Paramyotonia congenita (PMC) is characterized by nondystrophic myotonia aggravated by exercise and cold exposure. SCN4A mutations manifest as various phenotypes of channelopathy, including PMC, myotonia congenita, and periodic paralysis. SCN4A-related channelopathy is characterized by autosomal dominant inheritance. Parental gonadal mosaicism is suspected in cases of recurrent de novo mutation in an autosomal dominantly inherited disease. We report a case of two Korean brothers presenting with PMC due to same de novo SCN4A point mutation, probably due to parental gonadal mosaicism.

Studies over the last 2 decades have identified IL-17 and IL-21 as key cytokines in the modulation of a wide range of immune responses. IL-17 serves as a critical defender against bacterial and fungal pathogens, while maintaining symbiotic relationships with commensal microbiota. However, alterations in its levels can lead to chronic inflammation and autoimmunity. IL-21, on the other hand, bridges the adaptive and innate immune responses, and its imbalance is implicated in autoimmune diseases and cancer, highlighting its important role in both health and disease. Delving into the intricacies of these cytokines not only opens new avenues for understanding the immune system, but also promises innovative advances in the development of therapeutic strategies for numerous diseases. In this review, we will discuss an updated view of the immunobiology and therapeutic potential of IL-17 and IL-21.

Sleep disorders and normal pressure hydrocephalus (NPH) are increasingly important issues observed in neurological disorders. However, the correlation between these diseases has not been sufficiently studied. Thus, we discuss the correlation between sleep disorders and the clinical features of NPH. Methods: Overall, 40 patients with idiopathic NPH were included in the study. To evaluate the sleep disorders and psychiatric problems, surveys were administered, including the 36-Item Short Form Survey, Pittsburgh Sleep Quality Index (PSQI), Epworth Sleepiness Scale (ESS), Insomnia Severity Index (ISI), Berlin Questionnaire, STOP-Bang Questionnaire, Hospital Anxiety and Depression Scale (HADS), Morningness-Eveningness Questionnaire, and the REM Sleep Behavior Disorder Screening Questionnaire. To evaluate the severity of dementia and ataxia, all of the patients completed the Korean mini-mental state examination; Korea frontal assessment battery score, amd unified Parkinson’s disease rating scale-motor scores before and after cerebrospinal fluid (CSF) drainage. The Pearson’s chi-square test, independent Student’s t-test, Mann–Whitney U test, and linear regression analysis were used to analyze the relationship between sleep disorders and symptom improvement after CSF drainage. Results: Of the 40 patients, 21 patients had poor sleep quality (PSQI>5), 8 patients had insomnia (ISI≥8), 11 patients had daytime sleepiness (ESS≥11), 9 (STOP-Bang≥3) to 13 (Berlin≥2 categories) patients had sleep apnea, 13 patients were anxious (HAS≥8), and 27 patients were depressed (HDS≥8). A linear regression analysis showed that sleep apnea was significantly correlated with cognitive function, and insomnia was correlated with cognitive, motor, and frontal lobe functions. Additionally, patients with severe sleep apnea demonstrated a greater recovery of cognitive function after CSF drainage. Conclusions: Obstructive sleep apnea (OSA) is closely related to the clinical symptoms and treatment effectiveness of NPH. The diagnosis and proper treatment of OSA is expected to improve the prognosis of patients with NPH.

