Background: Autosomal dominant giant platelet syndrome (GPS) is characterized by thrombocytopenia, giant platelets, and Döhle-like inclusion bodies in leukocytes.Previous studies suggest relatively preserved platelet structure and function, implicating impaired megakaryocyte fragmentation. This study aimed to identify myosin heavy chain 9 (MYH9) mutations in Korean patients with GPS and to define the associated clinical, molecular and functional characteristics. Methods: After detailed personal and family history taking, peripheral blood smears were reviewed for platelet size, count, and leukocyte inclusions. MYH9 mutations were analyzed in peripheral blood mononuclear cells by direct sequencing of selected exons or complementary DNA (cDNA). Computer-assisted structural modeling was performed to evaluate the functional consequences of identified mutations. Results: Twenty-two affected individuals from six unrelated families were diagnosed with hereditary macrothrombocytopenia consistent with GPS. The median platelet count was 59,000/L, and the mean platelet volume was markedly increased (17.8 fL). Platelets ranged from approximately half to 1.5 times the size of red blood cells.Döhle-like inclusions were observed in 25-33% of leukocytes in four families. Extrahematologic manifestations included hearing impairment (family with Ile1816Val) and renal involvement, ranging from mild proteinuria to chronic renal failure requiring renal transplantation (family with Lys373Asn). Five families harbored MYH9 mutations—Arg1933Ter, Trp33Cys (novel), Lys373Asn, Ile1816Val, and Arg1165Cys—located in exons 40, 1, 10, 37, and 26, respectively; mutations segregated with affected status.Biochemical analysis revealed decreased MYH9 in soluble fractions with increased insoluble pellets; Trp33Cys and Lys373Asn produced aberrant approximately 140 kDa bands in addition to the normal 224 kDa band. Modeling localized Trp33Cys to the proximal myosin head region implicated in actin interaction. Conclusion Five GPS-associated MYH9 mutations were identified, including a novel Trp33Cys variant. Altered MYH9 solubility and disturbed protein–protein interactions may contribute to disease pathogenesis.

Objectives: This study evaluated the feasibility of voice recognition-based electronic medical record (EMR) documentation for periodontal probing in dentistry, particularly emphasizing Korean-English bilingual speech patterns and real-world clinical conditions. Methods: Experiments were conducted in a dental chair setting during routine clinical hours. Environmental noise levels were measured, and two microphone types (stationary and pin-type) were evaluated. Periodontal probing phrases composed of three-digit numbers and positional terms were used for speech recognition. Consistent with common clinical practice in Korea, numerical values were spoken in Korean, whereas positional terms were spoken in English. Two speech-to-text application programming interfaces, Google Cloud Speech-to-Text and Naver Clova Speech Recognition, were assessed. Recognition accuracy was evaluated for both numerical components and complete bilingual phrases. Results: The mean environmental noise level was 60.65 dB and was minimally influenced by activity at adjacent dental chairs. The stationary microphone failed to capture speech effectively, whereas the pin-type microphone demonstrated stable recognition performance. For three-digit number recognition, accuracy was 88.3% with Google and 96.8% with Naver. For full-phrase recognition, complete matching was achieved in 36.7% of cases for Google and 52.5% for Naver. Partial recognition occurred more frequently for numerical components than for English positional terms. Conclusions Voice recognition-based EMR documentation for periodontal probing demonstrated preliminary feasibility in a dental clinical environment; however, performance was influenced by Korean-English bilingual speech patterns. These findings suggest that bilingual speech characteristics should be considered when implementing voice recognition systems in dental EMR workflows. Further optimization is required before routine clinical application.

Purpose: To report a case of Harada-like syndrome occurring in a patient with chronic hepatitis B and compensated liver cirrhosis.Case summary: A 66-year-old man with hepatitis B surface antigen positivity and Child-Pugh A cirrhosis presented with a two- to three-day history of decreased vision in the right eye. Best-corrected visual acuity was 0.5 in the right eye and 1.0 in the left eye. Slit-lamp examination showed no anterior chamber or vitreous inflammation. Optical coherence tomography revealed a thicker choroid in the right eye in comparison to the left, along with choroidal folds and multifocal subretinal fluid (SRF) in the right eye. Wide-field fundus imaging revealed bilateral cotton-wool spots and serous retinal detachment in the right eye, while the left eye had no SRF. Fluorescein angiography demonstrated multifocal leakage and pooling, and Indocyanine green angiography revealed hypocyanescent spots consistent with choroidal inflammation in the right eye. Neurological symptoms such as headache, tinnitus, or meningismus were absent throughout the entire follow-up period, and infectious serologic tests were all negative. The patient was treated with oral prednisolone 50 mg/ day without antiviral prophylaxis, which was tapered to 25 mg over four weeks. Patient’s SRF and cotton-wool spots gradually resolved with visual improvement, and no hepatitis B virus (HBV) reactivation or systemic complications occurred. Conclusions This case represents the first reported instance of Harada-like syndrome in a chronic carrier of HBV. The findings suggest a potential immunologic link between persistent HBV infection and melanocyte-targeted autoimmunity.

