Intravascular Laser Blood Irradiation (ILIB) Enhances Antioxidant Activity and Energy Metabolism in Aging Ovaries.

BACKGROUND: Ovarian aging is characterized by the accumulation of free radicals, leading to tissue damage and affecting reproductive health. Intravascular laser irradiation of blood (ILIB, using a low-energy He-Ne laser) is known for its efficacy in treating vascular-related diseases by reducing free radicals and inflammation. However, its impact on ovarian aging remains unexplored. This study aimed to investigate the effects of ILIB on oxidative stress and energy metabolism in aging ovaries. METHODS: Genetic analysis was conducted on 75 infertile patients with aging ovaries, divided into ILIB-treated and control (CTRL) groups. Patients underwent two courses of laser treatment, and clinical parameters were evaluated. Cumulus cells were collected for the genetic analysis of oxeiptosis, glycolysis, and the tricarboxylic acid (TCA) cycle. RESULTS: The analysis of gene expression patterns revealed intriguing findings in ILIB-treated patients compared to the untreated group. Notably, ILIB treatment resulted in significant upregulation of oxeiptosis-related genes AIFM1 and NRF2, suggesting a potential protective effect against oxidative stress-induced cell death. Furthermore, ILIB treatment led to a downregulation of glycolysis-associated gene hexokinase 2 (HK2), indicating a shift away from anaerobic metabolism, along with an increase in PDHA levels, indicative of enhanced mitochondrial function. Consistent with these changes, ILIB-treated patients exhibited elevated expression of the key TCA cycle genes citrate synthase (CS), succinate dehydrogenase complex subunit A (SDHA), and fumarate hydratase (FH), signifying improved energy metabolism. CONCLUSION: The findings from this study underscore the potential of ILIB as a therapeutic strategy for mitigating ovarian aging. By targeting oxidative stress and enhancing energy metabolism, ILIB holds promise for preserving ovarian function and reproductive health in aging individuals. Further research is warranted to elucidate the underlying mechanisms and optimize the application of ILIB in clinical settings, with the ultimate goal of improving fertility outcomes in women experiencing age-related ovarian decline.

Pilot Study on Next-Generation Sequencing Analysis of Vaginal Microbiota in Clinically Infertile Patients Treated with Probiotics.

Background: In this investigation, we aimed to understand the influence of oral probiotic supplementation on the vaginal microbiota of women preparing for assisted reproductive technology (ART) procedures. Given the importance of a healthy microbiome for reproductive success, this study sought to explore how probiotics might alter the bacterial composition in the vaginal environment. Methods: We recruited a cohort of 30 women, averaging 37 years of age (ranging from 31 to 43 years), who were scheduled to undergo ART. Using 16S ribosomal RNA (rRNA) sequencing, we meticulously analyzed the vaginal microbiota composition before and after the administration of oral probiotic supplements. Results: Our analysis identified 17 distinct microorganisms, including 8 species of Lactobacillus. Following probiotic supplementation, we observed subtle yet notable changes in the vaginal microbiota of some participants. Specifically, there was a decrease in Gardnerella abundance by approximately 20%, and increases in Lactobacillus and Bifidobacterium by 10% and 15%, respectively. Additionally, we noted a significant reduction in the Firmicutes/Bacteroidetes (F/B) ratio in the probiotic group, indicating potential shifts in the overall bacterial composition. Conclusions: These preliminary findings suggest that oral probiotic supplementation can induce significant changes in the vaginal microbiota of middle-aged women undergoing ART, potentially improving their overall bacterial profile. Future studies should consider a larger sample size and a narrower age range to validate these results. Investigating factors related to female hormone production could also provide deeper insights. Understanding the effects of probiotics on the vaginal microbiota in patients with ovarian aging may lead to personalized interventions and better reproductive outcomes.

Development and verification of a novel bone collector with automatic size separating function for orthopedics surgery.

