Permutation symmetry for the tomographic probability distribution of a system of identical particles

The symmetry properties under permutation of tomograms representing the states of a system of identical particles are studied. Starting from the action of the permutation group on the density matrix we define its action on the tomographic probability distribution. Explicit calculations are performed in the case of the two-dimensional harmonic oscillator.Comment: 13 pages, latex, no figure

Identification of Epigenetic Regulators of DUX4-fl for Targeted Therapy of Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is caused by epigenetic de-repression of the disease locus, leading to pathogenic misexpression of the DUX4 gene in skeletal muscle. While the factors and pathways involved in normal repression of the FSHD locus in healthy cells have been well characterized, very little is known about those responsible for the aberrant activation of DUX4-fl in FSHD myocytes. Reasoning that DUX4-fl activators might represent useful targets for small molecule inhibition, we performed a highly targeted, candidate-based screen of epigenetic regulators in primary FSHD myocytes. We confirmed several of the strongest and most specific candidates (ASH1L, BRD2, KDM4C, and SMARCA5) in skeletal myocytes from two other unrelated FSHD1 patients, and we showed that knockdown led to reduced levels of DUX4-fl and DUX4-FL target genes, as well as altered chromatin at the D4Z4 locus. As a second mode of validation, targeting the CRISPR/dCas9-KRAB transcriptional repressor to the promoters of several candidates also led to reduced levels of DUX4-fl. Furthermore, these candidates can be repressed by different methods in skeletal myocytes without major effects on certain critical muscle genes. Our results demonstrate that expression of DUX4-fl is regulated by multiple epigenetic pathways, and they indicate viable, druggable candidates for therapeutic target development

An Assessment of Risk of Iodine Deficiency Among Pregnant Women in Sarawak, Malaysia

Previous findings from a state-wide Iodine Deficiency Disorders (IDD) study among pregnant women (PW) in Sarawak indicated that PW are at risk of IDD and further assessment is needed. This paper describes the methodology used in conducting this study for an assessment of risk of iodine deficiency among pregnant women in Sarawak, Malaysia. A total of 30 maternal child health care clinics (MCHCs) were selected using probability proportional to population size (PPS) sampling technique. The PW sample size was calculated based on 95% confidence interval (CI), relative precision of 5%, design effect of 2, anticipated IDD prevalence of 65.0% and non-response rate of 20%. Thus, the total sample size required was 750 (25 respondents per selected MCHC). The WHO Expanded Programme on Immunization (EPI) surveys approach was used to randomly select the first respondent and subsequent respondents were chosen until the required number of PW was met. The required data were obtained through: face-to-face interviews (socio-demographic and food frequency questionnaire), clinical assessments (thyroid size, and hyper/hypothyroidism) and biochemical analysis (urine and blood serum). A total of 677 PW responded in the study with a response rate of 90.2%. Majority of the PW were at second gravida, aged 25-29 years old and of Malay ethnicity. The methodology used in this study was based on International guidelines which may provide state's estimates. All the necessary steps were taken into consideration to ensure valid and reliable findings on current iodine status among PW

Stretching self-interacting, partially directed, flexible and semi-flexible polymers by an external force

We study the model of a partially directed flexible or semi-flexible homopolymer on a square lattice, subject to an externally applied force, in a direction either parallel to, or perpendicular to the preferred direction. The polymer is self-interacting and can therefore undergo a collapse transition. We show that this model can be solved and we obtain the force-temperature phase diagrams which, for the case of flexible polymers, agree with that of Brak et al obtained using a different method. At sufficiently low temperatures, the polymer conformation changes from compact to coil state as the force is increased beyond a critical value. This transition is second or first order for the completely flexible or semi-flexible polymer, respectively.Comment: 17 pages, 8 figure

Dispersion Coefficients by a Field-Theoretic Renormalization of Fluid Mechanics

We consider subtle correlations in the scattering of fluid by randomly placed obstacles, which have been suggested to lead to a diverging dispersion coefficient at long times for high Peclet numbers, in contrast to finite mean-field predictions. We develop a new master equation description of the fluid mechanics that incorporates the physically relevant fluctuations, and we treat those fluctuations by a renormalization group procedure. We find a finite dispersion coefficient at low volume fraction of disorder and high Peclet numbers.Comment: 4 pages, 1 figure; to appear in Phys. Rev. Let

Mesoscopic colonization of a spectral band

We consider the unitary matrix model in the limit where the size of the matrices become infinite and in the critical situation when a new spectral band is about to emerge. In previous works the number of expected eigenvalues in a neighborhood of the band was fixed and finite, a situation that was termed "birth of a cut" or "first colonization". We now consider the transitional regime where this microscopic population in the new band grows without bounds but at a slower rate than the size of the matrix. The local population in the new band organizes in a "mesoscopic" regime, in between the macroscopic behavior of the full system and the previously studied microscopic one. The mesoscopic colony may form a finite number of new bands, with a maximum number dictated by the degree of criticality of the original potential. We describe the delicate scaling limit that realizes/controls the mesoscopic colony. The method we use is the steepest descent analysis of the Riemann-Hilbert problem that is satisfied by the associated orthogonal polynomials.Comment: 17 pages, 2 figures, minor corrections and addition

The microaerophilic microbiota of de-novo paediatric inflammatory bowel disease: the BISCUIT study

<p>Introduction: Children presenting for the first time with inflammatory bowel disease (IBD) offer a unique opportunity to study aetiological agents before the confounders of treatment. Microaerophilic bacteria can exploit the ecological niche of the intestinal epithelium; Helicobacter and Campylobacter are previously implicated in IBD pathogenesis. We set out to study these and other microaerophilic bacteria in de-novo paediatric IBD.</p> <p>Patients and Methods: 100 children undergoing colonoscopy were recruited including 44 treatment naïve de-novo IBD patients and 42 with normal colons. Colonic biopsies were subjected to microaerophilic culture with Gram-negative isolates then identified by sequencing. Biopsies were also PCR screened for the specific microaerophilic bacterial groups: Helicobacteraceae, Campylobacteraceae and Sutterella wadsworthensis.</p> <p>Results: 129 Gram-negative microaerophilic bacterial isolates were identified from 10 genera. The most frequently cultured was S. wadsworthensis (32 distinct isolates). Unusual Campylobacter were isolated from 8 subjects (including 3 C. concisus, 1 C. curvus, 1 C. lari, 1 C. rectus, 3 C. showae). No Helicobacter were cultured. When comparing IBD vs. normal colon control by PCR the prevalence figures were not significantly different (Helicobacter 11% vs. 12%, p = 1.00; Campylobacter 75% vs. 76%, p = 1.00; S. wadsworthensis 82% vs. 71%, p = 0.312).</p> <p>Conclusions: This study offers a comprehensive overview of the microaerophilic microbiota of the paediatric colon including at IBD onset. Campylobacter appear to be surprisingly common, are not more strongly associated with IBD and can be isolated from around 8% of paediatric colonic biopsies. S. wadsworthensis appears to be a common commensal. Helicobacter species are relatively rare in the paediatric colon.</p&gt

Bilateral exostoses of the internal auditory canal

A 54-year-old female patient presented to her physician with a 3-year-old history of bilateral tinnitus and hearing loss. She also complained of paresthesia in the periauricular area. There were no episodes of imbalance or vertigo