Background: Data on severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) delta variant virulence are insufficient. We retrospectively compared the clinical features of adult coronavirus disease 2019 (COVID-19) patients without risk factors for severe COVID-19 who entered residential treatment centers (RTCs) before and after the delta variant outbreak. Methods: We collected medical information from two RTCs in South Korea. On the basis of nationwide delta variant surveillance, we divided the patients into two groups: 1) the delta-minor group (diagnosed from December 2020–June 2021, detection rate < 10%) and 2) the delta-dominant group (diagnosed during August 2021, detection rate > 90%). After propensity-score matching, the incidences of pneumonia, hospital transfer and need for supplemental oxygen were compared between the groups. In addition, risk factors for hospital transfer were analysed. Results: A total of 1,915 patients were included. The incidence of pneumonia (14.6% vs.9.2%, P = 0.009), all-cause hospital transfer (10.4% vs. 6.3%, P = 0.020) and COVID-19-related hospital transfer (7.5% vs. 4.8%, P = 0.081) were higher in the delta-dominant group than those in the delta-minor group. In the multivariate analysis, the delta-dominant group was an independent risk factor for all-cause (adjusted odds ratio [aOR], 1.91; 95% confidence interval [CI], 1.16–3.13; P = 0.011) and COVID-19-related hospital transfer (aOR, 1.86; 95% CI, 1.04–3.32; P = 0.036). Conclusion Hospitalization rates were increased in the adult COVID-19 patients during the delta variant nationwide outbreak. Our results showed that the delta variant may be more virulent than previous lineages.

Background: The purpose of this study was to evaluate the current status and trends in the coverage of molecular drug susceptibility testing (mDST), and the impact of mDST on the time to multidrug-resistant tuberculosis (MDR-TB) treatment initiation in Korea. Methods: We included confirmed rifampin-resistant (RR)/MDR-TB patients who submitted application forms for novel drug uses to the National TB Expert Review Committee from September 1, 2016 to November 30, 2019. We retrospectively reviewed their medical records. Results: Of the 621 MDR/RR-TB patients, mDST was performed in 442 (71.2%); Xpert MTB/ RIF (Xpert) alone in 109 (17.6%), MTBDRplus line probe assay (LPA) alone in 199 (32.0%), and both Xpert and LPA in 134 (21.6%) patients. The coverage rate of mDST has gradually increased to 70% in 2015, 50.7% in 2016, 67.9% in 2017, 75.2% in 2018, and 79.4% in 2019 (p for trend < 0.001). Median time to MDR-TB treatment initiation was 35 days (interquartile range 25–75 0–72), which has gradually decreased during the study period (p< 0.001).Independent predictors of shorter time to MDR-TB treatment initiation were retreatment case (adjusted hazard ratio [aHR], 1.30; 95% confidence interval [CI], 1.10–1.54), Xpert testing (aHR, 2.42; 95% CI, 2.03–2.88), and LPA testing (aHR, 1.83; 95% CI, 1.55–2.16).Transfer to another healthcare facility was inversely related to shorter time to treatment initiation (aHR, 0.74; 95% CI, 0.63–0.88). Conclusion mDST coverage is gradually increasing and contributes to reducing the time to MDR-TB treatment initiation. Further efforts are needed to achieve universal access to mDST and to properly integrate mDST into routine clinical practice.

A 6-month-old boy was scheduled for a laryngeal mass excision and tracheal bougienage for secondary subglottic stenosis. Following successful excision of the laryngeal mass, a tracheal tube was temporarily extubated for tracheal bougination. However, tracheal re-intubation using a direct laryngoscope with the Miller blade failed because of mucosal swelling and bloody secretions. Following multiple intubation attempts, the patient's peripheral oxygen saturation had decreased to 52%. Immediately, a video laryngoscope was requested, and, by using the C-MAC® video laryngoscope, the patient was successfully re-intubated. Because pediatric patients are more vulnerable to desaturation, extreme caution should be used in securing airways even during a short apneic period. Using a video laryngoscope at the first intubation attempt would be useful for successful tracheal intubation.
Constriction, Pathologic ; Humans ; Infant* ; Intubation* ; Laryngoscopes* ; Male ; Oxygen ; Pediatrics

