Programmed Follow-up and Quality Control of Treatment Techniques Enhance Chronic Thromboembolic Pulmonary Hypertension Management: Lessons From a Multidisciplinary Team.

BACKGROUND AND OBJECTIVES: The recent developments in chronic thromboembolic pulmonary hypertension (CTEPH) are emphasizing the multidisciplinary team. We report on the changes in clinical practice following the development of a multidisciplinary team, based on our 7 years of experience. METHODS: Multidisciplinary team was established in 2015 offering both balloon pulmonary angioplasty (BPA) and pulmonary endarterectomy (PEA) with technical upgrades by internal and external expertise. For operable cases, PEA was recommended as the primary treatment modality, followed by pulmonary angiography and right heart catheterization after 6 months to evaluate treatment effect and identify patients requiring further BPA. For patients with inoperable anatomy or high surgical risk, BPA was recommended as the initial treatment modality. Patient data and clinical outcomes were closely monitored. RESULTS: The number of CTEPH treatments rapidly increased and postoperative survival improved after team development. Before the team, 38 patients were treated by PEA for 18 years; however, 125 patients were treated by PEA or BPA after the team for 7 years. The number of PEA performed was 64 and that of BPA 342 sessions. World Health Organization functional class I or II was achieved in 93% of patients. The patients treated with PEA was younger, male dominant, higher pulmonary artery pressure, and smaller cardiac index, than BPA-only patients. In-hospital death after PEA was only 1 case and none after BPA. CONCLUSIONS: The balanced development of BPA and PEA through a multidisciplinary team approach proved synergistic in increasing the number of actively treated CTEPH patients and improving clinical outcomes.

Endovascular Treatment for Peripheral Pulmonary Arterial Stenosis in RNF213-Related Vasculopathy.

This brief report reviews the clinical, procedural, and imaging data of seven patients with p.Arg4810Lys variant of the ring finger protein 213 gene (RNF213)-related peripheral pulmonary arterial stenosis (PPAS) who underwent percutaneous transluminal pulmonary angioplasties (PTPAs) for demographics, clinical presentation, indications for BPA, and procedural and clinical outcomes. During median follow-up of 64.4 months since the first confirmed diagnosis, PTPA was performed for 62 segmental pulmonary arteries with 38 sessions of the procedure in seven patients. Vascular stent placement due to resistance to balloon dilatation and immediate elastic recoil was performed in 48/62 procedures (77%). Except for one death, six patients showed an improvement of dyspnea, five patients a decrease of mean pulmonary arterial pressure (mean 55.5 to 42.7mmHg) and increase of 6-minute walk distance (mean 415.5 to 484.3m). Reperfusion edema occurred in 4 out of 7 patients (57%), which is 6 out of 38 sessions (16%).

Evaluation of pulse oximeter at the nasal septum during general anesthesia: comparison with finger oximeter.

PURPOSE: Though the finger is generally recommended for pulse oxygen saturation (SpO2) monitoring site, its reliability may be compromised in conditions of poor peripheral perfusion. Therefore, we compared the performance of nasal septum SpO2 monitoring with finger SpO2 monitoring relative to simultaneous arterial oxygen saturation (SaO2) monitoring in generally anesthetized patients. METHODS: In 23 adult patients, comparisons of SpO2 measured at the nasal septum and finger with simultaneous SaO2 were made at four time points during the 90 min study period. A pulse oximetry monitoring failure was defined as a > 10 s continuous failure of in an adequate SpO2 data acquisition. Core temperature as well as finger-tip and nasal septum temperatures were simultaneously measured at 10 min intervals. RESULTS: A total of 92 sets of SpO2 and SaO2 measurements were obtained in 23 patients. The bias and precision for SpO2 measured at the nasal septum were - 0.8 ± 1.3 (95% confidence interval: - 1.1 to - 0.6), which was similar to those for SpO2 measured at the finger (- 0.6 ± 1.4; 95% confidence interval: - 0.9 to - 0.4) (p = 0.154). Finger-tip temperatures were consistently lower than other two temperatures at all time points (p < 0.05), reaching 33.5 ± 2.3 °C at 90 min after induction of anesthesia. While pulse oximetry monitoring failure did not occur for nasal septum probe, two cases of failure occurred for finger probe. CONCLUSIONS: Considering the higher stability to hypothermia with a similar accuracy, nasal septum pulse oximetry may be an attractive alternative to finger pulse oximetry. Trail registration This study was registered with Clinical Research Information Service (CRIS: https://cris.nih.go.kr/cris/en/ ; ref: KCT0008352).

