Joint X-ray Research Articles

In the Trenches of the Solar-stellar Connection. V. High-resolution Ultraviolet and X-Ray Observations of Sun-like Stars: The Curious Case of Procyon

Abstract A joint X-ray (0.2–2 keV) and ultraviolet (1150–3000 Å) time-domain study has been carried out on three nearby bright late-type stars, bracketing the Sun in properties. Alpha Cen A (HD 128620: G2 V) is a near twin to the Sun, although slightly more massive and luminous, slightly metal-rich, but older. Alpha Cen B (HD 128621: K1 V) is cooler than the Sun, somewhat less massive and lower in luminosity. Procyon (HD 61421: F5 IV–V) is hotter, more massive and more luminous than the Sun, half the age, but more evolved. Stellar observations were from Chandra X-ray Observatory and Hubble Space Telescope (HST). The Sun provided a benchmark through high-energy spectral scans from solar irradiance satellites and novel high-dispersion full-disk profiles of key UV species—Mg ii, C ii, and Si iv—from the Interface Region Imaging Spectrograph. Procyon’s flux history was strikingly constant at all wavelengths, in contrast to the other three cycling-dynamo stars. Procyon also displays a strong subcoronal (T ∼ 1 × 105 K) emission excess, relative to chromospheric Mg ii (T ≲ 104 K), although its X-rays (T ∼ 2 MK) appear to be more normal. At the same time, the odd sub-Gaussian shapes, and redshifts, of the subgiant’s “hot lines” (such as Si iv and C iv) are remarkably similar to the solar counterparts (and α Cen AB). This suggests a Sun-like origin, namely a supergranulation network supplied by magnetic flux from a noncycling “local dynamo.”

Use of a miniature diamond-anvil cell in a joint X-ray and neutron high-pressure study on copper sulfate pentahydrate.

Single-crystal X-ray and neutron diffraction data are usually collected using separate samples. This is a disadvantage when the sample is studied at high pressure because it is very difficult to achieve exactly the same pressure in two separate experiments, especially if the neutron data are collected using Laue methods where precise absolute values of the unit-cell dimensions cannot be measured to check how close the pressures are. In this study, diffraction data have been collected under the same conditions on the same sample of copper(II) sulfate pentahydrate, using a conventional laboratory diffractometer and source for the X-ray measurements and the Koala single-crystal Laue diffractometer at the ANSTO facility for the neutron measurements. The sample, of dimensions 0.40 × 0.22 × 0.20 mm3 and held at a pressure of 0.71 GPa, was contained in a miniature Merrill-Bassett diamond-anvil cell. The highly penetrating diffracted neutron beams passing through the metal body of the miniature cell as well as through the diamonds yielded data suitable for structure refinement, and compensated for the low completeness of the X-ray measurements, which was only 24% on account of the triclinic symmetry of the sample and the shading of reciprocal space by the cell. The two data-sets were combined in a single 'XN' structure refinement in which all atoms, including H atoms, were refined with anisotropic displacement parameters. The precision of the structural parameters was improved by a factor of up to 50% in the XN refinement compared with refinements using the X-ray or neutron data separately.

Impact of Strengthening and Proprioceptive Exercises on Balance and Activities of Daily Living (ADLS) In Knee Osteoarthritis Patients from West Delhi, Indianpopulation

Background: Knee osteoarthritis (OA)is a chronic joint disease, primarily occurring in aged population. Rehabilitation of knee osteoarthritis aims to reduce pain and disability by strengthening, raising endurance, range of motion, proprioception and improving aerobic fitness. Aim and Objectives: This study aimed to analyse and compare the impact of strengthening and proprioceptive exercises on balance and activities of daily living in knee OAin population of west Delhi, India. Material & Methods- Thirty OA patients were enrolled from Khetarpal hospital, Delhi, after taking ethical approval and informed consent. A study was explained to subjects and data was obtained as per proforma. Age of patients ranged from 50-80 years. Diagnosis was established based on radiological examination shown in the knee joint X-ray. Statistical analysis was performed by using SPSS software (Version 26). Results- Patients treated with the strengthening and proprioceptive exercises showed t-value on Berg balance scale(BBS)as -16.12 and 13.15 respectively, and the parameter of Knee Injury and Osteoarthritis Outcome Score (KOOS) showed -13.21 and 13.481 respectively, were statistically significant. Conclusion-The study groups showed, both the exercises helped reduce pain and improved the balance of daily-based activities. Furthermore, both the groups showed a significant improvement in BBS and KOOS scales.