Objective: To evaluate the performance of supplemental automated breast ultrasound (ABUS) added to mammography-based breast cancer screening for women with nondense breasts. Materials and Methods: A retrospective search of radiology databases at two tertiary institutions identified asymptomatic women with nondense breasts who underwent breast cancer screening using both digital mammography (DM) and supplemental ABUS between January 2020 and December 2023. We excluded women without sufficient follow-up data or those without an established final diagnosis, including histopathologic results. The performance measures of DM alone and ABUS combined with DM (ABUS plus DM) were compared. The primary outcome was the cancer detection rate (CDR), and the secondary outcomes were sensitivity and specificity. Subgroup analyses were performed for women with scattered fibroglandular density and almost entirely fatty breasts. Results: A total of 2,904 pairs of screening examinations were performed in 1,683 women (59 ± 10 years), detecting 26 cancers. In comparison with DM alone, ABUS plus DM showed higher CDR (9.0 vs. 7.9 per 1,000 examinations, P < 0.001), higher sensitivity (100% [26/26] vs. 88.5% [23/26], P < 0.001), and lower specificity (95.0% [2,735/2,878] vs. 97.9% [2,817/2,878], P < 0.001). In women with scattered fibroglandular density, ABUS increased the CDR from 7.4 to 8.5 per 1,000 examinations and improved the sensitivity from 87.0% [20/23] to 100% [23/23] (P < 0.001). In women with almost entirely fatty breasts, ABUS plus DM showed the same CDR (16.4 per 1,000 examinations) and sensitivity (100% [3/3]) as DM alone. Three cancers (11.5% [3/26]), all of which were stage T1N0, were detected only by supplemental ABUS. Conclusion Supplemental ABUS improved cancer detection and sensitivity in women with nondense breasts, with the benefits primarily observed in those with scattered fibroglandular density.

Chronic invasive fungal rhinosinusitis (CIFR) is a rare subtype of invasive fungal rhinosinusitis characterized by a slow clinical course and histopathologic evidence of tissue invasion. It is distinct from noninvasive fungal ball rhinosinusitis and acute invasive fungal rhinosinusitis. The standard treatment for CIFR consists of surgical debridement combined with systemic antifungal therapy. However, systemic antifungal agents may not be feasible in certain patients because of drug-related toxicity, impaired renal function, or socioeconomic constraints. In addition, the optimal role of topical antifungal therapy in CIFR has not been clearly established. Herein, we describe two patients with diabetes mellitus who had CIFR confined to the sinonasal cavity and were managed with surgical debridement combined with topical amphotericin B application, without systemic antifungal therapy. Both patients demonstrated favorable clinical outcomes. These cases suggest that, in carefully selected patients with localized CIFR, a surgery-centered management strategy incorporating adjunctive topical amphotericin B may represent a feasible alternative when systemic antifungal therapy cannot be administered, provided that careful and prolonged follow-up is ensured.

Background: Intradialytic hypotension (IDH) is a critical complication related to worse outcomes in patients undergoing maintenance hemodialysis. Herein, we addressed the impact of IDH on mortality and other outcomes in patients with severe acute kidney injury (AKI) requiring intermittent hemodialysis. Methods: We retrospectively reviewed 1,009 patients who underwent intermittent hemodialysis due to severe AKI. IDH was defined as either dialysis discontinuation due to hemodynamic instability or a decrease in systolic blood pressure (BP) of ≥30 mmHg, with or without a nadir systolic BP of <90 mmHg during the first session. The primary outcome was all-cause mortality, and transfer to the intensive care unit (ICU) due to unstable status was additionally analyzed. Hazard ratios (HRs) of outcomes were calculated using a Cox regression model after adjusting for multiple variables. Risk factors for IDH were evaluated using a logistic regression model. Results: IDH occurred in 449 patients (44.5%) during the first hemodialysis session. Patients with IDH had a higher mortality rate than those without IDH (40% vs. 23%; HR, 1.30; 95% confidence interval [CI], 1.02–1.65). The rate of ICU transfer was higher in patients experiencing IDH than in those without IDH (17% vs. 11%; HR, 1.43; 95% CI, 1.02–2.02). Factors such as old age, high BP and pulse rate, active malignancy, cirrhosis, and hypoalbuminemia were associated with an increased risk of IDH episodes. Conclusion The occurrence of IDH is associated with worse outcomes in patients with AKI requiring intermittent hemodialysis. Therefore, careful monitoring and early intervention of IDH may be necessary in this patient subset.

Background: Cough is a prominent symptom of chronic respiratory diseases, including asthma, idiopathic pulmonary fibrosis (IPF), chronic obstructive pulmonary disease (COPD), and bronchiectasis (BE). Some patients develop chronic cough (CC), defined as lasting more than 8 weeks, yet its characteristics remain poorly understood. This study aimed to characterize CC across various chronic respiratory diseases using validated cough assessment tools. Methods: The Cough Assessment in Chronic Respiratory Diseases (COASESS) study, a multicenter, prospective cross-sectional study, was conducted at 10 university hospitals. CC was evaluated in terms of intensity (numeric rating scale [NRS]), frequency (cough symptom score [CSS]), and quality of life (using the cough assessment test [COAT] and Leicester cough questionnaire [LCQ]). Cough hypersensitivity was assessed with the cough hypersensitivity questionnaire (CHQ). Data on age, sex, and smoking status were also collected. Results: Among the 303 enrolled patients, 266 with chronic respiratory diseases were included in the analysis. Patients with asthma were younger, predominantly female, and non-smokers, whereas those with COPD and IPF were older males who had previously smoked (p<0.001). Scores for COAT, LCQ, NRS, and CSS showed significant differences across the diseases, with asthma and IPF patients experiencing a greater symptom burden and lower quality of life compared to those with COPD or BE (p<0.001). Although CHQ total scores were similar across groups, asthma patients more frequently reported triggers such as talking and post-nasal drip. Conclusion This study revealed distinct characteristics of CC across different chronic respiratory diseases. Asthma and IPF were associated with a higher symptom burden, and cough hypersensitivity varied depending on the underlying condition. These findings highlight the necessity for disease-specific assessments and management strategies for CC.