Familiáris myelodysplasiás szindróma és akut myeloid leukaemia klinikai és genetikai háttere

Myelodysplastic syndrome and acute myeloid leukaemia are mainly sporadic diseases, however, rare familial cases exist. These disorders are considered rare, but are likely to be more common than currently appreciated, and are characterized by the autosomal dominant mutations of hematopoietic transcription factors. These syndromes have typical phenotypic features and are associated with an increased risk for developing overt malignancy. Currently, four recognized syndromes could be separated: familial acute myeloid leukemia with mutated CEBPA, familial myelodysplastic syndrome/acute myeloid leukemia with mutated GATA2, familial platelet disorder with propensity to myeloid malignancy with RUNX1 mutations, and telomere biology disorders due to mutations of TERC or TERT. Furthermore, there are new, emerging syndromes associated with germline mutations in novel genes including ANKRD26, ETV6, SRP72 or DDX41. This review will discuss the current understanding of the genetic basis and clinical presentation of familial leukemia and myelodysplasia. Orv. Hetil., 2016, 157(8), 283-289

Evaluation of an open access software for calculating glucose variability parameters of a continuous glucose monitoring system applied at pediatric intensive care unit.

BACKGROUND: Continuous Glucose Monitoring (CGM) has become an increasingly investigated tool, especially with regards to monitoring of diabetic and critical care patients. The continuous glucose data allows the calculation of several glucose variability parameters, however, without specific application the interpretation of the results is time-consuming, utilizing extreme efforts. Our aim was to create an open access software [Glycemic Variability Analyzer Program (GVAP)], readily available to calculate the most common parameters of the glucose variability and to test its usability. METHODS: The GVAP was developed in MATLAB(R) 2010b environment. The calculated parameters were the following: average area above/below the target range (Avg. AUC-H/L); Percentage Spent Above/Below the Target Range (PATR/PBTR); Continuous Overall Net Glycemic Action (CONGA); Mean of Daily Differences (MODD); Mean Amplitude of Glycemic Excursions (MAGE). For verification purposes we selected 14 CGM curves of pediatric critical care patients. Medtronic(R) Guardian(R) Real-Time with Enlite(R) sensor was used. The reference values were obtained from Medtronic(R)'s own software for Avg. AUC-H/L and PATR/PBTR, from GlyCulator for MODD and CONGA, and using manual calculation for MAGE. RESULTS: The Pearson and Spearman correlation coefficients were above 0.99 for all parameters. The initial execution took 30 minutes, for further analysis with the Windows(R) Standalone Application approximately 1 minute was needed. CONCLUSIONS: The GVAP is a reliable open access program for analyzing different glycemic variability parameters, hence it could be a useful tool for the study of glycemic control among critically ill patients

The Proteomic Code: a molecular recognition code for proteins

<p>Abstract</p> <p>Background</p> <p>The Proteomic Code is a set of rules by which information in genetic material is transferred into the physico-chemical properties of amino acids. It determines how individual amino acids interact with each other during folding and in specific protein-protein interactions. The Proteomic Code is part of the redundant Genetic Code.</p> <p>Review</p> <p>The 25-year-old history of this concept is reviewed from the first independent suggestions by Biro and Mekler, through the works of Blalock, Root-Bernstein, Siemion, Miller and others, followed by the discovery of a Common Periodic Table of Codons and Nucleic Acids in 2003 and culminating in the recent conceptualization of partial complementary coding of interacting amino acids as well as the theory of the nucleic acid-assisted protein folding.</p> <p>Methods and conclusions</p> <p>A novel cloning method for the design and production of specific, high-affinity-reacting proteins (SHARP) is presented. This method is based on the concept of proteomic codes and is suitable for large-scale, industrial production of specifically interacting peptides.</p

Iron Behaving Badly: Inappropriate Iron Chelation as a Major Contributor to the Aetiology of Vascular and Other Progressive Inflammatory and Degenerative Diseases

The production of peroxide and superoxide is an inevitable consequence of aerobic metabolism, and while these particular "reactive oxygen species" (ROSs) can exhibit a number of biological effects, they are not of themselves excessively reactive and thus they are not especially damaging at physiological concentrations. However, their reactions with poorly liganded iron species can lead to the catalytic production of the very reactive and dangerous hydroxyl radical, which is exceptionally damaging, and a major cause of chronic inflammation. We review the considerable and wide-ranging evidence for the involvement of this combination of (su)peroxide and poorly liganded iron in a large number of physiological and indeed pathological processes and inflammatory disorders, especially those involving the progressive degradation of cellular and organismal performance. These diseases share a great many similarities and thus might be considered to have a common cause (i.e. iron-catalysed free radical and especially hydroxyl radical generation). The studies reviewed include those focused on a series of cardiovascular, metabolic and neurological diseases, where iron can be found at the sites of plaques and lesions, as well as studies showing the significance of iron to aging and longevity. The effective chelation of iron by natural or synthetic ligands is thus of major physiological (and potentially therapeutic) importance. As systems properties, we need to recognise that physiological observables have multiple molecular causes, and studying them in isolation leads to inconsistent patterns of apparent causality when it is the simultaneous combination of multiple factors that is responsible. This explains, for instance, the decidedly mixed effects of antioxidants that have been observed, etc...Comment: 159 pages, including 9 Figs and 2184 reference

Glycemic control in the intensive care unit: A control systems perspective

Computers and automation have revolutionised quality and productivity in many industries, but not in medicine. Healthcare costs are thus growing beyond the ability of society to pay for them, multiplied by the impact of increasingly aging populations, and specifically in the demand placed on intensive care unit (ICU) services. Glycemic control is a core ICU therapy with the potential to reduce both mortality and cost, which makes it an area where greater personalisation and automation could play a leading role in improving productivity and care. This review presents the background to the problem and the main issues arising in this area of care from a control systems technology perspective. It then presents a vision of a more automated future with specific goals in the areas of dynamic systems modeling, system identification and control. These areas are then given a state of the art review, mixing both medicine and control systems perspectives. It is concluded by specific recommendations for the field, where control systems expertise can be leveraged to best advantage. © 2019 Elsevier Lt

Trends in Facial Paralysis Management: A National Survey Study

INTRODUCTION: Advances in operative management, minimally invasive procedures, and physical therapy have allowed for dramatic improvements in functional and cosmetic outcomes in patients with facial paralysis. Our goal was to evaluate the current trends and practice patterns in the diagnosis and management of facial paralysis by provider demographics. MATERIALS AND METHODS: An electronic questionnaire was distributed to members of the American Academy of Facial Plastic and Reconstructive Surgery (AAFPRS). Practice patterns in the diagnosis and treatment were compared by level of training (fellowship-trained facial plastic and reconstructive surgeon versus non-fellowship trained), practice type (academic and private), practice length, patient volume, and presence of a dedicated facial nerve clinic. The bivariate associations of the outcome variables and the stratification factors were analyzed using 2-way contingency tables and Fisher\u27s exact tests. RESULTS: The survey was sent to 1129 members of the AAFPRS. The response rate was 11.7% (n=132). Most respondents were fellowship-trained surgeons (79%) in the academic setting (55%), and most have been in practice for more than 10 years (53%). Practice setting and patient volume were the factors most associated with significant variations in management, including the use of facial paralysis grading scales, photography/videography, patient-reported outcome metrics, as well as differences in both noninvasive and surgical management. CONCLUSION: Based on the present study, several physician demographic factors may play a role in choosing which diagnostic and treatment options are employed for facial paralysis, with practice setting and patient volume appearing to be the 2 variables associated with the most significant differences