Usefulness of cardiopulmonary exercise test combined with exercise stress echocardiography in mild chronic thromboembolic pulmonary disease.

PURPOSE: Chronic thromboembolic pulmonary disease (CTEPD) can lead to exercise limitations even without right ventricular (RV) dysfunction or pulmonary hypertension at rest. Combining exercise stress echocardiography with cardiopulmonary exercise testing (ESE-CPET) for RV function and pressure changes combined measuring overall function may be useful for CTEPD evaluation. This study aims to investigate CPET and ESE results to elucidate the mechanisms of exercise limitation in mild CTEPD cases. METHODS: Among our CTEPD registry, 50 patients who performed both right heart catheterization data of mild disease (less than 30 mm Hg of mean pulmonary arterial pressure (mPAP)) and ESE-CPET were enrolled. Echocardiography and CPET-derived parameters were compared with hemodynamic parameters measured through right heart catheterization. RESULTS: Peak VO2 (maximal oxygen consumption) was decreased in overall population (71.3 ± 16.3% of predictive value). Peak VO2 during exercise was negatively correlate with mPAP and pulmonary vascular resistance at rest. A substantial increase in RV systolic pressure (RVSP) was observed during exercise (RVSP: pre-exercise 37.2 ± 11.8 mm Hg, postexercise 64.3 ± 24.9 mm Hg, p-value < .001). Furthermore, RV function deteriorated during exercise when compared to the baseline (RV fractional area change: 31.5 ± 10.0% to 37.8 ± 7.0%, p-value < .001; RV global longitudinal strain: -17.1 ± 4.2% to -17.7 ± 3.3%, p-value < .001) even though basal RV function was normal. While an excessive increase in RVSP during exercise was noticed in both groups, dilated RV and RV dysfunction during exercise were demonstrated only in the impaired exercise capacity group. CONCLUSION: CTEPD patients with mild PH or without PH exhibited limited exercise capacity alongside an excessive increase in RVSP during exercise. Importantly, RV dysfunction during exercise was significantly associated with exercise capacity. ESE-CPET could aid in comprehending the primary cause of exercise limitation in these patients.

Overcoming challenges associated with identifying FBN1 deep intronic variants through whole-genome sequencing.

BACKGROUND: Marfan syndrome (MFS), caused by pathogenic variants of FBN1 (fibrillin-1), is a systemic connective tissue disorder with variable phenotypes and treatment responsiveness depending on the variant. However, a significant number of individuals with MFS remain genetically unexplained. In this study, we report novel pathogenic intronic variants in FBN1 in two unrelated families with MFS. METHODS: We evaluated subjects with suspected MFS from two unrelated families using Sanger sequencing or multiplex ligation-dependent probe amplification of FBN1 and/or panel-based next-generation sequencing. As no pathogenic variants were identified, whole-genome sequencing was performed. Identified variants were analyzed by reverse transcription-PCR and targeted sequencing of FBN1 mRNA harvested from peripheral blood or skin fibroblasts obtained from affected probands. RESULTS: We found causative deep intronic variants, c.6163+1484A>T and c.5788+36C>A, in FBN1. The splicing analysis revealed an insertion of in-frame or out-of-frame intronic sequences of the FBN1 transcript predicted to alter function of calcium-binding epidermal growth factor protein domain. Family members carrying c.6163+1484A>T had high systemic scores including prominent skeletal features and aortic dissection with lesser aortic dilatation. Family members carrying c.5788+36C>A had more severe aortic root dilatation without aortic dissection. Both families had ectopia lentis. CONCLUSION: Variable penetrance of the phenotype and negative genetic testing in MFS families should raise the possibility of deep intronic FBN1 variants and the need for additional molecular studies. This study expands the mutation spectrum of FBN1 and points out the importance of intronic sequence analysis and the need for integrative functional studies in MFS diagnosis.

