Results 91 to 100 of about 408 (259)

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Altered Nasal Microbiota in Sinonasal Tumors: A Comparative Analysis of Malignant and Benign Sinonasal Tumors

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Although shifts in nasal microbiota have been well‐documented in inflammatory upper airway conditions, microbiota tumor‐associated alterations remain uncharacterized. This study is the first to compare sinonasal microbiota profiles of patients with malignant tumors (MT), benign tumors (BT), and controls, offering insights into tumor‐
Evan A. Patel, Phillip A. Engen, Glen D. Souza, Sarah Khalife, Donyea Moore, Lauren Kret, Pedro Escobedo, Stefan J. Green, Ankur Naqib, Peter Filip, Peter Papagiannopoulos, Bobby A. Tajudeen, Mahboobeh Mahdavinia, Pete S. Batra   +13 more
wiley   +1 more source

Perturbed nasal resonance – An insight into alterations in post adenoidectomy patients [PDF]

Perspectives In Medical Research, 2017
Introduction Adenoidectomy with or without tonsillectomy is a common procedure performed by otolaryngologist in children. Most children between the ages 4 to 12 years have a relative hypertrophy of the lymphoid tissue in pharynx, including both ...
Vinay V Rao1 , Rajneesh S Khelgikar2 , Vishak S3 , Mahesh Bhat T4 , Preeti Shetti5 , Jacqueline B Fernandes6
doaj  

Development of Phonemically Balanced Passage, Oral Passage, and Nasal Passage in the Punjabi Language. [PDF]

Indian J Otolaryngol Head Neck Surg, 2023
Sharma P, Sharma A, Munjal SK, Mohindra S, Gupta D, Singh SP.   +5 more
europepmc   +1 more source

Dosing Interval Extension of Dupilumab in CRSwNP: Five‐Year Real World Outcomes

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) is a persistent, often Type 2‐mediated inflammatory disease that markedly impairs quality of life. While dupilumab provides rapid improvement, there is limited evidence on long‐term outcomes beyond 2 years, and the clinical impact of dosing‐interval extension remains unclear.
Nicholas J. Campion, Dioni‐Pinelopi Petsiou, Florian C. Fally, Karina Berbalk, Noah F. Melamed, Aldine Tu, Christina Morgenstern, Fana Alem Kidane, Mohammed Zghaebi, Linda Liu, Minghao Pan, Tina J. Bartosik, Victoria Stanek, Katarina Gangl, Julia Eckl‐Dorna, Sven Schneider   +15 more
wiley   +1 more source

Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR‐F508del Rabbit Model

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disorder frequently associated with impaired mucociliary clearance and bacterial infection. Individuals carrying a single cystic fibrosis transmembrane conductance regulator (CFTR) mutation exhibit partial CFTR dysfunction and are increasingly recognized as being at risk ...
Do‐Yeon Cho, Alexis E. McFeely, Daniel Skinner, Shaoyan Zhang, Justin Hedvat, Weslee Ping‐ay, Daniel M. Beswick, Justin H. Turner, Bradford A. Woodworth, Jie Xu   +9 more
wiley   +1 more source

Effect of adenoid size on the post-adenoidectomy hypernasality in children with a normal palate. [PDF]

Eur Arch Otorhinolaryngol, 2023
Abdel-Aziz M, Hady AFA, Sheikhany AR, Yousef AI, Sabry OA, Farag HM.   +5 more
europepmc   +1 more source

Olfactory Bulb Volume Reflects Olfactory Dysfunction and Network Organization: Insights From the Population‐Based Rhineland Study

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory dysfunction is common in aging and an early symptom of neurodegenerative diseases, but how structural (olfactory bulb [OB] volume) and functional (olfactory network [OFN] functional connectivity [FC]) brain features interact to shape odor identification ability remains unclear.
Weiyi Zeng, Konstantinos Melas, Santiago Estrada, N. Ahmad Aziz, Monique M. B. Breteler   +4 more
wiley   +1 more source

Efeito da veloplastia intravelar sobre a nasalidade em indivíduos com insuficiência velofaríngea Effect of intravelar veloplasty on nasality in patients with velopharyngeal insufficiency

Revista CEFAC, 2012
OBJETIVO: verificar o efeito da palatoplastia secundária realizada com veloplastia intravelar sobre a nasalidade e nasalância dos pacientes com fissura de palato reparada e insuficiência velofaríngea (IVF) e comparar os resultados entre estes pacientes ...
Renata Paciello Yamashita, Ester Luisa Leite Carvalho, Ana Paula Fukushiro, Neivo Luiz Zorzetto, Inge Elly Kiemle Trindade   +4 more
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