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19 results on '"Mierzewska-Schmidt M"'

1. Spondyloepimetaphyseal dysplasia with neurodegeneration associated withAIFM1mutation - a novel phenotype of the mitochondrial disease

Author

Mierzewska, H., primary, Rydzanicz, M., additional, Biegański, T., additional, Kosinska, J., additional, Mierzewska-Schmidt, M., additional, Ługowska, A., additional, Pollak, A., additional, Stawiński, P., additional, Walczak, A., additional, Kędra, A., additional, Obersztyn, E., additional, Szczepanik, E., additional, and Płoski, R., additional

Published
2016
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2. Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.

Author

Mierzewska, H., Rydzanicz, M., Biegański, T., Kosinska, J., Mierzewska‐Schmidt, M., Ługowska, A., Pollak, A., Stawiński, P., Walczak, A., Kędra, A., Obersztyn, E., Szczepanik, E., and Płoski, R.

Subjects
MITOCHONDRIAL pathology, CELLULAR pathology, DYSPLASIA, NEURODEGENERATION, DEGENERATION (Pathology)
Abstract

In 1999, based on a single family, spondyloepimetaphyseal dysplasia ( SEMD) with mental retardation ( MR) was described as a novel syndrome with probably X-linked recessive inheritance and unknown molecular defect ( MIM 300232). Our purpose was to search for the causative defect in the originally described family and in an independently ascertained second family. All patients had slowly progressive neurodegeneration with central and peripheral involvement and identical skeletal dysplasia. Whole exome sequencing performed in two subjects showed a single plausible candidate - the p.Asp237Gly variant in AIFM1 (chr. Xq26.1). The p.Asp237Gly segregated with disease as indicated by linkage analysis [maximum logarithm of odds score (LOD) score at theta 0 for the two families was 3.359]. This variant had not been previously reported and it was predicted to be pathogenic by Polyphen2, SIFT, MutationTaster and Mutation Assessor. AIFM1 encodes mitochondria associated apoptosis-inducing factor. The AIFM1 gene has been linked with COXPD6 encephalomyopathy ( MIM 300816), Cowchock syndrome ( MIM 310490) and X-linked deafness with neuropathy ( DFNX5, MIM 300614), none of which are similar to SEMD-MR. Our results place SEMD as the third instance of a skeletal phenotype associated with a mitochondrial disease (the others being EVEN-PLUS syndrome caused by mutations of HSPA9 and CODAS syndrome due to LONP1 mutations). [ABSTRACT FROM AUTHOR]

Published
2017
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4. Alexander disease - astrogliopathy considered as leukodystrophy - experience of an institution

Author

Mierzewska H, Mierzewska-Schmidt M, Gs, Salomons, Dudzińska M, Elżbieta Szczepanik, Clinical chemistry, and Amsterdam Neuroscience - Cellular & Molecular Mechanisms

Abstract

Alexander Disease (ALXDRD) is an autosomal dominant leukodystrophy caused by mutation in one allele of GFAP gene, encoding glial fibrillary acidic protein (GFAP). Most cases occur due to de novo. There are three clinical subtypes of ALXDRD: infantile, juvenile and adult form, but congenital form is also outlined. The disease's spectrum comprises of macrocephaly, progressive pyramidal signs, and seizures in congenital and infantile subtypes. Neuropathologically are enormous number of Rosenthal fibers (RF) mainly around vessels, in subependymal and subpial regions are found. The diagnosis is based on the typical findings on MRI: diffuse white mater lesions with frontal regions preponderance and possibly on the detection of the gene mutation. Here we present six Polish children affected of Alexander disease with congenital (1), infantile (4) and juvenile (1) form. Five of them were previously misdiagnosed as cerebral palsy or unspecific developmental delay; two patients had MRI because of another suspicion, before specific diagnosis was established. Molecular analysis performed in four cases confirmed mutations of GFAP gene; all mutation were de novo. The role of astroglia in brain is shortly reviewed.

5. Corrigendum to ‘Difficult tracheal intubation in neonates and infants. NEonate and Children audiT of Anaesthesia pRactice IN Europe (NECTARINE):a prospective European multicentre observational study’ (Br J Anaesth 2021; 126: 1173–81) (British Journal of Anaesthesia (2021) 126(6) (1173–1181), (S0007091221001161), (10.1016/j.bja.2021.02.021))

