Results 271 to 280 of about 523,743 (349)

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy   +15 more
wiley   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote   +9 more
wiley   +1 more source

Successful microvascular surgery in patients with thrombophilia in head and neck surgery: a case series. [PDF]

open access: yesJ Med Case Rep
Faber J   +8 more
europepmc   +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

Self‐Administered Taste Testing Without Water: Normative Data for the 53‐Item Waterless Empirical Taste Test (WETT)

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background According to the National Health and Nutrition Examination Survey (NHANES), more than 20 million Americans suffer from chronic taste problems. Unfortunately, quantitative testing is rarely performed, self‐reports are inaccurate, and “taste” is often confused with olfaction‐dependent flavors.
Richard L. Doty   +2 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

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

Optimizing Healing: Evaluating Ozone Therapy's Impact on Skin Cancer Surgery Reconstruction at the Amazon Head and Neck Surgery Center

open access: yesEJC Skin Cancer
E. Feltrim   +7 more
doaj  

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