BACKGROUND: Autologous bone dust can be filled in bone defects to promote effective bone healing but typically it is lost when using suction during surgery. The aim of this study was to develop a novel bone collector that can be used to collect bone chips/dust of varying sizes without changing current surgical procedures. RESEARCH DESIGN AND METHODS: This collector was designed to connect to a surgical continuous suction system and comprised a plate filter with a 3 mm hole and featured a taper filter with a mesh size of 0.27 mm for the separation and collection of both coarse and fine bone chips/dust. The bone collector was manufactured using nylon 3D printing and plastic injection with biocompatible materials. RESULTS: The bone collector functional test revealed high bone chip collection efficiency (93%) with automatic size separation function. Low (3.42%) filtration errors showed that most of the water can be drained smoothly from the bone collector. In clinical usability testing, bone collectors can provide functions demonstrated in in vivo spinal fusion and femoral fracture surgeries with different bone grafting size requirements. CONCLUSIONS: The novel bone collector has been validated as a viable and effective surgical device, offering surgeons an additional option to enhance patient outcomes.

Spatial and Single-Cell Investigations Illuminate Theragnostic value and Immune Landscape of Mitochondrial Dynamin-Like GTPase in Breast Cancer.

Background: As we delve into the intricate world of mitochondrial inner membrane proteins, particularly Optic Atrophy types 1 and 3 (OPA1/3), we uncover their pivotal role in maintaining mitochondrial dynamic equilibrium and fusion, crucial for cellular energy production and synthesis. Despite extensive scrutiny, the significance of OPA1/3 in breast cancer (BRCA) and its interplay with the immune microenvironment remain elusive. Materials and Methods: We meticulously sourced BRCA data from renowned repositories such as The Cancer Genome Atlas (TCGA), Genotype-Tissue Expression (GTEx), Gene Expression Omnibus (GEO), and the Human Protein Atlas (HPA), leveraging cutting-edge techniques including single-cell RNA-sequencing (scRNA-seq), spatial transcriptomics, and pharmacogenomics. Through multifaceted data analysis, we endeavored to unravel the intricate role and potential value of OPA1/3 in BRCA tumorigenesis and progression. Results: Our investigation reveals a conspicuous upregulation of OPA1/3 expression in BRCA, correlating with dismal prognoses. Kaplan-Meier plot analysis underscores that heightened OPA1/3 levels are associated with poor survival rates. Both clinical specimens and biobank biopsies corroborate the elevated expression of OPA1/3 in breast cancer patients. Moreover, scRNA-seq unveils a strong correlation between OPA1/3 and macrophage infiltration in the BRCA immune milieu, alongside its association with the cellular communication network involving CXCL, TGFb, VEGF, and IL16. Conclusion: In light of these findings, OPA1/3 emerges as a promising contender for therapeutic targeting and as a potential diagnostic, prognostic, and survival biomarker in BRCA. The implications of our study underscore the pressing need to explore these novel biomarkers to enhance patient outcomes.

Multi-omic profiling of breast tumor microenvironment uncovers a role of mitochondrial calcium gatekeepers.

In this study, we aimed to elucidate the role of mitochondrial calcium uptake 1/2 (MiCU1/2) in breast cancer (BRCA) by employing a comprehensive multi-omics approach. Unlike previous research, we utilized a novel web application tailored for whole tumor tissue, single-cell, and spatial transcriptomics analysis to investigate the association between MiCU1/2 and the tumor immune microenvironment (TIME). Our gene set enrichment analysis (GSEA) provided insights into the primary biological effects of MiCU1/2, while our CRISPR-based drug screening repository identified potential effective drugs. Our study revealed that high MiCU1/2 expression serves as an independent diagnostic biomarker, correlating with advanced clinical status and indicating poorer recurrence-free survival (RFS) rates in BRCA patients. Additionally, spatial transcriptome analysis highlighted the heightened expression of MiCU1/2 in tumors and its relevance in surrounding immune cells. Furthermore, using the CIBERSORT algorithm, we discovered a positive correlation between MiCU1/2 levels and macrophage infiltration, underscoring their potential impact on immune infiltration. We also identified expression patterns of immune-related genes associated with responses against various immune cell types, including CXCL, MIF, GDF, SPP1, and IL16. Finally, our pharmacogenomic screening identified potential small molecule drugs capable of effectively targeting breast cancer cells with elevated MiCU1/2 expression. Overall, our study establishes MiCU1/2 as a promising novel biomarker for BRCA diagnosis and prognostic prediction, as well as a potential therapeutic target, highlighting the importance of exploring these pathways to advance patient care and outcomes in BRCA treatment.

