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Progressive familial intrahepatic cholestasis—farnesoid X receptor deficiency due to NR1H4 mutation:A case report

World Journal of Clinical Cases 2021年第15期9卷 3631-3636页

作者： Piotr Czubkowski Richard J Thompson Irena Jankowska A S Knisely Milton Finegold Pamela Parsons joanna Cielecka-Kuszyk Sandra Strautnieks joanna pawłowska Laura N Bull Department of Gastroenterology HepatologyNutritional Disorders and PediatricsThe Children’s Memorial Health InstituteWarsaw 04-730Poland Institute of Liver Studies King's College London HospitalLondon SE59RSUnited Kingdom Institut für Pathologie Medizinische Universität GrazGraz 8010Austria Department of Pathology and Immunology Baylor College of MedicineHoustonTX 77030United States Texas Children’s Hospital HoustonTX 77030United States Department of Pathology The Children’s Memorial Health InstituteWarsaw 04-730Poland Department of Medicine and Institute for Human Genetics UCSF Liver Center LaboratoryUniversity of California San FranciscoSan FranciscoCA 94143United States

BACKGROUND Functioning farnesoid X receptor(FXR;encoded by NR1H4)is key to normal bile acid *** mutations in NR1H4 are reported in a few children with intrahepatic *** describe a boy with progressive familial intrahepatic cholestasis and homozygous mutation in *** SUMMARY A boy had severe neonatal cholestasis with moderate hypercholanemia and persistently elevated *** medical treatment,coagulopathy was uncontrollable,prompting liver transplantation at age 8 mo with incidental *** patient experienced catch-up growth with good liver function and did not develop allograft ***,1 year after transplant,he died from an acute infection,considered secondary to immunosuppression and asplenia.A homozygous protein-truncating mutation,c.547C>T,p.(Arg183Ter),was subsequently identified in NR1H4,and both parents were shown to be heterozygous *** of FXR and of bile salt export pump expression was confirmed by immunostaining of explanted *** Severe cholestasis with persistently high alpha-fetoprotein and modest elevation of serum bile acid levels may suggest FXR *** patients with FXR deficiency may not develop allograft steatosis and may respond well to liver transplantation.

关键词： Neonatal cholestasis Progressive familial intrahepatic cholestasis Bile salt export pump Liver transplantation Alpha-fetoprotein Case report

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A-kinase anchoring protein-mediated compartmentalization of pro-survival signaling in the retina

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Neural Regeneration Research 2025年第2期20卷 479-480页

作者： joanna Mackiewicz Tomasz Boczek Department of Molecular Neurochemistry Medical University of LodzLodzPoland

The retina plays a fundamental role in the process of vision,serving as the primary interface between external visual stimuli and the central nervous *** the retina is exposed to a variety of environmental stresses and deleterious insults,it is susceptible to a spectrum of pathological conditions that can detrimentally affect *** often leads to irreversible vision loss due to the injury of specific cell *** instance,inherited retinal degeneration and age-related macular degeneration can lead to the death of photoreceptors,while conditions like glaucoma and optic nerve injury can result in the loss of ganglion *** precise pathological mechanisms driving retinal degeneration remain largely elusive,although research utilizing mouse models suggests that disruptions in intracellular signal transduction pathways may play a pivotal *** pathways within the retina orchestrate various aspects of retinal physiology,including phototransduction,synaptic transmission,and neuronal survival.

