1.Clinical Practice Guideline for the Prehospital Stage of Acute Stroke : III. Initial Decision for Primary Treatment in Subarachnoid Hemorrhage
Jae Sang OH ; Jong Min LEE ; Hong Suk AHN ; Jung-Jae KIM ; Kyoung Min JANG ; Gi-Yong YUN ; Jang Hun KIM ; Dongwook SEO ; Hyeong Jin LEE ; Yuna JO ; Jinwoo JEONG ; Kyoung-Chul CHA ; Yong Soo CHO ; Su Jin KIM ; Jongkyu PARK ; Won-Sang CHO ; Hoon KIM ; Young Woo KIM ; Seung Hun SHEEN ; Sang Weon LEE ; Jae Whan LEE ; Tae Gon KIM ; Sung-kon HA ; Sukh Que PARK ; Dae-Won KIM ; Soon Chan KWON
Journal of Korean Neurosurgical Society 2026;69(1):35-50
Subarachnoid hemorrhage (SAH) is a stroke subtype with high mortality and poor functional outcomes. Prompt occlusion of a ruptured aneurysm at an early stage is crucial to prevent rebleeding, which can result in even higher mortality and more severe disabilities. The most critical initial decision in SAH management is the choice of treatment method with surgical clipping or endovascular coiling. We aimed to develop an evidence-based clinical guideline to select the optimal initial treatment in patients with SAH. We developed this guideline based on evidence from systematic reviews and meta-analyses via a de novo process. A systematic literature review was conducted across four databases (MEDLINE, Embase, Cochrane, and KoreaMed) to answer two population, intervention, comparison, outcome questions comparing clipping and coiling. The risk of bias was assessed using ROB 2.0 and the Newcastle-Ottawa Scale. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses flow diagrams and meta-analyses were generated for functional outcome and mortality. We included six randomized control trials (RCTs) and 58 observational studies. Meta-analysis of RCTs showed that coiling improved functional outcomes compared to clipping (odds ratio [OR], 0.91; 95% confidence interval [CI], 0.86–0.97). No significant mortality difference was observed in RCTs (OR, 1.38; 95% CI, 0.91–2.09), but non-RCTs favored clipping for reduced mortality (OR, 0.77; 95% CI, 0.69–0.86). However, it is difficult to generalize these findings to all clinical situations, as patients with SAH have a highly variable clinical course. Final treatment decision should be tailored to the individual patient’s status, including aneurysm location, morphology, and the expertise available at the treatment center. Such decisions are best made by specialists such as a board-certified physician and should be explained to the patient and their caregivers, along with the rationale for selecting the most appropriate treatment at the given hospital. Korea has many certified endovascular neurosurgeons, cerebrovascular surgeons, and certified cerebrovascular centers. Proper selection of the most suitable treatment method by certified physicians and centers would greatly benefit patient outcomes and healthcare professionals.
2.Clinical Practice Guideline for the Prehospital Stage in Acute Stroke : I. Use of Emergency Medical Services Assessment Tools
Jae Sang OH ; Dongwook SEO ; Jinwoo JEONG ; Kyoung-Chul CHA ; Yong Soo CHO ; Su Jin KIM ; Jongkyu PARK ; Won-Sang CHO ; Se Won OH ; Jang Hun KIM ; Hyeong Jin LEE ; Hong Suk AHN ; Yuna JO ; Jung-Jae KIM ; Kyoung Min JANG ; Gi-Yong YUN ; Jong Min LEE ; Hoon KIM ; Young Woo KIM ; Tae Gon KIM ; Sung-kon HA ; Sukh Que PARK ; Soon Chan KWON
Journal of Korean Neurosurgical Society 2026;69(1):7-22
Accurate and early identification of stroke and large vessel occlusion (LVO) in emergency settings is essential for improving patient outcomes and ensuring the efficient allocation of medical resources. This clinical practice guideline systematically reviews domestic and international literature and conducts meta-analyses to evaluate the utility and diagnostic accuracy of stroke assessment tools used in prehospital emergency medical services (EMS). We developed a guideline based on evidence from systematic reviews and meta-analyses via a de novo process. A systematic literature review was conducted to evaluate the usefulness of diagnostic EMS assessment tools for diagnosing stroke and LVO. Overall, 70 non-randomized control studies were selected for this study. A meta-analysis was conducted with a subgroup analysis to distinguish between patients with stroke and those with LVO. EMS tools demonstrated high sensitivity but low specificity for diagnosing stroke. In the prehospital setting, using validated EMS stroke assessment tools is recommended for the early identification of stroke and LVO. Upon hospital arrival, stroke specialists should conduct further evaluation and triage to confirm the diagnosis and guide appropriate management. Delays in diagnosing LVO are frequently unacceptable. While experts advocate for the use of EMS assessment tools to facilitate early identification of LVO, these tools alone lack adequate sensitivity. Therefore, further diagnostic evaluations and consultation with stroke specialists upon hospital arrival are recommended.
