This research work presents a comprehensive overview of four traits related to the head, with the aim of assessing the statistical phenotypic association among them. The traits examined in this study encompass earlobe type, tongue rugosity, cleft chin and tongue rolling. The primary objective was to investigate the potential associations between these traits and understand their interrelationships. The study focused on examining specific traits in a diverse group of 7431 unrelated individuals, where the genders were almost evenly distributed. To facilitate a comprehensive analysis, three distinct groups were created for each characteristic, comprising the total population, as well as male and female subsets. The selection of subjects was carefully done to ensure a fair representation across different geographical regions within Bosnia and Herzegovina, thereby accurately reflecting the nation's national and ethnic diversity. The association among these traits was assessed for statistical significance using the Chi-squared test, with Fisher's exact test used as a supplementary method to examine the connection between each pair of observed traits. Additionally, the Chi-squared test was applied to examine gender-based differences in the frequencies of the phenotypic characteristics of the head. Following traits were shown to have a statistically significant association: tongue rugosity - tongue rolling, tongue rugosity – earlobe type, cleft chin – earlobe type, cleft chin – tongue rolling and earlobe type – tongue rolling. Investigation into the variations in the frequencies of observed phenotypic traits of the head, with respect to gender, revealed statistically significant results for every trait examined.

Introduction: Acute lymphoblastic leukemia (ALL) is the most frequent pediatric leukemia; it can be defined according to chromosomic and genomic data. Cytogenetic analyses and determination of chromosomal numbers (such as hypo- or hyperdiploidy) and/or specific chromosomal rearrangements are basic for ALL classification and treatment. Even though cure rates of childhood ALL are at ~95%, pharmacogenetic aspects are of raising importance. Material and Methods: We have analyzed the literature for ALL subtypes, corresponding therapy options, and pharmacogenetic implications. Results: Data for ALL subtypes such as B-ALL, T-ALL, Ph-like ALL, DS-ALL, ETP-ALL, BCR-ABL1-like ALL are presented here. The gene polymorphism which lead to metabolizability of 6-MP are ITPA variants (94C>A) and IVS2+21A>C, in conjunction with TPMT (238G>C, TPMT*3B 460G>A and *3C 719A>G and NUDT15 (415C>T). For methotrexate metabolism gene polymorphisms are found for gene MTHFR as C677T and A1298C. Conclusion: In the last decade in many hospital laboratories, pharmacogenetic aspects gain more and more importance. Application of many molecular biology methods provided progress in treatment and diagnosis of ALL patients. Combination therapy is proposed as an alternative to single drug treatments.

Systemic lupus erythematosus (SLE) is a disease associated with an impaired autoimmune response; the immune system attacks erroneously own tissues, which leads to inflammation, tissue damage and complement activation. The latter plays a pivotal role in SLE pathology, as complement level is suited as histological marker for disease diagnoses and management. Besides, environmentally factors have been highlighted and their significant contribution for individual genetic predisposition has been pointed out. Here complement factors, their activity and their ability to modify DNA with histone proteins are reviewed; known gene mutations involved in SLE, and new therapeutic approaches suggested for SLE are discussed and summarized, as well.

Mucopolysaccharidosis type IIIB (MPS IIIB), also known as Sanfilippo syndrome type B, is a metabolic disease caused by mutations in both alleles of the NAGLU gene encoding for the enzyme α-N-acetylglucosaminidase. A malfunction of this enzyme causes  inability to degrade heparan sulfate, which leads to accumulation of glycosaminoglycans in the cells. MPS IIIB is associated with different symptoms such as neurodegeneration, extreme hyperactivity, sleeping problems, aggressive behavior, reduced fear, and cognitive  deterioration. The condition is by now not curable. Here we describe a patient with MPS IIIB diagnosed at the age of 5 presenting with communication problems, motor dysfunctions, and speech and sleeping problems.Standard biochemical tests for neurodegenerative disorders and DNA analyses including NAGLU mutation screening were performed. We also did some psychological tests assessing the patient's communication skills and behavior. The patient was heterozygote for two mutations in the gene NAGLU (Y140C and Ser169fs). Thus, he suffered from MPS IIIB due to two mutations in the disease-causing gene.The patient presented with clear signs and symptoms of MPS IIIB with at least one of the two mutations affecting the α-N-acetylglucosaminidase protein function severely. Here we report the combination of a well-known and previously unreported mutation in the NAGLU gene; this could be dependent on geographical origin of the patient, which needs to be clarified by molecular studies of more MPS IIIB patients from Southeast Europe.

We examined dermatoglyphics of children in three Albanian and one Roma population sample (collected from 641 individuals from the Albanian populations and 226 individuals from the Roma population of both sexes). We compared Albanian and Roma populations based on four finger (whorl, radial and ulnar loop, and arch) and thirteen palmar traits (pattern frequencies in the Thenar/I interdigital area, II, III, and IV interdigital area, Hypothenar and axial »t« triradius position). The differences between the populations were more evident for palmar traits. In our study the Albanian and the Roma populations showed the best separation when finger and palmar traits are separately analyzed. As expected, the Albanian and the Roma populations separated in statistical analyses of most traits; the main reason for this is the different origins of two ethnic groups. The observed difference also indicates a low level of admixture between the Albanians and the Roma despite them living beside one another for several centuries.

Systemic lupus erythematosus (SLE) is a disease associated with an impaired autoimmune response; the immune system attacks erroneously own tissues, which leads to inflammation, tissue damage and complement activation. The latter plays a pivotal role in SLE pathology, as complement level is suited as histological marker for disease diagnoses and management. Besides, environmentally factors have been highlighted and their significant contribution for individual genetic predisposition has been pointed out. Here complement factors, their activity and their ability to modify DNA with histone proteins are reviewed; known gene mutations involved in SLE, and new therapeutic approaches suggested for SLE are discussed and summarized, as well.

Introduction: The process of protein synthesis is a vital process for all kingdoms of life. The ribosome is a ribonucleoprotein complex that reads the genetic code, from messenger RNA (mRNA) to produce proteins and to tightly regulate and ensure cells growth. The fact that numerous diseases are caused by defect during the ribosome biogenesis is important to understand this pathway. Materials and methods: We have analyzed the literature for ribosome biogenesis and its links with different diseases which have been found. Results and discussion: We have discussed the key aspect of human ribosome biogenesis and its links to diseases. We have also proposed the potential of applying this knowledge to the development of a ribosomal stress-based cancer therapy. Conclusion: Major challenges in the future will be to determine factors which play a pivotal role during ribosome biogenesis. Therefore, more anti-cancer drugs and gene therapy for genetic diseases will be developed against ribosomal biogenesis in the coming years. Graphical abstract: