321 research outputs found
Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.
BACKGROUND: Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters.
METHODS: We evaluated clinical and genetic patient data from three different Swiss Neuromuscular Centers.
RESULTS: Thirteen patients from 6 non-related families were included. Age of onset was 18.8 ± 4.3 years. In all patients, diallelic disease-causing mutations were identified in the DYSF gene. Nine patients from 3 non-related families from Central Switzerland carried the identical homozygous mutation, c.3031 + 2 T>C. A possible founder effect was confirmed by haplotype analysis. Three patients from two different families carried the heterozygous mutation, c.1064_1065delAA. Two novel mutations were identified (c.2869 C>T (p.Gln957Stop), c.5928 G>A (p.Trp1976Stop)).
CONCLUSIONS: Our study confirms the phenotypic heterogeneity associated with DYSF mutations. Two mutations (c.3031 + 2 T>C, c.1064_1065delAA) appear common in Switzerland. Haplotype analysis performed on one case (c. 3031 + 2 T>C) suggested a possible founder effect
The Quantity Theory of Money is Valid. The New Keynesians are Wrong!
We test the quantity theory of money (QTM) using a novel approach and a large new sample. We do not follow the usual approach of first differentiating the logarithm of the Cambridge equation to obtain an equation relating the growth rate of real GDP, the growth rate of money and inflation. These variables must then again be ‘integrated’ by averaging in order to obtain stable relationships. Instead we suggest a much simpler procedure for testing directly the stability of the coefficient of the Cambridge equation. For 125 countries and post-war data we find the coefficient to be surprisingly stable. We do not select for high inflation episodes as was done in most empirical studies; inflation rates do not even appear in our data set.
Much work supporting the QTM has been done by economic historians and at the University of Chicago by Milton Friedman and his associates. The QTM was a foundation stone of the monetarist revolution. Subsequently belief in it waned. The currently dominant New Keynesian School, implicitly or explicitly denies the validity of the QTM. We survey this history and argue that the QTM is valid and New Keynesians are wrong
Self-consistent Green's function approaches
We present the fundamental techniques and working equations of many-body
Green's function theory for calculating ground state properties and the
spectral strength. Green's function methods closely relate to other polynomial
scaling approaches discussed in chapters 8 and 10. However, here we aim
directly at a global view of the many-fermion structure. We derive the working
equations for calculating many-body propagators, using both the Algebraic
Diagrammatic Construction technique and the self-consistent formalism at finite
temperature. Their implementation is discussed, as well as the inclusion of
three-nucleon interactions. The self-consistency feature is essential to
guarantee thermodynamic consistency. The pairing and neutron matter models
introduced in previous chapters are solved and compared with the other methods
in this book.Comment: 58 pages, 14 figures, Submitted to Lect. Notes Phys., "An advanced
course in computational nuclear physics: Bridging the scales from quarks to
neutron stars", M. Hjorth-Jensen, M. P. Lombardo, U. van Kolck, Editor
Electric dipole polarizability of Ca
The electric dipole strength distribution in Ca between 5 and 25 MeV
has been determined at RCNP, Osaka, from proton inelastic scattering
experiments at very forward angles. Combined with total photoabsorption data at
higher excitation energy, this enables an extraction of the electric dipole
polarizability (Ca) = 1.92(17) fm. Together with
the measured in Ca, it provides a stringent test of
modern theoretical approaches, including coupled cluster calculations with
chiral effective field theory interactions and state-of-the art energy density
functionals. The emerging picture is that for this medium-mass region dipole
polarizabilities are well described theoretically, with important constraints
for the neutron skin in Ca and related equation of state quantities.Comment: 6 pages, 3 figure
Prevention of bronchial hyperreactivity in a rat model of precapillary pulmonary hypertension