关键词： degeneration utilizing irreversible

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Oxidative stress factors in Parkinson's disease

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Neural Regeneration Research 2021年第7期16卷 1383-1391页

作者： Jolanta Dorszewska Marta Kowalska Michał Prendecki Thomas Piekut joanna Kozłowska Wojciech Kozubski Laboratory of Neurobiology Department of NeurologyPoznan University of Medical SciencesPoznanPoland Chair and Department of Neurology Poznan University of Medical SciencesPoznanPoland

Parkinson's disease(PD) is the second most common cause of *** the last two decades, various hypotheses have been proposed to explain the etiology of *** these is the oxidant-antioxidant theory, which asserts that local and systemic oxidative damage triggered by reactive oxygen species and other free radicals may promote dopaminergic neuron *** reactive oxygen species formation, one of the underlying causes of pathology in the course of PD has been evidenced by various studies showing that oxidized macromolecules including lipids, proteins, and nucleic acids accumulate in brain tissues of PD *** oxidation may produce various lesions in the course of *** incurred as a result of DNA oxidation may further enhance reactive oxygen species production in the brains of PD patients, exacerbating neuronal loss due to defects in the mitochondrial electron transport chain, antioxidant depletion, and exposure to toxic oxidized *** protein products of SNCA, PRKN, PINK1, DJ1, and LRRK2 genes are associated with disrupted oxidoreductive homeostasis in *** is the first gene linked with familial PD and is currently known to be affected by six mutations correlated with the disorder: A53T, A30P, E46K, G51D, H50Q and *** encodes Parkin, an E3 ubiquitin ligase which mediates the proteasome degradation of redundant and disordered proteins such as glycosylated α-*** 100 mutations have been found among the 12 exons of ***1, a mitochondrial kinase highly expressed in the brain, may undergo loss of function mutations which constitute approximately 1–8% of early onset PD *** than 50 PD-promoting mutations have been found in *** in DJ-1, a neuroprotective protein, are a rare cause of early onset PD and constitute only 1% of *** 20 mutations have been found in DJ1 among PD patients thus *** in the LRRK2 gene are the most common known cause of familial autosomal d

关键词： genetic factors molecular parameters oxidative stress Parkinson's disease pharmacotherapy surgical therapies

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Spatially variable soils affecting geotechnical strip foundation design

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Journal of Rock Mechanics and Geotechnical Engineering 2022年第3期14卷 886-895页

作者： joanna Pieczyńska-Kozowska Giovanna Vessia Department of Civil Engineering Wrocław University of Science and TechnologyWrocław50-370Poland Department of Engineering and Geology Universitàdegli Studi G.d’Annunzio Chieti-PescaraChieti66100Italy

Natural soil variability is a well-known issue in geotechnical design,although not frequently managed in *** subsoil must be characterized in terms of mechanical properties for infrastructure design,random finite element method(RFEM)can be effectively adopted for shallow foundation design to gain a twofold purpose:(1)understanding how much the bearing capacity is affected by the spatial variability structure of soils,and(2)optimisation of the foundation dimension(*** B).The present study focuses on calculating the bearing capacity of shallow foundations by RFEM in terms of undrained and drained *** spatial variability structure of soil is characterized by the autocorrelation function and the scale of fluctuation(δ).The latter has been derived by geostatistical tools such as the ordinary Kriging(OK)approach based on 182 cone penetration tests(CPTs)performed in the alluvial plain in Bologna Province,*** show that the increase of the B/δratio not only reduces the bearing capacity uncertainty but also increases its mean value under drained ***,under the undrained condition,the autocorrelation function strongly affects the mean values of bearing ***,the authors advise caution when selecting the autocorrelation function model for describing the soil spatial variability structure and point out that undrained conditions are more affected by soil variability compared to the drained ones.

关键词： Bearing capacity Shallow foundation Random finite element method(RFEM) Ordinary kriging(OK) Soil property variability structure Reliability-based design

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Bioactive injectable composites based on insulin-functionalized silica particles reinforced polymeric hydrogels for potential applications in bone tissue engineering

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Journal of Materials Science & Technology 2022年第10期105卷 153-163页

作者： Aleksandra Krajcer joanna Klara Wojciech Horak joanna Lewandowska-Łańcucka Faculty of Chemistry Jagiellonian UniversityGronostajowa 2Kraków 30-387Poland AGH University of Science and Technology Faculty of Mechanical Engineering and RoboticsDepartment of Machine Design and TechnologyAl.Mickiewicza 30Kraków 30-059Poland

