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Ano-genital Granulomatosis and Crohn's Disease: A Case Series of Males Presenting with Genital Lymphoedema.
Background and Aims: Ano-genital granulomatosis is a rare chronic granulomatous condition of the skin that causes lymphoedema of the external genitalia. There is a reported association with Crohn's disease. Mechanisms of disease and optimal methods of treatment are poorly understood. Methods: A retrospective casenote review of 25 male patients with ano-genital granulomatosis presenting with genital lymphoedema was performed to determine the clinical and histopathological features of this condition and its relationship to intestinal Crohn's disease. Results: A combination of penile and scrotal oedema was reported at presentation in 80% of patients; 40% of patients had associated intestinal Crohn's disease. The average time from symptom onset to diagnosis was 52.7 months. Half of cutaneous biopsies contained non-caseating granulomas and 14% contained intralymphatic granulomas. In all, 72% of patients responded to oral steroids initially but recurrence was common. Complete or partial response was achieved in 60% of patients treated with azathioprine. Three of six patients responded to anti-tumour necrosis factor [TNF] therapy. A small proportion of patients required circumcision or de-bulking surgery for more debilitating disease. Conclusions: Ano-genital granulomatosis is a rare condition that presents with genital lymphoedema, and there is frequently a protracted delay in diagnosis. There is a very strong association with intestinal Crohn's disease. Genital lymphoedema associated with gastrointestinal symptoms should prompt careful evaluation to exclude both ano-genital granulomatosis and Crohn's disease
Density functional theory study of the structural, electronic, lattice dynamical, and thermodynamic properties of Li
The structural, electronic, lattice dynamical, optical, thermodynamic, and CO{sub 2} capture properties of monoclinic and triclinic phases of Li{sub 4}SiO{sub 4} are investigated by combining density functional theory with phonon lattice dynamics calculations. We found that these two phases have some similarities in their bulk and thermodynamic properties. The calculated bulk modulus and the cohesive energies of these two phases are close to each other. Although both of them are insulators, the monoclinic phase of Li{sub 4}SiO{sub 4} has a direct band gap of 5.24 eV while the triclinic Li{sub 4}SiO{sub 4} phase has an indirect band gap of 4.98 eV. In both phases of Li{sub 4}SiO{sub 4}, the s orbital of O mainly contributes to the lower-energy second valence band (VB{sub 2}) and the p orbitals contribute to the fist valence band (VB{sub 1}) and the conduction bands (CBs). The s orbital of Si mainly contributes to the lower portions of the VB1 and VB{sub 2}, and Si p orbitals mainly contribute to the higher portions of the VB{sub 1} and VB{sub 2}. The s and p orbitals of Li contribute to both VBs and to CBs, and Li p orbitals have a higher contribution than the Li s orbital. There is possibly a phonon soft mode existing in triclinic {gamma}-Li{sub 4}SiO{sub 4}; in the monoclinic Li{sub 4}SiO{sub 4}, there are three phonon soft modes, which correspond to the one type of Li disordered over a few sites. Their LO-TO splitting indicates that both phases of Li{sub 4}SiO{sub 4} are polar anisotropic materials. The calculated infrared absorption spectra for LO and TO modes are different for these two phases of Li{sub 4}SiO{sub 4}. The calculated relationships of the chemical potential versus temperature and CO{sub 2} pressure for reaction of Li{sub 4}SiO{sub 4} with CO{sub 2} shows that Li{sub 4}SiO{sub 4} could be a good candidate for a high-temperature CO{sub 2} sorbent while used for postcombustion capture technology
A comparison of smartphone and paper data collection tools in the Burden of Obstructive Lung Disease (BOLD) study in Gezira state, Sudan
Introduction: Data collection using paper-based questionnaires can be time consuming and return errors affect data accuracy, completeness, and information quality in health surveys. We compared smartphone and paper-based data collection systems in the Burden of Obstructive Lung Disease (BOLD) study in rural Sudan. Methods: This exploratory pilot study was designed to run in parallel with the cross-sectional household survey. The Open Data Kit was used to programme questionnaires in Arabic into smartphones. We included 100 study participants (83% women; median age = 41.5 ± 16.4 years) from the BOLD study from 3 rural villages in East-Gezira and Kamleen localities of Gezira state, Sudan. Questionnaire data were collected using smartphone and paper-based technologies simultaneously. We used Kappa statistics and inter-rater class coefficient to test agreement between the two methods. Results: Symptoms reported included cough (24%), phlegm (15%), wheezing (17%), and shortness of breath (18%). One in five were or had been cigarette smokers. The two data collection methods varied between perfect to slight agreement across the 204 variables evaluated (Kappa varied between 1.00 and 0.02 and inter-rater coefficient between 1.00 and -0.12). Errors were most commonly seen with paper questionnaires (83% of errors seen) vs smartphones (17% of errors seen) administered questionnaires with questions with complex skip-patterns being a major source of errors in paper questionnaires. Automated checks and validations in smartphone-administered questionnaires avoided skip-pattern related errors. Incomplete and inconsistent records were more likely seen on paper questionnaires. Conclusion: Compared to paper-based data collection, smartphone technology worked well for data collection in the study, which was conducted in a challenging rural environment in Sudan. This approach provided timely, quality data with fewer errors and inconsistencies compared to paper-based data collection. We recommend this method for future BOLD studies and other population-based studies in similar settings
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.
Background: Primary lymphoedema describes a chronic, frequently progressive, failure of lymphatic drainage. This disorder is frequently genetic in origin, and a multigenerational family in which eight individuals developed postnatal lymphoedema of all four limbs was ascertained from the joint Lymphoedema/Genetic clinic at St George's Hospital.
