Atlanto‐odontoid pyogenic arthritis revealing a Jugular Vein Thrombosis

Pyogenic arthritis of the atlantoaxial joint is scarce. It can lead to several complications, such as spinal cord compression and cerebral vein thrombosis. A 51‐year‐old man presented with a twenty‐day history of inflammatory neck pain. Physical examination revealed paravertebral muscle contracture, restricted neck movement, and fever. Spine magnetic resonance imaging (MRI) showed synovitis of atlanto‐odontoid joint, anterior epidural collection, and cerebral vein thrombosis. Transthoracic echocardiography was unremarkable. The patient was successfully treated with anti‐staphylococcal antibiotic treatment for 12 weeks associated with immobilization of the cervical spine. MRI performed one month after the initiation of the treatment showed disappearance of the epidural collection. The diagnosis of septic arthritis of the atlantoaxial joint should be considered in a patient with inflammatory neck pain. MRI findings are relevant in making the diagnosis of a septic atlanto‐odontoid joint. Conservative treatment, including antibiotic and neck immobilization, can be sufficient for the treatment of pyogenic arthritis of the atlantoaxial joint. Cerebral vein thrombosis is a rare complication due to septic arthritis of the atlantoaxial joint.     

Development of new postnatal diagnostic methods for chromosome disorders

Chromosome imbalances are the leading cause of intellectual and developmental disabilities in the population. This paper reviews the current methods used to diagnose chromosome abnormalities in children including karyotyping, fluorescence in situ hybridization and microarray technologies. Advances in molecular cytogenetics, especially with the use of microarrays, have substantially increased the detection of chromosome abnormalities in children with disabilities and congenital anomalies above that achievable with conventional cytogenetic banding and light microscopy.     

Medical image denoising using one-dimensional singularity function model

A novel denoising approach is proposed that is based on a spectral data substitution mechanism through using a mathematical model of one-dimensional singularity function analysis (1-D SFA). The method consists in dividing the complete spectral domain of the noisy signal into two subsets: the preserved set where the spectral data are kept unchanged, and the substitution set where the original spectral data having lower signal-to-noise ratio (SNR) are replaced by those reconstructed using the 1-D SFA model. The preserved set containing original spectral data is determined according to the SNR of the spectrum. The singular points and singularity degrees in the 1-D SFA model are obtained through calculating finite difference of the noisy signal. The theoretical formulation and experimental results demonstrated that the proposed method allows more efficient denoising while introducing less distortion, and presents significant improvement over conventional denoising methods.     

CSF beta-amyloid 1-42 and tau in Tunisian patients with Alzheimer's disease: the effect of APOE epsilon4 allele

Alzheimer's disease (AD) is the leading cause of dementia. Currently, no definitive diagnostic test for AD exists. An accurate, convenient and objective test to detect AD is urgently needed for efficient drug development and effective clinical use of emerging therapies. The aim of the present work is to investigate the usefulness of cerebrospinal fluid (CSF) beta-amyloid protein (Abeta1-42) and total tau protein (t-tau) analyses in the diagnosis of AD and whether apolipoprotein E (ApoE) epsilon4 allele is a factor for AD affecting Tunisian people. Abeta1-42 and t-tau levels were measured in CSF from AD patients (n=73), non-Alzheimer dementia (nAD, n=35) and healthy controls (HC, n=38) by sandwich enzyme-linked immunosorbent assay. Abeta1-42 levels were decreased and t-tau increased in AD patients. The combination of Abeta1-42 and t-tau at baseline yielded a sensitivity of 87.4% for detection of AD. The specificities were 97.3% for controls and 82.7% for other dementia. The ApoE epsilon4 allele frequency (29.5%) was significantly higher in the AD patients than in the nAD patients (17.1%) or in the control groups (9.5%). AD patients carrying ApoE epsilon4 allele had lower Abeta1-42 (p<0.001) levels than those without a epsilon4 allele. The combination of t-tau and Abeta1-42 is a robust and reliable assay that may be useful in discriminating cases at risk for AD such as ApoE epsilon4 allele carriers from nAD patients or from age-matched control subjects.     

Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation

Two patients with partial deletions of the long arm of chromosome 13, del(13)(13q21-q34) and del(13)(13q22-q33), respectively, multiple congenital anomalies including holoprosencephaly (HPE) and the Dandy-Walker malformation (DWM) are described. The occurrence of HPE and the DWM in both of these patients suggests that, in addition to ZIC2, which is important for normal development of the forebrain, there is at least one other dosage-sensitive gene in 13q22-q33 that plays an important role in brain development. The DWM is anatomically and developmentally distinct from HPE. The presence of a DWM in each of these two patients with partial deletions of the long arm of chromosome 13 suggests that haploinsufficiency at a locus in 13q22-q33 may cause this anomaly. These findings suggest that microdeletions in 13q22-q33 may be found in a proportion of patients with an apparently isolated DWM. Therefore, careful high-resolution cytogenetic analysis (550 band level or greater) of 13q22-q33 may be considered in these patients. Furthermore, future molecular studies of this region may reveal candidate gene loci for the DWM.     

Cardiac and respiratory double self-gated cine MRI in the mouse at 7 T.

ECG-gated cardiac MRI in the mouse is hindered by many technical difficulties in ECG signal recording inside static and variable high magnetic scanner fields. The present study proposes an alternative robust method of acquiring auto-gated cardiac and respiratory cine images in mouse heart. In our approach, a motion synchronization signal is extracted from the echo peak MR signal of a non-triggered radial acquisition. This signal is then used for both cardiac and respiratory retrospective gating before cine image reconstruction. Highly asymmetric echoes were acquired to achieve the radial k-space sampling in order to avoid radial acquisition related artifacts and to increase auto-gating robustness. In vivo experiments demonstrated the feasibility and robustness of self-gated cine-MRI in the mouse heart at 7T. The signal-to-noise and contrast-to-noise ratios of the self-gated and ECG-gated images were comparable, all parameters being equal. Magn Reson Med, 2006. (c) 2006 Wiley-Liss, Inc.