Medicina
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Background and objectives: Mutational analysis has led to a better understanding of acute myeloid leukemia (AML) biology and to an improvement in clinical management. Some of the most important mutations that affect AML biology are represented by mutations in genes related to methylation, more specifically: TET2, IDH1, IDH2 and WT1. Because it has been shown in numerous studies that mutations in these genes lead to similar expression profiles and phenotypes in AML, we decided to assess if mutations in any of those genes interact with other genes important for AML. ⋯ Because there were only 16 cases of RUNX1 mutant samples and that mutations in this gene determined a change in mRNA expression, we further observed the correlation between RUNX1 and other mRNAs in subgroups regarding the presence of hypermethylating mutations and NPM1. Here, we observed that both TET2/IDH1/2/WT1 and NPM1 mutations increase the number of genes negatively correlated with RUNX1 and that these genes were significantly linked to myeloid activation. Conclusions: In the current study, we have shown that NPM1 and TET2/IDH1/2/WT1 mutations increase the number of negative correlations of RUNX1 with other transcripts involved in myeloid differentiation.
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Case Reports
Interventional Cardiovascular Magnetic Resonance Imaging (iCMR) in an Adolescent with Pulmonary Hypertension.
The interventional cardiac magnetic resonance imaging (iCMR) catheterization procedure is feasible and safe for children and adults with pulmonary hypertension and congenital heart defects (CHD). With iCMR, the calculation of pulmonary vascular resistance (PVR) in children with complex CHD with multilevel shunt lesions is accurate. In this paper, we describe the role of the MRI-guided right-sided cardiac catheterization procedure to accurately estimate PVR in the setting of multiple shunt lesions (ventricular septal defect and patent ductus arteriosus) and to address the clinical question of operability in an adolescent with trisomy 21 and severe pulmonary hypertension.
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Background and objectives: Complex limb traumas are commonly treated with microsurgical reconstruction and free flaps. However, complications are frequent in patients affected by a previous trauma or comorbidity, atheromasia and a single valid vessel. Free flap reconstruction is indeed a challenging procedure in complex injuries, which may increase the risk of limb ischemia. ⋯ Conclusions: AVL is a useful and safe technique in microsurgical reconstruction which will prevent vascular complications. Our investigations suggest the efficacy and feasibility of a two-step intervention in acute post-traumatic events. A single-step procedure should be preferred in chronic situation and oncologic reconstruction.
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Review Case Reports
Pneumoconiosis with a Sarcoid-Like Reaction Other than Beryllium Exposure: A Case Report and Literature Review.
Background: Chronic beryllium disease (CBD) is a granulomatous disease that resembles sarcoidosis but is caused by beryllium. Clinical manifestations similar to those observed in CBD have occasionally been reported in exposure to dusts of other metals. However, reports describing the clinical, radiographic, and pathological findings in conditions other than beryllium-induced granulomatous lung diseases, and detailed information on mineralogical analyses of metal dusts, are limited. ⋯ Aluminum is frequently detected in patients with pneumoconiosis with a sarcoid-like reaction and is listed as an inorganic agent in the etiology of sarcoidosis. It was also detected in our patient and may have contributed to the etiology. Additionally, our case suggests that cessation of dust exposure may contribute to improvement under the aforementioned conditions.
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Background and Objectives: Arterial hypertension remains an important cause of cardiovascular morbidity and mortality, despite all the progress made in the methods of diagnosis, monitoring of target organs' damage and treatment. The main cause of the increased prevalence of uncontrolled blood pressure values is the low compliance to antihypertensive treatment. The objective of our study was to assess the compliance to the treatment of patients diagnosed with arterial hypertension and monitored in a primary care office. ⋯ Most of the patients, 55.81% (72 patients) were diagnosed with grade III hypertension, while 37.98% (49 patients) were diagnosed with grade II hypertension and 6.2% (8 patients) with grade I hypertension. One third of the surveyed patients answered that they follow the recommendations of a low-sodium diet, 21.7% are adherent to treatment, but 56% think that the total cost of the medication is an impediment for their compliance to treatment. The majority, 82.17% (106 patients), of respondents had an affirmative answer to the questions: 'Do you think it would be easier to take one pill instead of 2, 3 or 4 pills?' Conclusion: The increased compliance to the antihypertensive treatment and control of blood pressure values are associated with the degree of awareness of arterial hypertension and the consequences if left untreated, emphasizing the role of the general practitioner in counseling for secondary prevention.