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Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individuals with WSS from five continents to characterize the clinical and molecular spectrum of WSS in diverse populations, to identify physical features that may be more prevalent in White versus Black Indigenous People of Color individuals, to delineate genotype-phenotype correlations, to define developmental milestones, to describe the syndrome through adulthood, and to examine clinicians' differential diagnoses. Sixty-nine of the 82 variants (84%) observed in the study were not previously reported in the literature. Common clinical features identified in the cohort included: developmental delay or intellectual disability (97%), constipation (63.8%), failure to thrive (67.7%), feeding difficulties (66.3%), hypertrichosis cubiti (57%), short stature (57.8%), and vertebral anomalies (46.9%). The median ages at walking and first words were 20 months and 18 months, respectively. Hypotonia was associated with loss of function (LoF) variants, and seizures were associated with non-LoF variants. This study identifies genotype-phenotype correlations as well as race-facial feature associations in an ethnically diverse cohort, and accurately defines developmental trajectories, medical comorbidities, and long-term outcomes in individuals with WSS.

Apatite-nepheline ores of the Khibiny deposits contain the largest phosphorus-bearing resources in the world, and, at the same time, they contain associated valuable components in the rock-forming minerals — apatite, nepheline, sphene and titanium magnetite. Intensive development of the Khibiny deposits with production of only apatite concentrate and a small part of nepheline concentrate resulted in the accumulation of over 1.0 billion tons of wastes in tailing storage facilities and dumps during 90 years of JSC Apatit operation. The possibility of increasing the efficiency of the use of the main concentrates of apatite-nepheline ores of the Khibiny deposits and wastes for their processing is considered through the use of technological developments of the FRC KSC RAS, JSC RIFI and JSC Apatit to obtain traditional and new target products. A fundamentally new approach to the problem of sustainable use of natural resources is focused on establishment of the whole production chain in the region, from mining and processing operations to manufacturers of final high technology products (rare-earth products, welding and construction materials, coloring agents and other materials). They also determine the level of industrial technical progress.

The current "one size fits all" approach to our cognitive aging population is not adequate to close the gap between cognitive health span and lifespan. In this review article, we present a novel model for understanding, preventing, and treating age-related cognitive impairment (ARCI) based on concepts borrowed from precision medicine. We will discuss how multiple risk factors can be classified into risk categories because of their interrelatedness in real life, the genetic variants that increase sensitivity to, or ameliorate, risk for ARCI, and the brain drivers or common mechanisms mediating brain aging. Rather than providing a definitive model of risk for ARCI and cognitive decline, the Precision Aging model is meant as a starting point to guide future research. To that end, after briefly discussing key risk categories, genetic risks, and brain drivers, we conclude with a discussion of steps that must be taken to move the field forward.

© 2014 The Authors European Journal of Heart Failure.Aims We studied the characteristics and clinical outcome related to diuretic response and the effects of serelaxin in patients hospitalized for acute heart failure (AHF).Methods and results RELAX-AHF was

© 2014 Graham et al.We sought to determine whether cognitive function in stable outpatients with heart failure (HF) is affected by HF severity. A retrospective, cross-sectional analysis was performed using data from 2, 043 outpatients with systolic HF and

© 2014 The Authors European Journal of Heart Failure.Aims We studied the characteristics and clinical outcome related to diuretic response and the effects of serelaxin in patients hospitalized for acute heart failure (AHF).Methods and results RELAX-AHF was

© 2014 Graham et al.We sought to determine whether cognitive function in stable outpatients with heart failure (HF) is affected by HF severity. A retrospective, cross-sectional analysis was performed using data from 2, 043 outpatients with systolic HF and

Background: Quantitative data on spatial orientation would be valuable not only in assessing the fidelity of flight simulators, but also in evaluation of spatial orientation training. In this study a manual indicator was used for recording the subjective horizontal plane during simulated flight. Methods: In a six-degrees-of-freedom hexapod hydraulic motion platform simulator, simulating an F-16 aircraft, seven fixed-wing student pilots were passively exposed to two flight sequences. The first consisted in a number of coordinated turns with visual contact with the landscape below. The visually presented roll tilt was up to a maximum 67. The second was a takeoff with a cabin pitch up of 10, whereupon external visual references were lost. The subjects continuously indicated, with the left hand on an adjustable plate, what they perceived as horizontal in roll and pitch. There were two test occasions separated by a 3-d course on spatial disorientation. Results: Responses to changes in simulated roll were, in general, instantaneous. The indicated roll tilt was approximately 30% of the visually presented roll. There was a considerable interindividual variability. However, for the roll response there was a correlation between the two occasions. The amplitude of the response to the pitch up of the cabin was approximately 75%; the response decayed much more slowly than the stimulus. Discussion: With a manual indicator for recording the subjective horizontal plane, individual characteristics in the response to visual tilt stimuli may be detected, suggesting a potential for evaluation of simulation algorithms or training programs., QC 20140424

