Results 111 to 120 of about 242,314 (287)

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, EarlyView.
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

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

The Impact of Deep Brain Stimulation on the Quality of Life and Swallowing in Individuals with Parkinson's Disease

International Archives of Otorhinolaryngology, 2018
Introduction Deep brain stimulation (DBS) is an established treatment for Parkinson's disease (PD). However, there is little evidence regarding the effect of DBS on dysphagia.
Maira Rozenfel Olchik, Marciéle Ghisi, Annelise Ayres, Arthur Francisco Shumacher Schuh, Paulo Petry Oppitz, Carlos Roberto de Mello Rieder   +5 more
doaj   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Cost Utility Analysis of Fluticasone Exhalation Delivery System Versus Budesonide Nasal Irrigation for Chronic Rhinosinusitis With Nasal Polyps

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) is managed after sinus surgery with topical corticosteroids. Given limited distribution of nasal steroid sprays, patients have the option of either steroid nasal irrigation (SNI) or exhalation delivery system with fluticasone (EDS‐FLU).
Daniel Xiao, Martin J. Citardi, William C. Yao, Amber U. Luong   +3 more
wiley   +1 more source

Establishment of a chronic aspiration pneumonia mouse model using oropharyngeal aspiration of food suspension

Animal Models and Experimental Medicine, EarlyView.
Four aspiration methods (UV, IN, IT, and OA) were compared, and OA was identified as the most effective delivery technique. A chronic aspiration pneumonia model was then established through repeated OA of food suspension or gastric contents. Integrated analyses, including micro‐CT, histopathology, cytokine profiling, and RNA sequencing, revealed ...
Qianwen Li, Fansen Lin, Hongzhi Gao, Yun Zhao, Yuqi Liu   +4 more
wiley   +1 more source

Increasing Rates of Esophageal Stricture and Dilation Over 2 Decades in Eosinophilic Esophagitis

Gastro Hep Advances, 2023
S.B. Greenberg, A.A. Ocampo, Z. Xue, N.C. Chang, K.P. Thakkar, S.B. Reddy, C.J. Lee, C.J. Ketchem, W.D. Redd, S. Eluri, C.C. Reed, E.S. Dellon   +11 more
doaj   +1 more source

Cancer therapy‐induced ototoxicity: Current challenges and emerging management strategies

Animal Models and Experimental Medicine, EarlyView.
This review comprehensively examines the key risk factors for cancer therapy‐induced ototoxicity, including cumulative drug dose, genetic susceptibility, and combined treatment regimens. It highlights current challenges in ototoxicity monitoring, such as insufficient timeliness and limited clinical adoption, and advocates for standardized auditory ...
Yuqi Huang, Baoying Xu, Xinru Chen, Yu Chen, Dehong Yu   +4 more
wiley   +1 more source

Functional morphology of the pharyngeal teeth of the ocean sunfish, Mola mola

The Anatomical Record, EarlyView.
Abstract Many fish use a set of pharyngeal jaws in their throat to aid in prey capture and processing, particularly of large or complex prey. In this study—combining dissection, CT scanning, histology, and performance testing—we demonstrate a novel use of pharyngeal teeth in the ocean sunfish (Mola mola), a species for which pharyngeal jaw anatomy had ...
Benjamin Flaum, Michael J. Blumer, Mason N. Dean, Laura J. Ekstrom   +3 more
wiley   +1 more source