T1 and T2 measurements on a 1.5-T commercial MR imager

In order for relaxation times to be used in clinical diagnosis, the precision of the measurement must be determined. The authors measured T1, T2, and proton density in a phantom and in human volunteers to determine the reproducibility of the method. The coefficient of variance of T1 measurements in the phantom during a 15-month period with two software upgrades was 5%. Variance of T2 measurements with any given software was 4% or less, and overall in the 15-month period, with two software changes, the T2 reproducibility was between 6% and 9%. The reproducibility is sufficiently high that precise clinical measurements of T1, T2, and proton density are feasible.     

Effect of axial loading on neural foramina and nerve roots in the lumbar spine

The hypothesis that the neural foramina in some patients are critically narrowed by axial compression of the spine has not been studied with direct imaging techniques. Frozen cadaveric motion segments of the lumbar spine (intervertebral disk and contiguous vertebrae) were imaged with computed tomography (CT). The segments were thawed and compressed in a hydrostatic press to simulate axial loading, and then the segments were frozen and imaged again. The motion segments were subsequently sectioned with a cryomicrotome, and the chronic degenerative changes present in the disks were classified. Pre- and post-compression CT images were compared, and anatomic relationships were studied. In 41 randomly selected segments (some with preexisting radial, transverse, and concentric annular tears), compression diminished the diameters and cross-sectional areas of the spinal canal and neural foramina. In no cases were nerve roots displaced, distorted, or compressed by axial loading. This study suggests that axial loading, such as that produced by ordinary weight bearing, does not critically compromise the neural foramina even in the presence of chronic degenerative disk changes.     

Parental phonological memory contributes to prediction of outcome of late talkers from 20 months to 4 years: a longitudinal study of precursors of specific language impairment

Background

Many children who are late talkers go on to develop normal language, but others go on to have longer-term language difficulties. In this study, we considered which factors were predictive of persistent problems in late talkers.

Methods

Parental report of expressive vocabulary at 18 months of age was used to select 26 late talkers and 70 average talkers, who were assessed for language and cognitive ability at 20 months of age. Follow-up at 4 years of age was carried out for 24 late and 58 average talkers. A psychometric test battery was used to categorize children in terms of language status (unimpaired or impaired) and nonverbal ability (normal range or more than 1 SD below average). The vocabulary and non-word repetition skills of the accompanying parent were also assessed.

Results

Among the late talkers, seven (29%) met our criteria for specific language impairment (SLI) at 4 years of age, and a further two (8%) had low nonverbal ability. In the group of average talkers, eight (14%) met the criteria for SLI at 4 years, and five other children (8%) had low nonverbal ability. Family history of language problems was slightly better than late-talker status as a predictor of SLI.. The best predictors of SLI at 20 months of age were score on the receptive language scale of the Mullen Scales of Early Learning and the parent''s performance on a non-word repetition task. Maternal education was not a significant predictor of outcome.

Conclusions

In this study, around three-quarters of late talkers did not have any language difficulties at 4 years of age, provided there was no family history of language impairment. A family history of language-literacy problems was found to be a significant predictor for persisting problems. Nevertheless, there are children with SLI for whom prediction is difficult because they did not have early language delay.     

Novel mutations in the SH3BP2 gene associated with sporadic central giant cell lesions and cherubism

Central giant cell lesion (CGCL) is a reactive bone lesion that occurs mainly in the mandible, characterized by the multinucleated osteoclast-like giant cells in a background of oval to spindle-shaped mononuclear cells. The etiology is unknown and occurs more commonly in young adults. Cherubism, a rare disease found predominantly in females has histologic characteristics indistinguishable from those of CGCL and is caused by mutations mostly present in exon 9 of the SH3BP2 gene. In this study, we investigated four cases of CGCL and one case of cherubism. DNA was extracted from peripheral blood and tumor tissue and all coding and flanking regions of the SH3BP2 amplified by PCR and directly sequenced to identify underlying mutations. Two novel mutations were found; a heterozygous missense mutation c.1442A>T (Q481L) in exon 11 in one sporadic case of CGCL and a heterozygous germline and tumor tissue missense mutation c.320C>T (T107M) in exon 4 in one patient with cherubism. These findings open a new window to investigate the possible relationship between the pathogenesis of the cherubism and CGCL.