Results 41 to 50 of about 15,739 (180)

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

The Laryngoscope, EarlyView.
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

Hepatomegaly syndrome in mucopolysaccharidosis and type in children of ukraine: features of clinical characteristics

Актуальні проблеми сучасної медицини, 2021
Summary. The article is devoted to a topical issue in pediatrics - hepatomegaly syndrome in a rare metabolic pathology - mucopolysaccharidosis type I. Goal.
Nataliia Samonenko, Olena Okhotnikova, Nataliia Gorovenko   +2 more
doaj   +1 more source

Rare‐Variant Burden across Lysosomal Genes Implicates Sialylation and Ganglioside Metabolism in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Lysosomal dysfunction is central to Parkinson's disease (PD) pathogenesis, with GBA1 representing the strongest established genetic risk factor. Numerous other genes involved in lysosomal sphingolipid, glycosphingolipid, and ceramide metabolism have been proposed as contributors to PD, highlighting the need for genetic analyses ...
Konstantin Senkevich, Sitki Cem Parlar, Cloe Chantereault, Lang Liu, Eric Yu, Uladzislau Rudakou, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin‐Baer, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Roy N. Alcalay, Ziv Gan‐Or   +21 more
wiley   +1 more source

Mucopolysaccharidoses and the blood–brain barrier

Fluids and Barriers of the CNS, 2022
Mucopolysaccharidoses comprise a set of genetic diseases marked by an enzymatic dysfunction in the degradation of glycosaminoglycans in lysosomes. There are eight clinically distinct types of mucopolysaccharidosis, some with various subtypes, based on ...
Onur Sahin, Hannah P. Thompson, Grant W. Goodman, Jun Li, Akihiko Urayama   +4 more
doaj   +1 more source

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this.
A. Gibbs, R. Braham, V. Ramachandran, R. Roberts, C. Willison, T. Ashraf, J. Cobben, A. Gardham, M. Holder‐Espinasse, T. Homfray, S. G. Mehta, D. Tapon, P. Vasudevan, N. J. Chandler   +13 more
wiley   +1 more source

Emerging Paediatric Uses of Dupilumab Beyond Approvals

Clinical &Experimental Allergy, EarlyView.
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

Morquio‐B disease: Clinical and genetic characteristics of a distinct GLB1‐related dysostosis multiplex

JIMD Reports, 2020
Background Morquio‐B disease (MBD) is a distinct GLB1‐related dysostosis multiplex involving the trabecular parts of long bones and spine, presenting a mild phenocopy of GALNS‐related Morquio‐A disease.
Iman S. Abumansour, Nataliya Yuskiv, Eduard Paschke, Sylvia Stockler‐Ipsiroglu   +3 more
doaj   +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

Improvement in functional gait parameters following corrective thoracolumbar surgery in children affected by Mucopolysaccharidosis 1 (Hurler syndrome)

Orphanet Journal of Rare Diseases, 2020
Objective Thoracolumbar kyphosis is a common indication for spinal surgery in children with Mucopolysaccharidosis. Functional outcome of spinal surgical intervention has never been published in patients with this rare disease.
Rajkumar Sundarapandian, Simon Jones, Alexander Broomfield, Pauline Hensman, Neil Oxborrow   +4 more
doaj   +1 more source

Mucopolysaccharidosis IVA and glycosaminoglycans [PDF]

Molecular Genetics and Metabolism, 2017
Mucopolysaccharidosis IVA (MPS IVA; Morquio A: OMIM 253000) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to accumulation of specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and keratan sulfate (KS).
Shaukat, Khan, Carlos J, Alméciga-Díaz, Kazuki, Sawamoto, William G, Mackenzie, Mary C, Theroux, Christian, Pizarro, Robert W, Mason, Tadao, Orii, Shunji, Tomatsu   +8 more
openaire   +2 more sources