Results 231 to 240 of about 9,961,334 (337)

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa   +2 more
wiley   +1 more source

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier   +7 more
wiley   +1 more source

Associations of Historic Residential Pesticide Proximity With Proinflammatory Cytokine Levels in a Patient Population With and Without Chronic Rhinosinusitis (CRS)

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Residential proximity to commercial pesticide application has been associated with increased odds of developing chronic rhinosinusitis (CRS) with in vitro studies demonstrating cytotoxic dose‐dependent effects on sinonasal epithelia.
Melodyanne Y. Cheng   +8 more
wiley   +1 more source

Superior Benefits of Combining Mepolizumab With Sinus Surgery Compared to Mepolizumab Alone: Results From a Randomised 6‐Month Trial

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) significantly impacts patients’ quality of life (QoL). Standard treatments include nasal irrigations, nasal steroids, systemic corticosteroids, and functional endoscopic sinus surgery (FESS).
Anne‐Sophie Homøe   +7 more
wiley   +1 more source

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

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

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

open access: yesInternational 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   +8 more
wiley   +1 more source

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