Objective To understand the current status of blood pressure variability and dyslipidemia in young and middle-aged patients with ischemic stroke, and to explore their relationship with prognosis. Methods A total of 312 young and middle-aged patients with ischemic stroke who met the inclusion criteria in Beijing Pinggu District Hospital from January 2022 to January 2025 were selected. The prognosis status [modified Rankin scale (mRS)], blood pressure variability, and blood lipids [total cholesterol (TC), triacylglycerol (TG), low-density lipoprotein cholesterol (LDL-C), and high-density lipoprotein cholesterol (HDL-C)] were analyzed. The correlation of blood pressure variability and blood lipids levels with prognosis was explored by logistic regression analysis. Results There were 206 patients with good prognosis and 106 patients with poor prognosis. The number of patients who received diversified health education in the good prognosis group was more than that in the poor prognosis group (P<0.05). The systolic blood pressure successive variation (SV) and average real variability (ARV), and diastolic blood pressure SV and ARV were lower in the good prognosis group than those in the poor prognosis group (P<0.05). Furthermore, compared with the poor prognosis group, the good prognosis group had lower levels of TC, TG and LDL-C, while the number of patients receiving diversified health education and the level of HDL-C were higher (P<0.05). After logistic regression analysis, it was found that the levels of TC, TG, LDL-C, systolic blood pressure SV and ARV, and diastolic blood pressure SV and ARV were risk factors for poor prognosis. Conversely, receiving diversified health education and HDL-C level were protective factors for poor prognosis (P<0.05). Conclusion High blood pressure fluctuation, dyslipidemia, and lack of health education will increase the risk of poor prognosis in young and middle-aged stroke patients.

Background: Rosacea is a chronic inflammatory skin disorder characterized by erythema, papules, ocular symptoms, and heightened sensitivity. Patients with neurogenic symptoms such as burning or stinging remain particularly difficult to manage. Current guidelines often underrepresent energy-based devices (EBDs), pigmentary sequelae, psychosocial burden, and ocular comorbidities. Objective: To examine Korean dermatologists’ expert perspectives on rosacea management, focusing on skin sensitivity, neurogenic symptoms, pigmentary changes, psychosocial impact, ocular involvement, and EBD use. Methods: A web-based, 29-item survey was administered to 25 board-certified Korean dermatologists (May–June 2025). Quantitative and qualitative responses were analyzed. Results: Erythematotelangiectatic and papulopustular phenotypes with sensitivity skin predominated. EBDs (pulsed dye laser, intense pulsed light) were frequently used but limited by cost and sensitivity issues. Neurogenic symptoms were recognized but rarely treated with neuromodulators. Post-inflammatory hyperpigmentation was infrequent, yet monitoring was inconsistent.Psychosocial and ocular aspects were acknowledged but seldomly systematically addressed.Respondents expressed interest in emerging adjunctive treatments such as cold plasma, skin boosters, and holistic care approaches. Conclusion Korean dermatologists adopt individualized strategies for rosacea, yet practice gaps remain regarding neurogenic symptoms, pigmentary complications, and psychosocial and ocular comorbidities. Findings support the need for updated multidisciplinary, phenotype-driven guidelines aligned with real-world practice.

Background: Single nucleotide polymorphism-based chromosomal microarray analysis (CMA) can detect regions of homozygosity (ROHs), which may be associated with medical conditions; however, limited ROH data, especially in East Asians, complicates clinical interpretations. We characterized ROH distributions and frequencies in a Korean population using CMA, highlighting clinically relevant findings, including suspected uniparental disomy (UPD), using standardized criteria. Methods: We analyzed ROHs in 1,731 individuals who underwent postnatal CMA at a Ko-rean medical center. ROHs ≥ 3 Mb long were detected using the CytoScan Dx platform and Chromosome Analysis Suite Dx. Suspected UPD and consanguinity were assessed per the American College of Medical Genetics and Genomics technical standards. Results: We identified 3,962 ROHs, with 76.7% of patients carrying at least one. Common “hotspot” regions included 3p21.31p21.1 (20.3%), 11p11.2 (18.2%), 1q21.1q21.3(17.7%), and 1p33p32.3 (12.0%). Almost all ROHs observed in > 1% of patients had a median size of < 5 Mb. ROH frequencies correlated negatively with chromosomal recombina-tion rates and positively with gene densities. Additionally, 1.2% (N = 21) of patients exhib-ited ROH patterns suggestive of UPD or consanguinity (13 suspected UPDs on imprinted chromosomes, 6 on non-imprinted chromosomes, and 2 consanguinities); 8 of 13 patients with suspected UPD were diagnosed as having imprinting disorders, with no pathogenic copy number variations detected. Conclusions Our population-specific ROH data for Koreans improve clinical interpretations by minimizing the risk of overinterpreting benign variants and highlight the value of standardized criteria for reliably detecting UPD and consanguinity and integrating ROH analysis into routine CMA interpretations.

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.

