Perinatalna opieka paliatywna realizowana w oddziale położniczym i neonatologicznym we współpracy z hospicjum dla dzieci - doświadczenia własne.

Autor: Jalowska A; Katedra i Klinika Neonatologii, Uniwersytet Medyczny we Wrocławiu, Wrocławiu Polska., Krzeszowiak J; Katedra Pediatrii, Zakład Propedeutyki Pediatrii i Chorób Rzadkich, Uniwersytet Medyczny we Wrocławiu, Wrocławiu Polska., Stembalska A; Katedra Genetyki, Uniwersytet Medyczny we Wrocławiu, Wrocławiu Polska., Szmyd K; Stowarzyszenie Hospicjum dla Dzieci Dolnego Śląska ' Formuła Dobra'', Wrocław, Polska., Zimmer M; Katedra i Klinika Ginekologii i Położnictwa, Uniwersytet Medyczny we Wrocławiu, Wrocławiu Polska., Jagielska G; Oddział Ginekologii i Położnictwa, Powiatowy Zespół Szpitali w Oleśnicy, Oleśnicy Polska., Raś M; Oddział Kardiologii Dziecięcej, Wojewódzki Szpital Specjalistyczny we Wrocławiu, Wrocławiu Polska., Pasławska A; Stowarzyszenie Hospicjum dla Dzieci Dolnego Śląska ' Formuła Dobra'', Wrocław, Polska., Szafrańska A; Katedra i Klinika Neonatologii, Uniwersytet Medyczny we Wrocławiu, Wrocławiu Polska., Paluszyńska D; Katedra i Klinika Neonatologii, Uniwersytet Medyczny we Wrocławiu, Wrocławiu Polska., Fuchs T; Katedra i Klinika Ginekologii i Położnictwa, Uniwersytet Medyczny we Wrocławiu, Wrocławiu Polska., Pesz K; Katedra Genetyki, Uniwersytet Medyczny we Wrocławiu, Wrocławiu Polska., Sąsiadek M; Katedra Genetyki, Uniwersytet Medyczny we Wrocławiu, Wrocławiu Polska., Królak-Olejnik B; Katedra i Klinika Neonatologii, Uniwersytet Medyczny we Wrocławiu, Wrocławiu Polska., Śmigiel R; Katedra Pediatrii, Zakład Propedeutyki Pediatrii i Chorób Rzadkich, Uniwersytet Medyczny we Wrocławiu, Wrocławiu Polska.

Publikováno v: Journal of mother and child [J Mother Child] 2021 Jan 29; Vol. 23 (4), pp. 253-262. Date of Electronic Publication: 2021 Jan 29.

Severe Phenotype of De Barsy Syndrome in Two Siblings with Novel Mutations in the ALDH18A1 Gene

Autor: Agnieszka Pollak, Joanna Kosińska, Malgorzata Sasiadek, Grażyna Kostrzewa, Polawski T, Szmyd K, Robert Smigiel, Rafał Płoski, Kusmierska K

Publikováno v: Journal of Clinical & Medical Genomics.

De Barsy syndrome is a rare autosomal recessive genetic disorder characterized by growth retardation, intellectual disability, a prematurely-aged appearance (progeroid features) and loose skin (cutis laxa) as well as eye abnormalities and others. Som

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ca123801cc2c67b6abc08d1897ce4e18
https://doi.org/10.4172/2472-128x.1000145

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit.

