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1,238 results on '"Johnson M. R."'

1. Validating SoilDoc kit for site‐specific fertilizer recommendations for maize production in Tanzania.

Author

Amuri, Nyambilila A., Semoka, Johnson M. R., Weil, Ray, Mzimbiri, Mhamadi, Gatere, Lydia, Palm, Cheryl, and Sanchez, Pedro

Abstract

SoilDoc is a soil testing kit designed to determine site‐specific fertility status and enhance the accessibility of soil test services for smallholder farmers in the tropics. This study aimed to validate the use of the kit in the Southern Highlands (Mbeya and Njombe) and the Eastern Zone (Mvomero) of Tanzania. Composite soil samples collected from 144 smallholder farm fields were analyzed using 0.01 M CaCl2 extraction solution as per SoilDoc protocols. Out of 144 sites, 24 sites were randomly selected for nutrient response trials. The treatments were (i) absolute control, (ii) N alone, (iii) P Low N (Recommended P and half of recommended N), (iv) recommended NP, (v) NPK, (vi) NPS, (vii) NKS, and (viii) NPKS, replicated three times. Maize yields were subjected to analysis of variance. Relative yield for each nutrient applied was subjected to Cate and Nelson procedure to determine critical ranges. Across all sites, the control yielded least (0.55–5.20 Mg ha−1). Application of NPS, NPK, NP, or NPKS produced the highest yield (2.5–6.9 Mg ha−1). The SoilDoc critical ranges were 0.30–0.48 mg P kg−1; 0.15–0.27 cmolc K kg−1, and 4.1–4.8 mg S kg−1. Mbeya and Njombe soils appeared deficient in either NS, NP, NPK, or NPK, while in Mvomero 53% of soils were deficient in N alone and 31% of soils were deficient in NS. In the absence of field‐specific soil tests, applying N, P, S, and K in Mbeya and Njombe and N and S in Mvomero would be best bets for maximizing yield and return on fertilizer investment. Core Ideas: Maize (Zea mays L.) response to applied N, P, K, and S varied with SoilDoc test results.Application of NPS and NPKS resulted in highest maize yield of 2.5–8.8 Mg ha−1.The SoilDoc critical values are 0.30–0.48 mg P kg−1; 0.15–0.27 cmolc K kg−1, and 4.0–4.8 mg S kg−1.Nutrient‐deficiency groups consist of N alone, S alone, NS, NK, NP, NPK, NPS, NKS, and NPKS. [ABSTRACT FROM AUTHOR]

Published
2024
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2. Pregnancy in Patients with the Fontan Operation

Author

Montanaro, C, primary, Boyle, S, additional, Wander, G, additional, Johnson, M R, additional, Roos-Hesselink, J W, additional, Patel, R, additional, Rafiq, I, additional, Silversides, C K, additional, and Gatzoulis, M A, additional

Published
2024
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3. Structure and dynamics of the fullerene polymer Li4 C60 studied with neutron scattering

Author

Rols, S., Pontiroli, D., Cavallari, C., Gaboardi, M., Aramini, M., Richard, D., Johnson, M. R., Zanotti, J. -M., Suard, E., Maccarini, M., and Ricco, M.

Subjects
Condensed Matter - Materials Science
Abstract

The two-dimensional polymer structure and lattice dynamics of the superionic conductor Li4 C60 are investigated by neutron diffraction and spectroscopy. The peculiar bonding architecture of this compound is definitely confirmed through the precise localisation of the carbon atoms involved in the intermolecular bonds. The spectral features of this phase are revealed through ab-initio lattice dynamics calculations and inelastic neutron scattering experiments. The neutron observables are found to be in very good agreement with the simulations which predict a partial charge transfer from the Li atoms to the C60 cage. The absence of a well defined band associated to one category of the Li atoms in the experimental spectrum suggests that this species is not ordered even at the lowest temperatures. The calculations predict an unstable Li sublattice at a temperature of 200 K, that we relate to the large ionic diffusivity of this system. This specificity is discussed in terms of coupling between the low frequency optic modes of the Li ions to the soft structure of the polymer., Comment: 29 pages, 13 Figures

Published
2015

7. Phonon Control of Magnetic Relaxation in the Pyrochlore Slab Compounds SCGO and BSZCGO

Author

Zbiri, M., Mutka, H., Johnson, M. R., Payen, C., and Schober, H.

