Kleine-Levin Syndorme: aetiology and pathogenesis, symptoms, diagnosis and treatment

AIM: The aim of the study is to present the aetiology, pathogenesis, symptoms, diagnosis and treatment of Kleine-Levin syndrome (KLS). VIEW: Kleine-Levin syndrome is an extremely rare disease entity that consists of attacks of hypersomnia, cognitive and behavioural disorders, hyperphagia and hypersexuality, which are alternated with asymptomatic intervals. The prevalence of this disease, whose etiopathogenesis has not been known yet, all over the world oscillates around 1-5 cases/1,000,000 inhabitants, with predilection for male gender, mainly during the puberty period. Lack of objective diagnostic methods implicates frequent diagnostic errors in KLS. What is more, up to now, an unequivocal position of experts concerning pharmacotherapy of this disease has not been established yet. However, prognosis seems to be favourable as the following episodes become rarer, of weaker intensity up to their complete remission in the majority of patients. CONCLUSION: Further research of aetiology and pharmacological treatment of KLS is needed

Hyperkalemia - a review article

Introduction: Potassium is critical cation in physiological functions. Hyperkalemia is a common electrolyte disorder, defined as potassium level above 5,5 mmol/L. Knowledge of the basic rules of hyperkalemia management is crucial to every doctor. Purpose: Systemic review of causes, symptoms and treatment of hyperkalemia. Material and methods: Standard criteria were used to review the literature data. The search of articles in the PubMed database was carried out. Description of the state of knowledge: The causes of hyperkalemia are different and mostly result from impaired urinary potassium excretion due to acute or chronic kidney disease. The symptoms of hyperkalemia vary and usually affect skeletal muscles, myocardium and central nervous system. Treatment of hyperkalemia depends on the presence or absence of symptoms, the severity of potassium elevation and the cause of hyperkalemia. Therefore, management with the patient with hyperkalemia includes careful interview, evaluation of clinical symptoms, ECG and searching for possible causes of disorders. Summary: Hyperkalemia requires urgent therapeutic intervention. In each case of elevated potassium concentration ECG should be performed and the obtained laboratory result should be verified. The crucial point in hyperkalemia treatment is the shift of potassium to the cells and simultaneously the removal of potassium from the body

BAFF, APRIL, and their receptors: physiological role and involvement in the pathogenesis of chronic lymphocytic leukemia

Chronic lymphocytic leukemia (CLL) is hematopoietic malignancy involving clonal proliferation and accumulation of morphologically mature yet functionally incompetent B-lymphocytes in blood, lymphoid tissue and, less commonly, extralymphatic organs. Despite significant advances in molecular characterization of CLL, the pathogenesis of the disease remains incompletely understood. Besides disturbed apoptosis considered to be the main molecular defect responsible for the development of CLL, some role is also attributed to activation of BCR receptor, triggering of PI3K and MEK/ERK signaling pathways, and activation of nuclear transcription factor κB (NF-κB) which result in increased proliferation of leukemic cells. Intracellular activation pathways may also be triggered by other proteins, including proteins of the TNF family. B cell activating factor (BAFF) and its homolog A proliferation inducing ligand (APRIL) are cytokines of the tumor necrosis factor (TNF) family considered to play the key role in regulation of biological function of B-lymphocytes. Interactions of both molecules with their receptors (BAFF-R, TACI, BCMA) promote survival of normal B-lymphocytes while also affecting their differentiation, maturation, chemotaxis, class switching and antibody production. According to current knowledge, malignant B-lymphocytes responsible for CLL are characterized by upregulation of these proteins and receptors which translates into deregulation of apoptosis and proliferation of cells, higher stage of the disease, and poorer prognosis. This article summarizes current knowledge on the characteristics and physiological importance of BAFF, APRIL and their receptors as well as on the established role of these proteins in the pathogenesis of chronic lymphocytic leukemia including deregulation of leukemic B-lymphocytes together with the potential for BAFF and APRIL proteins being used as prognostic markers in clinical medicine

BAFF, APRIL, and their receptors: physiological role and involvement in the pathogenesis of chronic lymphocytic leukemia

