Late-onset Pompe disease - literature review and summary of current knowledge

Introduction: Pompe disease is a glycogen storage disorder caused by the deficient activity of the lysosomal enzyme acid α-glucosidase (GAA). Mutations in the GAA gene lead to the accumulation of glycogen in different organs. In a late-onset form (late-onset Pompe disease), the disease is characterized by slow, progressive proximal limb and respiratory muscle weakness. The diagnosis is based on a low level of GAA either in the muscle biopsy or in the leucocytes. LOPD is treated with enzyme replacement therapy (ERT). Purpose: Summary of currently knowladge about Late-onset Pompe disease - characteristic, diagnosis and treatment. Methods: A review of literature available in the PubMed database and Google Scholar. by searching for keywords: Pompe disease, Late-onset Pompe disease, LOPD, alglucosidase- α. Results: The diagnosis of late-onset Pompe disease can often be difficult. It is a very rare disease and the clinical presentation is similar to other neuromuscular disorders, such as Duchenne and Backer muscular dystrophies, glycogenosis or autoimmune or mitochondrial myopathies and others. Despite available specific enzyme replacement therapy LOPD is progressive. Patients require support from a multidisciplinary team of specialists, including care from neurologists, pulmonologists or physiotherapists. Conclusion: Although rare, Pompe disease should be considered in patients with proximal paresis and respiratory failure. More research into LOPD can help increasing precocity of diagnosis and treat it more effectively

Vitamin D supplementation in Polycystic ovary syndrome

Introduction and Purpose. Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women of reproductive age worldwide. Patients may present with a wide range of symptoms. According to the most commonly used Rotterdam criteria, the presence of 2 out of 3 criteria is required for diagnosis: clinical and/or biochemical markers of hyperandrogenism (HA); ovulation disorders (oligo- or anovulation); polycystic ovaries on ultrasound (PCOM); and exclusion of disorders mimicking the clinical features of PCOS. The basis of treatment are birth control pills, metformin and antiandrogens. The pathogenesis of the syndrome is not fully understood. The aim of the study is to summarize the potential health benefits of vitamin D supplementation for women with PCOS based on publications from the last 10 years available on Pubmed. State of knowledge. Vitamin D receptors have been identified not only in calcium-regulating tissues, but also in many reproductive organs, such as the ovary (especially granulosa cells), uterus, placenta, testes, as well as hypothalamus and pituitary gland. In recent years, there have been studies analyzing the effect of vitamin D supplementation on the hormonal balance, metabolism and clinical symptoms in women with PCOS. Summary. The results of studies on vitamin D supplementation in women with PCOS are mixed. Some of them are promising and confirm a beneficial effect on glucose metabolism and insulin resistance, lipid metabolism, hormonal balance, alleviation of HA-related symptoms, improvement of menstrual frequency; while the results of other studies do not show significant improvement and do not confirm these effects. Therefore, there is a need for further research on the relationship between the pathogenesis of PCOS and vitamin D and the impact of its supplementation

GLP-1 agonists in treatment of obesity

Background: Obesity is a major problem nowadays. It has correlation with metabolic and cardiovascular diseases. Due to that it is very important to diagnose and treat obesity properly. Objective: The purpose of our work is to show effectiveness of GLP1 agonist in treating obesity.  Method: A literature review was conducted in PubMed database using the key words: „Semaglutide obesity” „Tirzepatide obesity” „Liraglutide obesity” „obesity”. Results: Using particular drug in addition to lifestyle modification appears to be more effective than using placebo with lifestyle modification.  Conclusions: Trials showed effectiveness of GLP1 analogs in treatment of obesity. These drugs might be a future of managing with obesity, but we do not know yet how long lasting is the effect of these drugs. The upcoming years will bring us more trials, but in this moment we can say that they have a lot of potential.&nbsp