The nature of a dark matter in the Universe can be connected with realization of the (plus/minus) Planck mass in final state of the beta-plus-decay of the nuclei Na-22, Ga-68, etc. and in a gravitational field of sufficient force. This hypothesis (the topological quantum transition - a generalized "displacement current") follows out of the phenomenological model that has explained the anomalies of the orthopositronium, forming in substance by the beta-decay positrons. Vacuumlike state of substance of the positive mass (Gliner, 1965) is structured in this model (the "microstructure" of vacuum) as the long-range "atom" with the Planck mass in the limited macroscopic "volume" of space-time. Accordingly, the negative mass C-field (Hoyle & Narlikar, 1964) plays the role of a compensating field., Comment: 8 pages

The nature of a dark matter in the Universe can be connected with realization of the (plus/minus) Planck mass in final state of the beta-plus-decay of the nuclei Na-22, Ga-68, etc. and in a gravitational field of sufficient force. This hypothesis (the topological quantum transition - a generalized "displacement current") follows out of the phenomenological model that has explained the anomalies of the orthopositronium, forming in substance by the beta-decay positrons. Vacuumlike state of substance of the positive mass (Gliner, 1965) is structured in this model (the "microstructure" of vacuum) as the long-range "atom" with the Planck mass in the limited macroscopic "volume" of space-time. Accordingly, the negative mass C-field (Hoyle & Narlikar, 1964) plays the role of a compensating field., Comment: 8 pages

This article deals with the present stage of development of power plants found on seagoing transports and likely trends in the development of different types of main power plant in the immediate future. The article is based on materials drawn from a study of the characteristics of modern power plants currently in use in Soviet and foreign maritime fleets and trends in the development of various types of power plant. (Author), Trans. of Trudy Tsentral'nogo Nauchno-Issledovatel'Skogo Instituta Morskogo Flota, (USSR) n81 p3-10 1967.

The Fifth Annual Chemical Defense Bioscience Review was held at Johns Hopkins University Applied Physics Laboratory, Columbia, Maryland on 29-31 May 1985. The objective of this review was to present selected research findings in the area of medical defense against chemical warfare agents. This document constitutes the proceedings of that review. Contents of this volume include: Physiology; Enzymes for Protection and Decontamination; Pharmacokinetics and Distribution; Neurotransmitter Effects., See also Appendix 3, ADB104129.

Contents: Fundamental aspects of the theory of probability Laws of probability distribution of random variables Functions of continuous random variables Limiting theorems Random processes Transformations of random processes., Trans. of mono. Teoriya Sluchainykh Protsessov i Ee Primenenie v Radiotekhnike, Moscow, 1957, chaps. 1-6.

Contents: Nonlinear transformations of the normal random process Statistical characteristics of the envelope and phase of a normal random process Passage of normal random process through standard radio equipment sections Power spectra of signals, modulated by random processes Elements of information theory., Trans. of mono. Teoriya Sluchainykh Protsessov i Ee Primenenie v Radiotekhnike, Moscow, 1957, chaps. 7-11 and appendices.

This report is a translation of an article by B. Yu. Lewin in Meteoritics, vXVIII p20-25 1960.

The necessity of a shore-based laboratory for testing of marine power plants, fuels and oils is demonstrated, and a possible list of laboratories and equipment to be included is presented. (Author), Trans. of Tsentralnyi Nauchno-Issledovatelskii Institut Morskogo Flota. Trudy (USSR) n126 p99-108 1970.

Modern statistical radio engineering encompasses two fields of system theory: probabilistic analysis and statistical synthesis. This book is devoted only to the questions of probabilistic analysis. Its basis are the corresponding sections of the second edition of the book Teoriya Sluchaynykh Protsessov i yeye Primeneniye v Radiotekhnike (Random Process Theory and Its Application in Radio Engineering) (Soviet Radio Press, 1960). The book contains new results obtained in recent years. Numerous problems for independent solution are included. Statistical radio engineering is beginning to appear in the programs of the schools of higher learning as an independent subject or as a part of other courses. (Author), Unedited rough draft trans. of mono. Teoreticheskie Osnovy Statisticheskoi Radiotekhniki, Moscow, 1966 p1-728.

An approximation is made of the function of distribution of overshoot length of the envelope of the sum of a sinusoidal signal and normal stationary noise above the threshold level. Comparison is made of calculated curves and experimental data., Unedited rough draft trans. of Radiotekhnika (USSR) 1964, v. 19, no. 1, p. 13-17.

All contemporary investigators in the field of planetary cosmogony consider that the planets were formed from a cold cloud of gas and dust in the vicinity of the sun. However, the opinions of scientists differ as to the origin of the cloud itself and the process of formation of planets from it. The majority consider that the principal process in planet formation was theACCUMULATION OF COLD SOLID PARTICLES. Only the American astronomer Kuiper and Academician V. G. Fesenkov assume the disintegration of a protoplanetary cloud into large, massive protoplanets which subsequently, by decreasing their masses, became the present-day planets. In addition, all scientists except V. G. Fesenkov hold that the earth was formed as a cold body and only after its formation was heated by the accumulation of radioactively generated heat. (Author)