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1. Comparative Study of Fatigue Life Assessment Made by Different Approaches

Author

Bernatowska, E., Leń, D., Ślęczka, L., di Prisco, Marco, Series Editor, Chen, Sheng-Hong, Series Editor, Vayas, Ioannis, Series Editor, Kumar Shukla, Sanjay, Series Editor, Sharma, Anuj, Series Editor, Kumar, Nagesh, Series Editor, Wang, Chien Ming, Series Editor, Blikharskyy, Zinoviy, editor, Koszelnik, Piotr, editor, and Mesaros, Peter, editor

Published
2020
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4. A Multi-center, Open-Label, Single-Arm Trial to Evaluate the Efficacy, Pharmacokinetics, and Safety and Tolerability of IGSC 20% in Subjects with Primary Immunodeficiency (Jan, 10.1007/s10875-021-01181-6, 2022)

Author

Santamaria, M, Neth, O, Douglass, JA, Krivan, G, Kobbe, R, Bernatowska, E, Grigoriadou, S, Bethune, C, Chandra, A, Horneff, G, Borte, M, Sonnenschein, A, Kralickova, P, Ramon, SS, Langguth, DD, Gonzalez-Granado, LI, Alsina, L, Querolt, M, Griffin, R, Hames, C, Mondou, E, Price, J, Sanz, A, Lin, J, Santamaria, M, Neth, O, Douglass, JA, Krivan, G, Kobbe, R, Bernatowska, E, Grigoriadou, S, Bethune, C, Chandra, A, Horneff, G, Borte, M, Sonnenschein, A, Kralickova, P, Ramon, SS, Langguth, DD, Gonzalez-Granado, LI, Alsina, L, Querolt, M, Griffin, R, Hames, C, Mondou, E, Price, J, Sanz, A, and Lin, J

Published
2022

5. A Multi-Center, Open-Label, Single-Arm Trial to Evaluate the Efficacy, Pharmacokinetics, and Safety and Tolerability of IGSC 20% in Subjects with Primary Immunodeficiency

Author

Santamaria, M, Neth, O, Douglass, JA, Krivan, G, Kobbe, R, Bernatowska, E, Grigoriadou, S, Bethune, C, Chandra, A, Horneff, G, Borte, M, Sonnenschein, A, Kralickova, P, Ramon, SS, Langguth, D, Gonzalez-Granado, LI, Alsina, L, Querolt, M, Griffin, R, Hames, C, Mondou, E, Price, J, Sanz, A, Lin, J, Santamaria, M, Neth, O, Douglass, JA, Krivan, G, Kobbe, R, Bernatowska, E, Grigoriadou, S, Bethune, C, Chandra, A, Horneff, G, Borte, M, Sonnenschein, A, Kralickova, P, Ramon, SS, Langguth, D, Gonzalez-Granado, LI, Alsina, L, Querolt, M, Griffin, R, Hames, C, Mondou, E, Price, J, Sanz, A, and Lin, J

Abstract

PURPOSE: The purpose of this phase 3 study was to evaluate the efficacy, pharmacokinetics (PK), and safety of Immune Globulin Subcutaneous (Human), 20% Caprylate/Chromatography Purified (IGSC 20%) in patients with primary immunodeficiency (PI). METHODS: Immunoglobulin treatment-experienced subjects with PI received 52 weeks of IGSC 20% given weekly at the same dose as the subject's previous IgG regimen (DAF 1:1); the minimum dose was 100 mg/kg/week. The primary endpoint was serious bacterial infections (SBIs [null vs alternative hypothesis: SBI rate per person per year ≥ 1 vs < 1]). IgG subclasses and specific pathogen antibody levels were also measured. RESULTS: Sixty-one subjects (19 children [≤ 12 years], 10 adolescents [> 12-16 years], and 32 adults) were enrolled. The rate of SBIs per person per year was 0.017. The 1-sided 99% upper confidence limit was 0.036 (< 1), and the null hypothesis was rejected. The rate of hospitalization due to infection per person per year was 0.017 (2-sided 95% confidence interval: 0.008-0.033) overall. The mean trough total IgG concentrations were comparable to the previous IgG replacement regimen. The average of the individual mean trough ratios (IGSC 20%:previous regimen) was 1.078 (range: 0.83-1.54). The average steady-state mean trough IgG concentrations were 947.64 and 891.37 mg/dL, respectively. Seven subjects had serious treatment-emergent adverse events (TEAEs); none was drug-related. The rate of all TEAEs, including local infusion site reactions, during 3045 IGSC 20% infusions was 0.135. Most TEAEs were mild or moderate. CONCLUSIONS: IGSC 20% demonstrated efficacy and good safety and tolerability in subjects with PI.

