Approximately 90% of achondroplasia (ACH) cases are the result of a de novo mutation, with no phenotypical markers for the unaffected ACH parents being known to date. Here, the hypothesis of the presence of an oral mucosal microvascular abnormality in ACH children and unaffected ACH parents was tested. Two-dimensional vascular network geometry was analyzed in 15 children with sporadic ACH, 30 unaf

Although it has been suggested that mutations of the FLT3, NRAS, KRAS, and PTPN11 genes are particularly frequent in high hyperdiploid (>50 chromosomes) pediatric acute lymphoblastic leukemias (ALLs), this has as yet not been confirmed in a large patient cohort. Furthermore, it is unknown whether mutations of these genes coexist in hyperdiploid cases. We performed mutation analyses of FLT3, NRAS,

OBJECTIVE: To compare the efficacy of a new microwave thermotherapy for treating benign prostatic hyperplasia (BPH), the ProstaLund Feedback Treatment (PLFT, ProstaLund Operations AB, Lund, Sweden) and transurethral resection of the prostate (TURP) in a clinical trial to their effectiveness in clinical practice over 1 year, to estimate their cost over 1 year, and to evaluate the cost of re-interve

Cross sections for midrapidity production of direct photons in p+p collisions at the Relativistic Heavy Ion Collider (RHIC) are reported for transverse momenta of 3 < p(T)< 16 GeV/c. Next-to-leading order perturbative QCD (pQCD) describes the data well for p(T)> 5 GeV/c, where the uncertainties of the measurement and theory are comparable. We also report on the effect of requiring the photons to b

There has been recent speculation that the cores of intermediate-mass stars stripped of their envelopes by tidal interaction with the supermassive black hole in the Galactic Centre could form a population observationally similar to the so-called Sgr A* cluster or 'S' stars, which have close eccentric orbits around the hole. We model the evolution of such stars, and show that the more luminous end

We summarize here the results of a major eight-year investigation of the extraordinarily detailed UV spectrum of the sharp-lined, nonmagnetic, main-sequence, chemically peculiar star chi Lupi (B9.5p HgMn + A2 Vm). The UV observations are composed of 345 Angstrom of the spectrum acquired with the Goddard High Resolution Spectrograph (GHRS) on board the Hubble Space Telescope at an average resolutio

An extensive set of water-H magnetic relaxation dispersion (MRD) data are presented for aqueous agarose and gelatin gels. It is demonstrated that the EMOR model, which was developed in a companion paper to this study (see Halle, this issue), accounts for the dependence of the water-H spin-lattice relaxation rate on resonance frequency over more than four decades and on pH. The parameter values ded

In spinal neurons, plateau potentials serve to amplify neuronal input signals. To a large extent, the underlying persistent inward current is mediated by a subtype of the L-type calcium channel (Ca(v)1.3). In the present investigation, we have studied its distribution and cellular localization in the cat spinal cord by light and electron microscopic immunohistochemistry. The results show that Ca(v

For women and children, especially those who are poor and disadvantaged, to benefit from primary health care, they need to access and use cost-effective interventions for maternal, newborn, and child health. The challenge facing weak health systems is how to deliver such packages. Experiences from countries such as Iran, Malaysia, Sri Lanka, and China, and from projects in countries like Tanzania

We present a calculation scheme with significant modifications and improvements for determining the ionization balance and the ion temperature evolution in an electron beam ion trap (EBIT). The scheme is applied to uranium and nitrogen ions using a specific set of EBIT operating parameters. The calculation results are compared to the experimental data. Rates for the individual atomic processes in

Purpose of review Recently, genome-wide genetic screening of common DNA sequence variants has proven a successful approach to identify novel genetic contributors to complex traits. This review summarizes recent genome-wide association studies for lipid phenotypes, and evaluates the next steps needed to obtain a full picture of genotype-phenotype correlation and apply these findings to inform clini

The ecological niches occupied by various species of Helicobacter are not yet known and the full spectrum of diseases associated with Helicobacter infections are not yet defined. Since these fastidious microaerofilic bacteria require special growth conditions new and improved molecular and serologic diagnostic methods have been developed to increase our understanding of their pathogenesis and viru

Mature human neutrophils contain small amounts of interleukin-8 [CXC chemokine ligand 8 (CXCL-8)], which upon proinflammatory activation, increases significantly. It has been suggested that the CXCL-8 content of resting human neutrophils is stored in the secretory vesicles. Here, we have used a fractionation technique, which allows isolation of these vesicles, and we find that CXCL-8 neither coloc

The aim of the work is to elucidate the influence of plasticity behaviour on the residual stress field in a ferritic reactor pressure vessel steel. To this end, we investigate two compressively pre-loaded compact tension (CT) specimens to generate a mechanical residual stress field. One specimen was subsequently pre-cracked by fatigue before both specimens were measured using high-energy synchrotr

The purpose of the present study was to investigate the association between smoking and the development of bladder cancer. The study population consisted of 429,906 persons participating in the European Prospective Investigation into Cancer and Nutrition (EPIC), 633 of whom developed bladder cancer during the follow-up period. An increased risk of bladder cancer was found for both current- (incide

Type II collagen (CII) is a candidate cartilage-specific autoantigen, which can become post-translationally modified by hydroxylation and glycosylation. T cell recognition of CII is essential for the development of murine collagen-induced arthritis (CIA) and also occurs in rheumatoid arthritis (RA). The common denominator of murine CIA and human RA is the presentation of an immunodominant CII-deri

The paradigm states that inflammatory cells disappear from airway tissues through apoptosis and phagocytosis. However, cells may also be cleared through primary cytolysis, necrosis secondary to apoptosis, or transepithelial migration. This study examines the occurrence of apoptosis, secondary necrosis, and cytolysis of eosinophils in human nasal polyps in vivo and blood eosinophils in vitro. Eosin

We report a 7-year-old girl with spina bifida carrying a complex chromosome abnormality resulting in duplication 16q 12.1 -q22.1. An abnormal karyotype was identified involving the long arm of chromosome 11. and fluorescent in, situ hybridization (FISH) to metaphase chromosomes revealed an insertion of part of chromosome 16 on chromosome 11. A detailed mapping of the chromosome abnormality using w