Principles of nutrition in chronic kidney disease in children - a review of the clinical trials and recommendations

Introduction: Children with chronic kidney disease (CKD) require a specialized diet to manage their condition and support healthy growth and development. A proper diet for children with CKD aims to control the intake of certain nutrients, such as protein, lipid, calcium, phosphorus, potassium, sodium, and vitamin D, while ensuring they receive adequate nutrition for growth and development. Aim of the study: This article discusses the epidemiology, causes and pathomechanism of CKD in children. It also presents existing clinical trials and dietary recommendations from societies such as Kidney Disease: Improving Global Outcomes (KDIGO) 2024, Kidney Disease Outcomes Quality Initiative (KDOQI) and Pediatric Renal Nutrition Taskforce (PRNT) and identifies potential sources of selected macronutrients and micronutrients in children's diets. Materials and methods: Comprehensive literature searches were performed across the main electronic databases of PubMed, Google Scholar, KDIGO2024, KDQQI and PRNT recommendations for studies published in the English language about dietary recommendations for children with CKD. Results: The approach to nutrition for children with CKD is still evolving, and specific macronutrient and micronutrient ratios should be established based on the clinical condition, the child's age, and body weight. Care should be taken to ensure that the child's diet is varied, and a healthy eating style should be promoted

Biological treatment options for severe asthma in Poland

Intruduction and purpose: Patients with severe asthma account for approximately 3% to 10% of all asthma patients. They have higher hospital utilization rates and treatment costs than patients with non-severe asthma. Previously, treatment options for these patients were limited due to unacceptable side effects. However, the advent of biologic therapies has provided promising targeted therapy for these patients. State of knowledge: Biologic therapies target inflammatory modulators that play a key role in the pathogenesis of asthma, particularly in patients with high T2 cells. These therapies have shown promising results in reducing asthma symptoms, improving lung function, decreasing the use of oral corticosteroids, and enhancing patients' quality of life. Conclusions: This article reviews the mechanism of action, efficacy, and indications of currently approved biologic drugs available in Poland, as well as potential therapeutic targets for the future

Gaucher’s Disease – current state of knowledge and future perspectives?

Introduction and purpose: Gaucher's Disease (GD), a rare genetic disorder, is a difficult challenge in genetic and metabolic disorders. The aim of this review is to provide an exploration of GD, spanning its pathophysiology to the latest advancements in diagnostic and therapeutic innovations. In this review we aimed to underscore the challenges it presents and the ongoing efforts to overcome them. State of knowledge: GD, characterized by the accumulation of glucocerebroside, involves molecular, cellular, and systemic dysfunctions. At the molecular level, mutations in the GBA gene give rise to diverse manifestations, influencing disease severity. Cellular disruptions lead to lysosomal dysfunction, altered calcium homeostasis, and chronic inflammation, impacting various organ systems. Diagnostic approaches involve biomarkers, genetic testing, and imaging studies, each playing a crucial role in confirming the disease type and assessing its grade. Summary: Management and treatment strategies for GD have evolved, with enzyme replacement therapy and substrate reduction therapy serving as the basics. However, challenges persist, including limited efficacy in treating neurological symptoms and the high cost of treatments. The review highlights ongoing research and future perspectives in GD therapy

Effect of creatine supplementation on cognitive function and mood

Background: Creatine, a naturally occurring compound plays a crucial role in cellular energy metabolism, particularly in tissues with high energy demands like muscles and the brain. Beyond its well-established role in physical performance enhancement, recent research has revealed its potential benefits for cognitive functions and mood regulation. This review paper aims to comprehensively analyze the existing literature on creatine supplementation's effects on cognitive functions and mood. State of Knowledge: Findings suggest that creatine supplementation enhances memory, attention, and executive functions, especially under conditions of stress or sleep deprivation. Moreover, it exhibits mood-stabilizing effects, potentially offering relief for symptoms of depression and fatigue. Creatine's ability to augment brain energy metabolism, alongside its neuroprotective properties, underlies its cognitive and mood-enhancing effects. While generally safe, caution is advised, particularly in populations with kidney diseases or those using medications affecting kidney function. Summary: Creatine emerges as a promising adjunct therapy for enhancing cognitive functions and promoting emotional well-being beyond its traditional role in physical performance.The review underscores the need for further research to elucidate the precise mechanisms of creatine's effects and explore its synergistic potential with other cognitive-enhancing supplements. &nbsp

Applications of gene modification technologies in the treatment of inherited diseases

Introduction and Purpose: In last years gene modification technologies such as CRISPR/Cas9 has had a revolutionary impact on the treatment of inherited diseases. Technologies developed from bacterial defense mechanisms, has become a basic tools in scientific research and medical therapies. In our article we provided an overview of applications of gene modifications technologies, directly focusing on CRISPR/Cas9, in genetic disease treatment.   State of Knowledge: New applications of CRISPR/Cas9 are still being explored. Treating inherited diseases such as cystic fibrosis, Duchenne muscular dystrophy, thalassemia, hemophilia, Huntington's disease, Crigler-Najjar syndrome, sickle cell anemia, Marfan syndrome, and phenylketonuria, is feasible with this novel technique. A comparative analysis with other gene editing methods highlights CRISPR/Cas9's efficacy, ease of use, and multiplexing capabilities.   Summary: CRISPR/Cas9 is a groundbreaking technology with broad applications in genetic research and therapy. Its ease of use, cost-effectiveness, and ability to target multiple genes simultaneously position it as a preferred method. However, there are some challenges associated with precision issues and ethical considerations in human embryo gene editing. As CRISPR/Cas9 continues to evolve, responsible application and ethical considerations are important for maximizing its potential in treatment of genetic diseases