Published
2022

6. A Multi-Center, Open-Label, Single-Arm Trial to Evaluate the Efficacy, Pharmacokinetics, and Safety and Tolerability of IGSC 20% in Subjects with Primary Immunodeficiency

Author

Santamaria M, Neth O, Douglass JA, Krivan G, Kobbe R, Bernatowska E, Grigoriadou S, Bethune C, Chandra A, Horneff G, Borte M, Sonnenschein A, Kralickova P, Ramón SS, Langguth D, Gonzalez-Granado LI, Alsina L, Querolt M, Griffin R, Hames C, Mondou E, Price J, Sanz A, and Lin J

Subjects
Primary immunodeficiency, immunoglobulin replacement therapy, GTI1503, subcutaneous, 20% immunoglobulin
Abstract

Purpose The purpose of this phase 3 study was to evaluate the efficacy, pharmacokinetics (PK), and safety of Immune Globulin Subcutaneous (Human), 20% Caprylate/Chromatography Purified (IGSC 20%) in patients with primary immunodeficiency (PI). Methods Immunoglobulin treatment-experienced subjects with PI received 52 weeks of IGSC 20% given weekly at the same dose as the subject's previous IgG regimen (DAF 1:1); the minimum dose was 100 mg/kg/week. The primary endpoint was serious bacterial infections (SBIs [null vs alternative hypothesis: SBI rate per person per year >= 1 vs < 1]). IgG subclasses and specific pathogen antibody levels were also measured. Results Sixty-one subjects (19 children [ 12-16 years], and 32 adults) were enrolled. The rate of SBIs per person per year was 0.017. The 1-sided 99% upper confidence limit was 0.036 (< 1), and the null hypothesis was rejected. The rate of hospitalization due to infection per person per year was 0.017 (2-sided 95% confidence interval: 0.008-0.033) overall. The mean trough total IgG concentrations were comparable to the previous IgG replacement regimen. The average of the individual mean trough ratios (IGSC 20%:previous regimen) was 1.078 (range: 0.83-1.54). The average steady-state mean trough IgG concentrations were 947.64 and 891.37 mg/dL, respectively. Seven subjects had serious treatment-emergent adverse events (TEAEs); none was drug-related. The rate of all TEAEs, including local infusion site reactions, during 3045 IGSC 20% infusions was 0.135. Most TEAEs were mild or moderate. Conclusions IGSC 20% demonstrated efficacy and good safety and tolerability in subjects with PI.

Published
2022

10. The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

Author

Sharapova, S.O. (Svetlana O.), Skomska-Pawliszak, M. (Małgorzata), Rodina, Y.A. (Yulia A.), Wolska-Kusnierz, B. (Beata), Dabrowska-Leonik, N. (Nel), Mikoluc, B. (Bozena), Pashchenko, O.E. (Olga E.), Pasic, S. (Srdjan), Freiberger, T. (Tomáš), Milota, T. (Tomáš), Formánková, R. (Renata), Szaflarska, A. (Anna), Siedlar, M. (Maciej), Avcin, T. (Tadej), Markelj, G. (Gašper), Ciznar, P. (P.), Kalwak, K. (Krzysztof), Kołtan, S. (Sylwia), Jackowska, T. (Teresa), Drabko, K. (Katarzyna), Gagro, A. (Alenka), Pac, M. (Malgorzata), Naumova, E. (Elissaveta), Kandilarova, S. (Snezhina), Babol-Pokora, K. (Katarzyna), Varabyou, D.S. (Dzmitry S.), Barendregt, B.H. (Barbara), Raykina, E.V. (Elena V.), Varlamova, T.V. (Tatiana V.), Pavlova, A.V. (Anna V.), Grombirikova, H. (Hana), Debeljak, M. (Maruša), Mersiyanova, I.V. (Irina V.), Bondarenko, A.V. (Anastasiia V.), Chernyshova, L.I. (Liudmyla I.), Kostyuchenko, L. (Larysa), Guseva, M. (Marina), Rascon, J. (Jelena), Muleviciene, A. (Audrone), Preiksaitiene, E. (Egle), Geier, C.B. (Christoph B.), Leiss-Piller, A. (Alexander), Yamazaki, Y. (Yasuhiro), Kawai, T. (Tomoki), Walter, J.E. (Jolan E.), Kondratenko, I. (Irina), Sediva, A. (A.), Burg, M. (Mirjam) van der, Kuzmenko, N.B. (Natalia B.), Notarangelo, L.D. (Luigi Daniele), Bernatowska, E. (Ewa), Aleinikova, O. (O.), Sharapova, S.O. (Svetlana O.), Skomska-Pawliszak, M. (Małgorzata), Rodina, Y.A. (Yulia A.), Wolska-Kusnierz, B. (Beata), Dabrowska-Leonik, N. (Nel), Mikoluc, B. (Bozena), Pashchenko, O.E. (Olga E.), Pasic, S. (Srdjan), Freiberger, T. (Tomáš), Milota, T. (Tomáš), Formánková, R. (Renata), Szaflarska, A. (Anna), Siedlar, M. (Maciej), Avcin, T. (Tadej), Markelj, G. (Gašper), Ciznar, P. (P.), Kalwak, K. (Krzysztof), Kołtan, S. (Sylwia), Jackowska, T. (Teresa), Drabko, K. (Katarzyna), Gagro, A. (Alenka), Pac, M. (Malgorzata), Naumova, E. (Elissaveta), Kandilarova, S. (Snezhina), Babol-Pokora, K. (Katarzyna), Varabyou, D.S. (Dzmitry S.), Barendregt, B.H. (Barbara), Raykina, E.V. (Elena V.), Varlamova, T.V. (Tatiana V.), Pavlova, A.V. (Anna V.), Grombirikova, H. (Hana), Debeljak, M. (Maruša), Mersiyanova, I.V. (Irina V.), Bondarenko, A.V. (Anastasiia V.), Chernyshova, L.I. (Liudmyla I.), Kostyuchenko, L. (Larysa), Guseva, M. (Marina), Rascon, J. (Jelena), Muleviciene, A. (Audrone), Preiksaitiene, E. (Egle), Geier, C.B. (Christoph B.), Leiss-Piller, A. (Alexander), Yamazaki, Y. (Yasuhiro), Kawai, T. (Tomoki), Walter, J.E. (Jolan E.), Kondratenko, I. (Irina), Sediva, A. (A.), Burg, M. (Mirjam) van der, Kuzmenko, N.B. (Natalia B.), Notarangelo, L.D. (Luigi Daniele), Bernatowska, E. (Ewa), and Aleinikova, O. (O.)

