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.

Cutaneous dermatophyte infections, dermatophytosis, are common worldwide, affecting various age groups and body parts. Despite advancements in antifungal therapies, the prevalence of dermatophytosis continues to increase, posing significant challenges for diagnosis and treatment. This review provides an overview of the prevalence, clinical features, and diagnostic methods for dermatophytosis in Korea. A comprehensive review of domestic reports and research on dermatophytosis in Korea was conducted using data from KoreaMed.This study covers the various clinical presentations, age distributions, seasonal trends, and types of dermatophytes identified in different body areas. Dermatophytosis in Korea have shown changing patterns in terms of prevalence and causative species. Trichophyton rubrum remains the most common causative organism, with varying presentations depending on the site of infection, such as tinea pedis, tinea corporis, tinea capitis, tinea faciei, and onychomycosis. Diagnostic practices largely depend on the potassium hydroxide smear test, which has limited sensitivity, particularly for onychomycosis. Recent trends indicate an increase in the incidence of dermatophytosis among older adults, which may be linked to underlying health conditions and lifestyle changes. Dermatophytosis in Korea exhibit diverse clinical manifestations influenced by factors such as patient age, body site, and seasonal variation. Improved diagnostic methods are needed to enhance the accuracy and guide appropriate treatment, especially with the emergence of antifungal-resistant strains. This review aims to provide a better understanding of the current state of dermatophytosis in Korea and contribute to more effective management and prevention strategies.

Purpose: Surgical resection is the primary curative treatment for gastrointestinal (GI) cancer; however, it is associated with high postoperative complication rates and impaired recovery. Frailty, malnutrition, and sarcopenia increase morbidity and mortality, underscoring the need for perioperative rehabilitation programs. Standardized rehabilitation protocols during the perioperative period are currently lacking in Korea. We aimed to develop an evidence-based rehabilitation protocol for GI cancer patients to enhance postoperative outcomes and facilitate clinical implementation. Methods: A multidisciplinary task force team comprising experts in surgery, clinical nutrition, and rehabilitation medicine conducted a systematic literature search and comprehensive review from 2012 to 2022 to develop a standardized pre- and re-habilitation protocol for GI cancer surgery. The protocol underwent external validation and subsequent refinements before being finalized through expert consensus. Results: The protocol development process was organized into four consecutive phases: keyword selection, literature review and case report form development, initial protocol drafting, and external validation leading to the final version of the protocol. The final version of the rehabilitation protocol is presented in the main text and included as Supplements. Conclusion This protocol provides a standardized clinical guideline based on the latest evidence-based pre- and re-habilitation strategies and is designed for seamless integration into routine clinical practice. By facilitating proactive rehabilitation interventions, it aims to improve outcomes in GI cancer patients who are at high risk of postoperative complications, functional decline, and malnutrition.

Purpose: The long-term outcomes and efficacy of partial stapled hemorrhoidopexy (PSH) compared with those of conventional hemorrhoidectomy (CH) are not fully understood. This study aimed to introduce a modified PSH (mPSH) and compare its clinical efficacy and safety with those of CH. Methods: A prospective randomized controlled trial was conducted. This study was performed at a single hospital and involved 6 colorectal surgeons. In total, 110 patients were enrolled between July 2019 and September 2020. Patients were randomly assigned to undergo either mPSH group (n=55) or CH group (n=55). The primary outcome was to compare postoperative average pain and postoperative peak pain using visual analog scale score between the 2 groups. Results: The required duration of analgesia was shorter in the mPSH group than in the CH group, although the difference was not statistically significant (P=0.096). However, the laxative requirement duration (P<0.010), return to work (P<0.010), satisfaction score (P<0.010), and Vaizey score (P=0.014) were significantly better in the mPSH group. The average and peak postoperative pain scores were significantly lower in the mPSH group during the 15 days after surgery (P<0.001). The overall complication rate in both groups was 9.1%, with no significant difference between the groups (P=0.867). Conclusion The mPSH group demonstrated better improvement in symptoms, lower pain scores, and greater patient early satisfaction after surgery than the CH group. Therefore, this surgical technique appears to be a safe and effective alternative for CH.

