Background: Despite efforts by the National Education on Sleeping Environment to reduce sudden infant death syndrome (SIDS), it remains the leading cause of post-neonatal mortality. In Korea, the incidence of SIDS was estimated at 0.4 per 1,000 infants in 2022. Mutations in the ryanodine receptor 2 ( RYR2) gene, known to be associated with catecholaminergic polymorphic ventricular tachycardia, have been implicated in cases of sudden death. However, genetic studies investigating the link between RYR2 mutations and SIDS have not been conducted in Korea. Methods: We extracted DNA from archived formalin-fixed, paraffin-embedded myocardial tissues from 249 SIDS cases autopsied between 2005 and 2017. DNA analysis focused on sequencing key exons (3, 8, 14, 15, 37, 42, 44–47, 49, 50, 83, 87–91, 93–95, 97, 99, and 100–105) of the RYR2 gene, critical for its functional role. Results: Among the 249 SIDS cases, 62% were male infants, with an average age of 124 days, all of Asian-Korean descent. We identified two previously unreported RYR2 variants in two Korean patients with SIDS, namely c.13175A>G (p.Lys4392Arg) and c.4652A>G (p.Asn1551Ser). Conclusion Our study identified two RYR2 variants (c.13175A>G/p.Lys4392Arg and c.4652A>G/p.Asn1551Ser) associated with SIDS through postmortem genetic analysis.Given the limited diagnostic yield, our findings underscore the importance of selectively performing molecular autopsies in cases with documented familial clinical history. This approach aims to enhance the quality of genetic counseling available to affected families.

Background: Patients with diabetic hindfoot ulcers typically harbor significant concerns regarding their prospects for healing or the potential for major amputation. Nonetheless, a scarcity of data addressing this prevalent and critical query exists. Thus, the aim of this study was to create an initial risk-scoring system to forecast the prognosis of individuals with diabetic hindfoot ulcers, leveraging assessments of ischemia and infection severity, which are recognized as the principal risk factors for amputation. Methods: Ischemia severity was categorized as iS0, iS1, or iS2 based on transcutaneous partial oxygen tension values, while infection severity was classified as iN0, iN1, or iN2 according to the results of tissue and bone biopsy cultures. Risk scores were determined by summing the scores for ischemia and infection severity, yielding a range of 0 to 4. Wound healing outcomes were graded as either healed with or without major amputation. Wound healing outcomes were assessed based on the assigned risk scores. Results: With ascending risk scores, the proportion of patients subjected to major amputation also increased (P value for trend < 0.001). Univariable logistic regression analysis revealed a significant positive correlation between escalating risk scores and major amputation incidence. Patients with a risk score of 4 exhibited a 41-fold higher likelihood of undergoing major amputation compared to those with a risk score of 0. Conclusion Risk scores can serve as a reliable predictor of the major amputation rate in patients with diabetic hindfoot ulcers.

The femoral artery is the preferred access route for neurointerventions. The transfemoral approach (TFA) offers advantages such as a large diameter and easy access. However, it also entails disadvantages such as patient discomfort and high risk of complications. Following the initial report of coronary angiography using the transradial approach (TRA) in 1989, cardiologists discovered the advantages of TRA over the TFA and gradually replaced it with the TRA. In 1997, Matsumoto et al. used the TRA for cerebral angiography and neurointervention. Thereafter, the adoption of TRA for neurointervention gradually increased and good outcomes were reported. However, despite these developments, the adoption rate of TRA is relatively low. We reviewed the relevant studies to increase the accessibility of TRA for neurointerventionists.

Parkinson’s disease (PD) is the second most prevalent neurodegenerative disorder and is characterized by progressive dopaminergic and nondopaminergic neuronal loss and the presence of Lewy bodies, which are primarily composed of aggregated α-synuclein. Despite advancements in symptomatic therapies, such as dopamine replacement and deep brain stimulation, no disease-modifying therapies (DMTs) have been identified to slow or arrest neurodegeneration in patients with PD. Challenges in DMT development include disease heterogeneity, the absence of reliable biomarkers, and the multifaceted pathophysiology of PD, encompassing neuroinflammation, mitochondrial dysfunction, lysosomal impairment, and oxidative stress. Drug repositioning and repurposing strategies using existing drugs for new therapeutic applications offer promising approaches to accelerate the development of DMTs for PD. These strategies minimize time, cost, and risk by using compounds with established safety profiles. Prominent candidates include glucagon-like peptide-1 receptor agonists, dipeptidyl peptidase-4 inhibitors, ambroxol, calcium channel blockers, statins, iron-chelating agents, c-Abl inhibitors, and memantine. Although preclinical and early clinical studies have demonstrated encouraging results, numerous phase III trials have yielded unfavorable outcomes, elucidating the complexity of PD pathophysiology and the need for innovative trial designs. This review evaluates the potential of prioritized repurposed drugs for PD, focusing on their mechanisms, preclinical evidence, and clinical trial outcomes, and highlights the ongoing challenges and opportunities in this field.