Abstract

Background: Variants in recombination-activating genes (RAG) are common genetic causes of autosomal recessive forms of combined immunodeficiencies (CID) ranging from severe combined immunodeficiency (SCID), Omenn syndrome (OS), leaky SCID, and CID with granulomas and/or autoimmunity (CID-G/AI), and even milder presentation with antibody deficiency. Objective: We aim to estimate the incidence, clinical presentation, genetic variability, and treatment outcome with geographic distribution of patients with the RAG defects in populations inhabiting South, West, and East Slavic countries. Methods: Demographic, clinical, and laboratory data were collected from RAG-deficient patients of Slavic origin via chart review, retrospectively. Recombinase activity was determined in vitro by flow cytometry-based assay. Results: Based on the clinical and immunologic phenotype, our cohort of 82 patients from 68 families represented a wide spectrum of RAG deficiencies, including SCID (n = 20), OS (n = 37), and LS/CID (n = 25) phenotypes. Sixty-seven (81.7%) patients carried RAG1 and 15 patients (18.3%) carried RAG2 biallelic variants. We estimate that the minimal annual incidence of RAG deficiency in Slavic countries varies between 1 in 180,000 and 1 in 300,000 live births, and it may vary secondary to health care disparities in these regions. In our cohort, 70% (n = 47) of patients with RAG1 variants carried p.K86Vfs*33 (c.256_257delAA) allele, either in homozygous (n = 18, 27%) or in compound heterozygous (n = 29, 43%) form. The majority (77%) of patients with homozygous RAG1 p.K86Vfs*33 variant originated from Vistula watershed area in Central and Eastern Poland, and compound heterozygote cases were distributed among all Slavic countries except Bulgaria. Clinical and immunological presentation of homozygous RAG1 p.K86Vfs*33 cases was highly diverse (SCID, OS, and AS/CID) suggestive of strong influence of additional genetic and/or epigenetic factors in shaping the final phenotype. Con

Published
2020
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11. The Clinical and Genetic Spectrum of 82 Patients WithRAGDeficiency Including a c.256_257delAA Founder Variant in Slavic Countries

Author

Sharapova, SO, Skomska-Pawliszak, M, Rodina, YA, Wolska-Kusnierz, B, Dabrowska-Leonik, N, Mikoluc, B, Pashchenko, OE, Pasic, S, Freiberger, T, Milota, T, Formankova, R, Szaflarska, A, Siedlar, M, Avcin, T, Markelj, G, Ciznar, P, Kalwak, K, Kottan, S, Jackowska, T, Drabko, K, Gagro, A, Pac, M, Naumova, E, Kandilarova, S, Babol-Pokora, K, Varabyou, DS, Barendregt, Barbara, Raykina, EV, Varlamova, TV, Pavlova, AV, Grombirikova, H, Debeljak, M, Mersiyanova, IV, Bondarenko, AV, Chernyshova, LI, Kostyuchenko, LV, Guseva, MN, Rascon, J, Muleviciene, A, Preiksaitiene, E, Geier, CB, Leiss-Piller, A, Yamazaki, Y, Kawai, T, Walter, JE, Kondratenko, IV, Sediva, A, van der Burg, Mirjam, Kuzmenko, NB, Notarangelo, LD, Bernatowska, E, Aleinikova, OV, Sharapova, SO, Skomska-Pawliszak, M, Rodina, YA, Wolska-Kusnierz, B, Dabrowska-Leonik, N, Mikoluc, B, Pashchenko, OE, Pasic, S, Freiberger, T, Milota, T, Formankova, R, Szaflarska, A, Siedlar, M, Avcin, T, Markelj, G, Ciznar, P, Kalwak, K, Kottan, S, Jackowska, T, Drabko, K, Gagro, A, Pac, M, Naumova, E, Kandilarova, S, Babol-Pokora, K, Varabyou, DS, Barendregt, Barbara, Raykina, EV, Varlamova, TV, Pavlova, AV, Grombirikova, H, Debeljak, M, Mersiyanova, IV, Bondarenko, AV, Chernyshova, LI, Kostyuchenko, LV, Guseva, MN, Rascon, J, Muleviciene, A, Preiksaitiene, E, Geier, CB, Leiss-Piller, A, Yamazaki, Y, Kawai, T, Walter, JE, Kondratenko, IV, Sediva, A, van der Burg, Mirjam, Kuzmenko, NB, Notarangelo, LD, Bernatowska, E, and Aleinikova, OV

Published
2020

18. Wiskott-Aldrich Syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans

Author

Castiello MC, Bosticardo M, Pala F, Catucci M, Chamberlain N, van Zelm MC, Driessen GJ, Pac M, Bernatowska E, Scaramuzza S, Sauer AV, Traggiai E, Meffre E, Villa A, van der Burg M., AIUTI , ALESSANDRO, Castiello, Mc, Bosticardo, M, Pala, F, Catucci, M, Chamberlain, N, van Zelm, Mc, Driessen, Gj, Pac, M, Bernatowska, E, Scaramuzza, S, Aiuti, Alessandro, Sauer, Av, Traggiai, E, Meffre, E, Villa, A, and van der Burg, M.

