Pulse height resolution of organic scintillators for monoenergeticgamma rays

The pulse height resolution of the NE102A and NE230 organic scintillators has been measured for monoenergetic gamma rays. The measurements were carried out the cylindrical NE102A scintillators and the NE230 scintillator using the gamma-gamma coincidence technique over the gamma-ray energy range 0.5-1.3 MeV. The energy resolution of the 125-mm NE102A detector varies from 22.8 to 13.3% over this energy range, while its energy corresponding to the half height of the Compton edge is 20.3 to 13.1% higher than the maximum energy of Compton electrons. Over the same energy range the energy resolution of the 50-mm NE102A detector varies from 19.6 to 11.5%, and its energy corresponding to the half height of the Compton edge is 12.6 to 6.6% higher than the maximum energy of Compton electrons. The energy resolution of the NE230 scintillator varies from 12.9 to 7.1% over this energy range, while its energy corresponding to the half height of the Compton edge is 10.4 to 2.1% higher than the maximum energy of Compton electron

Pulse height resolution of organic scintillators for monoenergeticgamma rays

The pulse height resolution of the NE102A and NE230 organic scintillators has been measured for monoenergetic gamma rays. The measurements were carried out the cylindrical NE102A scintillators and the NE230 scintillator using the gamma-gamma coincidence technique over the gamma-ray energy range 0.5-1.3 MeV. The energy resolution of the 125-mm NE102A detector varies from 22.8 to 13.3% over this energy range, while its energy corresponding to the half height of the Compton edge is 20.3 to 13.1% higher than the maximum energy of Compton electrons. Over the same energy range the energy resolution of the 50-mm NE102A detector varies from 19.6 to 11.5%, and its energy corresponding to the half height of the Compton edge is 12.6 to 6.6% higher than the maximum energy of Compton electrons. The energy resolution of the NE230 scintillator varies from 12.9 to 7.1% over this energy range, while its energy corresponding to the half height of the Compton edge is 10.4 to 2.1% higher than the maximum energy of Compton electron

Measurement of light output of NE213 and NE102A detectors for2.7-14.5 MeV neutrons

The light output of 125-mm-diameter NE213 and NE102A detectors has been measured for neutron energies ranging from 2.7 to 14.5 MeV. For neutron energies below 6.14 MeV, measurements were carried out using the neutron time-of-flight spectrum from an Am-Be neutron source, while for proton energies above 6.14 MeV, measurements were carried out using neutrons produced from the T(d,n) reaction. For the NE102A detector the measured light output is in good agreement with the data of R.A. Cecil et al., (1979) but for the NE213 detector the light output is 2-15% lower than that for a similar detector. The NE213 detector light output agrees with the data of V. Verbinski et al. (1968

Measurement of light output of NE213 and NE102A detectors for2.7-14.5 MeV neutrons

The light output of 125-mm-diameter NE213 and NE102A detectors has been measured for neutron energies ranging from 2.7 to 14.5 MeV. For neutron energies below 6.14 MeV, measurements were carried out using the neutron time-of-flight spectrum from an Am-Be neutron source, while for proton energies above 6.14 MeV, measurements were carried out using neutrons produced from the T(d,n) reaction. For the NE102A detector the measured light output is in good agreement with the data of R.A. Cecil et al., (1979) but for the NE213 detector the light output is 2-15% lower than that for a similar detector. The NE213 detector light output agrees with the data of V. Verbinski et al. (1968

Measurement of HbA1c and HbA2 by Capillarys 2 Flex Piercing HbA1c programme for simultaneous management of diabetes and screening for thalassemia

