Purpose: To investigate the clinical efficacy of rebamipide eyedrops in patients with meibomian gland dysfunction (MGD) associated with Sjögren’s syndrome. Methods: The study included 50 patients with Sjögren’s syndrome accompanied by MGD treated with 0.05% (w/v) cyclosporine and 0.15% (w/v) sodium hyaluronate eyedrops. They were divided into two groups: 25 who added rebamipide eyedrops to their existing treatments and a control group of 25 whose treatments did not change. We evaluated the tear breakup time, the Schirmer test and conjunctival staining scores, meibomian gland quality and function, and eyelid margin irregularity before prescribing rebamipide eyedrops and 1 and 3 months after prescription. Additionally, before eyedrops use and 3 months later, meibographic scores were assessed via imaging of the meibomian gland and ocular surface disease index values also were assessed. Results: The rebamipide group exhibited significant improvements in the tear breakup time, conjunctival staining score, and ocular surface disease index compared to before treatment (all p < 0.05). However, the Schirmer test result, meibomian gland quality and function, and eyelid margin irregularity did not differ between either groups before or after treatment. After 3 months of eyedrop use, the rebamipide group exhibited a significantly higher tear breakup time (p < 0.01) and Schirmer test score (p < 0.01) than the control group (p = 0.01), and significantly lower ocular surface disease index and conjunctival staining scores (p < 0.01). Conclusions Addition of rebamipide eyedrops to the conventional treatment of patients with Sjögren’s syndrome accompanied by MGD effectively improves dry eye symptoms and the ocular surface parameters.

Purpose: Radio-Tartaglia syndrome (RTS; Mendelian Inheritance in Man [MIM]: 619312) is a rare neurodevelopmental disorder with few reported cases and limited research. It has recently been reported that the clinical features of RTS overlap with those of 1p36 deletion syndrome (1p36DS), a common chromosomal deletion characterized by clinical and molecular heterogeneity. This study aims to report on a Korean patient with RTS and compare the clinical and molecular features with those of patients with 1p36DS. Methods: A 3-year-old boy was brought to the hospital and underwent whole genome sequencing to evaluate developmental delay and multiple anomalies. This led to the identification of a de novo truncating variant in SPEN. We retrospectively investigated cases of 1p36DS that were either newly diagnosed at our institution or previously reported in the literature and databases. Results: The clinical profile of RTS includes developmental delay/intellectual disability, hypotonia, feeding difficulties, congenital heart defects, and facial dysmorphisms. SPEN is frequently found within the deleted region associated with 1p36DS. However, in all reported Korean cases of 1p36DS, the deletions were distal and did not involve SPEN; despite this, the clinical features of the disorder overlap considerably with those of RTS. Conclusion SPEN is a newly identified gene that plays a role in various developmental processes. Therefore, it is essential to include SPEN in genetic testing when diagnosing patients suspected of having a neurodevelopmental disorder. Additional research is required to explore the molecular and clinical features, as well as the prognosis, of patients with either an isolated SPEN mutation or one that co-occurs with 1p36DS.

Purpose: To investigate the clinical efficacy of rebamipide eyedrops in patients with meibomian gland dysfunction (MGD) associated with Sjögren’s syndrome. Methods: The study included 50 patients with Sjögren’s syndrome accompanied by MGD treated with 0.05% (w/v) cyclosporine and 0.15% (w/v) sodium hyaluronate eyedrops. They were divided into two groups: 25 who added rebamipide eyedrops to their existing treatments and a control group of 25 whose treatments did not change. We evaluated the tear breakup time, the Schirmer test and conjunctival staining scores, meibomian gland quality and function, and eyelid margin irregularity before prescribing rebamipide eyedrops and 1 and 3 months after prescription. Additionally, before eyedrops use and 3 months later, meibographic scores were assessed via imaging of the meibomian gland and ocular surface disease index values also were assessed. Results: The rebamipide group exhibited significant improvements in the tear breakup time, conjunctival staining score, and ocular surface disease index compared to before treatment (all p < 0.05). However, the Schirmer test result, meibomian gland quality and function, and eyelid margin irregularity did not differ between either groups before or after treatment. After 3 months of eyedrop use, the rebamipide group exhibited a significantly higher tear breakup time (p < 0.01) and Schirmer test score (p < 0.01) than the control group (p = 0.01), and significantly lower ocular surface disease index and conjunctival staining scores (p < 0.01). Conclusions Addition of rebamipide eyedrops to the conventional treatment of patients with Sjögren’s syndrome accompanied by MGD effectively improves dry eye symptoms and the ocular surface parameters.