Published
2014

19. The European internet-based patient and research database for primary immunodeficiencies: update 2011

Author

Gathmann B., Binder N., Ehl S., Kindle G., Mahlaoui N., Devergnes N., Brosselin P., Sanal O., Yegin O., Kutukculer N., Kilic S. S., Barlan I. B., Reisly I., Caracseghi F., Santos J. L., Llobet P., Carbone J., Granado L. I. G., Sanchez Ramon S., Tricas L., Matamoros N., Exley A., Kumaratne D., Alwood Z., Grimbacher B., Longhurst H., Knerr V., Bangs C., Boardman B., Tierney P., Chapel H., Notarangelo L. D., Plebani A., PIGNATA, CLAUDIO, Nickel R., Schauer U., Spath B., Caiser P., Roisler J., Bieneman K., Line R., Schubert R., El Helou S., Ritterbusch H., Goldacker S., Duckers G., Fabhauer M., Borte M., Notheis G., Belohradsky B. H., Sollinger F., Classen C. F., Apel K., Steinmann S., Muglich C., Szaflarska A., Bernatowska E., Heropolitansca E., Kuijpers T. W., van Beem R., Galal N. M., Reda S., Farber C. L., Meyts I., Velbri S., Kanariou M., Farmaki E., Papadopoulou Alataki E., Trachana M., Richter D., Blaziene A., Seidel M., Marques L., Feighery C., Cucuruz M., Konoplyannikova J., Paschenko O., Shcherbina A., Berglof A., Jardefors H., Wargstrom P., Brodszki N., Cantoni N., Dupenthaler A., Fahrni G., Hoernes M., Sahbacher U., Pasic S., Ciznar P., Jeverica A. K., Litzman J., Hlavackova E., Savchak I., Farkas H., Marodi L., Gathmann, B., Binder, N., Ehl, S., Kindle, G., Mahlaoui, N., Devergnes, N., Brosselin, P., Sanal, O., Yegin, O., Kutukculer, N., Kilic, S. S., Barlan, I. B., Reisly, I., Caracseghi, F., Santos, J. L., Llobet, P., Carbone, J., Granado, L. I. G., Sanchez Ramon, S., Tricas, L., Matamoros, N., Exley, A., Kumaratne, D., Alwood, Z., Grimbacher, B., Longhurst, H., Knerr, V., Bangs, C., Boardman, B., Tierney, P., Chapel, H., Notarangelo, L. D., Plebani, A., Pignata, Claudio, Nickel, R., Schauer, U., Spath, B., Caiser, P., Roisler, J., Bieneman, K., Line, R., Schubert, R., El Helou, S., Ritterbusch, H., Goldacker, S., Duckers, G., Fabhauer, M., Borte, M., Notheis, G., Belohradsky, B. H., Sollinger, F., Classen, C. F., Apel, K., Steinmann, S., Muglich, C., Szaflarska, A., Bernatowska, E., Heropolitansca, E., Kuijpers, T. W., van Beem, R., Galal, N. M., Reda, S., Farber, C. L., Meyts, I., Velbri, S., Kanariou, M., Farmaki, E., Papadopoulou Alataki, E., Trachana, M., Richter, D., Blaziene, A., Seidel, M., Marques, L., Feighery, C., Cucuruz, M., Konoplyannikova, J., Paschenko, O., Shcherbina, A., Berglof, A., Jardefors, H., Wargstrom, P., Brodszki, N., Cantoni, N., Dupenthaler, A., Fahrni, G., Hoernes, M., Sahbacher, U., Pasic, S., Ciznar, P., Jeverica, A. K., Litzman, J., Hlavackova, E., Savchak, I., Farkas, H., and Marodi, L.

Abstract

In order to build a common data pool and estimate the disease burden of primary immunodeficiencies (PID) in Europe, the European Society for Immunodeficiencies (ESID) has developed an internet-based database for clinical and research data on patients with PID. This database is a platform for epidemiological analyses as well as the development of new diagnostic and therapeutic strategies and the identification of novel disease-associated genes. Since its start in 2004, 13,708 patients from 41 countries have been documented in the ESID database. Common variable immunodeficiency (CVID) represents the most common entity with 2880 patients or 21% of all entries, followed by selective immunoglobulin A (sIgA) deficiency (1424 patients, 10·4%). The total documented prevalence of PID is highest in France, with five patients per 100,000 inhabitants. The highest documented prevalence for a single disease is 1·3 per 100,000 inhabitants for sIgA deficiency in Hungary. The highest reported incidence of PID per 100,000 live births was 16·2 for the period 1999-2002 in France. The highest reported incidence rate for a single disease was 6·7 for sIgA deficiency in Spain for the period 1999-2002. The genetic cause was known in 36·2% of all registered patients. Consanguinity was reported in 8·8%, and 18·5% of patients were reported to be familial cases; 27·9% of patients were diagnosed after the age of 16. We did not observe a significant decrease in the diagnostic delay for most diseases between 1987 and 2010. The most frequently reported long-term medication is immunoglobulin replacement.

