Gene therapy is defined as the administration of genetic material to modify, manipulate gene expression or alter the properties of living cells for therapeutic purposes. Recent advances and improvements in this field have led to many breakthroughs in the treatment of various diseases. As a result, there has been an increasing interest in the use of these therapies to treat motor neuron diseases (MNDs), for which many potential molecular targets have been discovered. MNDs are neurodegenerative disorders that, in their most severe forms, can lead to respiratory failure and death, for instance, spinal muscular atrophy (SMA) or amyotrophic lateral sclerosis (ALS). Despite the fact that SMA has been known for many years, it is still one of the most common genetic diseases causing infant mortality. The introduction of drugs based on ASOs—nusinersen; small molecules—risdiplam; and replacement therapy (GRT)—Zolgensma has shown a significant improvement in both event-free survival and the quality of life of patients after using these therapies in the available trial results. Although there is still no drug that would effectively alleviate the course of the disease in ALS, the experience gained from SMA gene therapy gives hope for a positive outcome of the efforts to produce an effective and safe drug. The aim of this review is to present current progress and prospects for the use of gene therapy in the treatment of both SMA and ALS.

Recent years have brought significant progress in the treatment of B-cell acute lymphoblastic leukemia (ALL). This was influenced by both the improved schemes of conventionally used therapy, as well as the development of new forms of treatment. As a consequence, 5-year survival rates have increased and now exceed 90% in pediatric patients. For this reason, it would seem that everything has already been explored in the context of ALL. However, delving into its pathogenesis at the molecular level shows that there are many variations that still need to be analyzed in more detail. One of them is aneuploidy, which is among the most common genetic changes in B-cell ALL. It includes both hyperdiploidy and hypodiploidy. Knowledge of the genetic background is important already at the time of diagnosis, because the first of these forms of aneuploidy is characterized by a good prognosis, in contrast to the second, which is in favor of an unfavorable course. In our work, we will focus on summarizing the current state of knowledge on aneuploidy, along with an indication of all the consequences that may be correlated with it in the context of the treatment of patients with B-cell ALL.

Introduction and purpose: Muscle weakness in newborns, infants and young children can be caused by disorders of the neuromuscular junction (NMJ). Congenital myasthenic syndromes (CMS) are a group of rare genetic diseases whose symptoms resemble the clinical picture of autoimmune myasthenia gravis. There are many mutations that can disrupt the neuromuscular transmission leading to pathology. The diagnosis of CMS is based on genetic testing. The aim of this study is to draw clinicians' attention to the symptoms and present current forms of CMS diagnosis and management. State of knowledge: An increasing number of genetic changes are associated with CMS pathology. They are divided, depending on the location in the NMJ of the encoded protein, into presynaptic, synaptic and postsynaptic. The most common disorder is the mutation of CHRNE, which is responsible for the expression of one of the subunits in the structure of the acetylcholine receptor. Regardless of the type of disease, the characteristic symptom is uncommon fatigue of skeletal muscles. It may present as ptosis of one or both eyelids or gait disturbance. The interview, laboratory tests and EMG are helpful in the diagnosis, but genetic tests play a key role. They can target specific mutations or cover the entire genome comprehensively. Currently used drugs alleviate the course of CMS by increasing the release of acetylcholine or increasing the concentration of acetylcholine in the synaptic cleft. Conclusion: Because of its rarity and variability, many CMS patients may be misdiagnosed. It is important to implement extensive genetic diagnostics and early implementation of treatment. There is a need for long-term studies of CMS cases and implementation of therapies targeted at specific mutations.

Introduction and purpose: Bartholin's glands are paired structures, playing a significant role in lubricating the vagina through the production of mucus. They are physiologically undetectable, but when their ducts are clogged, the accumulating secretion can lead to various pathologies. The most common are cysts and abscesses, the symptomatic conditions of which are the causes of nearly 2% of gynecological visits annually. Statistically, they most frequently occur in women of childbearing age, however, young age is not a rule. The aim of the study is to summarize the state of knowledge about Bartholin's gland cysts and abscesses, with an indication of the currently used therapies. State of knowledge: In some cases, the course of these pathologies can be asymptomatic, however, the rest of the patients may experience unpleasant symptoms and require treatment. During diagnostics, it is important to carefully collect an interview and conduct a physical examination, because in most cases on this basis it is possible to make an accurate diagnosis. However, in case of doubt, imaging tests can also be used. There may be times when patients with asymptomatic cysts may not require treatment. Nevertheless, choosing the right therapy is sometimes challenging for the clinician due to the potential risk of symptoms recurring. Conclusion: Although there are many different treatments available, the most commonly used appears to be marsupialization or incision and drainage with Word catheter placement. Additionally, an increasing number of articles devoted to the use of the CO2 laser can also be observed, but even it has its drawbacks. For this reason, there is still a need for further research into new methods of treatment that would ensure both good results and high comfort for the patients.

Introduction and purpose: Chimeric antigen receptor‐T (CAR‐T) cells have achieved inspiring outcomes in the treatment for lymphoid malignancies, especially diffuse large B-cell lymphoma (DLBCL) and acute lymphoblastic leukemia (ALL), providing alternative therapeutic options for patients who failed to respond to conventional treatments. CAR-T are based on the patient's T lymphocytes, which through genetic modification, gain new abilities to detect and fight cancer cells. Although the percentage of complete remissions after standard treatment of B-cell malignancies is quite high, methods that could have an even better result regarding patient survival by reducing the side effects of treatment are still being sought to improve the quality of patients' lives. CAR-T is a culmination of many years of research in the dynamically developing area of immunotherapy as a revolutionary therapy of hematological cancers treatments. State of knowledge: In order to explore the topic, analysis included research available in the PubMed database. The research focused on the possibility of using CAR-T cell therapy in selected hematological cancers. Conclusion: CAR-T is one of the most advanced and personalized methods of immunotherapy. Despite the side effects of this method, there is still scope for improvement. Our overview summarizes all the issues that have been overcome in designing this therapy, as well as highlighting all the challenges that still need to be addressed.

Dravet Syndrome is a severe, drug-resistant, and rare epileptiform disorder that is typically presented in the first year of life in an otherwise healthy child. It is characterized by prolonged seizures that are often resistant to current anti-epileptic drug regimens, which made them poorly controlled, and almost 50% of patients experience at least four tonic-clonic seizures per month. There are three new medicines: stiripentol, cannabidiol, and fenfluramine, with documented efficacy and safety as adjunctive therapies in pharmacoresistant Dravet syndrome treatment. This study aimed to assess the efficacy and safety of fenfluramine in the treatment of Dravet syndrome. Our study material consisted of publications, which were found in PubMed, Google Scholar, and Embase databases. In order to find the proper publications, the search has been conducted with the use of a combination of keywords like: “fenfluramine”, “Dravet syndrome”, “epilepsy treatment”, “Dravet syndrome pediatric patients”. The first step was to find proper publications from the last 10 years. The second step was to carry out an overview of the found publications. Results of mentioned studies proved that in Dravet syndrome, fenfluramine provided a significantly greater reduction in convulsive seizure frequency compared with placebo. No patient developed valvular heart disease or pulmonary arterial hypertension, the side effects that occurred during its use were mild and the drug was generally well-tolerated. The bioequivalence and tolerability of single oral doses of fenfluramine hydrochloride oral solution in the fed and fasted states support drug administration without regard to meals. Fenfluramine may represent a new important treatment option for Dravet syndrome.