Correction: Valuation of the EQ-5D-5L in Taiwan.

[This corrects the article DOI: 10.1371/journal.pone.0209344.].

Application of near-infrared-to-blue upconversion luminescence for the polymerization of resin cements through zirconia discs.

OBJECTIVES: To investigate a near-infrared-to-blue luminescence upconversion curing method for polymerizing resin cements under zirconia discs. METHODS: Lava zirconia discs of different thicknesses (0.5-2.0 mm) were manufactured. First, the transmittances of the NIR and two blue lights (BLs) (LED and halogen lights) through these discs were measured. Second, NaYF4:Yb3+/Tm3+ upconversion phosphor (UP) powder was milled into 0.5-µm particle sizes. A light-curable resin cement VariolinkII base was chosen as the control (UP0), and an experimental cement (UP5) was prepared by adding 5 % UPs. These two cements were examined using multiphoton excitation microscopy for particle distribution. UP5 and UP0 were polymerized with or without zirconia shielding then subjected to a microhardness test. A multifold analysis was performed to examine the effects of zirconia thickness, curing protocols (pure BL or combined BL and NIR curing), and cement type. RESULTS: The transmittance of NIR was superior to that of BL through zirconia discs of all thicknesses. UP particles were homogeneously distributed in UP5 and emitted blue luminescence under 980-nm NIR excitation. UP5 showed higher microhardness values than UP0 under any curing protocol or zirconia shielding condition. The combination of 20-s BL and 40-s NIR curing yielded the highest microhardness in uncovered UP5. However, combining 40-s BL and 20-s NIR curing surpassed the other groups when the zirconia discs were thicker than 0.5 mm. SIGNIFICANCE: NIR exhibits higher transmission through zirconia than BL. UP particles work as strengthen fillers and photosensitizers in cements. NIR upconversion curing could be a new strategy for polymerizing resin cements under thick zirconia restorations.

The impact of ZTE-based MR attenuation correction compared to CT-AC in 18F-FBPA PET before boron neutron capture therapy.

Tumor-to-normal ratio (T/N) measurement of 18F-FBPA is crucial for patient eligibility to receive boron neutron capture therapy. This study aims to compare the difference in standard uptake value ratios on brain tumors and normal brains using PET/MR ZTE and atlas-based attenuation correction with the current standard PET/CT attenuation correction. Regarding the normal brain uptake, the difference was not significant between PET/CT and PET/MR attenuation correction methods. The T/N ratio of PET/CT-AC, PET/MR ZTE-AC and PET/MR AB-AC were 2.34 ± 0.95, 2.29 ± 0.88, and 2.19 ± 0.80, respectively. The T/N ratio comparison showed no significance using PET/CT-AC and PET/MR ZTE-AC. As for the PET/MRI AB-AC, significantly lower T/N ratio was observed (- 5.18 ± 9.52%; p < 0.05). The T/N difference between ZTE-AC and AB-AC was also significant (4.71 ± 5.80%; p < 0.01). Our findings suggested PET/MRI imaging using ZTE-AC provided superior quantification on 18F-FBPA-PET compared to atlas-based AC. Using ZTE-AC on 18F-FBPA-PET /MRI might be crucial for BNCT pre-treatment planning.

Investigating adherence to tyrosine kinase inhibitors in renal cancer.

