Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemia

Management of homozygous familial hypercholesterolaemia is notoriously difficult. For these patients, LDL apheresis is considered the treatment of choice. Treatment initiation is advocated generally from the age of seven years onwards (Thompson et al., Atherosclerosis 198:247-255, 2008). Here, we present the case of a young girl from a large inbred family of Turkish descent with homozygous familial hypercholesterolaemia and fatal outcome at the early age of 4(1/2) years.In conclusion, this case suggests that management of homozygous familial hypercholesterolaemia may require earlier and more aggressive treatment, including LDL apheresis before the age of seven years.

Thoraxschmerzen bei Kindern und Jugendlichen - das Herz?

Chest pain in children and adolescents is a frequent observation, although potentially relevant disease is rather rare and then found in situations with acute presentation. In children with an inflammatory/infectious clinical context the differential diagnosis is oesophagitis, pleuropneumonia or pericarditis. Potentially dangerous complications may be found in youth with predisposing conditions for aortic dissection, pneumothorax or pulmonary embolism, or even in rare instances for an acute coronary complication. In these cases aggressive diagnostic work-up is mandatory. In the frequent elective outpatient evaluation of teenagers with long-lasting episodes of chest pain, relevant underlying cardiovascular disease only rarely can be found as the cause. In the elective outpatient evaluation for chest pain, usually patient history and clinical examination may be enough to track the problem, the main role of the physician is to provide reassurance with minimal but appropriate testing.

On the relationship between Nd isotopic composition and ocean overturning circulation in idealized freshwater discharge events

Using a cost-efficient climate model, the effect of changes in overturning circulation on neodymium isotopic composition,ϵNd, is systematically examined for the first time. Idealized sequences of abrupt climate changes are induced by the application of periodic freshwater fluxes to the North Atlantic (NA) and the Southern Ocean (SO), thus mainly affecting either the formation of North Atlantic Deep Water (NADW) or Antarctic Bottom Water (AABW). Variations in ϵNd reflect weakening and strengthening of the formation of NADW and AABW, changes in ϵNdof end-members are relatively small. Relationships betweenϵNd and the strength of NADW or AABW are more pronounced for AABW than for NADW. Atlantic patterns of variations in ϵNd systematically differ between NA and SO experiments. Additionally, the signature of changes in ϵNd in the Atlantic and the Pacific is alike in NA but opposite in SO experiments. Discrimination between NA and SO experiments is therefore possible based on the Atlantic pattern of variations in ϵNd and the contrariwise behavior of ϵNd in the Atlantic and the Pacific. In further experiments we examined the effect of variations in magnitudes of particle export fluxes. Within the examined range, and although settling particles represent the only sink of Nd, their effects on ϵNd are relatively small. Our results confirm the large potential of ϵNd as a paleocirculation tracer but also indicate its limitations of quantitative reconstructions of changes in the Atlantic Meridional Ocean Circulation.

Intramedullary nails for pediatric diaphyseal femur fractures in older, heavier children: early results

PURPOSE A common treatment for pediatric femur fractures is intramedullary nail (IMN) insertion. Elastic stable intramedullary nails (ESINs) are often used for these procedures in heavier patients, but the potential for complications and malunion is greater. We describe here a rigid IMN specifically designed for adolescents, the adolescent lateral entry femoral nail (ALFN). The purpose of this study was to compare the recovery and complications for patients treated with ESINs to those treated with the ALFN. METHODS Our study design was a retrospective cohort study. We performed a review of medical records of 22 children ages 10-17 requiring surgical fixation of a femur fracture for a 2½-year period. Patients selected for the study had traumatic diaphyseal femur fractures and were treated with ESINs without end-caps or ALFNs. Our analyses evaluated injury, surgical, and outcome information for all patients. RESULTS Twenty-two patients were eligible for inclusion and were divided into two groups according to their treatment: the ESIN group with 7 patients and the ALFN group with 15 patients. We then performed a comparison of complications and recovery for these patients. The mean time to full weight-bearing was significantly less for the ALFN group (4.1 weeks; SD, 2.2), than the ESIN group (9.4 weeks; SD 3.9). There was no statistical difference in the incidence of major or minor complications. CONCLUSIONS Older, heavier pediatric patients treated for femur fracture with ALFNs had a shorter recovery time than similar patients treated with ESINs. However, the outcomes for both groups were satisfactory.

Ocean acidification - what can we do?

This policy brief is based on a more comprehensive research published by Environmental Management in 2013 and available at http://link.springer.com/article/10.1007%2Fs00267-013-0132-7. It is the second version of policy brief 17/12 published in November 2012 and replaces the previous one.

Search for Low-Molecular-Weight Biomarkers in Plant Tissues and Seeds Using Metabolomics: Tools, Strategies, and Applications

This chapter summarises the metabolomic strategies currently in force used in plant science and describes the methods used. The metabolite profiling and fingerprinting of plant tissues through MS- and/or NMR-based approaches and the subsequent identification of biomarkers is detailed. Strategies for the microisolation and de novo identification of unknown biomarkers are also discussed. The various approaches are illustrated by a metabolomic study of the maize response to herbivory. A review of recent metabolomic studies performed on seed and crop plant tissues involving various analytical strategies is provided.

IGS Technical Report 2011

Applications of the Global Navigation Satellite Systems (GNSS) to Earth Sciences are numerous. The International GNSS Service (IGS), a federation of government agencies, universities and research institutions, plays an increasingly critical role in support of GNSS–related research and engineering activities. This Technical Report 2011 includes contributions from the IGS Governing Board, the Central Bureau, Analysis Centers, Data Centers, station and network operators, and others highlighting status and important activities, changes and results that took place and were achieved during 2011.