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1. Development of New Series of Certified Reference Materials for Ferrosilicon Magnesium Alloys.

Author

Kostrzewa, Justyna, Anyszkiewicz, Jacek, Gorewoda, Tadeusz, Jamroz, Ewa, Blandhol, Kjell, Guldhav, Alf Yngve, Knapik, Magdalena, Charasińska, Jadwiga, and Jakóbik-Kolon, Agata

Subjects
REFERENCE sources, FERROSILICON, FLUORESCENCE spectroscopy, X-ray fluorescence, MAGNESIUM alloys, MANUFACTURING processes, SILICON alloys
Abstract

This paper presents a practical approach to the production of certified reference materials (CRMs) for ferrosilicon magnesium alloys. These new CRMs are predicted to be used in fast X-ray fluorescence spectrometry (XRF) analysis, which does not require sample digestion and does not result in the production of acidic sewage and emissions, contrary to the classical and instrumental techniques currently used in laboratories. Four new certified reference materials (CRMs) were developed to fill the gap in the reference materials market and ensure fast and traceable analyses. The materials were produced with an industrial process and then homogenized and mixed to achieve the required compositions and level of homogeneity. The homogeneity was determined using specially developed analytical methods and confirmed statistically by ANOVA. Additionally, the results of the tests show the short- and long-term stabilities of the new materials. The certified values for specific element contents were determined in interlaboratory tests. All results were assessed statistically for outliers. The results from three or more independent and different analytical methods were used for the calculations. In parallel homogeneity, the stability, and characterization standard uncertainties were calculated and used in the estimation of the final expanded uncertainties of the certified values. Finally, four new CRMs were assisted with the proper certificates according to ISO standards. [ABSTRACT FROM AUTHOR]

Published
2024
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4. Comprehensive genomic analysis of patients with disorders of cerebral cortical development

Author

Wiszniewski, Wojciech, Gawlinski, Pawel, Gambin, Tomasz, Bekiesinska-Figatowska, Monika, Obersztyn, Ewa, Antczak-Marach, Dorota, Akdemir, Zeynep Hande Coban, Harel, Tamar, Karaca, Ender, Jurek, Marta, Sobecka, Katarzyna, Nowakowska, Beata, Kruk, Malgorzata, Terczynska, Iwona, Goszczanska-Ciuchta, Alicja, Rudzka-Dybala, Mariola, Jamroz, Ewa, Pyrkosz, Antoni, Jakubiuk-Tomaszuk, Anna, Iwanowski, Piotr, Gieruszczak-Bialek, Dorota, Piotrowicz, Malgorzata, Sasiadek, Maria, Kochanowska, Iwona, Gurda, Barbara, Steinborn, Barbara, Dawidziuk, Mateusz, Castaneda, Jennifer, Wlasienko, Pawel, Bezniakow, Natalia, Jhangiani, Shalini N., Hoffman-Zacharska, Dorota, Bal, Jerzy, Szczepanik, Elzbieta, Boerwinkle, Eric, Gibbs, Richard A., and Lupski, James R.

Published
2018
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7. Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

Author

Dawidziuk, Mateusz, primary, Gambin, Tomasz, additional, Bukowska-Olech, Ewelina, additional, Antczak-Marach, Dorota, additional, Badura-Stronka, Magdalena, additional, Buda, Piotr, additional, Budzynska, Edyta, additional, Castaneda, Jennifer, additional, Chilarska, Tatiana, additional, Czyzyk, Elzbieta, additional, Eckersdorf-Mastalerz, Anna, additional, Fijak-Moskal, Jolanta, additional, Gieruszczak-Bialek, Dorota, additional, Glodek-Brzozowska, Ewelina, additional, Goszczanska-Ciuchta, Alicja, additional, Grzeszykowska-Podymniak, Malgorzata, additional, Gurda, Barbara, additional, Jakubiuk-Tomaszuk, Anna, additional, Jamroz, Ewa, additional, Janeczko, Magdalena, additional, Jedlińska-Pijanowska, Dominika, additional, Jurek, Marta, additional, Karolewska, Dagmara, additional, Kazmierczak, Adela, additional, Kleist, Teresa, additional, Kochanowska, Iwona, additional, Krajewska-Walasek, Malgorzata, additional, Kufel, Katarzyna, additional, Kutkowska-Kaźmierczak, Anna, additional, Lipiec, Agata, additional, Maksym-Gasiorek, Dorota, additional, Materna-Kiryluk, Anna, additional, Mazurkiewicz, Hanna, additional, Milewski, Michał, additional, Pavina-Guglas, Tatsiana, additional, Pietrzyk, Aleksandra, additional, Posmyk, Renata, additional, Pyrkosz, Antoni, additional, Rudzka-Dybala, Mariola, additional, Slezak, Ryszard, additional, Wisniewska, Marzena, additional, Zalewska-Miszkurka, Zofia, additional, Szczepanik, Elzbieta, additional, Obersztyn, Ewa, additional, Bekiesinska-Figatowska, Monika, additional, Gawlinski, Pawel, additional, and Wiszniewski, Wojciech, additional

