Results 131 to 140 of about 409,560 (246)

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Feline inflammatory aural polyps: a retrospective imaging-based evaluation. [PDF]

Front Vet Sci
Demirutku A, Bektaş Bilgiç E.
europepmc   +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

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

Identification of QTLs and new candidate genes affecting ear shank length via BSA-seq and transcriptomic analysis in maize. [PDF]

Front Plant Sci
An H, Li K, Liu X, Wu Y, He J, Wang Y, Gao Z.   +6 more
europepmc   +1 more source

The Global Airways in Practice: Long‐term Effects of Mepolizumab With or Without FESS on Type 2 Inflammation in Patients With CRSwNP

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) is a type 2 inflammatory disease often associated with asthma. The global airway hypothesis suggests bidirectional inflammatory interactions between upper and lower airways. Mepolizumab, an anti–IL‐5 therapy, treats conditions systemically, while functional endoscopic sinus surgery ...
Jens Tidemandsen, Vibeke Backer, Anne Sophie Homøe, Thomas H. L. Jensen, Kasper Aanæs, Howraman Meteran, Morten Hostrup, Lukas Moesgaard, Christiane Haase, Peter G. Gibson   +9 more
wiley   +1 more source

Microtia in All the Siblings of a Family: A Rare Case [PDF]

Journal of Clinical and Diagnostic Research, 2017
Somashekar Gejje, Brijesh Mishra, Amrita Anandkumar Hongal   +2 more
doaj   +1 more source

Effect and Threshold of Endoscopic Findings for CRS Control Status and Long‐Term Outcome Prediction

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background EPOS 2020 defined chronic rhinosinusitis (CRS) disease control using patient symptoms and medication usage but endoscopic findings were considered optional. The effect of adding endoscopic features, an appropriate threshold, and their association with present or future symptom control have not been studied.
Steven Chun‐Kang Liao, Aditi Agarwal, Junqin Bai, Zhidi Luo, Siyuan Dong, Regan L. Harmon, Brooke N. Gleason, Julia Huang, David B. Conley, Kevin C. Welch, Stephanie Shintani‐Smith, Robert C. Kern, Atsushi Kato, Lutfiyya N. Muhammad, Bruce K. Tan   +14 more
wiley   +1 more source

Mechanisms of Mitochondrial Toxicity and Cytotoxicity Caused by Pseudomonas aeruginosa Pyocyanin in Human Nasal Epithelial Cells

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Pseudomonas aeruginosa is an opportunistic pathogen in cystic fibrosis‐related chronic rhinosinusitis (CF‐CRS) that produces phenazine metabolites pyocyanin and 1‐hydroxyphenazine (1‐HP), which may have detrimental effects on mitochondria, reactive oxygen species (ROS), Ca2+ signaling, and apoptosis.
Joel C. Thompson, April Park, Yobouet Ines Kouakou, Zoey A. Miller, Nabil F. Darwich, Nithin D. Adappa, James N. Palmer, Ryan M. Carey, Robert J. Lee   +8 more
wiley   +1 more source

Early and Sustained Improvements in Sense of Smell With Tezepelumab Treatment in Patients With Chronic Rhinosinusitis With Nasal Polyps (WAYPOINT)

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Loss of smell is a principal symptom of chronic rhinosinusitis with nasal polyps (CRSwNP), affecting health‐related quality of life and posing a safety hazard. Methods WAYPOINT (NCT04851964), a phase 3, multicenter trial in adults with uncontrolled CRSwNP, randomized patients 1:1 to receive tezepelumab 210 mg or placebo ...
Joaquim Mullol, Joseph K. Han, Tanya M. Laidlaw, Claire Hopkins, Anju T. Peters, Oliver Pfaar, Martin Desrosiers, Stella E. Lee, Andrew P. Lane, Claudia Chen, Yun Chon, Sandhia S. Ponnarambil, Andrew Foster, Andrew W. Lindsley, Christopher S. Ambrose   +14 more
wiley   +1 more source