Background: Fusion genes are major drivers of acute leukemia. Conventional diagnostics are limited in detecting the diverse fusions included in recently updated acute leukemia classifications. We evaluated the fusion detection performance of RNA sequencing (RNAseq) compared with that of conventional diagnostics in patients with acute leukemia. Methods: We retrospectively obtained the data of 101 patients with acute leukemia who underwent conventional diagnostics (i.e., karyotyping, FISH, or multiplex reverse transcription PCR) at diagnosis at Samsung Medical Center, Seoul, Korea, between September 2022 and September 2023. Whole RNA-seq was performed using the Illumina Stranded mRNA Prep kit (Illumina, San Diego, CA, USA). The concordance, sensitivity, and specificity of RNA-seq for fusion gene detection were compared with those of conventional diagnostics. Results: RNA-seq helped identify 52 fusion genes in 51 (50.5%) of 101 patients, with detection rates of 40.7%, 70.3%, 37.5%, and 50% in acute myeloid leukemia, B-cell acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemia, and mixed-phenotype acute leukemia, respectively. RNA-seq showed 83.3% sensitivity and 80.8% concordance with conventional diagnostics; it missed eight fusions, likely because of low transcript abundance or enhancer hijacking. RNA-seq also helped clarify three previously unspecified rearrangements and detected 12 fusions (21.4%) in 56 cases that tested negative with conventional diagnostics, including four novel (KMT2A::THAP12 , RUNX1::PRPF19 , MLLT10::UBE2L6, and FUS::ZNF362) and three rare (HNRNPH1::ERG, RUNX1::USP42, and ETV6::NCOA2) fusions. Conclusions This was the first study to evaluate the performance of whole RNA-seq in fusion detection in patients with acute leukemia in Korea. Incorporating RNA-seq into diagnostic workflows may facilitate earlier and more precise therapeutic decisions and improve prognostic assessment in patients with acute leukemia.

Burning mouth syndrome remains a frequent source of diagnostic delay, repeated consultations, and fragmented care because it has long been treated as a “diagnosis of exclusion.” Recent updates in orofacial pain classification and research diagnostic frameworks support a practical shift: from an exclusionary label toward a structured diagnostic algorithm and staged, phenotype-guided management. This narrative, algorithm-focused clinical review aims to summarize clinically actionable evidence and to propose a “minimum sufficient workup” that prioritizes safety, efficiency, and patient-centered communication.We first outline pragmatic diagnostic criteria and key symptom patterns, then integrate current concepts of mixed mechanisms—peripheral neuropathic features, centralociplastic amplification, and psychosocial modulators—that account for symptom fluctuation and discordance between symptom severity and objective findings. The core of this review is a one-page stepwise algorithm: (1) confirm chronicity and absence of visible mucosal disease, (2) screen for red flags requiring urgent evaluation, (3) address common local contributors (e.g., candidiasis, irritants, contact allergy, xerostomia), (4) perform a targeted systemic/medication/deficiency panel, and (5) phenotype patients to guide staged treatment choices and follow-up. Finally, we provide a practical management framework emphasizing education, trigger control, and individualized combinations of topical, systemic, and behavioral interventions with predefined reassessment intervals. Future priorities include phenotype-stratified randomized trials and implementation outcomes that quantify reductions in diagnostic delay, misdiagnosis, and unnecessary testing.

Persistent idiopathic dentoalveolar pain (PIDAP) is a chronic orofacial pain condition characterized by persistent pain in the absence of detectable dental pathology. Due to its ambiguous clinical presentation, PIDAP is frequently overlooked or misdiagnosed, leading to prolonged patient suffering and unnecessary dental treatments. This review provides a structured educational overview of PIDAP for dental students and early-career clinicians, covering its definition, taxonomy, differential diagnosis, pathophysiology, clinical significance, and management principles. A narrative literature review was conducted using PubMed and Scopus databases with the following search terms: “persistent dentoalveolar pain,” “atypical odontalgia,” “PIDAP,” “orofacial pain,” and “chronic overlapping pain conditions.” The search covered publications up to December 2024, limited to English-language articles. Priority was given to relevant classification guidelines, epidemiological data, and studies addressing diagnostic challenges, nomenclature changes, pathophysiology, and the relationship between PIDAP and chronic overlapping pain conditions (COPCs). Thirty-four key references were included after screening. Current diagnostic criteria, the historical evolution of PIDAP taxonomy, and major pathophysiological hypotheses—including peripheral sensitization, central sensitization, and nociplastic pain mechanisms—are summarized. The high rate of comorbidity with COPCs and the frequent misdiagnosis of PIDAP highlight its clinical importance, as epidemiological data indicate that diagnostic delays may range from several months to years. Improving awareness and understanding of PIDAP among dental students and clinicians can facilitate early recognition, reduce misdiagnosis, and contribute to more effective management. Incorporating PIDAP-related education into undergraduate dental curricula and continuing education programs may further bridge current knowledge gaps and improve patient outcomes.

The spleen is frequently referred to as the “silent and forgotten” organ of the abdomen by clinicians and radiologists, primarily because of the secondary nature of most splenic pathologies and their relative rarity compared with hepatic diseases.Nevertheless, the term splenomegaly frequently appears in radiological reports. Although it is often reported in the context of a known underlying cause, it is also commonly used as a purely descriptive term without reference to the underlying etiology.Although splenomegaly may occasionally be idiopathic, it commonly represents an underlying pathological condition.Therefore, radiologists are instrumental in accurately identifying splenomegaly, evaluating plausible differential diagnoses, and guiding appropriate clinical management and workups. Given the wide spectrum of etiologies and overlapping imaging features, a systematic approach is essential to enhance the diagnostic accuracy and clinical relevance. Here, we present a comprehensive literature review of splenomegaly from a radiological perspective, with causes categorized according to pathophysiological mechanisms.