A Microcryostat for Refrigeration at 1.8 K

A microcryostat has been developed in the Central Cryogenic Laboratory at CERN with the purpose of cooling a prototype beam loss monitor for the LHC, based on bolometry at 1.8 K. Its characteristics a re the very compact volume (some cm3 LHe) ensuring short cooldown-warmup times, and its low heat losses (~ 8 mW). The cryostat can be mounted on top of a small dewar through a rigid straight transfer line for continuous feeding

A Large-scale Test Facility for Heat Load Measurements down to 1.9 K

Laboratory-scale tests aimed at minimizing the thermal loads of the LHC magnet cryostat have gone along with the development of the various mechanical components. For final validation of the industrial design with respect to heat inleaks between large surfaces at different temperatures, a full-scale test cryostat has been constructed. The facility reproduces the same pattern of temperature levels as the LHC dipole cryostat, avoiding the heat inleaks from local components like supports and feedthroughs and carefully minimizing fringe effects due to the truncated geometry of the facility with respect to the LHC cryostats serial layout. Thermal loads to the actively cooled radiation screen, operated between 50 K and 65 K, are measured by enthalpy difference along its length. At 1.9 K, the loads are obtained from the temperature difference across a superfluid helium exchanger. On the beam screen, the electrical power needed to stabilize the temperature at 20 K yields a direct reading of the heat losses. Precise in-situ calibration is achieved by subcooling the thermal screen, thereby zeroing radiative heat loads. Minimizing fringe effects has been rewarded by a high precision measurement, yielding one of the more accurate quantifications to date of an industrial application of MLI. The influence of possible openings in the thermal screen is monitored both at the 1.9 K bath and with a radiation sensitive bolometer

Cryogenic R&D at the CERN Central Cryogenic Laboratory

The Central Cryogenic Laboratory operates since many years at CERN in the framework of cryogenic R&D for accelerators and experiments. The laboratory hosts several experimental posts for small cryogen ic tests, all implemented with pumping facility for GHe and vacuum, and is equipped with a He liquefier producing 6.105 l/year, which is distributed in dewars. Tests include thermomechanical qualifica tion of structural materials, cryogenic and vacuum qualification of prototypes, evaluation of thermal losses of components. Some of the most relevant results obtained at the laboratory in the last yea rs are outlined in this paper

Influence of Thermal Cycling on Cryogenic Thermometers

The stringent requirements on temperature control of the superconducting magnets for the Large Hadron Collider (LHC), impose that the cryogenic temperature sensors meet compelling demands such as long-term stability, radiation hardness, readout accuracy better than 5 mK at 1.8 K and compatibility with industrial control equipment. This paper presents the results concerning long-term stability of resistance temperature sensors submitted to cryogenic thermal cycles. For this task a simple test facility has been designed, constructed and put into operation for cycling simultaneously 115 cryogenic thermometers between 300 K and 4.2 K. A thermal cycle is set to last 71/4 hours: 3 hours for either cooling down or warming up the sensors and 1 respectively 1/4 hour at steady temperature conditions at each end of the temperature cycle. A Programmable Logic Controller (PLC) drives automatically this operation by reading 2 thermometers and actuating on 3 valves and 1 heater. The first thermal cycle was accomplished in a temperature calibration facility and all the thermometers were recalibrated again after 10, 25 and 50 cycles. Care is taken in order not to expose the sensing elements to moisture that can reputedly affect the performance of some of the sensors under investigation. The temperature sensors included Allen-Bradley and TVO carbon resistors, Cernox, thin-film germanium, thin-film and wire-wound Rh-Fe sensors

Thermal Characterization of the HeII LHC Heat Exchanger Tube

The LHC magnet cooling scheme is based on a HeII bayonet heat exchanger, which acts as a quasi isothermal heat sink. In order to assess the thermal performance of the oxygen free, annealed/cold worked copper tube, measurements of the total thermal conductance of the tube were performed in a laboratory set-up. This paper describes the experimental technique, which permits to separate the contributio n of the Kapitza interface resistance from the total transverse conductance. The influence of the surface treatment on the Kapitza resistance is also discussed

