RESUMO
BACKGROUND: Obesity has become a serious public health issue, significantly elevating the risk of various complications. It is a well-established contributor to Heart failure with preserved ejection fraction (HFpEF). Evaluating HFpEF in obesity is crucial. Epicardial adipose tissue (EAT) has emerged as a valuable tool for validating prognostic biomarkers and guiding treatment targets. Hence, assessing EAT is of paramount importance. Cardiovascular magnetic resonance (CMR) imaging is acknowledged as the gold standard for analyzing cardiac function and morphology. We hope to use CMR to assess EAT as a bioimaging marker to evaluate HFpEF in obese patients. AIM: To assess the diagnostic utility of CMR for evaluating heart failure with preserved ejection fraction [HFpEF; left ventricular (LV) ejection fraction ≥ 50%] by measuring the epicardial adipose tissue (EAT) volumes and EAT mass in obese patients. METHODS: Sixty-two obese patients were divided into two groups for a case-control study based on whether or not they had heart failure with HFpEF. The two groups were defined as HFpEF+ and HFpEF-. LV geometry, global systolic function, EAT volumes and EAT mass of all subjects were obtained using cine magnetic resonance sequences. RESULTS: Forty-five patients of HFpEF- group and seventeen patients of HFpEF+ group were included. LV mass index (g/m2) of HFpEF+ group was higher than HFpEF- group (P < 0.05). In HFpEF+ group, EAT volumes, EAT volume index, EAT mass, EAT mass index and the ratio of EAT/[left atrial (LA) left-right (LR) diameter] were higher compared to HFpEF- group (P < 0.05). In multivariate analysis, Higher EAT/LA LR diameter ratio was associated with higher odds ratio of HFpEF. CONCLUSION: EAT/LA LR diameter ratio is highly associated with HFpEF in obese patients. It is plausible that there may be utility in CMR for assessing obese patients for HFpEF using EAT/LA LR diameter ratio as a diagnostic biomarker. Further prospective studies, are needed to validate these proof-of-concept findings.
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PURPOSE: To report a case of pleiotropy in the COL2A1 gene typically associated with Stickler Syndrome Type 1. OBSERVATIONS: A patient with a confirmed mutation of the COL2A1 gene presented with an isolated retinitis pigmentosa phenotype. CONCLUSIONS: The mutated COL2A1 gene in Stickler Syndrome Type 1 represents a site of pleiotropy, highlighting a change in phenotype across the same genotype potentially due to tissue alternative splicing.
Assuntos
Doenças do Tecido Conjuntivo , Oftalmopatias Hereditárias , Perda Auditiva Neurossensorial , Descolamento Retiniano , Artrite , Doenças do Tecido Conjuntivo/diagnóstico , Doenças do Tecido Conjuntivo/genética , Genótipo , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genética , Humanos , Mutação , Linhagem , Fenótipo , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/genéticaRESUMO
BACKGROUND: To evaluate uveitis care outcomes in standalone versus a combined ophthalmology-rheumatology clinic. METHODS: Participants were patients aged 18 years and older with a minimum 12-month history of chronic uveitis prior to being referred to the combined uveitis clinic at Kresge Eye Institute and who were treated in the combined clinic for at least 6 months. Best corrected visual acuity (BCVA), objective markers of inflammation, and achieving targeted dose of immunomodulatory therapy (IMT) were compared in the cohort of uveitis patients 6 months prior to and after the initial evaluation in the combined clinic. RESULTS: Sixty-six percent of study participants were female with a mean age of 51.5 years. BCVA improved from 0.58 logMAR (Snellen: ~20/74) at the initial combined clinic visit to 0.50 logMAR (Snellen: ~20/63) 6 months after the first combined visit (p = 0.0137). The establishment of the combined uveitis clinic led to higher frequency of patients at target dose of IMT: an increase from 49.0% at 6 months prior to the combined visit to 70.1.4% and 79.8% at the initial combined visit and 6 months after the combined visit, respectively. CONCLUSION: A combined model of management for chronic uveitis patients wherein rheumatological services are coupled with ophthalmic care leads to improvement in patient clinical outcomes and achieving target therapy.