Published
2012

20. XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts

Author

Noordzij, J.G., Bruin-Versteeg, S. de, Hartwig, N.G., Weemaes, C.M.R., Gerritsen, E.J., Bernatowska, E., Lierde, S. van, Groot, R. de, and Dongen, J.J.M. van

Subjects
immune system diseases, hemic and lymphatic diseases, Pediatric Oncology. Treatment of children with cancer, Kinderoncologie. Behandeling van kinderen met kanker
Abstract

Item does not contain fulltext X-linked agammaglobulinemia is caused by mutations in the BTK gene, which result in a precursor B-cell differentiation arrest in the bone marrow and the absence of or strongly reduced B lymphocytes in blood. We identified a patient with a mild clinical phenotype, low numbers of B lymphocytes, and a splice-site mutation in the BTK gene. The precursor B-cell compartment in the bone marrow of this patient was almost identical to that in healthy children. Using real-time quantitative polymerase chain reaction, we were able to detect low levels of wild-type BTK transcripts in his granulocytes. Therefore, we speculated that wild-type BTK transcripts might be responsible for a milder clinical and immunological phenotype, as has been shown in several other diseases. Consequently, we quantified the expression of wild-type BTK transcripts in granulocytes of eight additional patients with splice-site mutations and compared their phenotypes with 17 patients with other types of BTK mutations. In these eight patients, the presence of low levels of wild-type BTK transcripts did not show a clear correlation with the percentage, absolute number, or immunophenotype of B lymphocytes nor with age or serum immunoglobulin levels at diagnosis. Nevertheless, we postulate that the presence of wild-type BTK transcripts can be one of the many factors that influence the clinical and immunological phenotype in X-linked agammaglobulinemia.

Published
2002

22. Nijmegen Breakage Syndrome. The International Nijmegen Breakage Syndrome Study Group

Author

Hiel, J.A.P., Weemaes, C.M.R., Heuvel, L.P.W.J. van den, Engelen, B.G.M. van, Gabreëls, F.J.M., Smeets, D.F.C.M., Burgt, C.J.A.M. van der, Chrzanowska, K.H., and Bernatowska, E.

Subjects
Breuk-gevoelige plaatsen in chromosomen bij de mens, Immuunstoornissen in relatie tot kinderen met (pre-)maligne aandoeningen, (Fragile) breakage-prone sites in human chromosomes, Ataxia telangiectasia immunologische, genetische en neurologische aspecten, Immune deficiencies in children (pre-)malignant diseases, Ataxia telangiectasia immunological, genetical and neurological aspects
Abstract

Item does not contain fulltext

Published
2000

24. Wiskott-Aldrich Syndrome protein deficiency pertubs the homeostatis of B-cell compartment in humans

Author

Castiello, MC, Bosticardo, M, Pala, F, Catucci, M, Chamberlain, N, van Zelm, Menno, Driessen, Gertjan, Pac, M, Bernatowska, E, Scaramuzza, S, Aiuti, A, Sauer, AV, Traggiai, E, Meffre, E, van der Burg, Mirjam, Castiello, MC, Bosticardo, M, Pala, F, Catucci, M, Chamberlain, N, van Zelm, Menno, Driessen, Gertjan, Pac, M, Bernatowska, E, Scaramuzza, S, Aiuti, A, Sauer, AV, Traggiai, E, Meffre, E, and van der Burg, Mirjam

Published
2014

25. Chronic granulomatous disease: The European experience

Author

van den Berg, J.M. van Koppen, E. Åhlin, A. Belohradsky, B.H. Bernatowska, E. Corbeel, L. Espanñol, T. Fischer, A. Kurenko-Deptuch, M. Mouy, R. Petropoulou, T. Roesler, J. Seger, R. Stasia, M.-J. Valerius, N.H. Weening, R.S. Wolach, B. Roos, D. Kuijpers, T.W.

Abstract

CGD is an immunodeficiency caused by deletions or mutations in genes that encode subunits of the leukocyte NADPH oxidase complex. Normally, assembly of the NADPH oxidase complex in phagosomes of certain phagocytic cells leads to a "respiratory burst", essential for the clearance of phagocytosed micro-organisms. CGD patients lack this mechanism, which leads to life-threatening infections and granuloma formation. However, a clear picture of the clinical course of CGD is hampered by its low prevalence (∼1:250,000). Therefore, extensive clinical data from 429 European patients were collected and analyzed. Of these patients 351 were males and 78 were females. X-linked (XL) CGD (gp91phox deficient) accounted for 67% of the cases, autosomal recessive (AR) inheritance for 33%. AR-CGD was diagnosed later in life, and the mean survival time was significantly better in AR patients (49.6 years) than in XL CGD (37.8 years), suggesting a milder disease course in AR patients. The disease manifested itself most frequently in the lungs (66% of patients), skin (53%), lymph nodes (50%), gastrointestinal tract (48%) and liver (32%). The most frequently cultured micro-organisms per episode were Staphylococcus aureus (30%), Aspergillus spp. (26%), and Salmonella spp. (16%). Surprisingly, Pseudomonas spp. (2%) and Burkholderia cepacia (

