Neuropathic arthropathy (Charcot arthropathy) is a progressive joint disease often associated with conditions such as diabetes, leading to severe joint deformity and pain. However, its occurrence in patients with rheumatoid arthritis (RA) is rare and not well documented.This case report describes a 48-year-old woman with a long history of RA who developed a severe deformity of her right ankle, identified as neuropathic arthropathy extending to the subtalar joint (Brodsky classification type 3A). After excluding other potential causes, the condition was determined to be secondary to RA-associated peripheral neuropathy. Surgery, including allograft and autograft fixation, was performed to correct the deformity. Post-operative complications, such as wound infection, were treated with negative pressure wound therapy and skin grafting. At the 18-month follow-up, the patient was able to walk without pain, demonstrating successful joint fusion.

Purpose: To compare the results of lacrimal syringing performed in clinical practice and under general anesthesia, and the clinical efficacy of lacrimal syringing under general anesthesia before endoscopic dacryocystorhinostomy and dacryoscintigraphy. Methods: The study included 148 eyes of 82 patients who underwent endoscopic dacryocystorhinostomy and silicone tube intubation from August 2018 to April 2019. The patients were examined with lacrimal syringing in clinical practice and re‐examined under general anesthesia. Based on the change in lacrimal syringing, the patients were assigned to inconsistent and consistent groups. The inconsistent group was subclassified into complete (‘regurgitation’ of lacrimal syringing changes to a ‘passage’ pattern) and partial improvement groups (the degree of regurgitation improves under general anesthesia). Results: Twenty (13.5%) eyes showed inconsistent results of lacrimal syringing performed in clinical practice and under general anesthesia; all showed improved passage under general anesthesia. The surgical results did not differ significantly (p = 0.336) between the consistent and inconsistent groups, but did between the complete and partial improvement groups (p < 0.01). Conclusions Lacrimal syringing under general anesthesia may enable an accurate preoperative diagnosis of the degree of obstruction. The combined results of dacryoscintigraphy and lacrimal syringing performed in clinical practice and under general anesthesia allow surgeons to evaluate the lacrimal drainage anatomy precisely and may be useful for predicting the functional success of endoscopic dacryocystorhinostomy.

The meta-analysis has become a widely used tool for many applications in bioinformatics, including genome-wide association studies. A commonly used approach for meta-analysis is the fixed effects model approach, for which there are two popular methods: the inverse variance-weighted average method and weighted sum of z-scores method. Although previous studies have shown that the two methods perform similarly, their characteristics and their relationship have not been thoroughly investigated. In this paper, we investigate the optimal characteristics of the two methods and show the connection between the two methods. We demonstrate that the each method is optimized for a unique goal, which gives us insight into the optimal weights for the weighted sum of z-scores method. We examine the connection between the two methods both analytically and empirically and show that their resulting statistics become equivalent under certain assumptions. Finally, we apply both methods to the Wellcome Trust Case Control Consortium data and demonstrate that the two methods can give distinct results in certain study designs.
Case-Control Studies ; Computational Biology ; Genome-Wide Association Study ; Methods* ; Weights and Measures

PURPOSE: To report two cases of Williams syndrome with ocular manifestations CASE SUMMARY: A 5-year-old boy who was diagnosed with Williams syndrome visited our hospital for ophthalmic examination. Best corrected visual acuity (BCVA) in both eyes was 0.6. He had myopic astigmatism and 8 prism diopters of esotropia. Oval-shaped pupil with a stellate pattern of the iris and increased retinal vascular tortuosity were seen in both eyes. Another case of an 8-year-old boy with Williams syndrome also had myopia in both eyes. BCVA was 0.7 in the right eye and 0.4 in the left eye. A stellate pattern of the iris and increased retinal vascular tortuosity were also seen in both eyes. CONCLUSIONS: Williams syndrome, deletion of 7q11.23, has ocular anomalies including a stellate pattern of the iris, refractive errors, amblyopia, and strabismus. Therefore, careful ophthalmic examination should be considered when children are diagnosed with Williams syndrome.
Amblyopia ; Astigmatism ; Child ; Child, Preschool ; Esotropia ; Humans ; Iris ; Male ; Myopia ; Pupil ; Refractive Errors ; Retinaldehyde ; Strabismus ; Visual Acuity ; Williams Syndrome*