Author

Nicola Disma, Katalin Virag, Thomas Riva, Jost Kaufmann, Thomas Engelhardt, Walid Habre, Christian Breschan, Rudolf Likar, Manuela Platzer, Isole Edelman, Johanes Eger, Stefan Heschl, Brigitte Messerer, Maria Vittinghof, Ruth Kroess, Martina Stichlberger, David Kahn, Thierry Pirotte, Caroline Pregardien, Francis Veyckemans, France Stevens, Johan Berghmans, Annemie Bauters, Luc De Baerdemaeker, Stefan De Hert, Koen Lapage, Aliaksandra Parashchanka, Jurgen Van Limmen, Piet Wyffels, Julie Lauweryns, Nadia Najafi, Joris Vundelinckx, Diana Butković, Ivana Kerovec Sorić, Sandra Kralik, Ana Markić, Josip Azman, Josko Markic, Daniela Pupacic, Michal Frelich, Petr Reimer, René Urbanec, Petra Cajková, Vladimír Mixa, Yvona Sedláčková, Lenka Knoppová, Alena Zlámalová (neé Květoňová), Martin Vavřina, Jiří Žurek, Tom Hansen, Arash Afshari, Anders Bastholm Bille, Marguerite Ellekvist, Mari-Liis Ilmoja, Reet Moor, Reet Kikas, Merle Väli, Kariantti Kallio, Elisa Reponen, Pertti Suominen, Sami Suvanto, Raisa Vähätalo, Hannu Kokki, Merja Kokki, Jarkko Harju, Miia Kokkonen, Jenni Vieri, Tuula Manner, Catherine Amory, Hugues Ludot, Dina Bert, Juliette Godart, Anne Laffargue, Hervé Dupont, Benjamin Urbina, Catherine Baujard, Philippe Roulleau, Giuseppe Staiti, Maryline Bordes, Karine Nouette Gaulain, Yann Hamonic, François Semjen, Olivier Jacqmarcq, Caroline Lejus-Bourdeau, Cécile Magne, Léa Petry, Lilica Ros, Aurélien Zang, Mehdi Bennis, Bernard Coustets, Rose Fesseau, Isabelle Constant, Eliane Khalil, Nada Sabourdin, Noemie Audren, Thomas Descarpentries, Fanny Fabre, Aurélien Legrand, Emilie Druot, Gilles Orliaguet, Lucie Sabau, Lynn Uhrig, François de la Brière, Karin Jonckheer, Jean-Paul Mission, Lucia Scordo, Caroline Couchepin, Christophe Dadure, Pablo De la Arena, Laurent Hertz, Philippe Pirat, Chrystelle Sola, Myriam Bellon, Souhayl Dahmani, Florence Julien-Marsollier, Daphne Michelet, Veronique Depret-Donatien, Anne Lesage, Michael Laschat, Frank Wappler, Karin Becke, Lena Brunner, Karin Oppenrieder, Gregor Badelt, Karin Hochmuth, Bernhard Koller, Anita Reil, Sebastian Richter, Thomas Fischer, Anja Diers, Clemens Schorer, Andreas Weyland, Ruth Cohausz, Franz-Josef Kretz, Michaela Löffler, Markus Wilbs, Claudia Hoehne, Johanna Ulrici, Christiane Goeters, Armin Flinspach, Matthias Klages, Simone Lindau, Leila Messroghli, Kai Zacharowski, Christoph Eisner, Thomas Mueller, Daniel Richter, Melanie Schäfer, Markus Weigand, Sebastian Weiterer, Miriam Ochsenreiter, Michael Schöler, Tom Terboven, Isabel Eggemann, Sascha Haussmann, Nicolas Leister, Christoph Menzel, Uwe Trieschmann, Sirin Yücetepe, Susanna Keilig, Peter Kranke, Yvonne Jelting, Torsten Baehner, Richard Ellerkmann, Shahab Ghamari, Claudia Neumann, Martin Söhle, Pelagia Chloropoulou, Vagia Ntritsou, Pinelopi Papagiannopoulou, Eleana Garini, Afroditi Karafotia, Panagoula Mammi, Evangelia Bali, Despoina Iordanidou, Anna Malisiova, Artemis Polyzoi, Adelais Tsiotou, Erzsebet Sapi, Edgar Székely, Nandor Kosik, Veronika Maráczi, Janos Schnur, Judit Csillag, János Gál, Gergely Göbl, Balázs Hauser, András Petróczy, Gyula Tövisházi, Stuart Blain, Sarah Gallagher, Sinead Harte, Mandy Jackson, Emma Meehan, Zeenat Nawoor, Brendan O’Hare, Mark Ross, Daniela Lerro, Marinella Astuto, Chiara Grasso, Rita Scalisi, Giulia Frasacco, Elena Lenares, Roberto Leone, Maurizia Grazzini, Carmelo Minardi, Nicola Zadra, Gilda Cinnella, Antonella Cotoia, Dario Galante, Brita De Lorenzo, Beate Kuppers, Giulia Bottazzi, Fabio Caramelli, Maria Cristina Mondardini, Emanuele Rossetti, Sergio Picardo, Alessandro Vittori, Anna Camporesi, Andrea Wolfler, Edoardo Calderini, Laura Brigitta Colantonio, Simona Anna Finamore, Giuliana Anna Porro, Rachele Bonfiglio, Svetlana Kotzeva, Leila Mameli, Girolamo Mattioli, Camilla Micalizzi, Alessia Montaguti, Angela Pistorio, Clelia Zanaboni, Anna Guddo, Gerald Rogan Neba, Moreno Favarato, Bruno Guido Locatelli, Micol Maffioletti, Valter Sonzogni, Rossella Garra, Maria Sammartino, Fabio Sbaraglia, Andrea Cortegiani, Alessandra Moscarelli, Elena Attanasi, Simonetta Tesoro, Cristina Agapiti, Francesca Pinzoni, Cesare Vezzoli, Federico Bilotta, Arta Barzdina, Zane Straume, Anda Zundane, Laura Lukosiene, Irena Maraulaite, Ilona Razlevice, Bernd Schmitz, Stephanie Mifsud, Carolin Aehling, Celia Allison, Rients De Boer, Dina Emal, Markus Stevens, Marielle Buitenhuis, Jurgen de Graaff, Inge De Liefde, Andreas Machotta, Gail Scoones, Lonneke Staals, Jeremy Tomas, Anouk Van der Knijff-van Dortmont, Marianne Veldhuizen, David Alders, Wolfgang Buhre, Eva Schafrat, Jan Schreiber, Petronella Mari Vermeulen, Mark Hendriks, Sandra Lako, Marieke Voet-Lindner, Barbe Pieters, Gert-Jan Scheffer, Luc Tielens, Anthony R. Absalom, Margot Bergsma, Joke De Ruiter, Sascha Meier, Martin Volkers, Tjerk Zweers, Anne M. Beukers, Christa Boer, Jurgen Dertinger, Sandra Numan, Bas Van Zaane, Wenche B. Boerke, Nil