Articles: disease.
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Case Reports
A novel nonsense mutation in TNNT2 in a Chinese pedigree with hypertrophic cardiomyopathy: A case report.
Hypertrophic cardiomyopathy (HCM) is an inherited myocardial disease and a common cause of sudden cardiac death, heart failure, atrial fibrillation and stroke. In families affected by HCM, genotyping is useful for identifying susceptible relatives. In the present study, we investigated the disease-causing mutations in a three-generation Chinese family with HCM using whole exome sequencing (WES). ⋯ A novel nonsense TNNT2 mutation was identified as the HCM-causing mutation in this Chinese pedigree. Since HCM shows a low penetrance by clinical criteria in adolescents, the adolescent mutation carrier, who is still clinically unaffected, should be offered routine follow-ups and sport activity recommendations to prevent adverse events including sudden cardiac death in the future.
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As the gold standard for imaging sinus disease, the main disadvantage of computed tomography (CT) of the pediatric paranasal sinus is radiation exposure. Because of this, 1 protocol for CT should reduce radiation dose while maintaining image quality. The aim of this study is to evaluate the image quality of dose-reduced paranasal sinus computed tomography (CT) using an ultralow tube voltage (70 kVp) combined with iterative reconstruction (IR) in children. ⋯ The ultralow tube voltage (70 kVp) technique combined with IR enabled a significant dose reduction in CT examinations performed in the pediatric paranasal sinus while maintaining diagnostic image quality with clinically acceptable image noise.
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Coronavirus disease 2019 (COVID-19) has caused serious damage to public health. COVID-19 has no vaccine or specific therapy; its mortality rate increases significantly once patients deteriorate. Furthermore, intensive monitoring of COVID-19 is limited by insufficient medical resources and increased risks of exposure to medical staff. We therefore aim to build an early warning and rapid response system (EWRRS) to address these problems. ⋯ Our hypothesis is that EWRRS provides an example of an early identification, warning, and response system for COVID-19. In addition, EWRRS can potentially be extended to use as a grading metric for general critically ill patients in an ICU setting.
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Colonic telangiectasia, also known as colonic angiodysplasia, refers to arteriovenous malformations that occur in the colon, which are common vascular lesions in the GI tract. ⋯ While the etiology of colonic telangiectasia remains unclear, it is common in the elderly, and is more associated with geriatric conditions and diseases, especially atherosclerotic diseases. Patients who are diagnosed with colonic telangiectasia but are asymptomatic, do not need further treatment. It is usually recommended to monitor the color of stool and check the hemoglobin and fecal occult blood regularly. Colonoscopy is the main method of diagnosis of colonic telangiectasia, and the positive rate is greater than 90%. This procedure should be performed when there is no bleeding or a small amount of bleeding.
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Observational Study
Clinical importance of respiratory muscle fatigue in patients with cardiovascular disease.
Patients with cardiovascular diseases frequently experience exertional dyspnea. However, the relationship between respiratory muscle strength including its fatigue and cardiovascular dysfunctions remains to be clarified. The maximal inspiratory pressure/maximal expiratory pressure (MIP/MEP) before and after cardiopulmonary exercise testing (CPX) in 44 patients with heart failure and ischemic heart disease were measured. ⋯ In addition, multivariate analysis for determining factor of change in MIP revealed that the association between the change in MIP and eGFR was independent from other confounding parameters (beta, 0.40, P = .017). The patients were divided into 2 groups, with (MIP change < 0.9) and without respiratory muscle fatigue (MIP change > 0.9), and a significant difference in peak VO2 (14.2 ± 3.4 [with fatigue] vs 17.4 ± 4.7 [without fatigue] mL/kg/min; P = .020) was observed between the groups. Respiratory muscle fatigue demonstrated by the change of MIP before and after CPX significantly correlated with exercise capacity and renal function in patients with cardiovascular disease.