Subjects
Condensed Matter - Materials Science
Abstract

We are interested in the phonon response in the frustrated magnets SrCr$_{9x}$Ga$_{12-9x}$O$_{19}$ (SCGO) and Ba$_{2}$Sn$_{2}$ZnCr$_{7x}$Ga$_{10-7x}$O$_{22}$ (BSZCGO). The motivation of the study is the recently discovered, phonon-driven, magnetic relaxation in the SCGO compound [Mutka et al. PRL {\bf 97} 047203 (2006)] pointing out the importance of a low-energy ($\hbar\omega\sim$7 meV) phonon mode. In neutron scattering experiments on these compounds the phonon signal is partly masked by the magnetic signal from the Cr moments and we have therefore examined in detail the non-magnetic isostructural counterparts SrGa$_{12}$O$_{19}$ (SGO) and Ba$_{2}$Sn$_{2}$ZnGa$_{10}$O$_{22}$ (BSZGO). Our {\it ab-initio} lattice dynamics calculations on SGO reveal a peak in the vibrational density of states matching with the neutron observations on SGO and SCGO. A strong contribution in the vibrational density of states comes from the partial contribution of the Ga atoms on the 2b and 12k sites, involving modes at the M--point of the hexagonal system. These modes comprise dynamics of the kagom\'e planes of the pyrochlore slab magnetic sub-lattice, 12k sites, and therefore can drive magnetic relaxation via spin-phonon coupling. Both BSZCGO and BSZGO show a similar low-energy Raman peak but no corresponding peak in the neutron determined density of states of BSZGO is seen. However, a strong non-Debye enhancement of low-energy phonon response is observed. We attribute this particular feature to the Zn/Ga disorder on the 2$d$ -site, already evoked earlier to affect the magnetic properties of BSZCGO. We propose that this disorder-induced phonon response explains the absence of a characteristic energy scale and the much faster magnetic relaxation observed in BSZCGO., Comment: This version is a fully improved revision of the previous one. New results are added and additional relevant arguments are provided to support the discussion

Published
2008

8. Experimental magnetic form factors in Co3V2O8: A combined study of ab initio calculations, magnetic Compton scattering and polarized neutron diffraction

Author

Qureshi, N., Zbiri, M., Rodríguez-Carvajal, J., Stunault, A., Ressouche, E., Hansen, T. C., Fernández-Díaz, M. T., Johnson, M. R., Fuess, H., Ehrenberg, H., Sakurai, Y., Itou, M., Gillon, B., Wolf, Th., Rodríguez-Velamazan, J. A., and Sánchez-Montero, J.

Subjects
Condensed Matter - Materials Science
Abstract

We present a combination of ab initio calculations, magnetic Compton scattering and polarized neutron experiments, which elucidate the density distribution of unpaired electrons in the kagome staircase system Co3V2O8. Ab initio wave functions were used to calculate the spin densities in real and momentum space, which show good agreement with the respective experiments. It has been found that the spin polarized orbitals are equally distributed between the t2g and the eg levels for the spine (s) Co ions, while the eg orbitals of the cross-tie (c) Co ions only represent 30% of the atomic spin density. Furthermore, the results reveal that the magnetic moments of the cross-tie Co ions, which are significantly smaller than those of the spine Co ions in the zero-field ferromagnetic structure, do not saturate by applying an external magnetic field of 2 T along the easy axis a, but that the increasing bulk magnetization originates from induced magnetic moments on the O and V sites. The refined individual magnetic moments are mu(Co_c)=1.54(4) mu_B, mu(Co_s)=2.87(3) mu_B, mu(V)=0.41(4) mu_B, mu(O1)=0.05(5) mu_B, mu(O2)=0.35(5) mu_B, and; mu(O3)=0.36(5) mu_B combining to the same macroscopic magnetization value, which was previously only attributed to the Co ions.

Published
2008
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9. Ab initio lattice dynamics simulations and inelastic neutron scattering spectra for studying phonons in BaFe2As2: Effect of structural phase transition, structural relaxation and magnetic ordering

Author

Zbiri, M., Schober, H., Johnson, M. R., Rols, S., Mittal, R., Su, Y., Rotter, M., and Johrendt, D.

Subjects
Condensed Matter - Superconductivity, Condensed Matter - Materials Science
Abstract

We have performed extensive ab initio calculations to investigate phonon dynamics and their possible role in superconductivity in BaFe2As2 and related systems. The calculations are compared to inelastic neutron scattering data that offer improved resolution over published data [Mittal et al., PRB 78 104514 (2008)], in particular at low frequencies. Effects of structural phase transition and full/partial structural relaxation, with and without magnetic ordering, on the calculated vibrational density of states are reported. Phonons are best reproduced using either the relaxed magnetic structures or the experimental cell. Several phonon branches are affected by the subtle structural changes associated with the transition from the tetragonal to the orthorhombic phase. Effects of phonon induced distortions on the electronic and spin structure have been investigated. It is found that for some vibrational modes, there is a significant change of the electronic distribution and spin populations around the Fermi level. A peak at 20 meV in the experimental data falls into the pseudo-gap region of the calculation. This was also the case reported in our recent work combined with an empirical parametric calculation [Mittal et al., PRB 78 104514 (2008)]. The combined evidence for the coupling of electronic and spin degrees of freedom with phonons is relevant to the current interest in superconductivity in BaFe2As2 and related systems.

Published
2008
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10. Magnetic excitations and phonons in the spin-chain compound NaCu2O2

Author

Choi, K. -Y., Gnezdilov, V. P., Lemmens, P., Capogna, L., Johnson, M. R., Sofin, M., Maljuk, A., Jansen, M., and Keimer, B.

