Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome

The Holt-Oram syndrome (HOS) is an autosomal dominant condition characterized by upper limb and cardiac malformations. Mutations in the TBX5 gene cause HOS and have also been associated with isolated heart and arm defects. Interactions between the TBX5, GATA4 and NKX2.5 proteins have been reported in humans. We screened the TBX5, GATA4, and NKX2.5 genes for mutations, by direct sequencing, in 32 unrelated patients presenting classical (8) or atypical HOS (1), isolated congenital heart defects (16) or isolated upper-limb malformations (7). Pathogenic mutations in the TBX5 gene were found in four HOS patients, including two new mutations (c.374delG; c.678G > T) in typical patients, and the hotspot mutation c.835C > T in two patients, one of them with an atypical HOS phenotype involving lower-limb malformations. Two new mutations in the GATA4 gene were found in association with isolated upper-limb malformations, but their clinical significance remains to be established. A previously described possibly pathogenic mutation in the NKX2.5 gene (c.73C > 7) was detected in a patient with isolated heart malformations and also in his clinically normal father

Challenging the Moral Status of Blood Donation

The World Health Organisation encourages that blood donation becomes voluntary and unremunerated, a system already operated in the UK. Drawing on public documents and videos, this paper argues that blood donation is regarded and presented as altruistic and supererogatory. In advertisements, donation is presented as something undertaken for the benefit of others, a matter attracting considerable gratitude from recipients and the collecting organisation. It is argued that regarding blood donation as an act of supererogation is wrongheaded, and an alternative account of blood donation as moral obligation is presented. Two arguments are offered in support of this position. First, the principle of beneficence, understood in a broad consequentialist framework obliges donation where the benefit to the recipient is large and the cost to the donor relatively small. This argument can be applied, with differing levels of normativity, to various acts of donation. Second, the wrongness of free riding requires individuals to contribute to collective systems from which they benefit. Alone and in combination these arguments present moral reasons for donation, recognised in communication strategies elsewhere. Research is required to evaluate the potential effects on donation of a campaign which presents blood donation as moral obligation, but of wider importance is the recognition that other-regarding considerations in relation to our own as well as others’ health result in a range not only of choices but also of obligations

Лапаротомия в системе лечения перитонитов

ПЕРИТОНИТ /ХИРБРЮШИНЫ БОЛЕЗНИ /ХИРЛАПАРОТОМИЯХИРУРГИЧЕСКИЕ ОПЕРАЦИИ /МЕТОДЫРЕЛАПАРОТОМИ

Thigh-length compression stockings and DVT after stroke

Controversy exists as to whether neoadjuvant chemotherapy improves survival in patients with invasive bladder cancer, despite randomised controlled trials of more than 3000 patients. We undertook a systematic review and meta-analysis to assess the effect of such treatment on survival in patients with this disease

Permeability of rock discontinuities and faults in the Triassic Sherwood Sandstone Group (UK): insights for management of fluvio-aeolian aquifers worldwide

Fluvio-aeolian sedimentary successions host groundwater aquifers at shallow depths (<~0.15 km), which overlie geothermal and shale-gas reservoirs, and nuclear waste repositories at intermediate depths (~0.15–2.0 km). Additionally, such deposits represent petroleum reservoirs at greater depths (~2.0–4.0 km). The need to improve conceptual understanding of the hydraulic behaviour of fluvial-aeolian sandstone successions over a large depth interval (~0–4 km) is important for socio-economic reasons. Thus, the hydraulic properties of the Triassic Sherwood Sandstone aquifer in the UK have been reviewed and compared to similar fluvio-aeolian successions. The ratio between well-scale and core-plug-scale permeability (Kwell-test/Kcore-plug) acts as a proxy for the relative importance of fracture versus intergranular flow. This ratio (which typically varies from ~2 to 100) indicates significant contribution of fractures to flow at relatively shallow depths (<~0.15 km). Here, permeability development is controlled by dissolution of calcite-dolomite in correspondence of fractures. The observed ratio (Kwell-test/Kcore-plug) decreases with depth, approaching unity, indicating that intergranular flow dominates at ~1 km depth. At depths ≥ ~1 km, dissolution of carbonate cement by rock alteration due to groundwater flow is absent and fractures are closed. Aeolian and fluvial deposits behave differently in proximity to normal faults in the Sherwood Sandstone aquifer. Deformation bands in aeolian dune deposits strongly compartmentalize this aquifer. The hydro-structural properties of fluvio-aeolian deposits are also controlled by mineralogy in fault zones. A relative abundance of quartz vs. feldspar and clays in aeolian sandstones favours development of low-permeability deformation bands