High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.

Autosomal-recessive non-syndromic hearing impairment (DFNB) is usually of prelingual onset with a moderate to profound degree of hearing loss. More than 70 DFNB loci have been mapped and ~40 causative genes have been identified. Non-syndromic hearing impairment caused by mutations of DFNB59 (encoding pejvakin) has been described in a couple of families in which affected individuals presented with either auditory neuropathy or hearing loss of cochlear origin.

Characterization of a cartilage-like engineered biomass using a self-aggregating suspension culture model: molecular composition using FT-IRIS.

Maintenance of chondrocyte phenotype and robust expression and organization of macromolecular components with suitable cartilaginous properties is an ultimate goal in cartilage tissue engineering. We used a self-aggregating suspension culture (SASC) method to produce an engineered cartilage, "cartilage tissue analog" (CTA). With an objective of understanding the stability of phenotype of the CTA over long periods, we cultured chondrocytes up to 4 years and analyzed the matrix.

87Rb electron spin resonance on helium nanodroplets: the influence of optical pumping.

Hyperfine resolved electron spin resonance (ESR) measurements of single rubidium ((87)Rb) atoms isolated on superfluid helium nanodroplets are presented. In accordance with our previous work on (85)Rb, we find a relative increase of the hyperfine constant a(HFS) by about 400 ppm, depending on the size of the droplets. In order to optimize the ESR signal intensities, the processes of optical pumping of Rb atoms on helium droplets and of optical detection of the ESR transitions are investigated in detail.

Secreted antiviral entry inhibitory (SAVE) peptides for gene therapy of HIV infection.

Gene therapeutic strategies for human immunodeficiency virus type 1 (HIV-1) infection could potentially overcome the limitations of standard antiretroviral drug therapy (ART). However, in none of the clinical gene therapy trials published to date, therapeutic levels of genetic protection have been achieved in the target cell population for HIV-1. To improve systemic antiviral efficacy, C peptides, which are efficient inhibitors of HIV-1 entry, were engineered for high-level secretion by genetically modified cells.

Search for f(J)(2220) in radiative J/ψ decays.

We present a search for f(J)(2220) production in radiative J/ψ→γf(J)(2220) decays using 460  fb⁻¹ of data collected with the BABAR detector at the SLAC PEP-II e(+)e⁻ collider. The f(J)(2220) is searched for in the decays to K(+)K⁻ and K(S)⁰K(S)⁰. No evidence of this resonance is observed, and 90% confidence level upper limits on the product of the branching fractions for J/ψ→γf(J)(2220) and f(J)(2220)→K(+)K⁻(K(S)⁰K(S)⁰) as a function of spin and helicity are set at the level of 10⁻⁵, below the central values reported by the Mark III experiment.

Development of a murine model of lymph node metastases suitable for immunotoxicity studies.

Introduction: Immunosuppressive drugs are associated with an increased risk of infections and in some cases neoplasia, particularly non-melanoma skin cancers. This paper describes the development of a model to test the effects of immunosuppressive drugs on local invasion and metastases of a squamous cell carcinoma in syngeneic, immunocompetent mice.

Methods: SCC VII cells were labeled with 655 quantum dots (QDs), injected intramuscularly into C3H HEN mice and traffic and progressive growth in the draining popliteal lymph node were evaluated.

Priming of neutrophils and differentiated PLB-985 cells by pathophysiological concentrations of TNF-α is partially oxygen dependent.

Activation of polymorphonuclear leukocytes (PMN) can be modulated to intermediate 'primed' states characterized by enhanced responsiveness to subsequent stimuli. We studied priming in response to TNF-α in human PMN and PLB-985 cells, a myeloid cell line differentiated to a neutrophilic phenotype (PLB-D). PMN generated reactive oxygen species (ROS) in response to TNF-α alone, and NADPH oxidase activity increased in response to stimulation with formyl-Met-Leu-Phe after priming.

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.

Warburg Micro syndrome and Martsolf syndrome are clinically overlapping autosomal recessive conditions characterized by congenital cataracts, microphthalmia, postnatal microcephaly, and developmental delay. The neurodevelopmental and ophthalmological phenotype is more severe in Warburg Micro syndrome in which cerebral malformations and severe motor and mental retardation are common. While biallelic loss-of-function mutations in RAB3GAP1 are present in the majority of patients with Warburg Micro syndrome; a hypomorphic homozygous splicing mutation of RAB3GAP2 has been reported in a single family with Martsolf syndrome.