Effect of Acupotomy Intervention on Fibrosis of Rectus Femoris in Rabbits with Knee Osteoarthritis

<bold>Objective:</bold> To observe the effects of acupotomy intervention on the fibrosis of the rectus femoris in rabbits with knee osteoarthritis from the histological and molecular level, and to reveal the possible mechanism of the needle knife in the treatment of knee osteoarthritis. <sec><title>Methods</title> Twenty-four healthy male New Zealand rabbits were randomly divided into blank group, model group and acupotomy group used by random number table method, with 8 rabbits in each group. Modified Videman method was used to replicate the osteoarthritis model of the knee with left hind limb extended plaster immobility for 6 weeks. Lequesne MG knee joint grade score, X-ray and MRI imaging examination of knee joint and pathological morphology of rectus femoris were confirmed after successful modeling. In acupotomy group, the transfascial focal points of quadriceps femoris muscle were released by acupotomy under the guidance of Jingjin theory, treatment points included Hedingci (the focal lesion point of the foot yangming meridian, located at the attachment of the positive upper margin of the quadriceps tendon and the patella), Binwaishang (the focal lesion point of the foot yangming meridian, located at the attachment of the lateral upper edge of the patella to the lateral femoral muscle tendon), Binneishang (the focal lesion point of the foot yangming meridian, located at the attachment of the medial femoral muscle tendon to the inner upper edge of the patella), once a week, for a total of 4 times of treatment. The blank group and model group were routinely fed and grabbed without intervention. One week after the end of intervention, masson staining was used to detect the changes in the tissue morphology and collagen volume fraction of the rectus femoris to observe the effect of acupotomy on the fibrosis of the rectus femoris in rabbits with knee osteoarthritis. RT-PCR and Western blot were used to detect the mRNA and protein expression levels of type Ⅰ collagen fibers (ColⅠ), vimentin (VIM), and Alpha-smooth muscle actin (α-SMA) in the rectus femoris muscle to observe the effect of acupotomy on the knee osteoarthritis. </sec><sec><title>Results</title> 1) Masson staining results showed that neat red-stained skeletal muscle fibers can be seen in the blank group; skeletal muscle fibers can be seen in the model group damaged and surrounded by a large amount of blue-stained collagen fibers; in the acupotomy group, skeletal muscle fibers can be seen neatly and a small amount of blue-stained collagen fibers wrap around. Compared with the blank group, the collagen volume fraction of rectus femoris muscle in the model group increased, and the difference was statistically significant (<italic>P</italic><0.01). Compared with the model group, the acupotomy group had decreased collagen volume fraction of rectus femoris muscle, and the difference was statistically significant (<italic>P</italic><0.01). 2) RT-PCR results showed that the mRNA expressions of ColⅠ, VIM and α-SMA in the model group were significantly higher than those in the blank group (<italic>P</italic><0.01), while those in the acupotomy group were significantly lower than those in the model group, and the difference was statistically significant (<italic>P</italic><0.01). 3) Western blot results showed that the proteins expressions of ColⅠ, VIM and α-SMA in the model group were significantly higher than those in the blank group (<italic>P</italic><0.01), while those in the acupotomy group were significantly lower than those in the model group, and the difference was statistically significant (<italic>P</italic><0.01). </sec><sec><title>Conclusion</title> Based on the Jingjin theory, the release of quadriceps femoris transfascial focal point by acupotomy can down-regulate the expression levels of mRNA and protein of ColⅠ, VIM, α-SMA, and reduce the degree on fibrosis of rectus femoris muscle, which may be one of the mechanisms of acupotomy for KOA. </sec>

Clinical significance of different imaging manifestations of osteonecrosis of femoral head in the peri-collapse stage

