Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Magdalena Machnikowska-Sokolowska"'
Autor:
Patrycja Ochman-Pasierbek, Przemysław Olczyk, Justyna Paprocka, Magdalena Machnikowska-Sokołowska, Adrianna Doman
Publikováno v:
Annales Academiae Medicae Silesiensis, Vol 78, Pp 118-126 (2024)
Aicardi syndrome (AS) is a rare congenital disorder with neurodevelopmental symptoms that in the significant majority of cases occurs in females. It is typically characterized by a classic triad of symptoms: epileptic spasms, agenesis of the corpus c
Externí odkaz:
https://doaj.org/article/b36d210668fd4d49aced87acd87efa83
Autor:
Jakub Nalepa, Szymon Adamski, Krzysztof Kotowski, Sylwia Chelstowska, Magdalena Machnikowska-Sokolowska, Oskar Bozek, Agata Wisz, Elzbieta Jurkiewicz
Publikováno v:
Computers in Biology and Medicine. 142:105237
Optic pathway gliomas are low-grade neoplastic lesions that account for approximately 3-5% of brain tumors in children. Assessing tumor burden from magnetic resonance imaging (MRI) plays a central role in its efficient management, yet it is a challen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe93447faef4900d077bc0eb6c1f4f0e
https://doi.org/10.1016/j.compbiomed.2022.105237
https://doi.org/10.1016/j.compbiomed.2022.105237
Autor:
Aleksandra Kiermasz, Magdalena Zapała, Bartosz Zwiernik, Angelika Stręk-Cholewińska, Magdalena Machnikowska-Sokołowska, Agnieszka Mizia-Malarz
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundPosterior reversible encephalopathy syndrome (PRES) diagnosis relies on clinical and radiological characteristics. Clinical manifestations include focal neurologic deficits, hemiparesis, seizures with symptoms of intracranial hypertension,
Externí odkaz:
https://doaj.org/article/804675cf11c4497e85424bf46ce4836e
Autor:
Magdalena Machnikowska-Sokołowska, Aleksandra Myszczuk, Emilia Wieszała, Dominika Wieja-Błach, Ewa Jamroz, Justyna Paprocka
Publikováno v:
Metabolites, Vol 13, Iss 2, p 209 (2023)
Mucopolysaccharidosis 1 (MPS 1) is a group of rare lysosomal genetic disorders resulting from the accumulation of undegraded glycosaminoglycans (GAGs) leading to multiorgan damage. Neurological symptoms vary from mild to severe. Neuroimaging—mainly
Externí odkaz:
https://doaj.org/article/c65ef6253a9e422f9e3399654a20dc08
Autor:
Magdalena Machnikowska-Sokołowska, Piotr Fabrowicz, Jacek Pilch, Weronika Roesler, Mikołaj Kuźniak, Katarzyna Gruszczyńska, Justyna Paprocka
Publikováno v:
Brain Sciences, Vol 12, Iss 12, p 1641 (2022)
Encephalocraniocutaneous lipomatosis (ECCL; Haberland syndrome, #613001) is an extremely rare congenital disorder that is manifested by the involvement of the skin, eyes and central nervous system (CNS). We report two cases of children with ECCL diag
Externí odkaz:
https://doaj.org/article/3aec1fd9efb4434496680233f19cb301
Autor:
Małgorzata Rodak, Mariola Jonderko, Patrycja Rozwadowska, Magdalena Machnikowska-Sokołowska, Justyna Paprocka
Publikováno v:
Children, Vol 9, Iss 12, p 1806 (2022)
CDKL5 deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the X-linked cyclin-dependent kinase 5 (CDKL5) gene. This rare disorder occurs more frequently in females than in males. The incidence is estimated to
Externí odkaz:
https://doaj.org/article/d6880101ebcb438fb34d5c9306706e59
Autor:
Sabina Wiecek, Alicja Wojtyniak, Barbara Pindur, Magdalena Machnikowska-Sokołowska, Katarzyna Gruszczyńska, Urszula Grzybowska-Chlebowczyk
Publikováno v:
Medicina, Vol 57, Iss 7, p 663 (2021)
Background and Objectives: Primary sclerosing cholangitis (PSC) is a rare cholestatic disease of the liver of unknown etiology, severe course and poor prognosis. PSC most often co-occurs with inflammatory bowel diseases (IBD), especially with ulcerat
Externí odkaz:
https://doaj.org/article/eda49535980a41e1a879671e618979e1
Autor:
Ilona Kopyta, Beata Sarecka-Hujar, Dorota Raczkiewicz, Katarzyna Gruszczyńska, Magdalena Machnikowska-Sokołowska
Publikováno v:
Children, Vol 8, Iss 4, p 292 (2021)
Arterial ischemic stroke (AIS) in children is a rare condition; its frequency is estimated at 0.58 to 7.9 new onsets in 100,000 children per year. The knowledge on risk factors, clinical outcomes and consequences of pediatric AIS is increasing. Howev
Externí odkaz:
https://doaj.org/article/510d151eff724af689b2b508948cfa08
Autor:
Magdalena Machnikowska-Sokołowska, Jacek Pilch, Justyna Paprocka, Małgorzata Rydzanicz, Agnieszka Pollak, Joanna Kosińska, Piotr Gasperowicz, Katarzyna Gruszczyńska, Ewa Emich-Widera, Rafał Płoski
Publikováno v:
Brain Sciences, Vol 10, Iss 11, p 869 (2020)
Leukoencephalopathy with calcifications and cysts (LCC) is a triad of neuroradiological symptoms characteristic of Labrune syndrome, which was first described in 1996. For 20 years, the diagnosis was only based on clinical, neuroradiological and hist
Externí odkaz:
https://doaj.org/article/2a91f57239c04607be92f5f49084ad90
Autor:
Justyna Paprocka, Magdalena Machnikowska-Sokołowska, Katarzyna Gruszczyńska, Ewa Emich-Widera
Publikováno v:
Brain Sciences, Vol 10, Iss 11, p 849 (2020)
Diseases primarily affecting the basal ganglia in children result in characteristic disturbances of movement and muscle tone. Both experimental and clinical evidence indicates that the basal ganglia also play a role in higher mental states. The basal
Externí odkaz:
https://doaj.org/article/2f75c871ac7448b88383b238d94d7f55