Multiagent Q-Learning-Based Mobility Management for Multi-Connectivity in mmWAVE Cellular Systems.

Effective mobility management is crucial for efficient operation of next-generation cellular systems in the millimeter wave (mmWave) band. Massive multiple-input-multiple-output (MIMO) systems are seen as necessary to overcome the significant path losses in this band, but the highly directional beam makes the channels more susceptible to radio link failures due to blockages. To meet stringent capacity and reliability requirements, multi-connectivity has attracted significant attention. This paper proposes a multiagent distributed Q learning-based mobility management scheme for multi-connectivity in mmWave cellular systems. A hierarchical structure is adopted to address the model complexity and speed up the learning process. The performance is assessed using a realistic measurement data set collected from Wireless Insite in an urban area and compared with independent Q learning and a heuristic scheme in terms of handover probability and spectral efficiency.

Comparison of high-flow nasal cannula and conventional nasal cannula during sedation for endoscopic submucosal dissection: a retrospective study.

Background: The high-flow nasal cannula (HFNC) is a relatively recent method that provides high-flow, heated, humidified gas delivery. Objectives: We compared HFNC (group HF) and conventional nasal cannula (NC) (group CO) during deep sedation with propofol and remifentanil for endoscopic submucosal dissection (ESD). Design: Single-center, retrospective observational cohort study. Methods: In this study, a total of 159 cases were analyzed (group CO, 71 and group HF, 88). We collected the data from electronic medical records from September 2020 to June 2021. The lowest oxygen saturation (SpO2), incidence of hypoxia (SpO2 < 90%), rescue interventions, and adverse events between the two groups were investigated. Results: There were significant differences between the two groups in lowest SpO2 and incidence of hypoxia [group CO versus group HF; 90.3 ± 9.7% versus 95.7 ± 9.0%, 25 (35.2%) versus 10 (11.4%); p < 0.001, p < 0.001; respectively]. Among the rescue interventions, the number of jaw thrust, patient stimulation, O2 flow increase, and nasal airway insertion were significantly higher in the CO group than in the HF group. However, postprocedural chest X-ray showed higher rates of abnormal findings (atelectasis, aspiration, and pneumoperitoneum) in group HF than in group CO [group CO: 8 (11.3%) versus group HF: 26 (29.5%), p = 0.005]. In multivariable analysis, besides group CO, difficult type of lesion was the risk factor for hypoxia. Conclusions: Compared to the conventional NC, HFNC provided adequate oxygenation and a stable procedure without significant adverse events during sedation for ESD. However, caution is needed to avoid complications associated with deep sedation and difficult type of lesions.

Experience of reassessing FBN1 variants of uncertain significance by gene-specific guidelines.

BACKGROUND: Despite the 2015 American College of Medical Genetics and Genomics (ACMG) and Association of Molecular Pathology (AMP) guideline, many variants of FBN1 gene remain inconclusive. In line with publication of the FBN1-specific variant interpretation guideline by ClinGen in 2022, we reassessed variants of uncertain significance (VUS) in FBN1 gene found in our institution. METHODS: VUS found in the course of FBN1 sequencing between December 2015 and April 2022 were reassessed based on FBN1-specific variant interpretation guideline, review of updated literatures and additional genetic tests including family study and/or RNA study if available. RESULTS: Out of 695 patients who underwent FBN1 sequencing, 61 VUS were found in 69 patients. Among them, 38 VUS in 43 patients (62.3%) were reclassified as pathogenic and likely pathogenic variant ((L)PV), including 20 novel (L)PV. Major causes of reclassification were: (1) gene-specific modification of ACMG/AMP criteria, (2) updated literatures and (3) additional genetic tests. The most important evidence for reclassification was clarification of critical amino acid residues. CONCLUSIONS: After reassessing FBN1 variants according to FBN1-specific guideline and up-to-date database, a significant number of VUS was reclassified. Clinical laboratories are encouraged to perform variant reassessment at regular intervals or when there is a major change in the principle of variant interpretation.

Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome.

