SMA Therapy in Poland: New Hopes and Challenges

Abstract: Spinal muscular atrophy (SMA) is a genetically inherited disease whose symptoms appear in children at a fairly early age. The main cause of the disease is a mutation of the SMN1 gene, which causes the lack of production of SMN This results in the disappearance of motoneurons, which consequently leads to the disappearance of the patient's ability to move and his death. An important element of coping with the disease is its early detection in newborn screening, because the earlier we start the drug, the greater the chance that the patient will maintain motor efficiency. The article describes treatment options for children in Poland, i. e. the use of such drugs as Nusinersen, which increases the amount of SMN protein, gene therapy Onasemnogen aeparvovec, which increases the amount of SMN gene, Ridisplam, which increases the amount of SMN protein, and salbutamol, which helps patients to breathe. The article also provides information about new drug therapies for the treatment of SMA and the stage of clinical trials at which they are currently being developed. It is important to look for new solutions in the treatment of SMA. Objective: To familiarize the readers of the article with the problems of SMA treatment in Poland, as well as to broaden their knowledge of new available drugs for the treatment of this disease

Diagnostic and therapeutic process of respiratory disorders during sleep

Introduction and purpose Sleep apnea is a disturbance of sleep that affects about 10% of adult population and is not easily detected due to unspecific symptoms. The aim of this literature review is to present, respectively, obstructive sleep apnea and central sleep apnea symptoms and integrate the available data in the literature regarding the pathogenesis and treatment methods. Materials and methods A review of literature was performed using PubMed and Google Scholar database. The search criteria included keywords such as sleep apnea, obstructive sleep apnea treatment, central sleep apnea treatment. State of knowledge Sleep disturbances that involve breathing can be categorized as obstructive sleep apnea (OSA) and central sleep apnea. First one is associated with the obstruction of the upper airways and the second one – with malfunctioning breathing generator in the pontomedullary breathing pacemaker. Symptoms are unspecific which makes diagnostic process difficult. However, the right diagnosis and treatment may prevent patients from developing many cardiovascular diseases. Treatment options for OSA include: CPAP, reducing body weight, changing sleep position, braces and surgeries; for CSA: CPAP and acetazolamide. Conclusions OSA and CSA need to be further investigated in order to find more precise ways of diagnosis and treatment, as these diseases remain underreported. It is worth noting, that these conditions predispose to serious diseases, e.g. stroke. Therefore, developing new treatment techniques would beneficial for the health of population

PCOS as a generational disease - risks to mother and children

INTRODUCTION: Polycystic ovary syndrome (PCOS) is the dominant endocrine and metabolic disorder in young women. The incidence has increased significantly over the years and now affects approximately 6-20% of women of childbearing age. AIM: The aim of the work is to present the current state of knowledge about PCOS, to show what complications it brings and to present the disease as a multi-generational problem. TECHNICAL CONDITION. DESCRIPTION: It is widely accepted that hyperandrogenism plays a fundamental role in the development of most of the reproductive and metabolic disorders associated with PCOS. Excess androgens have a detrimental effect on the metabolic homeostasis of women with PCOS, acting on various metabolic tissues. PCOS is associated with reduced fertility or infertility. Women should be aware of factors affecting fertility, especially the effects of obesity and age. After pregnancy, women with PCOS have a significantly increased risk of pregnancy-related complications, including gestational diabetes, high blood pressure disorders, preterm and caesarean delivery, and pre-eclampsia.The offspring of women with PCOS may have an increased risk of birth defects and hospitalization in childhood. According to the DOHaD theory, the unfavorable uterine environment caused by mothers with PCOS, consisting in changes in fetal metabolism, may increase the susceptibility of the offspring to diseases in adulthood, according to the DOHaD theory. In addition, the offspring of PCOS are prone to a range of metabolic diseases in early adulthood, which will also affect the health of their children. CONCLUSION: The effects of endocrine disorders affect women with PCOS as well as their offspring. Diet, weight maintenance, physical activity, anti-androgenic drugs and metformin are recommended to reduce symptoms in mothers and their children. Breaking the vicious circle of intergenerational transmission remains a huge challenge

The role of the gut microbiota and the use of new therapies in Irritable Bowel Syndrome

