Identification of the bovine Arachnomelia mutation by massively parallel sequencing implicates sulfite oxidase (SUOX) in bone development

Arachnomelia is a monogenic recessive defect of skeletal development in cattle. The causative mutation was previously mapped to a approximately 7 Mb interval on chromosome 5. Here we show that array-based sequence capture and massively parallel sequencing technology, combined with the typical family structure in livestock populations, facilitates the identification of the causative mutation. We re-sequenced the entire critical interval in a healthy partially inbred cow carrying one copy of the critical chromosome segment in its ancestral state and one copy of the same segment with the arachnomelia mutation, and we detected a single heterozygous position. The genetic makeup of several partially inbred cattle provides extremely strong support for the causality of this mutation. The mutation represents a single base insertion leading to a premature stop codon in the coding sequence of the SUOX gene and is perfectly associated with the arachnomelia phenotype. Our findings suggest an important role for sulfite oxidase in bone development.

Effective compression ratio-A new measurement of the quality of thorax compression during CPR

PURPOSE: Computer-based feedback systems for assessing the quality of cardiopulmonary resuscitation (CPR) are widely used these days. Recordings usually involve compression and ventilation dependent variables. Thorax compression depth, sufficient decompression and correct hand position are displayed but interpreted independently of one another. We aimed to generate a parameter, which represents all the combined relevant parameters of compression to provide a rapid assessment of the quality of chest compression-the effective compression ratio (ECR). METHODS: The following parameters were used to determine the ECR: compression depth, correct hand position, correct decompression and the proportion of time used for chest compressions compared to the total time spent on CPR. Based on the ERC guidelines, we calculated that guideline compliant CPR (30:2) has a minimum ECR of 0.79. To calculate the ECR, we expanded the previously described software solution. In order to demonstrate the usefulness of the new ECR-parameter, we first performed a PubMed search for studies that included correct compression and no-flow time, after which we calculated the new parameter, the ECR. RESULTS: The PubMed search revealed 9 trials. Calculated ECR values ranged between 0.03 (for basic life support [BLS] study, two helpers, no feedback) and 0.67 (BLS with feedback from the 6th minute). CONCLUSION: ECR enables rapid, meaningful assessment of CPR and simplifies the comparability of studies as well as the individual performance of trainees. The structure of the software solution allows it to be easily adapted to any manikin, CPR feedback devices and different resuscitation guidelines (e.g. ILCOR, ERC).

The Locking Compression Paediatric Hip Plate: technical guide and critical analysis

Osteotomies of the proximal femur and stable fixation of displaced femoral neck fractures are demanding operations. An LCP Paediatric Hip Plate was developed to make these operations safer and less demanding. The article focuses on the surgical technique and critically analyses the device.

Parallel divergent adaptation along replicated altitudinal gradients in Alpine trout

Background The European trout (Salmo trutta species complex) occurs across a very wide altitudinal range from lowland rivers to alpine streams. Historically, the major European river systems contained different, evolutionarily distinct trout lineages, and some of this genetic diversity has persisted in spite of extensive human-mediated translocations. We used AFLP-based genome scans to investigate the extent of potentially adaptive divergence among major drainages and along altitudinal gradients replicated in several rivers. Results The proportion of loci showing evidence of divergent selection was larger between drainages than along altitudinal transects within drainages. This suggests divergent selection is stronger between drainages, or adaptive divergence is constrained by gene flow among populations within drainages, although the latter could not be confirmed at a more local scale. Still, altitudinal divergence occurred and, at approximately 2% of the markers, parallel changes of the AFLP band frequencies with altitude were observed suggesting that altitude may well be an important source of divergent selection within rivers. Conclusions Our results indicate that adaptive genetic divergence is common both between major European river systems and along altitudinal gradients within drainages. Alpine trout appear to be a promising model system to investigate the relative roles of divergent selection and gene flow in promoting or preventing adaptation to climate gradients.