BACKGROUND: Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant disease caused by aberrations in COL3A1, which encodes type III collagen. Sanger sequencing has limitations for diagnosis since exon deletion/duplication and splicing alterations are not uncommon in COL3A1. We report 2 patients with vEDS who were not diagnosed by conventional Sanger sequencing. METHODS: We performed either targeted panel or whole-genome sequencing. Complementary DNA (cDNA) sequencing was performed using cultured skin fibroblasts. Sanger sequencing of DNA was performed for the confirmation of breakpoints in the case of exon deletion. We also evaluated the sensitivity of the splicing prediction tool, SpliceAI. RESULTS: An exon 27 deletion was suspected on targeted panel sequencing of 1 patient. The deletion was confirmed using cDNA sequencing (r.1870_1923del) and breakpoints were confirmed (c.1870-109_1923+10del). On targeted panel sequencing in the other patient, we found a novel intronic variant of c.1149+6T>C that leads to skipping of exon 16 (r.1051_1149del) by cDNA sequencing. SpliceAI showed 98.8% sensitivity for known splicing variants in COL3A1. CONCLUSION: Our study highlights the necessity of a comprehensive approach to the genetic diagnosis of vEDS. In addition, cDNA sequencing was useful as an auxiliary method, especially considering the limited sensitivity of the splicing prediction tool.

Differential Diagnosis of Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Hemangiomatosis after Identification of Two Novel EIF2AK4 Variants by Whole-Exome Sequencing.

Background: Pulmonary veno-occlusive disease (PVOD) and/or pulmonary capillary hemangiomatosis (PCH) are rare causes of pulmonary hypertension. Pulmonary arterial hypertension (PAH) and PVOD/PCH are clinically similar, but there is a risk of drug-induced pulmonary edema when PCH patients receive the PAH therapy. Therefore, early diagnosis of PVOD/PCH is important. Objectives: We report the first case in Korea of PVOD/PCH in a patient carrying compound heterozygous pathogenic variants in the EIF2AK4 gene. Case Description and Method: A 19-year-old man who was previously diagnosed with idiopathic PAH suffered from dyspnea on exertion for 2 months. He had a reduced lung diffusion capacity for carbon monoxide (25% predicted). Chest computed tomography images showed diffusely scattered ground-glass opacity nodules in both lungs with an enlarged main pulmonary artery. For the molecular diagnosis of PVOD/PCH, whole-exome sequencing was performed for the proband. Results: Exome sequencing identified two novel EIF2AK4 variants, c.2137_2138dup (p.Ser714Leufs*78) and c.3358-1G>A. These two variants were classified as pathogenic variants according to the 2015 American College of Medical Genetics and Genomics guidelines. Conclusions: We identified two novel pathogenic variants (c.2137_2138dup and c.3358-1G>A) in the EIF2AK4 gene. Identification of possible pathogenic gene variants by whole-exome sequencing or panel sequencing is recommended as a guide to adequate treatment of patients with pulmonary hypertension.

Clinical Course of Suspected Diagnosis of Pulmonary Tumor Thrombotic Microangiopathy: A 10-Year Experience of Rapid Progressive Right Ventricular Failure Syndrome in Advanced Cancer Patients.

BACKGROUND AND OBJECTIVES: Several cases involving severe right ventricular (RV) failure in advanced cancer patients have been found to be pulmonary tumor thrombotic microangiopathies (PTTMs). This study aimed to discover the nature of rapid RV failure syndrome with a suspected diagnosis of PTTM for better diagnosis, treatment, and prognosis prediction in clinical practice. METHODS: From 2011 to 2021, all patients with clinically suspected PTTM were derived from the one tertiary cancer hospital with more than 2000 in-hospital bed. RESULTS: A total of 28 cases of clinically suspected PTTM with one biopsy confirmed case were included. The most common cancer types were breast (9/28, 32%) and the most common tissue type was adenocarcinoma (22/26, 85%). The time interval from dyspnea New York Heart Association (NYHA) Grade 2, 3, 4 to death, thrombocytopenia to death, desaturation to death, admission to death, RV failure to death, cardiogenic shock to death were 33.5 days, 14.5 days, 7.4 days, 6.4 days, 6.1 days, 6.0 days, 3.8 days and 1.2 days, respectively. The NYHA Grade 4 to death time was 7 days longer in those who received chemotherapy (7.1 days vs. 13.8 days, p value=0.030). However, anticoagulation, vasopressors or intensive care could not change clinical course. CONCLUSIONS: Rapid RV failure syndrome with a suspected diagnosis of PTTM showed a rapid progressive course from symptom onset to death. Although chemotherapy was effective, increased life survival was negligible, and treatments other than chemotherapy did not help to improve the patient's prognosis.

