Purpose: Telemedicine is advantageous in providing medical care to patients with mobility difficulties. This single-center study aimed to report on the provision of video televisits to people living with amyotrophic lateral sclerosis (pALS, ALS) who were registered with a home-based medical care (HBMC) team in a tertiary hospital in South Korea. Materials and Methods: A retrospective cross-sectional study was conducted for pALS provided with video televisits by the HBMC team between July 2020 and February 2023. The patients’ demographics, disease status, mobility level, and supportive care equipment were investigated. The main issues discussed at televisits were investigated. Results: During the 32-month study period, video televisits were provided to 69 (81.2%) of the 85 pALS registered with the HBMC team. Their median (interquartile range) age was 66 (57–71) years, and 66.7% were aged 60 years or older. At the time of the televisits, 71.0% were non-ambulatory and 27.5% were at an assisted ambulatory level. Furthermore, 82.6% were receiving nutritional support with a nasogastric or gastrostomy tube, and 78.3% had received either non-invasive positive pressure ventilation (43.5%) or tracheostomy invasive ventilation (34.8%). Common issues addressed on televisits were disease-related symptoms (100%), management of supportive care equipment (92.8%), acute health issues (52.2%), and advance care planning (ACP) including goal of care discussion (14.5%). Conclusion Video telemedicine is feasible for pALS, including older adults with limited mobility due to muscle weakness or reliance on various supportive care equipment. Video televisits allow for a variety of discussions, ranging from acute health issues to ACP.

This review provides a comprehensive framework for the diagnostic approach and management of Huntington’s disease (HD) tailored to the Korean population. Key topics include genetic counseling, predictive testing, and reproductive options like preimplantation genetic testing. Strategies for assessing disease progression in premanifest HD through laboratory investigations, biofluid, and imaging biomarkers are highlighted. Special considerations for juvenile and late-onset HD, along with associated comorbidities like diabetes mellitus, hypertension, and cardiovascular abnormalities, are discussed. The guide emphasizes personalized symptom management, including pharmacotherapy, physical therapy, and nutritional support, while exploring emerging disease-modifying treatments. A multidisciplinary care model is advocated to improve outcomes for HD patients and caregivers in Korea.

Irritable bowel syndrome (IBS) is a chronic, disabling, and functional bowel disorder that significantly affects social functioning and reduces quality of life and increases social costs. The Korean Society of Neurogastroenterology and Motility published clinical practice guidelines on the management of IBS based on a systematic review of the literature in 2017, and planned to revise these guidelines in light of new evidence on the pathophysiology, diagnosis, and management of IBS. The current revised version of the guidelines is consistent with the previous version and targets adults diagnosed with or suspected of having IBS. These guidelines were developed using a combination of de novo and adaptation methods, with analyses of existing guidelines and discussions within the committee, leading to the identification of key clinical questions. Finally, the guidelines consisted of 22 recommendations, including 3 concerning the definition and risk factors of IBS, 4 regarding diagnostic modalities and strategies, 2 regarding general management, and 13 regarding medical treatment. For each statement, the advantages, disadvantages, and precautions were thoroughly detailed. The modified Delphi method was used to achieve expert consensus to adopt the core recommendations of the guidelines. These guidelines serve as a reference for clinicians (including primary care physicians, general healthcare providers, medical students, residents, and other healthcare professionals) and patients, helping them to make informed decisions regarding IBS management.

