A 66 years old male presented with severe right-sided otalgia and throat pain, which persisted more than a year. He also complained of bilateral tinnitus. Tinnitus was continuous and high-pitched. Severe pain usually followed swallowing food. Pressing his right tonsil aggravated such symptoms. Pure tone audiogram showed both high frequencies hearing loss. Neck CT image revealed a small tonsillolith in his right tonsil. Gabapentin and non-steroidal anti-inflammatory drugs reduced the intensity of pain, but could not eradicate the pain. Finally, we performed radiofrequency tonsil ablation to eliminate right side tonsillolith. After ablation, pain immediately subsided and his tinnitus also disappeared. Tiny impacted tonsillolith may induce glossopharyngeal neuralgia and somatic tinnitus.

Background and Objectives: Measurement of sleep parameters in both supine and non-supine positions is important for the diagnosis of positional obstructive sleep apnea (OSA). However, the influence of right and left lateral decubitus positions (RLDP and LLDP, respectively) on sleep parameters is relatively unknown and has not been well investigated. This study was performed to verify the associations between sleep parameters and lateral decubitus sleep position. Methods: A retrospective study was performed on 38 patients who were diagnosed with OSA and underwent surgical interventions from January 2014 to December 2016. Preoperative sleep parameters were evaluated with WatchPAT, and patients who slept sufficiently in both RLDP and LLDP to accurately analyze sleep parameters were enrolled in the study. Basic clinical data including body mass index (BMI) and nasal endoscopic findings of patients were assessed. Results: The difference in peripheral arterial tonometry apnea-hypopnea index (pAHI) and PAT respiratory disturbance index (pRDI) between RLDP and LLDP showed no association with the side of deviated nasal septum. Patients with higher BMI showed higher pRDI in LLDP than RLDP (p=0.038). The difference in sleep position percentage between RLDP and LLDP was negatively correlated with the difference in pRDI (p=0.023). Conclusion Higher BMI patients with OSA might benefit more from sleeping in RLDP than LLDP. Patients slept longer in the lateral decubitus position that produced lower pRDI. Not only supine and non-supine positions, but also RLDP and LLDP need to be evaluated in patients with OSA.

A case is presented to show tracheal cartilaginous sleeve in Antley-Bixler syndrome, which is the second case to be reported so far. In this patient, W290C mutation in FGFR2, the mutation previously known to cause Pfeiffer syndrome, was newly identified. After receiving tracheostomy, the patient recovered from repetitive respiratory distress, and retrieved normal respiratory function. Thorough airway examination and active surgical management such as tracheostomy is necessary in children with syndromic craniosynostosis, including Antley-Bixler syndrome.

Objectives: . We, herein, report two novel USH2A variants from two unrelated Korean families and their clinical phenotypes, with attention to severe or more than severe sensorineural hearing loss (SNHL). Methods: . Two postlingually deafened subjects (SB237-461, M/46 and SB354-692, F/34) with more than severe SNHL and also with suspicion of Usher syndrome type II (USH2) were enrolled. A comprehensive audiological and ophthalmological assessments were evaluated. We conducted the whole exome sequencing and subsequent pathogenicity prediction analysis. Results: . We identified the following variants of USH2A from the two probands manifesting more than severe SNHL and retinitis pigmentosa (RP): compound heterozygosity for a nonsense (c.8176C>T: p.R2723X) and a missense variant (c.1823G>A: p.C608Y) in SB237, and compound heterozygosity for two frameshift variants (c.14835delT: p.S4945fs & c.13112_13115delAAAT: p.G4371fs) in SB354. Based on the American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines, two novel variants, c.1823G>A: p.C608Y and c.14835delT: p.Ser4945fs, can be classified as “uncertain significance” and “pathogenic,” respectively. The audiogram exhibited more than severe SNHL and a down-sloping configuration, necessitating cochlear implantation. The ophthalmic examinations revealed typical features of RP. Interestingly, one proband (SB 354-692) carrying two truncating compound heterozygous variants exhibited more severe hearing loss than the other proband (SB 237-461), carrying one truncation with one missense variant. Conclusion . Our results provide insight on the expansion of audiological spectrum encompassing more than severe SNHL in Korean subjects harboring USH2A variants, suggesting that USH2A should also be included in the candidate gene of cochlear implantation. A specific combination of USH2A variants causing truncating proteins in both alleles could demonstrate more severe audiological phenotype than that of USH2A variants carrying one truncating mutation and one missense mutation, suggesting a possible genotype-phenotype correlation. The understanding of audiological complexity associated with USH2A will be helpful for genetic counseling and treatment starategy.