INTRODUCTION: Tyrosine kinase inhibitors (TKIs) have been used as the first-line treatment for many patients with renal cell carcinoma (RCC), the seventh most common cancer in the United Kingdom. However, suboptimal adherence to TKIs can result in poor clinical prognosis. This study quantified RCC patients' adherence to TKIs and explored factors associated with suboptimal adherence. METHOD: This retrospective cohort study was conducted at a specialist oncology tertiary hospital in Northwest England, using pharmacy dispensing records between November 2021 and March 2022. TKI prescriptions dispensed to patients with RCC were extracted to calculate the persistency gaps (≥7 or ≥14 days) and medication possession ratio (MPR). Multilevel regression analysis was conducted to associate MPR and persistency gaps with specific patient-related and TKI-related factors. This study did not require ethics approval. RESULTS: Of the 2225 prescriptions dispensed to 109 patients, 469 (23.4%) and 274 (13.7%) persistency gaps of ≥7 and ≥14 days were identified. About 75% and 92% of patients had a persistency gap of ≥7 days within the first 90 days and 180 days. The length of time since the first TKI prescription (p < 0.001) and the use of sunitinib(p = 0.003) were significantly associated with the number of prescription gaps of ≥7 days. Moreover, the median MPR was 95.6% (interquartile range: 90.7%, 100.1%). Similarly, the length of time since the first TKI prescription was dispensed (p < 0.001) and the use of sunitinib (p = 0.034) were significantly associated with MPR. DISCUSSION AND CONCLUSION: This single-centre study found that patients with RCC generally adhere to TKIs (MPR > 90%), but many patients experienced a persistency gap. The crucial window to mitigate TKI utilisation is within 180 days after the initial dispensing of TKIs. Further large-scale studies are required to comprehensively investigate other factors associated with adherence to TKIs and develop interventions to improve adherence and medication use problems.

Addressing causal relationship between drinking behavior and metabolic syndrome: one-sample Mendelian randomization analysis.

AIMS: Alcohol drinking is associated with central obesity, hypertension, and hyperlipidemia, which further causes metabolic syndrome (MetS). However, prior epidemiological studies on such associations lack experimental evidence for a causal relationship. This study aims to explore the causal relationship between drinking behavior and MetS in Taiwan population by using Mendelian randomization (MR) analysis. METHODS: A cross-sectional study was conducted using the Taiwan Biobank database, which comprised 50 640 Han Chinese who were 30-70 years old without cancer from 2008 to 2020. In MR analysis, we constructed weighted and unweighted genetic risk scores by calculating SNP alleles significantly associated with alcohol drinking. We calculated odds ratios and 95% confidence interval (CI) by using a two-stage regression model. RESULTS: A total of 50 640 participants were included with a mean age of 49.5 years (SD: 1.67 years), 36.6% were men. The adjusted odds ratio (aOR) of MetS per 5% increase in the likelihood of genetic predisposition to drink based on weighted genetic risk score with adjustment was 1.11 (95% CI: 1.10, 1.12, P < .001). Analysis was also conducted by grouping the likelihood of genetic predisposition to drink based on quartiles with multivariate adjustment. Using Q1 as the reference group, the aORs of MetS for Q2, Q3, and Q4 were 1.19 (1.12, 1.27, p < .001), 1.31 (1.23, 1.40, p < .001), and 1.87 (1.75, 2.00, p < .001), respectively, for the weighted genetic risk score. CONCLUSIONS: This study shows a modest relationship between drinking behavior and MetS by using MR analysis.

Assessments of polymerization shrinkage by optical coherence tomography-based digital image correlation analysis-Part II: Effects of restorative composites.