Ekiz, Kristoffer Stensrud, Inger Marie Drage, Erik Ramon Isern, Alicja Bartkowska-Sniatkowska, Malgorzata Grzeskowiak, Magdalena Juzwa-Sobieraj, Jowita Rosada-Kurasińska, Artur Baranowski, Karina Jakubowska, Dorota Lewandowska, Magdalena Mierzewska-Schmidt, Piotr Sawicki, Magdalena Urban-Lechowicz, Pomianek Przemyslaw, Marzena Zielinska, Teresa Leal, Maria Soares, Pedro Pina, Sílvia Pinho, Maria Domingas Patuleia, Catarina Cruz Esteves, Helena Salgado, Maria João Santos, Rodica Badeti, Iulia Cindea, Loredana Oana, Adriana Gurita, Luminita Ilie, Gabriel Mocioiu, Radu Tabacaru, Irina Trante, Valentin Munteanu, Mihai Morariu, Emese Nyíri, Ivana Budic, Vesna Marjanovic, Biljana Drašković, Marina Pandurov, Jordanka Ilic, Ana Mandras, Zdenka Rados, Nikola Stankovic, Maja Suica, Sladjana Vasiljevic, Mirjana Knezevic, Irina Milojevic, Ivana Petrov, Selena Puric Racic, Dusica Simic, Irena Simic, Marija Stevic, Irena Vulicevic, Barbora Cabanová, Miloslav Hanula, Jelena Berger, Darja Janjatovic, Špela Pirtovšek Štupnik, Dolores Méndez, Gema Pino, Paloma Rubio, Alberto Izquierdo, Silvia López, Cristina González Serrano, Jesús Cebrián, Ana Peleteiro, Pilar Del Rey de Diego, Ernesto Martínez García, Carolina Tormo de las Heras, Pablo Troncoso Montero, Celia Arbona, David Artés, Alicia Chamizo, Silvia Serrano, Montserrat Suarez Comas, Francisco Escribá, Cristina Auli, Osvaldo Pérez Pardo, Natalia Sierra Biddle, Ceferina Suárez Castaño, María Isabel Villalobos Rico, Susana Manrique Muñoz, Irene García Martínez, Nuria Montferrer Estruch, Elena Vilardell Ortíz, Rodrigo Poves-Álvarez, Ivan Kohn, Ulf Lindestam, Jarl Reinhard, Albert Castellheim, Kerstin Sandström, Sporre Bengt, Rainer Dörenberg, Peter Frykholm, Maria Garcia, Ann Kvarnström, Emma Pontén, Thomas Bruelisauer, Gabor Erdoes, Heiko Kaiser, Mathias Marchon, Stefan Seiler, Yann Bögli, Mirko Dolci, Carine Marcucci, Isabelle Pichon, Laszlo Vutskits, Mattias Casutt, Martin Hölzle, Thomas Hurni, Martin Jöhr, Anna-Ursina Malär, Jacqueline Mauch, Thomas Erb, Karin Oeinck, Mine Akin, Gulsen Keskin, Yesim Senayli, Guner Kaya, Pinar Kendigelen, Ayse Çiğdem Tutuncu, Zehra Hatipoğlu, Dilek Özcengiz, Hale Aksu Erdost, Elvan Öçmen, Çimen Olguner, Hilmi Ayanoglu, Pelin Corman Dincer, Tumay Umuroglu, Mustafa Azizoglu, Handan Birbiçer, Nurcan Doruk, Aslı Sagun, Sibel Baris, Dmytro Dmytriiev, Sridevi Kuchi, Nuria Masip, Peter Brooks, Alison Hare, Nargis Ahmad, Michelle Casey, Sam De Silva, Nadine Dobby, Prakash Krishnan, L. Amaki Sogbodjor, Ellie Walker, Suellen Walker, Stephanie King, Katy Nicholson, Michelle Quinney, Paul Stevens, Andrew Blevin, Mariangela Giombini, Chulananda Goonasekera, Sadia Adil, Stephanie Bew, Carol Bodlani, Dan Gilpin, Stephanie Jinks, Nalini Malarkkan, Alice Miskovic, Rebecca Pad, Juliet Wolfe Barry, Joy Abbott, James Armstrong, Natalie Cooper, Lindsay Crate, John Emery, Kathryn James, Hannah King, Paul Martin, Stefano Scalia Catenacci, Rob Bomont, Paul Smith, Sara Mele, Alessandra Verzelloni, Philippa Dix, Graham Bell, Elena Gordeva, Lesley McKee, Esther Ngan, Jutta Scheffczik, Li-En Tan, Mark Worrall, Carmel Cassar, Kevin Goddard, Victoria Barlow, Vimmi Oshan, Khairi Shah, Sarah Bell, Lisa Daniels, Monica Gandhi, David Pachter, Chris Perry, Andrew Robertson, Carmen Scott, Lynne Waring, David Barnes, Sophie Childs, Joanne Norman, Robin Sunderland, Dowell Julia, Feijten Prisca, Harlet Pierre, Herbineaux Sarah, Leva Brigitte, Plichon Benoît, Virág Katalin, Disma N., Virag K., Riva T., Kaufmann J., Engelhardt T., Habre W., Breschan C., Likar R., Platzer M., Edelman I., Eger J., Heschl S., Messerer B., Vittinghof M., Kroess R., Stichlberger M., Kahn D., Pirotte T., Pregardien C., Veyckemans F., Stevens F., Berghmans J., Bauters A., De Baerdemaeker L., De Hert S., Lapage K., Parashchanka A., Van Limmen J., Wyffels P., Lauweryns J., Najafi N., Vundelinckx J., Butkovic D., Kerovec Soric I., Kralik S., Markic A., Azman J., Markic J., Pupacic D., Frelich M., Reimer P., Urbanec R., Cajkova P., Mixa V., Sedlackova Y., Knoppova L., Zlamalova (nee Kvetonova) A., Vavrina M., Zurek J., Hansen T., Afshari A., Bille A.B., Ellekvist M., Ilmoja M.-L., Moor R., Kikas R., Vali M., Kallio K., Reponen E., Suominen P., Suvanto S., Vahatalo R., Kokki H., Kokki M., Harju J., Kokkonen M., Vieri J., Manner T., Amory C., Ludot H., Bert D., Godart J., Laffargue A., Dupont H., Urbina B., Baujard C., Roulleau P., Staiti G., Bordes M., Nouette Gaulain K., Hamonic Y., Semjen F., Jacqmarcq O., Lejus-Bourdeau C., Magne C., Petry L., Ros L., Zang A., Bennis M., Coustets B., Fesseau R., Constant I., Khalil E., Sabourdin N., Audren N., Descarpentries T., Fabre F., Legrand A., Druot E., Orliaguet G., Sabau L., Uhrig L., de la Briere F., Jonckheer K., Mission J.