Lordoplasty: report on early results with a new technique for the treatment of vertebral compression fractures to restore the lordosis

Cement augmentation using PMMA cement is known as an efficient treatment for osteoporotic vertebral compression fractures with a rapid release of pain in most patients and prevention of an ongoing kyphotic deformity of the vertebrae treated. However, after a vertebroplasty there is no chance to restore vertebral height. Using the technique of kyphoplasty a certain restoration of vertebral body height can be achieved. But there is a limitation of recovery due to loss of correction when deflating the kyphoplastic ballon and before injecting the cement. In addition, the instruments used are quite expensive. Lordoplasty is another technique to restore kyphosis by indirect fracture reduction as it is used with an internal fixateur. The fractured and the adjacent vertebrae are instrumented with bone cannulas bipediculary and the adjacent vertebrae are augmentated with cement. After curing of the cement the fractured vertebra is reduced by applying a lordotic moment via the cannulas. While maintaining the pretension the fractured vertebra is reinforced. We performed a prospective trial of 26 patients with a lordoplastic procedure. There was a pain relief of about 87% and a significant decrease in VAS value from 7.3 to 1.9. Due to lordoplasty there was a significant and permanent correction in vertebral and segmental kyphotic angle about 15.2 degrees and 10.0 degrees , respectively and also a significant restoration in anterior and mid vertebral height. Lordoplasty is a minimal invasive technique to restore vertebral body height. An immediate relief of pain is achieved in most patients. The procedure is safe and cost effective.

[Effectiveness of intermittent pneumatic compression (IPC) on thrombosis prophylaxis: a systematic literature review]

Despite changes in patient demographics and short-ened length of hospital stay deep vein thrombosis (DVT) remains a major health care problem which may lead to a variety of other high risk complications. Current treatment guidelines focus on preventive measures. Beside drug therapy, physical measures executed by nursing professionals exist, the outcomes of which are discussed controversially. Based on 25 studies that were found in MEDLINE and the Cochrane library, this systematic literature review identifies the effectiveness of intermittent pneumatic compression (IPC) on thrombosis prophylaxis. In almost all medical settings IPC contributes to a significant reduction of the incidence of DVT. At the same time, IPC has minimal negative side effects and is also cost effective. Correct application of IPC and patient compliance are essential to achieve its effectiveness. An increased awareness within the healthcare team in identifying the risk for and implementing measures against DVT is needed. Guidelines need to be developed in order to improve the effectiveness of thrombosis prophylaxis with the implementation of IPC.

Levocetirizine is an effective treatment in patients suffering from chronic idiopathic urticaria: a randomized, double-blind, placebo-controlled, parallel, multicenter study

BACKGROUND: Chronic idiopathic urticaria (CIU) is defined by the almost daily presence of urticaria for at least 6 weeks without an identifiable cause. Symptoms include short-lived wheals, itching, and erythema. CIU impedes significantly a patient's quality of life (QoL). Levocetirizine is an antihistamine from the latest generation approved for CIU. AIM: To investigate the efficacy of levocetirizine, 5 mg, and placebo for the symptoms and signs of CIU, as well as for the QoL and productivity. METHODS: The primary criteria of evaluation were the pruritus severity scores over 1 week of treatment and over 4 weeks. The QoL was assessed via the Dermatology Life Quality Index (DLQI). RESULTS: Baseline pruritus severity scores were comparable in the two treatment groups (2.06+/-0.58). After 1 week, levocetirizine was superior to placebo and demonstrated a considerable efficacy (difference=0.78, P<0.001). This efficacy was maintained over the entire study period (4 weeks, P<0.001). The number and size of wheals were considerably reduced compared with placebo over 1 week and over the total treatment period (P paralleled by an improvement in the QoL (DLQI: 7.3 units in the levocetirizine group and 2.4 units in the placebo group) and a higher productivity at work in the levocetirizine group (3.0 workdays lost per patient per month in the placebo group, 0.3 in the levocetirizine group). No unexpected adverse events occurred. CONCLUSIONS: Levocetirizine, 5 mg once daily, is an effective treatment for CIU, characterized not only by a rapid and sustained response, but also by an important improvement in QoL.