L-2-hydroxyglutaric aciduria: A case report

Introduction. L-2-Hydroxyglutaric aciduria (L-2-HGA) is an autosomal recessive neurometabolic disease with a slowly progressive course and characterized by increased levels of hydroxyglutaric acid in urine, cerebrospinal fluid and plasma. In this condition clinical features mainly consist of mental deterioration, ataxia and motor deficits. Case Outline. The patient is a 16-year-old girl, the first and only child of healthy, non-consanguineous parents of Serbian origin. At the age of 4 years her walk became unsteady and ataxic. Other signs of cerebellar involvement were soon observed. Head circumference was above two standard deviations (55 cm). Mild mental retardation was revealed by formal intelligence testing (IQ 60). MR examination of the brain showed confluent subcortical white matter lesions spread centripetally, and atrophy of the cerebellar vermis with involvement of dentate nuclei, without deep white matter abnormalities. Laboratory investigation revealed increased amounts and a very large peak of HGA in urine and plasma. Enantiomeric analysis confirmed the L-configuration (>90%) establishing the diagnosis of L-2-HGA. The first epileptic seizure, partial with secondary generalization, occurred at age of 8 years. Favorable seizure control was achieved. A slow progression of neurological impairment was noted. Therapeutic trials with oral coenzyme Q10 and with oral riboflavin showed no biochemical and clinical effects. Recently, the diagnosis was proven by the presence of a mutation in the L-2-HGA gene. Conclusion. To our knowledge, this is the first report of L-2-HGA in Serbia. L-2-HGA must be considered in the differential diagnosis based on specific findings in cranial MRI

ČUDO CRNE NOGE: ISTOČNJAČKO ZANEMARIVANJE ZAPADANJAČKIH PRINOSA HAGIOGRAFIJI SVETIH KUZME I DAMJANA

The Christian miracle tales strongly support the identification of Sts. Cosmas and Damian as doctors. The most famous of the saints’ posthumous miracles, is that of the Black Leg. The main source of this story is the Golden Legend by Jacobus da Varagine, collection of fanciful hagiographies compiled in the 13th century. Saints Cosmas and Damian miraculously transplanted the black leg of the Ethiopian man onto the white body of the verger with “cancerous” leg. Saints appeared to the patient in a dream, amputated his diseased leg and replaced it with the leg of a recently died man. This dramatic cure was attractive for many western artists. The iconography of this miracle was depicted for the first time in a Florentine panel of ca.1370. The color of the leg later attracted special attention. Since the 1990’s the Miracle of the Black Leg, presented in a (neo) Byzantine style, appeared in Greece. The miracle of Holy Unmercenaries has no proper historical foundation in the Books of the lives of the Saints in the Orthodox Churches. Action focused on replacement of the affected leg with one from cadaveric donor was unknown to the eastern Christianity. Exploration of available orthodox hagiographical sources related to the healing powers of Sts. Cosmas and Damian showed remarkable neglect of that miracle. Some contemporary Greek authors find appropriate to disregard it.Pripovijesti o kršćanskim čudima snažno podržavaju liječnički identitet svetih Kuzme i Damjana. Čudo Crne noge je njihovo najznamenitije posmrtno čudo. Zlatna Legenda, koju je napisao Jacopo da Voragine, glavni je izvor ove pripovijesti. Ova zbirka čudesnih hagiografija prikupljena je u XIII stoljeću. Sveti Kuzma i Damjan čudotvorno transplantiraju crnu nogu Etiopljanina, crkvenjaku bijelog tijela, čija je noga zahvaćena tumorom. Svetitelji su se pojavili u snu bolesnika s oboljelom nogom, amputirali je i zamijenili nogom nedavno preminule osobe. Ovo dramatično izlječenje privuklo je mnoge zapadne umjetnike. Ikonografija Čuda Crne noge po prvi puta je predstavljena u Firenzi oko 1370. godine. Boja noge je kasnije privukla posebnu pozornost. Počevši od 1990. godine u Grčkoj su se pojavile ilustracije Čuda Crne noge u (novo) Bizantskom stilu. Ovo čudo Svetih Bezsrebrenika nije povijesno zasnovano na Knjigama života Svetih u pravoslavnim crkvama. Djelovanje svetih liječnika usmjereno na zamjenu oboljele noge onom uzetom od mrtvog donora, bilo je nepoznato istočnom Kršćanstvu. Procjena izlječivih, čudotvornih moći Svetih Kuzme i Damjana u dostupnim pravoslavnim hagiografskim izvorima pokazala je izrazito zanemarivanje čuda Crne noge. Neki suvremeni Grčki autori smatraju da ono ne zavrjeđuje pozornost

