24 research outputs found

    The current knowledge on ASXL1-mutated acute myeloid leukemia

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    Acute myeloid leukemia is a malignant hematopoietic cancer, in the pathogenesis of which the central role is played by the mutations of genes controlling maturation and apoptosis of bone marrow progenitor cells. A mutation in the ASXL1 gene, whose protein product takes part in the regulation of gene expression, is of prognostic importance, being a negative prognostic and predictive factor. It is estimated that the ASXL1 gene mutation occurs in 14.4-19.1% of patients with AML and is more frequent in men over 60 years of age. Aberrations of chromosomes 8 and 11 often co-occur with ASXL1 gene mutation in AML and may provide additional prognostically relevant information. Treatment of patients with AML is tailored to the patient depending on the risk group, karyotype aberrations and coexisting mutations. Many patients are not eligible for allo-HSCT, although this method significantly improves the survival of AML patients with ASXL1 gene mutations. Gilteritinib may also be used to treat these patients, but the multitude of associated mutations forces to rely on chemotherapy based on non-specific cytotoxic drugs. This review summarizes the most crucial information concerning the pathogenesis, peculiarities, diagnosis and therapy of AML with coexisting ASXL1 mutation.Ostra białaczka szpikowa jest nowotworem złośliwym układu krwiotwórczego, w patogenezie której centralną rolę pełnią mutacje genów kontrolujących dojrzewanie i apoptozę komórek progenitorowych szpiku. Istotna rokowniczo jest mutacja w genie ASXL1, którego produkt białkowy bierze udział w regulacji ekspresji genów. Jest ona negatywnym czynnikiem prognostycznym i predykcyjnym.  Szacuje się, że mutacja genu ASXL1 występuje u 14,4-19,1% pacjentów z AML i jest częstsza u mężczyzn powyżej 60 roku życia. Aberracje chromosomów 8 i 11 często współwystępują z mutacją genu ASXL1 w AML i mogą stanowić dodatkową, istotną prognostycznie informację. Leczenie chorych z AML dopasowywane jest do pacjenta w zależności od grupy ryzyka, zmian kariotypu oraz współistniejących mutacji. Duża liczba chorych nie kwalifikuje się do allo-HSCT, choć ta metoda znacznie poprawia przeżywalność pacjentów z AML z mutacją genu ASXL1. Zastosowanie w terapii tych pacjentów może mieć również gilterytynib, jednak mnogość towarzyszących mutacji zmusza do bazowania na chemioterapii opartej na niespecyficznych lekach cytotoksycznych. Celem pracy jest podsumowanie najważniejszych informacji dotyczących patogenezy, cech szczególnych, diagnostyki i terapii AML z współistniejącą mutacją ASXL1

    Understanding cannabinoid receptors: structure and function

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    The endocannabinoid system (ECS) consists of the endocannabinoids, cannabinoid receptors and the enzymes that synthesize and degrade endocannabinoids. The whole EC system plays an important role in the proper functioning of the central and autonomic nervous system. ECS is involved in the regulation of the body energy and in the functioning of the endocrine system. It can affect on the regulation of emotional states, motoric movement, operations of the endocrine, immune and digestive system. Many of the effects of cannabinoids are mediated by G coupled –protein receptors: CB1, CB2 and GPR55 but also of transient receptor potential channels (TRPs) which not only induce the sensation of pain but also support inflammation via secretion of pro-inflammatory neuropeptides. In this review work we briefly summarize the role and action of cannabinoid receptors CB1 and CB2, protein-coupled receptor 55 (GPR55) and transient receptor potential vanilloid 1 (TRPV1)

    Quality Assessment of Clinical Practice Guidelines for Asthma Management Using the AGREE II Tool

