Results 141 to 150 of about 1,745,644 (354)

Sacroiliac Joint Involvement: An Underreported Complication of NF1

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NF1‐related bone dysplasia in children and young adults with neurofibromatosis type 1 (NF1) involving the sacroiliac joint has been rarely described. We report four participants who underwent whole‐body magnetic resonance imaging (WB‐MRI) as part of a longitudinal imaging and plexiform neurofibroma (PN) biomarker study (NCT05238909) at Ann ...
Jenny P. Garzon   +6 more
wiley   +1 more source

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit   +16 more
wiley   +1 more source

Targeted Medical Therapies for Vascular Anomalies: A Clinical Review

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Vascular anomalies represent a broad spectrum of disorders characterized by aberrant blood or lymphatic vessel development, which can lead to complex clinical phenotypes. Historically, vascular anomalies were classified solely on the basis of their clinical and histopathologic features.
Whitney Eng
wiley   +1 more source

Chance fracture: A case report and review of the literature

open access: yesRadiology Case Reports
A Chance fracture, also known as a “seatbelt fracture,” is “an unstable spinal injury that usually occurs at the thoracolumbar junction. Complications of a Chance fracture include spinal cord injury, neurological deficits, and long-term functional ...
Levi Elhadad   +4 more
doaj   +1 more source

Transcatheter arterial embolization for hemothorax caused by spinal fracture without arterial injury: a case report and review of the literature. [PDF]

open access: yesJ Med Case Rep, 2022
Matsunaga N   +10 more
europepmc   +1 more source

Biocompatibility and healing patterns in experimentally induced canine tibial fractures using Pedicle screw‐Rod external fixation

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study demonstrates that using a Pedicle screw‐Rod configuration for the external fixation of non‐articular tibial osteotomy aligns well with the principles of biological osteosynthesis, resulting in secondary bone healing characterized by callus formation and neovascularization.
Mohammad Mahdi Gooran   +3 more
wiley   +1 more source

A multilevel noncontiguous spinal fracture with cervical and thoracic spinal cord injury. [PDF]

open access: yesInt J Surg Case Rep, 2021
Sugandhavesa N   +3 more
europepmc   +1 more source

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