Floppy closing door epiglottis treated successfully with an mhealth application based on myofunctional therapy: a case report

We introduce the first case reported to date of a floppy closing door epiglottis in an OSA (obstructive sleep apnea) patient treated successfully with an Mhealth smartphone application based on myofunctional therapy

Stamp transferred suspended graphene mechanical resonators for radio-frequency electrical readout

We present a simple micromanipulation technique to transfer suspended graphene flakes onto any substrate and to assemble them with small localized gates into mechanical resonators. The mechanical motion of the graphene is detected using an electrical, radio-frequency (RF) reflection readout scheme where the time-varying graphene capacitor reflects a RF carrier at f=5-6 GHz producing modulation sidebands at f +/- fm. A mechanical resonance frequency up to fm=178 MHz is demonstrated. We find both hardening/softening Duffing effects on different samples, and obtain a critical amplitude of ~40 pm for the onset of nonlinearity in graphene mechanical resonators. Measurements of the quality factor of the mechanical resonance as a function of DC bias voltage Vdc indicate that dissipation due to motion-induced displacement currents in graphene electrode is important at high frequencies and large Vdc

Guided self-assembly of lateral InAs/GaAs quantum-dot molecules for single molecule spectroscopy

We report on the growth and characterization of lateral InAs/GaAs (001) quantum-dot molecules (QDMs) suitable for single QDM optical spectroscopy. The QDMs, forming by depositing InAs on GaAs surfaces with self-assembled nanoholes, are aligned along the [] direction. The relative number of isolated single quantum dots (QDs) is substantially reduced by performing the growth on GaAs surfaces containing stepped mounds. Surface morphology and X-ray measurements suggest that the strain produced by InGaAs-filled nanoholes superimposed to the strain relaxation at the step edges are responsible for the improved QDM properties. QDMs are Ga-richer compared to single QDs, consistent with strain- enhanced intermixing. The high optical quality of single QDMs is probed by micro-photoluminescence spectroscopy in samples with QDM densities lower than 108 cm−2

Prospects for heavy supersymmetric charged Higgs boson searches at hadron colliders

We investigate the production of a heavy charged Higgs boson at hadron colliders within the context of the MSSM. A detailed study is performed for all important production modes and basic background processes for the t\bar{t}b\bar{b} signature. In our analysis we include effects of initial and final state showering, hadronization, and principal detector effects. For the signal production rate we include the leading SUSY quantum effects at high \tan\beta>~ mt/mb. Based on the obtained efficiencies for the signal and background we estimate the discovery and exclusion mass limits of the charged Higgs boson at high values of \tan\beta. At the upgraded Tevatron the discovery of a heavy charged Higgs boson (MH^+ >~ 200 GeV) is impossible for the tree-level cross-section values. However, if QCD and SUSY effects happen to reinforce mutually, there are indeed regions of the MSSM parameter space which could provide 3\sigma evidence and, at best, 5\sigma charged Higgs boson discovery at the Tevatron for masses M_H^+<~ 300 GeV and M_H^+<~ 250 GeV, respectively, even assuming squark and gluino masses in the (500-1000) GeV range. On the other hand, at the LHC one can discover a H^+ as heavy as 1 TeV at the canonical confidence level of 5\sigma; or else exclude its existence at 95% C.L. up to masses ~ 1.5 TeV. Again the presence of SUSY quantum effects can be very important here as they may shift the LHC limits by a few hundred GeV.Comment: Latex2e, 44 pages, 15 figures, 6 tables, uses JHEP3.sty, axodraw.sty. Comments added. Discussion on QCD factors clarified. Added discussion on uncertainties. Change of presentation of Tables 4 and 5 and Fig.6. Results and conclusions unchanged. Version accepted in JHE

A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.

We conducted a multi-stage, genome-wide association study of bladder cancer with a primary scan of 591,637 SNPs in 3,532 affected individuals (cases) and 5,120 controls of European descent from five studies followed by a replication strategy, which included 8,382 cases and 48,275 controls from 16 studies. In a combined analysis, we identified three new regions associated with bladder cancer on chromosomes 22q13.1, 19q12 and 2q37.1: rs1014971, (P = 8 × 10⁻¹²) maps to a non-genic region of chromosome 22q13.1, rs8102137 (P = 2 × 10⁻¹¹) on 19q12 maps to CCNE1 and rs11892031 (P = 1 × 10⁻⁷) maps to the UGT1A cluster on 2q37.1. We confirmed four previously identified genome-wide associations on chromosomes 3q28, 4p16.3, 8q24.21 and 8q24.3, validated previous candidate associations for the GSTM1 deletion (P = 4 × 10⁻¹¹) and a tag SNP for NAT2 acetylation status (P = 4 × 10⁻¹¹), and found interactions with smoking in both regions. Our findings on common variants associated with bladder cancer risk should provide new insights into the mechanisms of carcinogenesis

A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.

