Ultraviolet radiation and melanogenesis

Light radiation is a part of the electromagnetic radiation, and it consists of the ultraviolet (UV) radiation, visible light, and infrared radiation. UV radiation energy is absorbed in the form of photons in biomolecules (chromophores) and induces various cellular reactions, out of which photochemical and photosensitizing are the most significant. In contact with the skin UV radiation incites protection mechanisms: the most important are stratum corneum thickening and melanin synthesis (melanogenesis). Basic role of melanin is absorption and scattering of UV rays and neutralization of free radicals. In this review physical characteristics of UV radiation, its biological effects, and relation to melanogenesis and carcinogenesis are discussed

Bin weather data for City of Niš

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Molecular genetic strategy for diagnosis of congenital adrenal hyperplasia in Serbia

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common endocrine diseases, yet genetic diagnosis is among the most complicated of all monogenic disorders. It has an overall incidence of 1: 10000-1: 20000, it is inherited in autosomal recessive pattern and caused by mutations affecting CYP21A2 gene. Based on the phenotypic expression, this disease is categorized into severe, classical form revealed at birth and mild, non-classical form. Although diagnosis could be established based on biochemical tests and distinctive clinical features, molecular genetic testing is crucial for diagnosis confirmation, detection of carriers and asymptomatic patients, disease prognosis, as well as for providing proper genetic counselling and prenatal diagnosis. Based on CYP21A2 mutational spectrum and frequencies in Serbia, in this paper we propose an optimal molecular genetic diagnostic algorithm for CAH and discuss genetic mechanisms underlying the disease. The complete diagnostic procedure combines multiplex minisequencing technique (SNaPshot PCR) as a method for rapid detection of common point mutations, direct sequencing of whole CYP21A2 gene and PCR with sequence specific primers (PCR-SSP) for large gene rearrangements detection (CYP21A1P/CYP21A2 chimeras). While SNaPshot PCR assay analyses ten common mutations (c. 290-13A/C gt G, p.P30L, p.R356W, p.G110fs, p.V281L, p.Q318X, p.L307fs, p.I172N, Cluster p.[I236N;V237E;M239K] and p.P453S) which account for over 80% of all CYP21A2 mutations in Serbian population, direct sequencing of CYP21A2 gene is needed to identify potential rare or novel mutations present in Serbian population with frequency of 1.8%. Additionally, large gene rearrangements which are present with frequency of 16.7% make PCR-SSP analysis an unavoidable part of molecular characterization of CAH in Serbia. Described molecular genetic strategy is intended to facilitate correct diagnosis assessment in CAH affected individuals and their families in Serbia but it will also contribute to molecular genetic testing of CAH patients across Europe

Crosstalk between Glycogen-Selective Autophagy, Autophagy and Apoptosis as a Road towards Modifier Gene Discovery and New Therapeutic Strategies for Glycogen Storage Diseases

Glycogen storage diseases (GSDs) are rare metabolic monogenic disorders characterized by an excessive accumulation of glycogen in the cell. However, monogenic disorders are not simple regarding genotype-phenotype correlation. Genes outside the major disease-causing locus could have modulatory effect on GSDs, and thus explain the genotype-phenotype inconsistencies observed in these patients. Nowadays, when the sequencing of all clinically relevant genes, whole human exomes, and even whole human genomes is fast, easily available and affordable, we have a scientific obligation to holistically analyze data and draw smarter connections between genotype and phenotype. Recently, the importance of glycogen-selective autophagy for the pathophysiology of disorders of glycogen metabolism have been described. Therefore, in this manuscript, we review the potential role of genes involved in glycogen-selective autophagy as modifiers of GSDs. Given the small number of genes associated with glycogen-selective autophagy, we also include genes, transcription factors, and non-coding RNAs involved in autophagy. A cross-link with apoptosis is addressed. All these genes could be analyzed in GSD patients with unusual discrepancies between genotype and phenotype in order to discover genetic variants potentially modifying their phenotype. The discovery of modifier genes related to glycogen-selective autophagy and autophagy will start a new chapter in understanding of GSDs and enable the usage of autophagy-inducing drugs for the treatment of this group of rare-disease patients

Nasleđe srpske hemije u Galeriji nauke i tehnike SANU

У септембру 2013. године навршило се 160 година од тренутка када је 1853. године кнез Александар Карађорђевић одобрио ново устројство београдског Лицеја, једине високошколске установе у ондашњој Србији. Документом „Устројеније Књажеско-Србског Лицеја“ предвиђено је увођење нових предмета „Химија“ и „Технологија“ у наставни план Лицеја. За потребе ових предмета Устројенијем су предвиђени „Химическа Лабораторија“ и „Технологически кабинет“. На место професора за ове предмете изабран је 26-годишњи Михаило Рашковић (1827–1872). Не занемарујући значај дела Павла Илића (1807–1871), државног апотекара и касније државног хемичара, чијим радом је заправо започела хемијска струка код нас, са оснивањем лицејске хемијске лабораторије дошао је нови период развоја хемијске струке и наставе хемије у Србији. Захваљујући прегалаштву Михаила Рашковића у обезбеђивању добрих услова за лабораторијски рад, постављен је темељ и за почетак хемијске науке код нас. То ће се догодити почетком 70-их година 19. века, пре свега у делу Симе Лозанића (1847–1935). Са намером да се обележи 160. годишњица отварања хемијске лабораторије на Лицеју, приређена је изложба Лабораторија великана–наслеђе српске хемије у Галерији науке и технике Српске академије наука и уметности. Овај рад представља кратак извештај о изложби

