The Spitzer discovery of a galaxy with infrared emission solely due to AGN activity

We present a galaxy (SAGE1CJ053634.78-722658.5) at a redshift of 0.14 of which the IR is entirely dominated by emission associated with the AGN. We present the 5-37 um Spitzer/IRS spectrum and broad wavelength SED of SAGE1CJ053634, an IR point-source detected by Spitzer/SAGE (Meixner et al 2006). The source was observed in the SAGE-Spec program (Kemper et al., 2010) and was included to determine the nature of sources with deviant IR colours. The spectrum shows a redshifted (z=0.14+-0.005) silicate emission feature with an exceptionally high feature-to-continuum ratio and weak polycyclic aromatic hydrocarbon (PAH) bands. We compare the source with models of emission from dusty tori around AGNs from Nenkova et al. (2008). We present a diagnostic diagram that will help to identify similar sources based on Spitzer/MIPS and Herschel/PACS photometry. The SED of SAGE1CJ053634 is peculiar because it lacks far-IR emission and a clear stellar counterpart. We find that the SED and the IR spectrum can be understood as emission originating from the inner ~10 pc around an accreting black hole. There is no need to invoke emission from the host galaxy, either from the stars or from the interstellar medium, although a possible early-type host galaxy cannot be excluded based on the SED analysis. The hot dust around the accretion disk gives rise to a continuum, which peaks at 4 um, whereas the strong silicate features may arise from optically thin emission of dusty clouds within ~10 pc around the black hole. The weak PAH emission does not appear to be linked to star formation, as star formation templates strongly over-predict the measured far-IR flux levels. The SED of SAGE1CJ053634 is rare in the local universe but may be more common in the more distant universe. The conspicuous absence of host-galaxy IR emission places limits on the far-IR emission arising from the dusty torus alone.Comment: Accepted for publication in A&A, 7 pages, 6 figure

Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).

PURPOSE. Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis. It has been demonstrated that CFEOM1 results from mutations in KIF21A and CFEOM2 from mutations in PHOX2A. This study was conducted to determine the incidence of KIF21A and PHOX2A mutations among individuals with the third CFEOM phenotype, CFEOM3. METHODS. All pedigrees and sporadic individuals with CFEOM3 in the authors' database were identified, whether the pedigrees were linked or consistent with linkage to the FEOM1, FEOM2, and/or FEOM3 loci was determined, and the appropriate pedigrees and the sporadic individuals were screened for mutations in KIF21A and PHOX2A. RESULTS. Twelve CFEOM3 pedigrees and 10 CFEOM3 sporadic individuals were identified in the database. The structures of eight of the pedigrees permitted the generation of meaningful linkage data. KIF21A was screened in 17 probands, and mutations were identified in two CFEOM3 pedigrees. One pedigree harbored a novel mutation (2841G-->A, M947I) and one harbored the most common and recurrent of the CFEOM1 mutations identified previously (2860C-->T, R954W). None of CFEOM3 pedigrees or sporadic individuals harbored mutations in PHOX2A. CONCLUSIONS. The results demonstrate that KIF21A mutations are a rare cause of CFEOM3 and that KIF21A mutations can be nonpenetrant. Although KIF21A is the first gene to be associated with CFEOM3, the results imply that mutations in the unidentified FEOM3 gene are the more common cause of this phenotype

Persistent pseudomyopia following a whiplash injury in a previously emmetropic woman

Purpose: Accommodative spasm, which manifests as ciliary muscle spasm, convergent strabismus or miosis, is a recognised consequence of head trauma. In whiplash cases, cervical spine hyperextension poses a risk of contra-coup injury and brainstem trauma, and is known to affect the visual system. However, to date, no cases of accommodative spasm due to whiplash injury have been reported. Observations: We present the case of a 34-year-old female who developed sudden onset blurred distance vision after a rear impact car crash, having previously been emmetropic. Her unaided distance visual acuity was 20/70 in the right eye and 20/20 in the left. Best-corrected visual acuity in the right eye was 20/20 with a correction that progressed from −1.75 to −3.50 DS over the 12 months following the accident. This patient's sudden unilateral myopia, with unilaterally increased amplitude of accommodation suggests pseudomyopia due to accommodative spasm. Magnetic resonance imaging showed no evidence of injury to her brain stem, frontal lobes or oculomotor nerve. The patient is now well adjusted with a −3.50DS corrective lens for the right eye. Conclusions and importance: The accommodation reflex is susceptible to injury at the occipital lobe, frontal eye fields, Edinger-Westphal nuclei and oculomotor nerves. As such it should be examined in patients who present with visual disturbances following whiplash injury. It is important that such cases are identified at presentation, as early intervention can improve outcomes in accommodative spasm and reduce the long term psychological effects often associated with whiplash injuries