Novel bioactive injectable composites based on biopolymeric hydrogels reinforced with insulin-functionalized silica particles were *** insulin(INS)was immobilized on the surface of amine-modifed silica particles employing covalent attachment by EDC/NHS chemistry and via electrostatic *** resulting formulations were examined for the morphology(SEM),chemical composition(FTIR,XPS)as well as protein *** facilitate the injectability and support the bone regeneration,developed particles were dispersed in biopolymeric sol composed of collagen,chitosan and lysinemodifed hyaluronic acid and crosslinked with *** means of rheological study,the sol-gel in situ transition of obtained systems was *** was found in vitro study that MG-63 cells cultured on the developed composites exhibit signifcantly higher alkaline phosphatase(ALP)activity,compared to the pristine ***,the biomineralization ability in the simulated body fluid(SBF)model was also *** fndings suggest that proposed herein novel hydrogel-based composites might be the promising formulation for regeneration of bone defects,especially as a less-cost effective support/alternative for BMP-2 systems.

关键词： Injectable composites Biopolymers Insulin-functionalized silica particles Bone tissue engineering

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Representative elementary volume analysis of polydisperse granular packings using discrete element method

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Particuology 2016年第4期14卷 88-94页

作者： joanna Wiacek Marek Molenda Institute of Agrophysics Polish Academy of Sciences Doswiadczalna 4 20-290 l.ublin Poland

The representative elementary volume （REV） for three-dimensional polydisperse granular packings was determined using discrete element method simulations. Granular mixtures of various sizes and particle size distributions were poured into a cuboid chamber and subjected to uniaxial compression, Findings showed that the minimum REV for porosity was larger compared with the REV for parameters such as coordination number, effective elastic modulus, and pressure ratio. The minimum REV for porosity and other parameters was found to equal 15,10, and 5 times the average grain diameter, respectively. A study of the influence of sample size on energy dissipation in random packing of spheres has also confirmed that the REV size is about 15 times the average grain diameter. The heterogeneity of systems was found to have no effect on the REV for the parameters of interest for the narrow range of coefficient of uniformity analyzed in this paper. As the REV approach is commonly applied in both experimental and numerical studies, determining minimum REV size for polydisperse granular packings remains a crucial issue.

关键词： Representative elementary volume Polydisperse packing Discrete element method Sample size effect

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Effect of particle polydispersity on micromechanical properties and energy dissipation in granular mixtures

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Particuology 2014年第5期12卷 91-99页

作者： joanna Wiacek Marek Molenda Institute of Agrophysics Polish Academy of SciencesDoswiadczalna 420-290 Lublin 27Poland

A series of numerical tests was conducted to study the micromechanical properties and energy dissipation in polydisperse assemblies of spherical particles subjected to uniaxial compression. In general, distributed particle size assemblies with standard deviations ranging from 0% to 80% of the particle mean diameter were examined. The microscale analyses included the trace of the fabric tensor, magnitude and orien- tation of the contact forces, trace of stress, number of contacts and degree of mobilization of friction in contacts between particles. In polydisperse samples, the average coordination numbers were lower than in monodisperse assemblies, and the mobilization of friction was higher than in monodisperse assemblies due to the non-uniform spatial rearrangement of spheres in the samples and the smaller displacements of the particles. The effect of particle size heterogeneity on both the energy density and energy dissipation in systems was also investigated.