Subjects
Condensed Matter - Strongly Correlated Electrons
Abstract

We report an inelastic light scattering study of single-crystalline NaCu$_2$O$_2$, a spin-chain compound known to exhibit a phase with helical magnetic order at low temperatures. Phonon excitations were studied as a function of temperature and light polarization, and the phonon frequencies are compared to the results of ab-initio lattice dynamical calculations, which are also reported here. The good agreement between the observed and calculated modes allows an assignment of the phonon eigenvectors. Two distinct high-energy two-magnon features as well as a sharp low-energy one-magnon peak were also observed. These features are discussed in terms of the magnon modes expected in a helically ordered state. Their polarization dependence provides evidence of substantial exchange interactions between two closely spaced spin chains within a unit cell. At high temperatures, the spectral features attributable to magnetic excitations are replaced by a broad, quasielastic mode due to overdamped spin excitations.

Published
2005
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11. Plant tissue analysis as a tool for predicting fertiliser needs for low cyanogenic glucoside levels in cassava roots: An assessment of its possible use.

Author

Matema L E Imakumbili, Ernest Semu, Johnson M R Semoka, Adebayo Abass, and Geoffrey Mkamilo

Subjects
Medicine, Science
Abstract

The use of plant tissue analysis as a tool for attaining low cyanogenic glucoside levels in cassava roots, has hardly been investigated. Just as the quality of crops is improved through the use of plant tissue analysis, the same can probably be done to consistently attain the lowest possible cyanogenic glucoside levels in cassava roots. High levels of cyanogenic glucosides in consumed fresh cassava roots or in their products have the potential of causing cyanide intoxication, hence the need to lower them. An experiment was thus conducted to assess the occurrence of meaningful relationships between plant nutritional status and cyanogenic glucoside production in cassava roots. Total hydrogen cyanide (HCN) levels in cassava roots were used to assess cyanogenic glucoside production. Using NPK fertiliser application to induce changes in plant nutritional status, the main objective of the study was investigated using the following sub-objectives; (1) to determine the effects of increased NPK fertiliser application on cassava root HCN levels; (2) and to show the occurrence of relationships between changes in nutrient levels in plant 'indicator tissue' and HCN levels in cassava roots. The study was a field experiment laid out as a split-plot in a randomized complete block design with three replicates. It was repeated in two consecutive years, with soil nutrient deficiencies only being corrected in the second year. The varieties Salanga, Kalinda, Supa and Kiroba were used in the experiment, while the NPK fertiliser treatments included; a control with no fertiliser applied; a moderate NPK treatment (50 kg N + 10 kg P + 50 kg K /ha); and a high NPK treatment (100 kg N + 25 kg P + 100 kg K /ha). A potassium only treatment (50 kg K/ha) was also included, but mainly for comparison. The root HCN levels of Salanga, Kalinda and Kiroba were significantly influenced by NPK fertiliser application in at least one of the two field experiments, while those of Supa remained uninfluenced. Changes in plant nutritional status in response to fertiliser application were thus shown to influence cyanogenic glucoside production. The results of the multiple linear regression analysis for the first field experiment, generally showed that the root HCN levels of some cassava varieties could have been 'reduced' by decreasing concentrations of nitrogen, potassium and magnesium in plants, or by improving plant calcium concentrations along with NPK fertiliser application. However, in the second field experiment (with corrected soil nutrient deficiencies) the regression analysis generally showed that the root HCN levels of some cassava varieties could have been 'reduced' by improving either one or a combination of the nutrients phosphorous, zinc and potassium in plants along with NPK fertiliser application. Although the results obtained in the two experiments had been contradicting due to slight differences in how they were conducted, the study had nonetheless demonstrated the occurrence of meaningful relationships between plant nutritional status and cyanogenic glucoside production; confirming the possible use of plant tissue analysis in predicting fertiliser needs for the consistent attainment of low cyanogenic glucosides in cassava roots.

Published
2020
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13. Reproductive health in adults with congenital heart disease:a review on fertility, sexual health, assisted reproductive technology and contraception

Author

van der Zande, J. A., Wander, G., Ramlakhan, K. P., Roos-Hesselink, J. W., Johnson, M. R., van der Zande, J. A., Wander, G., Ramlakhan, K. P., Roos-Hesselink, J. W., and Johnson, M. R.

Abstract

Introduction: Due to the improved survival in individuals with congenital heart disease (CHD), considering their reproductive health has become more important. Currently, this topic is still underexplored. Areas covered: We discuss fertility, sexuality, assisted reproductive technology (ART), and contraception in adults with CHD. Expert opinion: Timely counseling regarding fertility, sexuality, pregnancy, and contraception is necessary, preferably during teenage years. Due to a lack of data, whether or not to perform ART in adults with CHD is almost always based on expert opinion and follow-up in an expert center is recommended. Future research is necessary to fill the gaps in knowledge on the risks and frequency of complications of ART in adults with CHD, but also to be able to differentiate the relative risks in the different types of CHD. Only then will we be able to counsel adults with CHD correctly and not unjustly deprive someone of a chance of pregnancy.