OBJECTIVE: To evaluate the level of health-related quality of life (HRQoL), life satisfaction, and their present awareness of cardiac rehabilitation (CR) program in people with cardiovascular diseases. METHODS: A questionnaire survey was completed by 53 patients (mean age, 65.7±11.6 years; 33 men and 20 women) with unstable angina, myocardial infarction, or heart failure. The questionnaire included the Medical Outcome Study 36-item Short-Form Health Survey (MOS SF-36), life domain satisfaction measure (LDSM), and the awareness and degree of using CR program. RESULTS: The average scores of physical component summary (PCS) and mental component summary (MCS) were 47.7±18.5 and 56.5±19.5, respectively. There were significant differences in physical role (F=4.2, p=0.02), vitality (F=10.7, p<0.001), mental health (F=15.9, p<0.001), PCS (F=3.6, p=0.034), and MCS (F=11.9, p<0.001) between disease types. The average LDSM score was 4.7±1.5. Age and disease duration were negatively correlated with multiple HRQoL areas (p<0.05). Monthly income, ejection fraction, and LDSM were positively correlated with several MOS SF-36 factors (p<0.05). However, the number of modifiable risk factors had no significant correlation with medication. Thirty-seven subjects (69.8%) answered that they had not previously heard about CR program. Seventeen patients (32.1%) reported that they were actively participating in CR program. Most people said that a reasonable cost of CR was less than 100,000 Korean won per month. CONCLUSION: CR should focus on improving the physical components of quality of life. In addition, physicians should actively promote CR to cardiovascular disease patients to expand the reach of CR program.
Angina, Unstable ; Cardiovascular Diseases* ; Coronary Disease ; Health Surveys ; Heart Failure ; Humans ; Male ; Mental Health ; Myocardial Infarction ; Outcome Assessment (Health Care) ; Quality of Life* ; Rehabilitation* ; Risk Factors

Fulminant type 1 diabetes (T1DM) is a distinct subtype of T1DM that is characterized by rapid onset hyperglycemia, ketoacidosis, absolute insulin deficiency, and near normal levels of glycated hemoglobin at initial presentation. Although it has been reported that class II human leukocyte antigen (HLA) genotype is associated with fulminant T1DM, the genetic predisposition is not fully understood. In this study we investigated the HLA genotype and haplotype in 11 Korean cases of fulminant T1DM using imputation of whole exome sequencing data and compared its frequencies with 413 participants of the Korean Reference Panel. The HLA-DRB1*04:05-HLA-DQB1*04:01 haplotype was significantly associated with increased risk of fulminant T1DM in Fisher's exact test (odds ratio [OR], 4.11; 95% confidence interval [CI], 1.56 to 10.86; p = 0.009). A histidine residue at HLA-DRbeta1 position 13 was marginally associated with increased risk of fulminant T1DM (OR, 2.45; 95% CI ,1.01 to 5.94; p = 0.054). Although we had limited statistical power, we provide evidence that HLA haplotype and amino acid change can be a genetic risk factor of fulminant T1DM in Koreans. Further large-scale research is required to confirm these findings.
Autoimmunity ; Exome ; Genetic Predisposition to Disease ; Genotype* ; Haplotypes ; Hemoglobin A, Glycosylated ; Histidine ; HLA Antigens ; Humans ; Hyperglycemia ; Insulin ; Ketosis ; Leukocytes ; Risk Factors

Objectives: . Our research group has previously demonstrated that hearing loss might be a risk factor for synaptic loss within the hippocampus and impairment of cognition using an animal model of Alzheimer disease. In this study, after inducing hearing loss in a rat model of Alzheimer disease, the associations of various microRNAs (miRNAs) with cognitive impairment were investigated. Methods: . Rats were divided randomly into two experimental groups: the control group, which underwent sham surgery and subthreshold amyloid-β infusion and the deaf group, which underwent bilateral cochlear ablation and subthreshold amyloid-β infusion. All rats completed several cognitive function assessments 11 weeks after surgery, including the object-in-place task (OPT), the novel object recognition task (NOR), the object location task (OLT), and the Y-maze test. After the rats completed these tests, hippocampus tissue samples were assessed using miRNA microarrays. Candidate miRNAs were selected based on the results and then validated with quantitative reverse transcriptionpolymerase chain reaction (qRT-PCR) analyses. Results: . The deaf group showed considerably lower scores on the OPT, OLT, and Y-maze test than the control group. The microarray analysis revealed that miR-29b-3p, -30e-5p, -153-3p, -376a-3p, -598-3p, -652-5p, and -873-3p were candidate miRNAs, and qRT-PCR showed significantly higher levels of miR-376a-3p and miR-598-3p in the deaf group. Conclusion . These results indicate that miR-376a-3p and miR-598-3p were related to cognitive impairment after hearing loss.

Invasive fungal infections caused by Cyberlindnera fabianii have recently increased. However, biochemical kits such as API 20 C AUX and Vitek-2C have misidentified this species as other Candida spp. such as C. pelliculosa or C. utilis due to no information of Cy. fabianii in yeast database. During our 2016–2017 surveys, eleven isolates of Cy. fabianii were obtained in International St. Mary's Hospital in Korea. Here, we describe its morphological and molecular characteristics and tested its antifungal susceptibility against nine antifungal agents. The sequences of the ITS region and the D1/D2 region of LSU revealed 100% identity with the sequences of Cy. fabianii. In comparison with the results from MALDI-TOF mass spectrometry, we found that Cy. fabianii can be distinguished from other species. In antifungal susceptibility test, voriconazole and echinocandins exhibited good antifungal activities against the majority of Cy. fabianii isolates despite the absence of standard criteria.