Results 91 to 100 of about 120,934 (263)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

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

International 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, En‐Ying Wang, Ying‐Shuo Hsu, Ming‐Shao Tsai, Cheng‐Jung Wu, Chia‐Hao Chang, Yi‐Li Hwang, Han‐Lo Teng, Jun‐Wei Hsieh, Chien‐Yu Huang   +9 more
wiley   +1 more source

Temperature‐Controlled Radiofrequency for Severe Nasal Airway Obstruction: A Non‐Inferiority Comparison With Surgical Intervention

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction Temperature‐controlled radiofrequency (TCRF), septoplasty (ST) with turbinate reduction, and functional rhinoplasty (FR) are treatment options for nasal airway obstruction (NAO) and nasal valve dysfunction (NVD), but no direct comparison of these procedures has been performed. Methods This prospective, open‐label, non‐inferiority (
Greg Davis, Zeeshan Aziz, Jose Barrera, William Blythe, Chris Davis, Steven Davis, Thomas Higgins, Charles Lano, Gregory Levitin, Frederick Lopatin, Samuel Oyer, Stacey Silvers, Ariel Waitzman, Randall Ow   +13 more
wiley   +1 more source

Complications and Clinical Outcomes Following Modified Endoscopic Denker's With Pyriform Aperture Preservation: A Prospective Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The modified endoscopic Denker's (MED) approach provides access to all maxillary sinus (MS) walls for resection of various MS and retromaxillary pathologies, but the anteromedial maxilla has historically been resected. This study determined complication rates and outcomes following MED with pyriform aperture (PA) preservation ...
Yasser Almansour, Lane Donaldson, Khaled Kashlan, Swapna Vemuri, Jun Jin, John R. Craig   +5 more
wiley   +1 more source

Safety of oral anticoagulants: focus on cerebral microbleeds

Российский кардиологический журнал
Oral anticoagulants are currently widely used, which requires continued research on their safety. With the improvement of diagnostic methods and power of magnetic resonance systems, cerebral microbleeds (CMBs), which are small deposits of hemosiderin ...
M. S. Chernyaeva, E. A. Moiseeva, A. A. Pogodina, E. A. Prokhorova, O. V. Zykova, L. А. Egorova, O. M. Maslennikova, N. V. Lomakin, D. A. Sychev   +8 more
doaj   +1 more source

Hemorrhagic bullae of the oral mucosa

JAAD Case Reports, 2016
Paci, Karina, Varman, Katherine M., Sayed, Christopher J.   +2 more
openaire   +2 more sources

Establishment of a chronic aspiration pneumonia mouse model using oropharyngeal aspiration of food suspension

Animal Models and Experimental Medicine, EarlyView.
Four aspiration methods (UV, IN, IT, and OA) were compared, and OA was identified as the most effective delivery technique. A chronic aspiration pneumonia model was then established through repeated OA of food suspension or gastric contents. Integrated analyses, including micro‐CT, histopathology, cytokine profiling, and RNA sequencing, revealed ...
Qianwen Li, Fansen Lin, Hongzhi Gao, Yun Zhao, Yuqi Liu   +4 more
wiley   +1 more source

Cold Gas Plasma Induces Platelet Activation and Hemostasis in Native and Anticoagulated Human Blood

Advanced NanoBiomed Research, EarlyView.
Cold physical gas plasma induces platelet activation and hemostatic responses in native and anticoagulated human blood. Treatment efficacy depends on plasma parameters, including gas composition, distance, and exposure mode, which govern reactive species delivery and energy transfer.
Sander Bekeschus, Broder Poschkamp, Lea Miebach, Anke Schmidt, Linus Hübner, Julia van der Linde   +5 more
wiley   +1 more source

Oral Hemorrhage [PDF]

, 2020
openaire   +1 more source