Published
2023

14. Soil nutrient adequacy for optimal cassava growth, implications on cyanogenic glucoside production: A case of konzo-affected Mtwara region, Tanzania.

Author

Matema L E Imakumbili, Ernest Semu, Johnson M R Semoka, Adebayo Abass, and Geoffrey Mkamilo

Subjects
Medicine, Science
Abstract

Soils in areas affected by konzo (a cassava cyanide intoxication paralytic disorder) are predominantly infertile and probably unable to supply cultivated cassava with the nutrients it needs to achieve optimal growth. Soil nutrient supply in these areas could also be influencing cyanogenic glucoside production in cassava, however there is hardly any knowledge on this. An assessment of soil nutrient levels on crop fields in konzo-affected areas was therefore carried out to determine their adequacy for optimal cassava growth. Konzo-affected Mtwara region of Tanzania, was used as a case study. Whether soil nutrient supply influences cyanogenic glucoside production in cassava cultivated in konzo-affected areas and how it could be doing this, was additionally investigated. To investigate this, correlations between total hydrogen cyanide (HCN) levels (a measure of cyanogenic glucoside content) in cassava roots and various soil nutrient levels on crops fields were carried out. This was followed by an investigation of relationships between cases of cassava cyanide intoxication and soil nutrient levels on crop fields from which the consumed toxic cassava roots had been harvested. Cases of cassava cyanide intoxication were used as a proxy for high cyanogenic glucoside levels in cassava roots. Logistic regression analysis was used in the latter investigation. Other important non-nutrient soil chemical characteristics, like pH and soil organic carbon, were also included in all analysis performed. The results revealed that most soil nutrients known to have reducing effects on cassava cyanogenic glucosides, like potassium (mean = 0.09 cmol/kg, SD = 0.05 cmol/kg), magnesium (mean = 0.26 cmol/kg, SD = 0.14 cmol/kg) and zinc (mean = 1.34 mg/kg, SD = 0.26 mg/kg) were deficient on several crop fields. The results also showed that cyanogenic glucosides in cassava roots could be increased with the increased supply of sulphur in soils in bitter cassava varieties (rs = 0.593, p = 0.032), and with the increased supply of P in soils in all cassava varieties (rs = 0.486, p = 0.026). The risk of cassava cyanide intoxication occurring (and thus high cyanogenic glucoside levels in cassava) was found to be likely increased by cultivating cassava on soils with high pH (X2 = 8.124, p = 0.004) and high iron (X2 = 5.740, p = 0.017). The study managed to establish that cassava grows under conditions of severe nutrient stress and that soil nutrient supply influences cyanogenic glucoside production in cassava cultivated in konzo-affected areas of Mtwara region. Despite the multiple soil nutrient deficiencies on crop fields, low soil fertility was however not the only probable cause of increased cyanogenic glucosides in cassava, as high soil nutrient levels were also found to be potential contributors.

Published
2019
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15. Farmers' perceptions on the causes of cassava root bitterness: A case of konzo-affected Mtwara region, Tanzania.

Author

Matema L E Imakumbili, Ernest Semu, Johnson M R Semoka, Adebayo Abass, and Geoffrey Mkamilo

Subjects
Medicine, Science
Abstract

In areas where konzo (a cassava cyanide related paralytic disorder) persists, the agronomic factors causing increased cyanogenic glucoside levels in cassava, during periods without water stress, are hardly known. However, through their assessment of cassava root toxicity, using its bitter taste, farmers may have noticed factors unrelated to water stress that additionally influence the cyanogenic glucoside content of cassava cultivated in these areas. Increased cassava root bitterness is often associated with an increase in cyanogenic glucoside levels, making it a good indicator of changes in root cyanogenic glucoside content. Bitter cassava varieties that are preferentially planted by people living in most konzo-affected areas, are an additional known contributor to high cyanogenic glucosides. It is water stress that further increases the inherent toxicity of the planted bitter cassava varieties. Using konzo-affected Mtwara region in Tanzania as a case study, a household survey was carried out to identify the overlooked agronomic factors that additionally influence cyanogenic glucoside levels in cassava cultivated in konzo-affected areas. A total of 120 farmers were interviewed and they mentioned a number of factors unrelated to water stress, as agronomic factors that influenced cassava root bitterness and hence cyanogenic glucoside production in cassava. The mentioned factors included; certain soil characteristics (14.2%), plant age at harvest (7.5%), poor weeding (0.8%), piecemeal harvesting (0.8%), and branch pruning (0.8%). The revealed factors constitute permanent environmental characteristics and crop management practices commonly used by farmers living in konzo-affected Mtwara region in Tanzania. The revealed factors could be contributing to increased cyanogenic glucoside levels in cassava, during periods without water stress in areas where konzo persists.

