Results 71 to 80 of about 10,287 (254)

Prognostic Impact of Tumor Extension in Patients With Advanced Temporal Bone Squamous Cell Carcinoma

Frontiers in Oncology, 2020
Objective: The extreme rarity of temporal bone squamous cell carcinoma (TB-SCC) has delayed the accumulation of high-quality clinical evidence. Our objective here was to explore anatomical factors associated with the prognosis of T4 TB-SCC cases.Study ...
Noritaka Komune, Masaru Miyazaki, Kuniaki Sato, Koji Sagiyama, Akio Hiwatashi, Takahiro Hongo, Kensuke Koike, Teppei Noda, Ryutaro Uchi, Ryunosuke Kogo, Nana Akagi Tsuchihashi, Shogo Masuda, Takashi Nakagawa   +12 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Preoperative Predictors and Ossicular Involvement in Chronic Otitis Media [PDF]

International Journal of Scientific Research in Dental and Medical Sciences
Background and aim: Ossicular chain disease may occur in chronic otitis media (COM). Certain preoperative factors can predict this ossicular disruption, which can be confirmed intraoperatively and can prognosticate the surgical outcome in COM.
Mohan Ananthula, Soumya Singh
doaj   +1 more source

Morphology of the inner and peripheral ear of the loricariid catfish Pterygoplichthys gibbiceps K. [PDF]

, 2008
The morphology of the peripheral and inner ear structures was studied in the loricariid catfish Pterygoplichthys gibbiceps. Specimens (n=6) were preserved in fixative (4% paraformaldehyde, 2% glutaraldehyde in 0.1M phosphate buffer) and dissected for ...
Rodgers, Brian David
core   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

A Study of Ossiculoplasty in Chronic Otitis Media using different types of Prostheses

Bengal Journal of Otolaryngology and Head Neck Surgery, 2013
Introduction: A wide range of prostheses, autologus and synthetic are available for use these days. Ideally, the ossicular reconstruction prosthesis should be biocompatible, safe, easy to handle and capable of efficient sound transmission.
Parthapratim Laha, B. K. Prasad
doaj  

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

Cochlear-bone wave can yield a hearing sensation as well as otoacoustic emission

, 2014
A hearing sensation arises when the elastic basilar membrane inside the cochlea vibrates. The basilar membrane is typically set into motion through airborne sound that displaces the middle ear and induces a pressure difference across the membrane.
Reichenbach, T., Tchumatchenko, T.
core   +1 more source