Introduction: Thalassemia could interfere with some assays for haemoglobin A1c (HbA1c) measurement, therefore, it is useful to be able to screen for thalassemia while measuring HbA1c. We used Capillarys 2 Flex Piercing (Capillarys 2FP) HbA1c programme to simultaneously measure HbA1c and screen for thalassemia. Materials and methods: Samples from 498 normal controls and 175 thalassemia patients were analysed by Capillarys 2FP HbA1c programme (Sebia, France). For method comparison, HbA1c was quantified by Premier Hb9210 (Trinity Biotech, Ireland) in 98 thalassaemia patients samples. For verification, HbA1c from eight thalassaemia patients was confirmed by IFCC reference method. Results: Among 98 thalassaemia samples, Capillarys 2FP did not provide an HbA1c result in three samples with HbH due to the overlapping of HbBart’s with HbA1c fraction; for the remaining 95 thalassaemia samples, Bland-Altman plot showed 0.00 ± 0.35% absolute bias between two systems, and a significant positive bias above 7% was observed only in two HbH samples. The HbA1c values obtained by Capillarys 2FP were consistent with the IFCC targets (relative bias below ± 6%) in all of the eight samples tested by both methods. For screening samples with alpha (α-) thalassaemia silent/trait or beta (β-) thalassemia trait, the optimal HbA2 cut-off values were ≤ 2.2% and > 2.8%, respectively. Conclusions: Our results demonstrated the Capillarys 2FP HbA1c system could report an accurate HbA1c value in thalassemia silent/trait, and HbA2 value (≤ 2.2% for α-thalassaemia silent/trait and > 2.8% for β-thalassemia trait) and abnormal bands (HbH and/or HbBart’s for HbH disease, HbF for β-thalassemia) may provide valuable information for screening

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy

The solute carrier (SLC) superfamily encompasses >400 transmembrane transporters involved in the exchange of amino acids, nutrients, ions, metals, neurotransmitters and metabolites across biological membranes. SLCs are highly expressed in the mammalian brain; defects in nearly 100 unique SLC-encoding genes (OMIM: https://www.omim.org) are associated with rare Mendelian disorders including developmental and epileptic encephalopathy (DEE) and severe neurodevelopmental disorders (NDDs). Exome sequencing and family-based rare variant analyses on a cohort with NDD identified two siblings with DEE and a shared deleterious homozygous splicing variant in SLC38A3. The gene encodes SNAT3, a sodium-coupled neutral amino acid transporter and a principal transporter of the amino acids asparagine, histidine, and glutamine, the latter being the precursor for the neurotransmitters GABA and glutamate. Additional subjects with a similar DEE phenotype and biallelic predicted-damaging SLC38A3 variants were ascertained through GeneMatcher and collaborations with research and clinical molecular diagnostic laboratories. Untargeted metabolomic analysis was performed to identify novel metabolic biomarkers. Ten individuals from seven unrelated families from six different countries with deleterious biallelic variants in SLC38A3 were identified. Global developmental delay, intellectual disability, hypotonia, and absent speech were common features while microcephaly, epilepsy, and visual impairment were present in the majority. Epilepsy was drug-resistant in half. Metabolomic analysis revealed perturbations of glutamate, histidine, and nitrogen metabolism in plasma, urine, and cerebrospinal fluid of selected subjects, potentially representing biomarkers of disease. Our data support the contention that SLC38A3 is a novel disease gene for DEE and illuminate the likely pathophysiology of the disease as perturbations in glutamine homeostasis

Search For Heavy Pointlike Dirac Monopoles

We have searched for central production of a pair of photons with high transverse energies in $p\bar p$ collisions at $\sqrt{s} = 1.8$ TeV using $70 pb^{-1}$ of data collected with the D\O detector at the Fermilab Tevatron in 1994--1996. If they exist, virtual heavy pointlike Dirac monopoles could rescatter pairs of nearly real photons into this final state via a box diagram. We observe no excess of events above background, and set lower 95% C.L. limits of $610, 870, or 1580 GeV/c^2$ on the mass of a spin 0, 1/2, or 1 Dirac monopole.Comment: 12 pages, 4 figure

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.

NTNG2 encodes netrin-G2, a membrane-anchored protein implicated in the molecular organization of neuronal circuitry and synaptic organization and diversification in vertebrates. In this study, through a combination of exome sequencing and autozygosity mapping, we have identified 16 individuals (from seven unrelated families) with ultra-rare homozygous missense variants in NTNG2; these individuals present with shared features of a neurodevelopmental disorder consisting of global developmental delay, severe to profound intellectual disability, muscle weakness and abnormal tone, autistic features, behavioral abnormalities, and variable dysmorphisms. The variants disrupt highly conserved residues across the protein. Functional experiments, including in silico analysis of the protein structure, in vitro assessment of cell surface expression, and in vitro knockdown, revealed potential mechanisms of pathogenicity of the variants, including loss of protein function and decreased neurite outgrowth. Our data indicate that appropriate expression of NTNG2 plays an important role in neurotypical development