Background and Objectives: Angiographic assessment of coronary stenosis severity using quantitative coronary angiography (QCA) is often inconsistent with that based on fractional flow reserve (FFR) or intravascular ultrasound (IVUS). We investigated the incidence of discrepancies between QCA and FFR or IVUS, and the outcomes of FFR- and IVUS-guided strategies in discordant coronary lesions. Methods: This study was a post-hoc analysis of the FLAVOUR study. We used a QCA-derived diameter stenosis (DS) of 60% or greater, the highest tertile, to classify coronary lesions as concordant or discordant with FFR or IVUS criteria for percutaneous coronary intervention (PCI). The patient-oriented composite outcome (POCO) was defined as a composite of death, myocardial infarction, or revascularization at 24 months. Results: The discordance rate between QCA and FFR or IVUS was 30.2% (n=551). The QCAFFR discordance rate was numerically lower than the QCA-IVUS discordance rate (28.2% vs. 32.4%, p=0.050). In 200 patients with ≥60% DS, PCI was deferred according to negative FFR (n=141) and negative IVUS (n=59) (15.3% vs. 6.5%, p<0.001). The POCO incidence was comparable between the FFR- and IVUS-guided deferral strategies (5.9% vs. 3.4%, p=0.479).Conversely, 351 patients with DS <60% underwent PCI according to positive FFR (n=118) and positive IVUS (n=233) (12.8% vs. 25.9%, p<0.001). FFR- and IVUS-guided PCI did not differ in the incidence of POCO (9.5% vs. 6.5%, p=0.294). Conclusions The proportion of QCA-FFR or IVUS discordance was approximately one third for intermediate coronary lesions. FFR- or IVUS-guided strategies for these lesions were comparable with respect to POCO at 24 months.

Background and Objectives: Angiographic assessment of coronary stenosis severity using quantitative coronary angiography (QCA) is often inconsistent with that based on fractional flow reserve (FFR) or intravascular ultrasound (IVUS). We investigated the incidence of discrepancies between QCA and FFR or IVUS, and the outcomes of FFR- and IVUS-guided strategies in discordant coronary lesions. Methods: This study was a post-hoc analysis of the FLAVOUR study. We used a QCA-derived diameter stenosis (DS) of 60% or greater, the highest tertile, to classify coronary lesions as concordant or discordant with FFR or IVUS criteria for percutaneous coronary intervention (PCI). The patient-oriented composite outcome (POCO) was defined as a composite of death, myocardial infarction, or revascularization at 24 months. Results: The discordance rate between QCA and FFR or IVUS was 30.2% (n=551). The QCAFFR discordance rate was numerically lower than the QCA-IVUS discordance rate (28.2% vs. 32.4%, p=0.050). In 200 patients with ≥60% DS, PCI was deferred according to negative FFR (n=141) and negative IVUS (n=59) (15.3% vs. 6.5%, p<0.001). The POCO incidence was comparable between the FFR- and IVUS-guided deferral strategies (5.9% vs. 3.4%, p=0.479).Conversely, 351 patients with DS <60% underwent PCI according to positive FFR (n=118) and positive IVUS (n=233) (12.8% vs. 25.9%, p<0.001). FFR- and IVUS-guided PCI did not differ in the incidence of POCO (9.5% vs. 6.5%, p=0.294). Conclusions The proportion of QCA-FFR or IVUS discordance was approximately one third for intermediate coronary lesions. FFR- or IVUS-guided strategies for these lesions were comparable with respect to POCO at 24 months.

Background and Objectives: Angiographic assessment of coronary stenosis severity using quantitative coronary angiography (QCA) is often inconsistent with that based on fractional flow reserve (FFR) or intravascular ultrasound (IVUS). We investigated the incidence of discrepancies between QCA and FFR or IVUS, and the outcomes of FFR- and IVUS-guided strategies in discordant coronary lesions. Methods: This study was a post-hoc analysis of the FLAVOUR study. We used a QCA-derived diameter stenosis (DS) of 60% or greater, the highest tertile, to classify coronary lesions as concordant or discordant with FFR or IVUS criteria for percutaneous coronary intervention (PCI). The patient-oriented composite outcome (POCO) was defined as a composite of death, myocardial infarction, or revascularization at 24 months. Results: The discordance rate between QCA and FFR or IVUS was 30.2% (n=551). The QCAFFR discordance rate was numerically lower than the QCA-IVUS discordance rate (28.2% vs. 32.4%, p=0.050). In 200 patients with ≥60% DS, PCI was deferred according to negative FFR (n=141) and negative IVUS (n=59) (15.3% vs. 6.5%, p<0.001). The POCO incidence was comparable between the FFR- and IVUS-guided deferral strategies (5.9% vs. 3.4%, p=0.479).Conversely, 351 patients with DS <60% underwent PCI according to positive FFR (n=118) and positive IVUS (n=233) (12.8% vs. 25.9%, p<0.001). FFR- and IVUS-guided PCI did not differ in the incidence of POCO (9.5% vs. 6.5%, p=0.294). Conclusions The proportion of QCA-FFR or IVUS discordance was approximately one third for intermediate coronary lesions. FFR- or IVUS-guided strategies for these lesions were comparable with respect to POCO at 24 months.