OBJECTIVES: To examine the polymerization shrinkage of different resin-based composite (RBC) restorations using optical coherence tomography (OCT) image-based digital image correlation (DIC) analysis. METHODS: The refractive index (RI) of three RBCs, Filtek Z350XT (Z350), Z350Flowable (Z350F), and BulkFill Posterior (Bulkfill), was measured before and after polymerization to calibrate their axial dimensions under OCT. Class I cavities were prepared in bovine incisors and individually filled with these RBCs under nonbonded and bonded conditions. A series of OCT images of these restorations were captured during 20-s light polymerization and then input into DIC software to analyze their shrinkage behaviors. The interfacial adaptation was also examined using these OCT images. RESULTS: The RI of the three composites ranged from 1.52 to 1.53, and photopolymerization caused neglectable increases in the RI values. For nonbonded restorations, Z350F showed maximal vertical displacements on the top surfaces (-16.75 µm), followed by Bulkfill (-8.81 µm) and Z350 (-5.97 µm). In their bonded conditions, all showed increased displacements. High variations were observed in displacement measurements on the bottom surfaces. In the temporal analysis, the shrinkage of nonbonded Z350F and Bulkfill decelerated after 6-10 s. However, Z350 showed a rebounding upward displacement after 8.2 s. Significant interfacial gaps were found in nonbonded Z350 and Z350F restorations. SIGNIFICANCE: The novel OCT image-based DIC analysis provided a comprehensive examination of the shrinkage behaviors and debonding of the composite restorations throughout the polymerization process. The flowable composite showed the highest shrinkage displacements. Changes in the shrinkage direction may occur in nonbonded conventional composite restorations.

Examining the Effects of Nutrient Supplementation on Metabolic Pathways via Mitochondrial Ferredoxin in Aging Ovaries.

As women age, oocytes are susceptible to a myriad of dysfunctions, including mitochondrial dysfunction, impaired DNA repair mechanisms, epigenetic alterations, and metabolic disturbances, culminating in reduced fertility rates among older individuals. Ferredoxin (FDX) represents a highly conserved iron-sulfur (Fe-S) protein essential for electron transport across multiple metabolic pathways. Mammalian mitochondria house two distinct ferredoxins, FDX1 and FDX2, which share structural similarities and yet perform unique functions. In our investigation into the regulatory mechanisms governing ovarian aging, we employed a comprehensive multi-omics analysis approach, integrating spatial transcriptomics, single-cell RNA sequencing, human ovarian pathology, and clinical biopsy data. Previous studies have highlighted intricate interactions involving excessive lipid peroxide accumulation, redox-induced metal ion buildup, and alterations in cellular energy metabolism observed in aging cells. Through a multi-omics analysis, we observed a notable decline in the expression of the critical gene FDX1 as ovarian age progressed. This observation prompted speculation regarding FDX1's potential as a promising biomarker for ovarian aging. Following this, we initiated a clinical trial involving 70 patients with aging ovaries. These patients were administered oral nutritional supplements consisting of DHEA, ubiquinol CoQ10, and Cleo-20 T3 for a period of two months to evaluate alterations in energy metabolism regulated by FDX1. Our results demonstrated a significant elevation in FDX1 levels among participants receiving nutritional supplementation. We hypothesize that these nutrients potentiate mitochondrial tricarboxylic acid cycle (TCA) activity or electron transport chain (ETC) efficiency, thereby augmenting FDX1 expression, an essential electron carrier in metabolic pathways, while concurrently mitigating lipid peroxide accumulation and cellular apoptosis. In summary, our findings underscore the potential of nutritional intervention to enhance in vitro fertilization outcomes in senescent cells by bolstering electron transport proteins, thus optimizing energy metabolism and improving oocyte quality in aging women.

Association of echocardiographic parameters with all-cause and cardiovascular mortality in patients with type 2 diabetes.