Background and Objectives: SH3 and multiple ankyrin repeat domains 3 (Shank3) proteins play crucial roles as neuronal postsynaptic scaffolds. Alongside neuropsychiatric symptoms, individuals with SHANK3 mutations often exhibit symptoms related to dysfunctions in other organs, including the heart. However, detailed insights into the cardiac functions of Shank3 remain limited. This study aimed to characterize the cardiac phenotypes of Shank3-overexpressing transgenic mice and explore the underlying mechanisms. Methods: Cardiac histological analysis, electrocardiogram and echocardiogram recordings were conducted on Shank3-overexpressing transgenic mice. Electrophysiological properties, including action potentials and L-type Ca2+ channel (LTCC) currents, were measured in isolated cardiomyocytes. Ca2+ homeostasis was assessed by analyzing cytosolic Ca2+transients and sarcoplasmic reticulum Ca2+ contents. Depolarization-induced cell shortening was examined in cardiomyocytes. Immunoprecipitation followed by mass spectrometrybased identification was employed to identify proteins in the cardiac Shank3 interactome.Western blot and immunocytochemical analyses were conducted to identify changes in protein expression in Shank3-overexpressing transgenic cardiomyocytes. Results: The hearts of Shank3-overexpressing transgenic mice displayed reduced weight and increased fibrosis. In vivo, sudden cardiac death, arrhythmia, and contractility impairments were identified. Shank3-overexpressing transgenic cardiomyocytes showed prolonged action potential duration and increased LTCC current density. Cytosolic Ca2+ transients were increased with prolonged decay time, while sarcoplasmic reticulum Ca2+ contents remained normal. Cell shortening was augmented in Shank3-overexpressing transgenic cardiomyocytes. The cardiac Shank3 interactome comprised 78 proteins with various functions. Troponin I levels were down-regulated in Shank3-overexpressing transgenic cardiomyocytes. Conclusions This study revealed cardiac dysfunction in Shank3-overexpressing transgenic mice, potentially attributed to changes in Ca2+ homeostasis and contraction, with a notable reduction in troponin I.

Background: The prognosis of end-of-life patients is challenging, and clinicians have attempted to predict survival more accurately. High serum creatinine (sCr) levels are associated with lower survival rates in patients with various cancers; however, low sCr levels are commonly expected in patients with terminal cancer because of muscle wasting and malnutrition. Therefore, we investigated the prevalence of low and high sCr levels and their association with survival duration in patients with terminal cancer in a palliative care unit. Methods: We analyzed the medical records of 280 patients admitted to a palliative care unit. Patients were divided into low (<0.5 mg/dL), normal (0.5–1.2 mg/dL), and high (>1.2 mg/dL) sCr groups. Kaplan-Meier survival curves using sCr levels were plotted and compared using the log-rank test. Using stepwise selection, a multivariable Cox proportional hazards model was used to identify the significant prognostic factors. Results: The median survival durations in the high-, low-, and normal-sCr groups were 9.57 days, 22.26 days, and 27.51 days, respectively. Multivariable Cox proportional hazard model identified that males (hazard ratio [HR], 1.81; 95% confidence interval [CI], 1.16–2.85), poor performance status (HR, 3.43; 95% CI, 1.12–10.54), total parenteral nutrition use (HR, 1.84; 95% CI, 1.09–3.1), high sCr (HR, 2.74; 95% CI, 1.52–4.94), and low sCr (HR, 1.22; 95% CI, 1.07–1.43) were significantly associated with a shorter survival time. Conclusion Low and high serum creatinine levels were significantly associated with poor survival in patients with cancer at the end-of-life stage. Therefore, readily available and simple biomarkers may help plan advanced care in palliative care settings.

Incidentally detected gallbladder polyps (GBPs) and gallbladder wall thickening (GBWT) are frequently encountered in clinical practice. However, characterizing GBPs and GBWT in asymptomatic patients can be challenging and may result in overtreatment, including unnecessary follow-ups or surgeries. The Korean Society of Abdominal Radiology (KSAR) Clinical Practice Guideline Committee has developed expert recommendations that focus on standardized imaging interpretation and follow-up strategies for both GBPs and GBWT, with support from the Korean Society of Radiology and KSAR. These guidelines, which address 24 key questions, aim to standardize the approach for the interpretation of imaging findings, reporting, imaging-based workups, and surveillance of incidentally detected GBPs and GBWT. This recommendation promotes evidence-based practice, facilitates communication between radiologists and referring physicians, and reduces unnecessary interventions.

Objective: This study evaluated the effect of an accelerated three-dimensional (3D) T1-weighted pediatric brain MRI protocol using a deep learning (DL)-based reconstruction algorithm on scan time and image quality. Materials and Methods: This retrospective study included 46 pediatric patients who underwent conventional and accelerated, pre- and post-contrast, 3D T1-weighted brain MRI using a 3T scanner (SIGNA Premier; GE HealthCare) at a single tertiary referral center between March 1, 2023, and April 30, 2023. Conventional scans were reconstructed using intensity Filter A (Conv), whereas accelerated scans were reconstructed using intensity Filter A (Fast_A) and a DL-based algorithm (Fast_DL).Image quality was assessed quantitatively based on the coefficient of variation, relative contrast, apparent signal-to-noise ratio (aSNR), and apparent contrast-to-noise ratio (aCNR) and qualitatively according to radiologists’ ratings of overall image quality, artifacts, noisiness, gray-white matter differentiation, and lesion conspicuity. Results: The acquisition times for the pre- and post-contrast scans were 191 and 135 seconds, respectively, for the conventional scan. With the accelerated protocol, these were reduced to 135 and 80 seconds, achieving time reductions of 29.3% and 40.7%, respectively. DL-based reconstruction significantly reduced the coefficient of variation, improved the aSNR, aCNR, and overall image quality, and reduced the number of artifacts compared with the conventional acquisition method (all P < 0.05). However, the lesion conspicuity remained similar between the two protocols. Conclusion Utilizing a DL-based reconstruction algorithm in accelerated 3D T1-weighted pediatric brain MRI can significantly shorten the acquisition time, enhance image quality, and reduce artifacts, making it a viable option for pediatric imaging.