Povećanje nutritivnog kvaliteta soje pomoću nestandardnih folijarnih đubriva

Deficiencies of mineral elements in human nutrition could be surpassed by crop fortification. One of the prevalent measures of fortification is foliar fertilization. The aim of this study was to determine the content and availability of the mineral nutrients Mg, Fe and Zn, together with phytate, as an anti-nutritive factor, and β-carotene as a promoter of mineral nutrient availability in grain of two soybean cultivars (Nena and Laura) treated with different non-standard foliar fertilizers (mainly based on plant extracts). Generally, a negative correlation between Fe and phytate indicated that factors which decrease phytate and increase β-carotene could be primarily responsible for Fe utilization by humans and animals. Zlatno inje (based on manure) had the highest impact on increasing the grain yield and decreasing the ratios between phytate and mineral elements in Nena grain, while for Laura, it was generally Zircon (based on an extract of Echinacea purpurea L), increasing also availability of mineral elements

Supplementary material for the article: Rančić, M. P.; Stojiljković, I.; Milošević, M.; Prlainović, N.; Jovanović, M.; Milčić, M. K.; Marinković, A. D. Solvent and Substituent Effect on Intramolecular Charge Transfer in 5-Arylidene-3-Substituted-2,4-Thiazolidinediones: Experimental and Theoretical Study, 2016. https://doi.org/10.1016/j.arabjc.2016.12.013

Supplementary material for: [https://doi.org/10.1016/j.arabjc.2016.12.013]Related to published version: [http://cherry.chem.bg.ac.rs/handle/123456789/305

Genomics as a basis for precision medicine

Summary. Precision medicine, also known as genome-based medicine and personalized medicine, uses knowledge of the molecular basis of a disease in order to individualize treatment for each patient. The development of novel, powerful, high-throughput technologies has enabled better insight into the genomic, epigenomic, transcriptomic and proteomic landscape of many diseases, resulting in the application of personalized medicine approaches in healthcare. Research in the field of biomedicine in Serbia has followed the modern trends and has made a great contribution to the implementation of genomics in Serbian clinical practice. This is a review of the state of the art of scientific achievements and their application, which have paved the way for personalized medicine in Serbia

Mutations in the PAH gene: A Tool for population genetics study

Fenilketonurija je urođena metabolička bolest prouzrokovana mutacijama u genu za fenilalanin hidroksilazu (PAH). U srpskoj populaciji je identifikovano 19 različitih PAH mutacija. PAH mutacije korišćene su kao molekularni markeri za populaciono-genetičko istraživanje. Niska vrednost homozigotnosti PAH gena (0,10) ukazuje na heterogenost fenilketonurije u Srbiji i odražava brojne migracije u regionu jugoistočne Evrope. U skladu sa tim, osmišljena je strategija molekularne dijagnostike fenilketonurije za Srbiju. U cilju rasvetljavanja porekla najčešće mutacije koja uzrokuje fenilketonuriju u Srbiji, L48S, urađena je haplotipska analiza PCR-RFLP metodom. Naši rezultati sugerišu da je L48S mutacija poreklom iz više populacija sa različitim genetičkim karakteristikama. .Phenylketonuria (PKU), an inborn error of metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene. In the Serbian population, 19 different PAH mutations have been identified. We used PAH mutations as molecular markers for population genetics study. The low homozygosity value of the PAH gene (0.10) indicates that PKU in Serbia is heterogeneous, reflecting numerous migrations throughout Southeast Europe. The strategy for molecular diagnostics of PKU was designed accordingly. To elucidate the origin of the most common (L48S) PKU mutation in Serbia, we performed haplotype analysis by PCR-RFLP. Our results suggest that the L48S mutation was imported into Serbia from populations with different genetic backgrounds

Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants

Glycogen storage disease (GSD) type I is inborn metabolic disease characterized by accumulation of glycogen in multiple organs. We analyzed 38 patients with clinical suspicion of GSD I using Sanger and next-generation sequencing (NGS). We identified 28 GSD Ib and 5 GSD Ia patients. In 5 patients, GSD III, VI, IX, cholesteryl-ester storage disease and Shwachman-Diamond syndrome diagnoses were set using NGS. Incidences for GSD Ia and GSD Ib were estimated at 1:172746 and 1:60461 live-births, respectively. Two variants were identified in G6PC gene: c.247C gt T (p.Arg83Cys) and c.518T gt C (p.Leu173Pro). In SLC37A4 gene, 6 variants were detected. Three previously reported variants c.81T gt A (p.Asn27Lys), c.162C gt A (p.Ser54Arg) and c.1042_1043delCT (p.Leu348Valfs*53) accounted for 87% of all analyzed alleles. Computational, transcription studies and/or clinical presentation in patients confirmed pathogenic effect of 3 novel variants: c.248G gt A (p.Gly83Glu), c.404G gt A (p.Gly135Asp) and c.785G gt A (p.Ser263Glyfs*33 or p.Gly262Asp). In the cohort, hepatomegaly, hypoglycemia and failure to thrive were the most frequent presenting signs of GSD Ia, while hepatomegaly and recurrent bacterial infections were clinical hallmarks of GSD Ib. All GSD Ib patients developed neutropenia while 20.6% developed inflammatory bowel disease. Our study revealed the highest worldwide incidence of GSD Ib. Furthermore, description of 3 novel variants will facilitate medical genetic practice.This is the peer reviewed version of the paper: Skakic, A., Djordjevic, M., Sarajlija, A., Klaassen, K., Tosic, N., Kecman, B., Ugrin, M., Spasovski, V., Pavlovic, S., & Stojiljkovic, M. (2018). Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants. Clinical Genetics, 93(2), 350–355. [https://doi.org/10.1111/cge.13093