Published
2019
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16. NASA Conjunction Assessment Risk Analysis (CARA) Updated Requirements Architecture

Author

Newman, L. K, Mashiku, A. K, Hejduk, M. D, Johnson, M. R, and Rosa, J. D

Subjects
Documentation And Information Science
Abstract

The NASA Conjunction Assessment Risk Analysis (CARA) program has been performing routine on-orbit satellite conjunction risk analysis for unmanned NASA spacecraft since 2005, and has developed a robust operations procedure and set of recommended best practices for operational conjunction assessment. However, a number of recent developments in Space Situational Awareness and commercial space operations conduct, such as the immanent deployment of much more sensitive space sensing systems and the launching of much larger satellite constellations, have begun to challenge these standard collision risk parameters and calculations. In response CARA has pursued a multi-year evaluation initiative to re-examine risk assessment algorithms and techniques, to develop needed improvements, and to assemble analysis-based operational requirements. This paper gives an overview of the principal parts of the Conjunction Assessment (CA) risk assessment process used at CARA, outlines the technical challenges that each part presents, surveys the possible solutions, and then indicates which particular solution is being recommended for NASA.

Published
2019

21. Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy

Author

Silvennoinen K., de Lange N., Zagaglia S., Balestrini S., Androsova G., Wassenaar M., Auce P., Avbersek A., Becker F., Berghuis B., Campbell E., Coppola A., Francis B., Wolking S., Cavalleri G. L., Craig J., Delanty N., Johnson M. R., Koeleman B. P. C., Kunz W. S., Lerche H., Marson A. G., O'Brien T. J., Sander J. W., Sills G. J., Striano P., Zara F., van der Palen J., Krause R., Depondt C., Sisodiya S. M., Brodie M. J., Chinthapalli K., de Haan G. -J., Doherty C. P., Heavin S., McCormack M., Petrovski S., Sargsyan N., Slattery L., Willis J., National Institute for Health Research, Silvennoinen, K., de Lange, N., Zagaglia, S., Balestrini, S., Androsova, G., Wassenaar, M., Auce, P., Avbersek, A., Becker, F., Berghuis, B., Campbell, E., Coppola, A., Francis, B., Wolking, S., Cavalleri, G. L., Craig, J., Delanty, N., Johnson, M. R., Koeleman, B. P. C., Kunz, W. S., Lerche, H., Marson, A. G., O'Brien, T. J., Sander, J. W., Sills, G. J., Striano, P., Zara, F., van der Palen, J., Krause, R., Depondt, C., Sisodiya, S. M., Brodie, M. J., Chinthapalli, K., de Haan, G. -J., Doherty, C. P., Heavin, S., Mccormack, M., Petrovski, S., Sargsyan, N., Slattery, L., and Willis, J.

Subjects
Topiramate, Pediatrics, medicine.medical_specialty, Neurology [D14] [Human health sciences], seizure, adverse drug reaction, Clinical Neurology, Lamotrigine, lcsh:RC346-429, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Journal Article, medicine, 030212 general & internal medicine, EpiPGX Consortium, tolerability, lcsh:Neurology. Diseases of the nervous system, seizures, adverse drug reactions, Neurologie [D14] [Sciences de la santé humaine], business.industry, Weight change, Généralités, Carbamazepine, medicine.disease, 3. Good health, valproate, Neurology, Tolerability, Full‐length Original Research, Neurology (clinical), Levetiracetam, Juvenile myoclonic epilepsy, business, 030217 neurology & neurosurgery, medicine.drug
Abstract

Objective: To study the effectiveness and tolerability of antiepileptic drugs (AEDs) commonly used in juvenile myoclonic epilepsy (JME). Methods: People with JME were identified from a large database of individuals with epilepsy, which includes detailed retrospective information on AED use. We assessed secular changes in AED use and calculated rates of response (12-month seizure freedom) and adverse drug reactions (ADRs) for the five most common AEDs. Retention was modeled with a Cox proportional hazards model. We compared valproate use between males and females. Results: We included 305 people with 688 AED trials of valproate, lamotrigine, levetiracetam, carbamazepine, and topiramate. Valproate and carbamazepine were most often prescribed as the first AED. The response rate to valproate was highest among the five AEDs (42.7%), and significantly higher than response rates for lamotrigine, carbamazepine, and topiramate; the difference to the response rate to levetiracetam (37.1%) was not significant. The rates of ADRs were highest for topiramate (45.5%) and valproate (37.5%). Commonest ADRs included weight change, lethargy, and tremor. In the Cox proportional hazards model, later start year (1.10 [1.08-1.13], P, SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2019

