Mucopolysaccharidoses (MPSs) are known as rare genetic diseases which are caused by mutation in the enzyme heparin sulfate, which normally leads to degradation and accumulation of glycosaminoglycans in the cells. There are 11 types of MPSs, whereby neuropathy may occur in seven of them (MPS I, II, IIIA, IIIB, IIIC, IIID and VII). Accumulation of degraded heparin sulfate in lysosomes causes cellular dysfunction and malfunction of several organs. However, the exact molecular mechanism how protein degradation and storage leads to cellular dysfunction is not understood, yet. Nonetheless, several genetic and biochemical methods for diagnosis of MPSs are available nowadays. Here we provide an overview on known molecular basis of MPS in general, including enzyme defects and symptoms of MPS; however, the main focus is on MPS type III together with potential and perspective therapy-options.

The human ribosomes are the cellular machines that participate in protein synthesis, which is deeply affected during cancer transformation by different oncoproteins and is shown to provide cancer cell proliferation and therefore biomass. Cancer diseases are associated with an increase in ribosome biogenesis and mutation of ribosomal proteins. The ribosome represents an attractive anti-cancer therapy target and several strategies are used to identify specific drugs. Here we review the role of different drugs that may decrease ribosome biogenesis and cancer cell proliferation.

Purpose Consanguinity increases the likelihood of the inheritance of homozygous pathogenic alleles which may predispose to rare autosomal recessive disorders. Here we discuss the role of consanguinity in informing inherited disease with a focus on rare diseases. Methods We reviewed the literature concerning the impact of consanguinity on human diseases and chose examples to illustrate the most important themes. Results Consanguinity rates vary hugely between different populations influencing the prevalence of rare autosomal recessive diseases. Some founder genetic variants leading to human disease are specific for a single country, or a specific ethnic or geographic group while others are shared more widely. Inherited diseases of known molecular genetic etiology are characterized by their genotype and phenotype but many exhibit marked heterogeneity which may be population dependent. Increased rates of consanguinity are associated with rare autosomal recessive inherited diseases and can lead to more than one human genetic disease in affected individuals leading to complex and overlapping phenotypes. Next-generation sequencing strategies allow new insights into these cases. In contrast, the impact of consanguinity on malignancies and common multifactorial diseases is less predictable and needs further exploration. Conclusions High rates of consanguinity remain prevalent in certain populations and lead to an increased burden of rare autosomal recessive inherited diseases. Strategies to reduce consanguinity are needed to reduce these disease consequences and will require global improvements in education, social, and economic conditions.

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Introduction: Many authors in their research have suggested an association between vitamin D and asthma, but the results from these publications are sometimes confusing. Aim: Our aim was to assess the relationship between serum vitamin D and lung function in patients previously diagnosed with asthma. Materials and methods: The present study started in September 2019 and was completed in May 2020. All patients were diagnosed at the University Clinical Center-Prishtina, Kosovo. Spirometry was performed on children of ages 6-16 years old with a spirometer according to the recommendations of the American Thoracic Society. Results: Of the 57 children who visited the University Clinical Center of Kosovo-Department of Pediatrics, 29 were diagnosed with asthma. The Spearman coefficient correlation showed statistical significance between vitamin D and body weight, and vitamin D and FEF75% at level 0.05. Other parameters did not show statistical significance with vitamin D, but such statistical significance was found in other parameters between asthma and healthy groups. Conclusions: Our data suggested that serum vitamin D level was insignificant for FVC%, FEV1%, Tiffeneau Index values, and PEF. Statistical significance was observed between vitamin D and body weight; vitamin D and FEF75% (p=0.05).