3.Clinical Practice Guidelines for the Prehospital Stage of Acute Stroke in Korea II : Transport Decisions for Patients with Acute Ischemic Stroke
Jae Sang OH ; Yuna JO ; Jong Min LEE ; Hong Suk AHN ; Jung-Jae KIM ; Kyoung Min JANG ; Gi-Yong YUN ; Jang Hun KIM ; Dongwook SEO ; Hyeong Jin LEE ; Jinwoo JEONG ; Kyoung-Chul CHA ; Yong Soo CHO ; Su Jin KIM ; Jongkyu PARK ; Won-Sang CHO ; Hoon KIM ; Young Woo KIM ; Seung Hun SHEEN ; Sang Weon LEE ; Jae Whan LEE ; Tae Gon KIM ; Sung-kon HA ; Sukh Que PARK ; Soon Chan KWON
Journal of Korean Neurosurgical Society 2026;69(1):23-34
The mothership (MS) model, where patients are directly transferred to a thrombectomy-capable center, and the drip-and-ship (DS) model, where thrombolysis is initiated at the nearest primary stroke center before transfer for thrombectomy, are the primary transport modes for patients with stroke. We aimed to establish guidelines for selecting the appropriate transfer strategy based on emergent large vessel occlusion (LVO). We developed this guideline based on evidence from systematic reviews and meta-analyses via a de novo process. A systematic literature review was conducted across four databases (MEDLINE, Embase, Cochrane, and KoreaMed) to answer three Population, Intervention, Comparison, and Outcome questions comparing MS and DS models. The risk of bias was assessed using the Newcastle-Ottawa Scale. Preferred Reporting Items for Systematic Reviews and Meta-Analyses flow diagrams and meta-analyses were generated for functional outcomes, mortality, and successful recanalization. Twenty-six non-randomized controlled studies showed that the MS model improved good functional outcomes by approximately 14% compared with the DS model (odds ratio [OR], 1.14; 95% confidence interval [CI], 1.00–1.30). Fifteen studies reported that mortality in the MS and DS models showed no significant differences (OR, 0.97; 95% CI, 0.84–1.11). Twenty-four studies revealed no significant difference in successful recanalization between the MS and DS models (OR, 0.87; 95% CI, 0.68–1.10). The MS model should be considered first to improve the functional outcome of patients with LVO. However, if thrombectomy cannot be performed immediately after thrombolysis, or if a thrombectomy-enabled hospital is not nearby, the DS model should be considered by stroke specialists depending on transportation time and regional factors. We suggest a mixed approach with the DS model based on specific circumstances or regions to ensure the optimum treatment of patients with acute ischemic stroke (AIS). Appropriate transport for patients with LVO improves the prognosis of AIS.