Objective: To prospectively evaluate the effect of accelerated deep learning-based reconstruction (Accel-DL) on improving brain magnetic resonance imaging (MRI) quality and reducing scan time compared to that in conventional MRI. Materials and Methods: This study included 150 participants (51 male; mean age 57.3 ± 16.2 years). Each group of 50 participants was scanned using one of three 3T scanners from three different vendors. Conventional and Accel-DL MRI images were obtained from each participant and compared using 2D T1- and T2-weighted and 3D gradient-echo sequences. Accel-DL acquisition was achieved using optimized scan parameters to reduce the scan time, with the acquired images reconstructed using U-Net-based software to transform low-quality, undersampled k-space data into high-quality images. The scan times of Accel-DL and conventional MRI methods were compared. Four neuroradiologists assessed the overall image quality, structural delineation, and artifacts using Likert scale (5- and 3-point scales). Inter-reader agreement was assessed using Fleiss’ kappa coefficient. Signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) were calculated, and volumetric quantification of regional structures and white matter hyperintensities (WMHs) was performed. Results: Accel-DL showed a mean scan time reduction of 39.4% (range, 24.2%–51.3%). Accel-DL improved overall image quality (3.78 ± 0.71 vs. 3.36 ± 0.61, P < 0.001), structure delineation (2.47 ± 0.61 vs. 2.35 ± 0.62, P < 0.001), and artifacts (3.73 ± 0.72 vs. 3.71 ± 0.69, P = 0.016). Inter-reader agreement was fair to substantial (κ = 0.34–0.50). SNR and CNR increased in Accel-DL (82.0 ± 23.1 vs. 31.4 ± 10.8, P = 0.02; 12.4 ± 4.1 vs. 4.4 ± 11.2, P = 0.02). Bland-Altman plots revealed no significant differences in the volumetric measurements of 98.2% of the relevant regions, except in the deep gray matter, including the thalamus. Five of the six lesion categories showed no significant differences in WMH segmentation, except for leukocortical lesions (r = 0.64 ± 0.29). Conclusion Accel-DL substantially reduced the scan time and improved the quality of brain MRI in both spin-echo and gradientecho sequences without compromising volumetry, including lesion quantification.

Purpose: This study aimed to characterize the clinical patterns and severity of brain injury in neonates who survived extracorporeal membrane oxygenation (ECMO) therapy for acute respiratory failure during the neonatal period, to evaluate their short-term neurodevelopmental outcomes, and to identify the factors associated with these outcomes. Methods: We retrospectively reviewed the medical records of neonates who survived ECMO between 2018 and 2024. Based on brain magnetic resonance imaging (MRI) findings, the patients were classified into two groups: no/mild and moderate/severe brain injury. Neurodevelopmental outcomes were assessed at 12–40 months of age using the Bayley Scale of Infant Development II/III and/or the Korean Developmental Screening Test. Results: Among the 19 neonates included in the study, 18 (94.7%) showed varying degrees of brain injury on MRI (mild: 12, moderate: 1, severe: 5). Neonates with moderate/severe brain injury had significantly longer durations of ECMO support and extended durations of mechanical ventilation and were more likely to receive continuous renal replacement therapy than those with no or mild injury. Developmental delay was identified in 36.8% of survivors and was significantly associated with prolonged mechanical ventilation, longer neonatal intensive care unit stays, and a higher incidence of seizures. Conclusion Brain injury is frequently observed on MRI in neonates treated with ECMO. However, its direct association with adverse neurodevelopmental outcomes is not definitive. Since MRI findings alone cannot predict developmental outcomes, clinical and environmental factors should be integrated into prognostic assessments.