Germline mutations in the neurofibromatosis type 2 tumour suppressor gene

The recent identification of the NF2 tumour suppressor genehas enabled large scale screening for pathological mutationsin the gene. We have sought germline mutations In the NF2 geneby SSCP and heteroduplex analysis of cDNA and genomic DNA samplesfollowed by cloning and sequencing of mutant alleles. In thepresent report we describe 11 putative pathological mutations,including five nonsense mutations, three short insertions ordeletions cauing frameshifts and three missense mutations. Moststop mutations and frameshift mutations were found In Individualsexpressing a severe phenotype while one of the three missensemutations was associated with a mild phenotype. Four unrelatedNF2 patients of the 93 tested were found to have identical nonsensemutations caused by a C to T transition (C169) in a CpG dinucleotide,which is a potential mutational hotspot in the NF2 tumour suppressorgene.     

Aggressive angiomyxoma with gastrointestinal communication: a case report

We report the imaging findings of an abdominal aggressive angiomyxoma, which communicated with the gastrointestinal tract. The literature on this rare tumor is reviewed.     

Stress injury of the distal radial growth plate

We report 21 cases of stress injury of the distal radial growth plate-occurring in gymnasts before skeletal maturity. The injury appears to be caused by inability of the growth plate to withstand rotational and compressive forces. Our observations have confirmed that the skeletal age of gymnasts is retarded, which increases the length of time during which the epiphysis is at risk of damage.     

Effects of a Broad-spectrum Behavioral Medicine Treatment Program on Children with Refractory Epileptic Seizures: An 8-Year Follow-Up

We present an 8 year follow-up on a group of children with refractory epileptic seizures who participated in the early 1980s in a controlled group study on the effects of a broad-spectrum behavior modification treatment program on children with refractory epileptic seizures. In the original study, 18 children were divided into three groups: behavior modification group, attention control group, and control group. The purpose was to investigate the effects of a learning-based treatment program superimposed on a regular medical treatment program. Also, the effects of professional attention were evaluated. At the 10 week and 1 year follow-ups, only the group receiving the behavior modification intervention had a significantly reduced rate of seizure index. The present study investigates these same children 8 years later using the same methods of investigation for an additional 10 week period. The results indicate that a significant reduction in seizures was obtained only for the behavior modification group at the 8 year follow-up.     

Are current processes for nuclear emergency management in Europe adequate?

We describe the results of process mapping of nuclear emergency management procedures in four European countries. We find clear differences and explore these in relation to their suitability for building a shared understanding across the emergency management team of the evolving situation and a balanced appreciation of the uncertainties. Our findings indicate that there are some issues that cause concern in that the procedures may run smoothly and efficiently but they may also risk underestimating uncertainty or ignore key issues that have only been identified by a minority of experts or models. We are concerned that they do not facilitate the building of shared mental models that the literature such as that on highly reliable organisations has shown is important.     

Contact finite element stress analysis of porous ingrowth acetabular cup implantation, ingrowth, and loosening

Two-dimensional linear and contact finite element analyses were conducted of total hip arthroplasty using metal-backed, porous ingrowth acetabular components. The stress transmission characteristics from the component to the surrounding bone were given special attention. Resultant loads of 20 and 40 degrees medial of vertical were studied, and the influence of adding a metal flange to the rim of the cup was evaluated. The results indicated that when a conventional metal-backed component (without a flange) is initially implanted and subjected to normal loading, these components may experience distraction between the component and the surrounding bone at inferior sites. Compressive stresses in the superior dome cancellous bone, however, will be substantial. If complete porous ingrowth is achieved, the superior dome compressive stresses will be reduced and substantial shear stresses created. In addition, high local bone stresses were found at the component rim. If bone ingrowth is achieved only in specific locations, stress transmission will be dictated by those locations and may differ markedly from the case of complete bone ingrowth. In the event that no porous ingrowth is achieved and a fibrous layer forms around the component, the interface stresses will be similar to those calculated for the natural hip. The addition of a flange to the rim of the cup will reduce the magnitude of the radial stresses transmitted to the cancellous bone superiorly and medially by directly transferring some of the load to the lateral wall of the pelvis. The flange will also help to relieve the high local stresses that are found at the component rim.     

The relationship of the transcutaneous oxygen tension, pulse waves and systolic pressures to the risk for limb amputation in patients with peripheral arterial disease and skin ulcers or gangrene.

AIM: Our aim was to determine how the risk associated with presence of low transcutaneous oxygen tension (tcPO2) for subsequent major amputation in patients with skin ulcers or gangrene and peripheral arterial disease, compares with the risks associated with low peripheral pressures and low amplitude of pulse waves. Secondly, we determined whether combination of measurements of oxygen tension with that of the pressures or pulse wave amplitude predicts amputation better than pressure, wave or oxygen tension measurements alone. METHODS: Measurements were carried out to obtain foot tcPO2, ankle and toe pressures, pressure indices, and toe pulse wave amplitude in 75 limbs with skin lesions and arterial disease of 66 patients referred to the vascular laboratory. These variables were related to the risk of a subsequent major amputation during a median time of 4.2 years, using Cox proportional hazards model. RESULTS: Low oxygen tension was associated with increased risk of amputation (relative risks 2.16 and 2.55 for tcPO2 < or = 10 mmHg and < or = 20 mmHg, respectively, P<0.05; relative risk 2.22 for tcPO2 < or = 30 mmHg, P=0.07). The relative risks associated with cutoff values of ankle and toe pressures and pressure indices varied from 2.53 (toe < or = 20 mmHg, P<0.05) to 5.83 (ankle < or = 50 mmHg, P<0.001) and the relative risk associated with low wave amplitude (< or = 4 mm) was 3.41, P<0.01. The cutoff values of tcPO2 became insignificant when included in the models together with each pressure variable or pulse amplitude separately. In contrast, wave amplitude remained significantly associated with increased risk of amputation after controlling for each pressure variable (P<0.05). CONCLUSIONS: TcPO2 < or = 10 mmHg and < or = 20 mmHg are related significantly to increased risk of amputation in patients with skin lesions and arterial disease, but these relative risks are similar in magnitude or smaller than those associated with low cutoff values of pressures, pressure indices or pulse wave amplitude. Low wave amplitude does provide significant information in addition to peripheral pressures with respect to the risk of amputation. On the other hand, low tcPO2 does not provide significant information in addition to peripheral pressures or pulse wave amplitude.