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1.
Genes (Basel) ; 12(7)2021 07 14.
Article in English | MEDLINE | ID: mdl-34356086

ABSTRACT

Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disease that affects the musculoskeletal system, including the heart, causing rhythm disorders and cardiomyopathy, sometimes requiring an implantable cardioverter-defibrillator (ICD) or heart transplantation due to severe heart damage. The case described herein concerns a 16-year-old girl, with grade II obesity, without other known pathological antecedents or cardiac pathology diagnosis given an annual history of cardiological investigations. She was admitted to the Infectious Diseases Department with SARS-CoV-2 virus infection. The anamnesis showed that the cardiological investigations performed in the past were completed due to the medical history antecedents of her sister, who had been diagnosed with dilated cardiomyopathy, having undergone the placement of an ICD and a heart transplant. Numerous investigations were performed during hospitalization, which revealed high levels of high-sensitive cardiac troponin I (hs-cTnI), creatine kinase (CK) and N-terminal pro b-type natriuretic peptide (NT-proBNP). Dynamic electrocardiographic evaluations showed ventricular extrasystoles, without clinical manifestations. The patient presented stage 2 arterial hypertension (AHT) during hospitalization. A cardiac ultrasound was also performed, which revealed suspected mild subacute viral myocarditis with cardiomyopathy, and antihypertensive medication was initiated. A heart MRI was performed, and the patient was diagnosed with dilated cardiomyopathy, refuting the suspicion of viral subacute myocarditis. After discharge, as the patient developed gait disorders with an impossible heel strike upon walking and limitation of the extension of the arms and ankles, was hospitalized in the Neurology Department. Electrocardiograms (ECGs) were dynamically performed, and because the rhythm disorders persisted, the patient was transferred to the Cardiology Department. On Holter monitoring, non-sustained ventricular tachycardia (NSVT) was detected, so antiarrhythmic treatment was initiated, and placement of an ICD was subsequently decided and was diagnosed with EDMD. Genetic tests were also performed, and a mutation of the lamin A/C gene was detected (LMNA gene exon 2, variant c448A > C (p.Thr150pro), heterozygous form, AD).


Subject(s)
COVID-19 , Cardiomyopathy, Dilated , Muscular Dystrophy, Emery-Dreifuss , SARS-CoV-2/metabolism , Adolescent , COVID-19/blood , COVID-19/diagnosis , COVID-19/physiopathology , COVID-19/therapy , Cardiomyopathy, Dilated/blood , Cardiomyopathy, Dilated/diagnostic imaging , Cardiomyopathy, Dilated/physiopathology , Cardiomyopathy, Dilated/therapy , Female , Humans , Muscular Dystrophy, Emery-Dreifuss/blood , Muscular Dystrophy, Emery-Dreifuss/diagnostic imaging , Muscular Dystrophy, Emery-Dreifuss/physiopathology , Muscular Dystrophy, Emery-Dreifuss/therapy
2.
Evol Comput ; 26(1): 145-175, 2018.
Article in English | MEDLINE | ID: mdl-28358647

ABSTRACT

Co-optimization problems often involve settings in which the quality ( utility) of a potential solution is dependent on the scenario within which it is evaluated, and many such scenarios exist. Maximizing expected utility is simply the goal of finding the potential solution whose expected utility value over all possible scenarios is best. Such problems are often approached using coevolutionary algorithms. We are interested in the design of generally well-performing black-box algorithms for this problem, that is, algorithms which have access to the utility function only via input-output queries. We research this matter by focusing on three main questions: 1) are some algorithms strictly better than others when judged in aggregation over all possible instances of the problem? that is, is there "free lunch"? 2) do optimal algorithms exist? and 3) if so, do they have a tractable implementation? For a specific expected-utility maximization context, involving several assumptions and performance choices, we answer all three questions affirmatively and concretely: we provide examples of free lunch; we describe the general operation of optimal algorithms; we characterize situations when this operation has a very simple and efficient implementation, situations when the computational cost can be significantly reduced, and situations when tractability of optimal algorithms might be out of reach.


Subject(s)
Algorithms , Software , Computer Simulation , Models, Theoretical
3.
Clin Lab ; 62(10): 1829-1840, 2016 Oct 01.
Article in English | MEDLINE | ID: mdl-28164521

ABSTRACT

BACKGROUND: The critically ill polytrauma patient continues to be one of the most complex cases in the intensive care unit (ICU). The molecular damage is closely connected with the severe, specific pathophysiological imbalances, such as severe inflammation, infections, hypermetabolism, oxidative stress, and ultimately multiple organ dysfunction syndrome (MODS). METHODS: The literature available on PubMed and Scopus was analysed for this study. The key words used in the search were "biomarkers in critically ill patients", "molecular damage", "sepsis biomarkers", "miRNAs biomarkers", and "oxidative stress". RESULTS: After reviewing the available literature, 133 science articles were selected. According to recent studies, the gold goal in the management of the critically ill patient is the optimization of intensive care therapy dependent on the molecular damage. CONCLUSIONS: Furthermore, evaluation, monitoring, and therapy adaptation in this type of patient is closely related to the biochemical and molecular disorders.


Subject(s)
Multiple Trauma/metabolism , Biomarkers , Critical Illness , Humans , MicroRNAs/analysis , Multiple Trauma/diagnosis , NF-kappa B/physiology , Oxidation-Reduction
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