Homotopy type of spaces of curves with constrained curvature on flat surfaces

Let $S$ be a complete flat surface, such as the Euclidean plane. We determine the homeomorphism class of the space of all curves on $S$ which start and end at given points in given directions and whose curvatures are constrained to lie in a given open interval, in terms of all parameters involved. Any connected component of such a space is either contractible or homotopy equivalent to an $n$-sphere, and every $n\geq 1$ is realizable. Explicit homotopy equivalences between the components and the corresponding spheres are constructed.Comment: 39 pages, 13 figures. Differs from previous version by many improvements of the expositio

Spinocerebellar ataxia type 17: Report of a family with reduced penetrance of an unstable Gln(49 )TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes

BACKGROUND: Spinocerebellar ataxia type 17 (SCA17), a neurodegenerative disorder in man, is caused by an expanded polymorphic polyglutamine-encoding trinucleotide repeat in the gene for TATA-box binding protein (TBP), a main transcription factor. Observed pathogenic expansions ranged from 43 – 63 glutamine (Gln) codons (Gln(43–63)). Reduced penetrance is known for Gln(43–48 )alleles. In the vast majority of families with SCA17 an expanded CAG repeat interrupted by a CAA CAG CAA element is inherited stably. RESULTS: Here, we report the first pedigree with a Gln(49 )allele that is a) not interrupted, b) unstable upon transmission, and c) associated with reduced penetrance or very late age of onset. The 76-year-old father of two SCA17 patients carries the Gln(49 )TBP allele but presents without obvious neurological symptoms. His children with Gln(53 )and Gln(52 )developed ataxia at the age of 41 and 50. Haplotype analysis of this and a second family both with uninterrupted expanded and unstable pathological SCA17 alleles revealed a common core genotype not present in the interrupted expansion of an unrelated SCA17 patient. Review of the literature did not present instability in SCA17 families with expanded alleles interrupted by the CAA CAG CAA element. CONCLUSION: The presence of a Gln(49 )SCA17 allele in an asymptomatic 76-year-old male reams the discussion of reduced penetrance and genotypes producing very late disease onset. In SCA17, uninterrupted expanded alleles of TBP are associated with repeat instability and a common founder haplotype. This suggests for uninterrupted expanded alleles a mutation mechanism and some clinical genetic features distinct from those alleles interrupted by a CAA CAG CAA element

Fusarium species and mycotoxin profiles on commercial maize hybrids in Germany

Abstract High year-to-year variability in the incidence of Fusarium spp. and mycotoxin contamination was observed in a two-year survey investigating the impact of maize ear rot in 84 field samples from Germany. Fusarium verticillioides, F. graminearum, and F. proliferatum were the predominant species infecting maize kernels in 2006, whereas in 2007 the most frequently isolated species were F. graminearum, F. cerealis and F. subglutinans. Fourteen Fusariumrelated mycotoxins were detected as contaminants of maize kernels analyzed by a multi-mycotoxin determination method. In 2006, a growth season characterized by high temperature and low rainfall during anthesis and early grain filling, 75% of the maize samples were contaminated with deoxynivalenol, 34% with fumonisins and 27% with zearalenone. In 2007, characterized by moderate temperatures and frequent rainfall during the entire growth season, none of the 40 maize samples had quantifiable levels of fumonisins while deoxynivalenol and zearalenone were detected in 90% and 93% of the fields, respectively. In addition, 3-acetyldeoxynivalenol, 15-acetyldeoxnivalenol, moniliformin, beauvericin, nivalenol and enniatin B were detected as common contaminants produced in both growing seasons. The results demonstrate a significant mycotoxin contamination associated with maize ear rots in Germany and indicate, with regard to anticipated climate change, that fumonisins-producing species already present in German maize production may become more important. Keywords Deoxynivalenol . Ear rot . F. verticillioides . F. graminearum . Fumonisin . Zearalenon

The burden of cardiovascular disease in sub-Saharan Africa

Correspondence: The burden of cardiovascular disease in sub-Saharan Africa by Anthony Mbewu

55 Investigation of the RetS–GacAS regulatory network in clinical Pseudomonas aeruginosa isolates reveals evolutionary adaptation

Digitalitzat per Artypla

Impact of Different Trace Elements on the Growth and Proteome of Two Strains of Granulicella, Class “Acidobacteriia”

Acidobacteria represents one of the most dominant bacterial groups across diverse ecosystems. However, insight into their ecology and physiology has been hampered by difficulties in cultivating members of this phylum. Previous cultivation efforts have suggested an important role of trace elements for the proliferation of Acidobacteria, however, the impact of these metals on their growth and metabolism is not known. In order to gain insight into this relationship, we evaluated the effect of trace element solution SL10 on the growth of two strains (5B5 and WH15) of Acidobacteria belonging to the genus Granulicella and studied the proteomic responses to manganese (Mn). Granulicella species had highest growth with the addition of Mn, as well as higher tolerance to this metal compared to seven other metal salts. Variations in tolerance to metal salt concentrations suggests that Granulicella sp. strains possess different mechanisms to deal with metal ion homeostasis and stress. Furthermore, Granulicella sp. 5B5 might be more adapted to survive in an environment with higher concentration of several metal ions when compared to Granulicella sp. WH15. The proteomic profiles of both strains indicated that Mn was more important in enhancing enzymatic activity than to protein expression regulation. In the genomic analyses, we did not find the most common transcriptional regulation of Mn homeostasis, but we found candidate transporters that could be potentially involved in Mn homeostasis for Granulicella species. The presence of such transporters might be involved in tolerance to higher Mn concentrations, improving the adaptability of bacteria to metal enriched environments, such as the decaying wood-rich Mn environment from which these two Granulicella strains were isolated

Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2

<p>Abstract</p> <p>Background</p> <p>The autosomal recessively inherited ataxia with oculomotor apraxia 2 (AOA2) is a neurodegenerative disorder characterized by juvenile or adolescent age of onset, gait ataxia, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia, and elevated serum AFP levels. AOA2 is caused by mutations within the senataxin gene (<it>SETX</it>). The majority of known mutations are nonsense, missense, and splice site mutations, as well as small deletions and insertions.</p> <p>Methods</p> <p>To detect mutations in patients showing a clinical phenotype consistent with AOA2, the coding region including splice sites of the <it>SETX </it>gene was sequenced and dosage analyses for all exons were performed on genomic DNA. The sequence of cDNA fragments of alternative transcripts isolated after RT-PCR was determined.</p> <p>Results</p> <p>Sequence analyses of the <it>SETX </it>gene in four patients revealed a heterozygous nonsense mutation or a 4 bp deletion in three cases. In another patient, PCR amplification of exon 11 to 15 dropped out. Dosage analyses and breakpoint localisation yielded a 1.3 kb LINE1 insertion in exon 12 (patient P1) and a 6.1 kb deletion between intron 11 and intron 14 (patient P2) in addition to the heterozygous nonsense mutation R1606X. Patient P3 was compound heterozygous for a 4 bp deletion in exon 10 and a 20.7 kb deletion between intron 10 and 15. This deletion was present in a homozygous state in patient P4.</p> <p>Conclusion</p> <p>Our findings indicate that gross mutations seem to be a frequent cause of AOA2 and reveal the importance of additional copy number analysis for routine diagnostics.</p