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

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

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

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

In-depth studies of ground- and excited-state properties of Re(I) carbonyl complexes bearing 2,2′:6′,2′′-terpyridine and 2,6-bis(pyrazin-2-yl)pyridine coupled with π‑conjugated aryl chromophores

In the current work, comprehensive photophysical and electrochemical studies were performed for eight rhenium(I) complexes incorporating 2,2′:6′,2″-terpyridine (terpy) and 2,6-bis(pyrazin-2-yl)pyridine (dppy) with appended 1-naphthyl-, 2-naphthyl-, 9-phenanthrenyl, and 1-pyrenyl groups. Naphthyl and phenanthrenyl substituents marginally affected the energy of the MLCT absorption and emission bands, signaling a weak electronic coupling of the appended aryl group with the Re(I) center. The triplet MLCT state in these complexes is so low lying relative to the triplet 3ILaryl that the thermal population of the triplet excited state delocalized on the organic chromophore is ineffective. The attachment of the electron-rich pyrenyl group resulted in a noticeable red shift and a significant increase in molar absorption coefficients of the lowest energy absorption of the resulting Re(I) complexes due to the contribution of intraligand charge-transfer (ILCT) transitions occurring from the pyrenyl substituent to the terpy/dppy core. At 77 K, the excited states of [ReCl(CO)3(Ln-κ2N)] with 1-pyrenyl-functionalized ligands were found to have predominant 3ILpyrene/3ILCTpyrene→terpy character. The 3IL/3ILCT nature of the lowest energy excited state of [ReCl(CO)3(4′-(1-pyrenyl)-terpy-κ2N)] was also evidenced by nanosecond transient absorption and time-resolved emission spectroscopy. Enhanced room-temperature emission lifetimes of the complexes [ReCl(CO)3(Ln-κ2N)] with 1-pyrenyl-substituted ligands are indicative of the thermal activation between 3MLCT and 3IL/3ILCT excited states. Deactivation pathways occurring upon light excitation in [ReCl(CO)3(4′-(1-naphthyl)-terpy-κ2N)] and [ReCl(CO)3(4′-(1-pyrenyl)-terpy-κ2N)] were determined by femtosecond transient absorption studies

Dietary treatment in infants with cow’s milk allergy and the role of the gut microbiota in development, course and prevention of CMA

Niniejsza praca została poświęcona tematyce alergii na białka mleka krowiego. Najważniejszym celem było omówienie postępowania dietetycznego w AMBK u niemowląt, co zostało ujęte w pierwszym rozdziale. Wynika z niego, że u dzieci z AMBK dieta eliminująca wszelkie źródła białka mleka krowiego pozwala na złagodzenie objawów, regenerację błony śluzowej przewodu pokarmowego oraz osiągnięcie tolerancji. Zostały przedstawione preparaty mlekozastęcze dla dzieci z AMBK, mleka inne niż krowie oraz omówiono zalety karmienia naturalnego. Dokonano również analizy jadłospisu niemowląt z AMBK, co pozwoliło na wysunięcie wniosku, że dieta tych niemowląt pokrywa zapotrzebowanie na białko i wapń, natomiast w przypadku witaminy D oraz kwasu DHA konieczna jest suplementacja. Kolejnym celem pracy było przedstawienie znaczenia mikrobioty jelit w AMBK i właśnie tego zagadnienia dotyczy drugi rozdział. Wynika z niego, że w postępowaniu terapeutycznym należy zwrócić uwagę także na mikrobiotę jelit, gdyż ma ona wpływ zarówno na rozwój układu immunologicznego jak i na szczelność nabłonka jelit. W rozdziale tym została przedstawiona rola probiotyków i prebiotyków w AMBK, co pozwoliło na wysunięcie wniosku, że w złagodzeniu objawów oraz osiągnięciu tolerancji na białka mleka krowiego pomocne mogą być probiotyki zawierające takie szczepy bakterii jak: Lactobacillus rhamnosus, Lactobasillus casei i Lactobacillus paracasei.The cow's milk allergy is the topic of this elaboration. The most important goal was to discuss the dietary management in infants with CMA so this was included in the first chapter. This part of the essay shows, that in children with CMA, diet eliminating all sources of cow's milk proteins allows to relieve the symptoms, regenerate the gastrointestinal mucous and achieve tolerance. There were presented milk formulas, milk of mammals other than cow and the benefits of breastfeeding. There were also made analysis of diet infant with CMA. It has been shown that this milk free diet covers the calcium and proteint requirements, while for vitamin D and DHA the supplementation is needed. Another aim of this essay was to present the importance of intestinal microflora in CMA, so this is the topic of second chapter. This part shows that in the CMA therapeutic procedure, attention should also be paid to intestinal microflora, because it affects both to the development of the immune system and the intestinal epithelial tightness. This chapter outlines the role of probiotics and prebiotics in AMBK and suggests, that probiotics containing strains of Lactobacillus rhamnosus, Lactobasillus casei, and Lactobacillus paracasei may be helpful in relieving symptoms of CMA and achieving tolerance to cow's milk proteins