BACKGROUND: This study aimed to evaluate associations between echocardiography markers and mortality in patients with type 2 diabetes mellitus (T2DM). METHODS: Diabetes Care Management Program database of a medical center was used, including 5612 patients with T2DM aged 30 years and older and who underwent echocardiography assessment between 2001 and 2021. Cox proportional hazard regression models were used to evaluate associations of echocardiography abnormalities with all-cause and expanded cardiovascular disease (CVD) mortality. RESULTS: During a mean follow-up of 5.8 years, 1273 patients died. Hazard ratios (95% confidence intervals) of all-cause mortality for each standard deviation increase were presented for the cardiac systolic function indicator of left ventricular ejection fraction (0.77, 0.73-0.81), cardiac structural parameters of left ventricular mass index (1.25, 1.19-1.31) and left atrial volume index (1.31, 1.25-1.37), and cardiac diastolic function of E/A ratio (1.10, 1.07-1.13), E/e' ratio (1.37, 1.30-1.45), and TR velocity (1.25, 1.18-1.32); meanwhile, the values of expanded CVD mortality included left ventricular ejection fraction (0.67, 0.62-0.72), left ventricular mass index (1.35, 1.25-1.45), left atrial volume index (1.40, 1.31-1.50), E/A ratio (1.12, 1.08-1.16), E/e' ratio (1.57, 1.46-1.69), and TR velocity (1.29, 1.19-1.39), respectively. CONCLUSIONS: Cardiac systolic function indicator of left ventricular ejection fraction, cardiac structural parameters of left ventricular mass index and left atrial volume index, and cardiac diastolic function indicators of E/A ratio, E/e' ratio, and TR velocity are associated with all-cause and expanded CVD mortality in patients with T2DM.

Comparison of Mini Nutritional Assessment Tool and Geriatric Nutrition Risk Index in Predicting 12-Y Mortality Among Community-Dwelling Older Persons.

BACKGROUND: Malnutrition is a common and dangerous condition in older adults, which has been associated with increased risk of mortality. OBJECTIVES: This study aimed to evaluate and compare the abilities of Mini Nutritional Assessment short form (MNA-SF), MNA full form (MNA-FF), and geriatric nutritional risk index (GNRI) to predict all-cause and expanded cardiovascular disease (CVD)-related mortality in community-dwelling older adults. METHODS: This research was an observational cohort study conducted in a community setting, with a 12-y follow-up involving 1001 community-living older adults aged 65 y or older who were enrolled in 2009 and followed up until 2021. Nutritional status assessment was carried out in 2009 using MNA-SF, MNA-FF, and GNRI. Multivariate Cox proportional hazards regression was applied to determine adjusted hazard ratios of mortality with 95% CIs. RESULTS: A total of 368 deaths (36.76%) and 122 expanded CVD-related deaths (12.19%) were observed after a median follow-up of 12 y. Compared with normal nutritional status, poor nutritional status assessed by the MNA-SF, MNA-FF, and GNRI was found to be associated with an increased all-cause mortality in older persons. MNA-SF and MNA-FF, but not GNRI, were associated with expanded CVD-related mortality. The MNA-FF showed better discriminatory accuracy for all-cause (C-statistics: 0.77; 95% CI: 0.63, 0.79) and expanded CVD-related mortality (C-statistics: 0.79; 95% CI: 0.70, 0.83) than MNA-SF (C-statistics: 0.76; 95% CI: 0.73-0.79; and C-statistics: 0.76; 95% CI: 0.72-0.81, respectively) and GNRI (C-statistics: 0.75; 95% CI: 0.73-0.79; and C-statistics: 0.76; 95% CI: 0.72-0.80, respectively). CONCLUSIONS: Our findings indicate that MNA-SF, MNA-FF, and GNRI were all independent predictors of all-cause mortality. In particular, the MNA-FF may be the best nutritional assessment tool for predicting all-cause and CVD-related mortality among older persons residing in community, compared with MNA-SF and GNRI.

Radiocontrast medium induces histamine release in association with upregulation of miR­19a­3p and miR­362­3p expression.