22. Association of ultra-rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study

Author

Koko, M., Motelow, J. E., Stanley, K. E., Bobbili, D. R., Dhindsa, R. S., May, P., Alldredge, B. K., Allen, A. S., Altmuller, J., Amrom, D., Andermann, E., Auce, P., Avbersek, A., Baulac, S., Bautista, J. F., Becker, F., Bellows, S. T., Berghuis, B., Berkovic, S. F., Bluvstein, J., Boro, A., Bridgers, J., Burgess, R., Caglayan, H., Cascino, G. D., Cavalleri, G. L., Chung, S. -K., Cieuta-Walti, C., Cloutier, V., Consalvo, D., Cossette, P., Crumrine, P., Delanty, N., Depondt, C., Desbiens, R., Devinsky, O., Dlugos, D., Epstein, M. P., Everett, K., Fiol, M., Fountain, N. B., Francis, B., French, J., Freyer, C., Friedman, D., Gambardella, A., Geller, E. B., Girard, S., Glauser, T., Glynn, S., Goldstein, D. B., Gravel, M., Haas, K., Haut, S. R., Heinzen, E. L., Helbig, I., Hildebrand, M. S., Johnson, M. R., Jorgensen, A., Joshi, S., Kanner, A., Kirsch, H. E., Klein, K. M., Knowlton, R. C., Koeleman, B. P. C., Kossoff, E. H., Krause, R., Krenn, M., Kunz, W. S., Kuzniecky, R., Langley, S. R., Leguern, E., Lehesjoki, A. -E., Lerche, H., Leu, C., Lortie, A., Lowenstein, D. H., Marson, A. G., Mebane, C., Mefford, H. C., Meloche, C., Moreau, C., Motika, P. V., Muhle, H., Moller, R. S., Nabbout, R., Nguyen, D. K., Nikanorova, M., Novotny, E. J., Nurnberg, P., Ottman, R., O'Brien, T. J., Paolicchi, J. M., Parent, J. M., Park, K., Peter, S., Petrou, S., Petrovski, S., Pickrell, W. O., Poduri, A., Radtke, R. A., Rees, M. I., Regan, B. M., Ren, Z., Sadleir, L. G., Sander, J. W., Sander, T., Scheffer, I. E., Schubert, J., Shellhaas, R. A., Sherr, E. H., Shih, J. J., Shinnar, S., Sills, G. J., Singh, R. K., Siren, A., Sirven, J., Sisodiya, S. M., Smith, M. C., Sonsma, A. C. M., Striano, P., Sullivan, J., Thio, L. L., Thomas, R. H., Venkat, A., Vining, E. P. G., Von Allmen, G. K., Wang, Q., Weber, Y. G., Weckhuysen, S., Weisenberg, J. L., Widdess-Walsh, P., Winawer, M. R., Wolking, S., Zara, F., Zimprich, F., Canadian Epilepsy Network, Epi4K Consortium, Epilepsy Phenome/Genome Project, EpiPGX Consortium, EuroEPINOMICS-CoGIE Consortium, Department of Medical and Clinical Genetics, Medicum, Fonds National de la Recherche - FnR [sponsor], Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Peter, Sarah, Petrou, Steven, Petrovski, Slavé, Pickrell, William O., Poduri, Annapurna, Radtke, Rodney A., Rees, Mark I., Regan, Brigid M., Ren, Zhong, Sadleir, Lynette G., Alldredge, Brian K., Sander, Josemir W., Sander, Thomas, Scheffer, Ingrid E., Schubert, Julian, Shellhaas, Renée A., Sherr, Elliott H., Shih, Jerry J., Shinnar, Shlomo, Sills, Graeme J., Singh, Rani K., Allen, Andrew S., Siren, Auli, Sirven, Joseph, Sisodiya, Sanjay M., Smith, Michael C., Sonsma, Anja C. M., Striano, Pasquale, Sullivan, Joseph, Thio, Liu Lin, Thomas, Rhys H., Venkat, Anu, Altmüller, Janine, Vining, Eileen P. G., Von Allmen, Gretchen K., Wang, Quanli, Weber, Yvonne G., Weckhuysen, Sarah, Weisenberg, Judith L., Widdess-Walsh, Peter, Winawer, Melodie R., Wolking, Stefan, Zara, Federico, Amrom, Dina, Zimprich, Fritz, Andermann, Eva, Auce, Pauls, Avbersek, Andreja, Baulac, Stéphanie, Bautista, Jocelyn F., Becker, Felicitas, Bellows, Susannah T., Berghuis, Bianca, Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Bridgers, Joshua, Burgess, Rosemary, Caglayan, Hande, Cascino, Gregory D., Cavalleri, Gianpiero L., Chung, Seo-Kyung, Cieuta-Walti, Cécile, Cloutier, Véronique, Consalvo, Damian, Cossette, Patrick, Crumrine, Patricia, Delanty, Norman, Depondt, Chantal, Desbiens, Richard, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Everett, Kate, Fiol, Miguel, Fountain, Nathan B., Francis, Ben, French, Jacqueline, Freyer, Catharine, Friedman, Daniel, Gambardella, Antonio, Geller, Eric B., Girard, Simon, Glauser, Tracy, Glynn, Simon, Goldstein, David B., Gravel, Micheline, Haas, Kevin, Haut, Sheryl R., Heinzen, Erin L., Helbig, Ingo, Hildebrand, Michael S., Johnson, Michael R., Jorgensen, Andrea, Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Klein, Karl M., Knowlton, Robert C., Koeleman, Bobby P. C., Kossoff, Eric H., Krause, Roland, Krenn, Martin, Kunz, Wolfram S., Kuzniecky, Ruben, Langley, Sarah R., LeGuern, Eric, Lehesjoki, Anna-Elina, Lerche, Holger, Leu, Costin, Lortie, Anne, Lowenstein, Daniel H., Marson, Anthony G., Mebane, Caroline, Mefford, Heather C., Meloche, Caroline, Moreau, Claudia, Motika, Paul V., Muhle, Hiltrud, Møller, Rikke S., Nabbout, Rima, Nguyen, Dang K., Nikanorova, Marina, Novotny, Edward J., Nürnberg, Peter, Ottman, Ruth, O'Brien, Terence J., Paolicchi, Juliann M., Parent, Jack M., and Park, Kristen

