Results 141 to 150 of about 37,810 (312)

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

Seeking stability for gene addition in inborn errors of metabolism. [PDF]

Mol Ther Nucleic Acids
von Beck T, Koeberl DD.
europepmc   +1 more source

Aniridia‐associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
N. Szentmáry, S. Suiwal, M. Amini, F. N. Fries, A. Náray, L. Latta, Z. Li, S. Li, S. Liu, S. L. Hsu, S. Kundu, G. Tóth, S. Trusen, J. Zimmermann, B. Seitz, B. Käsmann‐Kellner, Z. Hoxha, A. Langenbucher, O. Stachs, M. Cortón‐Perez, K. Tory, A. Csorba, Z. Z. Nagy, M. C. Acosta, J. Gallar, M. Csidey, E. Maka, T. Stachon   +27 more
wiley   +1 more source

Modelling the Transference of Paediatric Patients with Inborn Errors of Metabolism to Adult Hospitals: Clinical Experience. [PDF]

J Clin Med
Deudero A, Lasheras E, Ventura R, Montserrat-Carbonell C, Milisenda JC, Juliá-Palacios N, Matas A, Forga-Visa MT, López-Galera RM, García-Villoria J, Placeres M, Pané A, Garrabou G, Ribes A, Cardellach F, Moreno-Lozano PJ, Garcia-Cazorla À, Campistol J, Iem-Sjd-Hcb Consortia.   +18 more
europepmc   +1 more source

Post‐Banding Ulcer Bleeding After Endoscopic Ligation: Incidence, Risk Factors and Outcomes in Patients With Cirrhosis

Alimentary Pharmacology &Therapeutics, EarlyView.
A PBUB is a rare but often fatal complication of endoscopic variceal band ligation. The relevant risk factors contributing to PBUB are unknown and consequently there are no effective preemptive strategies. This study highlights kidney disease as a predictor of PBUB together with the well‐established higher risk for urgent band ligation.
Maria de Brito Nunes, Matthias Knecht, Jonas Schropp, Reiner Wiest, Jaume Bosch, Annalisa Berzigotti   +5 more
wiley   +1 more source

Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes. [PDF]

Int J Neonatal Screen
Upadia J, Noh G, Crivelly K, Aziz E, Cunningham A, Andersson HC.   +5 more
europepmc   +1 more source

Effects of prematurity and socio‐economic status on early life language exposure: A video coding study

British Journal of Developmental Psychology, EarlyView.
Abstract Preterm birth is associated with later language impairment and delay. Socio‐economic deprivation is linked to decreased language exposure in early childhood, but it is unknown how prematurity influences this relationship. This study investigated the effects of socio‐economic status and gestational age at birth on language exposure, in a sample
Sinéad O'Carroll, Bethan Dean, Yu Wei Chua, Victoria Ledsham, James P. Boardman, Sue Fletcher‐Watson   +5 more
wiley   +1 more source

An overview on cardiac involvement in Inborn Errors of Metabolism: from clinical clues to nutritional management strategies. [PDF]

Front Cardiovasc Med
Montanari C, Tagi VM, Tosi M, Stucchi E, Pisano EM, Raso I, Fini G, Fiori L, Mannarino S, Zuccotti G, Verduci E.   +10 more
europepmc   +1 more source

Amyloid‐β aggregates induce vasculopathy via ferroptosis in brain endothelial cells

Brain Pathology, EarlyView.
Blood–brain barrier (BBB) disruption is evident in brains with amyloidopathy. In this study, we demonstrate that amyloid β (Aβ) drives abnormal lipid metabolism and lipid droplet formation in brain endothelial cells, leading to lipid peroxidation and ferroptosis.
Suhyeon Son, Suji Kim, Min‐Tae Jeon, Moonseok Choi, Kyu‐Sung Kim, Suji Lee, Seung‐Yeol Nah, Do‐Geun Kim   +7 more
wiley   +1 more source

Clinical periodontal diagnosis

Periodontology 2000, EarlyView., 2023
Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi, Andrea Roccuzzo, Jean‐Claude Imber, Alexandra Stähli, Björn Klinge, Niklaus P. Lang   +5 more
wiley   +1 more source