The combination of central nervous system abnormalities and renal impairment is a notable characteristic of GallowayMowat syndrome (GAMOS), a disease which often accompanies microcephaly, developmental delay, and nephrotic syndrome. Many subtypes exist having various phenotypes and genotypes, and many genetic causes are still being identified.An 18-month-old boy first visited our clinic for seizure, delayed development, and microcephaly. During follow-up visits he developed proteinuria and nephrotic syndrome at the age of 6. Nephrotic syndrome became refractory to treatment. These phenotypes were suggestive of GAMOS. Next generation sequencing was performed for genetic analysis and revealed novel compound heterozygous variants in the WDR4 gene: c.494G>A (p.Arg165Gln) and c.540C>G (p.Ile180Met). This is the first case in Korea of GAMOS involving the WDR4 gene.

Objectives: . Past several studies have proven that caffeine facilitates attentional enhancement by acting as an adenosine antagonist once it is absorbed by the body, resulting in improved psycho-behavioral function. Modern clinical olfactory function tests are usually assessed by psychophysical tests but due to a paucity of data, the influence of enhanced attention by caffeine on olfactory function still remains unclear. The objective of this study was to compare results of cognitive function (attention) and olfactory function before and after caffeine administration in order to analyze effects of caffeine on olfactory function in normosmic subjects. Methods: . This study enrolled 49 participants of Konkuk University Hospital with a mean age of 27.7 years who had patent olfactory clefts and no olfactory dysfunction from May 2015 to February 2016. Subjects were restrained from caffeine 10 hours before the test. On day 1, participant’s subjective olfactory function was evaluated before and after uptake of either caffeinated or decaffeinated coffee using visual analog scale (VAS) score, minimum cross-sectional area (MCA) measured by acoustic rhinometry, and the Korean version of Sniffin’ Stick II (KVSS II). Evaluation of participant’s attentional degree was measured by d2 test. On day 2, the same procedure was carried out with counterpart substance. The type of coffee initially administrated was randomly selected. Results: . After administration, caffeinated coffee resulted in significant attentional enhancement than decaffeinated coffee. Results of d2 test showed statistically significant differences in the parameters of total number of errors and omission errors. In both the caffeinated and decaffeinated groups, the patients showed slight increase in VAS score and nasal cavity area; however, the difference was not statistically significant. Also, caffeinated coffee intake compared to decaffeinated coffee intake showed no significant relevance to olfactory function. Conclusion . Caffeine may significantly improve attentional congnitive function, while not have acute effects on olfactory function.

Objectives: . Postinfectious olfactory dysfunction (PIOD) is the most common etiology of olfactory dysfunction, and olfactory training (OT) is an accepted treatment modality for PIOD. Some studies have investigated OT in Korean patients, but they involved odorants unfamiliar to Koreans or had no control group. The aim of this study was to verify the efficacy of OT in PIOD patients, using odorants familiar to Koreans and including a control group. Methods: . We enrolled a total of 104 Korean patients with PIOD over the 3-year study period. All participants were assessed using endoscopy and an olfactory function test at the baseline assessment and 3 months after OT. The olfactory function test was performed using the Korean version of Sniffin’ stick (KVSS) II. Nasal and psychological function was evaluated using a visual analog scale and the Mini-Mental State Examination. OT was performed over a period of 3 months, using five odorants (rose, lemon, cinnamon, orange, and peach). Results: . OT improved olfactory function in approximately 40% of subjects over a period of 12 weeks compared to non-OT subjects. A comparison of changes between the initial and follow-up assessments demonstrated that the OT group had significantly better olfactory results for the total KVSS II, threshold, and identification scores than the non-OT group. The degree of olfactory improvement after OT was affected by the initial score. Conclusion . The effects of OT in patients with PIOD were demonstrated in this study. A meaningful contribution of this study is that Korean patients were tested using odors familiar to them in comparison with a control group.

Purpose: The radiographic assessment of lung edema (RALE) score enables objective quantification of lung edema and is a valuable prognostic marker of adult acute respiratory distress syndrome (ARDS). We aimed to evaluate the validity of RALE score in children with ARDS. Materials and Methods: The RALE score was measured for its reliability and correlation to other ARDS severity indices. ARDSspecific mortality was defined as death from severe pulmonary dysfunction or the need for extracorporeal membrane oxygenation therapy. The C-index of the RALE score and other ARDS severity indices were compared via survival analyses. Results: Among 296 children with ARDS, 88 did not survive, and there were 70 ARDS-specific non-survivors. The RALE score showed good reliability with an intraclass correlation coefficient of 0.809 [95% confidence interval (CI), 0.760–0.848]. In univariable analysis, the RALE score had a hazard ratio (HR) of 1.19 (95% CI, 1.18–3.11), and the significance was maintained in multivariable analysis adjusting with age, ARDS etiology, and comorbidity, with an HR of 1.77 (95% CI, 1.05–2.91). The RALE score was a good predictor of ARDS-specific mortality, with a C-index of 0.607 (95% CI, 0.519–0.695). Conclusion The RALE score is a reliable measure for ARDS severity and a useful prognostic marker of mortality in children, especially for ARDS-specific mortality. This score provides information that clinicians can use to decide the proper time of aggressive therapy targeting severe lung injury and to appropriately manage the fluid balance of children with ARDS.

Background: Routine practice of antibiotic skin test (AST) before administering antibiotics is with little scientific basis. However, AST is frequently performed in real-world practice. We aimed to explore the current practice status of AST. Methods: All admission cases in Severance Hospital between January 2019 and December 2020 of patients at less than 19 years of age were collected retrospectively. AST results for 4 penicillins (ampicillin, ampicillin-sulbactam, amoxicillin-clavulanate, and piperacillin-tazobactam) and 6 cephalosporins (cefazolin, cefotaxime, cefotiam, cefpiramide, ceftriaxone, and flomoxef) as well as adverse drug reaction (ADR) reports were collected. Results: Among 36,381 hospitalization cases, 7,589 and 16,468 were administered penicillins and cephalosporins, respectively. Penicillins were administered without AST in 2,622 cases (35%), 2 (0.08%) of which showed ADR. Of the remaining 4,967 cases who received AST, 57 (1.1%) showed a positive reaction. For cephalosporins, 15,473 cases (94%) received antibiotics without AST. Among them, 17 cases (0.1%) showed ADRs. For 995 cases that rceived AST, 22 (2.2%) revealed a positive reaction. Among 79 cases who were AST positive, 10 took the original medication. Conclusion The current practice of AST reveals heterogeneous and inconsistent patterns. This brings the need for a standardized guideline for the safe and effective use of antibiotics.