Critical review of preclinical approaches to evaluate the potential of immunosuppressive drugs to influence human neoplasia.

Many immunosuppressive drugs are associated with an increased risk of B-cell lymphoma, squamous cell carcinoma, and Kaposi sarcoma. Thirteen immunosuppressive drugs have been tested in 2-year carcinogenicity studies (abatacept; azathioprine; busulfan; cyclophosphamide; cyclosporine; dexamethasone; everolimus; leflunomide; methotrexate; mycophenolate mofetil; prednisone; sirolimus; and tacrolimus) and in additional models including neonatal and genetically modified mice; chemical, viral, ultraviolet, and ionizing radiation co-carcinogenesis, and in models with transplanted tumor cells. The purpose of this review is to outline the mechanisms by which immunosuppressive drugs can influence neoplasia, to summarize the available preclinical data on the 13 drugs, and to critically review the performance of the models.

Measurement of D0-D0 mixing parameters using D0 → K(S)(0)π+ π- and D0 → K(S)(0)K+ K- decays.

We report a direct measurement of D0-D0 mixing parameters through a time-dependent amplitude analysis of the Dalitz plots of D(0) → K(S)(0) π+ π- and, for the first time, D0 → K(S)(0)K+ K- decays. The low-momentum pion π(s)(+) in the decay D*+ → D0 π(s)(+) identifies the flavor of the neutral D meson at its production. Using 468.

Measurements of charged current lepton universality and |Vus| using tau lepton decays to e- ν(e) ν(τ), μ- ν(μ) ν(τ), π- ν(τ), and K- ν(τ).

Using 467  fb(-1) of e+e- annihilation data collected with the BABAR detector, we measure (B(τ- → μ- ν(μ) ν(τ)))/(B(τ- → e- ν(e) ν(τ))) =(0.9796±0.0016±0.

Evidence for direct CP violation in the measurement of the Cabbibo-Kobayashi-Maskawa angle γ with B∓ → D(*)K(*)∓ decays.

We report the measurement of the Cabibbo-Kobayashi-Maskawa CP-violating angle γ through a Dalitz plot analysis of neutral D-meson decays to K(S)(0) π+ π- and K(S)(0) K+ K- produced in the processes B∓ → DK∓, B∓ D* K∓ with D* → Dπ(0), Dγ, and B∓ → DK*∓ with K*∓ → K(S)(0) π∓, using 468 million BB pairs collected by the BABAR detector at the PEP-II asymmetric-energy e+ e- collider at SLAC. We measure γ = (68 ± 14 ± 4 ± 3)° (modulo 180°), where the first error is statistical, the second is the experimental systematic uncertainty, and the third reflects the uncertainty in the description of the neutral D decay amplitudes. This result is inconsistent with γ = 0 (no direct CP violation) with a significance of 3.

Test of lepton universality in Υ(1S) decays at BABAR.

The ratio R(τμ)(Υ(1S))=Γ(Υ(1S)→τ+ τ-)/Γ(Υ(1S)→μ+ μ-) is measured using a sample of (121.8±1.2)×10(6)Υ(3S) events recorded by the BABAR detector.

Malassezia pachydermatis and M nana predominate amongst the cutaneous mycobiota of Sphynx cats.

Carriage of Malassezia species yeasts in healthy Sphynx cats was compared with that in Devon Rex cats (DRC), Cornish Rex cats (CRC) and domestic shorthair (DSH) cats. Swab samples from the external ear, anus and claw folds, and contact plate samples from the axillae and groins, were incubated on modified Dixon's agar at 32°C for 7 days. Malassezia species were isolated from all 18 Sphynx cats; M pachydermatis accounted for 118/140 isolates.

Risk factors for morbidity and mortality after single-layer continuous suture for ileocolonic anastomosis.

Aim: The study was designed to determine the suitability of a single-layer continuous anastomosis for ileo-colonic anastomoses and to determine perioperative risk factors for morbidity and mortality in a teaching hospital.

Patients And Methods: Perioperative data of 463 patients undergoing colonic surgery with an ileocolonic anastomosis between 2000 and 2007 were retrospectively reviewed. Outcomes were compared using univariate and multivariate analyses to identify risk factors for morbidity, including anastomotic leakage, and mortality.

2D and 3D radial multi-gradient-echo DCE MRI in murine tumor models with dynamic R*2-corrected R1 mapping.