Adaptogens - use, history and future

Adaptogens are synthetic compounds or plant extracts that have the ability to increase the body's efficiency in the presence of stress stimuli. Extracts from ginseng, Eleutherococcus senticosus, Rhaponticum carthamoides, roseroot and chinensis are the best known plant adaptogens. The aim of this work is to assess the use of plant adaptogens in the past and present, and to outline the prospects for their future use. The use of natural adaptogens by humans has a rich history - they are used to treat many diseases, improve memory or reduce the effects of stress. Half a century ago, plant adaptogens were first used in competitive sports due to their effect on increasing the body's resistance to stress and improving physical endurance. Although many people now take plant adaptogens, human clinical trials are still very limited. Information obtained while writing this paper indicates that plant adaptogens may provide a number of benefits in the treatment of chronic fatigue, cognitive dysfunction and immune diseases

Nephrological complications in patients after COVID-19 infection

In this review, we looked for correlations and health consequences between COVID-19 infection and kidney health. Although the main symptoms of COVID-19 are respiratory failure and hypoxemia, kidney involvement is also common. In an attempt to decipher how COVID-19 infection affects the kidneys, this review focuses on the pathophysiological and clinical links between COVID-19 infection and the kidneys. The aim of this work was to find long-term health consequences in patients who were discharged from the hospital and to investigate risk factors. COVID-19-related kidney disease is reported not only in infected patients with chronic kidney disease, but also in people with no previous history of kidney disease. The disease caused by the coronavirus (COVID-19) is a threat to public health. Chronic kidney disease (CKD) has been shown to be a risk factor for side effects. Although initial reports from China showed a low incidence (5%-10%) of acute kidney injury (AKI), subsequent articles documented a much higher incidence of AKI in hospitalized COVID-19 patients. Overall, renal biopsies showed a variety of histopathology, including acute glomerulonephritis and acute tubular injury. The pathophysiology of COVID-19-associated AKI is believed to include local and systemic inflammatory and immunological reactions, endothelial damage, and activation of coagulation pathways and the renin-angiotensin system. Histopathology results revealed both similarities and differences between AKI in COVID-19 patients and AKI patients in non-COVID-19 sepsis. Acute tubular injury is common, although it is often mild despite greatly reduced kidney function. Systemic haemodynamic instability most likely contributes to renal tubular damage. Despite the description of COVID-19 as a cytokine storm syndrome, circulating cytokine levels are often lower in patients with COVID-19 than in patients with acute respiratory distress syndrome from causes other than COVID-19. Also, an impaired response to type I interferon has been detected in patients with severe COVID-19. In the light of these observations, the potential pathophysiological mechanisms of COVID-19-associated AKI may provide knowledge to construct therapeutic strategies

Trichotillomania – therapeutic possibilities

Introduction: Trichotillomania is a mental disorder in which the patient persistently and recurrently pulls out his own hair, which results in varying degrees of hair loss. This causes considerable suffering and impairs quality of life, but patients rarely seek specialist help. It affects 0.5–3% of the general population, but data may be underestimated due to low reporting. Aim of the study: The aim of our study is to summarize the current state of knowledge on the treatment of trichotillomania. Materials and methods: The literature available in the PubMed and Google Scholar database was reviewed using the following keywords: "trichotillomania", "trichophagia", "trichobeozar", "trichotillomania treatment". Results: Treatment of TTM is difficult and involves many methods. The division of therapeutic methods focuses mainly on psychotherapy and pharmacological treatment. The greatest effectiveness is attributed to cognitive-behavioral therapy, especially habit reversal training. Medications can help reduce symptoms, especially in the presence of other disorders, e.g. depression, anxiety disorders. Conclusions: Trichotillomania contributes to significant suffering and negatively affects functioning in social and professional life. The basis of its treatment is psychotherapy, but there are many reports on the effectiveness of selected drugs (SSRIs, clomipramine, antipsychotics, N-acetylcysteine, naltrexone, lamotrigine, bupropion, dronabinol, inositol), but they require further research on a larger group of patients

Effect of mediterranean diet on non-alcoholic fatty liver disease (NAFLD)