-P., Scordo L., Couchepin C., Dadure C., De la Arena P., Hertz L., Pirat P., Sola C., Bellon M., Dahmani S., Julien-Marsollier F., Michelet D., Depret-Donatien V., Lesage A., Laschat M., Wappler F., Becke K., Brunner L., Oppenrieder K., Badelt G., Hochmuth K., Koller B., Reil A., Richter S., Fischer T., Diers A., Schorer C., Weyland A., Cohausz R., Kretz F.-J., Loffler M., Wilbs M., Hoehne C., Ulrici J., Goeters C., Flinspach A., Klages M., Lindau S., Messroghli L., Zacharowski K., Eisner C., Mueller T., Richter D., Schafer M., Weigand M., Weiterer S., Ochsenreiter M., Scholer M., Terboven T., Eggemann I., Haussmann S., Leister N., Menzel C., Trieschmann U., Yucetepe S., Keilig S., Kranke P., Jelting Y., Baehner T., Ellerkmann R., Ghamari S., Neumann C., Sohle M., Chloropoulou P., Ntritsou V., Papagiannopoulou P., Garini E., Karafotia A., Mammi P., Bali E., Iordanidou D., Malisiova A., Polyzoi A., Tsiotou A., Sapi E., Szekely E., Kosik N., Maraczi V., Schnur J., Csillag J., Gal J., Gobl G., Hauser B., Petroczy A., Tovishazi G., Blain S., Gallagher S., Harte S., Jackson M., Meehan E., Nawoor Z., O'Hare B., Ross M., Lerro D., Astuto M., Grasso C., Scalisi R., Frasacco G., Lenares E., Leone R., Grazzini M., Minardi C., Zadra N., Cinnella G., Cotoia A., Galante D., De Lorenzo B., Kuppers B., Bottazzi G., Caramelli F., Mondardini M.C., Rossetti E., Picardo S., Vittori A., Camporesi A., Wolfler A., Calderini E., Colantonio L.B., Finamore S.A., Porro G.A., Bonfiglio R., Kotzeva S., Mameli L., Mattioli G., Micalizzi C., Montaguti A., Pistorio A., Zanaboni C., Guddo A., Neba G.R., Favarato M., Locatelli B.G., Maffioletti M., Sonzogni V., Garra R., Sammartino M., Sbaraglia F., Cortegiani A., Moscarelli A., Attanasi E., Tesoro S., Agapiti C., Pinzoni F., Vezzoli C., Bilotta F., Barzdina A., Straume Z., Zundane A., Lukosiene L., Maraulaite I., Razlevice I., Schmitz B., Mifsud S., Aehling C., Allison C., De Boer R., Emal D., Stevens M., Buitenhuis M., de Graaff J., De Liefde I., Machotta A., Scoones G., Staals L., Tomas J., Van der Knijff-van Dortmont A., Veldhuizen M., Alders D., Buhre W., Schafrat E., Schreiber J., Vermeulen P.M., Hendriks M., Lako S., Voet-Lindner M., Pieters B., Scheffer G.-J., Tielens L., Absalom A.R., Bergsma M., De Ruiter J., Meier S., Volkers M., Zweers T., Beukers A.M., Boer C., Dertinger J., Numan S., Van Zaane B., Boerke W.B., Ekiz N., Stensrud K., Drage I.M., Isern E.R., Bartkowska-Sniatkowska A., Grzeskowiak M., Juzwa-Sobieraj M., Rosada-Kurasinska J., Baranowski A., Jakubowska K., Lewandowska D., Mierzewska-Schmidt M., Sawicki P., Urban-Lechowicz M., Przemyslaw P., Zielinska M., Leal T., Soares M., Pina P., Pinho S., Patuleia M.D., Esteves C.C., Salgado H., Santos M.J., Badeti R., Cindea I., Oana L., Gurita A., Ilie L., Mocioiu G., Tabacaru R., Trante I., Munteanu V., Morariu M., Nyiri E., Budic I., Marjanovic V., Draskovic B., Pandurov M., Ilic J., Mandras A., Rados Z., Stankovic N., Suica M., Vasiljevic S., Knezevic M., Milojevic I., Petrov I., Puric Racic S., Simic D., Simic I., Stevic M., Vulicevic I., Cabanova B., Hanula M., Berger J., Janjatovic D., Pirtovsek Stupnik S., Mendez D., Pino G., Rubio P., Izquierdo A., Lopez S., Gonzalez Serrano C., Cebrian J., Peleteiro A., Del Rey de Diego P., Martinez Garcia E., Tormo de las Heras C., Troncoso Montero P., Arbona C., Artes D., Chamizo A., Serrano S., Suarez Comas M., Escriba F., Auli C., Perez Pardo O., Sierra Biddle N., Suarez Castano C., Villalobos Rico M.I., Manrique Munoz S., Garcia Martinez I., Montferrer Estruch N., Vilardell Ortiz E., Poves-Alvarez R., Kohn I., Lindestam U., Reinhard J., Castellheim A., Sandstrom K., Bengt S., Dorenberg R., Frykholm P., Garcia M., Kvarnstrom A., Ponten E., Bruelisauer T., Erdoes G., Kaiser H., Marchon M., Seiler S., Bogli Y., Dolci M., Marcucci C., Pichon I., Vutskits L., Casutt M., Holzle M., Hurni T., Johr M., Malar A.-U., Mauch J., Erb T., Oeinck K., Akin M., Keskin G., Senayli Y., Kaya G., Kendigelen P., Tutuncu A.C., Hatipoglu Z., Ozcengiz D., Erdost H.A., Ocmen E., Olguner C., Ayanoglu H., Dincer P.C., Umuroglu T., Azizoglu M., Birbicer H., Doruk N., Sagun A., Baris S., Dmytriiev D., Kuchi S., Masip N., Brooks P., Hare A., Ahmad N., Casey M., De Silva S., Dobby N., Krishnan P., Sogbodjor L.A., Walker E., Walker S., King S., Nicholson K., Quinney M., Stevens P., Blevin A., Giombini M., Goonasekera C., Adil S., Bew S., Bodlani C., Gilpin D., Jinks S., Malarkkan N., Miskovic A., Pad R., Wolfe Barry J., Abbott J., Armstrong J., Cooper N., Crate L., Emery J., James K., King H., Martin P., Scalia Catenacci S., Bomont R., Smith P., Mele S., Verzelloni A., Dix P., Bell G., Gordeva E., McKee L., Ngan E., Scheffczik J., Tan L.-E., Worrall M., Cassar C., Goddard K., Barlow V., Oshan V., Shah K., Bell S., Daniels L., Gandhi M., Pachter D., Perry C., Robertson A., Scott C., Waring L., Barnes D., Childs S., Norman J., Sunderland R., Julia D., Prisca F., Pierre H., Sarah H., Brigitte L., Benoit P., Katalin V., Anesthesiology, APH - Quality of Care, and Amsterdam Neuroscience - Neuroinfection & -inflammation

