The PURPLE N study: objective and perceived nutritional status in children and adolescents with cerebral palsy

Autor: Andras, Fogarasi, Elisa, Fazzi, Ana R P, Smorenburg, Maria, Mazurkiewicz-Beldzinska, Argirios, Dinopoulos, Alena, Pobiecka, Dea, Schröder-van den Nieuwendijk, Josef, Kraus, Hasan, Tekgül, Maria, Koutsaki, Giovanni, Baranello, Simona, Bertoli, Elisa, Caramaschi, Duccio Maria, Cordelli, Ramona, De Amicis, Maria Luisa, Forchielli, Azzurra, Guerra, Althea, Lividini, Maddalena, Marchiò, Andrea, Rossi, Dea Schröder-van den, Nieuwendijk, Jędrzej, Fliciński, Barbara, Gurda, Anna, Lemska, Agnieszka, Matheisel, Zuzanna, Niwinska, Małgorzata, Pawłowicz, Agnieszka, Sawicka, Barbara, Steinborn, Marta, Szmuda, Anna, Winczewska-Wiktor, Marta, Zawadzka, Ebru, Arhan, Kursad, Aydin, Erhan, Bayram, Kursat Bora, Carman, Pinar, Edem, Deniz, Ertem, Özben Akıncı, Goktas, Serdal, Gungor, Goknur, Haliloglu, Aydan, Kansu, Mustafa, Kömür, Akmer, Mutlu, Ceyda Tuna, Kırsaçlıoğlu, Çetin, Okuyaz, Bilge, Özgör, Yesim, Ozturk, Safiye Gunes, Sager, Esra, Sarıgeçili, Mukadder Ayse, Selimoglu, Hepsen Mine Öztürk, Serin, Serap Tıraş, Teber, Gülten, Thomas, Dilsad, Turkdogan, Burcu, Volkan, Coşkun, Yarar, Sanem Keskin, Yilmaz

Purpose: To obtain information on characteristics, management, current objective nutritional status and perception of nutritional status of children with cerebral palsy (CP) from healthcare professionals (HCPs) and caregivers. Materials and methods:

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9727200483ce29407dbc20f7e3e3d6a8
https://avesis.deu.edu.tr/publication/details/824a25c6-3f2f-4d7f-94fc-9d7cf13de9ea/oai

Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine

Autor: Anna Winczewska-Wiktor, Adam Sebastian Hirschfeld, Magdalena Badura-Stronka, Irena Wojsyk-Banaszak, Paulina Sobkowiak, Alicja Bartkowska-Śniatkowska, Valeriia Babak, Barbara Steinborn

Publikováno v: International Journal of Environmental Research and Public Health
International Journal of Environmental Research and Public Health, Vol 19, Iss 775, p 775 (2022)

NALCN mutations lead to complex neurodevelopmental syndromes, including infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) and congenital contractures of limbs and face, hypotonia, and developmental delay (CLIFAHDD), w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ba48d2a28ff1cdf209c5c12d4a40390
http://europepmc.org/articles/PMC8776169

Crawl Position Depends on Specific Earlier Motor Skills

Autor: Alicja Naczk, Ewa Gajewska, Mariusz Naczk, Paulina Komasińska, Barbara Steinborn, Magdalena Sobieska, Jerzy Moczko, Anna Winczewska-Wiktor

Publikováno v: Journal of Clinical Medicine
Journal of Clinical Medicine, Vol 10, Iss 5605, p 5605 (2021)
Journal of Clinical Medicine; Volume 10; Issue 23; Pages: 5605

Early assessment of motor performance should allow not only the detection of disturbances but also create a starting point for the therapy. Unfortunately, a commonly recognised method that should combine these two aspects is still missing. The aim of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed792391a5d90216919f22b57d45df8e
https://pubmed.ncbi.nlm.nih.gov/34884307

First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century

Autor: Magdalena Badura-Stronka, Wojciech Kozubski, Anna Winczewska-Wiktor, Sebastian Hirschfeld Adam, Anita Piontek, Edyta Budzynska, Anna Jakubiuk-Tomaszuk, Barbara Steinborn

Publikováno v: Clinical geneticsREFERENCES. 101(2)

Background Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism caused by recessive variants in the cytochrome P450 CYP27A1 gene. CTX is said to manifest with childhood-onset chronic diarrhea and the classic triad of juvenile-onset c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3762dc707b7b849c92d10d4589e113b2
https://pubmed.ncbi.nlm.nih.gov/34689324

Pharmacoeconomics Aspects of Antiepileptic Drugs in Pediatric Patients with Epilepsy

Autor: Dorota Kopciuch, Jędrzej Fliciński, Barbara Steinborn, Anna Winczewska-Wiktor, Anna Paczkowska, Tomasz Zaprutko, Piotr Ratajczak, Elżbieta Nowakowska, Krzysztof Kus

Publikováno v: International Journal of Environmental Research and Public Health; Volume 19; Issue 12; Pages: 7517

Objective: This study assessed the differentiation of treatment costs with newer and older antiepileptic drugs (AEDs) through its correlation with treatment effectiveness and an adverse event (AE) in pediatric patients with epilepsy (PPE). Methods: P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cbefeba4aa114f812c88f38bbc9e388
https://doi.org/10.3390/ijerph19127517