Purpose: Radio-Tartaglia syndrome (RTS; Mendelian Inheritance in Man [MIM]: 619312) is a rare neurodevelopmental disorder with few reported cases and limited research. It has recently been reported that the clinical features of RTS overlap with those of 1p36 deletion syndrome (1p36DS), a common chromosomal deletion characterized by clinical and molecular heterogeneity. This study aims to report on a Korean patient with RTS and compare the clinical and molecular features with those of patients with 1p36DS. Methods: A 3-year-old boy was brought to the hospital and underwent whole genome sequencing to evaluate developmental delay and multiple anomalies. This led to the identification of a de novo truncating variant in SPEN. We retrospectively investigated cases of 1p36DS that were either newly diagnosed at our institution or previously reported in the literature and databases. Results: The clinical profile of RTS includes developmental delay/intellectual disability, hypotonia, feeding difficulties, congenital heart defects, and facial dysmorphisms. SPEN is frequently found within the deleted region associated with 1p36DS. However, in all reported Korean cases of 1p36DS, the deletions were distal and did not involve SPEN; despite this, the clinical features of the disorder overlap considerably with those of RTS. Conclusion SPEN is a newly identified gene that plays a role in various developmental processes. Therefore, it is essential to include SPEN in genetic testing when diagnosing patients suspected of having a neurodevelopmental disorder. Additional research is required to explore the molecular and clinical features, as well as the prognosis, of patients with either an isolated SPEN mutation or one that co-occurs with 1p36DS.

Purpose: Radio-Tartaglia syndrome (RTS; Mendelian Inheritance in Man [MIM]: 619312) is a rare neurodevelopmental disorder with few reported cases and limited research. It has recently been reported that the clinical features of RTS overlap with those of 1p36 deletion syndrome (1p36DS), a common chromosomal deletion characterized by clinical and molecular heterogeneity. This study aims to report on a Korean patient with RTS and compare the clinical and molecular features with those of patients with 1p36DS. Methods: A 3-year-old boy was brought to the hospital and underwent whole genome sequencing to evaluate developmental delay and multiple anomalies. This led to the identification of a de novo truncating variant in SPEN. We retrospectively investigated cases of 1p36DS that were either newly diagnosed at our institution or previously reported in the literature and databases. Results: The clinical profile of RTS includes developmental delay/intellectual disability, hypotonia, feeding difficulties, congenital heart defects, and facial dysmorphisms. SPEN is frequently found within the deleted region associated with 1p36DS. However, in all reported Korean cases of 1p36DS, the deletions were distal and did not involve SPEN; despite this, the clinical features of the disorder overlap considerably with those of RTS. Conclusion SPEN is a newly identified gene that plays a role in various developmental processes. Therefore, it is essential to include SPEN in genetic testing when diagnosing patients suspected of having a neurodevelopmental disorder. Additional research is required to explore the molecular and clinical features, as well as the prognosis, of patients with either an isolated SPEN mutation or one that co-occurs with 1p36DS.

Purpose: Radio-Tartaglia syndrome (RTS; Mendelian Inheritance in Man [MIM]: 619312) is a rare neurodevelopmental disorder with few reported cases and limited research. It has recently been reported that the clinical features of RTS overlap with those of 1p36 deletion syndrome (1p36DS), a common chromosomal deletion characterized by clinical and molecular heterogeneity. This study aims to report on a Korean patient with RTS and compare the clinical and molecular features with those of patients with 1p36DS. Methods: A 3-year-old boy was brought to the hospital and underwent whole genome sequencing to evaluate developmental delay and multiple anomalies. This led to the identification of a de novo truncating variant in SPEN. We retrospectively investigated cases of 1p36DS that were either newly diagnosed at our institution or previously reported in the literature and databases. Results: The clinical profile of RTS includes developmental delay/intellectual disability, hypotonia, feeding difficulties, congenital heart defects, and facial dysmorphisms. SPEN is frequently found within the deleted region associated with 1p36DS. However, in all reported Korean cases of 1p36DS, the deletions were distal and did not involve SPEN; despite this, the clinical features of the disorder overlap considerably with those of RTS. Conclusion SPEN is a newly identified gene that plays a role in various developmental processes. Therefore, it is essential to include SPEN in genetic testing when diagnosing patients suspected of having a neurodevelopmental disorder. Additional research is required to explore the molecular and clinical features, as well as the prognosis, of patients with either an isolated SPEN mutation or one that co-occurs with 1p36DS.

