Results 141 to 150 of about 94,270 (265)

Osia Implantation in Patients With Prior Craniotomy for Skull Base Tumors. [PDF]

open access: yesOtolaryngol Head Neck Surg
Nowlen FM   +5 more
europepmc   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes   +5 more
wiley   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto   +5 more
wiley   +1 more source

From Syncope to Stroke: Vascular Complications of Skull Base Paraganglioma. [PDF]

open access: yesEur J Case Rep Intern Med
Govil D, Barodi B, Hammad S, Marshall M.
europepmc   +1 more source

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

open access: yesAmerican 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   +7 more
wiley   +1 more source

A Comparison of Frailty Indices in Predicting Postoperative Outcomes After Endoscopic Sinus Surgery

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
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

North American Delphi Consensus Study on Sinonasal Malignancy Survivorship Care

open access: yesInternational 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   +18 more
wiley   +1 more source

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