Background: In vitro and animal studies have demonstrated that bone morphogenetic protein-7 (BMP-7), renowned for its osteogenic properties, also exerts beneficial effects on muscle metabolism by enhancing myogenesis and reversing muscle atrophy. Despite being proposed as a common regulatory factor for both muscle and bone, the impact of BMP-7 on human muscle health has not been thoroughly investigated. Methods: This cross-sectional study involved 182 community-dwelling older adults who underwent a comprehensive geriatric assessment in South Korea. Sarcopenia was diagnosed using Asian-specific cutoffs, and serum BMP-7 levels were quantified via enzyme immunoassay. Results: The mean age of the participants was 72.2±7.3 years, with 62.6% being female. After adjustments for confounders, serum BMP-7 levels were not significantly different between individuals with and without sarcopenia, nor were there differences based on skeletal muscle mass, strength, or physical performance levels (p=0.423 to 0.681). Likewise, no correlations were detected between circulating BMP-7 levels and any sarcopenia assessment metrics such as skeletal muscle index, grip strength, gait speed, or chair stand completion times (p=0.127 to 0.577). No significant associations were observed between increases in serum BMP-7 concentrations and the risk of sarcopenia or poor muscle phenotypes (p=0.431 to 0.712). Stratifying participants into quartiles based on serum BMP-7 levels also indicated no differences in sarcopenia-related parameters (p=0.663 to 0.996). Conclusion Despite experimental evidence supporting BMP-7’s role in muscle metabolism, this study found no significant association between serum BMP-7 levels and clinical indicators of muscle health in older adults. These findings challenge the utility of serum BMP-7 as a biomarker for sarcopenia in this demographic.

Background: The recent published Korean Working Group on Sarcopenia (KWGS) guideline includes the concept of functional sarcopenia. The study investigated the prevalence of sarcopenia and its association with health-related adverse outcomes defined by the KWGS in community-dwelling older adults. Methods: Data were sourced from the Korean Longitudinal Study on Health and Aging, focusing on Koreans 65 aged and above. The definitions of sarcopenia and functional sarcopenia followed the KWGS. The risks of falls, mobility limitation, and death were analyzed using logistic regression and Cox proportional hazard. Results: Of the 594 participants, 145 (24.4%) were classified as having functional sarcopenia and 129 (12.0%) with sarcopenia. Both showed an increased prevalence with age. Functional sarcopenia had higher risks of mobility limitation (odds ratio [OR]=3.461; 95% confidence interval [CI], 1.956–6.121) and mortality (hazard ratio [HR]=1.775; 95% CI, 1.229–2.564). Sarcopenia was associated with falls (OR=7.376; 95% CI, 1.500–36.272), mobility limitation (OR=2.057; 95% CI, 1.172–3.611) and mortality (HR=1.512; 95% CI, 1.054–2.169). Conclusion Functional sarcopenia is a prevalent condition that is associated with mobility limitation and mortality in community-dwelling older adults. This highlights the clinical relevance of functional sarcopenia and supports its inclusion in sarcopenia diagnosis.

Background: s/Aims: Liver transplantation (LT) is now a critical, life-saving treatment for patients with liver cirrhosis or hepatocellular carcinoma. Despite its significant benefits, biliary complications (BCs) continue to be a major cause of postoperative morbidity.This study evaluates the fluorescence intensity (FI) of the common bile duct (CBD) utilizing near-infrared indocyanine green (ICG) imaging, and examines its association with the incidence of BCs within three months post-LT. Methods: This investigation analyzed data from nine living donor LT (LDLT) recipients who were administered 0.05 mg/kg of ICG prior to bile duct anastomosis. Real-time perfusion of the CBD was recorded for three minutes using an ICG camera, and FI was quantified using Image J (National Institutes of Health). Key parameters assessed included F max, F1/2 max, T1/2 max, and the slope (F max/ T max) to evaluate the fluorescence response. Results: BCs occurred in two out of nine patients. These two patients exhibited the longest T1/2 max values, which were linked with lower slope values, implicating a potential relationship between extended T1/2 max, reduced slope, and the occurrence of postoperative BCs. Conclusions The study indicates that ICG fluorescence imaging may serve as an effective tool for assessing bile duct perfusion in LDLT patients. While the data suggest that an extended T1/2 max and lower slope may correlate with an increased risk of BCs, further validation through larger studies is required to confirm the predictive value of ICG fluorescence imaging in this setting.

