1.Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Masquerading as Charcot-Marie-Tooth Disease: A Case Study and Literature Review of Korean Patients
Yongmoo KIM ; Seungbok LEE ; Jae So CHO ; Jihoon G YOON ; Sheehyun KIM ; Man Jin KIM ; Jong Hee CHAE ; Manho KIM ; Jangsup MOON
Journal of Movement Disorders 2025;18(1):93-95
2.Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Masquerading as Charcot-Marie-Tooth Disease: A Case Study and Literature Review of Korean Patients
Yongmoo KIM ; Seungbok LEE ; Jae So CHO ; Jihoon G YOON ; Sheehyun KIM ; Man Jin KIM ; Jong Hee CHAE ; Manho KIM ; Jangsup MOON
Journal of Movement Disorders 2025;18(1):93-95
3.Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Masquerading as Charcot-Marie-Tooth Disease: A Case Study and Literature Review of Korean Patients
Yongmoo KIM ; Seungbok LEE ; Jae So CHO ; Jihoon G YOON ; Sheehyun KIM ; Man Jin KIM ; Jong Hee CHAE ; Manho KIM ; Jangsup MOON
Journal of Movement Disorders 2025;18(1):93-95
4.Interpretation and Elaboration for the ARRIVE Guidelines 2.0—Animal Research: Reporting In Vivo Experiments (V)
Zhengwen MA ; Xiaying LI ; Xiaoyu LIU ; Yao LI ; Jian WANG ; Jin LU ; Guoyuan CHEN ; Xiao LU ; Yu BAI ; Xuancheng LU ; Yonggang LIU ; Yufeng TAO ; Wanyong PANG
Laboratory Animal and Comparative Medicine 2024;44(1):105-114
Improving the reproducibility of biomedical research results is a major challenge. Transparent and accurate reporting of the research process enables readers to evaluate the reliability of the research results and further explore the experiment by repeating it or building upon its findings. The ARRIVE 2.0 guidelines, released in 2019 by the UK National Centre for the Replacement, Refinement and Reduction of Animals in Research (NC3Rs), provide a checklist that is applicable to any in vivo animal research report. These guidelines aim to improve the standardization of experimental design, implementation, and reporting, as well as enhance the reliability, repeatability, and clinical translation of animal experimental results. The use of the ARRIVE 2.0 guidelines not only enriches the details of animal experimental research reports, ensuring that information on animal experimental results is fully evaluated and utilized, but also enables readers to understand the content expressed by the author accurately and clearly, promoting the transparency and completeness of the fundamental research review process. At present, the ARRIVE 2.0 guidelines have been widely adopted by international biomedical journals. This article is based on the best practices following the ARRIVE 2.0 guidelines in international journals, and it interprets, explains, and elaborates in Chinese the fifth part of the comprehensive version of the ARRIVE 2.0 guidelines published in PLoS Biology in 2020 (the original text can be found at
5.Characterizing Families of Pediatric Patients with Rare Diseases and Their Diagnostic Odysseys: A Comprehensive Survey Analysis from a Single Tertiary Center in Korea
Jaeso CHO ; Young Shin JOO ; Jihoon G. YOON ; Seung Bok LEE ; Soo Yeon KIM ; Jong Hee CHAE ; Yong Jin KWON
Annals of Child Neurology 2024;32(3):167-175
Purpose:
Rare diseases necessitate consistent access to specialized health services. In Korea, despite the growing socioeconomic burden, insufficient comprehensive research is available on patients with rare diseases and their families, particularly concerning factors influencing the length of time to diagnosis. The aim of this study was to thoroughly characterize rare pediatric diseases and explore factors impacting the diagnostic odyssey.
Methods:
The study enrolled patients under 15 years old seeking medical care at the Seoul National University Children’s Hospital Rare Disease Center between January 2022 and December 2023. Participating patients were required to have been diagnosed with one of the 1,248 rare diseases recognized in Korea. A 33-question survey was developed to assess clinical features of the patients, characteristics of their primary caregivers, and their perceptions of ongoing medical care.
Results:
The study included 101 patients and their families. Regarding perceived cognitive and motor functions, most families indicated moderate or severe limitations (cognitive, 62.4%; motor, 57.4%). Over half of the families (53.5%) reported discontinuing employment to provide patient care. Neurological symptoms represented the most common initial chief concern, with dermatologic symptoms and laboratory test abnormalities also noted. Three factors were associated with time to diagnosis: the number of hospitals visited, whether the districts of residence and diagnosis aligned, and the age at symptom onset.
Conclusion
The comprehensive characterization of patients with rare diseases and their families in Korea, along with the identification of factors impacting the diagnostic odyssey, provides key insights for the development of a tailored support system.
6.Adolescent Idiopathic Scoliosis: Is the Feasible Option of Minimally Invasive Surgery using Posterior Approach?