A 6-month-old boy was scheduled for a laryngeal mass excision and tracheal bougienage for secondary subglottic stenosis. Following successful excision of the laryngeal mass, a tracheal tube was temporarily extubated for tracheal bougination. However, tracheal re-intubation using a direct laryngoscope with the Miller blade failed because of mucosal swelling and bloody secretions. Following multiple intubation attempts, the patient's peripheral oxygen saturation had decreased to 52%. Immediately, a video laryngoscope was requested, and, by using the C-MAC® video laryngoscope, the patient was successfully re-intubated. Because pediatric patients are more vulnerable to desaturation, extreme caution should be used in securing airways even during a short apneic period. Using a video laryngoscope at the first intubation attempt would be useful for successful tracheal intubation.
Constriction, Pathologic ; Humans ; Infant* ; Intubation* ; Laryngoscopes* ; Male ; Oxygen ; Pediatrics

OBJECTIVES: Various sleep patterns may be shown in adolescents to be busy for studying. The aim of this study was to investigate sleep-wake patterns and to evaluate predictors of daytime sleepiness. METHODS: Among 1011 high school students living in Cheonan-si, demographic variables and self-reported questionnaires, including items about menstruation, Morningness-Eveningness Questionnaire (MEQ), Beck Depression Inventory (BDI), Pittsburgh Sleep Quality Index, and Epworth Sleepiness Scale (ESS) were admitted. RESULTS: total of 839 students (male=453, female=386) completed questionnaires. Significant differences in sleep pattern, categorized by score of MEQ (p=0.004), ESS (p<0.001), and BDI (p=0.012) were observed between male and female subjects. Logistic regression analysis showed that excessive daytime sleepiness was predicted by female [odds ratio (OR)=2.039, p=0.022] and sleep quality (OR=1.238, p=0.004). In the regression analysis of female students, dysmenorrhea (beta=0.108, p=0.029), eating of caffeine (beta=-0.114, p=0.019), MEQ (beta=-0.108, p=0.027), insomnia (beta=0.180, p=0.002), and depression (beta=0.116, p=0.029) might be associated with daytime sleepiness. CONCLUSION: In Korean high school students, female and sleep quality might be risk factors of daytime sleepiness. Daytime sleepiness was known to be related with cognitive dysfunction. Therefore, an education program for improving sleep quality in these adolescents should be considered for mental health.
Adolescent ; Caffeine ; Depression ; Dysmenorrhea ; Eating ; Education ; Female ; Humans ; Logistic Models ; Male ; Menstruation ; Mental Health ; Surveys and Questionnaires ; Risk Factors ; Sleep Initiation and Maintenance Disorders

OBJECTIVES: Idiopathic REM sleep behavior disorder (RBD) is by far the strongest clinical predictor of neurodegenerative disease available. Several potential early diagnostic markers of neurodegenerative disease including autonomic symptoms have been proposed, but they have generally not been tested in presymptomatic neurodegenerative disease. So the authors investigated autonomic symptoms and their associated factors in idiopathic RBD patients. METHODS: 52 idiopathic RBD patients and 52 controls participated in the study. Autonomic symptoms were evaluated by applying the unified multiple system atrophy rating scale (UMSARS) and measuring orthostatic systolic blood pressure drop. RESULTS: Idiopathic RBD patients showed significantly higher UMSARS subscale scores and sharper drop of orthostatic systolic blood pressure than controls. In multiple linear regression analysis, all autonomic symptoms and measured orthostatic systolic blood pressure drop were associated with RBD. In addition, orthostatic symptoms were associated with medication and age, urinary function was associated with benign prostatic hyperplasia, and measured orthostatic systolic blood pressure drop was associated with hypertension. CONCLUSION: In this study, idiopathic RBD patients showed more autonomic symptoms than controls. However, other autonomic symptoms-related factors also influenced some autonomic symptoms. Prospective studies should be performed to evaluate autonomic symptoms as a potential predictor of neurodegenerative diseases.
Aged* ; Blood Pressure ; Humans ; Hypertension ; Linear Models ; Multiple System Atrophy ; Neurodegenerative Diseases ; Prostatic Hyperplasia ; REM Sleep Behavior Disorder* ; Sleep, REM*