Published
2021
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8. Modyfikowane membrany krzemionkowo-celulozowe w zatężaniu i oznaczaniu śladowych ilości pierwiastków techniką rentgenowskiej spektrometrii fluorescencyjnej z dyspersją energii

Author

Jamroz, Ewa and Sitko, Rafał

Subjects
membrany, krzemionka, rentgenowska spektrometria fluorescencyjna, zatężanie pierwiastków
Abstract

X-ray fluorescence spectrometry (XRF) is a commonly used analytical technique in the elemental analysis of a wide variety of solid samples. Nevertheless, direct analysis of liquid samples is still associated with technical difficulties, which contribute to significant errors in the obtained results. Moreover, the typical detection limits at the level of mg L-1 are unsatisfactory for environmental and industrial requirements. Therefore, most of the research related to the analysis of liquid samples using the XRF technique requires preconcentration procedures prior to analysis. Considering that solid samples are favorable in XRF analysis, it is preferable to use preconcentration methods leading to thin solid samples (e.g., membranes). For the thin layer, the matrix effects, which are one of the significant sources of error in XRF analysis, can be neglected, and the low detection limits at the level of ng L-1 can be achieved due to the high signal to background ratio. The aim of the PhD thesis was to develop the new analytical procedures based on the metal ion adsorption on the surface of cellulose-silica membranes and their direct detection by energy dispersive X-Ray fluorescence spectrometry (EDXRF). New adsorbents such as cellulose/SiO2/SH, cellulose/SiO2/1N, cellulose/SiO2/2N, and cellulose/SiO2/3N were prepared by covering the fibers of the cellulose filter with silica via the hydrolysis of tetraethoxysilane in an alkaline solution. Next, the surface of the membranes was modified using organosilanes containing thiol and amino groups. The structure and chemical composition of obtained membranes were characterized by scanning electron microscopy with energy-dispersive X-ray spectroscopy, X-ray diffraction, and X-ray fluorescence spectrometry. Moreover, the pH value of the zero point of the membranes was determined by the potentiometric titration method. In the next step, adsorptive properties of obtained membranes toward selected ions of metals, i.e., Cu2+, Ni2+, Co2+, Pb2+, Cr3+, CrO42-, AsO33-, AsO43-, SeO32- and SeO42- were investigated. For this purpose, the influence of pH, sample volume, and adsorption time were investigated. Then, the adsorption capacity of the obtained membranes for selected ions of metals was determined, and the influence of foreign ions on adsorption was verified. The studies showed that the thiol-modified membranes selectively adsorb As(III) ions, while the amino-modified membranes groups adsorb Cr(VI) ions. In the next part of the work, analytical methods for the concentration and determination of trace amounts of As(III) and Cr(VI) ions were developed using miniaturized membranes with 5 mm diameter and an EDXRF spectrometer equipped with an X-ray tube of 9W power. Detection limits were obtained at the level of 0,045 μg L-1 and 0,16 μg L-1 for As(III) and Cr(VI), respectively. Obtaining such low detection limits, lower by 3-4 orders of magnitude compared with direct XRF analysis of liquid samples, was possible due to the low background and high enrichment factors of 972 and 650, respectively. The developed analytical procedures were successfully applied to the analysis of drinking, tap, sea, ground-water, and sewage samples.

Published
2021

11. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Author

Timal, Sharita, Hoischen, Alexander, Lehle, Ludwig, Adamowicz, Maciej, Huijben, Karin, Sykut-Cegielska, Jolanta, Paprocka, Justyna, Jamroz, Ewa, van Spronsen, Francjan J., Körner, Christian, Gilissen, Christian, Rodenburg, Richard J., Eidhof, Ilse, Van den Heuvel, Lambert, Thiel, Christian, Wevers, Ron A., Morava, Eva, Veltman, Joris, and Lefeber, Dirk J.