Hong Jin KIM ; Lawrence G. LENKE ; Javier PIZONES ; René CASTELEIN ; Per D. TROBISCH ; Mitsuru YAGI ; Michael P. KELLY ; Dong-Gune CHANG
Asian Spine Journal 2024;18(2):287-300
The purpose of this systematic review and meta-analysis is to perform a systematic review and meta-analysis of previous studies on minimally invasive scoliosis surgery (MISS) in adolescents with idiopathic scoliosis (AIS). Some data on MISS in AIS compared with conventional open scoliosis surgery (COSS) are conflicting. A systematic literature search was conducted in Medline, Embase, and Cochrane Library, including studies reporting outcomes for MISS in AIS. The meta-analysis compared the operative, radiological, and clinical outcomes and complications between MISS and COSS in patients with AIS. Of the 208 records identified, 15 nonrandomized studies with 1,369 patients (reviews and case reports are excluded) were included in this systematic review and meta-analysis. The mean scale was 6.1, and eight of the 15 included studies showed satisfactory quality using the Newcastle-Ottawa scale. For operative outcomes, MISS had significant benefits in terms of estimated blood loss (standard mean difference [SMD], -1.87; 95% confidence interval [CI], -2.94 to -0.91) and hospitalization days (SMD, -2.99; 95% CI, -4.45 to -1.53) compared with COSS. However, COSS showed significantly favorable outcomes for operative times (SMD, 1.71; 95% CI, 0.92–2.51). No significant differences were observed in radiological outcomes, including Cobb’s angle of the main curve and thoracic kyphosis. For clinical outcomes, MISS showed significant benefits on the visual analog scale score (SMD, -0.91; 95% CI, -1.36 to -0.47). The overall complication rates of MISS were similar to those of COSS (SMD, 0.96; 95% CI, 0.61–1.52). MISS using the posterior approach provides equivalent radiological and clinical outcomes and complication rates compared with COSS. Considering the lower estimated blood loss, shorter hospitalization days, and longer operative times in MISS, COSS is still the mainstay of surgical treatment in AIS; however, MISS using the posterior approach is also one of the surgical options of choice in the case of moderate AIS.
7.Distal Medium Vessel Occlusion Strokes: Understanding the Present and Paving the Way for a Better Future
Raul G. NOGUEIRA ; Mohamed F. DOHEIM ; Alhamza R. AL-BAYATI ; Jin Soo LEE ; Diogo C. HAUSSEN ; Mahmoud MOHAMMADEN ; Michael LANG ; Matthew STARR ; Marcelo ROCHA ; Catarina Perry da CÂMARA ; Bradley A. GROSS ; Nirav R. BHATT
Journal of Stroke 2024;26(2):190-202
Distal medium vessel occlusions (DMVOs) are thought to cause as many as 25% to 40% of all acute ischemic strokes and may result in substantial disability amongst survivors. Although intravenous thrombolysis (IVT) is more effective for distal than proximal vessel occlusions, the overall efficacy of IVT remains limited in DMVO with less than 50% of patients achieving reperfusion and about 1/3 to 1/4 of the patients failing to achieve functional independence. Data regarding mechanical thrombectomy (MT) among these patients remains limited. The smaller, thinner, and more tortuous vessels involved in DMVO are presumably associated with higher procedural risks whereas a lower benefit might be expected given the smaller amount of tissue territory at risk. Recent advances in technology have shown promising results in endovascular treatment of DMVOs with room for future improvement. In this review, we discuss some of the key technical and clinical considerations in DMVO treatment including the anatomical and clinical terminology, diagnostic modalities, the role of IVT and MT, existing technology, and technical challenges as well as the contemporary evidence and future treatment directions.
9.Pathophysiology of obesity and its associated diseases.
Xin JIN ; Tingting QIU ; Li LI ; Rilei YU ; Xiguang CHEN ; Changgui LI ; Christopher G PROUD ; Tao JIANG
Acta Pharmaceutica Sinica B 2023;13(6):2403-2424
The occurrence of obesity has increased across the whole world. Many epidemiological studies have indicated that obesity strongly contributes to the development of cancer, cardiovascular diseases, type 2 diabetes, liver diseases and other disorders, accounting for a heavy burden on the public and on health-care systems every year. Excess energy uptake induces adipocyte hypertrophy, hyperplasia and formation of visceral fat in other non-adipose tissues to evoke cardiovascular disease, liver diseases. Adipose tissue can also secrete adipokines and inflammatory cytokines to affect the local microenvironment, induce insulin resistance, hyperglycemia, and activate associated inflammatory signaling pathways. This further exacerbates the development and progression of obesity-associated diseases. Although some progress in the treatment of obesity has been achieved in preclinical and clinical studies, the progression and pathogenesis of obesity-induced diseases are complex and unclear. We still need to understand their links to better guide the treatment of obesity and associated diseases. In this review, we review the links between obesity and other diseases, with a view to improve the future management and treatment of obesity and its co-morbidities.

Result Analysis
Print
Save
E-mail