To explore the different imaging manifestations of osteonecrosis of the femoral head (ONFH) and their correlation with the occurrence of pain during the peri-collapse period. The 372 patients (624 hips) with ONFH in the peri-collapse stage who were admitted between December 2016 and October 2019 and met the selection criteria were selected as the research objects. Among them, there were 270 males and 102 females, with an average age of 35.3 years (mean, 15-65 years). There were 120 cases of unilateral hip and 252 cases of bilateral hips. There were 39 cases (39 hips) of traumatic ONFH, 196 cases (346 hips) of hormonal ONFH, 102 cases (178 hips) of alcoholic ONFH, and 35 cases (61 hips) of idiopathic ONFH. Among them, there were 482 hips with pain symptoms and 142 hips without pain. The pain duration was less than 3 months in 212 hips, 3-6 months in 124 hips, 6-12 months in 117 hips, and more than 12 months in 29 hips. According to the Association Research Circulation Osseous (ARCO) staging, the ONFH was rated as stage Ⅱ in 325 hips and stage Ⅲ in 299 hips. The patients were grouped according to ONFH etiology and ARCO staging, and hip joint pain and X-ray film (crescent sign and cystic changes), CT (subchondral bone fractures and cystic changes), and MRI (bone marrow edema, joint effusion, and subchondral hypointensity zone) were compared. Spearman rank correlation was used to determine the correlation between ONFH pain duration and X-ray film, CT, and MRI imaging manifestations. There were significant differences ( P<0.05) between ONFH patients with different etiologies in crescent sign on X-ray film, subchondral bone fracture on CT, and joint effusion on MRI. And there were significant differences ( P<0.05) between ONFH patients with different ARCO stages in hip pain duration and all imaging manifestations. Correlation analysis showed that the pain duration of ONFH patients was correlated with all imaging manifestations ( P<0.05). The cystic change on CT was correlated with the subchondral hypointensity zone and joint effusion grade on MRI, and subchondral hypointensity zone and joint effusion grade on MRI were also correlated ( P<0.05). The cystic changes, subchondral hypointensity zone, and joint effusion are closely related to the collapse of the femoral head and hip pain in patients with ONFH in the peri-collapse stage. The above-mentioned signals in stage Ⅱ ONFH indicate the instability of the femoral head, which is to predict the development of ONFH and the rational choice of hip-preserving treatment methods provides a basis.

PACT

The pressure of hot gas in groups and clusters of galaxies is a key physical quantity, which is directly linked to the total mass of the halo and several other thermodynamical properties. In the wake of previous observational works on the hot gas pressure distribution in massive halos, we have investigated a sample of 31 clusters detected in both the Planck and Atacama Cosmology Telescope (ACT), MBAC surveys. We made use of an optimised Sunyaev-Zeldovich (SZ) map reconstructed from the two data sets and tailored for the detection of the SZ effect, taking advantage of both Planck coverage of large scales and the ACT higher spatial resolution. Our average pressure profile covers a radial range going from 0.04 × R500 in the central parts to 2.5 × R500 in the outskirts. In this way, it improves upon previous pressure-profile reconstruction based on SZ measurements. It is compatible, as well as competitive, with constraints derived from joint X-ray and SZ analysis. This work demonstrates the possibilities offered by large sky surveys of the SZ effect with multiple experiments with different spatial resolutions and spectral coverages, such as ACT and Planck.

Revealing Thermal Comptonization of Accretion Disk Photons in IC 4329A with AstroSat

Abstract We present five simultaneous UV/X-ray observations of IC 4329A by AstroSat performed over a 5 month period. We utilize the excellent spatial resolution of the Ultra-Violet Imaging Telescope on board AstroSat to reliably separate the intrinsic active galactic nucleus (AGN) flux from the host galaxy emission and correct for the Galactic and internal reddening, as well as the contribution from the narrow- and broad-line regions. We detect large-amplitude UV variability, which is unusual for a large black hole mass AGN like IC 4329A, over such a small period. In fact, the fractional variability amplitude is larger in the UV band than in the X-ray band. This demonstrates that the observed UV variability is intrinsic to the disk and not due to X-ray illumination. The joint X-ray spectral analyses of five sets of Soft X-ray Telescope and Large Area X-ray Proportional Counter spectral data reveal a soft X-ray excess component, a narrow iron line (with no indication of a significant Compton hump), and a steepening power law (ΔΓ ∼ 0.21) with increasing X-ray flux. The soft excess component could arise due to thermal Comptonization of the inner disk photons in a warm corona with kT e ∼ 0.26 keV. The UV emission we detect acts as the primary seed photons for the hot corona, which produces the broadband X-ray continuum. The X-ray spectral variability is well described by the cooling of this corona from kT e ∼ 42 to ∼32 keV with increasing UV flux, while the optical depth remains constant at τ ∼ 2.3.