Giant Coronary Artery Aneurysm with Thrombosis Complicated in a Patient with Idiopathic Hypereosinophilic Syndrome.

Idiopathic hypereosinophilic syndrome (iHES) is a rare systemic disease that is characterized by persistent peripheral eosinophilia (absolute eosinophil count ≥1500/uL) for more than 6 months, with end-organ damage and absence of a primary cause for eosinophilia. Coronary artery aneurysm (CAA) is a rare but life-threatening complication. Here, we report a case of CAA with thrombosis in a patient with iHES in whom the disease activity was well-controlled (eosinophil count <500/uL) for several years. Despite modest control of the disease activity, giant CAA can be associated with iHES; and therefore, close surveillance and monitoring for the development of complications is warranted.

Different Impact of Metabolic Syndrome on the Risk of Incidence of the Peripheral Artery Disease and the Venous Thromboembolism: A Nationwide Longitudinal Cohort Study in South Korea.

Background: Limited data is available between metabolic syndrome (MetS) and the development of peripheral arterial disease (PAD) or venous thromboembolism (VTE) in the Asian population. We investigated the incidence of PAD and VTE according to the prevalence of MetS and evaluated the impact of individual components in MetS on the development of PAD and VTE using Korean national data. Methods: Data obtained from national health screening examinations of the Korean National Health Insurance Service from January 1, to December 31, 2009. In total, 9,927,538 participants, 7,830,602 participants were included in this study and the incidence rate of PAD and VTE was investigated retrospectively during a 7-year follow-up. Using the National Cholesterol Education Program Adult Treatment Panel III criteria, patients were placed into one of three groups depending on MetS component numbers: 0 (normal), 1-2 (Pre-MetS), or 3-5 (MetS). Results: The incidence rates of PAD and VTE in MetS were 2.25% and 0.71%, respectively. After multivariable adjustment, the risk of PAD was significantly associated with MetS (hazard ratio (HR) 1.45, 95% confidence interval (CI) 1.42-1.49), the risk of VTE was not associated with MetS (HR 1.01, 95% CI 0.96-1.05). When subgroup analyses were conducted according to MetS components, elevated fasting glucose (HR 1.26, 95% CI 1.23-1.27), abdominal obesity (HR 1.15, 95% CI 1.12-1.17), and elevated blood pressure (HR 1.13, 95% CI 1.12-1.15) were the most related to PAD. Abdominal obesity (HR 1.104, 95% CI 1.064-1.146) was associated with an increased risk of VTE. Conclusions: MetS was significantly associated with an increased incidence rate of PAD among the general Korean population. On the other hand, MetS was not associated with the VTE incidence rate. Of the MetS components, only abdominal obesity was a significant predictor of VTE.

The association between metabolic syndrome and heart failure in middle-aged male and female: Korean population-based study of 2 million individuals.