Differential expression of KCNQ1 K+ channel in tubular cells of frog kidney

The aim of this study was to evaluate KCNQ1 K+ channel expression in the frog kidney of Rana esculenta. KCNQ1 K+ channel, also known as KvLQT1, is the pore forming α-subunit of the IKs K+ channel, a delayed rectifier voltage-gated K+ channel, which has an important role in water and salt transport in the kidney and gastrointestinal tract. The expression of KCNQ1 K+ channel along tubular epithelium differs from species to species. In the present study the expression of KCNQ1 K+ channel in the frog kidney has been demonstrated by immunohistochemistry. The presence of KCNQ1 K+ channel was demonstrated in the epithelial cells of distal convoluted tubule and collecting duct. However, the pattern of expression of KCNQ1 K+ channel differs between distal convoluted tubules and collecting duct. All epithelial cells of distal convoluted tubules revealed basolateral expression of KCNQ1 K+ channel. On the contrary, only the single cells of collecting duct, probably intercalated cells, showed diffuse cell surface staining with antibodies against KCNQ1 K+ channel. These findings suggest that KCNQ1 K+ channel has cell-specific roles in renal potassium ion transport

Synthesis of PLGA /nano-ZnO composite particles for biomedical applications

Copolymer poly (DL-lactide-co-glycolide) (PLGA), due of its biodegradable and biocompatible nature, is widely used in various medical applications; controlled release of delivering drugs, carriers in the tissue engineering, etc. On the other hand, zinc oxide (ZnO) is extensively used in medicine and pharmacy for personal care products, as well as in biomedical materials like dental composites, as a material for treatment of a variety of skin irritations, to enhance the antibacterial activity of different medicaments, etc. In this research we have dealt with a procedure to prepare particles of poly (lactide-co-glycolide) and nano zinc oxide (PLGA/nano-ZnO). Nano-ZnO has been synthesized using a microwave synthesis method and additionally immobilized within PLGA by physicochemical solvent/non-solvent method. Firstly, ZnO has been dispersed in acetone and then additionally added dropwise in the PLGA/ethyl acetate (PLGA/nano-ZnO(EtAc) or PLGA/acetone (PLGA/nano-ZnO(Ac)) solutions, respectively. The as-prepared dispersions were dried in air atmosphere for 24 h. The characterization of the prepared samples was performed using X-ray powder diffraction (XRPD) method for the structure properties, field emission scanning electron microscopy (FE SEM) for the investigation of particles morphology, as well as Malvern’s Mastersizer instrument for particle size distribution. DTA-TG measurements were performed in order to investigate the samples thermal stability and mass loss percentage. The antimicrobial behavior of the synthesized PLGA/nano-ZnO particles was tested against gram-negative and gram-positive bacteria cultures and also against Candida Albicans, diploid fungus

Ru layers electrodeposited onto highly stable Ti2AlC substrates as cathodes for hydrogen evolution in sulfuric acid solutions

In this work, the hydrogen evolution reaction (HER) was studied on Ru coated Ti2AlC electrodes in 1.0 mol dm(-3) H2SO4 at 25 degrees C. Ti2AlC was found to be a highly stable substrate in sulfuric acid solutions due to the formation of a passivating oxide layer on the surface, which was confirmed by the X-ray photoelectron spectroscopy (XPS) analysis of as-prepared and anodically treated Ti2AlC samples. Ru films were electrodeposited onto Ti2AlC substrates by cycling the potential of Ti2AlC in the solution containing 0.01 mol dm(-3) RuCl3 + 0.1 mol dm(-3) H2SO4 between -0.5 V and 0.4 V vs. a saturated calomel electrode (SCE) at the sweep rate of 20 mV s(-1). Four Ru/Ti2AlC samples were prepared, obtained at 5, 10, 15 and 20 cycles of Ru electrodeposition. Characterization of samples was performed by scanning electron microscopy (SEM) and cyclic voltammetry (CV), while the thickness of the electrodeposited Ru layers was determined by atomic force microscopy (AFM). It was found that the most compact sample with the thickness of about 0.42 mu m was obtained after 5 cycles. Electrochemical impedance spectroscopy (EIS) and steady-state polarization measurements showed that all Ru/Ti2AlC electrodes were exceptionally active for the HER. A Tafel slope of about -60 mV dec(-1) was observed on all polarization curves in the range of high cathodic current densities. Based on formal kinetics analysis, an appropriate mechanism for the HER on Ru/Ti2AlC was suggested.This is the peer-reviewed version of the article: Jovic, B. M., Jović, V. D., Lačnjevac, U., Stevanović, S., Kovac, J., Radovic, M.,& Krstajić, N. V. (2016). Ru layers electrodeposited onto highly stable Ti2AlC substrates as cathodes for hydrogen evolution in sulfuric acid solutions. Journal of Electroanalytical Chemistry, Elsevier, 766, 78-86. [https://doi.org/10.1016/j.jelechem.2016.01.038]The published version: [https://cer.ihtm.bg.ac.rs/handle/123456789/2012