A “pathogen resource” contains information about pathogens (e.g., bacteria, fungi, viruses, and protozoa) and microbial derivatives (e.g., DNA, RNA, plasmid, clone, and cDNA). Pathogen resources are important for their potential use in healthcare research because they contain clinical and epidemiological information that is different from microbial resources. In October 2014, the “Nagoya Protocol” on access and benefit-sharing with the Convention on Biological Diversity was enacted to restrict the movement of transboundary pathogens and protect the natural pathogen resources of each country. On July 2017, the Korean Medical Fungal Pathogen Resource Bank (KMFRB) was established to secure, discover, and develop biological resources focused on medical fungi. KMFRB has since been operating under the National Culture Collection for Pathogens of the National Institute of Health based on the Act No. 13992. This report aims to provide general information regarding KMFRB and suggest efficient ways to utilize human fungal pathogen resources for clinical research.

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.

An 82-year-old man with diabetes was admitted to the emergency department with a third-degree burn on his left leg. The deep swab specimen from his left leg was cultured on Sabouraud dextrose agar without cycloheximide and incubated at 25 °C for 5 days. On the basis of morphological characteristics and multigene phylogenetic analyses of the internal transcribed spacer region of ribosomal DNA and partial fragments of beta-tubulin and translation elongation factor 1-alpha, the causal agent of fungal skin infection was identified as Bisifusarium delphinoides, which was newly introduced by accommodating a Fusarium dimerum species complex. Thus, we describe here the first case of skin infection caused by B. delphinoides on a burn patient with diabetes mellitus based on morphological observation and molecular analysis.

The Second Meeting of the National Control Laboratories for Vaccines and Biologicals in the Western Pacific, was jointly organized by the National Institute of Food and Drug Safety Evaluation of the Ministry of Food and Drug Safety in the Republic of Korea, and by the World Health Organization Regional Office for the Western Pacific. In the National Lot Release Systems session countries including Canada, China, Japan, Malaysia, Vietnam, and the Republic of Korea, all shared information on their current Lot Release Systems, including current practices and developments in risk-based official lot release of vaccines. In the session on Quality Control of Blood Products, experts from the National Institute for Biological Standards and Control shared quality control and research results for; blood coagulation factor VIII products, and the measurement of procoagulant activity in immunoglobulin products. Representatives from Japan proposed a regional collaborative study to test aggregated immunoglobulin free from complement activity. A cell-based Japanese encephalitis vaccine potency assay was proposed by representatives from Korea and they also called for voluntary participation of other National Control Laboratories in a collaborative study, on the first Korean Gloydius anti-venom standard. Participants agreed in general to continue communicating, and coordinate presentation of the study results.
Blood Coagulation Factors ; Canada ; China ; Complement System Proteins ; Encephalitis, Japanese ; Factor VIII ; Immunoglobulins ; Japan ; Korea ; Malaysia ; Quality Control ; Republic of Korea ; Vaccine Potency ; Vaccines* ; Vietnam ; World Health Organization

Norovirus is a leading cause of epidemic and sporadic acute gastroenteritis worldwide. Rapid and accurate detection of norovirus is essential for the prevention and control of norovirus outbreaks. The purpose of this study was to propose and develop a process for establishing appropriate standardized guidelines for the approval and evaluation of in vitro diagnostic medical devices (IVDD) for norovirus detection in Korea based on the related laws, regulations, and guidelines of USA, Europe, and Korea. We expect that this study could be used for diagnostic test standardization and the approval and evaluation of domestic norovirus diagnostic devices. We also expect the results will contribute to industrial expansion and public health promotion.
Diagnostic Tests, Routine* ; Disease Outbreaks ; Europe ; Gastroenteritis ; Jurisprudence ; Korea* ; Norovirus* ; Public Health ; Reagent Kits, Diagnostic ; Social Control, Formal

Traditionally, schizophrenia is considered to be a result of dopaminergic hyperactivity while dopaminergic deficiency underlies Parkinson’s disease (PD). This opposing pathophysiology makes comorbid schizophrenia and PD seemingly impossible; however, they do coexist rarely in clinical practice. We present four patients with paranoid schizophrenia diagnosed in their youth who developed parkinsonian symptoms on a stable regimen of quetiapine or clozapine after several years. The diagnosis of comorbid schizophrenia and PD was made mainly according to clinical observation. In addition, dopamine transporter (DAT) imaging with 18F-FP-CIT PET was done in two patients, which showed normal DAT density. It is believed that dopaminergic dysfunction in distinct dopaminergic pathways may explain the coexistence of these two disorders