Subjects
Anesthesiology and Pain Medicine, business.industry, medicine.medical_treatment, Anesthesia, Tracheal intubation, Neonates, anaesthesia, medicine, MEDLINE, Observational study, Audit, business
Abstract

The authors regret that errors were present in the above article. On page 1174, in the second paragraph of the Statistical methods section, the second sentence should read as follows: The incidence of difficult intubation was determined including those whose tracheas were already intubated and is reported as a percentage with a 95% exact binomial CI. On page 1175, in the third paragraph of the Statistical methods section ‘mean standardised difference (MSD)’ should read ‘standardised mean difference (SMD)’ The authors would like to apologise for any inconvenience caused.

Published
2021
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6. Correction: ESPNIC clinical practice guidelines: intravenous maintenance fluid therapy in acute and critically ill children- a systematic review and meta-analysis.

Author

Brossier DW, Tume LN, Briant AR, Jotterand Chaparro C, Moullet C, Rooze S, Verbruggen SCAT, Marino LV, Alsohime F, Beldjilali S, Chiusolo F, Costa L, Didier C, Ilia S, Joram NL, Kneyber MCJ, Kühlwein E, Lopez J, López-Herce J, Mayberry HF, Mehmeti F, Mierzewska-Schmidt M, Miñambres Rodríguez M, Morice C, Pappachan JV, Porcheret F, Reis Boto L, Schlapbach LJ, Tekguc H, Tziouvas K, Parienti JJ, Goyer I, and Valla FV

Published
2023
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7. A new method of ventilation inhomogeneity assessment based on a simulation study using clinical data on congenital diaphragmatic hernia cases.

Author

Stankiewicz B, Mierzewska-Schmidt M, Pałko KJ, Baranowski A, Darowski M, and Kozarski M

Subjects
Humans, Infant, Newborn, Infant, Child, Retrospective Studies, Lung, Respiration, Artificial methods, Respiration, Hernias, Diaphragmatic, Congenital therapy
Abstract

Congenital Diaphragmatic Hernia (CDH) is a diaphragm defect associated with lung hypoplasia and ventilation inhomogeneity (VI). The affected neonates are usually born with respiratory failure and require mechanical ventilation after birth. However, significant interindividual VI differences make ventilation difficult. So far, there are no clinical methods of VI assessment that could be applied to optimize ventilation at the bedside. A new VI index is a ratio of time constants T 1 /T 2 of gas flows in both lungs. Pressure-controlled ventilation simulations were conducted using an infant hybrid (numerical-physical) respiratory simulator connected to a ventilator. The parameters of the respiratory system model and ventilator settings were based on retrospective clinical data taken from three neonates (2, 2.6, 3.6 kg) treated in the Paediatric Teaching Clinical Hospital of the Medical University of Warsaw. We searched for relationships between respiratory system impedance (Z) and ventilation parameters: work of breathing (WOB), peak inspiratory pressure (PIP), and mean airway pressure (MAP). The study showed the increased VI described by the T 1 /T 2 index value highly correlated with elevated Z, WOB, PIP and MAP (0.8-0.9, the Spearman correlation coefficients were significant at P < 0.001). It indicates that the T 1 /T 2 index may help to improve the ventilation therapy of CDH neonates., (© 2022. The Author(s).)

Published
2022
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8. ESPNIC clinical practice guidelines: intravenous maintenance fluid therapy in acute and critically ill children- a systematic review and meta-analysis.

