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.     

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.     

Cutaneous necrotizing venulitis: a sequential analysis of the morphological alterations occurring after mast cell degranulation in a patient with a unique syndrome

An unusual patient, with dermal nodules, flexion contractures of the fingers and toes, cold-induced urticaria, dermographism and serum hypocomplementaemia, had necrotizing cutaneous venulitis underlying the spontaneous lesions. Since necrotizing cutaneous venulitis could be experimentally induced by the physical stimuli of cold or trauma, the time-course of histopathological events was documented in the skin of this patient. The histopathological alterations were studied in 1 micron thick, Epon-embedded skin biopsy specimens over an interval of 6 days. The early massive degranulation of the mast cells was followed by the sequential infiltration of neutrophilic, eosinophilic and basophilic polymorphonuclear leucocytes, by the development of venular endothelial cell necrosis and by the deposition of fibrin. The persistent serum hypocomplementaemia involved the classic activating and amplification pathways. It seems possible that the unusual combination of pathobiological processes involving the mast cells and the complement system in this patient has created a unique syndrome, in which venules are damaged and the sheaths of the extensor tendons of the hands and feet become affected in time.     

Vesicular uptake of eosinophil peroxidase by guinea pig basophils and by cloned mouse mast cells and granule-containing lymphoid cells.

Guinea pig basophils, cloned mouse mast cells, and cloned mouse granule-containing lymphoid cells were found to utilize a vesicular transport system to internalize eosinophil peroxidase (EPO) added in vitro. Kinetic analysis indicated that EPO internalization involved the binding of EPO to the plasma membrane, the formation of complex surface invaginations, and the movement of EPO-laden vesicles, tubules, and vacuoles toward the center of the cells. EPO became associated with multivesicular bodies in granule-containing lymphoid cells and mast cells, with immature granules in mast cells, and with mature granules in basophils. In other cells, the endogenous production of granule peroxidases (neutrophils and eosinophils) or the prior uptake of exogenous peroxidatic substances (some basophils) precluded cytochemical analysis of granules for EPO. Vesicular transport of EPO provides a possible explanation for the variable detection of peroxidase activity in mast cells or basophils. It also provides a mechanism for sequestration of this potentially toxic material or for its storage for possible future use.     

Hepatic microvascular development in relation to the morphogenesis of hepatocellular plates in neonatal rats

The development of hepatic microvascular heterogeneity after birth, and its temporal relationship to the development of parenchymal cell plates have received little attention. As a result, the morphogenesis of some of the parameters contributing to this heterogeneity in suckling and weaned rats was studied as a function of time between postpartum days 4 and 30 using in vivo light microscopic, electron microscopic, and immunocytochemical methods. During the early suckling period, the sinusoid network is highly anastomotic, with little evidence of zonation, and the parenchymal cell plates contain multiple cells and are irregularly arranged throughout the lobule. Sinusoidal endothelial fenestration is sparse at 4 days, but phagocytic Kupffer cell (KC) function already exists and exhibits zonal heterogeneity, with more cells located in the periportal zone. With increasing age, endothelial fenestrae increase and organize as sieve plates. Widened centrilobular radial sinusoids form through a loss ("drop-out") of intersinusoidal sinusoids (ISS). Concomitantly, the associated cell plates straighten and become one cell thick. Hepatocyte DNA synthesis and mitosis are higher in the periportal zone, which retains thickened cell plates and anastomotic sinusoids. The centrilobular sinusoids may widen to accommodate the increased volume of blood that results from the loss of ISS as well as the increased numbers of periportal sinusoids containing flow that feed these vessels. KC phagocytic activity increases during the suckling period concomitant with an increase of gut-derived endotoxin in the portal blood, which suggests that the KCs may be releasing mediators that affect sinusoid diameter, blood flow, endothelial fenestration, and perhaps parenchymal growth either directly or through the stimulation of growth factors.