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    Subject of the study Clinical practice guidelines are an effective strategy for optimizing health care by promoting evidence-based recommendations. Appropriate methodology and a rigorous strategy when formulating the recommendations of clinical guidelines has a significant impact on their quality, reliability and ability to be effectively implemented in practice. Purpose of the study The purpose of our study was to assess the quality of clinical practice guidelines for asthma management using the AGREE II tool. The analysis compared the quality of Polish clinical guidelines with those from other countries and international organizations. Nine guidelines were evaluated: Management of Asthma Exacerbations in Adults - Guidelines for General Practitioners (author: Supreme Medical Council, Poland), Global Strategy for Asthma Management and Prevention (author: The Global Initiative for Asthma (GINA)), Asthma and Respiratory Foundation NZ Adolescent and Adult Asthma Guidelines 2020: a quick reference guide (author: Asthma and Respiratory Foundation New Zealand), Australian Asthma Handbook V2.0 (author: National Asthma Council Australia), National Clinical Guideline: The Diagnosis and Management of Asthma in Adults V2. 1 (author: Ministry of Public Health Qatar), SIGN 158 British guideline on the management of asthma (author: Scottish Intercollegiate Guidelines Network (SIGN) British Thoracic Society), Management of Asthma in Adults (author: Malaysian Health Technology Assessment Section (MaHTAS)), Asthma: diagnosis, monitoring and chronic asthma management (author: National Institute for Health and Care Excellence (NICE)), and The Spanish Guideline on the Management of Asthma (author: Guía Española para el Manejo del Asma (GEMA)). Results The highest scored domains were transparency and presentation of recommendations (all guidelines scored 100% or close to 100%), guideline scope and purpose, and editorial independence. The domains that scored lowest were in the areas of stakeholder engagement and applicability (79.3% and 69.2%, respectively). The largest differences were observed in the area of editorial independence, ranging from 100% (the maximum possible score) to 16.7%. The guidelines developed by the National Institute for Health and Care Excellence and the Scottish Intercollegiate Guidelines Network received the highest overall score. The Polish guidelines received the maximum number of points in areas related to scope and purpose, transparency and presentation, and editorial independence. Conclusions A properly conducted guideline development process, including the involvement of experts and adherence to methodological standards, results in high-quality clinical practice guidelines. High-quality clinical practice guidelines can be used as tools to support clinical decision-making, however, guideline authors should pay special attention to the applicability of guidelines in practice and the involvement of all stakeholders. To improve the process of guideline development and patient access to the newest therapies, it is also important to consider the synergies between the recommendations in clinical practice guidelines and health technology assessment reports

    Recommendations for the use of active personal dosemeters (APDs) in interventional workplaces in hospitals

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    Occupational radiation doses from interventional procedures have the potential to be relatively high. The requirement to optimise these doses encourages the use of electronic or active personal dosimeters (APDs) which are now increasingly used in hospitals. They are typically used in tandem with a routine passive dosimetry monitoring programme, with APDs used for real-time readings, for training purposes and when new imaging technology is introduced. However, there are limitations when using APDs. A survey in hospitals to identify issues related to the use of APDs was recently completed, along with an extensive series of APD tests by the EURADOS Working Group 12 on Dosimetry for Medical Imaging. The aim of this review paper is to summarise the state of the art regarding the use of APDs. We also used the results of our survey and our tests to develop a set of recommendations for the use of APDs in the clinical interventional radiology/cardiology settings, and draw attention to some of the current challenges

    Individual dosimetry as an element of health prevention for employees exposed to ionizing radiation

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    The paper presents the current radiation protection standards, in line with the recommendations of the International Commission on Radiological Protection (ICRP), and their evolution over the years based on new knowledge about the biological effects of ionizing radiation and the changing attitude of people to the accepted risk. The work takes into account in particular the role of the dose limit principle and individual dose measurements in activities aimed at health prevention of individual people occupationally exposed to ionizing radiation. Med Pr Work Health Saf. 2023;74(6):527–39

    Individual dosimetry as an element of health prevention for employees exposed to ionizing radiation

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    Przedstawiono zgodne z rekomendacjami Międzynarodowej Komisji Ochrony Radiologicznej współczesne standardy ochrony radiologicznej i ich ewolucję na przestrzeni lat na podstawie nowej wiedzy na temat skutków biologicznych działania promieniowania jonizującego oraz zmieniający się stosunek do akceptowanego ryzyka. W pracy w sposób szczególny uwzględniono rolę zasady limitowania dawek i pomiarów dawek indywidualnych w działaniach ukierunkowanych na profilaktykę zdrowotną indywidualnych osób narażonych zawodowo na promieniowanie jonizujące.The paper presents the current radiation protection standards, in line with the recommendations of the International Commission on Radiological Protection (ICRP), and their evolution over the years based on new knowledge about the biological effects of ionizing radiation and the changing attitude of people to the accepted risk. The work takes into account in particular the role of the dose limit principle and individual dose measurements in activities aimed at health prevention of individual people occupationally exposed to ionizing radiation

    Latest Advances in the Management of Pediatric Gastrointestinal Stromal Tumors

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    Gastrointestinal stromal tumor is the most common mesenchymal neoplasm of the gastrointestinal tract, usually found in elderly adults. It is infrequent among pediatric patients and usually differs biologically from adult-type diseases presenting mutations of KIT and PDGFR genes. In this population, more frequent is the wild-type GIST possessing SDH, TRK, RAS, NF1 mutations, among others. Both tumor types require individualized treatment with kinase inhibitors that are still being tested in the pediatric population due to the different neoplasm biology. We review the latest updates to the management of pediatric gastrointestinal tumors with a particular focus on the advances in molecular biology of the disease that enables the definition of possible resistance. Emerging treatment with kinase inhibitors that could serve as targeted therapy is discussed, especially with multikinase inhibitors of higher generation, the effectiveness of which has already been confirmed in the adult population
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