Supplementary data for the article: Ilić, I.; Milutinović-Nikolić, A.; Mojović, Z.; Vuković, Z.; Vulić, P.; Gržetić, I.; Banković, P.; Jović-Jovičić, N. Oxidative Degradation of Aromatic N-Compounds Using Cobalt Containing Montmorillonite-Based Catalysts. Applied Clay Science 2020, 193, 105668. https://doi.org/10.1016/j.clay.2020.105668

Supplementary material for: [https://doi.org/10.1016/j.clay.2020.105668]Related to published version: [http://cherry.chem.bg.ac.rs/handle/123456789/4045

Bioimaging of liver cancer cells incubated with partially reduced graphene oxide

Functional materials based on graphene oxide (GO) and reduced graphene oxide (rGO) have a high potential for application in the fields of biophysics, material science, and biomedical engineering [1]. It is due to their tunable physical properties, high surface area, remarkable photoluminescence, as well as their controllable chemical functionalization [2]. Beyond their applications in nanomedicine for drug/gene delivery, phototherapy and bioimaging, they have shown significant interaction and adhesive properties with proteins, mammalian cells and microorganisms, which makes them potential candidates for multifunctional biological applications. In this lecture, we will present a study of the interaction of partially reduced graphene oxide (prGO) with Huh7.5.1 liver cancer cells. The study was conducted by means of synchrotron excitation DUV fluorescence bioimaging (performed on DISCO beamline of synchrotron SOLEIL) [3]. The prGO sample was obtained by the reduction (to a certain extent) of the initially prepared GO nanosheets. The fluorescence of the GO nanosheets increases with time of the reduction due to a change in the ratio of the sp2 and sp3 carbon sites, and the prGO sample was extracted from the dispersion when the intensity of the fluorescence reached its maximum. After that, Huh7.5.1 cells were incubated with GO, prGO and rGO nanosheets and used in bioimaging studies. The presence of graphene materials influenced the fluorescence properties of the cells, and by analyzing fluorescence photobleaching dynamics, we were able to localize graphene nanosheets inside the liver cancer cells.VII International School and Conference on Photonics : PHOTONICA2019 : Abstracts of Tutorial, Keynote, Invited Lectures, Progress Reports and Contributed Papers; August 26-30; Belgrad

Fenton-like oxidation of an azo dye using mesoporous Fe/TiO2 catalysts prepared by a microwave-assisted hydrothermal process

Fe-doped TiO2 photocatalysts with different contents of Fe (0.5, 1.6, 3.4 and 6.4 %) were synthesized by a microwave-hydrothermal method and characterized by X-ray diffraction analysis, N-2 physisorption at 77 K and UV-Vis spectrometry. The characterization showed that the Fe ions were highly dispersed in the TiO2 lattice. It was found that all the synthesized catalysts had a mesoporous structure and that Fe-doping increased the BET surface area. The UV-Vis study showed that the absorption spectra were shifted to longer wavelengths (red shift) with increasing dopant concentration. The photocatalytic activity of the samples was evaluated by the decolorization of the textile dye Reactive Blue 52 (RB) in aqueous solutions under sun-like radiation in the presence of H2O2 (a heterogeneous photo-Fenton process). The photocatalyst with 3.4 % Fe was found to be the most efficient in the presence of H2O2. The effect of the initial pH of the dye solution was assessed and dissolution of iron ions was studied as a function of pH value. It was concluded that decolorization was more favorable in acidic pH, and that at pH values gt 4, the release of Fe ions into the solution was negligible. Photocatalytic degradation of 4-chlorophenol (4-CP) was investigated under the optimal conditions and it was shown that the catalyst was capable of degrading colorless pollutants

SNX17 protects integrins from degradation by sorting between lysosomal and recycling pathways.

The FERM-like domain-containing sorting nexins of the SNX17/SNX27/SNX31 family have been proposed to mediate retrieval of transmembrane proteins from the lysosomal pathway. In this paper, we describe a stable isotope labeling with amino acids in culture-based quantitative proteomic approach that allows an unbiased, global identification of transmembrane cargoes that are rescued from lysosomal degradation by SNX17. This screen revealed that several integrins required SNX17 for their stability, as depletion of SNX17 led to a loss of β1 and β5 integrins and associated a subunits from HeLa cells as a result of increased lysosomal degradation. SNX17 bound to the membrane distal NPXY motif in β integrin cytoplasmic tails, thereby preventing lysosomal degradation of β integrins and their associated a subunits. Furthermore, SNX17-dependent retrieval of integrins did not depend on the retromer complex. Consistent with an effect on integrin recycling, depletion of SNX17 also caused alterations in cell migration. Our data provide mechanistic insight into the retrieval of internalized integrins from the lysosomal degradation pathway, a prerequisite for subsequent recycling of these matrix receptors