analyzed, and conventional weaning predictors, including rapid shallow breathing index (RSBI), were also assessed. RESULTS: The results of the early group showed a significantly shorter ICU stay in addition to a shorter hospitalization overall. Notably, the early group had a higher body mass index (BMI) than the delayed group (20.7 vs. 16.9, p = 0.004). In addition, reopening occurred more frequently in the delayed group (1/9 vs. 5/8, p = 0.05). During spontaneous breathing trials, tidal volume (TV) and arterial oxygen tension were significantly higher in the early group compared to the delayed weaning group, but differences in RSBI and respiratory rate (RR) between groups were not statistically significant. CONCLUSIONS: Low BMI might be associated with delayed ventilator weaning in lung transplantation patients. In addition, instead of the traditional weaning predictors of RSBI and RR, TV might be a better predictor for ventilator weaning after lung transplantation.
Body Mass Index* ; Hospitalization ; Humans ; Intensive Care Units ; Lung Transplantation* ; Medical Records ; Oxygen ; Respiration ; Respiration, Artificial ; Respiratory Rate ; Retrospective Studies ; Tidal Volume ; Ventilator Weaning* ; Weaning

We report a rare case of pseudoaneurysm of the inferior epigastric artery and inguinal hematoma extending to the scrotum following the removal of a femoral venous catheter in a 24-year-old male patient undergoing two consecutive neurosurgical procedures.
Aneurysm, False ; Catheters ; Epigastric Arteries ; Femoral Vein ; Hematoma ; Humans ; Male ; Neurosurgical Procedures ; Scrotum ; Young Adult

PURPOSE: To describe the associated conditions and clinical significance of lenticulostriate uasculopathy (LSV) as demonstrated by cranial sonography. MATERIALS AND METHODS: We retrospectively studied 77 LSV cases who between January 1994 and January 1996 had undergone cranial sonography for neonatal asphyxia, seizure, or bulging of anterior fontanel. Cranial sonography was performed with 7 MHz real-time linear and sector transducers using an Acuson computed sonography unit ; examinations were performed in sagittal and coronal planes. Twenty-six LSV patients underwent color Doppler studies, and in 24 of these, color signal and arterial pulse spectral wave were detected. LSV was grouped as one of three types, according to echogenicity : type I (less echogenic than sylvian fissure), type II (similar to sylvian fissure), and type III (more echogenic than sylvian fissures). We retrospectively evaluated associated sonographic abnormalities of the brain, and reviewed medical records for associated conditions and neurologic sequelae. Follow-up sonographic examinations were performed in 23 patients. RESULTS: There were 56 type I cases (73 %), 17 of type II (22 %) and 4 of type III (5 %). Cranial sonographic results were normal in 36 cases (47 %) and abnormal in 41(53 %). Forty-eight cases of nonspecific causes and 29 cases of perinatal and acquired causes accounted for associated conditions. The echogenicity of LSV had not changed in 21 of 23 follow-up cases. Neurologic examinations were performed in 18 cases and in 14 of these (78 %) there was no neurologic sequela. CONCLUSION: LSV in basal ganglia may be associated with nonspecific neonatal conditions, in addition to well known perinatal causes.
Asphyxia ; Basal Ganglia ; Basal Ganglia Cerebrovascular Disease* ; Brain* ; Cranial Fontanelles ; Follow-Up Studies ; Humans ; Medical Records ; Neurologic Examination ; Retrospective Studies ; Seizures ; Transducers ; Ultrasonography*

Glycogen storage disease type V (GSD-V) is the most common disorder of muscle glycogenosis with characteristic clinical and laboratory findings. A 32-yr-old woman complained of exercise intolerance and myoglobulinuria since early adolescence. She reported several episodes of second-wind phenomenon. Physical examination did not show any neurological abnormality, including fixed muscle weakness or atrophy. Serum creatine kinase level was 1,161 IU/L at rest. The result of the non-ischemic forearm exercise test was compatible with GSD-V. Mutation analysis identified the compound heterozygous mutations of the PYGM, p.D510fs and p.F710del, which has not yet been reported in Korea. The present case recognizes that detail clinical and laboratory analysis is the first step in the diagnosis of GSD-V.
Adult ; Base Sequence ; Creatine Kinase/blood ; Exons ; Female ; Frameshift Mutation ; Gene Deletion ; Genotype ; Glycogen Phosphorylase, Muscle Form/genetics ; Glycogen Storage Disease Type V/*diagnosis/genetics/pathology ; Humans ; Pedigree ; Sequence Analysis, DNA

Nitrous oxide is medically used as an anesthetic gas and as an additive in whipped cream production. Few cases of death from nitrous oxide intoxication have been reported in Korea. However, fatalities due to inhalation of pure nitrous oxide in an amount enough to cause death have been recently increasing. We report two cases of death related to nitrous oxide abuse with a review of literature focusing on the fact that nitrous oxide abuse can be considered as a possible cause of death if appliances with nitrous oxide contents were found during the investigation, and the autopsy and toxicological findings cannot be attributed to nitrous oxide intoxication.
Autopsy ; Cause of Death ; Inhalant Abuse ; Inhalation ; Korea ; Nitrous Oxide* ; Toxicology

A cross-sectional study was conducted in an effort to investigate the effect of air pollution on respiratory symptoms. Two groups of female aged more than 20 living in the unpolluted rural area of Taebul(n=159) and urban area of Taegu(n=140)were selected. The ATS-DAD-78 questionnaire was translated into Korean and administered with minor modification. The proportion of smoker was less than 1% in both area. Exposure to smoking and higher educational level were more frequent in Taegu. Age-adjusted prevalence rates of 'chronic cough', 'chronic sputum', 'wheezing', and 'dyspnea' were higher in Taegu than in Taebul. In particular, the prevalence rate of 'chronic sputum' in Taegu was found to be higher, which was statistically significant. Exposure to smoking and education level were not concerned with all respiratory symptom prevalence rates. In conclusion, this study indicates that an urban factor is related to the rates of respiratory symptoms in Korea.
Air Pollution* ; Cross-Sectional Studies* ; Daegu ; Education ; Female ; Fibrinogen ; Humans ; Korea ; Prevalence ; Surveys and Questionnaires* ; Smoke ; Smoking