Introduction: Pompe disease (PD) is a rare metabolic disorder caused by a partial or complete deficiency of acid α-glucosidase (GAA) which leads to lysosomal accumulation of glycogen. Excessive amounts of glycogen accumulate mainly in the cells of the heart and skeletal muscles and cause dysfunction of these tissues. It is inherited in an autosomal recessive manner. The most common diagnostic methods include genetic tests and the measurement of enzyme activity in leukocytes or fibroblasts. A screening test is also available that tests the enzyme activity in dried blood spot (DBS). The treatment of PD is mostly based on synthetic GAA enzyme supply to the patients. The therapy reduces glycogen storage and improves muscle function, decreases heart size and prolongs the lives of those with infantile form of PD. In the adult onset of the disease treatment increases physical efficiency and reduces the progression of respiratory failure. Aim of the study: Systematization of current knowledge about Pompe disease with particular emphasis on possible clinical presentations, diagnostics and therapeutic options. Material and methods: Literature review based on PubMed data using the following keywords: Pompe disease, Glycogenosis type ii, glucosidase alpha Summary : Pompe disease is a rare disease with many problems related to diagnosis and possible therapies. Its symptoms can be very misleading and cause a delay in diagnosis . It is critical to start the therapy as soon as possible to best manage the disease. The prognosis of PD is poor, especially in children under 12 months of age. Gene therapy research is currently underway and early results are very promising. There is still much to learn about dealing with this disease.

Background: Telemedicine is one of the most modern and fastest-growing branches of medicine. The most common form is video consultation. We distinguish between synchronous and asynchronous telepsychiatry. This study aims to show the benefits of using telepsychiatry services, the challenges it poses to users, and to evaluate its use against traditional therapy. Materials and methods: A review of literature from 1956-2023 in EMBASE, OpenKnowledge and PubMed databases was conducted. Keywords used were: telepsychiatry, teletherapy, and digital psychiatry. Ninety-eight articles were included. Discussion: Telepsychiatry is an opportunity for regions affected by medical staff shortages. It bypasses cultural barriers, the problem of traveling and reduces the cost of medical point-of-service. Telepsychiatry is an opportunity for patients who do not use psychiatrists due to discrimination in a conservative society. Groups that may find it challenging include the elderly, the blind, and the deaf. Creating a healthy therapeutic alliance through a screen can be impossible, making it difficult to achieve successful therapy. A barrier to developing telepsychiatry is the need for more guidelines for dealing with medical errors. Conclusions: Telemedicine can help in accessing specialized care regardless of location. Telepsychiatry provides a safe and anonymous environment for patients reluctant to receive inpatient therapy. The effectiveness of online therapy is primarily debated. Telepsychiatry should be limited to follow-up consultations and well-known patients - it is a form of complementing the diagnosis and treatment process. The authors point to the need for developing specific guidelines for conducting teletherapy with particular attention to the problem of suicide. Keywords: telepsychiatry, teletherapy, digital psychiatry.

Introduction: Irritable bowel syndrome (IBS) is one of the most common diseases affecting people around the world. It is characterized by irregular bowel movements and abdominal pain. IBS significantly reduces the quality of life of patients. Despite such a frequent occurrence of this disease, its correct diagnosis and treatment still causes many problems for primary care physicians. Aim of the study: The aim of the study is to present the current state of knowledge on the pathophysiology, diagnostics and drugs used in irritable bowel syndrome. Description of the state of knowledge: Many factors may play a role in the pathogenesis of IBS. The most common are: genetic factors, intestinal motility disorders, visceral hypersensitivity, mental disorders, especially disorders of the brain-gut axis regulation, past intestinal infections, intestinal microbiota disorders and food intolerances. The Rome IV criteria are currently used in the diagnosis of IBS. Treatment of irritable bowel syndrome includes lifestyle modification and dietary management, pharmacotherapy and psychotherapy. Summary: Irritable bowel syndrome is a chronic disease, symptoms often recur and complete recovery is not possible.

Introduction: The assessment and treatment of pain in the pediatric population is a huge challenge for doctors and medical staff dealing with this group of patients. It is also one of the most important elements of pediatric care practice. There are many factors that contribute to the difficulty of assessing and managing pain in children, but the most important seems to be the lack of unified standards of care. In pain therapy, both pharmacotherapy and behavioral methods and psychological care are used. Purpose of the work: The aim of this work is to systematize the current state of knowledge in the field of pain therapy in the pediatric population, focusing particular attention on pharmacotherapy Materials and Evidence: We reviewed the literature available in the PubMed database using the following keywords: pediatric; pain therapy; analgesia Summary: Pain therapy in the pediatric population, despite the fact that it is often underestimated and insufficiently managed, is crucial both in terms of avoiding health complications and in the overall therapeutic process. Despite the presence of many drugs for pain therapy on the market, many of them are not approved for use in this group of patients. Knowledge of their mechanisms of action and predicting the impact on metabolism in a pediatric patient compared to an adult is crucial for the management of both acute and chronic pain syndromes. Despite the current knowledge, there is still a need for broader research on the possibility of the drugs used, their impact on the therapy process and side effects in the youngest patients.