Structural and Spectroscopic Studies of NaCuCr2(PO4)3: A Noncentrosymmetric Phosphate Belonging to the α-CrPO4-Type Compounds

An electron and joint neutron and X-ray diffraction study of the synthetic copper/chromium phosphate NaCuCr2(PO4)3 (NaCuP) is reported. A noncentrosymmetric Imm2 space group belonging to the well-known α-CrPO4 type is observed contrary to what is reported in NaMCr2(PO4)3 (M = Co and Ni) phosphates. The structural model is validated by bond valence sum analysis and charge-distribution (CHARDI) calculations and supported by complementary infrared and Raman spectroscopy investigations. Both Raman spectroscopy and theoretical study by deformation density approach further suggest the presence of Cu2+ (3d9) and Cr2+ (3d4) Jahn-Teller polaron effects as a key factor to the centro Imma to noncentrosymmetric Imm2 phase change.

Hydroxyl Defects in LiFePO4 Cathode Material: DFT+U and an Experimental Study.

Lithium iron phosphate, LiFePO4, a widely used cathode material in commercial Li-ion batteries, unveils a complex defect structure, which is still being deciphered. Using a combined computational and experimental approach comprising density functional theory (DFT)+U and molecular dynamics calculations and X-ray and neutron diffraction, we provide a comprehensive characterization of various OH point defects in LiFePO4, including their formation, dynamics, and localization in the interstitial space and at Li, Fe, and P sites. It is demonstrated that one, two, and four (five) OH groups can effectively stabilize Li, Fe, and P vacancies, respectively. The presence of D (H) at both Li and P sites for hydrothermally synthesized deuterium-enriched LiFePO4 is confirmed by joint X-ray and neutron powder diffraction structure refinement at 5 K that also reveals a strong deficiency of P of 6%. The P occupancy decrease is explained by the formation of hydrogarnet-like P/4H and P/5H defects, which have the lowest formation energies among all considered OH defects. Molecular dynamics simulation shows a rich structural diversity of these defects, with OH groups pointing both inside and outside vacant P tetrahedra creating numerous energetically close conformers, which hinders their explicit localization with diffraction-based methods solely. The discovered conformers include structural water molecules, which are only by 0.04 eV/atom H higher in energy than separate OH defects.

Signatures of large-scale cold fronts in the optically-selected merging cluster HSC J085024+001536

Abstract We represent a joint X-ray, weak-lensing, and optical analysis of the optically-selected merging cluster, HSC J085024+001536, from the Subaru HSC-SSP survey. Both the member galaxy density and the weak-lensing mass map show that the cluster is composed of south-east and north-west components. The two-dimensional weak-lensing analysis shows that the south-east component is the main cluster, and the sub-cluster and main cluster mass ratio is $0.32^{+0.75}_{-0.23}$. The north-west sub-cluster is offset by ∼700 kpc from the main cluster center, and their relative line-of-sight velocity is ∼1300 km s−1 from spectroscopic redshifts of member galaxies. The X-ray emission is concentrated around the main cluster, while the gas mass fraction within a sphere of 1′ radius of the sub-cluster is only $f_{\mathrm{gas}}=4.0^{+2.3}_{-3.3}\%$, indicating that the sub-cluster gas was stripped by ram pressure. An X-ray residual image shows three arc-like excess patterns, of which two are symmetrically located at ∼550 kpc from the X-ray morphological center, and the other is close to the X-ray core. The excess close to the sub-cluster has a cold-front feature where dense-cold gas and thin-hot gas contact. The two outer excesses are tangentially elongated about ∼450–650 kpc, suggesting that the cluster is merged with a non-zero impact parameter. Overall features revealed by the multi-wavelength datasets indicate that the cluster is at the second impact or later. Since the optically-defined merger catalog is unbiased for merger boost of the intracluster medium, X-ray follow-up observations will pave the way to understand merger physics at various phases.