Background and Objectives: Angiographic assessment of coronary stenosis severity using quantitative coronary angiography (QCA) is often inconsistent with that based on fractional flow reserve (FFR) or intravascular ultrasound (IVUS). We investigated the incidence of discrepancies between QCA and FFR or IVUS, and the outcomes of FFR- and IVUS-guided strategies in discordant coronary lesions. Methods: This study was a post-hoc analysis of the FLAVOUR study. We used a QCA-derived diameter stenosis (DS) of 60% or greater, the highest tertile, to classify coronary lesions as concordant or discordant with FFR or IVUS criteria for percutaneous coronary intervention (PCI). The patient-oriented composite outcome (POCO) was defined as a composite of death, myocardial infarction, or revascularization at 24 months. Results: The discordance rate between QCA and FFR or IVUS was 30.2% (n=551). The QCAFFR discordance rate was numerically lower than the QCA-IVUS discordance rate (28.2% vs. 32.4%, p=0.050). In 200 patients with ≥60% DS, PCI was deferred according to negative FFR (n=141) and negative IVUS (n=59) (15.3% vs. 6.5%, p<0.001). The POCO incidence was comparable between the FFR- and IVUS-guided deferral strategies (5.9% vs. 3.4%, p=0.479).Conversely, 351 patients with DS <60% underwent PCI according to positive FFR (n=118) and positive IVUS (n=233) (12.8% vs. 25.9%, p<0.001). FFR- and IVUS-guided PCI did not differ in the incidence of POCO (9.5% vs. 6.5%, p=0.294). Conclusions The proportion of QCA-FFR or IVUS discordance was approximately one third for intermediate coronary lesions. FFR- or IVUS-guided strategies for these lesions were comparable with respect to POCO at 24 months.

Oligodontia is the congenital absence of six or more teeth and comprises the more severe forms of tooth agenesis. Many genes have been implicated in the etiology of tooth agenesis, which is highly variable in its clinical presentation. The purpose of this study was to identify associations between genetic mutations and clinical features of oligodontia patients. An online systematic search of papers published from January 1992 to June 2021 identified 381 oligodontia cases meeting the eligibility criteria of causative gene mutation, phenotype description, and radiographic records. Additionally, ten families with oligodontia were recruited and their genetic etiologies were determined by whole-exome sequence analyses. We identified a novel mutation in WNT10A (c.99_105dup) and eight previously reported mutations in WNT10A (c.433 G > A; c.682 T > A; c.318 C > G; c.511.C > T; c.321 C > A), EDAR (c.581 C > T), and LRP6 (c.1003 C > T, c.2747 G > T). Collectively, 20 different causative genes were implicated among those 393 cases with oligodontia. For each causative gene, the mean number of missing teeth per case and the frequency of teeth missing at each position were calculated. Genotype-phenotype correlation analysis indicated that molars agenesis is more likely linked to PAX9 mutations, mandibular first premolar agenesis is least associated with PAX9 mutations. Mandibular incisors and maxillary lateral incisor agenesis are most closely linked to EDA mutations.
Humans ; Phenotype ; Wnt Proteins

BACKGROUND/AIMS: To compare the frequency of metabolic syndrome (MetS) and magnitude of insulin resistance, measured by the homeostatic model assessment of insulin resistance (HOMA-IR), between South Korean women with rheumatoid arthritis (RA) and healthy subjects, and to evaluate risk factors for MetS and increased HOMA-IR in patients with RA. METHODS: In a cross-sectional setting, 84 female patients with RA and 109 age-matched healthy female subjects were consecutively recruited at a university-affiliated rheumatology center in South Korea. MetS was defined according to the Third Report of the National Cholesterol Education Program's Adult Treatment Panel (NCEP-ATP III) 2004 criteria. RESULTS: The frequency of MetS did not differ significantly between patients with RA (19%) and healthy subjects (15.6%, p = 0.566), although patients with RA had a higher HOMA-IR compared with healthy subjects (p < 0.001). Patients with RA met the NCEP-ATP III 2004 criteria for high blood pressure more often than healthy subjects (44% vs. 19.3%, p < 0.001), and low high density lipoprotein cholesterol was more prevalent in healthy subjects (33%) than in patients with RA (14.3%, p = 0.004). Although no obvious risk factors for the presence of MetS were identified in patients with RA, higher serum C-reactive protein and disease activity score assessed using the 28-joint count for swelling and tenderness-erythrocyte sedimentation rate significantly contributed to a higher HOMA-IR. CONCLUSIONS: Despite their increased insulin resistance, South Korean women with RA did not have a significantly higher frequency of MetS compared with that in healthy subjects.
Adult ; Aged ; Arthritis, Rheumatoid/diagnosis/*epidemiology ; Biological Markers/blood ; Case-Control Studies ; Chi-Square Distribution ; Cross-Sectional Studies ; Female ; Humans ; Insulin Resistance ; Linear Models ; Logistic Models ; Metabolic Syndrome X/blood/diagnosis/*epidemiology ; Middle Aged ; Multivariate Analysis ; Odds Ratio ; Prevalence ; Republic of Korea/epidemiology ; Risk Assessment ; Risk Factors ; Sex Factors ; Young Adult

