The poetical works of John Milton

XIII, 554 p., [1] h. de lám

KBG syndrome presenting with brachydactyly type E

We report the case of a young woman who presented at age 10 years with height on the tenth centile, brachydactyly type E and mild developmental delay. Biochemistry and hormonal profiles were normal. Differential diagnoses considered included Albright hereditary osteodystrophy without hormone resistance (a.k.a pseudopseudohypoparathyroidism), 2q37 microdeletion syndrome and acrodysostosis. She had a normal karyotype and normal FISH of 2q37. Whole genome sequencing (WGS) identified a mutation in the ANKRD11 gene associated with KBG syndrome. We review the clinical features of the genetic syndromes considered, and suggest KBG syndrome be considered in patients presenting with syndromic brachydactyly type E, especially if short stature and developmental delay are also present

Non-destructive testing and assessment of dynamic incompatibility between third-party piping and drain valve systems: An industrial case study

This paper presents the outcome of an industrial case study that involved condition monitoring of piping system that showed signs of excess fatigue due to flow-induced vibration. Due to operational requirements, a novel non-destructive assessment stratagem was adopted using different vibration analysis techniques - such as experimental modal analysis and operating deflection shapes - and complemented by visual inspection. Modal analysis carried out near a drain valve showed a dynamic weakness problem (several high-frequency flow-induced vibration frequency peaks), hence condition-based monitoring was used. This could easily be linked to design problem associated with the dynamic incompatibility due to dissimilar stiffness between two third-party supplied pipe and valve systems. It was concluded that this is the main cause for these problem types especially when systems are supplied by third parties, but assembled locally, a major cause of dynamic incompatibility. It is the local assembler's responsibility to develop skills and expertise needed to sustain the operation of these plants. This paper shows the technique used as result of one such initiative. Since high amplitude, low-frequency displacement can cause low cycle fatigue, attention must be paid to ensure flow remains as steady state as possible. The ability to assess the level of design incompatibility and the level of modification required using non-destructive testing is vital if these systems are to work continuously. © 2014 Taylor & Francis

Passive \u3cem\u3er\u3c/em\u3eGE or Developmental Gene-Environment Cascade? An Investigation of the Role of Xenobiotic Metabolism Genes in the Association Between Smoke Exposure During Pregnancy and Child Birth Weight

There is considerable evidence that smoke exposure during pregnancy (SDP) environmentally influences birth weight after controlling for genetic influences and maternal characteristics. However, maternal smoking during pregnancy—the behavior that leads to smoke exposure during pregnancy—is also genetically-influenced, indicating the potential role of passive gene-environment correlation. An alternative to passive gene-SDP correlation is a cascading effect whereby maternal and child genetic influences are causally linked to prenatal exposures, which then have an ‘environmental’ effect on the development of the child’s biology and behavior. We describe and demonstrate a conceptual framework for disentangling passive rGE from this cascading GE effect using a systems-based polygenic scoring approach comprised of genes shown to be important in the xenobiotic (substances foreign to the body) metabolism pathway. Data were drawn from 5044 families from the Avon Longitudinal Study of Parents and Children with information on maternal SDP, birth weight, and genetic polymorphisms in the xenobiotic pathway. Within a k-fold cross-validation approach (k = 5), we created weighted maternal and child polygenic scores using 18 polymorphisms from 10 genes that have been implicated in the xenobiotic metabolism pathway. Mothers and children shared variation in xenobiotic metabolism genes. Amongst mothers who smoked during pregnancy, neither maternal nor child xenobiotic metabolism polygenic scores were associated with a higher likelihood of smoke exposure during pregnancy, or the severity of smoke exposure during pregnancy (and therefore, neither proposed mechanism was supported), or with child birth weight. SDP was consistently associated with lower child birth weight controlling for the polygenic scores, maternal educational attainment, social class, psychiatric problems, and age. Limitations of the study design and the potential of the framework using other designs are discussed

The controversial drive for intervention with ophthalmologic screening for Candida bloodstream infections

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Inter-individual variation in the adaptive response to heat acclimation