Author

Brossier DW, Tume LN, Briant AR, Jotterand Chaparro C, Moullet C, Rooze S, Verbruggen SCAT, Marino LV, Alsohime F, Beldjilali S, Chiusolo F, Costa L, Didier C, Ilia S, Joram NL, Kneyber MCJ, Kühlwein E, Lopez J, López-Herce J, Mayberry HF, Mehmeti F, Mierzewska-Schmidt M, Miñambres Rodríguez M, Morice C, Pappachan JV, Porcheret F, Reis Boto L, Schlapbach LJ, Tekguc H, Tziouvas K, Parienti JJ, Goyer I, and Valla FV

Subjects
Infant, Newborn, Child, Humans, Isotonic Solutions, Infusions, Intravenous, Glucose, Critical Illness therapy, Fluid Therapy methods
Abstract

Purpose: Intravenous maintenance fluid therapy (IV-MFT) prescribing in acute and critically ill children is very variable among pediatric health care professionals. In order to provide up to date IV-MFT guidelines, the European Society of Pediatric and Neonatal Intensive Care (ESPNIC) undertook a systematic review to answer the following five main questions about IV-MFT: (i) the indications for use (ii) the role of isotonic fluid (iii) the role of balanced solutions (iv) IV fluid composition (calcium, magnesium, potassium, glucose and micronutrients) and v) and the optimal amount of fluid., Methods: A multidisciplinary expert group within ESPNIC conducted this systematic review using the Scottish Intercollegiate Guidelines Network (SIGN) grading method. Five databases were searched for studies that answered these questions, in acute and critically children (from 37 weeks gestational age to 18 years), published until November 2020. The quality of evidence and risk of bias were assessed, and meta-analyses were undertaken when appropriate. A series of recommendations was derived and voted on by the expert group to achieve consensus through two voting rounds., Results: 56 papers met the inclusion criteria, and 16 recommendations were produced. Outcome reporting was inconsistent among studies. Recommendations generated were based on a heterogeneous level of evidence, but consensus within the expert group was high. "Strong consensus" was reached for 11/16 (69%) and "consensus" for 5/16 (31%) of the recommendations., Conclusions: Key recommendations are to use isotonic balanced solutions providing glucose to restrict IV-MFT infusion volumes in most hospitalized children and to regularly monitor plasma electrolyte levels, serum glucose and fluid balance., (© 2022. The Author(s).)

Published
2022
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9. Authors' response to Dr Finsterer's comment "Exclude differentials before diagnosing SARS-CoV-2-associated acute hemorrhagic necrotizing encephalitis" (THEIJID-D-22-00008).

Author

Mierzewska-Schmidt M, Baranowski A, Szymanska K, Ciaston M, Kuchar E, Ploski R, Kosinska J, and Pagowska-Klimek I

Subjects
Humans, SARS-CoV-2, COVID-19 diagnosis, Encephalitis, Viral
Abstract

Competing Interests: Declaration of Competing Interest The authors declare no conflict of interest.

Published
2022
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10. The case of fatal acute hemorrhagic necrotizing encephalitis in a two-month-old boy with Covid-19.

Author

Mierzewska-Schmidt M, Baranowski A, Szymanska K, Ciaston M, Kuchar E, Ploski R, Kosinska J, and Pagowska-Klimek I

Subjects
Child, Hemorrhage, Humans, Infant, Male, RNA, Viral, SARS-CoV-2, COVID-19 complications, Encephalitis, Viral diagnosis
Abstract

SARS-CoV-2 infection in healthy children is usually benign. However, severe, life-threatening cases have previously been reported, notably in infants. We must be aware that data on the natural history of COVID-19 are still full of gaps, especially as far as the pediatric population is concerned. Therefore, it is important to describe rare manifestations of SARS-CoV-2 acute infection in children. Here we present the case of acute hemorrhagic necrotizing encephalitis (AHNE) in a previously healthy, 2-month-old male infant with SARS-CoV-2 infection. After 2 days of fever with signs of respiratory tract infection, neurological manifestations appeared: irritability, nystagmus, agitation then apathy. As a consequence of apnea, he required emergent intubation and was transferred to our PICU. Brain MRI revealed diffuse areas of oedema associated with numerous symmetrical changes with punctate hemorrhages in basal ganglia, thalami, brainstem, and cerebral gray matter. CSF was clear with pleocytosis 484 cells/µl, elevated lactic acid and protein. Despite broad microbiological testing, only SARS-CoV2 was detected in PCR nasal swab. Therefore, acute hemorrhagic necrotizing encephalitis (AHNE) as a result of COVID-19 was the most probable diagnosis. The outcome was unfavorable - brain death was confirmed, life support was withdrawn., (Copyright © 2021 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Published
2022
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11. Guidelines regarding ineffective maintenance of organ functions (futile therapy) in paediatric intensive care units.

Author

Bartkowska-Śniatkowska A, Byrska-Maciejasz E, Cettler M, Damps M, Jarosz K, Mierzewska-Schmidt M, Migdał M, Ożóg-Zabolska I, Piotrowski A, Rawicz M, Świder M, Tałałaj M, and Zielińska M

Subjects
Child, Consensus, Female, Humans, Infant, Newborn, Intensive Care Units, Intensive Care Units, Pediatric, Male, Medical Futility, Anesthesiology, Critical Care
Abstract

In Poland, guidelines for the management of ineffective treatment of children in neonatal and paediatric departments developed by the Polish Neonatal Society and the Polish Paediatric Society, have been published. The specific problems of futile therapy in paediatric anaesthesiology and intensive care units should be defined and solved separately. For this purpose, the guidelines presented below were prepared. They present the principles for managing children for whom therapeutic options available in paedia-tric anaesthesiology and intensive care units have been exhausted and ineffectiveness of maintaining organ functions, i.e. futile therapy, has been suspected. The decision to withdraw futile therapy of a child is undoubtedly one of the most difficult for both doctors and parents, and for this reason, it should be made collectively, respecting the dignity of the child and his/her parents or legal representatives, and continuing the management aimed at relieving the child's pain and suffering, as well as minimising anxiety and fear. Due to the small amount of reliable evidence-based data, the guidelines constitute the consensus of the Group of Experts and are dedicated to minor patients treated in paediatric anaesthesiology and intensive care units.