OBJECTIVES: Although an association is known to exist between metabolic syndrome (MetS) and heart failure (HF) risk, large longitudinal studies are limited. We investigated metabolic status as a risk factor for HF in middle-aged male and female and considered sex differences in various risk factors for HF using nationwide real-world data. METHODS: Data obtained from the Korean National Health Insurance Service from 2009 to 2016 were analyzed. A total of 2,151,597 middle-aged subjects (between 50 and 59 years old) were enrolled. Subjects were divided into 3 groups (normal, pre- MetS, and MetS). Cox proportional hazard models were used to estimate the association between MetS and incident HF after adjusting for clinical risk factors. RESULTS: At baseline, MetS existed in 23.77% of male and 10.58% of female. Pre-MetS and MetS increased the risk of HF: the hazard ratios of pre-MetS for incident HF were 1.508 (95% confidence interval [CI], 1.287 to 1.767) in male and 1.395 (95% CI, 1.158 to 1.681) in female, and those of MetS were 1.711 (95% CI, 1.433 to 2.044) in male and 2.144 (95% CI, 1.674 to 2.747) in female. Current smoking, a low hemoglobin level, underweight (body mass index < 18.5 kg/m2), a high creatinine level, and acute myocardial infarction were also predictors of HF in both sexes. CONCLUSIONS: Pre-MetS and MetS were identified as risk factors for HF in middle-aged male and female. The effect of MetS on the occurrence of HF was stronger in female than in male. Pre-MetS was also a predictor of HF, but was associated with a lower risk than MetS.

Ultrasound-guided erector spinae plane block for pain management after gastrectomy: a randomized, single-blinded, controlled trial.

Background: Open gastrectomy causes severe postoperative pain. Therefore, we investigated the opioid-sparing effect of the ultrasound-guided bilateral erector spinae plane block (ESPB) after open gastrectomy. Methods: Adult patients undergoing open gastrectomy were randomly assigned to either the ESPB group (ESPB + fentanyl based intravenous patient-controlled analgesia [IV-PCA]) or a control group (fentanyl based IV-PCA only). The primary outcome was total fentanyl equivalent consumption during the first 24 hour postoperatively. Secondary outcomes were pain intensities using a numeric rating scale at the postanesthesia care unit (PACU) and at 3, 6, 12, and 24 hour postoperatively, and the amount of fentanyl equivalent consumption during the PACU stay and at 3, 6, and 12 hour postoperatively, and the time to the first request for rescue analgesia. Results: Fifty-eight patients were included in the analysis. There was no significant difference in total fentanyl equivalent consumption during the first 24 hour postoperatively between the two groups (P = 0.471). Pain intensities were not significantly different between the groups except during the PACU stay and 3 hour postoperatively (P < 0.001, for both). Time to the first rescue analgesia in the ward was longer in the ESPB group than the control group (P = 0.045). Conclusions: Ultrasound-guided ESPB did not decrease total fentanyl equivalent consumption during the first 24 hour after open gastrectomy. It only reduced postoperative pain intensity until 3 hour postoperatively compared with the control group. Ultrasound-guided single-shot ESPB cannot provide an efficient opioid-sparing effect after open gastrectomy.

Acute Pulmonary Embolism and Chronic Thromboembolic Pulmonary Hypertension: Clinical and Serial CT Pulmonary Angiographic Features.

In acute pulmonary embolism (PE), circulatory failure and systemic hypotension are important clinically for predicting poor prognosis. While pulmonary artery (PA) clot loads can be an indicator of the severity of current episode of PE or treatment effectiveness, they may not be used directly as an indicator of right ventricular (RV) failure or patient death. In other words, pulmonary vascular resistance or patient prognosis may not be determined only with mechanical obstruction of PAs and their branches by intravascular clot loads on computed tomography pulmonary angiography (CTPA), but determined also with vasoactive amines, reflex PA vasoconstriction, and systemic arterial hypoxemia occurring during acute PE. Large RV diameter with RV/left ventricle (LV) ratio > 1.0 and/or the presence of occlusive clot and pulmonary infarction on initial CTPA, and clinically determined high baseline PA pressure and RV dysfunction are independent predictors of oncoming chronic thromboembolic pulmonary hypertension (CTEPH). In this pictorial review, authors aimed to demonstrate clinical and serial CTPA features in patients with acute massive and submassive PE and to disclose acute CTPA and clinical features that are related to the prediction of oncoming CTEPH.

A Retrospective Population-Based Survival Study of Idiopathic Pulmonary Arterial Hypertension in Korea.