Purpose: There are limited data regarding changes in glucose control in pediatric patients with type 1 diabetes (T1D) affected by coronavirus disease 2019 (COVID-19). This study aimed to evaluate changes in the metrics of a continuous glucose monitoring (CGM) system during COVID-19 infection in children and adolescents with T1D. Methods: Eighteen patients with T1D (<18 years of age) were included in this retrospective study. The effects of COVID-19 on CGM metrics were assessed at 5 time points (2 weeks before COVID-19 [time 1], 1 week before COVID-19 [time 2], during COVID-19 [time 3], 1 week after COVID-19 [time 4], and 2 weeks after COVID-19 [time 5]). Results: All participants had at least 1 symptom of COVID-19 and did not need to be hospitalized. The glucose management indicator (GMI) was higher at time 3 (7.7%±1.4%) compared to time 1 (7.1%±1.1%; P=0.016) and time 5 (7.0%±1.2%; P=0.008). According to the insulin delivery method, the GMI at time 3 was significantly higher than that at time 5 in patients treated with multiple daily injections (MDI) (median and interquartile range, 8.0% [6.1%–8.5%] vs. 7.1% [5.8%–7.9%]; P=0.020) but not in those treated with continuous subcutaneous insulin infusion (CSII). Conclusion Pediatric patients with T1D and mild COVID-19 showed worsening glycemic control during COVID-19 infection, but it returned to preinfection levels within 2 weeks of infection. CSII is more effective in maintaining stable glycemic control during COVID-19 infection than is MDI therapy.

Purpose: Postoperative adhesions following thyroid surgery can lead to multiple complications that significantly impact quality of life. The use of an acellular dermal matrix (ADM) adhesion barrier device has been proposed as a potential solution to reduce the risk of such adhesions. This study aimed to evaluate the safety and anti-adhesive effect of an ADM in patients undergoing thyroid surgery. Methods: In this multicenter randomized controlled trial, patients undergoing thyroid surgery were randomly assigned to receive either ADM (n = 42) or no ADM (n = 39) during surgery. The primary outcome was the Swallowing Impairment Score (SIS-6), measured 6 weeks after surgery and compared between groups. Secondary outcomes included intergroup comparisons of the SIS-6, the Voice Handicap Index (VHI)-10, and the Glasgow-Edinburgh Throat Scale (GETS) at baseline, and 2, 6, and 18 weeks after surgery. Results: At week 6, the mean SIS-6 scores were 4.0 ± 4.1 and 3.3 ± 4.2 in the ADM and control groups, respectively, which was not significantly different. Both groups showed similar postoperative improvements in SIS-6, VHI-10, and GETS scores over time, without significant differences between groups at any time point, indicating that the ADM did not reduce the incidence of postoperative adhesions or alter the course of recovery compared to the control group. Conclusion Although application of the ADM is safe for use in patients undergoing thyroid surgery, it did not produce a clinically significant advantage in preventing postoperative adhesions. Future research should focus on identifying specific patient populations or surgical scenarios where the use of the ADM may be beneficial.

Purpose: The study aimed to evaluate the characteristics and operative-related factors in children who underwent fundoplication, analyze surgical outcomes categorized by disease entity and surgical indication, and identify prognostic factors for reoperation risk. Methods: A total of 109 pediatric patients who underwent fundoplication between 2008 and 2022 were retrospectively analyzed. Patients were grouped by disease entity and surgical indication. Underlying diseases, comorbidities, sex, gestational age, birth weight, preoperative symptoms, and operation-related factors were examined. Outcomes were classified as short-term and long-term adverse events. We investigated differences in clinical outcomes according to disease entity and surgical indication. Then we statistically identified preoperative predictors for the risk of reoperation. Results: The most common disease entity was neurological impairment (n = 92). Pulmonary comorbidity (42.2%) and aspiration/regurgitation (87.2%) were the most common. Most surgeries were performed laparoscopically (86.2%). There were 12 short-term and 25 long-term adverse events, with long-term events occurred more frequently in the neurological impairment (NIP) group compared to the non-NIP group (P = 0.04). None of the factors showed a significant relationship with the risk of reoperation. Conclusion Neurologically impaired children were more likely to experience long-term adverse events postfundoplication. However, no significant predictors for reoperation risk were identified.