4.Investigation of the regulatory effect of overexpressed Ptpn2 on SiO2-mediated mouse alveolar macrophages based on iTRAQ technology
Yi WEI ; Yaqian LI ; Xinjie LI ; Mengfei FENG ; Fuyu JIN ; Hong XU ; Ying ZHU
Acta Universitatis Medicinalis Anhui 2026;61(2):183-191
ObjectiveTo investigate the regulatory effect of overexpressed protein tyrosine phosphatase non-receptor type 2 (Ptpn2) on the inflammatory response of mouse alveolar macrophages (MH-S) induced by SiO₂. MethodsCells with overexpressed Ptpn2 were constructed and induced by SiO₂. The experimental groups were divided into four groups: the negative control group with an empty vector (NC), the overexpressed Ptpn2 group (P), the negative control group with an empty vector + SiO₂ induction (NS), and the overexpressed Ptpn2 + SiO₂ induction group (PS). Isobaric tags for relative and absolute quantification (iTRAQ) combined with liquid chromatography-tandem mass spectrometry (LC-MS/MS) were used to screen differential proteins, followed by Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) database analyses. Immunofluorescence staining was used to detect the expressions of Tumor necrosis factor (TNF) α, Gasdermin D (GSDMD), and Transforming growth factor (TGF)-β1. Western blot was used to detect the protein expression levels of PTPN2, Toll-like receptor 4 (TLR4), tumor necrosis factor-α (TNF-α), nucleotide-binding oligomerization domain-like receptor protein 3 (NLRP3), and proteins related to the TGF-β1 signaling pathway in the cells of each group. ResultsiTRAQ results identified 144 differential proteins among the four groups. GO analysis showed that in biological processes (BP), these differential proteins were mainly enriched in IκB kinase/nuclear factor-κB (NF-κB) signaling, cell activation and signal transduction involved in immune responses, and regulation of receptor signaling pathways by signal transducer and activator of transcription (STAT), etc. KEGG analysis revealed that the differential proteins were mainly enriched in Toll-like receptor signaling pathway, NF-κB signaling pathway, NOD-like receptor signaling pathway, TGF-β signaling pathway, and TNF signaling pathway. The results of immunofluorescence staining showed that compared with the NC group, the expressions of TNF α, GSDMD, and TGF-β1 in the cells of the NS group increased (P < 0.05); compared to the NS group, the expression of the aforementioned proteins in the PS group decreased in cellular proteins(P < 0.05). The results of Western blot showed that compared with the NC group, the protein expression levels of PTPN2, p-NF-κB,MyD88,TLR4,NLRP3,GSDMD,Caspase-1,IL-1β, TGF-βR1, TGF-βR,p-Smad2/3 in the NS group were significantly upregulated (P < 0.05); compared with the NS group, the expression levels of the aforementioned proteins in the PS group were significantly downregulated (P < 0.05). ConclusionOverexpression of Ptpn2 can inhibit the protein expressions of TLR4-TNF-α signaling, NLRP3 signaling, and TGF-β1 signaling closely related to inflammatory response in SiO₂-mediated MH-S macrophages.
5.Compact Fundus Imaging System Using Shack-Hartmann Wavefront Sensing for High-speed Auto-focus
Zhe-Kai LIN ; Long CHEN ; Geng-Yong ZHENG ; Jin-Tian HUANG ; Jia-Xin DONG ; Shang-Pan YANG ; Wen-Zheng DING ; Ding-An HAN ; Xue-Hua WANG ; Ya-Guang ZENG
Progress in Biochemistry and Biophysics 2026;53(4):1076-1086
ObjectiveThe widespread adoption of portable fundus cameras for primary care and community screening is hindered by limitations in current autofocus(AF) technologies. Image-based methods relying on sharpness evaluation require iterative searches, resulting in slow convergence, while projection-based techniques are susceptible to optical artifacts and calibration errors. To address these challenges, this study introduces a novel AF system based on direct wavefront sensing, designed to deliver simultaneous high speed, high precision, and operational robustness within the compact form factor essential for portable ophthalmic devices. MethodsOur approach fundamentally reimagines the AF process by directly measuring the ocular wavefront aberration. We developed a custom portable fundus camera integrating a miniaturized Shack-Hartmann wavefront sensor (SHWS) into the optical path. An 850 nm laser diode projects a point source onto the retina via oblique illumination to minimize corneal reflections. Light scattered from this spot carries the eye’s refractive error through the imaging optics and is directed to the SHWS, positioned at a plane optically conjugate to the primary color CMOS imaging sensor. A microlens array within the SHWS samples the incident wavefront, generating a pattern of focal spots on a CCD. Real-time centroid analysis of these spots provides a map of local wavefront slopes. These measurements are processed through a singular value decomposition (SVD) algorithm to fit a Zernike polynomial basis set, enabling real-time reconstruction of the wavefront phase. The defocus component (S) is extracted from the second-order Zernike coefficients, providing a direct, quantitative measure of the refractive error in diopters. This value serves as a precise error signal in a closed-loop control system, which commands a voice-coil actuated focusing lens to its null position in a single, deterministic step, eliminating the need for iterative search algorithms. ResultsComprehensive evaluation demonstrated the system’s high performance. Testing on a calibrated model eye (OEMI-7) established a highly linear relationship between the computed defocus S and the focusing lens position across a ±20 Diopter (D) compensation range, achievable within a 5 mm mechanical travel. The system achieved a focusing precision of 0.08 D, corresponding to an 18-fold improvement over a conventional projection spot-size method tested under identical conditions. The total focus acquisition time, encompassing wavefront measurement, computation, and lens actuation, averaged under 0.5 s. Clinical validation with 25 human volunteers (50 eyes, refractive range -15 D to +10 D) confirmed practical efficacy. The wavefront-sensing AF succeeded in 92% of attempts with a mean time of 0.5 s, substantially outperforming a projection-based benchmark which achieved only a 32% success rate with an average time of 4.25 s. The system provided instantaneous directional guidance and maintained stability during minor ocular movements. Objective assessment of image quality, via amplitude contrast of retinal vasculature, showed consistent and significant enhancement following AF correction across the entire tested diopter range. ConclusionThis work successfully implements and validates a direct wavefront-sensing autofocus paradigm for portable fundus cameras. By directly quantifying and compensating for the optical defocus aberration, this method bypasses the fundamental limitations of image-processing and projection-based techniques, enabling rapid, precise, and deterministic diopter compensation. The developed system delivers an exceptional combination of a wide operational range (±20 D), high accuracy (0.08 D), fast convergence (0.5 s), and a compact physical footprint. This technology provides a practical and high-performance focusing solution capable of enhancing the reliability, throughput, and diagnostic utility of portable retinal imaging in large-scale screening applications. Future efforts will be directed towards system cost optimization and performance adaptation for diverse ocular conditions.
6.Construction of hospital preparation cost item library based on the Delphi method
Shunlong OU ; Hong LIN ; Qian JIANG ; Zhaohui JIN
China Pharmacy 2026;37(9):1122-1126
OBJECTIVE To establish a hospital preparation cost item library, providing a reference for the refined accounting management of preparation costs in medical institutions. METHODS Based on literature analysis and practical work experience, a preliminary list of cost items was drafted. The Delphi method was employed to screen and optimize the items by analyzing the questionnaire recovery rate, expert authority coefficient, item importance score, coefficient of variation, and Kendall’s W of concordance. RESULTS The questionnaire recovery rates for the two rounds of expert consultation were 95.7% and 100%, respectively; the expert authority coefficients were 0.937 and 0.939, respectively; Kendall’s W of concordance were statistically significant ( P <0.001). The finally established hospital preparation cost item library included 6 first-level items (such as raw material and packaging material costs, human resource costs, and production operation costs) and 29 second-level items (including main drug raw material costs, production personnel compensation, and finished product full-item testing costs), comprehensively covering dimensions such as raw materials and packaging materials, fixed asset depreciation and equipment maintenance, human resources, production operations, energy and environment, and R & D and other costs. CONCLUSIONS This study successfully establishes a scientific and reliable cost item library for medical institution preparations, which can guide institutions to itemize actual expenditures, provide structured evidence for autonomous pricing, and support data needs for the formulation of insurance access and payment policies for innovative preparations.