Introduction and purpose of the work: Non-alcoholic fatty liver disease (NAFLD) is a common condition in the general population. In its course, excessive fatty acids are deposited in liver cells. The best way to prevent it is to reduce weight by being physically active and eating a proper low-calorie diet. The purpose of this study is to describe the potential health benefits of the mediterranean diet in people with NAFLD. For this purpose, the literature available in the PubMed database was reviewed using the following keywords: mediterranean diet; non-alcoholic fatty liver disease (NAFLD); non-alcoholic steatohepatitis (MASH). State of the knowledge: The mediterranean diet is rich in fruits, vegetables, nuts, fish, olive oil and whole-grain products. It has the effect of decreasing insulin resistance, which is a major cause of NAFLD. In addition, it exerts anti-inflammatory and antioxidant properties. In recent years, numerous clinical studies have been conducted analyzing the effects of this diet on laboratory results, liver steatosis and progression to steatohepatitis (MASH) in patients with NAFLD. Conclusions: The results of the studies show that following a mediterranean diet can prevent as well as alleviate the course of this disease. However, there is a need for more clinical studies, on larger groups of people to recognize the mediterranean diet as an effective form of NAFLD therapy

Ovarian sclerosing stromal tumor - benign neoplasm of the young. A case study with literature review

Sclerosing stromal tumor (SST), located in the ovary, is a very rare disease entity. To date, only a few hundred cases of ovarian SST have been confirmed worldwide. Preoperative diagnosis of stromal tumor is difficult, as clinically and radiologically it resembles other types of ovarian tumors. These tumors present nonspecific symptoms, with irregular menstrual bleeding, lower abdominal pain and palpable pelvic lesions being the most common. Differentiation and diagnosis is possible only thorough histopathological examination and immunophenotyping. In the present study, we presented a case report of a young, 20-year-old patient with an oligosymptomatic  ovarian stromal tumor. We compared and summarized the diagnostic and therapeutic process, as well as the tumor immunophenotypes, with recent cases reported in the literature

Mass and volume balances of nebulization processes for the determination of the expected dose of liquid medicines delivered by inhalation

The works presents the application of mass/volume balances of liquid drug converted into the aerosol during atomization in medical nebulizers. The amount of liquid that can be delivered to the respiratory system during inhalation is reduced compared to the nominal dose not only because of drug losses both in the device (the residual volume, RV) and outside the nebulizer (in the mouthpiece, mask, or tubings), but also to the limitations of the patient (periodic flow with limited capacity). The paper should help to understand the complexity of aerosol therapy widely used in asthma, COPD and other pulmonary diseases

Mental disorders : attitudes towards people with mental illness and their treatment

Celem artykułu jest przybliżenie problematyki postrzegania zaburzeń psychicznych i jego wpływu na zdrowie psychiczne osób chorych. Przybliżono pokrótce zarys historycznego interpretowania i postrzegania zaburzeń psychicznych od starożytności aż po czasy obecne. Następnie przedstawiono sytuację aktualną, rozpoczynając od analizy postaw dyskryminujących i stygmatyzujących osoby z zaburzeniami psychicznymi oraz tego, jaki może mieć to wpływ na ich codzienne funkcjonowanie i podejmowane przez nie próby szukania pomocy. Szczególną uwagę zwrócono na kwestię postrzegania zaburzeń psychicznych w rodzinie osób chorych. Przeanalizowano także relację miedzy postrzeganiem zaburzeń psychicznych przez społeczeństwo a poszukiwaniem profesjonalnej pomocy psychologicznej lub psychiatrycznej. Dokonano również przeglądu prac dotyczących postrzegania zaburzeń poza europejskim kręgiem kulturowym, szczególną uwagą obdarzając Bliski Wschód, Chiny, Afrykę Subsaharyjską i Indie.The main purpose of this article was to present the problematic aspects of perception of mental illnesses and its influence on people struggling with mental disorders. The article presents a historic overview of perception and interpretation of mental illnesses from antique to present times. The analysis of present times focuses on discriminatory attitudes, stigmatization of people with mental illness and effects that those factors can have on the mental health as well as professional help seeking processes. The analysis has then been extended to non-European regions such as Middle East, India, China and Sub-Saharan Africa. In addition to this, the article explores attitudes towards mental illnesses and mental illness perception among families of patients with mental disorders