Published
2021
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12. Postnatal Evaluation of Congenital Chest Pathologies Using a Low-Dose Computed Tomography (CT) Protocol - a Pictorial Review.

Author

Roik D, Barczuk M, Burzyńska Z, Biejat A, Żerańska M, Mierzewska-Schmidt M, Floriańczyk T, and Brzewski M

Abstract

Computed tomography with its excellent spatial and temporal resolution remains a valuable diagnostic modality in pediatrics. On the other hand an increasing attention has been placed on the radiation risks associated with CT imaging, especially in children. In recent years, many advances in CT hardware and software, for example, automatic exposure control tools and iterative reconstruction techniques, have allowed for a reduction of applied radiation doses while maintaining image quality. The purpose of this paper is to present our protocol for chest CT imaging in the youngest age group, together with a pictorial review of congenital pathologies of the chest, and to emphasize factors that optimize postnatal CT imaging in infants. In our opinion, modern CT imaging with the use of dose reduction techniques and iterative reconstructions allows for a proper visualization of chest pathologies in small children, which has no influence on observer performance. The presented review of low-dose diagnostic images of a wide spectrum of congenital pathologies may serve as an example of routine utilization of the current concepts in pediatric CT optimization.

Published
2017
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13. Alexander disease - astrogliopathy considered as leukodystrophy - experience of an institution.

Author

Mierzewska H, Mierzewska-Schmidt M, Salomons GS, Dudzińska M, and Szczepanik E

Subjects
Alexander Disease classification, Child, Child, Preschool, DNA Mutational Analysis, Female, Humans, Magnetic Resonance Imaging, Male, Poland, Alexander Disease genetics, Alexander Disease pathology, Glial Fibrillary Acidic Protein genetics, Medulla Oblongata pathology
Abstract

Alexander Disease (ALXDRD) is an autosomal dominant leukodystrophy caused by mutation in one allele of GFAP gene, encoding glial fibrillary acidic protein (GFAP). Most cases occur due to de novo. There are three clinical subtypes of ALXDRD: infantile, juvenile and adult form, but congenital form is also outlined. The disease's spectrum comprises of macrocephaly, progressive pyramidal signs, and seizures in congenital and infantile subtypes. Neuropathologically are enormous number of Rosenthal fibers (RF) mainly around vessels, in subependymal and subpial regions are found. The diagnosis is based on the typical findings on MRI: diffuse white mater lesions with frontal regions preponderance and possibly on the detection of the gene mutation. Here we present six Polish children affected of Alexander disease with congenital (1), infantile (4) and juvenile (1) form. Five of them were previously misdiagnosed as cerebral palsy or unspecific developmental delay; two patients had MRI because of another suspicion, before specific diagnosis was established. Molecular analysis performed in four cases confirmed mutations of GFAP gene; all mutation were de novo. The role of astroglia in brain is shortly reviewed.

Published
2016

16. Neurogenic stunned myocardium - do we consider this diagnosis in patients with acute central nervous system injury and acute heart failure?

Author

Mierzewska-Schmidt M and Gawecka A

Subjects
Acute Disease, Humans, Myocardial Stunning therapy, Brain Injuries complications, Heart Failure complications, Myocardial Stunning etiology
Abstract

Neurogenic stunned myocardium (NSM) is defined as myocardial injury and dysfunction of a sudden onset, occurring after various types of acute brain injury as a result of an imbalance in the autonomic nervous system. The typical spectrum of clinically observed abnormalities includes acute left ventricular failure, not uncommonly progressing to cardiogenic shock with hypotension that requires inotropic agents, pulmonary oedema and various arrhythmias. Commonly-seen electrocardiographic changes include: prolonged QT interval, ST segment changes, T-wave inversion, a new Q-wave or U-wave. Echocardiography shows both an impaired both systolic and diastolic function of the left ventricle. Biochemical markers of NSM comprise metabolic acidosis and increased cardiac enzymes and markers: creatine kinase (CK), and CK-MB, troponin I and B-type natriuretic peptide. The main cause of NSM is myocardial injury induced by local catecholamine release from nerve endings within the myocardium. Recently, a theory has been proposed to classify NSM as one of the stress-related cardiomyopathies, together with Takotsubo cardiomyopathy, acute left ventricular failure in the critically ill, cardiomyopathy associated with pheochromacytoma and exogenous catecholamine administration. The occurrence of NSM increases the risk of life-threatening complications, death, and worsens neurologic outcome. As far as we know, treatment should generally focus on the underlying neurologic process in order to maximize neurologic recovery. Improvement in neurologic pathology leads to rapid improvement in cardiac function and its full recovery, as NSM is a fully reversible condition if the patient survives. Awareness of the existence of NSM and a deeper knowledge of its etiopathology may reduce diagnostic errors, optimise its treatment.

Published
2015
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17. Intraoperative fluid management in children - a comparison of three fluid regimens.