Schab Katarzyna, Urbańczuk Magdalena, Urbańczuk Marcin, Tuzim Kamila, Tuzim Tomasz, Lewicki Marcin. BAFF, APRIL, and their receptors: physiological role and involvement in the pathogenesis of chronic lymphocytic leukemia. Journal of Education, Health and Sport. 2018;8(9):1002-1009. eISNN 2391-8306. DOI http://dx.doi.org/10.5281/zenodo.1419778 http://ojs.ukw.edu.pl/index.php/johs/article/view/5994 https://pbn.nauka.gov.pl/sedno-webapp/works/877683 The journal has had 7 points in Ministry of Science and Higher Education parametric evaluation. Part b item 1223 (26/01/2017). 1223 Journal of Education, Health and Sport eissn 2391-8306 7 © The Authors 2018; This article is published with open access at Licensee Open Journal Systems of Kazimierz Wielki University in Bydgoszcz, Poland Open Access. This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author (s) and source are credited. This is an open access article licensed under the terms of the Creative Commons Attribution Non commercial license Share alike. (http://creativecommons.org/licenses/by-nc-sa/4.0/) which permits unrestricted, non commercial use, distribution and reproduction in any medium, provided the work is properly cited. The authors declare that there is no conflict of interests regarding the publication of this paper. Received: 02.09.2018. Revised: 12.09.2018. Accepted: 15.09.2018. BAFF, APRIL, and their receptors: physiological role and involvement in the pathogenesis of chronic lymphocytic leukemia Katarzyna Schab1, Magdalena Urbańczuk2, Marcin Urbańczuk3, Kamila Tuzim2, Tomasz Tuzim4, Marcin Lewicki5 Chair and Department of Clinical Immunology, Medical University of Lublin, Poland http://orcid.org/0000-0001-8516-6971 2 Chair and Department of Clinical Pathomorphology, Medical University of Lublin, Poland http://orcid.org/0000-0002-2718-8213 http://orcid.org/0000-0002-3748-1579 3Chair and Department of Family Medicine, Medical University of Lublin, Poland http://orcid.org/0000-0002-5736-1726 4 Sanus Specialist Hospital, ul. Wojska Polskiego 4, Stalowa Wola, Poland https://orcid.org/0000-0002-7793-0156 5 Chair and Department of Epidemiology and Clinical Research Methodology, Medical University od Lublin, Poland https://orcid.org/0000-0003-1906-9326 Abstract Chronic lymphocytic leukemia (CLL) is hematopoietic malignancy involving clonal proliferation and accumulation of morphologically mature yet functionally incompetent B-lymphocytes in blood, lymphoid tissue and, less commonly, extralymphatic organs. Despite significant advances in molecular characterization of CLL, the pathogenesis of the disease remains incompletely understood. Besides disturbed apoptosis considered to be the main molecular defect responsible for the development of CLL, some role is also attributed to activation of BCR receptor, triggering of PI3K and MEK/ERK signaling pathways, and activation of nuclear transcription factor κB (NF-κB) which result in increased proliferation of leukemic cells. Intracellular activation pathways may also be triggered by other proteins, including proteins of the TNF family. B cell activating factor (BAFF) and its homolog A proliferation inducing ligand (APRIL) are cytokines of the tumor necrosis factor (TNF) family considered to play the key role in regulation of biological function of B-lymphocytes. Interactions of both molecules with their receptors (BAFF-R, TACI, BCMA) promote survival of normal B-lymphocytes while also affecting their differentiation, maturation, chemotaxis, class switching and antibody production. According to current knowledge, malignant B-lymphocytes responsible for CLL are characterized by upregulation of these proteins and receptors which translates into deregulation of apoptosis and proliferation of cells, higher stage of the disease, and poorer prognosis. This article summarizes current knowledge on the characteristics and physiological importance of BAFF, APRIL and their receptors as well as on the established role of these proteins in the pathogenesis of chronic lymphocytic leukemia including deregulation of leukemic B-lymphocytes together with the potential for BAFF and APRIL proteins being used as prognostic markers in clinical medicine. Key words: TNF family proteins, BAFF, APRIL, chronic lymphocytic leukemi

Migraine - symptomatology, diagnostics, non-pharmacological and pharmacological procedures

Surprisingly, migraine is in the 3rd place of all diseases occurring in the world and affects 12% of the population, between the ages of 25 and 55. Migraine headaches significantly affect the quality of human life, while limiting proper bio-psycho-social functioning. This explains the vigorous efforts of researchers to establish the still enigmatic pathomechanism of the disease. The dichotomy of migraine is based on its division into with aura or without aura, and its semiology is extremely diverse. Pharmacological and non-pharmacological treatment of migraines should include 2 strategies: immediate, aimed at combating the seizure, and prophylactic, the goal of which is to reduce the onset of the disease

Amyotrophic lateral sclerosis – aetiology, diagnostics and multidirectional, team, long-term care

Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease of brain motoneurons and spinal cord. The incidence rate of this completely incurable condition amounts to 3 to 5 patients per 100,000 inhabitants and its characteristic feature is progressing muscle weakening that leads to respiratory muscle paralysis and death within 3-4 years. Up to now, etiopathogenesis of ALS is unknown, however, more and more often the role of genotype interaction with environmental factors is suggested. Diagnosing ALS is still based on a correlation of interview and clinical picture with the results of diagnostic imaging, electrophysiological examinations and some serological tests. Despite an enormous progress that occurred in neurobiology and molecular genetics, an effective pharmacotherapy inhibiting the development of the disease has not been developed yet, and the treatment is exclusively based on a systematic symptomatic management. Due to the above, ALS treatment is still a great challenge both for the scientists and clinicians

