Citations

Objective: To describe a novel case of congenital profound bilateral sensorineural hearing loss in a patient with bilateral nodular internal auditory canal and labyrinthine enhancement and temporal bone dysplasia. Patients: A 76-day-old female was referred to the authors’ center for evaluation of congenital deafness. Behavioral observations and objective audiometric evaluation demonstrated bilateral profound sensorineural hearing loss and a comprehensive multidisciplinary evaluation identified compound heterozygous pathogenic variants in MYO7A , a gene associated with Usher Syndrome Type 1B or DFNB2. Computed tomography and contrast-enhanced magnetic resonance imaging studies demonstrated bilateral temporal bone anomalies with unique middle and inner ear malformations, as well as unique contrast enhancement in the membranous labyrinth, internal auditory canals, and cranial nerves, which have not been previously described with MYO7A variants. Interventions: Given the potential risk for progressive bilateral labyrinthitis ossificans, bilateral simultaneous cochlear implantation was performed at 4 months of age. Main Outcome Measures: Subsequent audiologic follow up after implantation shows significantly improved access to auditory information and increased vocalizations. At last testing, speech and language skills for both receptive and expressive language abilities were found to be commensurate with her chronological age. Conclusion: We report a novel presentation and imaging findings of congenital bilateral profound sensorineural hearing loss in a patient with nodular internal auditory canal and labyrinthine enhancement and coexisting inner ear dysplasia. Despite the multiple radiologic abnormalities, the patient has demonstrated good benefit from cochlear implantation. Future study of rare variants of congenital deafness, such as this, is critical toward defining new disease processes and determining optimal treatment.

Purpose To describe a model‐based reconstruction strategy for single‐shot echo planar imaging (EPI) that intrinsically accounts for k‐space nonuniformity, Nyquist ghosting, and geometric distortions during rather than before or after image reconstruction. Methods Ramp sampling and inhomogeneous B0 field‐induced distortion cause the EPI samples to lie on a non‐Cartesian grid, thus requiring the nonuniform fast Fourier transform. Additionally, a 2D Nyquist ghost phase correction without the need for extra navigator acquisition is included in the proposed reconstruction. Coil compression is also incorporated to reduce the computational load. The proposed method is applied to phantom and human brain MRI data. Results The results demonstrate that Nyquist ghosting and geometric distortions are reduced by the proposed reconstruction. The proposed 2D phase correction is superior to a conventional 1D correction. The reductions of both artifacts lead to improved temporal signal‐to‐noise ratio (tSNR). The virtual coil results suggest that the processing time can be reduced by up to 75%, with a mean tSNR loss of only 3.2% when using 8‐virtual instead of 32‐physical coils for twofold undersampled data. Conclusion The proposed reconstruction improves the quality (ghosting, geometry, and tSNR) of EPI without requiring calibration data for Nyquist ghost correction. Magn Reson Med 78:2250–2264, 2017. © 2017 International Society for Magnetic Resonance in Medicine.

Febrile infection‐related epilepsy syndrome (FIRES) is a devastating epileptic encephalopathy with limited treatment options and an unclear etiology. Anakinra is a recombinant version of the human interleukin‐1 receptor antagonist used to treat autoinflammatory disorders. This is the first report of anakinra for treatment of a child with super‐refractory status epilepticus secondary to FIRES. Anakinra was well tolerated and effective. Cerebral spinal fluid analysis revealed elevated levels of proinflammatory cytokines before treatment that normalized on anakinra, suggesting a potential pathogenic role for neuroinflammation in FIRES. Further studies are required to assess anakinra efficacy and dosing, and to further delineate disease etiology. Ann Neurol 2016;80:939–945

Key Points The incidence of mutations within the MAPK pathway, the CRBN pathway, and TP53 is significantly increased in drug-refractory MM. Mutations in CRBN might contribute to IMiD resistance in drug-refractory MM.

AbstractKidney transplant (KT) programs have extended recipient eligibility to those who were previously excluded due to advanced age. We aimed to determine the outcomes of the patients ≥70 years undergoing KT and investigate factors predicting survival. Two thousand six hundred and twenty‐four KT patients between 2003 and 2013 at two institutions were divided into two groups; those ≥70 years (n=300) and those <70 years (n=2324) at the time of KT. Patient survival at 1, 3, and 5 years was 95%, 86%, and 77% in ≥70 years of age group and 98%, 95%, and 90% in the <70 years group (P<.001). When graft loss due to death was censored, graft survival was not significantly different between the two groups (P=.18). On multivariable analysis, the significant predictors of inferior survival in patients ≥70 years included: body mass index (BMI)>30 kg/m2 (hazard ratio [HR] 1.07; P=.01), panel reactive antibody (PRA)>20% (HR 2.38; P=.01), previous coronary artery bypass grafting (CABG; HR 1.95; P=.03) and peripheral vascular disease (PVD; HR 2.60; P=.04). Acceptable outcomes can be achieved in KT recipients ≥70 years. Caution should be used when listing these patients if they have BMI>30 kg/m2, PRA>20%, CABG or PVD.

Introduction Vertebral artery injury is a rare but serious complication of cervical spine surgery with an overall incidence rate of 1.4% (Rampersaud, 2006). Iatrogenic injury of the vertebral artery can lead to serious complications including lateral medullary (Wallenberg) syndrome, quadriparesis, and mortality. The high rate of vertebral artery anomalies in the general population mandates assessment via advanced imaging modalities in the preoperative period (Schroeder, 2013). The rarity of this complication makes it difficult to set expectations after an injury is encountered. This study utilized a multi-center database to compile outcomes data after vertebral artery injury during a cervical spine procedure. Materials and Methods A multi-center retrospective case series was compiled involving 23 medical institutions. Inclusion criteria included patients who underwent cervical spine surgery between 2005–2011 and who sustained a vertebral artery injury. IRBs were obtained from all institutions and data was sent to a private research organization that collected and collated all of the data. Patients were evaluated on the basis of condition-specific functional status using the Neck Disability Index (NDI), modified Japanese Orthopaedic Association (mJOA) score, the Nurick scale, and the 36-Item Short-Form Health Survey (SF-36). Results Vertebral artery injuries were identified in a total of 14 of 16,582 total patients screened (8.4 per 10,000). The mean age of patients with vertebral artery injury was 59 years (+/− 10) with a female predominance (78.6%). Diagnoses of affected patients included 7 with myelopathy, 3 with radiculopathy, 1 with cervical instability, and 2 with metastatic disease. The mean duration of operative time for cases was 4.7 hours (+/− 1.8). Vertebral artery injury was also associated with substantial blood loss (770 mL), although only 3 cases required transfusion. Of the 14 cases, 7 occurred with an anterior only approach, 3 cases with posterior only approach, and 4 during circumferential approach. Average length of hospital stay for these patients was 10 days (+/− 8). Notably, 13 of the 14 (92.86%) cases reportedly resolved without residual deficits. Compared with preoperative baseline NDI, Nurick, and SF-36 physical and mental component scores for these patients, there were no observed changes after surgery ( p = 0.20 Ð 0.94). Conclusion Vertebral artery injuries are potentially catastrophic complications that can be sustained from either anterior or posterior cervical spine approaches. This adverse event is associated with an increase in hospital stay and functional disability measured on NDI score. However, the data from this study suggests that with proper steps to ensure hemostasis, patients recover function at a high rate and do not exhibit residual deficits (13 out of 14). Preoperative imaging studies may provide insight into VA anomalies and anatomic variations and are vital to the preoperative assessment. Furthermore, although surgeons should expect increased blood loss once a vertebral artery injury is encountered, patients do not often require a blood transfusion.