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 +7 more
wiley +1 more source
Editorial: Advancing multidisciplinary approaches in skull-base tumor management. [PDF]
Vozel D +3 more
europepmc +1 more source
ABSTRACT Introduction Chronic rhinosinusitis (CRS) is an inflammatory disease with many different contributing factors, including bacterial infection. CRS patients are typically managed with medical therapies; however, these treatments frequently fail, leaving surgery as the only viable option.
Sintayehu Ambachew +8 more
wiley +1 more source
Skull base granulomatosis with polyangiitis presenting with multiple cranial neuropathies. [PDF]
Monteiro JMA +4 more
europepmc +1 more source
Extent of Sinus Surgery Is Associated With Disease Control in Biologic Treated Type 2 Dominant CRS
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 +11 more
wiley +1 more source
Quality of life in Slovenian patients with skull base tumours: cross-cultural adaptation and validation of a Slovenian skull base inventory. [PDF]
Vozel D +6 more
europepmc +1 more source
A Comparison of Frailty Indices in Predicting Postoperative Outcomes After Endoscopic Sinus Surgery
ABSTRACT Objective To compare the discriminatory performance of the Risk Analysis Index (RAI) and modified Frailty Index‐5 (mFI‐5) in predicting postoperative outcomes following endoscopic sinus surgery (ESS). Study Design Retrospective cohort study. Methods Adult ESS patients were identified from the ACS‐NSQIP database (2005–2020).
Akshay Warrier +6 more
wiley +1 more source
Clinical Outcome of Extended Endoscopic Endonasal Transclival Approach for Skull Base Lesions. [PDF]
Vargas-Moreno A +7 more
europepmc +1 more source
Chordoma of the Base of the Skull [PDF]
openaire +2 more sources
North American Delphi Consensus Study on Sinonasal Malignancy Survivorship Care
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 +18 more
wiley +1 more source