Published
2012
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14. Xp21.2 contiguous gene syndrome due to deletion involving glycerol kinase and Duchenne muscular dystrophy loci

Author

Jamroz, Ewa, Paprocka, Justyna, Popowska, Ewa, Pytel, Justyna, Ciara, Elzbieta, and Adamowicz, Maciej

Subjects
Duchenne muscular dystrophy -- Risk factors -- Genetic aspects -- Research, Metabolic diseases -- Risk factors -- Diagnosis -- Care and treatment, Glycerol kinase -- Physiological aspects -- Genetic aspects -- Research, Health
Abstract

Byline: Ewa. Jamroz, Justyna. Paprocka, Ewa. Popowska, Justyna. Pytel, Elzbieta. Ciara, Maciej. Adamowicz Sir, Glycerol kinase deficiency (GKD, MIM 307030) is an X-linked recessive metabolic disorder, characterized by hyperglycerolemia, glyceroluria [...]

Published
2010

16. Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis—The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

Author

Jezela-Stanek, Aleksandra, primary, Ciara, Elżbieta, additional, Piekutowska-Abramczuk, Dorota, additional, Trubicka, Joanna, additional, Jurkiewicz, Elżbieta, additional, Rokicki, Dariusz, additional, Mierzewska, Hanna, additional, Spychalska, Justyna, additional, Uhrynowska, Małgorzata, additional, Szwarc-Bronikowska, Marta, additional, Buda, Piotr, additional, Said, Abdul Rahim, additional, Jamroz, Ewa, additional, Rydzanicz, Małgorzata, additional, Płoski, Rafał, additional, Krajewska-Walasek, Małgorzata, additional, and Pronicka, Ewa, additional

Published
2016
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19. Coffin-siris syndrome in a four-year-old girl: a case presentation

Author

Gluszkiewicz, Ewa, Jezela-Stanek, Aleksandra, Marszal, Elzbieta, Kalemba, Barbara, and Jamroz, Ewa

Subjects
Genetic disorders -- Case studies, Health
Abstract

Abstract Coffin-Siris syndrome is a rare genetic abnormality with undetermined pattern of inheritance. In this syndrome most frequent findings include: mental retardation associated with coarse features, hypoplasia or absence of [...]

Published
2005

24. Bone dysplasia with optic atrophy, vascular malformation and seizures in a 14-year-old girl : a case report

Author

Kuleta-Bosak, Elżbieta, Jamroz, Ewa, Augustyn, Danuta, Głuszkiewicz, Ewa, Kluczewska, Ewa, and Gibińska, Joanna

Subjects
optic atrophy, bone dysplasia, osteopetrosis, vascular malformation
Abstract

Background: The heritable skeletal dysplasias or osteochondrodysplasias are a large heterogeneous group of disorders associated with abnormal shape, growth, or integrity of bones. Osteopetrosis is a collective term for a range of sclerosing bone diseases with various degree of defective remodeling. Increased bone density is the predominant radiologic feature. The skull is often involved with basal sclerosis and the sinuses are obliterated. The most serious consequences of the osteopetroses are seen in the nervous system. Because of perturbed remodeling of the skull bones, many aspects of the brain and cranial nerve function are endangered. Cranial nerves, blood vessels and the spinal cord may be compressed by progressive occlusion of cranial foramina. Carious, misplaced teeth, dysplastic fingernails, tendency to pathologic fractures are the other clinical manifestations. Case report: The authors present a 14-year-old girl with dysmorphic features, optic atrophy, CNS vessel malformation, pathologic fractures and seizures. The girl had a wide range of clinical and radiographic symptoms of bone dysplasias together with a giant left internal carotid artery aneurysm and epilepsy. Conclusions: On the basis of clinical and radiological features, a disease belonging to the group of skeletal dysplasias was recognized in our patient. The configuration of the presented symptoms does not allow at the moment strict classification to hitherto determined forms of dysplasia. This leads to the necessity of extending diagnostics, especially by molecular tests, and further long-lasting observations, which perhaps would allow classification of the presented syndrome to one of the known groups, or determination of a new clinical entity.