On the oxygen-induced hot cracking in a direct laser deposited Ni-based superalloy

We report on the observation of a novel hot cracking mechanism in a direct laser deposited nickel-based superalloy, using joint electron, X-ray, and atom microscopy. The majority of the observed cracks were related to Ni and Mo oxides formed in grain interiors as well as at grain boundaries. Using atom probe tomography, we detected an intermediate zone between oxide particles and the base alloy, where oxygen existed in solid solution and chemical compositions varied due to the oxide formation. The variation in composition lowered the melting point of the matrix while the oxides promoted stress concentration and crack nucleation, thus causing liquation cracking during reheating.

THU0113 ANTI CARBAMYLATED PROTEIN ANTIBODY IN INDIAN POPULATION WITH RHEUMATOID ARTHRITIS – A BETTER PREDICTOR OF DISEASE OUTCOME

Background:While diagnosis of RA relies mainly on detection of RF and ACCP antibodies at present, anti carbamylated protein antibody which has strong association with severe joint damage and poorer disease outcome1can be found in even healthy individuals years before onset of symptoms of RA2,3thus enabling early initiation of DMARDs and reducing complications of RA.4Objectives:Assess prevalence of anti-CarP Ab in RA patients in India and assess correlation between joint involvement, X-ray erosions and extra articular features between anti-CarP Ab positive and negative RA patients.Methods:Cross-sectional study (2017-2019) conducted among 150 RA patients who met 2010 ACR/EULAR criteria in tertiary referral hospital. Tests for CRP, RF and ACCP were done, DAS28-CRP scores were calculated at presentation &amp; X-ray images of hands and feet obtained.Anti-CarP Ab was tested using ELISA. Cut-off level for positivity was defined using ROC curve as 13.48 U/mL, with specificity 92.73%, sensitivity 85.26%, PPV 95.29% and NPV 78.46%.Results:Venn diagram representing overlap of sero-markersStudy population had 18% males, 82% females, 72% RF+ cases (108), 78% ACCP+ cases (117) and 47.3% anti-CarP Ab+ cases (71).48% of the 25 seronegative (RF-ACCP-) cases tested positive for anti-CarP Ab, indicating its ability in diagnosing more RA cases in conjunction with present markers.Testing association between RF and anti-CarP Ab and between ACCP and anti-CarP Ab proved to be statistically insignificant showing that anti-CarP Ab is independent of the incumbent markers in diagnosing RA.69.4% of RA patients with high disease activity (DAS &gt;3.2) were positive for anti-CarP Ab and showed statistically significant association.Association between DAS28 CRP and anti-CarP AbAlso while 39 of 71 (54.9%) anti-CarP Ab positive RA cases had joint deformities and 23 of 71 (32.4%) of anti-CarP Ab positive cases had extra articular involvement and were statistically significant, 27 of 71 anti-CarP Ab positive cases showed joint erosions in X-ray but was not statistically significant.In comparison, only extra articular involvement showed a statistical significance in ACCP positive patients whereas joint deformities and joint erosions on X-rays showed no correlation to ACCP.Joint DeformityTotalΧ2p valueAbsentPresentanti-CarP antibodyNegative5029795.0090.02563.3%36.7%100.0%Positive32397145.1%54.9%100.0%Total8268150Extra articular featuresTotalΧ2p valueAbsentPresentanti-CarP antibodyNegative6811797.2780.00786.1%13.9%100.0%Positive48237167.6%32.4%100.0%Total11634150Conclusion:Anti-CarP antibody positivity is indicative of increased disease activity (DAS28-CRP score), joint deformities and extra articular involvement in RA patients. Aside from its presence demonstrated early in the course of RA through other studies, its ability in diagnosing RA cases in otherwise seronegative (RF and ACCP negative) population and the high sensitivity, specificity and diagnostic accuracy exhibited paves the way for its routine use as a diagnostic tool in conjunction with RF and ACCP for diagnosing RA and predicting disease outcome.