Published
2009

28. Gross Deletions Involving IGHM, BTK, or Artemis: A Model for Genomic Lesions Mediated by Transposable Elements

Author

Zelm, M.C. (Menno) van, Geertsema, C. (Corinne), Nieuwenhuis, N. (Nicole), Ridder, D. (Dick) de, Conley, M.E. (Mary Ellen), Schiff, C. (Claudine), Tezcan, I. (Ilhan), Bernatowska, E. (Ewa), Hartwig, N.G. (Nico), Sanders, E.A. (Elisabeth), Litzman, J. (Jiri), Kondratenko, I. (Irina), Dongen, J.J.M. (Jacques) van, Burger, C.W. (Curt), Zelm, M.C. (Menno) van, Geertsema, C. (Corinne), Nieuwenhuis, N. (Nicole), Ridder, D. (Dick) de, Conley, M.E. (Mary Ellen), Schiff, C. (Claudine), Tezcan, I. (Ilhan), Bernatowska, E. (Ewa), Hartwig, N.G. (Nico), Sanders, E.A. (Elisabeth), Litzman, J. (Jiri), Kondratenko, I. (Irina), Dongen, J.J.M. (Jacques) van, and Burger, C.W. (Curt)

Abstract

Most genetic disruptions underlying human disease are microlesions, whereas gross lesions are rare with gross deletions being most frequently found (6%). Similar observations have been made in primary immunodeficiency genes, such as BTK, but for unknown reasons the IGHM and DCLRE1C (Artemis) gene defects frequently represent gross deletions (∼60%). We characterized the gross deletion breakpoints in IGHM-, BTK-, and Artemis-deficient patients. The IGHM deletion breakpoints did not show involvement of recombination signal sequences or immunoglobulin switch regions. Instead, five IGHM, eight BTK, and five unique Artemis breakpoints were located in or near sequences derived from transposable elements (TE). The breakpoints of four out of five disrupted Artemis alleles were located in highly homologous regions, similar to Ig subclass deficiencies and Vh deletion polymorphisms. Nevertheless, these o

Published
2008
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30. Optymalny zakres badań cytometrycznych wykorzystywanych dla celów diagnostyki ciężkich złożonych niedoborów odporności

Author

Piątosa, B., primary, Wolska-Kuśnierz, B., additional, Klaudel-Dreszler, M., additional, van der Burg, M., additional, Siewiera, K., additional, Heropolitańska-Pliszka, E., additional, Pietrucha, B., additional, Pac, M., additional, Rękawek, A., additional, Tkaczyk, K., additional, and Bernatowska, E., additional

Published
2013
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31. Efficacy and safety of Hizentra® in patients with primary immunodeficiency after a dose-equivalent switch from intravenous or subcutaneous replacement therapy

Author

Jolles, S., primary, Bernatowska, E., additional, de Gracia, J., additional, Borte, M., additional, Cristea, V., additional, Peter, H.H., additional, Belohradsky, B.H., additional, Wahn, V., additional, Neufang-Hüber, J., additional, Zenker, O., additional, and Grimbacher, B., additional

Published
2011
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33. Liver Transplantation for Severe Hepatic Graft-Versus-Host Disease in Two Children After Hematopoietic Stem Cell Transplantation

Author

Teisseyre, M., primary, Teisseyre, J., additional, Kalicinski, P., additional, Wolska-Kusnierz, B., additional, Ismail, H., additional, Bernatowska, E., additional, Markiewicz-Kijewska, M., additional, Ostoja-Chyzynska, A., additional, Jankowska, I., additional, Kluge, P., additional, Pawlowska, J., additional, and Szymczak, M., additional

Published
2010
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34. The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins

Author

Noordzij, J.G. (Jeroen), Bruin-Versteeg, S. (Sandra) de, Verkaik, N.S. (Nicole), Vossen, J.M.J.J. (Jaak), Groot, R. (Ronald) de, Bernatowska, E. (Ewa), Langerak, A.W. (Anton), Gent, D.C. (Dik) van, Dongen, J.J.M. (Jacques) van, Noordzij, J.G. (Jeroen), Bruin-Versteeg, S. (Sandra) de, Verkaik, N.S. (Nicole), Vossen, J.M.J.J. (Jaak), Groot, R. (Ronald) de, Bernatowska, E. (Ewa), Langerak, A.W. (Anton), Gent, D.C. (Dik) van, and Dongen, J.J.M. (Jacques) van

Abstract

The protein products of the recombination activating genes (RAG1 and RAG2) initiate the formation of immunoglobulin (Ig) and T-cell receptors, which are essential for B- and T-cell development, respectively. Mutations in the RAG genes result in severe combined immunodeficiency disease (SCID), generally characterized by the absence of mature B and T lymphocytes, but presence of natural killer (NK) cells. Biochemically, mutations in the RAG genes result either in nonfunctional proteins or in proteins

Published
2002

35. 'The immunophenotypic and immunogenotypic B-cell differentation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins'.