7.Association between sleep patterns and myopia progression in younger school-age children in Changning District, Shanghai
Zihan JIANG ; Cidan YANGZONG ; Zeyan JIN ; Weiyi WEI ; Hong PANG ; Lei QIAN ; Qiaozhen HU ; Jianlin ZHUANG ; Chunjin NIU ; Qian WEI
Shanghai Journal of Preventive Medicine 2026;38(4):296-301
ObjectiveTo investigate the correlation between sleep patterns and myopia progression among younger school-age children at a primary school in Changning District of Shanghai, based on the data from the Shanghai Students’ Common Diseases and Health Influencing Factors Monitoring System and a sleep-specific survey, so as to provide data support for myopia prevention and control in this age group. MethodsOne primary school was selected from the common diseases and health influencing factors monitoring system for students in Changning District, Shanghai. A total of 230 first-grade students were included in the study. Myopia and refractive parameters were examined, and sleep patterns were investigated. General demographic characteristics and myopia-related behavior data of the students were also collected. Sleep patterns were evaluated in terms of sleep duration, sleep efficiency, and sleep quality, with the latter assessed using the Chinese version of the Children’s Sleep Habits Questionnaire (CSHQ). Multiple linear regression and binary logistic regression models were used to analyze the association between sleep patterns and myopia progression among these students. ResultsThe results of the regression analyses revealed that the total CSHQ score of the students at baseline survey was (48.85±7.15) points. Their sleep efficiency was (94.49±8.48)%, sleep duration was (9.58±0.93) hours, and the proportion of those with insufficient sleep (<10 hours) was 78.26%. At baseline survey, students’ higher daytime sleepiness scores were associated with lower spherical equivalent (SE) ( β=-0.18, 95%CI: -0.31 to -0.04) and an increased risk of axial length (AL) / corneal radius (CR) ratio >3 (OR=1.52, 95%CI: 1.00 to 2.29), whereas longer sleep duration and higher sleep efficiency were associated with higher SE (β=0.18, 95%CI: 0.05 to 0.32; β=0.17, 95%CI: 0.04 to 0.31, respectively), shorter (AL) (β=-0.15, 95%CI: -0.27 to -0.03; β=-0.13, 95%CI: -0.25 to 0, respectively) and a reduced risk of AL /CR>3 (OR=0.70, 95%CI: 0.51 to 0.96; OR=0.73, 95%CI: 0.53 to 0.99, respectively). At baseline survey, children’s higher propensity for sleep problems (OR=1.70, 95%CI: 1.04 to 2.78), sleep resistance (OR=2.26, 95%CI: 1.36 to 3.75), and sleep anxiety scores (OR=2.15, 95%CI: 1.33 to 3.48) were all associated with an increased risk of AL/CR >3 at follow-up (all P<0.05). Furthermore, higher sleep anxiety scores predicted prolonged AL at follow-up (β=0.03, 95%CI: 0 to 0.05). According to the mixed-effects model, higher daytime sleepiness scores and prolonged sleep duration were independently linked to reduced right-eye SE (β=-0.05, 95%CI: -0.10 to 0, P<0.05) and shorter right-eye AL (β=-0.05, 95%CI: -0.10 to 0, P<0.05). ConclusionIn this school in Shanghai, there are problems of insufficient and poor-quality sleep among young children. Sleep problems such as sleep resistance, delayed sleep onset, sleep anxiety, and daytime sleepiness among children may accelerate the risk of myopia progression, while longer sleep duration and higher sleep efficiency may serve as protective factors against the occurrence and development of myopia.
8.The Korean Rectal Cancer Multidisciplinary Committee Clinical Practice Guidelines for Rectal Cancer version 2.0
Hyo Seon RYU ; Hyun Jung KIM ; Dong Hyun KANG ; Yoo-Kang KWAK ; Han Deok KWAK ; Yoon-Hye KWON ; Dalyon KIM ; Baek-Hui KIM ; Jae Hyun KIM ; Ji Hun KIM ; Jin Won KIM ; Tae Hyung KIM ; Hae Young KIM ; Soo Min NAM ; Gyoung Tae NOH ; Jun Woo BONG ; Nak Song SUNG ; Seon Hui SHIN ; Kil-Yong LEE ; Sung Chul LEE ; Sea-Won LEE ; Jung Won LEE ; Jong Min LEE ; Myung Hoon IHN ; Joo Han LIM ; Woong Bae JI ; Dae Hee PYO ; Young Ki HONG ; Jung-Myun KWAK ;
Annals of Coloproctology 2026;42(1):4-33
Rectal cancer, which accounts for approximately 40% of colorectal cancers, remains a major clinical concern. Recent advances in diagnostic imaging, surgical techniques, radiotherapy, and systemic treatment have steadily improved rectal cancer outcomes. Considering this, the Korean Rectal Cancer Multidisciplinary (KRCM) Committee has aimed to provide clinicians and policymakers with up-to-date, evidence-based clinical practice guidelines to support optimal decision-making, reflecting current evidence, the Korean healthcare context, and patient values and preferences. The Clinical Practice Guidelines for Rectal Cancer version 2.0 were developed through multidisciplinary collaboration with related academic societies, building upon and updating the KRCM Clinical Practice Guidelines version 1.0 (titled “Multidisciplinary guidelines for the management of rectal cancer”). These consensus guidelines of the KRCM were established based on a comprehensive literature review, evidence synthesis, with recommendation development guided by the GRADE (Grading of Recommendations Assessment, Development and Evaluation) methodology, and consideration of applicability in real-world clinical practice under the national health insurance system. Each recommendation has been presented with its strength and level of evidence.
