Results 261 to 270 of about 3,019,348 (325)

A Case of Prader‐Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of MAGEL2, NDN, and MKRN3, excluding the ...
Jannis Buecking, Yu An, Weimin Bi, Katrin Hinderhofer, Susanne Theiß, Anne Slavotinek, Christian P. Schaaf   +6 more
wiley   +1 more source

Social laughter is correlated with an elevated pain threshold

, 2011
R. I. M. Dunbar, Rebecca A. Baron, Anna Frangou, Eiluned Pearce, Edwin J. C. van Leeuwen, Julie Stow, Giselle Partridge, Ian Macdonald, Vincent Barra, Mark van Vugt   +9 more
openalex   +1 more source

Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT No validated oral health‐related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non‐verbally. This qualitative study aimed to explore the domains that were important to the oral health‐related quality of life in individuals with Rett syndrome (RTT).
Yvonne Yee Lok Lai, Jenny Anne Downs, Helen Margaret Leonard, Laurence James Walsh, Sobia Zafar   +4 more
wiley   +1 more source

Beyond administrative burden: Activation and administrative harm

Australian Journal of Social Issues, EarlyView.
Abstract Within recent public policy and administration scholarship, there has been a growing focus on the concept of “administrative burden” to describe the learning, compliance and psychological costs incurred by citizens when trying to access services and exercise social and political rights. Specifically, in the context of activation and welfare‐to‐
Michael McGann, Sarah Ball
wiley   +1 more source

Homelessness Service Usage Patterns of 30,000 Homeless and At‐Risk Households: The Melbourne Access Point Study

Australian Journal of Social Issues, EarlyView.
ABSTRACT Over the last three decades, overseas researchers have utilised administrative data to identify distinct patterns in shelter use. In Australia, the use of administrative data to understand service utilisation patterns among people ‘at risk’ of homelessness and experiencing homelessness is limited.
Godwin Kavaarpuo, Kathryn Daley, Guy Johnson   +2 more
wiley   +1 more source

Beyond the Lung. Impact of Elexacaftor/Tezacaftor/Ivacaftor on Sinonasal Disease in Children With Cystic Fibrosis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Elexacaftor/tezacaftor/ivacaftor (ETI) is a Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) therapy that improves pulmonary function and chronic rhinosinusitis (CRS) in cystic fibrosis (CF) adults with at least one copy of the F508del CFTR mutation.
Margaux Petitjean, Alexia Letierce, Anne‐Sophie Bonnel, Philippe Reix, Eric Deneuville, Nathalie Stremler, Romain Luscan, Vincent Couloigner, Laurent Mely, Katia Bessaci, Guillaume Labbe, Christophe Marguet, Mairead Kelly‐Aubert, Fatiha Hassani, Isabelle Sermet‐Gaudelus, François Simon, the MODUL‐CF Study Group   +16 more
wiley   +1 more source

Differential Immune Cell Infiltration in Eosinophilic and Non‐Eosinophilic CRS: Correlations With Clinical, Endoscopic, and Radiological Findings

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The pathogenesis of inflammation in eosinophilic chronic rhinosinusitis (ECRS) and non‐eosinophilic chronic rhinosinusitis (NECRS) remains poorly understood. This study aimed to assess immune cell infiltration within the sinonasal microenvironment in these conditions.
Katarzyna Czerwaty, Katarzyna Piszczatowska, Mirosław J. Szczepański, Natalia Jermakow, Nils Ludwig, Karolina Dżaman   +5 more
wiley   +1 more source

3‐Year Outcomes of Temperature‐Controlled Radiofrequency Ablation of the Posterior Nasal Nerve in Patients With Chronic Rhinitis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Temperature‐controlled radiofrequency (TCRF) ablation of the posterior nasal nerve has been shown to improve chronic rhinitis (CR) symptoms and quality of life (QoL). This study assesses the durability of TCRF's effectiveness and safety 3 years post‐procedure in patients with perennial allergic CR and nonallergic CR.
J. Pablo Stolovitzky, Randall A. Ow, Stacey L. Silvers, Bobby A. Tajudeen, Chad M. McDuffie, Marc Dean, Ahmad R. Sedaghat, Katie Phillips, Masayoshi Takashima   +8 more
wiley   +1 more source

Long‐Term Particulate Matter Exposure May Increase Risk of Chronic Rhinosinusitis WIth Nasal Polyposis: Results from an Exposure‐Matched Study

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Particulate matter ⩽2.5 µm in diameter (PM2.5) and its role in chronic rhinosinusitis (CRS) pathogenesis have gained heightened attention. We previously demonstrated that PM2.5 exposure may bias the nasal mucosa in CRS toward a Type 2 inflammatory pathway.
Rory J. Lubner, Mason Krysinski, Ping Li, Rakesh K. Chandra, Justin H. Turner, Naweed I. Chowdhury   +5 more
wiley   +1 more source

The Development and Validation of the Smell‐Qx Questionnaire, Based on a Systematic Review of the Literature and the COMET Initiative on the Development of Core Outcome Sets for Clinical Trials in Olfactory Disorders

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory dysfunction affects up to 22% of the population. Accurate assessment is vital for diagnosis and tracking outcomes, often using patient‐reported outcome measures (PROMs). Aims We aimed to develop and validate a novel questionnaire for assessing olfactory and gustatory dysfunction.
Matt Lechner, Alexander Fjaeldstad, Umar Rehman, Jacklyn Liu, David Boniface, Jim Boardman, Duncan Boak, Aytug Altundag, Johannes Frasnelli, Simon Gane, Eric Holbrook, Julien Hsieh, Caroline Huart, Iordanis Konstantinidis, Basile N. Landis, Valerie J. Lund, Alberto Macchi, Eri Mori, Christian Mueller, Joaquim Mullol, Simona Negoias, Zara M. Patel, Jayant M. Pinto, Sophia Poletti, Vijay Ramakrishnan, Philippe Rombaux, Jan Vodicka, Antje Welge‐Luessen, Katherine L. Whitcroft, Carol Yan, Carl Philpott, Thomas Hummel   +31 more
wiley   +1 more source