Subjects
GABA receptors, Neurology [D14] [Human health sciences], Clinical Sciences, GABA(A) receptors, GABRG2, familial epilepsy, Article, Clinical Research, Receptors, Exome Sequencing, Genetics, 2.1 Biological and endogenous factors, Humans, GGE, Genetic Predisposition to Disease, sporadic epilepsy, EpiPGX Consortium, Aetiology, gamma-Aminobutyric Acid, GABAA receptors, Epi4K Consortium, Epilepsy, Neurology & Neurosurgery, Neurologie [D14] [Sciences de la santé humaine], Generalized, GABA-A, Prevention, Human Genome, Neurosciences, 1184 Genetics, developmental biology, physiology, 3112 Neurosciences, Receptors, GABA-A, EuroEPINOMICS-CoGIE Consortium, Neurology, Case-Control Studies, Epilepsy, Generalized, Canadian Epilepsy Network, Neurology (clinical), Genetics & genetic processes [F10] [Life sciences], 3111 Biomedicine, Human medicine, Génétique & processus génétiques [F10] [Sciences du vivant], Epilepsy Phenome/Genome Project
Abstract

ObjectiveWe aimed to identify genes associated with genetic generalized epilepsy (GGE) by combining large cohorts enriched with individuals with a positive family history. Secondarily, we set out to compare the association of genes independently with familial and sporadic GGE.MethodsWe performed a case-control whole exome sequencing study in unrelated individuals of European descent diagnosed with GGE (previously recruited and sequenced through multiple international collaborations) and ancestry-matched controls. The association of ultra-rare variants (URVs; in 18834 protein-coding genes) with epilepsy was examined in 1928 individuals with GGE (vs. 8578 controls), then separately in 945 individuals with familial GGE (vs. 8626 controls), and finally in 1005 individuals with sporadic GGE (vs. 8621 controls). We additionally examined the association of URVs with familial and sporadic GGE in two gene sets important for inhibitory signaling (19genes encoding γ-aminobutyric acid type A [GABAA ] receptors, 113genes representing the GABAergic pathway).ResultsGABRG2 was associated with GGE (p=1.8×10-5 ), approaching study-wide significance in familial GGE (p=3.0×10-6 ), whereas no gene approached a significant association with sporadic GGE. Deleterious URVs in the most intolerant subgenic regions in genes encoding GABAA receptors were associated with familial GGE (odds ratio [OR]=3.9, 95% confidence interval [CI]=1.9-7.8, false discovery rate [FDR]-adjusted p=.0024), whereas their association with sporadic GGE had marginally lower odds (OR=3.1, 95% CI=1.3-6.7, FDR-adjusted p=.022). URVs in GABAergic pathway genes were associated with familial GGE (OR=1.8, 95% CI=1.3-2.5, FDR-adjusted p=.0024) but not with sporadic GGE (OR=1.3, 95% CI=.9-1.9, FDR-adjusted p=.19).SignificanceURVs in GABRG2 are likely an important risk factor for familial GGE. The association of gene sets of GABAergic signaling with familial GGE is more prominent than with sporadic GGE.

Published
2022

33. Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy

Author

Wolking, S., Moreau, C., Mccormack, M., Krause, R., Krenn, M., Berkovic, S., Cavalleri, G. L., Delanty, N., Depondt, C., Johnson, M. R., Koeleman, B. P. C., Kunz, W. S., Lerche, H., Marson, A. G., O'Brien, T. J., Petrovski, S., Sander, J. W., Sills, G. J., Striano, P., Zara, F., Zimprich, F., Sisodiya, S. M., Girard, S. L., Cossette, P., Avbersek, A., Leu, C., Heggeli, K., Demurtas, R., Willis, J., Speed, D., Sargsyan, N., Chinthapalli, K., Borghei, M., Coppola, A., Gambardella, A., Becker, F., Rau, S., Hengsbach, C., Weber, Y. G., Berghuis, B., Campbell, E., Gudmundsson, L. J., Ingason, A., Stefansson, K., Schneider, R., Balling, R., Auce, P., Francis, B., Jorgensen, A., Morris, A., Langley, S., Srivastava, P., Brodie, M., Todaro, M., Hutton, J., Muhle, H., Klein, K. M., Moller, R. S., Nikanorova, M., Weckhuysen, S., Rener-Primec, Z., Craig, J., and Stefansson, H.

