Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

Table 1     

Functional evaluation of the spinal cord by magnetic resonance imaging in patients with rheumatoid arthritis and instability of upper cervical spine

Thirty-four patients with atlanto-axial instability due to rheumatoid arthritis were examined with plain x-ray views and functional magnetic resonance imaging (MR), and were neurologically evaluated. Transcranial brain stimulation was performed in 25 patients. In 22 cases, the authors observed inflammatory tissue thicker than 3 mm behind the odontoid peg. The spinal canal diameter was significantly decreased in the flexed position. Nine patients showed signs of cranial migration of the axis. The diameter of the spinal cord was measured to be 7.4 mm in the neutral position, and 6.5 mm in flexion. The difference between the diameter of the neutral and flexed positions was highly significant. Twelve of the 34 patients displayed clinical signs of cervical myelopathy, and 13 showed a significant delay of central motor latency, as calculated from the motor evoked potentials. Surgical intervention, either by a posterior approach only or combined with a transoral dens and inflammatory tissue resection, is recommended in patients with progressive atlanto-axial instability, pathologic clinical and neurophysiologic findings, and a spinal cord diameter of less than 6 mm in flexion. Severe pain and cranial migration of the axis, as measured by the MRI, also justify a surgical intervention.     

CT-functional diagnostics of the rotatory instability of the upper cervical spine. Part 2. An evaluation on healthy adults and patients with suspected instability

Nine healthy adults and 43 patients with cervical spine injury were examined by using functional (computerized tomography) CT scanning. The ranges of axial rotation at the levels occiput C0-C1, C1-C2, and C2-C3 were measured. A rotation at C0-C1 greater than 8 degrees; at C1-C2, 56 degrees; or a right-left difference C0-C1 greater than 5 degrees and C1-2 greater than 8 degrees indicates hypermobility. A rotation at segment C1-C2 of less than 28 degrees indicates hypomobility. Surgical stabilization of rotatory instability could be considered as a possible therapeutic procedure.     

Fibre type characteristics of the lumbar paraspinal muscles in normal healthy subjects and in patients with low back pain

A knowledge of the alteration in the fibre type profile of paraspinal muscle associated with low back pain is essential for the design of successful rehabilitation programmes. In attempting to compare the muscles of patients with low back pain with those of controls, few previous studies have considered factors such as gender, age, and size of the subjects, each of which can potentially confound interpretation of the results. We obtained samples of lumbar paraspinal muscle during spinal surgery from 21 patients with low back pain and, using the percutaneous biopsy technique, from 21 control volunteers matched for gender, age, and body mass. The samples were subject to routine histochemicsl typcal analysis to determine characteristics of muscle fibre type. Compared with controls, the muscle of the patients had a significantly higher proportion of type-IIB (fast-twitch glycolytic) fibres than type- I (slow oxidatve) fibres. The mean size of a given fibre type did not differ between the patients and the controls. Consequently, the relative area of the muscle iccupied by type-IIB fibres was higher and that by type-I fibres Was lower in the patients. The patients had a greater number of muscle samples with more than 1% type-IIC fibres, and abnormalities that could be described as pathological were more marked in the patients than in the controls. In conclusion, the paraspinal muscles of patients who have low back pain display a more glycolytic (faster) profile; this can be expected to render them less resistant to fatigue.     

A prospective study of tobacco use and multiple myeloma: evidence against an association

The relationship between the use of cigarettes and other tobacco products and the risk of multiple myeloma was examined in a cohort of nearly 250,000 American veterans followed prospectively for 26 years. Compared with men who had never used tobacco, the risk of death from myeloma was not increased among current (relative risk [RR]=0.9, 95 percent confidence interval [CI]=0.8–1.2) or former (RR=1.0, CI=0.8–1.3) cigarette smokers, nor among users of chewing tobacco or snuff (RR=1.0, CI=0.4–2.3). Risk was only slightly and nonsignificantly increased among pipe or cigar smokers (RR=1.2, CI=0.9–1.5). There was no indication of increasing risk with amount of tobacco used or earlier age at first use. With over 90 percent power to detect a 30 percent increased risk of this tumor occuring among current cigarette smokers, this study provides the strongest evidence to date against an association of cigarette smoking with multiple myeloma.Epidemiology and Biometry Program, Division of Cancer Etiology, National Cancer Institute. Westat, Inc. Rockville, MD. National Cancer Institute, 6130 Executive Blvd, Room 418, Rockville, MD 20892, USA.     

Multimodal intraoperative monitoring: towards a routine use in surgical treatment of severe spinal disorders

European Spine Journal -     

A simple cardiac contractility computer

A single-purpose analogue-computing device is described for the online assessment of the contractile state of the human myocardium from the left ventricular pressure (P_lv) data available during routine cardiac catheterisation. Due attention has been paid to the design of the computer circuits so that they will not process pressure phenomena outside the isovolumic contractile period. Either a \(\left( {\frac{1}{{P_{lv} }}\frac{{dP_{lv} }}{{dt}}} \right)_{max} \) or a plain \(\left( {\frac{{dP_{lv} }}{{dt}}} \right)_{max} \) index is presented on a digitalvoltmeter display, thus obviating the need for any graphical extrapolation or additional computation.     

Mature eosinophils stimulated to develop in human-cord blood mononuclear cell cultures supplemented with recombinant human interleukin-5. II. Vesicular transport of specific granule matrix peroxidase, a mechanism for effecting piecemeal degranulation.

The mechanism of piecemeal degranulation by human eosinophils was investigated. Mature eosinophils that developed in rhIL-5-containing conditioned media from cultured human cord blood mononuclear cells were prepared for ultrastructural studies using a combined technique to image eosinophil peroxidase by cytochemistry in the same sections on which postembedding immunogold was used to demonstrate Charcot-Leyden crystal protein. Vesicular transport of eosinophil peroxidase from the specific granule matrix compartment to the cell surface was associated with piecemeal degranulation. This process involved budding of eosinophil peroxidase-loaded vesicles and tubules from specific granules. Some eosinophil peroxidase that was released from eosinophils remained bound to the cell surface; some was free among the cultured cells. Macrophages and basophils bound the released eosinophil peroxidase to their plasma membranes, internalized it in endocytotic vesicles, and stored it in their respective phagolysosomes and secretory granules. Charcot-Leyden crystal protein was diffusely present in the nucleus and cytoplasm of IL-5-stimulated mature eosinophils. Extensive amounts were generally present in granule-poor and subplasma membrane areas of the cytoplasm in contrast to eosinophil peroxidase, which was secreted and bound to the external surface of eosinophil plasma membranes. These studies establish vesicular transport as a mechanism for emptying the specific eosinophil granule matrix compartment during IL-5-associated piecemeal degranulation.