Published
2007

25. Ischemic stroke in children in course of moyamoya disease : case report

Author

Pietruszewski, Jerzy, Jamroz, Ewa, Gruszczyńska, Katarzyna, Baron, Jan, Głuszkiewicz, Ewa, and Gibińska, Joanna

Subjects
moyamoya, ischemic stroke, imaging
Abstract

Background: Progressive stenosis of the supraclinoid segments of the internal carotid arteries, followed by formation of characteristic collateral brain circulation is typical for moyamoya disease. This illness, with unknown pathogenesis, is often diagnosed in Asiatic population. In Poland it can be a rare cause of ischemic infarcts in children. Case report: Two cases of cerebral ischemic infarct due to moyamoya disease in girls aged 7 and 12 are presented. The final diagnosis was established after MR exams and digital subtraction angiography (DSA) of the cerebral arteries. Conclusions: In spite of rare incidence, the moyamoya disease should be considered as the potential cause of cerebral ischemic infarctions in children. Despite the main role of the DSA in establishment of the final diagnosis, noninvasive neuroradiological examinations become more and more important in diagnostic schedule of moyamoya disease. MR and MR angiography visualize characteristic radiological symptoms, enabling preliminary diagnosis and are the method of choice in control examinations.

Published
2007

27. Mild Zellweger syndrome due to a novel PEX6mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity

Author

Rydzanicz, Małgorzata, Stradomska, Teresa, Jurkiewicz, Elżbieta, Jamroz, Ewa, Gasperowicz, Piotr, Kostrzewa, Grażyna, Płoski, Rafał, and Tylki-Szymańska, Anna

Abstract

Zellweger syndrome (ZS) is a consequence of a peroxisome biogenesis disorder (PBD) caused by the presence of a pathogenic mutation in one of the 13 genes from the PEX family. ZS is a severe multisystem condition characterized by neonatal appearance of symptoms and a shorter life. Here, we report a case of ZS with a mild phenotype, due to a novel PEX6gene mutation. The patient presented subtle craniofacial dysmorphic features and slightly slower psychomotor development. At the age of 2 years, he was diagnosed with adrenal insufficiency, hypoacusis, and general deterioration. Magnetic resonance imaging showed a symmetrical hyperintense signal in the frontal and parietal white matter. Biochemical tests showed elevated liver transaminases, elevated serum very long chain fatty acids, and phytanic acid. After the death of the child at the age of 6 years, molecular diagnostics were continued in order to provide genetic counseling for his parents. Next generation sequencing (NGS) analysis with the TruSight One™ Sequencing Panel revealed a novel homozygous PEX6p.Ala94Pro mutation. In silico prediction of variant severity suggested its possible benign effect. To conclude, in the milder phenotypes, adrenal insufficiency, hypoacusis, and leukodystrophy together seem to be pathognomonic for ZS.

Published
2017
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28. The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype–phenotype correlation

Author

Pronicka, Ewa, primary, Piekutowska-Abramczuk, Dorota, additional, Szymańska-Dębińska, Tamara, additional, Bielecka, Liliana, additional, Kowalski, Paweł, additional, Łuczak, Sylwia, additional, Karkucińska-Więckowska, Agnieszka, additional, Migdał, Marek, additional, Kubalska, Jolanta, additional, Zimowski, Janusz, additional, Jamroz, Ewa, additional, Wierzba, Jolanta, additional, Sykut-Cegielska, Jolanta, additional, Pronicki, Maciej, additional, Zaremba, Jacek, additional, and Krajewska-Walasek, Małgorzata, additional

Published
2013
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39. Molecular studies of Polish patients with respiratory chain complex I deficiency

Author

Kowalski, Paweł, primary, Piekutowska-Abramczuk, Dorota, additional, Popowska, Ewa, additional, Karczmarewicz, Elżbieta, additional, Bielecka, Liliana, additional, Kryśkiewicz, Edyta, additional, Jamroz, Ewa, additional, Pilch, Jacek, additional, Ciara, Elżbieta, additional, Jurkiewicz, Dorota, additional, Borucka-Mankiewicz, Maria, additional, Tańska, Anna, additional, Łuczak, Sylwia, additional, Pelc, Magdalena, additional, Trubicka, Joanna, additional, Krajewska-Walasek, Małgorzata, additional, Elpeleg, Orly, additional, Smeitink, Jan, additional, and Pronicka, Ewa, additional

Published
2010
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46. Clinical and Radiologic Features of Unilateral and Bilateral Schizencephaly in Polish Pediatric Patients.

