Characteristics and management of the haemophilia‐associated pseudotumours

The management of haemophilia‐associated pseudotumours presents an ongoing challenge to the haematologist, surgeon and interventional radiologist alike. There is a range of therapeutic approaches including factor replacement, embolization, radiotherapy and a variety of surgical interventions. However, there remains little evidence regarding the most appropriate treatment. We aimed to evaluate the available options of management for the haemophilia‐associated pseudotumour. A literature review was performed using relevant terminology and reviewed for treatment approaches and outcomes. The results demonstrated that most of the data is from single case reports with a small number of single‐ and multicentre case series. In total, 133 patients with 134 described pseudotumours were identified. Adequate haemostatic control with factor replacement was a key component to successful treatment. Surgical excision was the most commonly reported surgical intervention with various composites used for filling of the surgical cavity. The use of radiotherapy has been described particularly in the paediatric population and sites of difficult surgical access. Embolization can be considered as a method of presurgical optimization. Patients with both factor inhibitors and pseudotumours have poorer postoperative outcomes. This review demonstrates that although a lack of large‐centre, randomized studies, timely surgical intervention with adequate haemostatic support and the consideration adjuvant therapies in selected cases can achieve acceptable outcomes in this cohort of patients.     

Loss of heterozygosity in 7q myeloid disorders: clinical associations and genomic pathogenesis

Loss of heterozygosity affecting chromosome 7q is common in acute myeloid leukemia and myelodysplastic syndromes, pointing toward the essential role of this region in disease phenotype and clonal evolution. The higher resolution offered by recently developed genomic platforms may be used to establish more precise clinical correlations and identify specific target genes. We analyzed a series of patients with myeloid disorders using recent genomic technologies (1458 by single-nucleotide polymorphism arrays [SNP-A], 226 by next-generation sequencing, and 183 by expression microarrays). Using SNP-A, we identified chromosome 7q loss of heterozygosity segments in 161 of 1458 patients (11%); 26% of chronic myelomonocytic leukemia patients harbored 7q uniparental disomy, of which 41% had a homozygous EZH2 mutation. In addition, we describe an SNP-A-isolated deletion 7 hypocellular myelodysplastic syndrome subset, with a high rate of progression. Using direct and parallel sequencing, we found no recurrent mutations in typically large deletion 7q and monosomy 7 patients. In contrast, we detected a markedly decreased expression of genes included in our SNP-A defined minimally deleted regions. Although a 2-hit model is present in most patients with 7q uniparental disomy and a myeloproliferative phenotype, haplodeficient expression of defined regions of 7q may underlie pathogenesis in patients with deletions and predominant dysplastic features.     

Electrical stimulation site influences the spatial distribution of motor units recruited in tibialis anterior

Objective

To compare the spatial distribution of motor units recruited in tibialis anterior (TA) when electrical stimulation is applied over the TA muscle belly versus the common peroneal nerve trunk.

Methods

Electromyography (EMG) was recorded from the surface and from fine wires in superficial and deep regions of TA. Separate M-wave recruitment curves were constructed for muscle belly and nerve trunk stimulation.

Results

During muscle belly stimulation, significantly more current was required to generate M-waves that were 5% of the maximal M-wave (M_max; M_5%max), 50% M_max (M_50%max) and 95% M_max (M_95%max) at the deep versus the superficial recording site. In contrast, during nerve trunk stimulation, there were no differences in the current required to reach M_5%max, M_50%max or M_95%max between deep and superficial recording sites. Surface EMG reflected activity in both superficial and deep muscle regions.

Conclusions

Stimulation over the muscle belly recruited motor units from superficial to deep with increasing stimulation amplitude. Stimulation over the nerve trunk recruited superficial and deep motor units equally, regardless of stimulation amplitude.

Significance

These results support the idea that where electrical stimulation is applied markedly affects how contractions are produced and have implications for the interpretation of surface EMG data.     

American society of cytopathology workload recommendations for automated pap test screening: Developed by the productivity and quality assurance in the era of automated screening task force

Based on current literature and the best available research to date, the current FDA workload limits for automated image‐assisted screening, including the ThinPrep Imaging System and the FocalPoint GS, of 100 slides/day (imaged only slides counted as 0.5) are extremely high and may be associated with significant reduction in sensitivity. This task force has proposed six recommendations relating to cytotechnologist (CT) workload in automated image‐guided Pap test screening, which have already been endorsed by major pathology professional societies. These evidence‐based recommendations, however, pertain only to gynecologic specimens with image‐assisted screening, as there is no current available data to justify modifying screening practices regarding non‐gynecologic specimens. The proposed recommendations are as follow: 1) CT workday should not include more than 7 hours of Pap test screening in a 24‐hr period, and an 8‐hr shift day must include at least 2 paid mini‐breaks of 15 minutes each and a 30‐minute lunch break. 2) Future Studies examining CT workload should use actual hours of screening rather than lesser number of hours extrapolated to 8‐hour days. 3) Average laboratory CT workload should NOT exceed 70 slides/day (slides counted per 2010 FDA bulletin). 4) Proportion of imaged slides that undergo full manual review should be at least either 15%, or twice (2×) the epithelial cell abnormality (ECA) rate, whichever is greater. 5) ECA‐adjusted workload measure is a promising method for calculating and monitoring CT workload, but further studies of this method are necessary before full endorsement. 6) CT productivity and workload limits are just one aspect of a good quality assurance program in a cytology laboratory, so other quality indicators to assess CT performance are essential. Diagn. Cytopathol. 2013. © 2012 Wiley Periodicals, Inc.