Aim: To investigate inter-individual variance in adaptive responses to heat acclimation (HA).Methods: 17 males (VO2max=58.8(8.4) ml·kg-1·min-1) undertook 10-days (exercise + heat stress [40°C, 50%RH]) HA. Adaptation was assessed by heat stress tests (HST; 60–minutes cycling, 35% peak power output) pre- and post-HA. Results: Inter-individual variability was evident in adaptive responses e.g. mean(range) reduction in end-exercise Tre=-0.70(-0.20 to - 1.32)°C, but, in the main, the variance in adaptation was unrelated across indices (thermal sudomotor, cardiovascular, haematological), indicating independence between adaptation indices. Variance in adaptive responses was not correlated with aerobic capacity, history of previous HA, or the accrued thermal-dose. Some responses to the initial HST were related to the subsequent adaptations e.g. ∆T̅sk during the initial HST and the reduction in the within HST ΔTre after HA (r=-0.676), but responses to the initial HST may also have been influenced by HST design e.g. ΔTre correlated with metabolic heat production (r=0.609). Metabolic heat production also correlated with the reduction in the within HST ΔTre after HA (r=-0.514). Summary: HA indices are mainly independent; ‘low’, or ‘high’, responders on one index do not necessarily demonstrate similar response across other indices. Variance in HA responses was not related to aerobic capacity, previous HA, or thermal-dose. Thermo-physiological responses to a HST might identify individuals who will benefit from HA. However, some initial responses are influenced by HST design, which may also affect the scope for demonstrating adaption. Conclusion: Variance in the HA response remains largely unaccounted for and future studies should identify factors contributing to this variance

Nonlinear r-Modes in Neutron Stars: Instability of an unstable mode

We study the dynamical evolution of a large amplitude r-mode by numerical simulations. R-modes in neutron stars are unstable growing modes, driven by gravitational radiation reaction. In these simulations, r-modes of amplitude unity or above are destroyed by a catastrophic decay: A large amplitude r-mode gradually leaks energy into other fluid modes, which in turn act nonlinearly with the r-mode, leading to the onset of the rapid decay. As a result the r-mode suddenly breaks down into a differentially rotating configuration. The catastrophic decay does not appear to be related to shock waves at the star's surface. The limit it imposes on the r-mode amplitude is significantly smaller than that suggested by previous fully nonlinear numerical simulations.Comment: Published in Phys. Rev. D Rapid Comm. 66, 041303(R) (2002

Constraints on the SU(3) Electroweak Model

We consider a recent proposal by Dimopoulos and Kaplan to embed the electroweak SU(2)_L X U(1)_Y into a larger group SU(3)_W X SU(2) X U(1) at a scale above a TeV. This idea is motivated by the prediction for the weak mixing angle sin^2 theta_W = 1/4, which naturally appears in these models so long as the gauge couplings of the high energy SU(2) and U(1) groups are moderately large. The extended gauge dynamics results in new effective operators that contribute to four-fermion interactions and Z pole observables. We calculate the corrections to these electroweak precision observables and carry out a global fit of the new physics to the data. For SU(2) and U(1) gauge couplings larger than 1, we find that the 95% C.L. lower bound on the matching (heavy gauge boson mass) scale is 11 TeV. We comment on the fine-tuning of the high energy gauge couplings needed to allow matching scales above our bounds. The remnants of SU(3)_W breaking include multi-TeV SU(2)_L doublets with electric charge (+-2,+-1). The lightest charged gauge boson is stable, leading to cosmological difficulties.Comment: 17 pages, LaTeX, 4 figures embedded, uses JHEP.cl

Anomalous metamagnetism in the low carrier density Kondo lattice YbRh3Si7

We report complex metamagnetic transitions in single crystals of the new low carrier Kondo antiferromagnet YbRh3Si7. Electrical transport, magnetization, and specific heat measurements reveal antiferromagnetic order at T_N = 7.5 K. Neutron diffraction measurements show that the magnetic ground state of YbRh3Si7 is a collinear antiferromagnet where the moments are aligned in the ab plane. With such an ordered state, no metamagnetic transitions are expected when a magnetic field is applied along the c axis. It is therefore surprising that high field magnetization, torque, and resistivity measurements with H||c reveal two metamagnetic transitions at mu_0H_1 = 6.7 T and mu_0H_2 = 21 T. When the field is tilted away from the c axis, towards the ab plane, both metamagnetic transitions are shifted to higher fields. The first metamagnetic transition leads to an abrupt increase in the electrical resistivity, while the second transition is accompanied by a dramatic reduction in the electrical resistivity. Thus, the magnetic and electronic degrees of freedom in YbRh3Si7 are strongly coupled. We discuss the origin of the anomalous metamagnetism and conclude that it is related to competition between crystal electric field anisotropy and anisotropic exchange interactions.Comment: 23 pages and 4 figures in the main text. 7 pages and 5 figures in the supplementary materia