<p>Abstract</p> <p>Background</p> <p>The development of bronchial hyperreactivity (BHR) subsequent to precapillary pulmonary hypertension (PHT) was prevented by acting on the major signalling pathways (endothelin, nitric oxide, vasoactive intestine peptide (VIP) and prostacyclin) involved in the control of the pulmonary vascular and bronchial tones.</p> <p>Methods</p> <p>Five groups of rats underwent surgery to prepare an aorta-caval shunt (ACS) to induce sustained precapillary PHT for 4 weeks. During this period, no treatment was applied in one group (ACS controls), while the other groups were pretreated with VIP, iloprost, tezosentan via an intraperitoneally implemented osmotic pump, or by orally administered sildenafil. An additional group underwent sham surgery. Four weeks later, the lung responsiveness to increasing doses of an intravenous infusion of methacholine (2, 4, 8 12 and 24 μg/kg/min) was determined by using the forced oscillation technique to assess the airway resistance (Raw).</p> <p>Results</p> <p>BHR developed in the untreated rats, as reflected by a significant decrease in ED<sub>50</sub>, the equivalent dose of methacholine required to cause a 50% increase in Raw. All drugs tested prevented the development of BHR, iloprost being the most effective in reducing both the systolic pulmonary arterial pressure (Ppa; 28%, p = 0.035) and BHR (ED<sub>50 </sub>= 9.9 ± 1.7 vs. 43 ± 11 μg/kg in ACS control and iloprost-treated rats, respectively, p = 0.008). Significant correlations were found between the levels of Ppa and ED<sub>50 </sub>(R = -0.59, p = 0.016), indicating that mechanical interdependence is primarily responsible for the development of BHR.</p> <p>Conclusions</p> <p>The efficiency of such treatment demonstrates that re-establishment of the balance of constrictor/dilator mediators via various signalling pathways involved in PHT is of potential benefit for the avoidance of the development of BHR.</p
Geographically touring the eastern bloc: British geography, travel cultures and the Cold War
This paper considers the role of travel in the generation of geographical knowledge of the eastern bloc by British geographers. Based on oral history and surveys of published work, the paper examines the roles of three kinds of travel experience: individual private travels, tours via state tourist agencies, and tours by academic delegations. Examples are drawn from across the eastern bloc, including the USSR, Poland, Romania, East Germany and Albania. The relationship between travel and publication is addressed, notably within textbooks, and in the Geographical Magazine. The study argues for the extension of accounts of cultures of geographical travel, and seeks to supplement the existing historiography of Cold War geography
Potential Output and Fiscal Rules in a Monetary Union Under Asymmetric Information 2nd Ed
Sex and sexuality: An evolutionary view
In this article, I first offer a summary of Darwin’s main ideas, especially relating to sex, and explain how these have been elaborated by more recent evolutionary scholars. I then give an account of the historical divergence between psychoanalysis and classical Darwinian thought, and describe how the early psychoanalyst Sabina Spielrein tried to counter this by addressing some biological themes in her work. Following a review of some contemporary attempts to bring psychoanalysis and evolutionary thought into alignment with each other, I make some suggestions regarding a view of sex and sexuality that would be sound in evolutionary terms while also being helpful in psychoanalytic ones
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging. We established an international consortium, MYO-SEQ, to aid the work-ups of muscle disease patients and to better understand disease etiology. Exome sequencing was applied to 1001 undiagnosed patients recruited from more than 40 neuromuscular disease referral centers; standardized phenotypic information was collected for each patient. Exomes were examined for variants in 429 genes associated with muscle conditions. We identified suspected pathogenic variants in 52% of patients across 87 genes. We detected 401 novel variants, 116 of which were recurrent. Variants in CAPN3, DYSF, ANO5, DMD, RYR1, TTN, COL6A2, and SGCA collectively accounted for over half of the solved cases; while variants in newer disease genes, such as BVES and POGLUT1, were also found. The remaining well-characterized unsolved patients (48%) need further investigation. Using our unique infrastructure, we developed a pathway to expedite muscle disease diagnoses. Our data suggest that exome sequencing should be used for pathogenic variant detection in patients with suspected genetic muscle diseases, focusing first on the most common disease genes described here, and subsequently in rarer and newly characterized disease genes
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