The importance of using methods of selective modification of neuronal function in the pathogenesis and therapy of Parkinson's disease

Introduction: Parkinson's disease (PD) is one of the most common neurodegenerative diseases that mainly affects older people over 60 years of age. Since life expectancy is increasing not only in Europe but also around the world, the number of people suffering from PD will gradually increase. State of knowledge: One of the newest techniques used to study the mechanisms of diseases of the nervous system, which allows monitoring the activity of neurons by modifying their functions, is optogenetics. This method involves controlling neuronal activity using light. The sensitivity of cells to light is achieved by introducing into the body the genes of ion channels from algae or bacteria, which are incorporated into the cell membrane and then become excited when exposed to light. Depending on the gene used, the activity of a nerve cell can be intensified or inhibited. An important advantage of the method is the possibility of using it in vivo and recording the results in real time. Summary: This publication aims to present the basics of optogenetics and is a review of works related to its use in the study of PD pathomechanism. For this purpose, the PubMed and Google Scholar databases were verified using the following words: "Parkinson optogenetic", "optogenetic stimulation", "channelrhodopsin"

Gut Microbiota and Its Implications for Cardiovascular Diseases – a Review

Background: The symbiotic relationship between the gut microbiota and cardiovascular health has become a main point in contemporary research, offering valuable insights into the pathogenesis of cardiovascular diseases (CVDs). This review aims to comprehensively examine the bidirectional communication between gut microbial communities and the cardiovascular system, explaining the intricate mechanisms that connect gut dysbiosis to the initiation and progression of CVDs. Material and Methods: A systematic literature review was conducted to compile and analyze relevant studies investigating the impact of the gut microbiota on cardiovascular health. Emphasis was placed on explaining the molecular and physiological mechanisms underlying the interaction between gut microbes and cardiovascular function. Results: Our review confirmed evidence linking gut microbiota-derived metabolites, such as short-chain fatty acids, trimethylamine N-oxide and lipopolysaccharides to vascular function and inflammation. Additionally, we explored the modulation of host metabolism and immune responses by gut microbes, providing insights into their roles in atherosclerosis and hypertension. The review highlight the influence of diet and lifestyle on shaping the gut microbiome and, consequently, cardiovascular outcomes. Conclusions: Gut microbiota plays a crucial role in cardiovascular health and is involved in the start and development of various heart diseases. The identified molecular and physiological mechanisms highlight the need for complete understanding of the gut-cardiovascular axis. Moreover, the review emphasizes the potential of microbiota-targeted interventions, including probiotics and fecal microbiota transplantation, as innovative strategies for preventing and managing CVDs

The Rising Importance of Proton Magnetic Resonance Spectroscopy in the Diagnosis of Selected Neurodegenerative Diseases of the Brain

Introduction: Neurodegenerative diseases pose a significant diagnostic challenge due to the increasing elderly population and the rising prevalence of these conditions. State of Knowledge: Differential diagnosis among these diseases is particularly challenging; thus, numerous clinical trials have been conducted to identify markers that could facilitate accurate disease diagnosis. Among various diagnostic approaches, imaging techniques play a crucial role, especially magnetic resonance imaging (MRI), which includes advanced modalities such as proton magnetic resonance spectroscopy (¹H-MRS). ¹H-MRS offers a non-invasive assessment of neurometabolite profiles, providing critical information that aids in precise diagnosis. Conclusions: With ongoing clinical trials, the importance of ¹H-MRS in diagnosing neurodegenerative diseases continues to grow. This paper reviews the results of recent and relevant clinical trials examining changes in ¹H-MRS in the most prevalent neurodegenerative diseases

Applications of gene modification technologies in the treatment of inherited diseases

Introduction and Purpose: In last years gene modification technologies such as CRISPR/Cas9 has had a revolutionary impact on the treatment of inherited diseases. Technologies developed from bacterial defense mechanisms, has become a basic tools in scientific research and medical therapies. In our article we provided an overview of applications of gene modifications technologies, directly focusing on CRISPR/Cas9, in genetic disease treatment.   State of Knowledge: New applications of CRISPR/Cas9 are still being explored. Treating inherited diseases such as cystic fibrosis, Duchenne muscular dystrophy, thalassemia, hemophilia, Huntington's disease, Crigler-Najjar syndrome, sickle cell anemia, Marfan syndrome, and phenylketonuria, is feasible with this novel technique. A comparative analysis with other gene editing methods highlights CRISPR/Cas9's efficacy, ease of use, and multiplexing capabilities.   Summary: CRISPR/Cas9 is a groundbreaking technology with broad applications in genetic research and therapy. Its ease of use, cost-effectiveness, and ability to target multiple genes simultaneously position it as a preferred method. However, there are some challenges associated with precision issues and ethical considerations in human embryo gene editing. As CRISPR/Cas9 continues to evolve, responsible application and ethical considerations are important for maximizing its potential in treatment of genetic diseases

Biological treatment options for severe asthma in Poland

Intruduction and purpose: Patients with severe asthma account for approximately 3% to 10% of all asthma patients. They have higher hospital utilization rates and treatment costs than patients with non-severe asthma. Previously, treatment options for these patients were limited due to unacceptable side effects. However, the advent of biologic therapies has provided promising targeted therapy for these patients. State of knowledge: Biologic therapies target inflammatory modulators that play a key role in the pathogenesis of asthma, particularly in patients with high T2 cells. These therapies have shown promising results in reducing asthma symptoms, improving lung function, decreasing the use of oral corticosteroids, and enhancing patients' quality of life. Conclusions: This article reviews the mechanism of action, efficacy, and indications of currently approved biologic drugs available in Poland, as well as potential therapeutic targets for the future