https://ogma.newcastle.edu.au/vital/access/ /manager/Index en-au 5 https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:644 T/R66X, was detected in one family and four sporadic patients. The majority of mutations (26/33) were located in exons 2 and 3 of the EFNB1 gene encoding the extracellular ephrin domain. The mutation spectrum includes frameshift, nonsense, missense, and splice site mutations, with a predominance of frameshift and nonsense mutations resulting in premature truncation codons. For the first time we describe mutations in exons 4 and 5 of EFNB1. Of particular interest are the frameshift mutations located in the last 25 codons of EFNI3 I encoding the carboxyterminal end of ephrin-B1. They result in an extension by 44 residues. These mutations disrupt the intracellular binding sites for Grb4 and PDZ-effector proteins involved in reverse signaling. We conclude that the major causes of familial as well as sporadic CFNS are loss of function mutations in the EFNB1 gene that comprise premature termination or abrogate receptor-ligand interaction, oligomerization, and ephrin-B1 reverse signaling.]]> Thu 25 Jul 2013 09:10:36 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:52810  3 months and age- and sex-matched asymptomatic controls, muscle volumes of levator scapulae, multifidus including semispinalis cervicis (MFSS), semispinalis capitis, splenius capitis including splenius cervicis (SCSC), sternocleidomastoid and longus colli from C3 through T1 were quantified from magnetic resonance imaging. Between-group differences were determined using linear mixed models, accounting for side (left or right), muscle, spinal level, sex, age, and body mass index (BMI). Individuals with pain had greater muscle volume (mean difference 76.8mm3; 95% CI 26.6–127.0; p = .003) and MFI (2.3%; 0.2–4.5; p = .034) of the MFSS compared to matched controls with no differences in relative volume, accounting for factors associated with the outcomes: muscle, spinal level, side (left had smaller volume, relative volume and MFI than right), sex (females had less volume and relative volume than males), age (older age associated with less relative volume and greater MFI), and BMI (higher BMI associated with greater muscle volume and MFI). Greater MFI in individuals with chronic idiopathic neck pain suggests a possible underlying mechanism contributing to neck pain. Perspective: These findings suggest MFI in the MFSS may be radiologic sign, potentially identifying patients with a less favourable prognosis. Future studies are needed to confirm this finding and determine if MFI is a contributor to the development or persistence of neck pain, or consequence of neck pain.]]> Fri 27 Oct 2023 15:44:23 AEDT ]]>