Introduction: Irritable bowel syndrome is a functional disorder of the gastrointestinal tract with a multifactorial nature of the disease. IBS affects 11% of the population, with the gut microbiota playing an important role in the pathophysiology. Purpose: The aim of this article is to present the course of irritable bowel syndrome, the role of the gut microbiota in pathophysiology, and new therapeutic approaches, including probiotics, based on the current state of knowledge. Conclusions: IBS is a syndrome whose exact pathophysiology is not fully understood. The state of the gut microbiota has a huge impact on the course of the disease, but also on the functioning of the whole body. New therapies currently in use, i.e. probiotics, are showing promising results, but more research is needed to find the golden mean to treat the disease. Methods: Data for the article were retrieved using PubMed setting the time descriptors to 2013-2023. Irritable bowel syndrome is one of the more common functional disorders of the gastrointestinal tract. It manifests as recurrent abdominal pain, discomfort and bloating accompanied by bowel movements without a direct underlying cause. From multicentre clinical studies, it is known that disorders of various mechanisms within the brain-gut axis, altered gastrointestinal motility and visceral hypersensitivity are the underlying causes. In addition, many scholars are of the opinion that disturbances in the gut microbiota play a key role in the pathogenesis of IBS

Hashimoto's disease - the role of factors and diet in the course of the disease

Introduction: Hashimoto's disease is an autoimmune disorder that develops as a result of a pathological reaction of the patient's immune system, which consequently destroys the body's own healthy cells and tissues. Genetic, environmental and immunological factors influence its development. The disease may initially be asymptomatic. The exact aetiology of the disease is unknown. The worldwide incidence is approximately 10-12%. Purpose: This paper aims to present the influence of genetic factors, environmental factors, trace elements, and diet on the development and course of Hashimoto's disease based on the current state of knowledge. Conclusions: Hashimoto's disease is a multifactorial disease, but the relevance of all factors presented in the development and progression has not yet been confirmed. To date, a special diet for patients has not been created. Further research is needed to better understand the pathogenesis of the disease in order to help patients control HT. Methods: Data for the article were retrieved using PubMed setting the time descriptors to 2013-2023

The impact of the SARS-CoV-2 infection on the risk of developing preeclampsia

Introduction and purpose:    The COVID-19 pandemic has significantly affected the health, life and quality of life of many people around the world. It caused huge changes in the daily functioning of entire societies. Pregnant women are a unique group of people who are particularly at risk. They are accompanied by fear for their health, but also fear of the impact of the disease on their offspring. The pandemic has also caused new challenges for mothers-to-be that have not occurred so far. In this paper, we would like to present the current state of knowledge on the impact of SARS-CoV-2 infection on the risk of developing pre-eclampsia.   State of knowledge:   We analyzed studies showing the impact of COVID-19 infection on the health of pregnant women, especially on the risk of developing pre-eclampsia. Data from many studies are contradictory. Some studies do not indicate a significant impact of coronavirus infection on the development of pre-eclampsia. Some of them confirm a higher incidence of pre-eclampsia in pregnant women with confirmed COVID-19 infection.   Conclusions:   Despite the experience gained, there are still many unknowns. Thanks to research, we have more and more knowledge about the course of COVID-19 in pregnant women and its impact on their lives. Many observations are still needed to formulate clear conclusions about the impact of COVID-19 on the risk of developing pre-eclampsia. It is also necessary to continue to educate women, encourage compliance with the recommendations of doctors and the World Health Organization to prevent the spread of coronavirus

The impact of indoor air pollution on the lung cancer – literature review

Introduction: Lung cancer is the most diagnosed type of cancer and the leading cause of death around the world. The most important risk factor for lung cancer is tobacco smoking. However, there are a lot of other lung cancer risk factors, which include: second-hand smoke exposure, environmental exposures (indoor and outdoor air pollution), occupational exposures, genetic predisposition, and previous lung disease. In this study, we would like to present the actual state of knowledge about the influence of radon as well as other indoor air pollutants on the prevalence of lung cancer. State of knowledge: We analyzed nineteen studies in terms of the impact of indoor air pollution on morbidity and mortality caused by lung cancer. The authors of the included studies agree that both radon and other household air pollution (HAP) increase risk of the lung cancer. HAPs are formed during the combustion of solid fuels (i.e. charcoal, wood). Indoor air pollution can cause in the lungs chronic inflammation, cells damage and their proliferation, depletion of antioxidants, impairment of defense mechanisms, production of reactive oxygen species as well as genetic mutations. Radon, on the other hand, emits alpha radiation, which can affect the respiratory epithelium and produce various cytotoxic and genotoxic effects, which promote carcinogenesis. The risk of lung cancer rises by approximately 6-16% per 100 Bq/m3 increase in long-time average residential radon concentration.  Conclusions: Radon and other indoor air pollutants are crucial lung cancer risk factors. It is essential to reduce HAPs production, especially in rural areas, where many people still use coal, wood, or straw for household heating and cooking. Moreover, there are regions where is a need to improve ventilation as well as to switch to clean fuel sources, such as gas and electricity. These activities will contribute to reducing the concentration of HAPs in buildings and decreasing the risk of lung cancer