Author

Noordzij, J.G., Bruin-Versteeg, S. de, Verkaik, N.S., Vossen, J.M.J.J., Groot, R. de, Bernatowska, E., Langerak, A.W., Gent, D.C. van, Dongen, J.J.M. van, Noordzij, J.G., Bruin-Versteeg, S. de, Verkaik, N.S., Vossen, J.M.J.J., Groot, R. de, Bernatowska, E., Langerak, A.W., Gent, D.C. van, and Dongen, J.J.M. van

Abstract

Item does not contain fulltext

Published
2002

36. The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins

Author

Noordzij, Jeroen, Bruin - Versteeg, S, Verkaik, Nicole, Vossen, JMJJ, Groot, Ronald, Bernatowska, E, Langerak, Ton, van Gent, Dik, Dongen, Jacques, Noordzij, Jeroen, Bruin - Versteeg, S, Verkaik, Nicole, Vossen, JMJJ, Groot, Ronald, Bernatowska, E, Langerak, Ton, van Gent, Dik, and Dongen, Jacques

Published
2002

39. Efficacy and safety of Hizentra® in patients with primary immunodeficiency after a dose-equivalent switch from intravenous or subcutaneous replacement therapy

Author

Jolles, S., Bernatowska, E., de Gracia, J., Borte, M., Cristea, V., Peter, H.H., Belohradsky, B.H., Wahn, V., Neufang-Hüber, J., Zenker, O., and Grimbacher, B.

Subjects
*IMMUNODEFICIENCY, *DRUG efficacy, *INTRAVENOUS therapy, *SUBCUTANEOUS surgery, *IMMUNOGLOBULINS, *DRUG dosage, *THERAPEUTICS
Abstract

Abstract: A prospective, open-label, multicenter, single-arm, Phase III study evaluated the efficacy and safety of Hizentra®, a 20% human IgG for subcutaneous administration, in 51 primary immunodeficiency patients over 40weeks. Patients previously on intravenous or subcutaneous IgG were switched to weekly subcutaneous infusions of Hizentra® at doses equivalent to their previous treatment. IgG levels achieved with Hizentra® were similar to pre-study levels with subcutaneous, and higher by 17.7% than pre-study levels with intravenous IgG. No serious bacterial infections were reported in the efficacy period. The rate of all infections was 5.18/year/patient, the rates of days missed from work/school, and days spent in hospital were 8.00/year/patient and 3.48/year/patient, respectively. Local reactions (rate 0.060/infusion) were mostly mild (87.3%). No serious, Hizentra®-related adverse events were reported. Individual median infusion durations ranged between 1.14 and 1.27h. Hizentra® maintained or improved serum IgG levels without dose increases and effectively protected patients against infections. [Copyright &y& Elsevier]

Published
2011
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40. A multi-centre study of efficacy and safety of Intratect®, a novel intravenous immunoglobulin preparation.

Author

Kreuz, W., Erdös, M., Rossi, P., Bernatowska, E., Espanol, T., and Maródi, L.

Subjects
IMMUNOGLOBULIN G, OBSTRUCTIVE lung disease treatment, BACTERIAL diseases, RESPIRATORY infection treatment, RHINITIS
Abstract

We studied the efficacy, safety and pharmacokinetic profiles of Intratect®, a recently developed polyvalent intravenous immunoglobulin (IVIG) preparation. Fifty-one patients (aged 6–48 years) with primary immunodeficiencies (PID) and established replacement therapy using a licensed IVIG were enrolled and treated for 12 months with Intratect®. Retrospective patient data served as prestudy controls. The primary efficacy variable was the annual rate of acute serious bacterial infection (ASBI) per patient. Secondary parameters were annual rate of acute relevant infection (ARI), days with antibiotic use, fever, absence from school/work and hospitalization. The average IVIG dose was 0·49 g/kg, with an average infusion rate of 2·4 ml/kg/h. The annual ASBI rate/patient was 0·02 and ARIs were detected 128 times during the 630 adverse events in 40 patients, specified mainly as bronchitis, sinusitis, respiratory tract infection, rhinitis and pharyngitis. The annual rate of respiratory ARIs/patient was 2·0 and the rates/patient for days with fever >38°C, school/work absence and hospitalization were 1·81, 3·99 and 0·36, respectively. A total of 630 adverse events (AEs) were observed in 50 of 51 (98·0%) of patients. In 46 of 51 patients the AEs were not related to infusion. Pharmacokinetic studies after the first infusion revealed a mean elimination half-life of 50·8 ± 30·3 days. During this study, 19 of 649 (2·9%) IgG trough levels were below 6 g/l, better than that of reference IVIGs during the 6 months before study start (10 of 201). These data suggest that Intratect® is a well tolerated, safe and effective IgG concentrate for the treatment of patients with PID. [ABSTRACT FROM AUTHOR]

Published
2010
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41. Interaction of campylobacter species with antibody, complement and phagocytes.

