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.

Drug-induced liver injury (DILI) is the serious and fatal drug-associated adverse effect, but its incidence is very low and individual variation in severity is substantial. Acetaminophen (APAP)-induced liver injury accounts for >50% of reported DILI cases but little is known for the cause of individual variations in the severity. Intrinsic genetic variation is considered a key element but the identity of the genes was not well-established. Here, pre-biopsy method and microarray technique was applied to uncover the key genes for APAP-induced liver injury in mice, and a cause and effect experiment employing quantitative real-time PCR was conducted to confirm the correlation between the uncovered genes and APAP-induced hepatotoxicity. We identified the innately and differentially expressed genes of mice susceptible to APAP-induced hepatotoxicity in the pre-biopsied liver tissue before APAP treatment through microarray analysis of the global gene expression profiles (Affymetrix GeneChip® Mouse Gene 1.0 ST for 28,853 genes). Expression of 16 genes including Gdap10, Lpl, Gabra3 and Ccrn4l were significantly different (t-test: FDR <10%) more than 1.5 fold in the susceptible animals than resistant. To confirm the association with the susceptibility to APAP-induced hepatotoxicity, another set of animals were measured for the expression level of selected 4 genes (higher two and lower two genes) in the liver pre-biopsy and their sensitivity to APAP-induced hepatotoxicity was evaluated by post hoc. Notably, the expressions of Gabra3 and Lpl were significantly correlated with the severity of liver injury (p<0.05) demonstrating that these genes may be linked to the susceptibility to APAP-induced hepatotoxicity.
Acetaminophen ; Animals ; Drug-Induced Liver Injury ; Genetic Variation ; Incidence ; Lipoprotein Lipase* ; Lipoproteins* ; Liver ; Methods ; Mice ; Microarray Analysis ; Real-Time Polymerase Chain Reaction ; Receptors, GABA-A* ; Toxicogenetics ; Transcriptome

OBJECTIVE: Low cholesterol is associated with depression among western countries. The objective of this study was to examine the relationship between cholesterol and depression in Korean population with low levels of serum cholesterol. METHODS: The data of about 740,000 individuals, aged 30-64 years at entry in the Korean Cancer Prevention Study, were used. Total cholesterol levels were measured in 1992. Depression was measured using the modified DSM-IV (Diagnostic Criteria of Major Depressive Episode in Diagnostic and Statistical Manual of Mental Disorders-IV) scale. Total cholesterol was classified into four groups (quartile). Odds Ratios of low level of cholesterol were evaluated using multi-variable logistic models. RESULTS: The prevalence of major depression was 7.7% in men and 10.4% in women. After adjustment for various confounding variables, an inverse association was detected between cholesterol levels and depression intensity among men and women. The odds ratio (95% confidence interval) of the lowest quartile of cholesterol was 1.16 (1.13-1.20) on major depression compared with the highest quartile of cholesterol in men. The corresponding odds ratio among women was 1.09 (1.04-1.15). The strongest association among 9 items of depression was found at "decreased appetite and lost weight" in both men (OR=1.68) and women (OR=1.43). CONCLUSION: Low cholesterol is associated with major depression in men and women. Further studies are necessary to evaluate the cross-validation, to explore the biological mechanism, and to identify the clinical implication.
Appetite ; Cholesterol ; Confounding Factors (Epidemiology) ; Depression* ; Diagnostic and Statistical Manual of Mental Disorders ; Epidemiology ; Female ; Humans ; Logistic Models ; Male ; Odds Ratio ; Prevalence

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.

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.

Gerstmann's syndrome, assigned to a lesion of the dominant parietal lobe, is a neurological disorder characterized by acalculia, agraphia, right-left disorientation and finger agnosia. Some studies report that these symptoms are also shown in other brain lesions. We report two patients who presented with this tetrad of symptoms in initial assessment. Their Brain MRI images both showed lesion of left frontal lobe. Over time, these symptoms became better but some still remained in last assessment. Accordingly, we suggest that a left frontal lesion cause Gerstmann's syndrome.
Agnosia ; Agraphia ; Brain ; Dyscalculia ; Frontal Lobe* ; Gerstmann Syndrome* ; Humans ; Magnetic Resonance Imaging ; Nervous System Diseases ; Parietal Lobe

Neuroblastoma is the most common pediatric extracranial solid tumor derived from primitive neural crest cells of the sympathetic nervous system. Although one-fifths of all neuroblastomas occurs within the thorax, thoracic neuroblastomas detected in fetus have been rarely reported. We report a case of fetal thoracic neuroblastoma with massive pleural effusion detected with prenatal ultrasonography. A 34-year-old Korean second-gravida was referred to our hospital at 30 weeks of gestation for evaluation, after the right lung mass found in the fetus. Approximately 3 cm, well-defined, hyperechoic mass was found in the right thorax with right pleural effusion, with the initial suspicion of teratoma. However, as mass continued to grow with deteriorating pleural effusion and fetal hydrops, the mass was considered malignant after 3 weeks. After a cesarean delivery, an approximately 4 cm mass with peripheral calcification and hemothorax was found on neonatal ultrasonography. Neuroblastoma was diagnosed on excision biopsy.
Adult ; Biopsy ; Fetus ; Hemothorax ; Humans ; Hydrops Fetalis ; Lung ; Mediastinum ; Neural Crest ; Neuroblastoma* ; Pleural Effusion ; Pregnancy ; Sympathetic Nervous System ; Teratoma ; Thorax ; Ultrasonography ; Ultrasonography, Prenatal