Results 221 to 230 of about 18,843,321 (330)

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

Longitudinal Behavior Phenotype Hallmarks in RNU4‐2 Syndrome: Implications for Clinical Management

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Pathogenic variants in the non‐coding spliceosomal gene RNU4‐2 underlie ReNU syndrome, one of the most prevalent monogenic causes of neurodevelopmental disorders, accounting for ~0.4% of cases. Despite increasing recognition, little is known about the longitudinal behavioral and neuropsychiatric phenotype of affected individuals. We report two
Paola Francesca Ajmone, Claudia Rigamonti, Francesca Brasca, Donatella Milani, Chiara Ranci Ortigosa, Maria Iascone, Lucrezia Goisis, Annalaura Torella, Maria Antonella Costantino   +8 more
wiley   +1 more source

High Concordance of E-Nose-Derived Breathprints in a Healthy Population: A Cross-Sectional Observational Study. [PDF]

Sensors (Basel)
Dragonieri S, Quaranta VN, Portacci A, Ranieri T, Carpagnano GE.   +4 more
europepmc   +1 more source

Understanding the Housing and Support Experience of People With Complex Disability in Australia: A Qualitative Analysis of Submissions to the Disability Royal Commission

Australian Journal of Social Issues, EarlyView.
ABSTRACT In 2019, the Australian government established the Royal Commission into Violence, Abuse, Neglect and Exploitation of People with Disability (‘Disability Royal Commission’, DRC) to investigate widespread mistreatment of people with disability. Nearly 10,000 people with disability, their families and supporters engaged with the DRC.
Kate D'Cruz, Fiona Carey, Libby Witts, Jessie Spence, Peter Mulherin, Megan Topping, Di Winkler, Jacinta Douglas   +7 more
wiley   +1 more source

An end-to-end data analysis framework for real-time detection and source identification of pollution events via e-nose networks. [PDF]

Anal Bioanal Chem
Akbari Lakeh M, Bootsma S, van Nellestijn R, Tinnevelt GH, Jansen JJ.   +4 more
europepmc   +1 more source

Efficacy of Local Bupivacaine Injection of Postoperative Pain in Endoscopic Sinus Surgery

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Regional anesthesia is effective in alleviating postoperative pain and reducing the requirement for systemic pain medications. However, optimal postoperative pain management in endoscopic sinus surgery (ESS) remains challenging.
Wiracha Leewannapasai, Navarat Tangbumrungtham, Kanokporn Sarsitthithum, Kangsadarn Tanjararak, Boonsam Roongpuvapaht   +4 more
wiley   +1 more source

Use of a Novel Passive E-Nose to Monitor Fermentable Prebiotic Fiber Consumption. [PDF]

Sensors (Basel)
Kosinski L, Engen PA, Swanson B, Villanueva M, Shaikh M, Green SJ, Naqib A, Hamaker B, Cantu-Jungles TM, Keshavarzian A.   +9 more
europepmc   +1 more source

Healthcare Resource Utilization and Cost After Temperature‐Controlled Radiofrequency Treatment of Nasal Airway Obstruction: A Real‐World Longitudinal Claims Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Nasal airway obstruction (NAO) is prevalent with substantial health and quality of life burdens. Nasal valve collapse (NVC) is one structural cause of NAO. Temperature‐controlled radiofrequency (TCRF) nasal valve remodeling offers an alternative to invasive surgery.
David W. Kennedy, Gavin Setzen, Ashleigh A. Halderman, Kevin C. Welch, Bobby Tajudeen, Gary M. Owens, Paul J. Niklewski, Masayoshi Takashima   +7 more
wiley   +1 more source

NMR-Based Metabolomic and QMB-Based E-Nose Approaches to Evaluate the Quality and Sensory Features of Pasta Fortified with Alternative Protein Sources. [PDF]

Molecules
Chiossi M, De Santis D, Modesti M, Ferri S, Fidaleo M, Buonocore F, Porcelli F, Imperlini E.   +7 more
europepmc   +1 more source

Anatomic Diagram as a Novel Assessment Strategy for Subclinical Local Residual Disease in Sinonasal Squamous Cell Carcinoma and Intestinal‐type Adenocarcinoma

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective In the last two decades, transnasal endoscopic surgery (TES) has become pivotal in the management of sinonasal tumors. This approach involves a multiblock tumor resection, adding complexity to the interpretation of surgical margins after pathological examination.
Piergiorgio Gaudioso, Leonardo Calvanese, Stefano Taboni, Giacomo Contro, Diego Cazzador, Tommaso Saccardo, Gloria Schiavo, Vittorio Rampinelli, Alberto Schreiber, Gabriele Testa, Cesare Piazza, Enzo Emanuelli, Davide Mattavelli, Piero Nicolai, Marco Ferrari   +14 more
wiley   +1 more source