Results 101 to 110 of about 216,383 (290)

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden   +2 more
wiley   +1 more source

Prevalence of mouth breathing among children

open access: yesJornal de Pediatria, 2008
To determine the prevalence of mouth breathing among children aged 3 to 9 years living in the urban districts of the town of Abaeté, MG, Brazil.This study assesses a representative, randomized sample of the town's population (23,596 inhabitants). Children were selected by lots according to a random number table until 370 had been enrolled; this number ...
Rubens Rafael, Abreu   +3 more
openaire   +2 more sources

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

open access: yesAmerican 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   +5 more
wiley   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Building Community Amidst the Institutional Whiteness of Graduate Study: Black Joy and Maroon Moves in an Academic Marronage

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This article reflects on the construction of a supportive community of Black Afro‐diasporic graduate students and their supervisors researching issues relating to race in the field of education in Australia. It draws on the concept of marronage—a term rooted in the fugitive act of becoming a maroon, where enslaved people enacted an escape in ...
Hellen Magoi   +6 more
wiley   +1 more source

Dupilumab Beyond the Airway: Decreased Morbidity in a Real‐World Analysis

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Post hoc analyses of clinical trials have characterized dupilumab's adverse effects, yet the real‐world impact in chronic rhinosinusitis with nasal polyps (CRSwNP) and asthma is not well described. This study aims to characterize the risks of lymphoma, cardiovascular events, eosinophilia, joint pain, inflammatory arthritis, and ...
Emma J. Anisman   +9 more
wiley   +1 more source

Effect of Laser Posterior Nasal Neurolysis for the Treatment of Chronic Rhinitis: A Randomized Controlled Trial

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background To determine the safety and efficacy of laser ablation of the posterior nasal nerve (PNN) for the treatment of chronic rhinitis. Methods This study was a single‐center, prospective, single‐blinded, randomized sham‐controlled trial. Patients with a 24‐h reflective Total Nasal Symptom Score (rTNSS) ≧ 5, rhinorrhea ≧ 2, and congestion ≧
Jyun‐Yi Liao   +9 more
wiley   +1 more source

SDPR–STK38 axis controls the proliferation–differentiation balance in alveolar type II cells

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The present study identifies SDPR as a pivotal regulator orchestrating the balance between proliferation and differentiation in alveolar type II (AT2) cells. In SDPR+/+ cells, SDPR binds to and inhibits STK38 activity, thereby sustaining GSK‐3β signaling functionality to promote cyclin D1 degradation and maintain cell cycle homeostasis.
Jie Wang   +6 more
wiley   +1 more source

Technobiological Pathways for High‐CO₂ Capture Using Micro‐/Macroalgae: Genetic Engineering, Process Automation, and Value‐Added Bioproducts

open access: yesAsia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT Greenhouse gas (GHG) emissions have emerged as one of the most critical drivers of climate change; this is primarily due to high concentrations and long atmospheric life of carbon dioxide (CO2). For a significant amount of time, various biological processes such as microalgal cultivation, cyanobacterial systems, photosynthetic microorganisms ...
Sadhana Semwal, Harish Chandra Joshi
wiley   +1 more source

Metasurfaces and Metadevices for Topological Electromagnetic Waves

open access: yesAdvanced Physics Research, EarlyView.
Optical topologies refer to diverse topological localized structures made by diverse parameters of light fields, such as vortices, skyrmions, and hopfions. This article navigates a direction of metasurface‐based integrated devices for generation, manipulation and detection of novel topologies of light, which would be a rapidly growing interdisciplinary
Rensheng Xie   +3 more
wiley   +1 more source

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