Novel Molecular Therapies and Genetic Landscape in Selected Rare Diseases with Hematologic Manifestations: A Review of the Literature.

Rare diseases affect less than 1 in 2000 people and are characterized by a serious, chronic, and progressive course. Among the described diseases, a mutation in a single gene caused mastocytosis, thrombotic thrombocytopenic purpura, Gaucher disease, and paroxysmal nocturnal hemoglobinuria (, , , and genes, respectively). In Castleman disease, improper , , , , and genes cause the appearance of symptoms.

The Role of Dysregulated miRNAs in the Pathogenesis, Diagnosis and Treatment of Age-Related Macular Degeneration.

Age-related macular degeneration (AMD) is an eye disease causing damage to the macular region of the retina where most of the photoreceptors responsible for central visual acuity are located. MicroRNAs (miRNAs) are small single-stranded non-coding RNA molecules that negatively regulate genes by silent post-transcriptional gene expressions. Previous studies have shown that changes in specific miRNAs are involved in the pathogenesis of eye diseases, including AMD.

Molecular methods for increasing the effectiveness of ovarian cancer treatment: a systematic review.

The aim of the current study is to analyze and summarize the latest research on improving therapy in ovarian cancer. Data analysis was based on a review of publications from 2011 to 2021 in the PubMed database with use of the search terms including 'EGFR ovarian cancer', 'folate receptor inhibitors ovarian cancer', 'VEGF ovarian cancer', 'PDGF ovarian cancer' and 'CTLA-4 ovarian cancer'. 6643 articles were found; 238 clinical trials and randomized control trials were analyzed; 122 studies were rejected due to inconsistency with the topic of the work.

Hypodiploidy in a pediatric patient of T-cell acute lymphoblastic leukemia: a case report.

Background: T-cell acute lymphoblastic leukemia is a subtype of acute lymphoblastic leukemia, one of the most common childhood neoplasms. Hypodiploidy is a chromosome abnormality with fewer than 45 chromosomes and is associated with unsatisfactory clinical outcomes in acute lymphoblastic leukemia.

Case Presentation: We report clinical and genetic findings of a 14-year-old male with T-cell acute lymphoblastic leukemia with low-hypodiploidy.

Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly.

Background: 16p11.2 microdeletion is a known chromosomal anomaly associated mainly with neurocognitive developmental delay, predisposition to obesity, and variable dysmorphism. Although this deletion is relatively rare among the general population, it is one of the serious known genetic aetiologies of obesity and autism spectrum disorder.