Methods: Linkage analysis was used to determine a locus, and exome sequencing was employed to look for causative variants.
Results: Linkage analysis revealed cosegregation of a 16.1 Mb haplotype on chromosome 1q42 that contained 173 known or predicted genes. Whole exome sequencing in a single affected individual was undertaken, and the search for the causative variant was focused to within the linkage interval. This approach revealed two novel non-synonymous single nucleotide substitutions within the chromosome 1 locus, in NVL and GJC2. NVL and GJC2 were sequenced in an additional cohort of individuals with a similar phenotype and non-synonymous variants were found in GJC2 in four additional families.
Conclusion: This report demonstrates the power of exome sequencing efficiently applied to a traditional positional cloning pipeline in disease gene discovery, and suggests that the phenotype produced by GJC2 mutations is predominantly one of 4 limb lymphoedema
Gene conversion in unselected tetrads from multipoint crosses
SEYMOUR FOGEL, DONALD D. HURST, UNIVERSITY OF CALIFORNIA, BERKELEY, CALIFORNIA ; ROBERT K. MORTIMER, BROOKLYN COLLEGE, NEW YORK, N. Y
Tin whisker mitigation by means of a postelectroplating electrochemical oxidation treatment
There are very few studies that have investigated directly the effect of an oxide film on tin whisker growth, since the ‘cracked oxide theory’ was proposed by Tu in 19941. The current study has investigated the effect of an electrochemically produced oxide on tin whisker growth, for both Sn-Cu electrodeposits on Cu and pure Sn electrodeposits on brass. X-ray photoelectron spectroscopy (XPS) has been used to investigate the effect of the applied electrochemical oxidation potential on the oxide film thickness. Focused ion beam (FIB) has been used to prepare cross sections from electrodeposited samples to investigate the influence of the electrochemically formed oxide film on deposit microstructure during long-term room temperature storage. The XPS studies show that the thickness of electrochemically formed oxide film is directly influenced by the applied potential and the total charge passed. Whisker growth studies show that the electrochemical oxidation treatment mitigates whisker growth for both Sn-Cu electrodeposits on Cu and pure Sn electrodeposits on brass. For Sn electrodeposits on brass, the electrochemically formed oxide greatly reduces both the formation of zinc oxide at the surface and the formation of intermetallic compounds, which results in the mitigation of tin whisker growth. For Sn-Cu electrodeposits on Cu, the electrochemically formed oxide has no apparent effect on intermetallic compound formation and acts simply as a physical barrier to hinder tin whisker growth
Teacher interventions in small group work in secondary mathematics and science lessons
Collaborative problem solving, when students work in pairs or small groups on a curriculum-related task, has become an increasingly common feature of classroom education. This paper reports a study of a topic which has received relatively little attention: how teachers can most usefully intervene when students are working in a group, but have encountered some sort of problem. The data used comes from a large scale interventional study of mathematics and science teaching in secondary schools in south east England, in which interactions between teachers and students were recorded in their usual classrooms. We identify the typical problem situations which lead to teachers’ interventions, and describe the different ways teachers were observed to intervene. We examine the different types of intervention, and consider how effective they are in helping group work proceed in a productive manner. Finally, we offer some conclusions about the practical implications of these findings.This is the final version of the article. It was first available from Taylor & Francis via http://dx.doi.org/10.1080/09500782.2015.112536
Understanding the errors of SHAPE-directed RNA structure modeling
Single-nucleotide-resolution chemical mapping for structured RNA is being
rapidly advanced by new chemistries, faster readouts, and coupling to
computational algorithms. Recent tests have shown that selective 2'-hydroxyl
acylation by primer extension (SHAPE) can give near-zero error rates (0-2%) in
modeling the helices of RNA secondary structure. Here, we benchmark the method
using six molecules for which crystallographic data are available: tRNA(phe)
and 5S rRNA from Escherichia coli, the P4-P6 domain of the Tetrahymena group I
ribozyme, and ligand-bound domains from riboswitches for adenine, cyclic
di-GMP, and glycine. SHAPE-directed modeling of these highly structured RNAs
gave an overall false negative rate (FNR) of 17% and a false discovery rate
(FDR) of 21%, with at least one helix prediction error in five of the six
cases. Extensive variations of data processing, normalization, and modeling
parameters did not significantly mitigate modeling errors. Only one varation,
filtering out data collected with deoxyinosine triphosphate during primer
extension, gave a modest improvement (FNR = 12%, and FDR = 14%). The residual
structure modeling errors are explained by the insufficient information content
of these RNAs' SHAPE data, as evaluated by a nonparametric bootstrapping
analysis. Beyond these benchmark cases, bootstrapping suggests a low level of
confidence (<50%) in the majority of helices in a previously proposed
SHAPE-directed model for the HIV-1 RNA genome. Thus, SHAPE-directed RNA
modeling is not always unambiguous, and helix-by-helix confidence estimates, as
described herein, may be critical for interpreting results from this powerful
methodology.Comment: Biochemistry, Article ASAP (Aug. 15, 2011
Coulomb-nuclear interference in the breakup of Be
Within a theory of breakup reactions formulated in the framework of the post
form distorted wave Born approximation, we calculate contributions of the pure
Coulomb and the pure nuclear breakup as well as those of their interference
terms to a variety of cross sections in breakup reactions of the one-neutron
halo nucleus Be on a number of target nuclei. In contrast to the
assumption often made, the Coulomb-nuclear interference terms are found to be
non-negligible in case of exclusive cross sections of the fragments emitted in
this reaction on medium mass and heavy target nuclei. The consideration of the
nuclear breakup leads to a better description of such data.Comment: 9 pages, latex, 2 figures, to be published in Phys. Rev. C (Rapid
Communication
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