Imaging of sensorineural hearing loss: a pattern-based approach to diseases of the inner ear and cerebellopontine angle

An overview is presented of the common and uncommon diseases of the inner ear and of the cochleovestibular nerve within the internal acoustic meatus and cerebellopontine angle cistern causing sensorineural deafness

IMEP-23: The Eight WFD PAHs in Water in Presence of Humic Acid

IMEP-23 is linked to the Water Framework Directive (WFD). It studied the capability of control laboratories to measure the eight WFD PAHs in the presence of humic acid in a water matrix. Humic acid simulates natural colloidal organic matter and is known to adsorb PAHs. This gives rise to various issues that are of large importance for the control laboratories. Participants' results were benchmarked against the IMEP certified reference values. On average 80 % of the z scores was satisfactory. Zeta scores were calculated for those laboratories who provided an uncertainty estimate. These were less satisfactory and this shows that many laboratories encounter difficulties to provide a reasonable uncertainty estimate.JRC.D.4-Isotope measurement

Consensus Panel on a Cochlear Coordinate System Applicable in Histologic, Physiologic, and Radiologic Studies of the Human Cochlea

Hypothesis—An objective cochlear framework, for evaluation of the cochlear anatomy and description of the position of an implanted cochlear implant electrode, would allow the direct comparison of measures performed within the various sub-disciplines involved in cochlear implant research. Background—Research on the human cochlear anatomy in relation to tonotopy and cochlear implantation is conducted by specialists from numerous disciplines such as histologists, surgeons, physicists, engineers, audiologists and radiologists. To allow accurate comparisons between and combinations of previous and forthcoming scientific and clinical studies, cochlear structures and electrode positions must be specified in a consistent manner. Methods—Researchers with backgrounds in the various fields of inner ear research as well as representatives of the different manufacturers of cochlear implants (Advanced Bionics Corp, Med-El, Cochlear Corp) were involved in consensus meetings held in Dallas, March 2005 and Asilomar, August 2005. Existing coordinate systems were evaluated and requisites for an objective cochlear framework were discussed. Results—The consensus panel agreed upon a 3-dimensional, cylindrical coordinate system of the cochlea using the “Cochlear View” as a basis and choosing a z-axis through the modiolus. The zero reference angle was chosen at the centre of the round window, which has a close relationship to the basal end of the Organ of Corti. Conclusions—Consensus was reached on an objective cochlear framework, allowing the outcomes of studies from different fields of research to be compared directly

Guidelines in CHARGE syndrome and the missing link:Cranial imaging

"CHARGE syndrome" is a complex syndrome with high and extremely variable comorbidity. As a result, clinicians may struggle to provide accurate and comprehensive care, and this has led to the publication of several clinical surveillance guidelines and recommendations for CHARGE syndrome, based on both single case observations and cohort studies. Here we perform a structured literature review to examine all the existing advice. Our findings provide additional support for the validity of the recently published Trider checklist. We also identified a gap in literature when reviewing all guidelines and recommendations, and we propose a guideline for neuroradiological evaluation of patients with CHARGE syndrome. This is of importance, as patients with CHARGE are at risk for peri-anesthetic complications, making recurrent imaging procedures under anesthesia a particular risk in clinical practice. However, comprehensive cranial imaging is also of tremendous value for timely diagnosis, proper treatment of symptoms and for further research into CHARGE syndrome. We hope the guideline for neuroradiological evaluation will help clinicians provide efficient and comprehensive care for individuals with CHARGE syndrome

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch origin with progressive nonsyndromic hearing impairment (HI), using whole exome sequencing. One variant, c.721G > C (p.Val241Leu), occurred de novo and is predicted to affect the homeodomain of LMX1A, which is essential for DNA binding. The second variant, c.290G > C (p.Cys97Ser), predicted to affect a zinc-binding residue of the second LIM domain that is involved in protein–protein interactions. Bi-allelic deleterious variants of Lmx1a are associated with a complex phenotype in mice, including deafness and vestibular defects, due to arrest of inner ear development. Although Lmx1a mouse mutants demonstrate neurological, skeletal, pigmentation and reproductive system abnormalities, no syndromic features were present in the participating subjects of either family. LMX1A has previously been suggested as a candidate gene for intellectual disability, but our data do not support this, as affected subjects displayed normal cognition. Large variability was observed in the age of onset (a)symmetry, severity and progression rate of HI. About half of the affected individuals displayed vestibular dysfunction and experienced symptoms thereof. The late-onset progressive phenotype and the absence of cochleovestibular malformations on computed tomography scans indicate that heterozygous defects of LMX1A do not result in severe developmental abnormalities in humans. We propose that a single LMX1A wild-type copy is sufficient for normal development but insufficient for maintenance of cochleovestibular function. Alternatively, minor cochleovestibular developmental abnormalities could eventually lead to the progressive phenotype seen in the families

Answer to quiz case: Temporal bone imaging

Computed tomographic scanning of the petrous bone and magnetic resonance imaging sequences of the inner ear and cerebellopontine angle of a deaf patient were performed to find an explanation for his deafness, and to establish whether he would be a good candidate for cochlear implantation. The imaging features were considered pathognomonic for incomplete partition type III (IP type III). Further management and discussion of this deafness subtype are detailed

Improvements in High Resolution Laryngeal Magnetic Resonance Imaging for Preoperative Transoral Laser Microsurgery and Radiotherapy Considerations in Early Lesions

As the benefits, limitations, and contraindications of transoral laser microsurgery (TLM) in glottic carcinoma treatments become better defined, pretreatment imaging has become more important to assess the case-specific suitability of TLM and to predict functional outcomes both for treatment consideration and patient counseling. Magnetic resonance imaging (MRI) is the preferred modality to image such laryngeal tumors, even though imaging the larynx using MRI can be difficult. The first challenge is that there are no commercial radiofrequency (RF) coils that are specifically designed for imaging the larynx, and performance in terms of coverage and signal-to-noise ratio is compromised using general-purpose RF coils. Second, motion in the neck region induced by breathing, swallowing, and vessel pulsation can induce severe image artifacts, sometimes rendering the images unusable. In this paper, we design a dedicated RF coil array, which allows high quality high-resolution imaging of the larynx. In addition, we show that introducing respiratory-triggered acquisition improves the diagnostic quality of the images by minimizing breathing and swallowing artifacts. Together, these developments enable robust, essentially artifact-free images of the full larynx with an isotropic resolution of 1 mm to be acquired within a few minutes