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Background: Mutations of the slow skeletal muscle troponin-T1 (TNNT1) gene are a rare cause of nemaline myopathy. The phenotype is characterized by severe amyotrophy and contractures. Death from respiratory insufficiency occurs in infancy. We report on four French Canadians with a novel congenital TNNT1-related myopathy. Methods: Patients underwent MRI of leg muscles, quadriceps biopsy and genetic testing. Wild type or mutated human TNNT1 mRNAs were co-injected with morpholinos in a zebrafish knockdown model to assess their relative abilities to rescue the morphant phenotype. Results: Three adults and one child shared a novel missense homozygous pathogenic variant in the TNNT1 gene. They developed from childhood slowly progressive limb-girdle weakness with spinal rigidity and contractures. They suffered from restrictive lung disease and recurrent episodes of infection-triggered rhabdomyolysis, which were relieved by dantrolene in one patient. Older patients remained ambulatory into their sixties. MRI of leg muscles showed symmetrical atrophy and fatty infiltration in a proximal-to-distal gradient. Biopsies showed multi-minicores, while nemaline rods were seen in half the patients. Wild type TNNT1 mRNA rescued the zebrafish morphants but mutant transcripts failed to rescue the morphants. Conclusions: This study expands the spectrum of TNNT1-related myopathy to include a milder clinical phenotype caused by a functionally-confirmed novel missense mutation.
Norovirus is the leading cause of acute gastroenteritis in the USA. Although secondary household transmission of norovirus is frequently reported in outbreaks, little is known about specific risk factors for susceptibility and infectiousness in the household. Three norovirus outbreaks were investigated and data were collected on individuals exposed in the primary outbreak setting and their household members. Potential individual- and household-level risk factors for susceptibility and infectiousness were assessed using univariate and multivariate generalised linear mixed models. In the univariate models, the secondary attack rate (SAR) was significantly higher when living in a household with two or more primary cases (incidence rate ratio (IRR) = 2·1; 95% confidence interval (CI) 1·37–3·29), more than one primary case with vomiting (IRR = 1·9; CI 1·11–3·37), and at least one primary case with diarrhoea (IRR = 3·0; CI 1·46–6·01). After controlling for other risk factors in the multivariate models, the SAR was significantly higher among those living in a household with two or more primary cases (adjusted IRR = 2·0; CI 1·17–3·47) and at least one primary case with diarrhoea (adjusted IRR = 2·8; CI 1·35–5·93). These findings underscore the importance of maintaining proper hygiene and isolating ill household members to prevent norovirus transmission in the household.
Climate change has been identified as the biggest global health threat of the twenty-first century. Hundreds of millions of people around the world currently suffer from allergic diseases such as asthma and allergic rhinitis (hay fever), and the prevalence of these diseases is increasing. This book is the first authoritative and comprehensive assessment of the many impacts of climate change on allergens, such as pollen and mould spores, and allergic diseases. The international authorship team of leaders in this field explore the topic to a breadth and depth far beyond any previous work. This book will be of value to anyone with an interest in climate change, environmental allergens, and related allergic diseases. It is written at a level that is accessible for those working in related physical, biological, and health and medical sciences, including researchers, academics, clinicians, and advanced students.
Using physical experiments as oracles for algorithms, we can characterise the computational power of classes of physical systems. Here we show that two different physical models of the apparatus for a single experiment can have different computational power. The experiment is the scatter machine experiment (SME), which was first presented in Beggs and Tucker (2007b). Our first physical model contained a wedge with a sharp vertex that made the experiment non-deterministic with constant runtime. We showed that Turing machines with polynomial time and an oracle based on a sharp wedge computed the non-uniform complexity class P/poly. Here we reconsider the experiment with a refined physical model where the sharp vertex of the wedge is replaced by any suitable smooth curve with vertex at the same point. These smooth models of the experimental apparatus are deterministic. We show that no matter what shape is chosen for the apparatus:
(i)the time of detection of the scattered particles increases at least exponentially with the size of the query; and
(ii)Turing machines with polynomial time and an oracle based on a smooth wedge compute the non-uniform complexity class P/log* ⫋ P/poly.
We discuss evidence that many experiments that measure quantities have exponential runtimes and a computational power of P/log*.
Physical and chemical methods of analysis suitable for volumes of Drosophila hæmolymph under I μl. are described. The osmotic pressure of hæmolymph is equivalent to 1·05 per cent NaCl. The pH is 6·6·6·7. Na+, K+, Ca2+, Mg2+, Cl− and PO3−4 occur in concentrations of 56·5, 40·2, 8, 20·8, 42·2 and 2·8 mM/1. Probably the only sugar present is trehalose. A rough analysis for amino-acids indicates that they contribute an amount to the osmotic pressure equivalent to about 0·4 per cent NaCl. These results are discussed in relation to tissue culture.
The resistance of Ln2Ti2O7 (Ln=lanthanide) compounds to radiation damage is an important topic in the understanding and development of new materials by which radioactive nuclear waste can safely be immobilised. A model has been developed, from previously published density functional theory and molecular orbital theory simulations of the band structure for Ln2Ti2O7 materials. This model provides a chemical interpretation of radiation stability.
The passive film stability of several Fe-based amorphous metal formulations have been found to be comparable to that of high-performance Ni-based alloys, and superior to that of stainless steels, based on electrochemical measurements of the passive film breakdown potential and general corrosion rates. Chromium (Cr), molybdenum (Mo) and tungsten (W) provide corrosion resistance; boron (B) enables glass formation; and rare earths such as yttrium (Y) lower critical cooling rate (CCR). The high boron content of this particular amorphous metal also makes it an effective neutron absorber, and suitable for criticality control applications, as discussed in companion publications. Corrosion data for SAM2X5 (Fe49.7Cr17.7Mn1.9Mo7.4W1.6B15.2C3.8Si2.4) is discussed here.