Background: and Purpose Previous research on patients with acute ischemic stroke (AIS) has shown a 0.5% incidence of major gastrointestinal bleeding (GIB) requiring blood transfusion during hospitalization. The existing literature has insufficiently explored the long-term incidence in this population despite the decremental impact of GIB on stroke outcomes. Methods: We analyzed the data from a cohort of patients with AIS admitted to 14 hospitals as part of a nationwide multicenter prospective stroke registry between 2011 and 2013. These patients were followed up for up to 6 years. The occurrence of major GIB events, defined as GIB necessitating at least two units of blood transfusion, was tracked using the National Health Insurance Service claims data. Results: Among 10,818 patients with AIS (male, 59%; mean age, 68±13 years), 947 (8.8%) experienced 1,224 episodes of major GIB over a median follow-up duration of 3.1 years. Remarkably, 20% of 947 patients experienced multiple episodes of major GIB. The incidence peaked in the first month after AIS, reaching 19.2 per 100 person-years, and gradually decreased to approximately one-sixth of this rate by the 2nd year with subsequent stabilization. Multivariable analysis identified the following predictors of major GIB: anemia, estimated glomerular filtration rate <60 mL/min/1.73 m2 , and a 3-month modified Rankin Scale score of ≥4. Conclusion Patients with AIS are susceptible to major GIB, particularly in the first month after the onset of AIS, with the risk decreasing thereafter. Implementing preventive strategies may be important, especially for patients with anemia and impaired renal function at stroke onset and those with a disabling stroke.

Purpose: Although upper eyelid retraction is commonly associated with thyroid eye disease, its etiology remains unclear. This study evaluated the clinical features and treatment outcomes of patients with upper eyelid retraction caused by idiopathic orbital myositis (IOM). Methods: We conducted a retrospective analysis of the medical records of patients who presented with unilateral upper eyelid retraction. IOM was diagnosed based on normal thyroid function tests (TFT), including thyroid-stimulating immunoglobulin (TSI). Orbital imaging demonstrated contrast-enhanced enlargement of the superior rectus-levator palpebrae superioris complex (SR-LC). Pre- and post-systemic steroid treatment, margin-reflex distance 1 (MRD1), MRD1 difference between affected and unaffected eyes, exophthalmos, and diplopia were assessed. Results: In total, five patients (male: 4, female: 1) with a median age of 36.4 years were diagnosed with IOM. Three patients presented with diplopia on upgaze and supraduction limitation. Orbital imaging revealed levator palpebrae superioris muscle enlargement with distinct borders and homogeneous contrast enhancement. All cases with superior rectus enlargement demonstrated tendon involvement. The median duration from symptom onset to treatment initiation was 2.2 months. Four patients received oral prednisolone, whereas one received intravenous methylprednisolone. Although no significant improvements were observed in MRD1, MRD1 difference, or exophthalmos post-treatment, diplopia resolved in all three patients. Conclusions IOM can present with upper eyelid retraction, emphasizing the importance of differentiating it from thyroid eye disease. TFT, including TSIs, and orbital imaging are essential diagnostic tools. These findings indicate that systemic corticosteroids can effectively manage diplopia associated with IOM, emphasizing the potential benefit of early and aggressive treatment.