关键词： Polydisperse packing Discrete element method Micromechanics Energy dissipation

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Evaluation of zeolite-sand mixtures as reactive materials protecting groundwater at waste disposal sites

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Journal of Environmental Sciences 2013年第9期25卷 1764-1772页

作者： Fronczyk joanna Garbulewski Kazimierz Faculty of Civil and Environmental Engineering Department of Geotechnical Engineering Warsaw University of Life Sciences-SGGW

To recognize properties of a mixture of Vistula sand （medium sand acc. to USCS） with Slovak zeolite as reactive materials suitable for permeable reactive barriers proposed for protection of groundwater environment in vicinity of old landfills comprehensive laboratory investigations were performed. The present study investigates the removal of contaminants specific for landfill leachates onto zeolite-sand mixtures containing 20%, 50% and 80% of zeolite （ZS20, ZS50 and ZS80）. Taking into account the results of batch tests it was concluded that the Langmuir isotherm best fitted the data. It was observed that the presence of ammonium, calcium and magnesium decreases the removal efficiency of copper by 32%. Column tests of contaminant migration through the attenuation zone of the reactive materials were interpreted using the software package CXTFIT, which solves a one-dimensional advection-dispersion equation. Column test results also indicate the strong influence of the presence of interfering substances on copper immobilisation; dynamic sorption capacities decrees twofold. Throughout the landfill leachate flow through ZS80 sample, a constant reduction of NH＋4 （at 100%）, K＋（at 93%） and Fe total （at an average of 86%） were observed. There was no reduction in chemical oxygen demand and biochemical oxygen demand.

关键词： permeable reactive barrier reactive materials sorption criteria contaminants migration zeolite-sand mixture break-through curves

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Studies on Effect of Tri（2-hydroxypropyl）, Tri（2-hydroxybutyl） and Tri（hydroxythiodiethylene） Borates on Thermal and Heat Properties of Rigid Polyurethane-Polyisocyanurate Foams

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Chinese Journal of Chemistry 2006年第12期24卷 1796-1799页

作者： CZUPRYNSKI Boguslaw PACIOREK-SADowska joanna LISZKowska joanna Casimir the Great Academy of Bydgoszcz Chodkiewicza str. 30 85-064 Bydgoszcz Poland

Effect of tri（2-hydroxypropyl）, tri（2-hydroxybutyl）and tri（hydroxythiodiethylene） borates （BT2HB, BT2HP and BTHET） on the thermal and heat properties of the rigid polyurethane-polyisocyanurate （PUR-PIR） foams was investigated： Increasing amounts of BT2HB and BT2HP in the foam composition, from 0.05 to 0.4 of chemical equivalent, caused increases in the softening point, the temperature of the first mass loss, the extrapolated tempera- ture of the main mass loss foam and temperature of the highest rate of the mass loss. In the case when BTHTE was added to the foam compositions, the lower increase in the mentioned above characteristic temperatures was observed as compared to those of standard foam （without borate added）.

关键词： rigid PUR-PIR foam heat and thermal resistance thermogravimetric analysis softening point

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Life cycle assessment of opencast lignite mining

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International Journal of Coal Science & Technology 2021年第6期8卷 1272-1287页

作者： Lukasz Lelek joanna Kulczycka Mineral and Energy Economy Research Institute Polish Academy of SciencesWybickiego 7A Str.31-261 CracowPoland Faculty of Management AGH University of Science and Technology30-067 CracowPoland

The life cycle phase of fossil fuel extraction is mainly considered in the life cycle assessment(LCA)when evaluating the energy production *** is then only one of many unit processes,which contribute to the blurring of mining-relevant *** are few items in the literature focusing exclusively on the lignite mining phase and analysing the specific mining conditions and associated environmental *** article focuses on the LCA of lignite mining processes on the basis of data coming from a Polish *** technology for opencast lignite mining is noted for its high production efficiency,high level of recovery and lower risk as regards the safety of workers when compared with underground mining ***,the need to remove large amounts of overburden to uncover the deposit contributes to a much greater degradation of the *** the results obtained,several key(hot spot)elements of the lignite mining operations were distinguished for modelling the environmental impact,i.e.:calorific value,the amount of electricity consumption,the manner in which waste and overburden are *** a result there is a high sensitivity of the final indicator to changes in these impacts.

关键词： Life cycle assessment(LCA) Lignite Mining Fossil fuel

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