Treatments for patient with ankylosing spondylitis (AS) include non-steroidal anti-inflammatory drugs (NSAIDs), disease-modifying antirheumatic drugs (DMARDs) and anti-tumor necrosis factor-alpha (TNFalpha) agents. However, owing to the well-known nephrotoxicity of NSAIDs and some DMARDs, the use of these drugs is limited in AS patients with renal insufficiency. As the pharmacokinetics and metabolism of anti-TNFalpha agents in patients of end stage renal disease, especially those receiving peritoneal dialysis (PD), have not been investigated well, little is known about treating them with anti-TNFalpha agents. We described the safety and efficacy of etanercept, a soluble fusion protein comprising the TNF receptor 2 in linkage with the Fc portion of immunoglobulin G, in a 40-year-old male AS patient receiving PD.
Adult ; Anti-Inflammatory Agents, Non-Steroidal ; Antirheumatic Agents ; Humans ; Immunoglobulin G ; Kidney Failure, Chronic ; Male ; Metabolism ; Necrosis ; Peritoneal Dialysis* ; Pharmacokinetics ; Receptors, Tumor Necrosis Factor ; Renal Insufficiency ; Spondylitis, Ankylosing* ; Tumor Necrosis Factor-alpha ; Etanercept

OBJECTIVE: A higher prevalence of metabolic syndrome (MetS) has been described in various rheumatic diseases such as rheumatoid arthritis and systemic lupus erythematosus, but no direct studies have investigated the prevalence of MetS in systemic sclerosis (SSc) patients compared with the general population. We compared the frequency of MetS and insulin resistance, as measured by Homeostatic assessment model-insulin resistance (HOMA-IR) between female SSc patients and healthy subjects. METHODS: In a cross-sectional setting, 35 female SSc patients and 84 age and sex-matched healthy subjects were consecutively recruited at a single center of a tertiary hospital between 2009 and 2010. MetS was defined according to the National Cholesterol Education Program's Adult Treatment Panel (NCEP-ATP III) 2004 criteria, using the Asian criteria for central obesity. RESULTS: The frequency of MetS was not significantly higher in SSc patients (20.0%) than in healthy subjects (14.3%, p=0.425), but SSc patients had an increased insulin resistance measured by HOMA-IR (p=0.001). Significantly more patients with SSc had increased triglyceride concentrations (p=0.004) and fewer SSc patients tended to meet the waist circumference criterion (p=0.051) according to the individual MetS features. Additionally, there were no significant differences in age, high-sensitivity C-reactive protein, body mass index, HOMA-IR, disease duration, cumulative glucocorticoids dose, modified Rodnan skin score or the proportion of limited SSc cases according to the absence or presence of MetS in SSc patients. CONCLUSION: Unlike other rheumatic diseases, our preliminary report did not show a significant difference in the prevalence of MetS between female SSc patients and healthy subjects.
Adult ; Arthritis, Rheumatoid ; Asian Continental Ancestry Group ; Body Mass Index ; C-Reactive Protein ; Cholesterol ; Female ; Glucocorticoids ; Humans ; Insulin Resistance ; Lupus Erythematosus, Systemic ; Prevalence ; Rheumatic Diseases ; Scleroderma, Systemic ; Skin ; Tertiary Care Centers ; Waist Circumference

Mixed connective tissue disease (MCTD) was first described by Sharp and coworkers in 1972, characterized by symptoms of Raynaud's phenomenon or swollen hands, overlapping clinical features of systemic lupus erythematosus, systemic sclerosis, or polymyositis/dermatomyositis, and the presence of anti-U1 RNP antibody. MCTD is rare in children and constitutes 0.3~0.6% of all rheumatologic patients in pediatric rheumatology database of the United States. Here, we report the first Korean case of a 10-year-old female patient with MCTD, presenting Raynaud's phenomenon in the hands, feet, and tongue.
Child ; Female ; Foot ; Hand ; Humans ; Lupus Erythematosus, Systemic ; Mixed Connective Tissue Disease ; Rheumatology ; Scleroderma, Systemic ; Tongue ; United States