The role of the gut microbiota and the use of new therapies in Irritable Bowel Syndrome

Introduction: Irritable bowel syndrome is a functional disorder of the gastrointestinal tract with a multifactorial nature of the disease. IBS affects 11% of the population, with the gut microbiota playing an important role in the pathophysiology. Purpose: The aim of this article is to present the course of irritable bowel syndrome, the role of the gut microbiota in pathophysiology, and new therapeutic approaches, including probiotics, based on the current state of knowledge. Conclusions: IBS is a syndrome whose exact pathophysiology is not fully understood. The state of the gut microbiota has a huge impact on the course of the disease, but also on the functioning of the whole body. New therapies currently in use, i.e. probiotics, are showing promising results, but more research is needed to find the golden mean to treat the disease. Methods: Data for the article were retrieved using PubMed setting the time descriptors to 2013-2023. Irritable bowel syndrome is one of the more common functional disorders of the gastrointestinal tract. It manifests as recurrent abdominal pain, discomfort and bloating accompanied by bowel movements without a direct underlying cause. From multicentre clinical studies, it is known that disorders of various mechanisms within the brain-gut axis, altered gastrointestinal motility and visceral hypersensitivity are the underlying causes. In addition, many scholars are of the opinion that disturbances in the gut microbiota play a key role in the pathogenesis of IBS

Hashimoto's disease - the role of factors and diet in the course of the disease

Introduction: Hashimoto's disease is an autoimmune disorder that develops as a result of a pathological reaction of the patient's immune system, which consequently destroys the body's own healthy cells and tissues. Genetic, environmental and immunological factors influence its development. The disease may initially be asymptomatic. The exact aetiology of the disease is unknown. The worldwide incidence is approximately 10-12%. Purpose: This paper aims to present the influence of genetic factors, environmental factors, trace elements, and diet on the development and course of Hashimoto's disease based on the current state of knowledge. Conclusions: Hashimoto's disease is a multifactorial disease, but the relevance of all factors presented in the development and progression has not yet been confirmed. To date, a special diet for patients has not been created. Further research is needed to better understand the pathogenesis of the disease in order to help patients control HT. Methods: Data for the article were retrieved using PubMed setting the time descriptors to 2013-2023

Profil kwasów tłuszczowych mleka koziego w zależności od sezonu żywienia

Celem pracy było określenie wpływu sezonu żywienia kóz – letnie i zimowe na profil kwasów tłuszczowych mleka koziego. Praca została sporządzona na podstawie badań przeprowadzonych w latach 2010 - 2012 w gospodarstwie położonym w województwie warmińsko – mazurskim. Materiał badań stanowiło mleko pobrane od kóz rasy alpejskiej. W produkcie dokonano oznaczenia składu kwasów tłuszczowych. Stwierdzono, że żywienie wywiera istotny wpływ na skład kwasów tłuszczowych w tłuszczu mleka. Produkt z sezonu letniego charakteryzował się wyższą zawartością kwasów: C6:0, C8:0, CLA (p ≤ 0,01) i C4:0, C10:0, C18:3 (p ≤ 0,05). Mleko pochodzące z lata charakteryzowało się mniejszą zawartością kwasów tłuszczowych C15:0 (p ≤ 0,05), C17:1 i C18:1 (p ≤ 0,01). W okresie żywienia letniego zaobserwowano wyższą zawartość kwasów tłuszczowych nasyconych SFA w odniesieniu do produktu z zimy. Nienasycone kwasy tłuszczowe UFA odznaczały się większym udziałem w analizowanym tłuszczu zimą niż latem (p ≤ 0,05). W obu okresach żywieniowych wśród nienasyconych kwasów UFA dominowały jednonienasycone MUFA, jednak było ich proporcjonalnie więcej w produktach pozyskanych zimą. Tym samym kwasów wielonienasyconych PUFA było więcej w mleku otrzymanym latem (p ≤ 0,05). Stwierdzono zatem, że żywienie pastwiskowe wywiera korzystniejszy wpływ na skład kwasów tłuszczowych w mleku kozim, czyniąc go produktem o bardziej pożądanym składzie z punktu widzenia konsumenta