We conducted a multi-stage, genome-wide association study of bladder cancer with a primary scan of 591,637 SNPs in 3,532 affected individuals (cases) and 5,120 controls of European descent from five studies followed by a replication strategy, which included 8,382 cases and 48,275 controls from 16 studies. In a combined analysis, we identified three new regions associated with bladder cancer on chromosomes 22q13.1, 19q12 and 2q37.1: rs1014971, (P = 8 × 10⁻¹²) maps to a non-genic region of chromosome 22q13.1, rs8102137 (P = 2 × 10⁻¹¹) on 19q12 maps to CCNE1 and rs11892031 (P = 1 × 10⁻⁷) maps to the UGT1A cluster on 2q37.1. We confirmed four previously identified genome-wide associations on chromosomes 3q28, 4p16.3, 8q24.21 and 8q24.3, validated previous candidate associations for the GSTM1 deletion (P = 4 × 10⁻¹¹) and a tag SNP for NAT2 acetylation status (P = 4 × 10⁻¹¹), and found interactions with smoking in both regions. Our findings on common variants associated with bladder cancer risk should provide new insights into the mechanisms of carcinogenesis

HTLV-1 infection in solid organ transplant donors and recipients in Spain

Background: HTLV-1 infection is a neglected disease, despite infecting 10–15 million people worldwide and severe illnesses develop in 10% of carriers lifelong. Acknowledging a greater risk for developing HTLV-1 associated illnesses due to immunosuppression, screening is being widely considered in the transplantation setting. Herein, we report the experience with universal HTLV testing of donors and recipients of solid organ transplants in a survey conducted in Spain. Methods: All hospitals belonging to the Spanish HTLV network were invited to participate in the study. Briefly, HTLV antibody screening was performed retrospectively in all specimens collected from solid organ donors and recipients attended since the year 2008. Results: A total of 5751 individuals were tested for HTLV antibodies at 8 sites. Donors represented 2312 (42.2%), of whom 17 (0.3%) were living kidney donors. The remaining 3439 (59.8%) were recipients. Spaniards represented nearly 80%. Overall, 9 individuals (0.16%) were initially reactive for HTLV antibodies. Six were donors and 3 were recipients. Using confirmatory tests, HTLV-1 could be confirmed in only two donors, one Spaniard and another from Colombia. Both kidneys of the Spaniard were inadvertently transplanted. Subacute myelopathy developed within 1 year in one recipient. The second recipient seroconverted for HTLV-1 but the kidney had to be removed soon due to rejection. Immunosuppression was stopped and 3 years later the patient remains in dialysis but otherwise asymptomatic. Conclusion: The rate of HTLV-1 is low but not negligible in donors/recipients of solid organ transplants in Spain. Universal HTLV screening should be recommended in all donor and recipients of solid organ transplantation in Spain. Evidence is overwhelming for very high virus transmission and increased risk along with the rapid development of subacute myelopath

Report of the Snowmass 2013 energy frontier QCD working group

This is the summary report of the energy frontier QCD working group prepared for Snowmass 2013. We review the status of tools, both theoretical and experimental, for understanding the strong interactions at colliders. We attempt to prioritize important directions that future developments should take. Most of the efforts of the QCD working group concentrate on proton-proton colliders, at 14 TeV as planned for the next run of the LHC, and for 33 and 100 TeV, possible energies of the colliders that will be necessary to carry on the physics program started at 14 TeV. We also examine QCD predictions and measurements at lepton-lepton and lepton-hadron colliders, and in particular their ability to improve our knowledge of strong coupling constant and parton distribution functions.Comment: 62 pages, 31 figures, Snowmass community summer study 201

Mowat-Wilson syndrome: growth charts

Background Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of theZEB2gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations of which congenital heart defects and urogenital anomalies are the most frequent ones. To date, a clear description of the physical development of MWS patients does not exist. The aim of this study is to provide up-to-date growth charts specific for infants and children with MWS. Charts for males and females aged from 0 to 16 years were generated using a total of 2865 measurements from 99 MWS patients of different ancestries. All data were collected through extensive collaborations with the Italian MWS association (AIMW) and the MWS Foundation. The GAMLSS package for the R statistical computing software was used to model the growth charts. Height, weight, body mass index (BMI) and head circumference were compared to those from standard international growth charts for healthy children. Results In newborns, weight and length were distributed as in the general population, while head circumference was slightly smaller, with an average below the 30th centile. Up to the age of 7 years, weight and height distribution was shifted to slightly lower values than in the general population; after that, the difference increased further, with 50% of the affected children below the 5th centile of the general population. BMI distribution was similar to that of non-affected children until the age of 7 years, at which point values in MWS children increased with a less steep slope, particularly in males. Microcephaly was sometimes present at birth, but in most cases it developed gradually during infancy; many children had a small head circumference, between the 3rd and the 10th centile, rather than being truly microcephalic (at least 2 SD below the mean). Most patients were of slender build. Conclusions These charts contribute to the understanding of the natural history of MWS and should assist pediatricians and other caregivers in providing optimal care to MWS individuals who show problems related to physical growth. This is the first study on growth in patients with MWS