Results 61 to 70 of about 6,677,368 (199)

Identifying High‐Risk Children Safe for Same‐Day Discharge After Tonsillectomy

The Laryngoscope, Volume 136, Issue 10, Page 4497-4504, October 2026.
ABSTRACT Objective Current guidelines recommend overnight admission for children with severe obstructive sleep apnea (OSA) and obesity undergoing tonsillectomy, although most have uneventful postoperative courses. We aimed to identify low‐risk subgroups within this high‐risk population who may be candidates for same‐day discharge. Methods Retrospective
Amy Ho, Yann‐Fuu Kou, Christopher Liu, Cynthia S. Wang, Felicity Lenes‐Voit, Stephen R. Chorney, Kenneth Lee, Seckin Ulualp, Ron B. Mitchell, Romaine F. Johnson   +9 more
wiley   +1 more source

Botulinum Toxin Type A for the Treatment of Equinus Deformity in to Patients With Mucopolysaccharidosis Type II

, 2012
Mucopolysaccharidoses are lysosomal storage disorders that are caused by a deficiency in the enzymes that degrade glycosaminoglycans. The accumulation of glycosaminoglycans affects multiple systems, resulting in coarse facial features, short stature ...
Nava, Esmeralda, Weber, Peter, Nuoffer, Jean-Marc, Grunt, Sebastian, Gautschi, Matthias, Nava E, Grunt S, Nuoffer JM, Weber P, Gautschi M   +9 more
core   +1 more source

Gene Therapy for Mucopolysaccharidosis Type II—A Review of the Current Possibilities

, 2021
Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder based on a mutation in the IDS gene that encodes iduronate 2-sulphatase. As a result, there is an accumulation of glycosaminoglycans—heparan sulphate and dermatan sulphate—in almost ...
Paweł Zapolnik, Antoni Pyrkosz
core   +1 more source

Brain‐targeted stem cell gene therapy corrects mucopolysaccharidosis type II via multiple mechanisms

EMBO Molecular Medicine, 2018
The pediatric lysosomal storage disorder mucopolysaccharidosis type II is caused by mutations in IDS, resulting in accumulation of heparan and dermatan sulfate, causing severe neurodegeneration, skeletal disease, and cardiorespiratory disease.
Hélène FE Gleitz, Ai Yin Liao, James R Cook, Samuel F Rowlston, Gabriella MA Forte, Zelpha D'Souza, Claire O'Leary, Rebecca J Holley, Brian W Bigger   +8 more
doaj   +1 more source

Inclusion Cell Disease - A Rare Cause of Megalocornea with Corneal Edema

Delhi Journal of Ophthalmology, 2018
Inclusion cell disease (I cell disease), also known as mucolipidosis type II, is a rare congenital metabolic storage disorder which seemingly occupies an intermediate position between mucopolysaccharidosis and sphingolipidosis.1 We are hereby presenting ...
Namrata, Rahul Ranjan, Gaurav Arya
doaj   +1 more source

Emerging Paediatric Uses of Dupilumab Beyond Approvals

Clinical &Experimental Allergy, Volume 56, Issue 10, Page 1162-1176, October 2026.
Dupilumab, through IL‐4Rα blockade, shows promising efficacy beyond approved indications in paediatric diseases driven by T2 inflammation. Emerging evidence—mainly from small studies—supports improvements in disease severity and quality of life, highlighting its potential as a targeted, steroid‐sparing therapy while underscoring the need for ...
Simone Foti Randazzese, Anna Calamita, Diletta D'Angelo, Alessia Marseglia, Esther Mesa Lombardero, Sara Pedersoli, Micol Tedeschi, Mara De Amici, Sara Manti, Valeria Brazzelli, Amelia Licari, Gian Luigi Marseglia   +11 more
wiley   +1 more source

Molecular Dynamics Reveals a Glycan Conformation Underlying IDUA Dysfunction in Attenuated MPS I

Journal of Cellular and Molecular Medicine, Volume 30, Issue 19, October 2026.
ABSTRACT Mucopolysaccharidosis Type I (MPS I) is a rare autosomal recessive lysosomal storage disorder caused by mutations in α‐ʟ‐iduronidase (IDUA) enzyme, a glycosylated hydrolase responsible for glycosaminoglycan (GAG) degradation. Pathogenic variants are associated with a broad clinical spectrum, from severe Hurler syndrome to attenuated Scheie ...
Maria Giovanna Eva Papadopoulos, Giuseppe Bonapace, Lorenzo Taglietti, Barbara La Ferla, Rosanna Rizzi, Michele Pitaro, Daniela Concolino, Domenico Alberga, Giuseppe Felice Mangiatordi   +8 more
wiley   +1 more source

Synaptic Proteostasis in Health and Disease

Journal of Neurochemistry, Volume 170, Issue 10, October 2026.
The localised creation and degradation of proteins at the pre and postsynaptic terminal are processes that are crucial for neuronal homeostasis. Synaptic proteostasis pathways are frequently reported as dysregulated in neurodevelopmental and neurodegenerative disorders.
Paul G. Donlin‐Asp, Emma L. Clayton
wiley   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2110-2117, September 2026.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Lysosomal Dysfunction Is Associated With Intervertebral Disc Degeneration: Multiomics and Machine Learning Identify Molecular Subtypes and Hub Genes

The Journal of Gene Medicine, Volume 28, Issue 9, September 2026.
Intervertebral disc degeneration (IVDD) is linked to lysosomal dysfunction, impaired autophagic degradation, and cellular senescence. Integrating bulk and single‐cell transcriptomics with machine learning, this study identified two lysosome‐related molecular subtypes and four hub genes: HYAL1, MMD, PLD3, and ANK3.
Yang Yang, Hong Li, Yixuan Ou, Yaping Yu, Kaiqiang Sun, Shixing Chen, Chenglong Ji   +6 more
wiley   +1 more source