BACKGROUND: Few studies used nationwide data to assess the survival rates (SRs) and death risk for idiopathic pulmonary arterial hypertension (IPAH; ICD-10 I27.0) in Korea. METHODS: IPAH data (N = 9,017; female:male = 6:4) were collected from the National Health Insurance Service in Korea, from 2006 through 2017. The data consisted of primary diagnoses related to IPAH. The Kaplan-Meier method and Cox proportional-hazards analyses were carried out. RESULTS: The mean age was 62.3 (± 19.4) years, 64.2 (± 18.9) years in female and 59.4 (± 19.8) years in male (P < 0.001). The one-, three-, five- and 10-year SRs for IPAH were 89.0%, 79.8%, 72.3% and 57.0%, respectively. The adjusted hazard ratio (HR) of IPAH was 1.81 (95% confidence interval [CI], 1.26-2.59) in 60-69 age group, 3.42 (95% CI, 2.40-4.87) in 70-79, and 7.73 (95% CI, 5.43-11.0) in 80s. Other risk factors were male, low-income status, diabetes, myocardial infarction, atrial fibrillation, ischemic stroke, hemorrhagic stroke, and malignant neoplasm. CONCLUSION: The 10-year SR of IPAH was 57% in Korea. The HR for IPAH was significantly high in patients with older age and other risk factors.

Severe dysplasminogenemia due to homozygous PLG Ala620Thr variant in a Korean woman without a history of venous thromboembolism: A case report and literature review.

RATIONALE: Plasminogen plays an important role in fibrinolysis and is encoded by the PLG gene. The missense variant PLG Ala620Thr is the major cause of dysplasminogenemia in East Asian countries, including Korea. Although dysplasminogenemia was first reported in a Japanese patient with recurrent venous thromboembolism (VTE), subsequent studies have not demonstrated any clear association between the PLG Ala620Thr variant and the risk of VTE. To the best of our knowledge, this is the first report of a homozygous PLG Ala620Thr variant case from Korea. PATIENT CONCERNS: Here, we report a Korean family with PLG Ala620Thr mutation. The proband was a 34-year-old man who presented with multiple thrombotic arterial embolism and cardiac myxoma. INTERVENTIONS: Laboratory workup, including coagulation profile and PLG gene sequencing, was carried out for the affected family. DIAGNOSIS AND OUTCOME: The proband carried a heterozygous PLG Ala620Thr variant with decreased plasminogen activity of 65%. His 53-year-old mother, who had no reported history of VTE, was homozygous for the PLG Ala620Thr variant with decreased plasminogen activity of just 25%. Decreased plasminogen activity indicates dysplasminogenemia. LESSONS: We believe that this clinically silent homozygous case supports the previous findings that isolated PLG Ala620Thr variant does not confer a significant risk of VTE.

Validation and Clinical Utility of the Korean Version of the Obstetric Quality-of-Recovery Score (ObsQoR-11) Following Elective Cesarean Section: A Prospective Observational Cohort Study.

The Obstetric Quality of Recovery (ObsQoR-11) score is a new scoring tool that assesses maternal recovery after cesarean section (CS). We aimed to validate the translated Korean version of ObsQoR-11 (ObsQoR-11K) after elective CS. We validated ObsQoR-11K between March 2021 to August 2021. Validity (convergent, discriminant, and construct), reliability (Cronbach's α, inter-item, split-half, and test-retest correlation), responsiveness, and clinical feasibility (recruitment rate and time for ObsQoR-11K completion) of ObsQoR-11K were evaluated. One hundred and twenty women completed the ObsQoR-11K 24 h after CS, and 24 women repeated it 25 h after CS. We found good convergent validity between the ObsQoR-11K score and the global health numerical rating scale (NRS) (ρ = 0.73 (95% CI 0.64 to 0.81); p < 0.001). The ObsQoR-11K score discriminated well between good (NRS ≥ 70 mm, n = 68, 69.6 ± 13.7) and poor recovery (NRS < 70 mm, n = 52, 50.6 ± 12.6, p < 0.001). The ObsQoR-11K score showed acceptable internal consistency (Cronbach's α = 0.78), split-half reliability (0.89), intra-class correlation > 0.4, and no floor or ceiling effect. Of the participants, 100% completed the ObsQoR-11K and median (IQR) time for ObsQoR-11K completion was 81 s (66-97.5 s). ObsQoR-11K is a valid and reliable scoring tool for assessing maternal recovery after elective CS in Korean women.