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.

It has been estimated that 80% of the pre-mRNA undergoes alternative splicing, which exponentially increases the flow of biological information in cellular processes and can be an attractive therapeutic target. It is a crucial mechanism to increase genetic diversity. Disturbed alternative splicing is observed in many disorders, including neuromuscular diseases and carcinomas. Spinal Muscular Atrophy (SMA) is an autosomal recessive neurodegenerative disease. Homozygous deletion in 5q13 (the region coding for the motor neuron survival gene (SMN1)) is responsible for 95% of SMA cases. The nearly identical SMN2 gene does not compensate for SMN loss caused by SMN1 gene mutation due to different splicing of exon 7. A pathologically low level of survival motor neuron protein (SMN) causes degeneration of the anterior horn cells in the spinal cord with associated destruction of α-motor cells and manifested by muscle weakness and loss. Understanding the regulation of the SMN2 pre-mRNA splicing process has allowed for innovative treatment and the introduction of new medicines for SMA. After describing the concept of splicing modulation, this review will cover the progress achieved in this field, by highlighting the breakthrough accomplished recently for the treatment of SMA using the mechanism of alternative splicing.

B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is a frequent type of childhood hematological malignancy. The disease is classified into several subtypes according to genetic abnormalities. MicroRNAs (miRNAs) are involved in pathological processes (e.g., proliferation, apoptosis, differentiation). A miRNA is a group of short non-coding RNAs with relevant regulatory effects on gene expression achieved by suppression of the translation or degradation of messenger RNA (mRNA). These molecules act as tumor suppressors and/or oncogenes in the pathogenesis of pediatric leukemias. The characteristic features of miRNAs are their stable form and the possibility of secretion to the circulatory system. The role of miRNA in BCP-ALL pathogenesis is still emerging, but several studies have suggested using miRNA expression profiles as biomarkers for diagnosis, prognosis, and response to therapy in leukemia. The dysregulation of some miRNAs involved in childhood acute lymphoid leukemia, such as miR-155, miR-200c, miR-100, miR-181a, miR125b, and miR146a is discussed, showing their possible employment as therapeutic targets. In the current review, the capabilities of miRNAs in non-invasive diagnostics and their prognostic potential as biomarkers are presented.

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.

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.