Post-influenza neuromuscular complications

According to the data of the World Health Organization, every year influenza develops in up to 1.575 billion people, and 1 million of them die. Although influenza viruses are the leading cause of the upper respiratory tract infections, severe neuromuscular complications occur as well, frequently leading to disability or even death. Children under five years of age and elderly people are at the highest risk of complications and mortality. The article discusses the selected neuromuscular complications of influenza, bringing particular attention to their etiology, symptomatology, diagnostics, and therapy

Non-Invasive Methods of Haemodynamic Monitoring

Diseases of the cardiovascular system are one of the most common causes of death in Poland and in the world. Along with the progress of medicine and development of diagnostic methods, there are a growing number of useful procedures allowing for better monitoring of patient’s cardiovascular parameters and thereby more effective treatment. Monitoring of haemodynamic parameters of the circulatory system is necessary in patients hospitalised in anaesthesiology departments and in most intensive cardiac care units. The methods employed to evaluate the work of the heart can be divided into invasive and non-invasive, depending on whether they require a disruption of the continuity of the patient's tissues. In view of the ease of implementation of non-invasive methods, their costs and their implementability in practically every patient, these methods are used with increased frequency, both in patient care, as well as in measurements taken for scientific purposes. In recent years, several new methods have been developed which in many aspects are by no means inferior to the "golden standard" constituted by the invasive methods. When supported by medical knowledge and experience of health care professionals, they become particularly useful and valuable for improving medical care. This paper presents the latest of the currently available methods of haemodynamic monitoring. The mechanism of action of each of them has been explained, as well as the possibilities they present, the limitations they hold and the examples of their use in patient care

The importance of selected cell adhesion molecules in thyroid cancer

Thyroid cancer is the most common malignant tumour of the endocrine system. It accounts for ca. 2% of all malignant tumours in the world, ranking it 16th in the overall classification. Its most common histology type is the papillary carcinoma originating from the epithelial tissue, which embraces approx. 50-80% of all cases. The epithelial tissue cells in normal conditions are closely interconnected by means of intercellular interactions. The adhesion process is regulated by a series of molecules, called cell adhesion molecules (CAMs). The main representatives of this group, which are increasingly better known and characterised, include the following: E-cadherin, β-catenin, CD44 and CD31 glycoproteins. CAMs regulate the course of many processes, such as differentiation, migration and growth of cells, but they also participate in the transmission of signals to the inside of the cell. Changes in the expression of cell adhesion molecules affect the disruption of the adhesion process. The recent years have seen many scientific reports on the importance of CAMs in the course of neoplastic transformation. It has been proved that abnormalities of CAM expression in many malignant tumours, including the thyroid cancer, are closely related to the increased primary invasion, distant metastasis and worse prognosis. These observations suggest that individual cell adhesion molecules may be used in the future as markers in the diagnostic process of thyroid cancers

Long-term observation of the patient after CABG with asymptomatic high-grade aortic regurgitation – a clinical case study

Introduction: The aortic valve regurgitation (AR) is a heart defect consisting of the retrograde flow of blood from the aorta to the left ventricle due to the improper closure of the aortic valve leaflets. It occurs approximately in 13% of men and 8.5% of women, and the incidence increases with age. A crucial issue in regards to a patient with asymptomatic AR, especially of a high degree, is determination of the time of qualification for invasive treatment. Aim: To draw attention to the necessity of holistic approach to a patient with asymptomatic high-grade aortic regurgitation. Moreover, the complications of delayed implementation of invasive treatment were discussed. Case report: A clinical case of a 62-year-old patient with a history of coronary artery bypass grafting and with AR – stage II, accidentally detected two years later in a control echocardiogram, was presented. Despite gradual progress of regurgitation, none of the disturbing symptoms were noted, whereas cardiac parameters were systematically monitored using ECG, ECHO and CT imaging. Beta blockers, ACE inhibitors, loop diuretics and aspirin were used as conservative treatment. After 10-year transthoracic echocardiographic follow-up due to progression of AR and development of heart failure, the patient was qualified to surgical replacement of the aortic valve. This procedure significantly improved the patient's quality of life. Summary: The key element in the treatment of chronic asymptomatic AR is the individualization of the therapy. An essential role is played by appropriate pharmacotherapy, precise monitoring using transthoracic echocardiography, which is recommended as the first-line imaging strategy. Delaying in the implementation of surgical treatment may result in failure of the therapy and the onset of serious complications