Results 151 to 160 of about 570,888 (306)

Bilateral Skull Fractures in an Infant: Diagnostic Dilemma Between Accident and Abuse. [PDF]

Case Rep Pediatr
Hirade T, Koike D.
europepmc   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Robotic-Assisted Surgery in Skull-Base Procedures: Advances, Applications, and Emerging Innovations. [PDF]

Int Arch Otorhinolaryngol
Faoury M, Patel P.
europepmc   +1 more source

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

Collet-Sicard syndrome resulting from a Skull Base Paraganglioma: a case report. [PDF]

Oxf Med Case Reports
Shrestha AM, Bashyal S, Bhattarai S, Thapa L.   +3 more
europepmc   +1 more source

Rationale of New Grading System: Central Compartment Atopic Disease

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Central compartment atopic disease (CCAD) has recently been recognized as a distinct phenotype within the spectrum of type 2–dominant chronic rhinosinusitis (CRS). Although international guidelines highlight polypoid changes in the central nasal cavity, standardized diagnostic and classification criteria are still lacking.
Ramón Moreno‐Luna, Carmen Palma‐Martínez, Serafin Sánchez‐Gómez, Isam Alobid, Daniel Martin‐Jimenez, José Miguel Villacampa‐Aubá, Christian Calvo‐Henríquez, Alfonso Del Cuvillo, Alfonso Santamaría‐Gadea, Jaime González‐García, Richard J. Harvey, John M. DelGaudio   +11 more
wiley   +1 more source

Editorial: Advancing multidisciplinary approaches in skull-base tumor management. [PDF]

Front Oncol
Vozel D, Battelino S, Grašič Kuhar C, Urbančič J.   +3 more
europepmc   +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

Staged Gamma Knife radiosurgery for multicompartment skull base metastatic ameloblastoma: illustrative case. [PDF]

J Neurosurg Case Lessons
Kılıç D, Akakın A, Ekşi MŞ, Kılıç T.   +3 more
europepmc   +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