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PURPOSE: Quantitative radiomics features extracted from medical images have been shown to provide value in predicting clinical outcomes. The study for robustness and reproducibility of radiomics features obtained with magnetic resonance image guided linear accelerator (MR-Linac) is insufficient. The objective of this work was to investigate the stability of radiomics features extracted from T2-weighted images of MR-Linac for five common effect factors. MATERIALS AND METHOD: In this work, ten jellies, five fruits/vegetables, and a dynamic phantom were used to evaluate the impact of test-retest, intraobserver, varied thicknesses, radiation, and motion. These phantoms were scanned on a 1.5 T MRI system of MR-Linac. For test-retest data, the phantoms were scanned twice with repositioning within 15 min. To assess for intraobserver comparison, the segmentation of MR images was repeated by one observer in a double-blind manner. Three slice thicknesses (1.2 mm, 2.4 mm, and 4.8 mm) were used to select robust features that were insensitive to different thicknesses. The effect of radiation on features was studied by acquiring images when the beam was on. Common movement images of patients during radiotherapy were simulated by a dynamic phantom with five motion states to study the motion effect. A total of 1409 radiomics features, including shape features, first-order features, and texture features, were extracted from the original, wavelet, square, logarithmic, exponential and gradient images. The robustness and reproducibility features were evaluated using the concordance correlation coefficient (CCC). RESULT: The intraobserver group had the most robust features (936/1079, 86.7%), while the group of motion effects had the lowest robustness (56/936, 6.0%), followed by the group of different thickness cohorts (374/936, 40.0%). The stability of features in the test-retest and radiation groups was 1072 of 1312 (81.7%) and 810 of 936 (86.5%), respectively. Overall, 25 of 1409 (2.4%) radiomics features remained robust in all five tests, mostly focusing on the image type of the wavelet. The number of stable features extracted from when the beam was on was less than that extracted when the beam was off. Shape features were the most robust of all of the features in all of the groups, excluding the motion group. CONCLUSION: Compared with other factors fewer features remained robust to the effect of motion. This result emphasizes the need to consider the effect of respiration motion. The study for T2-weighted images from MR-Linac under different conditions will help us to build a robust predictive model applicable for radiotherapy.
Assuntos
Imageamento por Ressonância Magnética , Aceleradores de Partículas , Humanos , Imageamento por Ressonância Magnética/métodos , Movimento (Física) , Imagens de Fantasmas , Reprodutibilidade dos TestesRESUMO
This report aims to determine the benefits of long-term use of methotrexate as a steroid-sparing agent for a patient with pulmonary sarcoidosis who cannot tolerate the glycemic effects of steroids. A search for articles using the medical subject heading terms "methotrexate" and "sarcoidosis" on PubMed involving clinical trials evaluating the therapeutic effect and toxic profile of methotrexate as a steroid-sparing agent in treating pulmonary and/or extrapulmonary symptoms of sarcoidosis was included. The literature review indicates that methotrexate is an alternative treatment for sarcoidosis, allowing the patient to avoid the long-term side effects of steroids while achieving similar rates of treatment and remission. Patients in several research studies were able to taper their steroid dosage over time when methotrexate was concurrently prescribed for the treatment of pulmonary sarcoidosis. The critical appraisal of one of the studies reviewed indicates methotrexate as a single agent in treating patients with chronic progressive pulmonary sarcoidosis, serving as a steroid alternative. Methotrexate was safe and effective for a duration of 6-24 months, with patients experiencing definite improvements in pulmonary function tests. However, not all patients in this open prospective, real-life, single-center trial demonstrated improvement. Thus, a review of the current literature is often necessary to help guide clinical decision-making for patients with chronic diseases like sarcoidosis and to determine patient characteristics of methotrexate responders.