Hydrogen/deuterium exchange behavior in tetragonal hen egg-white lysozyme crystals affected by solution state.

Neutron diffraction studies of hydrogen/deuterium-exchanged hen egg-white lysozyme were performed by a joint X-ray and neutron refinement to elucidate the hydrogen/deuterium exchange behavior. Large crystals for neutron work, consisting of molecules that were exchanged before crystallization, were obtained by repeatedly adding protein solution to the crystal batch using deuterated precipitant reagent. There are differences in hydrogen/deuterium exchange behavior compared with previous crystallographic or NMR studies, which could be due to intermolecular interactions in the crystal or to different lengths of exchange period.

Relationship between joints bleeding and joint assessment in children with severe haemophilia A

Objective To understand the relationship between joint bleeding and joint disease in hemophilia children, and to provide a theoretical basis for clinical treatment and prognosis. Methods The patients with severe hemophilia A between 1 and 7 years old and with relevant nodal bleeding records were selected.All the patients admitted in Beijing Children′s Hospital, Capital Medical University, and Chengdu New Century Women′s and Children′s Hospital since June 2016 to January 2017.All the joint bleeding of each child was taken as the study joint, and the joint bleeding was collected during the last 3 months.The joints were assessed by using ultrasound, X-ray, magnetic resonance imaging(MRI) and Hemophilia Joint Health Score (HJHS) scoring systems.The correlation analysis was conducted between the joint bleeding, ultrasound, X-ray, MRI and HJHS scores.The correlation analysis was conducted for baseline ultrasound, X-ray, MRI and HJHS scores. Results (1) There were 18 patients enrolled.The mean age was (5.6±1.8) years old.There were 30 joints bleeding in the observation period in total, with the annul median joint bleeding times of 4 (4-16 times), and the annul median target joint bleeding times of 8 (4-16 times). (2) Joint bleeding times of was correlated with ultrasound and X-ray evaluation (r=0.390, P=0.033; r=0.517, P=0.008), and not correlated with HJHS or MRI(all P>0.05). (3) There was significantly positive correlation among ultrasound, X-ray, HJHS and MRI [r=0.815(ultrasound vs.X-ray), r=0.510(ultrasound vs.HJHS), r=0.812(ultrasound vs.MRI), r=0.666(X-ray vs.HJHS), r=0.911(X-ray vs.MRI), r=0.781(HJHS vs.MRI), all P 0.05). Conclusions The results of joint bleeding and joint evaluation are inconsistent.Joint bleeding can not truly reflect the situation of joint diseases.The assessment of hemophilia should include comprehensive evaluation of joint structure, function, activity ability and other aspects to guide the treatment of haemophi-lia children. Key words: Haemophilia A; Child; Bleeding joints; Joint assessment

Weak-lensing Analysis of X-Ray-selected XXL Galaxy Groups and Clusters with Subaru HSC Data

Abstract We present a weak-lensing analysis of X-ray galaxy groups and clusters selected from the XMM-XXL survey using the first-year data from the Hyper Suprime-Cam (HSC) Subaru Strategic Program. Our joint weak-lensing and X-ray analysis focuses on 136 spectroscopically confirmed X-ray-selected systems at 0.031 ≤ z ≤ 1.033 detected in the 25 deg2 XXL-N region, which largely overlaps with the HSC-XMM field. With high-quality HSC weak-lensing data, we characterize the mass distributions of individual clusters and establish the concentration–mass (c–M) relation for the XXL sample, by accounting for selection bias and statistical effects and marginalizing over the remaining mass calibration uncertainty. We find the mass-trend parameter of the c–M relation to be and the normalization to be at and z = 0.3. We find no statistical evidence for redshift evolution. Our weak-lensing results are in excellent agreement with dark-matter-only c–M relations calibrated for recent ΛCDM cosmologies. The level of intrinsic scatter in c 200 is constrained as ( CL), which is smaller than predicted for the full population of ΛCDM halos. This is likely caused in part by the X-ray selection bias in terms of the cool-core or relaxation state. We determine the temperature–mass (T X–M 500) relation for a subset of 105 XXL clusters that have both measured HSC lensing masses and X-ray temperatures. The resulting T X–M 500 relation is consistent with the self-similar prediction. Our T X–M 500 relation agrees with the XXL DR1 results at group scales but has a slightly steeper mass trend, implying a smaller mass scale in the cluster regime. The overall offset in the T X–M 500 relation is at the ∼1.5σ level, corresponding to a mean mass offset of . We also provide bias-corrected, weak-lensing-calibrated M 200 and M 500 mass estimates of individual XXL clusters based on their measured X-ray temperatures.