Background: Patients with severe hindfoot Charcot neuroarthropathy may experience various complications following tibiotalocalcaneal arthrodesis. Therefore, it is crucial to establish appropriate treatment plans to prevent potential complications and predict prognosis before surgery. This study aimed to investigate the impact of the degree of preoperative deformity in hindfoot Charcot neuroarthropathy on the outcomes of tibiotalocalcaneal arthrodesis. Methods: Twenty patients who underwent tibiotalocalcaneal arthrodesis for hindfoot Charcot neuroarthropathy were grouped by the severity of their deformities into a mild deformity group (tibiotalar angle between 80° and 100° with minimal or no talar osteolysis) and a severe deformity group (tibiotalar angle < 80° or > 100°, or severe talar osteolysis precluding tibiotalocalcaneal arthrodesis and necessitating tibiocalcaneal arthrodesis). Their demographics, comorbidities, and various surgical outcomes were compared between the 2 groups. Additional analyses were conducted to determine the factors associated with poor clinical outcome, defined as the inability to achieve independent ambulation or the need for below-knee amputation. Results: There were no significant differences in demographics and comorbidities between the 2 groups. Postoperative clinical outcomes, including the rate of postoperative infection and poor clinical outcome (inability to walk independently or having undergone below-knee amputation), showed no significant differences between the 2 groups. In terms of radiological outcomes, the bony union rates were 66.7% in the mild deformity group and 54.5% in the severe deformity group, with no significant difference.Similarly, other radiological outcomes, such as postoperative malalignment and time to union, did not vary significantly between the 2 groups. Factors associated with poor clinical outcome were the presence of preoperative infected wound and postoperative infection. Conclusions The severity of preoperative coronal deformity or talar osteolysis was not associated with clinical or radiological outcomes of tibiotalocalcaneal arthrodesis for hindfoot Charcot neuroarthropathy. However, preoperative infected wound and postoperative infection were associated with poor clinical outcomes. Therefore, instead of early amputation in cases of severe coronal deformity or insufficient talar bone stock, limb salvage with tibiotalocalcaneal arthrodesis may be a viable alternative, with particular attention to patients with preoperative infected wound and postoperative infection.

Background: Long-term use of bisphosphonate is a risk factor for atypical femoral fractures (AFFs). Femoral bowing is known to be associated with AFFs. However, whether femoral bowing quickens the occurrence of AFF is unknown. The purpose of this study was to determine whether AFF occurs earlier in patients with severe femoral bowing than in those without severe bowing. Methods: One hundred and sixty-four patients (186 AFFs) from January 2006 to December 2022 were included in this study.According to severity of femoral bowing, patients were divided into 2 groups: severe bowing group (26 femurs) and minimal to moderate bowing group (160 femurs). Age, sex, and completeness and location of AFF were compared between the 2 groups. We compared the time of AFF occurrence after bisphosphonate therapy using cumulative percentage between the 2 groups. Results: Age and sex were similar between the 2 groups, while body mass index (BMI) was lower (22.5 ± 3.0 kg/m 2 vs. 24.5 ± 3.5 kg/m 2 , p = 0.003) in the severe bowing group. The duration of bisphosphonate use was shorter in the severe bowing group than in the minimal to moderate bowing group (3.3 ± 3.8 years vs. 5.0 ± 4.0 years, p = 0.048). In the severe bowing group, 85% of AFFs were diaphyseal in contrast to the 46% in the minimal to moderate bowing group (p < 0.001). Cumulative percentage plot of AFFs in the severe bowing group was left-shifted compared to the minimal to moderate bowing group. Conclusions At the time of AFF diagnosis, the severe bowing group exhibited shorter duration of bisphosphonate use, lower BMI, and a higher incidence of diaphyseal location. Shortening the duration of bisphosphonate therapy may be advisable in patients with severe femoral bowing.

Background: and Purpose: This clinical practice guideline provides evidence-based recommendations for treatment of dementia, focusing on cholinesterase inhibitors and N-methyl-D-aspartate (NMDA) receptor antagonists for Alzheimer’s disease (AD) and other types of dementia. Methods: Using the Population, Intervention, Comparison, Outcomes (PICO) framework, we developed key clinical questions and conducted systematic literature reviews. A multidisciplinary panel of experts, organized by the Korean Dementia Association, evaluated randomized controlled trials and observational studies. Recommendations were graded for evidence quality and strength using Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) methodology. Results: Three main recommendations are presented: (1) For AD, cholinesterase inhibitors (donepezil, rivastigmine, galantamine) are strongly recommended for improving cognition and daily function based on moderate evidence; (2) Cholinesterase inhibitors are conditionally recommended for vascular dementia and Parkinson’s disease dementia, with a strong recommendation for Lewy body dementia; (3) For moderate to severe AD, NMDA receptor antagonist (memantine) is strongly recommended, demonstrating significant cognitive and functional improvements. Both drug classes showed favorable safety profiles with manageable side effects. Conclusions This guideline offers standardized, evidence-based pharmacologic recommendations for dementia management, with specific guidance on cholinesterase inhibitors and NMDA receptor antagonists. It aims to support clinical decision-making and improve patient outcomes in dementia care. Further updates will address emerging treatments, including amyloid-targeting therapies, to reflect advances in dementia management.