Results 151 to 160 of about 1,193,714 (290)

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

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

open access: yesInternational 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   +23 more
wiley   +1 more source

Surgical Management of a Massive Frontal Bone Hemangioma: Case Report. [PDF]

open access: yesJ Neurol Surg Rep, 2022
Bird CE   +6 more
europepmc   +1 more source

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

open access: yesInternational 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   +22 more
wiley   +1 more source

A Case of Telangiectatic Osteosarcoma in the Frontal Bone. [PDF]

open access: yesNMC Case Rep J, 2021
Takeuchi Y   +4 more
europepmc   +1 more source

Early Endoscopic Repair of Traumatic Skull Base Dural Injuries: Challenging the Dogma of Conservative Management

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction Traditional management of traumatic skull base dural injury has often favored observation and conservative therapy, despite the risk of delayed intracranial complications. This paradigm originated when operative intervention required craniotomy and carried significant morbidity.
Jessica W. Grayson   +9 more
wiley   +1 more source

Case Report: Langerhans Cell Sarcoma With Intracranial and Extracranial Communication on the Left Frontal Bone. [PDF]

open access: yesFront Surg, 2022
Xie S   +8 more
europepmc   +1 more source

Development and Reliability Testing of the Sinonasal Assessment of Reepithelialization, a Novel Wound Healing Scale to Assess Postoperative Healing

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Sinus and skull base surgery create areas of demucosalized bone and cartilage in the sinonasal cavity, yet no standardized system exists to describe the progressive healing of these wounds. The goal of this study was to develop the novel Sinonasal Assessment of Reepithelialization (SNARE) and perform parametric testing including ...
Rohan Bellary   +20 more
wiley   +1 more source

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