Dynamic contrast-enhanced MRI is extensively studied to define and evaluate biomarkers for early assessment of vasculature-targeting therapies. In this study, two-dimensional and three-dimensional radial multi-gradient-echo techniques for dynamic R*(2)-corrected R(1) mapping based on the spoiled gradient recalled signal equation were implemented and validated at 4.7 T.

Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders.

Background: Mutations in the gene CHN1 have been described in autosomal dominant Duane's retraction syndrome (DRS) and mutations have been shown to interfere with normal innervation of target eye muscles by oculomotor axons in chick embryos. We screened for CHN1 mutations in patients with various congenital ocular motility disorders.

Methods: Altogether, 29 patients with different congenital ocular motility disorders and a positive family history of congenital ocular motility disturbances or strabismus or bilateral affection or accompanying congenital disorders were enrolled in this study.

Search for charged lepton flavor violation in narrow upsilon decays.

Charged-lepton flavor-violating processes are unobservable in the standard model, but they are predicted to be enhanced in several extensions to the standard model, including supersymmetry and models with leptoquarks or compositeness. We present a search for such processes in a sample of 99x10(6)Upsilon(2S) decays and 117x10(6)Upsilon(3S) decays collected with the BABAR detector. We place upper limits on the branching fractions B(Upsilon(nS)-->e(+/-)tau(-/+)) and B(Upsilon(nS)-->mu(+/-)tau(-/+)) (n=2,3) at the 10(-6) level and use these results to place lower limits of order 1 TeV on the mass scale of charged-lepton flavor-violating effective operators.

Ischemic preconditioning-induced hyperperfusion correlates with hepatoprotection after liver resection.

Aim: To characterize the impact of the Pringle maneuver (PM) and ischemic preconditioning (IP) on total blood supply to the liver following hepatectomies.

Methods: Sixty one consecutive patients who underwent hepatic resection under inflow occlusion were randomized either to receive PM alone (n = 31) or IP (10 min of ischemia followed by 10 min of reperfusion) prior to PM (n = 30). Quantification of liver perfusion was measured by Doppler probes at the hepatic artery and portal vein at various time points after reperfusion of remnant livers.

Searches for Lepton flavor violation in the decays tau{+/-}-->e{+/-}gamma and tau{+/-}-->mu{+/-}gamma.

Searches for lepton-flavor-violating decays of a tau lepton to a lighter mass lepton and a photon have been performed with the entire data set of (963+/-7)x10{6} tau decays collected by the BABAR detector near the Upsilon(4S), Upsilon(3S) and Upsilon(2S) resonances. The searches yield no evidence of signals and we set upper limits on the branching fractions of B(tau{+/-}-->e{+/-}gamma)<3.3x10{-8} and B(tau{+/-}-->mu{+/-}gamma)<4.

Measurement of |V(cb)| and the form-factor slope in B --> Dl- nu(l) decays in events tagged by a fully reconstructed B meson.

We present a measurement of the Cabibbo-Kobayashi-Maskawa matrix element |V(cb)| and the form-factor slope rho2 in B --> Dl- nu(l) decays based on 460x10(6) BB events recorded at the Upsilon(4S) resonance with the BABAR detector. B --> Dl- nu(l) decays are selected in events in which a hadronic decay of the second B meson is fully reconstructed. We measure B(B- --> D0 l- nu(l))/B(B- --> Xl- nu(l)) = (0.

Search for invisible decays of the Upsilon(1S).

We search for invisible decays of the Upsilon(1S) meson using a sample of 91.4 x 10(6) Upsilon(3S) mesons collected at the BABAR/PEP-II B factory. We select events containing the decay Upsilon(3S) --> pi(+)pi(-)Upsilon(1S) and search for evidence of an undetectable Upsilon(1S) decay recoiling against the dipion system.

Precise measurement of the e+e- --> pi+pi-(gamma) cross section with the initial state radiation method at BABAR.

A precise measurement of the cross section of the process e(+)e(-) --> pi(+)pi(-)(gamma) from threshold to an energy of 3 GeV is obtained with the initial state radiation (ISR) method using 232 fb(-1) of data collected with the BABAR detector at e(+)e(-) center-of-mass energies near 10.6 GeV. The ISR luminosity is determined from a study of the leptonic process e(+)e(-) --> mu(+)mu(-)gamma(gamma).