400 research outputs found

    Characterization of Soil-Water Retention with Coarse Fragments in the Densu Basin of Ghana

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    The presence of coarse fragments can have profound impact on soil moisture retention characteristics. The study was conducted to assess the effects of coarse fragments on the moisture retention characteristics of 16 soil series, developed over five different parent materials in the Densu basin. Soil profiles were excavated at five locations, to depths within 1.5 m in the field. Undisturbed soil core samples and disturbed samples were taken in triplicates from the major genetic horizons of each soil type within the effective root depth of 1 m. Coarse fragments content of soil more than 2 mm was measured on mass basis by sieving through a 2-mm mesh. Soil moisture retention was determined using the pressure plate apparatus at suctions of pF 1 (1.0 kPa), pF 2 (10.0 kPa), pF 2.5 (33.0 kPa) and pF 3 (100.0 kPa) for the undisturbed and pF 4.2 (1500 kPa) for the disturbed samples.The volumetric moisture content between field capacity (FC) pF 2.5 (33.0 kPa) and permanent wilting pointing (PWP) pF 4.2 (1500.0 kPa) was used to evaluate the available water content (AWC) by volume and then converted to root zone available water capacity (RZAWC) in millimetres (mm) assuming an effective root depth of 1 m within the basin. Results showed that soils formed over granite and its associations have high percentage of coarse fragments while soils developed over phyllites and its associations have high clay percentage. Soil organic matter was high in the topsoil of all profiles, ranging from 0.81 to 4.44% compared with the horizons below, and the bulk density of the topsoils were less than the limiting value of 1.6 Mg m-3. Site-specific moisture retention characteristics of the various soil series have been delineated. It was evident from the analyses that soils containing high clay content gave high RZAWC values compared with soils with high coarse fragments. Most of the topsoils of the profiles gave high RZAWC values compared with sub-layers with high amounts of coarse fragments. Critical water for plants establishment within the basin in the surface layer was quite favourable

    Field dependent anisotropy change in a supramolecular Mn(II)-[3x3] grid

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    The magnetic anisotropy of a novel Mn(II)-[3x3] grid complex was investigated by means of high-field torque magnetometry. Torque vs. field curves at low temperatures demonstrate a ground state with S > 0 and exhibit a torque step due to a field induced level-crossing at B* \approx 7.5 T, accompanied by an abrupt change of magnetic anisotropy from easy-axis to hard-axis type. These observations are discussed in terms of a spin Hamiltonian formalism.Comment: 4 pages, 4 figures, to be published in Phys. Rev. Let

    Hereditary cancer registries improve the care of patients with a genetic predisposition to cancer:contributions from the Dutch Lynch syndrome registry

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    The Dutch Hereditary Cancer Registry was established in 1985 with the support of the Ministry of Health (VWS). The aims of the registry are: (1) to promote the identification of families with hereditary cancer, (2) to encourage the participation in surveillance programs of individuals at high risk, (3) to ensure the continuity of lifelong surveillance examinations, and (4) to promote research, in particular the improvement of surveillance protocols. During its early days the registry provided assistance with family investigations and the collection of medical data, and recommended surveillance when a family fulfilled specific diagnostic criteria. Since 2000 the registry has focused on family follow-up, and ensuring the quality of surveillance programs and appropriate clinical management. Since its founding, the registry has identified over 10,000 high-risk individuals with a diverse array of hereditary cancer syndromes. All were encouraged to participate in prevention programmes. The registry has published a number of studies that evaluated the outcome of surveillance protocols for colorectal cancer (CRC) in Lynch syndrome, as well as in familial colorectal cancer. In 2006, evaluation of the effect of registration and colonoscopic surveillance on the mortality rate associated with colorectal cancer (CRC) showed that the policy led to a substantial decrease in the mortality rate associated with CRC. Following discovery of MMR gene defects, the first predictive model that could select families for genetic testing was published by the Leiden group. In addition, over the years the registry has produced many cancer risk studies that have helped to develop appropriate surveillance protocols. Hereditary cancer registries in general, and the Lynch syndrome registry in particular, play an important role in improving the clinical management of affected families.</p

    Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

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    Background: Genomic disorders are often caused by non-allelic homologous recombination between segmental duplications. Chromosome 16 is especially rich in a chromosome-specific low copy repeat, termed LCR16. Methods and Results: A bacterial artificial chromosome (BAC) array comparative genome hybridisation (CGH) screen of 1027 patients with mental retardation and/or multiple congenital anomalies (MR/MCA) was performed. The BAC array CGH screen identified five patients with deletions and five with apparently reciprocal duplications of 16p13 covering 1.65 Mb, including 15 RefSeq genes. In addition, three atypical rearrangements overlapping or flanking this region were found. Fine mapping by high-resolution oligonucleotide arrays suggests that these deletions and duplications result from non-allelic homologous recombination (NAHR) between distinct LCR16 subunits with >99% sequence identity. Deletions and duplications were either de novo or inherited from unaffected parents. To determine whether these imbalances are associated with the MR/MCA phenotype or whether they might be benign variants, a population of 2014 normal controls was screened. The absence of deletions in the control population showed that 16p13.11 deletions are significantly associated with MR/MCA (p = 0.0048). Despite phenotypic variability, common features were identified: three patients with deletions presented with MR, microcephaly and epilepsy (two of these had also short stature), and two other deletion carriers ascertained prenatally presented with cleft lip and midline defects. In contrast to its previous association with autism, the duplication seems to be a common variant in the population (5/1682, 0.29%). Conclusion: These findings indicate that deletions inherited from clinically normal parents are likely to be causal for the patients' phenotype whereas the role of duplications (de novo or inherited) in the phenotype remains uncertain. This difference in knowledge regarding the clinical relevance of the deletion and the duplication causes a paradigm shift in (cyto) genetic counselling

    Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: Absence of structural mutations in five patients with brody disease

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    Sarcolipin (SLN) is a low-molecular-weight protein that copurifies with the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase (SERCA1). Genomic DNA and cDNA encoding human sarcolipin (SLN) were isolated and characterized and the SLN gene was mapped to chromosome 11q22-q23. Human, rabbit, and mouse cDNAs encode a protein of 31 amino acids. Homology of SLN with phospholamban (PLN) suggests that the first 7 hydrophilic amino acids are cytoplasmic, the next 19 hydrophobic amino acids form a single transmembrane helix, and the last 5 hydrophilic amino acids are lumenal. The cytoplasmic and transmembrane sequences are not well conserved among the three species, but the lumenal sequence is highly conserved. Like SERCA1, SLN is highly expressed in rabbit fast-twitch skeletal muscle, but it is expressed to a lower extent in slow-twitch muscle and to an even lower extent in cardiac muscle, where SERCA2a and PLN are highly expressed. It is expressed in only trace amounts in pancreas and prostate. SLN and PLN genes resemble each other in having two small exons, with their entire coding sequences lying in exon 2 and a large intron separating the two segments. Brody disease is an inherited disorder of skeletal muscle function, characterized by exercise-induced impairment of muscle relaxation. Mutations in the ATP2A1 gene encoding SERCA1 have been associated with the autosomal recessive inheritance of Brody disease in three families, but not with autosomal dominant inheritance of the disease. A search for mutations in the SLN gene in five Brody families, four of which were not linked to ATP2A1, did not reveal any alterations in coding, splice junction or promoter sequences. The homozygous deletion of C438 in the coding sequence of ATP2A1 in Brody disease family 3, leading to a frameshift and truncation following Pro147 in SERCA1, is the fourth ATP2A1 mutation to be associated with autosomal recessive Brody disease

    Farewell, welfare state – hello, welfare regions? Chances and constraints of welfare management in the German federal system

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    The German welfare state is in crisis. Alarming long-term demographic trends, the still not fully digested consequences of German unification and the current economic downturn in much of the Eurozone have combined to create an urgent need for welfare reform. Yet the constitutional arrangements which govern the German political system, and well-entrenched political practice, mean that any such reform process is a daunting challenge. Thus, the welfare crisis is also a crisis of German-style co-operative federalism. Current empirical evidence makes for uncomfortable reading, and triggers debate on the nature of the German federation: have the two constitutional principles of federalism and establishing equal living conditions throughout the federation become mutually exclusive? However, as much of the welfare state is centred on the best utilisation of scarce financial resources, it is debatable to what extent alterations in the functional distribution of welfare responsibilities among the territorial levels of government can be regarded as a solution for the current problems. The article concludes that in the search for long-term sustainability of the welfare state the territorial dimension is likely to remain a secondary issue
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