Objective: Apnea in newborns is defined as a respiratory pause of 20 seconds or longer, or apnea accompanied by bradycardia or cyanosis. To date, research on neonatal apnea has focused on premature infants born within 34 weeks of gestation. The aim of this study is to present clinical significance of apnea in full-term infants compared with late premature infants born over 34 weeks of gestation. Methods: In a retrospective study, we reviewed medical records of neonates born over 34 weeks of gestation hospitalized for apnea and their mothers from November 2020 to May 2024. A total of 124 neonates were collected and divided into full-term infants (n=54) and late preterm infants (n=70) groups. Results: The mean gestational age of full-term and late preterm infants was 38 +5 weeks and 35 +2weeks, and the mean birth weight was 3.16 kg and 2.14 kg. Apnea was associated with diseases in 44.4% of full-term infants and 38.6% of late preterm infants. The rates of multiple births, small for gestational age, and cesarean section deliveries were significantly higher in late preterm infants.Apnea occurred significantly earlier and recovered faster in full-term infants. Neurologic disease was significantly more occurred in full-term infants (P=0.021). Especially, cerebral infarction and seizure were diagnosed only in full-term infants. Conclusion Apnea occurred earlier in full-term infants and severe neurologic diseases were significantly more found in full-term infants compared with late preterm infants. A close examination is needed in full-term infants with apnea.

Objective: Apnea in newborns is defined as a respiratory pause of 20 seconds or longer, or apnea accompanied by bradycardia or cyanosis. To date, research on neonatal apnea has focused on premature infants born within 34 weeks of gestation. The aim of this study is to present clinical significance of apnea in full-term infants compared with late premature infants born over 34 weeks of gestation. Methods: In a retrospective study, we reviewed medical records of neonates born over 34 weeks of gestation hospitalized for apnea and their mothers from November 2020 to May 2024. A total of 124 neonates were collected and divided into full-term infants (n=54) and late preterm infants (n=70) groups. Results: The mean gestational age of full-term and late preterm infants was 38 +5 weeks and 35 +2weeks, and the mean birth weight was 3.16 kg and 2.14 kg. Apnea was associated with diseases in 44.4% of full-term infants and 38.6% of late preterm infants. The rates of multiple births, small for gestational age, and cesarean section deliveries were significantly higher in late preterm infants.Apnea occurred significantly earlier and recovered faster in full-term infants. Neurologic disease was significantly more occurred in full-term infants (P=0.021). Especially, cerebral infarction and seizure were diagnosed only in full-term infants. Conclusion Apnea occurred earlier in full-term infants and severe neurologic diseases were significantly more found in full-term infants compared with late preterm infants. A close examination is needed in full-term infants with apnea.

Objective: Apnea in newborns is defined as a respiratory pause of 20 seconds or longer, or apnea accompanied by bradycardia or cyanosis. To date, research on neonatal apnea has focused on premature infants born within 34 weeks of gestation. The aim of this study is to present clinical significance of apnea in full-term infants compared with late premature infants born over 34 weeks of gestation. Methods: In a retrospective study, we reviewed medical records of neonates born over 34 weeks of gestation hospitalized for apnea and their mothers from November 2020 to May 2024. A total of 124 neonates were collected and divided into full-term infants (n=54) and late preterm infants (n=70) groups. Results: The mean gestational age of full-term and late preterm infants was 38 +5 weeks and 35 +2weeks, and the mean birth weight was 3.16 kg and 2.14 kg. Apnea was associated with diseases in 44.4% of full-term infants and 38.6% of late preterm infants. The rates of multiple births, small for gestational age, and cesarean section deliveries were significantly higher in late preterm infants.Apnea occurred significantly earlier and recovered faster in full-term infants. Neurologic disease was significantly more occurred in full-term infants (P=0.021). Especially, cerebral infarction and seizure were diagnosed only in full-term infants. Conclusion Apnea occurred earlier in full-term infants and severe neurologic diseases were significantly more found in full-term infants compared with late preterm infants. A close examination is needed in full-term infants with apnea.

