Vol. 30 No. 3 (2024): REVIEW OF MEDICAL PRACTICE
Dear Readers,
I place in your hands the third issue this year of the XXXII volume of the quarterly Review of Medical Practice. In the current issue we present you with several interesting publications, among them a study entitled The role of vaccination against the human papilloma virus in the prevention of cervical cancer. It discusses the role of vaccination against the human papilloma virus in preventing cervical cancer - a malignant tumor affecting several thousand Polish women annually. The disease is characterized by an insidious course and a very high mortality rate. Vaccination against the human papilloma virus, in addition to avoiding common risk factors and performing regular cytological examinations, is an important element of cervical cancer prevention.
Another published article is Identification of Two Novel Compound Heterozygous ALS2 Mutations in Polish Siblings with Infantile-onset Ascending Spastic Paralysis (IAHSP). The aim of this study was to identify the genetic basis of familial severe tetraparesis of unknown etiology in a 26-year-old female patient and her younger sister with symptoms of progressive spasticity. The study identified two previously undescribed pathogenic variants in the ALS 2 gene responsible for ascending early-onset spastic paraplegia (IAHSP), inherited autosomal recessively. The genotype-phenotype correlation analysis allowed us to differentiate the clinical picture of the sibling disease with two other clinical phenotypes associated with mutations in the ALS2 gene: juvenile amyotrophic lateral sclerosis (JALS/ALS2) and juvenile primary lateral sclerosis (JPLS). The paper also highlights the impact of family segregation analysis of selected variants in two other genes (SACS and MTRFR) associated with recessive forms of spastic paraplegia.
I also recommend to you the article Environmental accessibility as a condition for independent living and social participation of people with disabilities. The increasing number of people with disabilities worldwide makes it necessary to create an accessible living environment using the principles of universal design. Disability, according to the World Health Organization (WHO), is a complex and multidimensional condition, resulting from impairment of function, limitation of activity and participation of a person in daily life, occurring in interaction with environmental factors. This concept is included in the International Classification of Functioning, Disability and Health. Environmental factors, in the form of barriers or facilitators, can significantly reduce or minimize difficulties in daily functioning and activity and participation in society for people with disabilities. Assessing the living environment for accessibility and implementing the principles of universal design are priorities in building a common space of socio-economic life for all people.
Sincerely
Editor-in-Chief
Anna Wilmowska-Pietruszyńska, Ph.D., Prof. UŁa