Author

Kopyta, Ilona, Jamroz, Ewa, Kluczewska, Ewa, and Sarecka-Hujar, Beata

Subjects
*JUVENILE diseases, *BRAIN diseases, *HUMAN abnormalities, *EPILEPSY, *DEVELOPMENTAL delay
Abstract

Schizencephaly is a rare and severe congenital brain defect. Its etiology is not unequivocal and its clinical course differs with every case. The aim of the study was to analyze correlations between clinical and radiologic features of schizencephaly in Polish patients. The study group consisted of 25 children. Epileptic seizures were observed in 60% of cases and in 32% epilepsy was drug resistant. Generalized hypotonia was found in 24%, spastic diparesis in 48%, and spastic hemiparesis in 28% of cases. Seizures were more frequent in the bilateral than unilateral schizencephaly subgroup (72% vs 29%, P = .045). There was a correlation between the presence of the bilateral type II schizencephaly and the occurrence of seizures (P = .002, r = 0.578). There is a correlation between the type of schizencephaly and the presence of seizures in Polish pediatric patients. In most of the patients, schizencephaly leads to developmental retardation and epileptic seizures. [ABSTRACT FROM PUBLISHER]

Published
2014
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47. Bridging the gap between metabolic profile determination and visualization in neurometabolic disorders: a multivariate analysis of proton magnetic resonance in vivo spectra.

Author

Skorupa, Agnieszka, Jamroz, Ewa, Paprocka, Justyna, Sokół, Maria, Wicher, Magdalena, and Kiełtyka, Aleksandra

Abstract

The purpose of this work was to check the degree of overlap between rare inborn errors of metabolism and other neurological disorders using principal component analysis of proton magnetic resonance spectroscopy (1H MRS) in vivo data. We examined 60 patients (median age of 22 months). Fourteen of them were diagnosed with neurometabolic disorders (three cases of metachromatic leukodystrophy, two cases of Canavan disease, two cases of megalencephalic leukoencephalopathy with subcortical cysts, three cases of mitochondrial cytopathy, one case of nonketotic hyperglycinemia, one case of globoid leukodystrophy, one case of congenital disorders of glycosylation, and one case of ethylmalonic encephalopathy). The remaining 46 patients were diagnosed with epilepsy, cerebral palsy, and developmental delay. Results obtained from principal component analysis of complete unresolved 1H MRS in vivo spectra were interpreted parallelly with LCModel-derived metabolite levels. The main attention was paid to the following metabolites: N-acetylaspartate, glutamate + glutamine, creatine, choline, myo-inositol signal with an uncertain contribution of glycine, and glucose. 1H MRS in vivo coupled with multivariate analysis is an efficient tool in visualization of metabolic abnormalities in several inborn errors of metabolism (metachromatic leukodystrophy, globoid leukodystrophy, megalencephalic leukoencephalopathy with subcortical cysts, and Canavan disease). Copyright © 2013 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Published
2013
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49. Clinical and neuropathological picture of ethylmalonic aciduria - diagnostic dilemma.

Author

Jamroz, Ewa, Paprocka, Justyna, Adamek, Dariusz, Pytel, Justyna, Szczechowska, Katarzyna, Grabska, Natalia, Malec, Michalina, Głuszkiewicz, Ewa, Daab, Michał, and Wodołażski, Anatolij

Abstract

Increased ethylmalonic acid (EMA) in urine is a non-specific finding, and is observed in a number of inborn errors of metabolism, as well as in individuals who carry one of two common polymorphisms identified in the SCAD coding region. The authors present an 8-month-old girl with a suspicion of neuroinfection, although the clinical presentation led to diagnosis of ethylmalonic aciduria. From the neuropathological point of view the most remarkable changes were observed in the brain cortex, which was diffusely damaged practically in all regions of the brain. Of note, the most severe destruction was observed in the deepest regions of the sulci. The cortex of the affected regions showed no normal stratification and its structure was almost totally replaced by a form of "granulation tissue" with a markedly increased number of capillaries. To the authors' knowledge this is the first clinical report of ethylmalonic aciduria with brain autopsy findings. [ABSTRACT FROM AUTHOR]

Published
2011

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