Background: The accuracy of Logical Observation Identifiers Names and Codes (LOINC) mappings is reportedly low, and the LOINC codes used for research purposes in Korea have not been validated for accuracy or usability. Our study aimed to evaluate the discrepancies and similarities in interoperability using existing LOINC mappings in actual patient care settings. Methods: We collected data on local test codes and their corresponding LOINC mappings from seven university hospitals. Our analysis focused on laboratory tests that are frequently requested, excluding clinical microbiology and molecular tests. Codes from nationwide proficiency tests served as intermediary benchmarks for comparison. A research team, comprising clinical pathologists and terminology experts, utilized the LOINC manual to reach a consensus on determining the most suitable LOINC codes. Results: A total of 235 LOINC codes were designated as optimal codes for 162 frequent tests.Among these, 51 test items, including 34 urine tests, required multiple optimal LOINC codes, primarily due to unnoted properties such as whether the test was quantitative or qualitative, or differences in measurement units. We analyzed 962 LOINC codes linked to 162 tests across seven institutions, discovering that 792 (82.3%) of these codes were consistent. Inconsistencies were most common in the analyte component (38 inconsistencies, 33.3%), followed by the method (33 inconsistencies, 28.9%), and properties (13 inconsistencies, 11.4%). Conclusion This study reveals a significant inconsistency rate of over 15% in LOINC mappings utilized for research purposes in university hospitals, underlining the necessity for expert verification to enhance interoperability in real patient care.

Background: The accuracy of Logical Observation Identifiers Names and Codes (LOINC) mappings is reportedly low, and the LOINC codes used for research purposes in Korea have not been validated for accuracy or usability. Our study aimed to evaluate the discrepancies and similarities in interoperability using existing LOINC mappings in actual patient care settings. Methods: We collected data on local test codes and their corresponding LOINC mappings from seven university hospitals. Our analysis focused on laboratory tests that are frequently requested, excluding clinical microbiology and molecular tests. Codes from nationwide proficiency tests served as intermediary benchmarks for comparison. A research team, comprising clinical pathologists and terminology experts, utilized the LOINC manual to reach a consensus on determining the most suitable LOINC codes. Results: A total of 235 LOINC codes were designated as optimal codes for 162 frequent tests.Among these, 51 test items, including 34 urine tests, required multiple optimal LOINC codes, primarily due to unnoted properties such as whether the test was quantitative or qualitative, or differences in measurement units. We analyzed 962 LOINC codes linked to 162 tests across seven institutions, discovering that 792 (82.3%) of these codes were consistent. Inconsistencies were most common in the analyte component (38 inconsistencies, 33.3%), followed by the method (33 inconsistencies, 28.9%), and properties (13 inconsistencies, 11.4%). Conclusion This study reveals a significant inconsistency rate of over 15% in LOINC mappings utilized for research purposes in university hospitals, underlining the necessity for expert verification to enhance interoperability in real patient care.

Background: The accuracy of Logical Observation Identifiers Names and Codes (LOINC) mappings is reportedly low, and the LOINC codes used for research purposes in Korea have not been validated for accuracy or usability. Our study aimed to evaluate the discrepancies and similarities in interoperability using existing LOINC mappings in actual patient care settings. Methods: We collected data on local test codes and their corresponding LOINC mappings from seven university hospitals. Our analysis focused on laboratory tests that are frequently requested, excluding clinical microbiology and molecular tests. Codes from nationwide proficiency tests served as intermediary benchmarks for comparison. A research team, comprising clinical pathologists and terminology experts, utilized the LOINC manual to reach a consensus on determining the most suitable LOINC codes. Results: A total of 235 LOINC codes were designated as optimal codes for 162 frequent tests.Among these, 51 test items, including 34 urine tests, required multiple optimal LOINC codes, primarily due to unnoted properties such as whether the test was quantitative or qualitative, or differences in measurement units. We analyzed 962 LOINC codes linked to 162 tests across seven institutions, discovering that 792 (82.3%) of these codes were consistent. Inconsistencies were most common in the analyte component (38 inconsistencies, 33.3%), followed by the method (33 inconsistencies, 28.9%), and properties (13 inconsistencies, 11.4%). Conclusion This study reveals a significant inconsistency rate of over 15% in LOINC mappings utilized for research purposes in university hospitals, underlining the necessity for expert verification to enhance interoperability in real patient care.

Objective: Apnea in newborns is defined as a respiratory pause of 20 seconds or longer, or apnea accompanied by bradycardia or cyanosis. To date, research on neonatal apnea has focused on premature infants born within 34 weeks of gestation. The aim of this study is to present clinical significance of apnea in full-term infants compared with late premature infants born over 34 weeks of gestation. Methods: In a retrospective study, we reviewed medical records of neonates born over 34 weeks of gestation hospitalized for apnea and their mothers from November 2020 to May 2024. A total of 124 neonates were collected and divided into full-term infants (n=54) and late preterm infants (n=70) groups. Results: The mean gestational age of full-term and late preterm infants was 38 +5 weeks and 35 +2weeks, and the mean birth weight was 3.16 kg and 2.14 kg. Apnea was associated with diseases in 44.4% of full-term infants and 38.6% of late preterm infants. The rates of multiple births, small for gestational age, and cesarean section deliveries were significantly higher in late preterm infants.Apnea occurred significantly earlier and recovered faster in full-term infants. Neurologic disease was significantly more occurred in full-term infants (P=0.021). Especially, cerebral infarction and seizure were diagnosed only in full-term infants. Conclusion Apnea occurred earlier in full-term infants and severe neurologic diseases were significantly more found in full-term infants compared with late preterm infants. A close examination is needed in full-term infants with apnea.