9.Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease
Youn-Ji HONG ; Sungsoon HWANG ; Ja-Hyun JANG ; Jong-Won KIM ; Sang Jin KIM ; Mi-Ae JANG
Annals of Laboratory Medicine 2026;46(2):200-209
Background:
Retinitis pigmentosa (RP) comprises a heterogeneous group of inherited retinal dystrophies. The genetic landscape of RP has been characterized; however, knowledge gaps regarding age-specific genetic variation trends in Korean patients remain. We comprehensively characterized the age-stratified genetic landscape of RP in Korean patients, with a focus on identifying novel mutational trends and clinically actionable insights.
Methods:
We performed targeted next-generation sequencing of 199 genes associated with RP and related disorders in a cohort of 403 unrelated patients clinically diagnosed as having RP. We analyzed the inheritance patterns, variation spectrum, and prevalence of pathogenic variants, stratifying the results by age, and conducted copy number variation (CNV) analysis.
Results:
A genetic diagnosis was achieved for 193 of the 403 patients (48%). The diagnostic yield was highest in patients diagnosed before 20 yrs of age (60%), with lower yields in older age groups. Although USH2A and EYS, the most common causative genes in autosomal recessive inheritance, were frequently identified, RPGR pathogenic variants accounted for a significantly larger proportion of genetically solved cases diagnosed before the age of 20 yrs (27%–28%) than in those with later-onset disease (9%–15%). CNVs were identified in 4% of genetically solved cases.
Conclusions
The results underscore distinct, age-related genetic contributions to RP in Korean patients, with RPGR variants demonstrating relevance in early-onset disease, and provide diagnostic insights to improve current practices. These findings can aid in prioritizing gene therapy targets and refining screening strategies.
10.Unique TTR Variants D38A and M13dup Among Korean Patients with Hereditary Transthyretin Amyloidosis:A Retrospective Single-Center Cohort Study
Min-Seung PARK ; Jae Joon LEE ; Darae KIM ; Jin-Oh CHOI ; Seok Jin KIM ; Kihyun KIM ; Ju-Hong MIN ; Hyun-Young KIM ; Hee-Jin KIM
Annals of Laboratory Medicine 2026;46(3):309-318
Background:
Transthyretin amyloidosis, a protein-misfolding disorder characterized by systemic amyloid deposition, can be classified as wild-type transthyretin amyloidosis (ATTRwt) or hereditary transthyretin amyloidosis (ATTRv), depending on the presence of transthyretin (TTR) gene variants. We examined the genetic distribution of TTR variants in Korean patients diagnosed with ATTRv.
Methods:
We retrospectively reviewed 801 participants who underwent TTR analysis at Samsung Medical Center from 2012 to 2024. The participants were categorized into two groups: in-house probands or relatives, and externally referred probands or relatives.
Results:
Pathogenic or likely pathogenic TTR variants were detected in 36 of 165 in-house probands (21.8%), among which D38A was the most frequent variant (50.0%; 18/36), followed by M13dup and E89K (8.3% each). Among referred probands, D38A was predominant (54.5%; 12/22), followed by M13dup (22.7%; 5/22). Cardiac amyloid involvement was the most common manifestation, observed in 97.2% (35/36) of in-house probands with ATTRv, followed by peripheral nervous system (PNS; 94.4%) and autonomic nervous system (ANS; 88.9%) involvement. In contrast, ANS involvement was most prevalent among in-house relatives who underwent organ evaluation (61.5%; 24/39), followed by cardiac (52.1%; 25/48) and PNS (48.7%; 19/39) involvement. Five of the eight in-house relatives harboring M13dup (62.5%) showed organ involvement, primarily in the ANS, supporting the pathogenicity of this variant.
Conclusions
This study provides the largest single-institution dataset of Korean patients with ATTRv, incorporating systematic organ assessments. The predominance of the unique TTR variants D38A and M13dup delineates a distinct genetic landscape that may facilitate accurate and timely diagnosis of ATTRv in the Korean population.

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