Results 81 to 90 of about 344,405 (242)

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Ontogenetic development of weberian ossicles and hearing abilities in the African bullhead catfish.

PLoS ONE, 2011
BackgroundThe weberian apparatus of otophysine fishes facilitates sound transmission from the swimbladder to the inner ear to increase hearing sensitivity. It has been of great interest to biologists since the 19(th) century.
Walter Lechner, Egon Heiss, Thomas Schwaha, Martin Glösmann, Friedrich Ladich   +4 more
doaj   +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

Extent of Sinus Surgery Is Associated With Disease Control in Biologic Treated Type 2 Dominant CRS

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background A greater benefit of biologics is observed after surgery in Type 2 chronic rhinosinusitis with nasal polyps (CRSwNP). However, the extent of surgery remains undefined in many studies. This study evaluated the extent of surgery on disease control in patients receiving biologics for refractory Type 2 dominant CRSwNP.
Nicholas J. Campion, Peta‐Lee Sacks, Lu Hui Png, Ruoxin Hua, Rhea Darbari Kaul, Raquel Alvarado, Christine Choy, Raymond Sacks, Peter Earls, Raewyn G. Campbell, Larry Kalish, Richard J. Harvey   +11 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

Inner ear ossification and mineralization kinetics in human embryonic development - microtomographic and histomorphological study

Scientific Reports, 2017
Little is known about middle and inner ear development during the second and third parts of human fetal life. Using ultra-high resolution Microcomputed Tomography coupled with bone histology, we performed the first quantitative middle and inner ear ...
Céline Richard, Guillaume Courbon, Norbert Laroche, Jean Michel Prades, Laurence Vico, Luc Malaval   +5 more
doaj   +1 more source

North American Delphi Consensus Study on Sinonasal Malignancy Survivorship Care

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Survival for patients with sinonasal cancers has improved over the past decades, but there are no dedicated survivorship guidelines for this cohort. Objective To understand experts’ priorities and perspectives on key survivorship tenets (surveillance, second tumor screening, toxicity, and symptom management).
Matheus Sewastjanow‐Silva, Samagra Jain, Rita Snyder, Erin L. McKean, Ralph Abi Hachem, Nithin D. Adappa, J. Ken Byrd, Ricardo L. Carrau, Marc A. Cohen, Ivan H. El‐Sayed, Mathew N. Geltzeiler, Ehab Y. Hanna, Edward C. Kuan, Nyall R. London Jr., Zoukaa B. Sargi, Carl H. Snyderman, Marilene B. Wang, Ian J. Witterick, Shirley Y. Su   +18 more
wiley   +1 more source

Early Versus Late Recurrence in Olfactory Neuroblastoma: A Multi‐Institutional Analysis of Predictive Risk Factors

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory neuroblastoma (ONB) exhibits variable recurrence patterns, with significant late recurrences occurring years after treatment. We investigated cutoff periods to define late recurrence and identified predictors that distinguish patients at risk of late recurrence from those considered cured.
Alexandria Harris, Anthony Tang, Nicholas Fung, Joao Paulo Almeida, Pierre‐Olivier Champagne, Juan Fernandez‐Miranda, Paul A. Gardner, Peter Hwang, Aristotelis Kalyvas, Chirag Patel, Zara M. Patel, Maria Peris Celda, Carlos D. Pinheiro‐Neto, Olabisi Sanusi, Carl H. Snyderman, Brian D. Thorp, Jamie J. Van Gompel, Georgios Zenonos, Nathan T. Zwagerman, Diana Bell, Edward C. Kuan, Eric W. Wang, Mathew Geltzeiler, Garret Choby   +23 more
wiley   +1 more source

Assessing Surgical Extent Before Biologic Therapy for CRSwNP

International Forum of Allergy &Rhinology, EarlyView.
Key points Nearly two‐thirds of patients had no surgery or incomplete sinus surgery before biologics. Among all sinuses, the frontal sinus was the least frequently addressed before biologics.
Alison J. Yu, Kristina A. LaPointe, Kaitlyn Ann Roberts, Michelle Yu, James N. Palmer, Alan D. Workman, Jose L. Mattos, Rodney J. Schlosser, Zachary M. Soler   +8 more
wiley   +1 more source

Healing Following Endoscopic Reconstruction of the Anterior Skull Base in Patients With Sinonasal Malignancies

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Healing dynamics after anterior skull base (ASB) reconstruction following transnasal endoscopic surgery (TES) for sinonasal malignancies remain poorly characterized. This study aimed to describe the postoperative healing process, quantify time to healing, identify factors influencing healing, and assess radiologic evolution over ...
Giacomo Contro, Leonardo Calvanese, Piergiorgio Gaudioso, Stefano Taboni, Mosè Sozzi, Gloria Schiavo, Alessandra Sordi, Isabelle Dohin, Francesca Mularoni, Giuseppe Roccuzzo, Ester Orlandi, Barbara Vischioni, Gianluca Dalfino, Carlotta Pessina, Roberto Maroldi, Mario Turri‐Zanoni, Cesare Piazza, Paolo Battaglia, Maurizio Bignami, Paolo Castelnuovo, Davide Mattavelli, Piero Nicolai, Marco Ferrari   +22 more
wiley   +1 more source