Heat Flow Measurements on LHC Components

The refrigeration and liquefaction capacity necessary to operate at 1.9 K the 27 km long string of superconducting magnets of the LHC has been determined on the basis of heat load estimates, including static heat inleaks from ambient temperature, resistive heating and dynamic beam-induced heat loads. At all temperature levels, the static heat inleaks determine at least one third of the total heat loads in nominal operating conditions of the machine. Design validation of individual cryocomponents therefore requires a correct estimate of the heat inleaks they induce at all temperature levels, in order not to exceed the allocated heat budget. This paper illustrates the measurements of heat inleaks for several cold components of the future machine, including insulating supports, radiation shields, multi-layer insulation, instrumentation current leads. Distinct methods to determine the heat flow are chosen, depending on the expected heat loads, the temperature range spanned by the heat intercepts, and the working conditions of the component itself

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

RAD21 encodes a key component of the cohesin complex, and variants in RAD21 have been associated with Cornelia de Lange Syndrome (CdLS). Limited information on phenotypes attributable to RAD21 variants and genotype–phenotype relationships is currently published. We gathered a series of 49 individuals from 33 families with RAD21 alterations [24 different intragenic sequence variants (2 recurrent), 7 unique microdeletions], including 24 hitherto unpublished cases. We evaluated consequences of 12 intragenic variants by protein modelling and molecular dynamic studies. Full clinical information was available for 29 individuals. Their phenotype is an attenuated CdLS phenotype compared to that caused by variants in NIPBL or SMC1A for facial morphology, limb anomalies, and especially for cognition and behavior. In the 20 individuals with limited clinical information, additional phenotypes include Mungan syndrome (in patients with biallelic variants) and holoprosencephaly, with or without CdLS characteristics. We describe several additional cases with phenotypes including sclerocornea, in which involvement of the RAD21 variant is uncertain. Variants were frequently familial, and genotype–phenotype analyses demonstrated striking interfamilial and intrafamilial variability. Careful phenotyping is essential in interpreting consequences of RAD21 variants, and protein modeling and dynamics can be helpful in determining pathogenicity. The current study should be helpful when counseling families with a RAD21 variation.Spanish Ministry of Science, Innovation and Universities/State Research Agency RTC-2017-6494-1 and RTI2018-094434-B-I00 (MCIU/AEI/FEDER, UE) as well as funds from the European JPIAMR-VRI network “CONNECT” to PG-

Large enhancement of deuteron polarization with frequency modulated microwaves

We report a large enhancement of 1.7 in deuteron polarization up to values of 0.6 due to frequency modulation of the polarizing microwaves in a two liters polarized target using the method of dynamic nuclear polarization. This target was used during a deep inelastic polarized muon-deuteron scattering experiment at CERN. Measurements of the electron paramagnetic resonance absorption spectra show that frequency modulation gives rise to additional microwave absorption in the spectral wings. Although these results are not understood theoretically, they may provide a useful testing ground for the deeper understanding of dynamic nuclear polarization.Comment: 10 pages, including the figures coming in uuencoded compressed tar files in poltar.uu, which also brings cernart.sty and crna12.sty files neede

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

The disconnected (disco)-interacting protein 2 (DIP2) gene was first identified in D. melanogaster and contains a DNA methyltransferase-associated protein 1 (DMAP1) binding domain, Acyl-CoA synthetase domain and AMP-binding sites. DIP2 regulates axonal bifurcation of the mushroom body neurons in D. melanogaster and is required for axonal regeneration in the neurons of C. elegans. The DIP2 homologues in vertebrates, Disco-interacting protein 2 homolog A (DIP2A), Disco-interacting protein 2 homolog B (DIP2B), and Disco-interacting protein 2 homolog C (DIP2C), are highly conserved and expressed widely in the central nervous system. Although there is evidence that DIP2C plays a role in cognition, reports of pathogenic variants in these genes are rare and their significance is uncertain. We present 23 individuals with heterozygous DIP2C variants, all manifesting developmental delays that primarily affect expressive language and speech articulation. Eight patients had de novo variants predicting loss-of-function in the DIP2C gene, two patients had de novo missense variants, three had paternally inherited loss of function variants and six had maternally inherited loss-of-function variants, while inheritance was unknown for four variants. Four patients had cardiac defects (hypertrophic cardiomyopathy, atrial septal defects, and bicuspid aortic valve). Minor facial anomalies were inconsistent but included a high anterior hairline with a long forehead, broad nasal tip, and ear anomalies. Brainspan analysis showed elevated DIP2C expression in the human neocortex at 10-24 weeks after conception. With the cases presented herein, we provide phenotypic and genotypic data supporting the association between loss-of-function variants in DIP2C with a neurocognitive phenotype