Clinical characteristics and pathogenic gene analysis in a large pedigree with multiple epiphyseal dysplasia

Objective To provide experimental evidence for genetic counseling and prenatal molecular diagnosis by analyzing the clinical characteristics and screening for pathogenic genes of a five-generation suspected multiple epiphyseal dysplasia (MED) family (17 patients). Methods The family members' medical history, general physical examination and hip joint X-ray examination were collected. Peripheral blood samples of the family members were collected and DNA were extracted from these samples. The exons of clinical genes from probands' DNA were sequenced by High throughput sequencing method. Next Gene software was used to compare and analyze the sequence and INGENUITY software was further used to annotate the mutations in order to find the pathogenic mutations in probands. The suspicious mutations were confirmed in pedigree members by PCR and Sanger sequencing. Results The family consisted of 5 generations and 38 members. Pedigree analysis was consistent with autosomal dominant inheritance. There were 17 patients in the family, and their clinical manifestations showed abnormal walking posture in childhood, pain in hip and knee joints, and typical pathological changes of epiphyseal dysplasia on X-ray. Cartilage oligomeric matrix protein (COMP) gene c.1153G>A (p.Asp385Asn) missense heterozygous mutation was screened in proband, which was genotypically and phenotypically segregated in the pedigree. Conclusion A missense mutation of the comp gene has been identified in a pedigree affected with MED which was the first reported in a big family. Our result is conducive to the further diagnosis and treatment and also provides a molecular basisfor the future prenatal diagnosis. Key words: Osteochondrodysplasias; Pedigree; DNA, intergenic; DNA mutational analysis

Atomistic Modeling of Scattering Curves for Human IgG1/4 Reveals New Structure-Function Insights

Small angle x-ray and neutron scattering are techniques that give solution structures for large macromolecules. The creation of physically realistic atomistic models from known high-resolution structures to determine joint x-ray and neutron scattering best-fit structures offers a, to our knowledge, new method that significantly enhances the utility of scattering. To validate this approach, we determined scattering curves for two human antibody subclasses, immunoglobulin G (IgG) 1 and IgG4, on five different x-ray and neutron instruments to show that these were reproducible, then we modeled these by Monte Carlo simulations. The two antibodies have different hinge lengths that connect their antigen-binding Fab and effector-binding Fc regions. Starting from 231,492 and 190,437 acceptable conformations for IgG1 and IgG4, respectively, joint x-ray and neutron scattering curve fits gave low goodness-of-fit R factors for 28 IgG1 and 2748 IgG4 structures that satisfied the disulphide connectivity in their hinges. These joint best-fit structures showed that the best-fit IgG1 models had a greater separation between the centers of their Fab regions than those for IgG4, in agreement with their hinge lengths of 15 and 12 residues, respectively. The resulting asymmetric IgG1 solution structures resembled its crystal structure. Both symmetric and asymmetric solution structures were determined for IgG4. Docking simulations with our best-fit IgG4 structures showed greater steric clashes with its receptor to explain its weaker FcγRI receptor binding compared to our best-fit IgG1 structures with fewer clashes and stronger receptor binding. Compared to earlier approaches for fitting molecular antibody structures by solution scattering, we conclude that this joint fit approach based on x-ray and neutron scattering data, combined with Monte Carlo simulations, significantly improved our understanding of antibody solution structures. The atomistic nature of the output extended our understanding of known functional differences in Fc receptor binding between IgG1 and IgG4.