Author

Mierzewska-Schmidt M

Subjects
Blood Glucose analysis, Child, Child, Preschool, Female, Humans, Hyperglycemia etiology, Hyponatremia etiology, Intraoperative Period, Male, Prospective Studies, Fluid Therapy methods
Abstract

Background: Fluid therapy is essential for safe perioperative management. Numerous reports of serious complications, including brain damage and death of children, as a result of inappropriate fluid management, have been published. The aim of this study was to assess the effects of intraoperative fluids on serum glucose and electrolytes concentrations as well as serum osmolality., Methods: 91 children, ASA I and II, undergoing elective ENT surgery were enrolled to this prospective, randomized, open-label study. They were randomly assigned to receive: group G5W: 5% glucose in water solution, group GNaCl: 3.33% glucose in 0.3% NaCl, and group RA: Ringer's acetate. Serum glucose, sodium, potassium, phosphate concentrations and serum osmolality were analysed before induction of anaesthesia, immediately after completion of surgery and 60 min later., Results: Postoperative hyperglycaemia was observed in 94% of children in group G5W and in 37% of group GNaCl. In all the groups glucose concentration increased significantly after surgery. Postoperative hyponatraemia occurred in 36% of patients in the group G5W, and in 3.7% in the group GNaCl. Neither hyperglycaemia nor hyponatremia occurred in the group RA. Postoperative osmolality decreased significantly in groups G5W and GNaCl and remained unchanged in the group RA., Conclusions: Ringer's acetate did not cause significant changes in glucose and electrolyte concentrations, so it seems to be the safest for intraoperative use in children undergoing elective surgery. Hypotonic fluids may cause hyperglycaemia and hyponatraemia so they should be avoided intraoperatively.

Published
2015
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18. Tolerance of, and metabolic effects of, preoperative oral carbohydrate administration in children - a preliminary report.

Author

Gawecka A and Mierzewska-Schmidt M

Subjects
Administration, Oral, Adolescent, Blood Glucose metabolism, Carbohydrates adverse effects, Carbohydrates pharmacology, Child, Child, Preschool, Fasting, Female, Humans, Male, Postoperative Complications epidemiology, Preoperative Care methods, Prospective Studies, Anesthesia methods, Carbohydrates administration & dosage, Insulin metabolism, Insulin Resistance
Abstract

Background: The need for long preoperative fasting has been questioned. Recent data shows that intake of an oral carbohydrate-containing clear fluid prior to anaesthesia is safe and may have a positive impact on recovery and metabolic status and could improve glucose tolerance. Such solutions are routinely used in adults but not children. The aim of this study was to evaluate the safety, tolerance and influence of oral carbohydrate on selected metabolic parameters in children., Methods: With ethics committee approval and parental informed consent, 20 children, aged 4-17 years, ASA status I or II, scheduled for abdominal or thoracic surgery were randomised either to Group 1 - receiving a 12.6% carbohydrate-containing drink (10 mL kg(-1) the evening before surgery and two hours before anaesthesia), or the control Group 2 - fasting. Serum glucose and insulin concentration were measured four times: before and after anaesthesia, in the evening after surgery, and the following morning. IGF-1 concentration was measured once, before surgery. Insulin resistance was assessed by the HOMA-IR equation., Results: Oral carbohydrate solution was well tolerated and no adverse events were noted. Glucose concentrations were within the normal range in both groups. Insulin concentration did not show significant differences between groups, however before surgery it tended to be lower in Group 1. Insulin resistance after surgery was significantly higher in Group 2 (2.0 vs. 0.62, P = 0.03), also the increase in insulin resistance after operation was significant only in the control group (P = 0.03)., Conclusion: Oral carbohydrates are safe, well tolerated and do not cause any perioperative adverse events. They seem to improve postoperative metabolism by decreasing insulin resistance.

Published
2014
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19. Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.

Author

Jędrzejowska M, Madej-Pilarczyk A, Fidziańska A, Mierzewska H, Pronicka E, Obersztyn E, Gos M, Pronicki M, Kmieć T, Migdał M, Mierzewska-Schmidt M, Walczak-Wojtkowska I, Konopka E, and Hausmanowa-Petrusewicz I

Subjects
Cell Nucleus pathology, Female, Humans, Infant, Newborn, Male, Muscle, Skeletal pathology, Pedigree, Polymerase Chain Reaction, Schwann Cells pathology, DNA-Binding Proteins genetics, Muscular Atrophy, Spinal genetics, Muscular Atrophy, Spinal pathology, Mutation, Respiratory Distress Syndrome, Newborn genetics, Respiratory Distress Syndrome, Newborn pathology, Transcription Factors genetics
Abstract

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a very rare autosomal recessive form of spinal muscular atrophy manifested in low birth weight, diaphragmatic palsy and distal muscular atrophy. Caused by a mutation in the IGHMBP2 gene, the disease is addressed here by reference to five Polish patients in which SMARD1 has been confirmed genetically. All presented a severe form of the disease and had evident symptoms during the second month of life; with four displaying weak cries, feeding difficulties and hypotonia from birth. Two were afflicted by severe dysfunction of the autonomic nervous system. Ultrastructural analysis of a muscle biopsy revealed progressive degeneration within the nuclei of the muscle cells and Schwann cells. Neuromuscular junctions were also defective. It proved possible to identify in our patients 6 novel IGHMBP2 mutations: three missense (c.595G>C, c.1682T>C and c.1794C>A), two nonsense (c.94C>T and c.1336C>T) and one in-frame deletion (c.1615&#95;1623del). One nonsense mutation (c.429C>T) that had been described previously was also identified. Observation of our patients makes it clear that clinical picture is still the most important factor suggesting diagnosis of SMARD1, though further investigations concerning some of the symptoms are required. As the IGHMBP2 gene is characterized by significant heterogeneity, genetic counseling of affected families is rendered more complex. IGHMBP2 protein deficiency can lead to the degeneration of nuclei, in both muscle and Schwann cells., (Copyright © 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

Published
2014
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