Background: The accuracy of Logical Observation Identifiers Names and Codes (LOINC) mappings is reportedly low, and the LOINC codes used for research purposes in Korea have not been validated for accuracy or usability. Our study aimed to evaluate the discrepancies and similarities in interoperability using existing LOINC mappings in actual patient care settings. Methods: We collected data on local test codes and their corresponding LOINC mappings from seven university hospitals. Our analysis focused on laboratory tests that are frequently requested, excluding clinical microbiology and molecular tests. Codes from nationwide proficiency tests served as intermediary benchmarks for comparison. A research team, comprising clinical pathologists and terminology experts, utilized the LOINC manual to reach a consensus on determining the most suitable LOINC codes. Results: A total of 235 LOINC codes were designated as optimal codes for 162 frequent tests.Among these, 51 test items, including 34 urine tests, required multiple optimal LOINC codes, primarily due to unnoted properties such as whether the test was quantitative or qualitative, or differences in measurement units. We analyzed 962 LOINC codes linked to 162 tests across seven institutions, discovering that 792 (82.3%) of these codes were consistent. Inconsistencies were most common in the analyte component (38 inconsistencies, 33.3%), followed by the method (33 inconsistencies, 28.9%), and properties (13 inconsistencies, 11.4%). Conclusion This study reveals a significant inconsistency rate of over 15% in LOINC mappings utilized for research purposes in university hospitals, underlining the necessity for expert verification to enhance interoperability in real patient care.

Objective: Apnea in newborns is defined as a respiratory pause of 20 seconds or longer, or apnea accompanied by bradycardia or cyanosis. To date, research on neonatal apnea has focused on premature infants born within 34 weeks of gestation. The aim of this study is to present clinical significance of apnea in full-term infants compared with late premature infants born over 34 weeks of gestation. Methods: In a retrospective study, we reviewed medical records of neonates born over 34 weeks of gestation hospitalized for apnea and their mothers from November 2020 to May 2024. A total of 124 neonates were collected and divided into full-term infants (n=54) and late preterm infants (n=70) groups. Results: The mean gestational age of full-term and late preterm infants was 38 +5 weeks and 35 +2weeks, and the mean birth weight was 3.16 kg and 2.14 kg. Apnea was associated with diseases in 44.4% of full-term infants and 38.6% of late preterm infants. The rates of multiple births, small for gestational age, and cesarean section deliveries were significantly higher in late preterm infants.Apnea occurred significantly earlier and recovered faster in full-term infants. Neurologic disease was significantly more occurred in full-term infants (P=0.021). Especially, cerebral infarction and seizure were diagnosed only in full-term infants. Conclusion Apnea occurred earlier in full-term infants and severe neurologic diseases were significantly more found in full-term infants compared with late preterm infants. A close examination is needed in full-term infants with apnea.

Sensorineural hearing loss (SNHL) is the most common sensory disorder, with a high Mendelian genetic contribution. Considering the genotypic and phenotypic heterogeneity of SNHL, the advent of next-generation sequencing technologies has revolutionized knowledge on its genomic architecture. Nonetheless, the conventional application of panel and exome sequencing in real-world practice is being challenged by the emerging need to explore the diagnostic capability of whole-genome sequencing, which enables the detection of both noncoding and structural variations. Small molecules and gene therapies represent good examples of how breakthroughs in genetic understanding can be translated into targeted therapies for SNHL. For example, targeted small molecules have been used to ameliorate autoinflammatory hearing loss caused by gain-of-function variants of NLRP3 and inner ear proteinopathy with OSBPL2 variants underlying dysfunctional autophagy. Strikingly, the successful outcomes of the first-in-human trial of OTOF gene therapy highlighted its potential in the treatment of various forms of genetic hearing loss. clustered regularly interspaced short palindromic repeats (CRISPR)-based technologies are currently being developed for site-specific genome editing to treat human genetic disorders. These advancements have led to an era of genotype- and mechanism-based precision medicine in SNHL practice.