Objectives: The purpose of this study was to develop a screening tool that is simple and easy to use for assessing sleep problems, including hypersomnolence, restless legs syndrome, and insomnia. We also examined the reliability and validity of this tool. Methods: We developed the Sleep Problem Screening Questionnaire (SPSQ), which consists of three sub-sections: insomnia (SPSQi), hypersomnolence (SPSQh), and restless legs syndrome (SPSQr). Subsequently, the participants, consisting of 222 patients with insomnia disorder and 78 healthy individuals, completed both the SPSQ and the comparative scale (Korean version of the Insomnia Severity Index). The analysis was then conducted using this data. Results: The SPSQ demonstrated good convergent and discriminant validity, as well as satisfactory internal consistency. A cutoff score of 6 on the SPSQi was found to be optimal for distinguishing individuals with insomnia. Conclusion The results of this study suggest that the SPSQ is a reliable and valid tool for screening sleep problems among general adult population. However, there is a limitation as a comparison and validation with scales related to restless legs syndrome and hypersomnolence were not conducted.

BACKGROUND: Cystic fibrosis is a chronic progressive autosomal recessive disorder caused by the CFTR gene mutations. It is quite common in Caucasians, but very rare in Asians. Sweat chloride test is known to be a screening test for the cystic fibrosis due to the fact that electrolyte levels in sweat are elevated in patients. In this study, sweat chloride levels in Korean population were measured and analyzed by using standardized pilocarpine iontophoresis sweat chloride test. METHODS: The sweat chloride test was performed in 47 patients referred to Yondong Severance Hospital from August, 2001 to April, 2007 and 41 healthy volunteers. The sweat chloride tests were conducted according to the CLSI C34-A2 guideline using pilocarpine iontophoresis method, and the chloride concentrations in sweat were measured by mercurimetric titration. RESULTS: Four patients showed sweat chloride concentrations higher than 60 mmol/L. Reference interval was calculated as 1.4-44.5 mmol/L by analysis of the results of healthy volunteers (n=41). Four patients who exhibited high sweat chloride levels, had characteristic clinical features of cystic fibrosis and their diagnoses were confirmed either by repeated sweat chloride test or genetic analysis. CONCLUSIONS: Standardized sweat chloride test can be utilized as a useful diagnostic tool for cystic fibrosis in Koreans. In cases of sweat chloride levels higher than 40 mmol/L, the test should be repeated for the possible diagnosis of cystic fibrosis. All the confirmed Korean cases of cystic fibrosis showed sweat chloride level above 60 mmol/L.
Adolescent ; Adult ; Child ; Child, Preschool ; Chlorides/*analysis/*standards ; Cystic Fibrosis/*diagnosis/genetics ; Female ; Humans ; Infant ; Iontophoresis/methods ; Korea ; Male ; Middle Aged ; Pilocarpine/chemistry ; Sequence Analysis, DNA ; Sweat/chemistry/*secretion

Background and Objectives: It is well recognized that early detection and intervention are most important for the prevention of neonatal hearing loss. The national support policy in Korea for newborn hearing screening has been changed since October 2018; however, parent awareness of the change still needs to be increased. This study investigated how well parents, who have underwent national infant checkups of their children, were aware of the Korean national policy for neonatal and infant hearing loss in parents.Subjects and Method A survey of neonatal hearing tests and national support policies conducted for 353 parents was analyzed. The survey included questions about parent awareness of the neonatal hearing screening test period, confirmatory test period, national support for these expenses, and hearing aid support. Also evaluated were the necessity of national guidance and management system for neonatal hearing. Results: The test time of neonatal hearing screening was correctly recognized by 82.2% of the parents. The percentage increased after the national insurance coverage started in October 2018 in Korea, and the rate was higher for parents who visited an otolaryngology clinic rather than a pediatric clinic. The test time of the confirmatory test was correctly recognized only by 20.4%. National support policy for neonatal hearing screening tests, confirmatory hearing tests, and hearing aids were acknowledged by 50.7%, 43.1%, and 56.1% of the parents, respectively. Conclusion These results indicate the necessity of efforts to increase the awareness of neonatal hearing tests and relevant support policies in Korea to ultimately achieve early hearing detection and intervention of neonates and infants in Korea.

BACKGROUND: Molecular techniques are fundamental for establishing an accurate diagnosis and therapeutic approach of glycogen storage diseases (GSDs). We aimed to evaluate SLC37A4 mutation spectrum in Korean GSD Ib patients. METHODS: Nine Korean patients from eight unrelated families with GSD Ib were included. SLC37A4 mutations were detected in all patients with direct sequencing using a PCR method and/or whole-exome sequencing. A comprehensive review of previously reported SLC37A4 mutations was also conducted. RESULTS: Nine different pathogenic SLC37A4 mutations were identified in the nine patients with GSD Ib. Among them, four novel mutations were identified: c.148G>A (pGly50Arg), c.320G>A (p.Trp107*), c.412T>C (p.Trp138Arg), and c.818G>A (p.Gly273Asp). The most common mutation type was missense mutations (66.7%, 6/9), followed by nonsense mutations (22.2%, 2/9) and small deletion mutations (11.1%, 1/9). The most common mutation identified in the Korean population was c.443C>T (p.Ala148Val), which comprised 39.9% (7/18) of all tested alleles. This mutation has not been reported in GSD Ib patients in other ethnic populations. CONCLUSIONS: This study expands knowledge of the SLC37A4 mutation spectrum in Korean patients with GSD Ib.
Alleles ; Codon, Nonsense ; Diagnosis ; Glycogen Storage Disease* ; Glycogen* ; Humans ; Methods ; Mutation, Missense ; Polymerase Chain Reaction ; Sequence Deletion