Purpose: Radio-Tartaglia syndrome (RTS; Mendelian Inheritance in Man [MIM]: 619312) is a rare neurodevelopmental disorder with few reported cases and limited research. It has recently been reported that the clinical features of RTS overlap with those of 1p36 deletion syndrome (1p36DS), a common chromosomal deletion characterized by clinical and molecular heterogeneity. This study aims to report on a Korean patient with RTS and compare the clinical and molecular features with those of patients with 1p36DS. Methods: A 3-year-old boy was brought to the hospital and underwent whole genome sequencing to evaluate developmental delay and multiple anomalies. This led to the identification of a de novo truncating variant in SPEN. We retrospectively investigated cases of 1p36DS that were either newly diagnosed at our institution or previously reported in the literature and databases. Results: The clinical profile of RTS includes developmental delay/intellectual disability, hypotonia, feeding difficulties, congenital heart defects, and facial dysmorphisms. SPEN is frequently found within the deleted region associated with 1p36DS. However, in all reported Korean cases of 1p36DS, the deletions were distal and did not involve SPEN; despite this, the clinical features of the disorder overlap considerably with those of RTS. Conclusion SPEN is a newly identified gene that plays a role in various developmental processes. Therefore, it is essential to include SPEN in genetic testing when diagnosing patients suspected of having a neurodevelopmental disorder. Additional research is required to explore the molecular and clinical features, as well as the prognosis, of patients with either an isolated SPEN mutation or one that co-occurs with 1p36DS.

Purpose: To investigate the clinical efficacy of rebamipide eyedrops in patients with meibomian gland dysfunction (MGD) associated with Sjögren’s syndrome. Methods: The study included 50 patients with Sjögren’s syndrome accompanied by MGD treated with 0.05% (w/v) cyclosporine and 0.15% (w/v) sodium hyaluronate eyedrops. They were divided into two groups: 25 who added rebamipide eyedrops to their existing treatments and a control group of 25 whose treatments did not change. We evaluated the tear breakup time, the Schirmer test and conjunctival staining scores, meibomian gland quality and function, and eyelid margin irregularity before prescribing rebamipide eyedrops and 1 and 3 months after prescription. Additionally, before eyedrops use and 3 months later, meibographic scores were assessed via imaging of the meibomian gland and ocular surface disease index values also were assessed. Results: The rebamipide group exhibited significant improvements in the tear breakup time, conjunctival staining score, and ocular surface disease index compared to before treatment (all p < 0.05). However, the Schirmer test result, meibomian gland quality and function, and eyelid margin irregularity did not differ between either groups before or after treatment. After 3 months of eyedrop use, the rebamipide group exhibited a significantly higher tear breakup time (p < 0.01) and Schirmer test score (p < 0.01) than the control group (p = 0.01), and significantly lower ocular surface disease index and conjunctival staining scores (p < 0.01). Conclusions Addition of rebamipide eyedrops to the conventional treatment of patients with Sjögren’s syndrome accompanied by MGD effectively improves dry eye symptoms and the ocular surface parameters.

Circulating tumor DNA (ctDNA) has emerged as a promising tool for various clinical applications, including early diagnosis, therapeutic target identification, treatment response monitoring, prognosis evaluation, and minimal residual disease detection. Consequently, ctDNA assays have been incorporated into clinical practice. In this review, we offer an indepth exploration of the clinical implementation of ctDNA assays. Notably, we examined existing evidence related to pre-analytical procedures, analytical components in current technologies, and result interpretation and reporting processes. The primary objective of this guidelines is to provide recommendations for the clinical utilization of ctDNA assays.

Background: The emergence of tigecycline-resistant Acinetobacter baumannii has been reported, and the need for tigecycline susceptibility testing in this strain is increasing. However, neither the Clinical & Laboratory Standards Institute, nor the European Commission on Antimicrobial Susceptibility Testing have provided definitive criteria for tigecycline susceptibility testing of A. baumannii. In this study, the disk diffusion method and the minimal inhibitory concentration (MIC) method were com pared to verify conventionally used Food and Drug Administration-identified interpretive criteria to detect tigecycline resistance of A. baumannii. Methods: Forty-four strains of A. baumannii with tigecycline resistance were collected through the Kor-GLASS (Korean Global Antimicrobial Resistance Surveillance System) study in 2022 using the disk diffusion test (DDT). This strain was retested with the MIC method using a Sensititre Gram Negative GN6F AST plate (Thermo Fisher Scientific, USA) to confirm tigecycline resistance. The confirmed strain was subjected to whole genome analysis to elucidate the tigecycline resistance mechanism. Results: Only one of the 44 isolates identified as resistant to tigecycline by the DDT showed resistance with the MIC method, thus the concordance rate of the two methods was 2.3% (1/44). Sequence type 195 strain, carrying bla OXA23 was identified. This strain had no resistance genes of the tetracycline family but had resistance genes to other antimicrobial families. Conclusions Discrepancy of the tigecycline susceptibility test of A. baumannii was identified. To detect tigecycline resistance of A. baumannii, more reliable methods are required.