Dysfunctional lens syndrome

Purpose: To report the pre- and post-operative findings of a case with dysfunctional lens syndrome. Methods: An adult patient was evaluated using iTrace aberrometer, Tomey topographer and slitlamp biomicroscopy to confirm dysfunctional lens syndrome. Results: A 45-year-old male patient presented with the chief complaint of poor visual quality; uncorrected visual acuity 20/40 in the right eye, best spectacle corrected visual acuity 20/25 in the right eye with refraction Plano/−1.50 × 80 (SE = −0.75D). Pre- and post-operative root-mean-square (RMS) of total higherorder aberrations in the entire eye, the internal optics and the cornea were 0.350 & 0.257, 0.311 & 0.236 and 0.214 & 0.191 micron (μ), respectively. Also, the magnitude of preoperative total, internal and corneal coma was 0.254 μ × 222°, 0.274μ×242° and 0.097μ × 131° and postoperative values were 0.170 μ × 162°, 0.131 μ × 177°, 0.054 μ × 125°, respectively. Conclusion: These results show that sometime the HOAs of the internal optics, mainly crystalline lens, are not compensated by the cornea and this may cause visual discomfort in the absence of any significant cataract, this situation is known as dysfunctional lens syndrome (DLS)

Atypical AT Skew in Firmicute Genomes Results from Selection and Not from Mutation

The second parity rule states that, if there is no bias in mutation or selection, then within each strand of DNA complementary bases are present at approximately equal frequencies. In bacteria, however, there is commonly an excess of G (over C) and, to a lesser extent, T (over A) in the replicatory leading strand. The low G+C Firmicutes, such as Staphylococcus aureus, are unusual in displaying an excess of A over T on the leading strand. As mutation has been established as a major force in the generation of such skews across various bacterial taxa, this anomaly has been assumed to reflect unusual mutation biases in Firmicute genomes. Here we show that this is not the case and that mutation bias does not explain the atypical AT skew seen in S. aureus. First, recently arisen intergenic SNPs predict the classical replication-derived equilibrium enrichment of T relative to A, contrary to what is observed. Second, sites predicted to be under weak purifying selection display only weak AT skew. Third, AT skew is primarily associated with largely non-synonymous first and second codon sites and is seen with respect to their sense direction, not which replicating strand they lie on. The atypical AT skew we show to be a consequence of the strong bias for genes to be co-oriented with the replicating fork, coupled with the selective avoidance of both stop codons and costly amino acids, which tend to have T-rich codons. That intergenic sequence has more A than T, while at mutational equilibrium a preponderance of T is expected, points to a possible further unresolved selective source of skew

The ethics of biobanking: key issues and controversies

The ethics of biobanking is one of the most controversial issues in current bioethics and public health debates. For some, biobanks offer the possibility of unprecedented advances which will revolutionise research and improve the health of future generations. For others they are worrying repositories of personal information and tissue which will be used without sufficient respect for those from whom they came. Wherever one stands on this spectrum, from an ethics perspective biobanks are revolutionary. Traditional ethical safeguards of informed consent and confidentiality, for example, simply don’t work for the governance of biobanks and as a result new ethical structures are required. Thus it is not too great a claim to say that biobanks require a rethinking of our ethical assumptions and frameworks which we have applied generally to other issues in ethics. This paper maps the key challenges and controversies of biobanking ethics; it considers; informed consent (its problems in biobanking and possibilities of participants’ withdrawal), broad consent, the problems of confidentiality, ownership, property and comercialisation issues, feedback to participants and the ethics of re-contact

Two chemically similar stellar overdensities on opposite sides of the plane of the Galaxy

Our Galaxy is thought to have undergone an active evolutionary history dominated by star formation, the accretion of cold gas, and, in particular, mergers up to 10 gigayear ago. The stellar halo reveals rich fossil evidence of these interactions in the form of stellar streams, substructures, and chemically distinct stellar components. The impact of dwarf galaxy mergers on the content and morphology of the Galactic disk is still being explored. Recent studies have identified kinematically distinct stellar substructures and moving groups, which may have extragalactic origin. However, there is mounting evidence that stellar overdensities at the outer disk/halo interface could have been caused by the interaction of a dwarf galaxy with the disk. Here we report detailed spectroscopic analysis of 14 stars drawn from two stellar overdensities, each lying about 5 kiloparsecs above and below the Galactic plane - locations suggestive of association with the stellar halo. However, we find that the chemical compositions of these stars are almost identical, both within and between these groups, and closely match the abundance patterns of the Milky Way disk stars. This study hence provides compelling evidence that these stars originate from the disk and the overdensities they are part of were created by tidal interactions of the disk with passing or merging dwarf galaxies.Comment: accepted for publication in Natur

Abnormal NK cell lymphocytosis detected after splenectomy: association with repeated infections, relapsing neutropenia, and persistent polyclonal B-cell proliferation

Abnormal NK cell lymphocytosis detected after splenectomy: association with repeated infections, relapsing neutropenia, and persistent polyclonal B-cell proliferation. Granjo E, Lima M, Fraga M, Santos F, Magalhães C, Queirós ML, Moreira I, Rocha S, Silva AS, Rebelo I, Quintanilha A, Ribeiro ML, Candeias J, Orfão A. Department of Hematology, Hospital S. João, Porto, Portugal. [email protected] Abstract We report the case of a boy with hereditary spherocytosis who presented with mild microcytic hypochromic anemia and recurrent leg ulcers that had been present since childhood. Chronic natural killer (NK) cell and B-cell lymphocytosis was detected 1 year after therapeutic splenectomy during investigation of recurrent episodes of neutropenia and persistent lymphocytosis. NK cells proved to be abnormal at immunophenotyping studies, and B-cells were polyclonal and displayed a normal immunophenotype. Genotypic analysis of T-cell receptor (TCR)-beta and TCR-gamma genes showed a germ-line pattern. The clinical course of this patient was characterized by multiple pulmonary infections and amygdalitis. We discuss the potential roles of persistent immune stimulation due to chronic hemolysis and severe leg ulcers and of splenectomy in the origin of NK cell lymphocytosis and the relationship between NK cells and recurrent infections, relapsing neutropenia, and polyclonal B-cell response