Author

Bernatowska, E, Jose, P, Davies, H, Stephenson, M, and Webster, D

Abstract

The opsonisation of four different campylobacter species for human neutrophils was studied using a chemiluminescence system and electron microscopy. Opsonisation of Campylobacter fetus, Campylobacter coli, and Campylobacter jejuni was mediated by antibody and enhanced by complement. Antibody was not, however, required for the phagocytosis of Campylobacter pylori because it activates the classical pathway of complement directly. This unusual property may be important in the pathogenesis of C pylori associated gastritis and duodenal ulcer. [ABSTRACT FROM PUBLISHER]

Published
1989

44. Nijmegen breakage syndrome

Author

Krajewska-Walasek, M., Barbi, G., Bialecka, M., Matsuura, S., Wegner, R.D., Abramczuk, D., Conley, M.E., Sperling, K., Gregorek, H., Concannon, P., Dixon, J., Michalkiewicz, J., Gatti, R.A., Maraschio, P., Perek, D., Marseglia, G.L., Midro, A.T., Green, A., Seemanová, E., Taylor, A.M., Belohradsky, B.H., Kaloustian, V.M. der, Sölder, B., Komatsu, K., Hiel, J.A., Weemaes, C.M., Heuvel, L.P. van den, Engelen, B.G. van, Gabreëls, F.J., Smeets, D.F., Burgt, I. van der, Chrzanovska, K.H., and Bernatowska, E.

Abstract

Background Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder. NBS-1, the gene defective in NBS, is located on chromosome 8q21 and has recently been cloned. The gene product, nibrin, is a novel protein, which is member of the hMre11/hRad50 protein complex, suggesting that the gene is involved in DNA double strand break repair. Aims To study the clinical and laboratory features of NBS as well as the genotype-phenotype relation. Methods Fifty five patients with NBS, included in the NBS registry in Nijmegen were evaluated. The majority of the patients were of eastern European ancestry. Most of them had shown a truncating 5 bp deletion 657-661 delACAAA. Four further truncating mutations have been identified in patients with other distinct haplotypes. Results and conclusions Essential features found in NBS were microcephaly, usually without severe retardation, typical facial appearance, immunodeficiency, chromosomal instability, x ray hypersensitivity, and predisposition to malignancy. In 40% of the patients cancer was noted before the age of 21 years. Important additional features were skin abnormalities, particularly café au lait spots and vitiligo, and congenital malformations, particularly clinodactyly and syndactyly. Congenital malformations, immunodeficiency, radiation hypersensitivity, and cancer predispostion were comprehensible in case of dysfunctioning of DNA repair mechanisms. No specific genotype-phenotype relation could be found. Patients with the same genotype may show different phenotypes and patients with different genotypes may express the same phenotype. Specific mutations did not lead to specific clinical features.

Published
2000

45. Net section fracture assessment of steel bolted joints with shear lag effect

Author

Bernatowska Edyta and Ślęczka Lucjan

Subjects
Engineering (General). Civil engineering (General), TA1-2040
Abstract

Bolted connections are willingly used in steel structures because of their easiness of fabrication and assembly, but often they are the weakest component in the construction. In case of tensile lap connections, fracture of net cross section usually determines a joint capacity. Additionally, possible eccentricities can affect the distribution of stresses in the cross section and hence its load capacity. Analysis of fracture is a completely different issue compared to well-known and established problems of stability or plastic resistance. Paper relates to steel angle tension members connected by one bolt. It starts from the description of experimental investigations which results were used for hierarchical validation of computational models. Choice between two types of material models (elastic-plastic and Gurson–Tvergaard–Needleman) and building of FE models, representing different degrees of complexity, were described. Paper ends with parametric study taking into account influence of the edge distance from the centre of a fastener hole to the adjacent edge of angle. The paper’s aim is to verify and present the methodology for fracture prediction in steel angle tension members, which can be next extended for bolted joints with larger number of bolts and different geometrical configurations.

Published
2019
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46. Strengthening of a steel girder with web openings

Author

Wojnar Andrzej and Bernatowska Edyta

Subjects
Engineering (General). Civil engineering (General), TA1-2040
Abstract

The paper presents results of investigation carried out on structure of the cultural center building in Dębica in Poland. Technical condition of mentioned building after 40 years of exploitation did not allow for its further use. In order to check the reliability of the structure, the authorities of the city commissioned an expertise. This study included basic structure measurements, loads statement and static analysis as well as check of limit states. As a result of the conducted analyses, it was found that the roof structure made of steel girder with web openings did not comply with resistant conditions. The paper presents brief description of building structure, numerical analyses and proposals of strengthening the roof girder.

Published
2019
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47. Nijmegen breakage syndrome

Author

Hiel, Ja, Weemaes, Cm, Den Heuvel, Lp, Engelen, Bg, Gabreels, Fj, Smeets, Df, Burgt, I., Chrzanovska, Kh, Bernatowska, E., Krajewska-Walasek, M., Bialecka, M., Abramczuk, D., Gregorek, H., Michalkiewicz, I., Perek, D., Midro, At, Seemanova, E., Belohradsky, Bh, Solder, B., Barbi, G., Wegner, Rd, Sperling, K., Dixon, J., Maraschio, P., Marseglia, Gl, Green, A., Taylor, Am, Kaloustian, Vm, Komatsu, K., Shinya Matsuura, Conley, Me, Concannon, P., Gatti, Ra, and Int Nijmegen Breakage Syndrome Stu

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