In Taiwan, the use of radiocontrast medium for clinical image diagnosis recently surpassed one million times and the overall prevalence of radiocontrast hypersensitivity was ~7%. A microRNA (miRNA/miRs) is a small non-coding RNA molecule that mostly plays a suppressor role in cells. However, the roles of miRNA expression in radiocontrast-induced mast cells activation remains to be elucidated. The aim of the present study was to investigate the role of miRNA on radiocontrast-induced mast cell activation. Computed tomography radiocontrast, ultravist and mouse mast cell line, P815, were used in the present study. Cell viability was detected by CCK-8 experiment. Levels of histamine and ß-hexosaminidase were measured by ELISA. miRNA expression was detected by miRNA sequencing and reverse transcription-quantitative PCR. The results showed that ultravist could increase histamine release and reduce intracellular ß-hexosaminidase levels of mast cells. A total of 102 miRNAs could be significantly upregulated by ultravist stimulation. Selected candidate miRNAs for the validation included miR-19a-3p and miR-362-3p which were also increased expression following stimulation with ultravist. In conclusion, ultravist could induce mast cell activation through upregulation of miR-19a-3p and miR-362-3p. Thus, miR-19a-3p and miR-362-3p could be promising candidates for development as novel targets for preventing radiocontrast-induced allergy in the future.

Development and validation of a geriatric depression knowledge scale for older adults with depression.

Poor adherence to antidepressants increases the risk of suicide, while greater mental health awareness promotes seeking appropriate treatment, highlighting the urgent need to assess depression knowledge. This study aimed to develop and assess the psychometrics of a Geriatric Depression Knowledge Scale (GDKS) for older adults with depression. In phase 1, 18 items were generated through an intensive literature review and clinical experiences. Phase 2 involved assessing content and face validities of the GDKS. In phase 3, a cross-sectional study (206 older adults, 100 psychiatric professionals) determined construct validity, internal consistency, and test-retest reliability. GDKS demonstrated excellent content and face validity. Older participants scored significantly lower than psychiatric professionals, confirming excellent construct validity. Reliability was evident with a Kuder-Richardson formula 20 score of 0.72 and a 4-week test-retest reliability of 0.86 (p < 0.01). The GDKS provides a reliable tool for evaluating geriatric depression knowledge in psychiatric outpatient settings.

Demographics and medical burden of osteogenesis imperfecta: a nationwide database analysis.

The epidemiological data on osteogenesis imperfecta (OI) in Asia is limited. This study, representing the first comprehensive epidemiological investigation on OI in Taiwan, reveals high medical resource utilization and underscores the importance of early diagnosis to enhance care quality. INTRODUCTION: This study examines osteogenesis imperfecta, a hereditary connective tissue disorder causing pediatric fractures and limb deformities, using a nationwide database from Taiwan to analyze clinical features and medical burden. METHODS: The study identified validated OI patients from the Catastrophic Illness Registry in the National Health Insurance Research Database from 2008 to 2019. Demographic data and medical resource utilization were analyzed. A multivariate Cox model assessed the influence of sex, validation age, and comorbidities. RESULTS: 319 OI patients (M/F = 153/166) were identified, with 58% validated before age 20. Prevalence and incidence were 0.8-1.3/100,000 and 0.02-0.09/100,000, respectively, with higher rates in the pediatric demographic. In the study period, 69.6% of the patients had admission history, primarily to pediatric and orthopedic wards. The median admission number was 3, with a median length of stay of 12 days and a median inpatient cost of approximately 3,163 USD during the period. Lower limb fractures were the main reason for hospitalization. 57% of OI patients received bisphosphonate treatment. The leading causes of mortality were OI-related deaths, neurovascular disease, and cardiovascular disease. The median age of validation in the non-survival group was significantly higher compared to the survival group (33 vs. 14 years), and patients validated during childhood required more inpatient fracture surgeries than those validated during adulthood. CONCLUSION: This study provides comprehensive real-world evidence on the clinical characteristics and high medical resource utilization of OI patients in a low prevalence region like Taiwan. Early diagnosis is crucial for improving care quality and enhancing health outcomes.