Autor: Śmigiel R; Department of Pediatrics, Division Propaedeutic of Pediatrics and Rare Disorders, Wroclaw Medical University, 50-368 Wroclaw, Poland., Biela M; Department of Pediatrics, Division Propaedeutic of Pediatrics and Rare Disorders, Wroclaw Medical University, 50-368 Wroclaw, Poland., Szmyd K; Lower Silesia Children's Hospice, 51-163 Wroclaw, Poland., Błoch M; Department of Pediatrics, Division Propaedeutic of Pediatrics and Rare Disorders, Wroclaw Medical University, 50-368 Wroclaw, Poland., Szmida E; Department of Genetics, Wroclaw Medical University, 50-368 Wroclaw, Poland., Skiba P; Department of Genetics, Wroclaw Medical University, 50-368 Wroclaw, Poland., Walczak A; Department of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland., Gasperowicz P; Department of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland., Kosińska J; Department of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland., Rydzanicz M; Department of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland., Stawiński P; Department of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland., Biernacka A; Department of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland.; Postgraduate School of Molecular Medicine, Warsaw Medical University, 02-091 Warsaw, Poland., Zielińska M; Department of Anesthesiology and Intensive Care, Wroclaw Medical University, 50-556 Wroclaw, Poland., Gołębiowski W; Department of Anesthesiology and Intensive Care, Wroclaw Medical University, 50-556 Wroclaw, Poland., Jalowska A; Department of Neonatology, Wroclaw Medical University, 50-556 Wroclaw, Poland., Ohia G; Department of Neonatology, Provincial Specialist Hospital, 51-124 Wroclaw, Poland., Głowska B; Department of Anesthesiology and Intensive Care Unit for Newborns and Children, Provincial Specialist Hospital, 51-149 Wroclaw, Poland., Walas W; Pediatric and Neonatal Intensive Care Unit, University Hospital, 45-401 Opole, Poland., Królak-Olejnik B; Department of Neonatology, Wroclaw Medical University, 50-556 Wroclaw, Poland., Krajewski P; Department of Forensic Medicine, Warsaw Medical University, 02-007 Warsaw, Poland., Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Pediatrics, Institute of Mother and Child, 01-211 Warsaw, Poland., Sąsiadek MM; Department of Genetics, Wroclaw Medical University, 50-368 Wroclaw, Poland., Płoski R; Department of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland.

Publikováno v: Journal of clinical medicine [J Clin Med] 2020 Jul 13; Vol. 9 (7). Date of Electronic Publication: 2020 Jul 13.

Evaluation of antidepressant-like and anxiolytic-like activity of purinedione-derivatives with affinity for adenosine A 2A receptors in mice.

Autor: Dziubina A; Department of Pharmacodynamics, Jagiellonian University Medical College, Kraków, Poland. Electronic address: anna.dziubina@uj.edu.pl., Szmyd K; Department of Pharmacodynamics, Jagiellonian University Medical College, Kraków, Poland., Zygmunt M; Department of Pharmacological Screening, Chair of Pharmacodynamics, Jagiellonian University Medical College, Kraków, Poland., Sapa J; Department of Pharmacological Screening, Chair of Pharmacodynamics, Jagiellonian University Medical College, Kraków, Poland., Dudek M; Department of Pharmacodynamics, Jagiellonian University Medical College, Kraków, Poland., Filipek B; Department of Pharmacodynamics, Jagiellonian University Medical College, Kraków, Poland., Drabczyńska A; Department of Technology and Biotechnology of Drugs, Faculty of Pharmacy, Jagiellonian University Medical College, Kraków, Poland., Załuski M; Department of Technology and Biotechnology of Drugs, Faculty of Pharmacy, Jagiellonian University Medical College, Kraków, Poland., Pytka K; Department of Pharmacodynamics, Jagiellonian University Medical College, Kraków, Poland., Kieć-Kononowicz K; Department of Technology and Biotechnology of Drugs, Faculty of Pharmacy, Jagiellonian University Medical College, Kraków, Poland.

Publikováno v: Pharmacological reports : PR [Pharmacol Rep] 2016 Dec; Vol. 68 (6), pp. 1285-1292. Date of Electronic Publication: 2016 Jul 25.

Clinical heterogeneity of polish patients with KAT6B–related disorder.

Autor: Magdalena, Klaniewska¹ (AUTHOR) magdazdzie@gmail.com, Anna, Bolanowska‐Tyszko² (AUTHOR), Anna, Latos‐Bielenska³ (AUTHOR), Aleksandra, Jezela‐Stanek⁴ (AUTHOR), Krzysztof, Szczaluba⁵ (AUTHOR), Malgorzata, Krajewska‐Walasek^4,6,7 (AUTHOR), Elzbieta, Ciara⁶ (AUTHOR), Magdalena, Pelc⁶ (AUTHOR), Dorota, Jurkiewicz⁶ (AUTHOR), Piotr, Stawinski⁵ (AUTHOR), Agnieszka, Zubkiewicz‐Kucharska⁸ (AUTHOR), Małgorzata, Rydzanicz⁵ (AUTHOR), Rafal, Ploski⁵ (AUTHOR), Robert, Smigiel⁸ (AUTHOR) robert.smigiel@umw.edu.pl

Publikováno v: Molecular Genetics & Genomic Medicine. Dec2023, Vol. 11 Issue 12, p1-11. 11p.