Joint radio and X-ray modelling of PSR J1136+1551

ABSTRACT Multiwavelength observations of pulsar emission properties are powerful means to constrain their magnetospheric activity and magnetic topology. Usually a star centred magnetic dipole model is invoked to explain the main characteristics of this radiation. However, in some particular pulsars where observational constraints exist, such simplified models are unable to predict salient features of their multiwavelength emission. This paper aims to carefully model the radio and X-ray emission of PSR J1136+1551 with an off-centred magnetic dipole to reconcile both wavelength measurements. We simultaneously fit the radio pulse profile with its polarization and the thermal X-ray emission from the polar cap hotspots of PSR J1136+1551. We are able to pin down the parameters of the non-dipolar geometry (which we have assumed to be an offset dipole) and the viewing angle, meanwhile accounting for the time lag between X-ray and radio emission. Our model fits the data if the off-centred magnetic dipole lies about 20 per cent below the neutron star surface. We also expect very asymmetric polar cap shapes and sizes, implying non-antipodal and non-identical thermal emission from the hotspots. We conclude that a non-dipolar surface magnetic field is an essential feature to explain the multiwavelength aspects of PSR J1136+1551 and other similar pulsars.

Unraveling the Structure-Property Relationship of Molecular Hole-Transporting Materials for Perovskite Solar Cells.

Clarifying the structural basis and microscopic mechanism lying behind electronic properties of molecular semiconductors is of paramount importance in further material design to enhance the performance of perovskite solar cells. In this paper, three conjugated quasilinear segments of 9,9-dimethyl-9H-fluorene, 9,9-dimethyl-2,7-diphenyl-9H-fluorene, and 2,6-diphenyldithieno[3,2-b:2',3'-d]thiophene are end-capped with two bis(4-methoxyphenyl)amino groups for structurally simple molecular semiconductors Z1, Z2, and Z3, which crystallize in the monoclinic P21/n, triclinic P1̅, and monoclinic C2/c space groups, respectively. The modes and energies of intermolecular noncovalent interactions in various closely packed dimers extracted from single crystals are computed based on the quantum theory of atoms in molecules and energy decomposition analysis. Transfer integrals, reorganization energies, and center-of-mass distances in these dimers as well as band structures of single crystals are also calculated to define the theoretical limit of hole transport and microscopic transport pictures. Joint X-ray diffraction and space-charge-limiting current measurements on solution-deposited films suggest the dominant role of crystallinity in thin-film hole mobility. Photoelectron spectroscopy and photoluminescence measurements show that an enhanced interfacial interaction between the perovskite and Z3 could attenuate the adverse impact of reducing the energetic driving force of hole extraction. Our comparative studies show that the molecular semiconductor Z3 with a properly aligned highest occupied molecular orbital energy level and a high thin-film mobility can be employed for efficient perovskite solar cells, achieving a good power conversion efficiency of 20.84%, which is even higher than that of 20.42% for the spiro-OMeTAD control.

Single-crystal time-of-flight neutron Laue methods: application to manganese catalase from Thermus thermophilus HB27

The IBARAKI biological crystal diffractometer (iBIX) was used in single-crystal time-of-flight neutron diffraction experiments on manganese catalase from Thermus thermophilus. The unit-cell dimensions were 133 × 133 × 133 Å, which is close to the designed maximum limitation of iBIX (135 × 135 × 135 Å). The optimum integration box sizes were set and the degree of integration box overlap was calculated for each Laue spot. Using the overlap ratio as the criterion, the selection of the diffraction intensity data was performed to give a minimum R p.i.m.. Subsequently, diffraction intensity data from Laue spots with overlap ratios ≤0.1 were selected and a complete reflection data set with d min = 2.35 Å was obtained. Joint X-ray and neutron structure refinements were also successfully performed. It was difficult to determine the structures and protonation states of all the oxygen atoms in the manganese cluster owing to the disordered structure. No hydrogen atom was observed on the ordered μ-bridging oxygen atom O1003. Instead, this oxygen atom probably forms a hydrogen bond with Thr39. In addition, the refinements clearly showed the protonation states of the amino acid residues and hydrogen bonds, as observed in Tyr192, Glu167 and Glu280. This first neutron crystal structure of manganese catalase shows that iBIX can provide acceptable diffraction data for neutron single-crystal analyses of at least 2.4 Å resolution within the original targeted unit-cell dimensions of 135 × 135 × 135 Å.