Subjects
0301 basic medicine, Male, Candidate gene, Drug Resistant Epilepsy, Neurology [D14] [Human health sciences], Neurosciences. Biological psychiatry. Neuropsychiatry, Drug resistance, Bioinformatics, Polymorphism, Single Nucleotide, Whole Exome Sequencing, Cohort Studies, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Exome Sequencing, medicine, Humans, Polymorphism, RC346-429, Gene, Exome sequencing, Research Articles, Genetic Association Studies, Neurologie [D14] [Sciences de la santé humaine], business.industry, General Neuroscience, Genetic variants, Genetic Variation, Single Nucleotide, medicine.disease, DEPDC5, Female, 030104 developmental biology, Cohort, Neurology (clinical), Neurology. Diseases of the nervous system, business, 030217 neurology & neurosurgery, RC321-571, Research Article
Abstract

Annals of Clinical and Translational Neurology 8(7), 1376-1387 (2021). doi:10.1002/acn3.51374, Published by Wiley, Chichester [u.a.]

Published
2021

34. Signatures of TSPAN8 variants associated with human metabolic regulation and diseases

Author

De, T. (Tisham), Goncalves, A. (Angela), Speed, D. (Doug), Froguel, P. (Philippe), NFBC consortium, . (), Gaffney, D. J. (Daniel J.), Johnson, M. R. (Michael R.), Jarvelin, M.-R. (Marjo-Riitta), and Coin, L. J. (Lachlan J. M.)

Subjects
endocrine system
Abstract

Summary Here, with the example of common copy number variation (CNV) in the TSPAN8 gene, we present an important piece of work in the field of CNV detection, that is, CNV association with complex human traits such as ¹H NMR metabolomic phenotypes and an example of functional characterization of CNVs among human induced pluripotent stem cells (HipSci). We report TSPAN8 exon 11 (ENSE00003720745) as a pleiotropic locus associated with metabolomic regulation and show that its biology is associated with several metabolic diseases such as type 2 diabetes (T2D) and cancer. Our results further demonstrate the power of multivariate association models over univariate methods and define metabolomic signatures for variants in TSPAN8.

Published
2021

48. Impact of structural complexity and disorder on lattice dynamics and thermal conductivity in the o- Al13Co4 phase

Author

Lory, P.-F., primary, Giordano, V. M., additional, Gille, P., additional, Euchner, H., additional, Mihalkovič, M., additional, Pellegrini, E., additional, Gonzalez, M., additional, Regnault, L.-P., additional, Bastie, P., additional, Schober, H., additional, Pailhes, S., additional, Johnson, M. R., additional, Grin, Yu., additional, and de Boissieu, M., additional

Published
2020
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50. Influence of socioeconomic factors on pregnancy outcome in women with structural heart disease

Author

Van Hagen I. M., Baart S., Fong Soe Khioe R., Sliwa-Hahnle K., Taha N., Lelonek M., Tavazzi L., Maggioni A. P., Johnson M. R., Maniadakis N., Fordham R., Hall R., Roos-Hesselink J. W., Ferrari R., Marelli A., Webb G., Kaemmerer H., Popelova J., Sliwa K., Parsonage W. A., Stein J., Elkayam U., Thilen U., Budts W., Ruys T., Vardas P., Komajda M., Pinto F., Alonso A., Wood D., Ferreira T., Gracia G., Laroche C., Missiamenou V., Taylor C., Konte M., Andarala M., Fiorucci E., Lefrancq E. F., Glemot M., McNeill P-A., Pommier C., Lafay M., Aquieri A., Vega H. R., Blanco M. V., Lust K., Fagermo N., Gabriel H., Donhauser E., Gasimov Z., Jahangirov T., Hasanova I., De Backer J., Demulier L., de Hosson M., Beckx M., Moissens M., Kovacevic-Preradovic T., Kozic M., Lovric M., Freire C. V., Chilingirova N., Kratunkov P., Montesclaros A. R., Beaubien E., Gordon E., Walter L., Lindsay C., Wahab N., Vavera Z., El Nagar A., Ebaid H. H., El Sayed Makled W. A., Dardier A., Shabaan M., Elrakshy Y., Eltamawey K., Abd-El Aziz M. G., Saad A., Aboleineen W., Ashour Z., Sorour K., Mahdy M. A. M., Iserin L., Ladouceur M., Cohen S., Iung B., Maisuradze D., Mebus S., Gembruch U., Hammerstingl C., Merz W. M., Wald C., Baumgartner H., Orwat S., Schmidt R., Motz R., Olsson A., Berger F., Nagdyman N., Frogoudaki A., Anastasiou-Nana M., Temesvari A., Kohalmi D., Balint H., Merkely B., Liptai C., Bowen M., Cullen M., Thornton P., Husarova V., Blatt A., Elbaz-Greener G., Moravsky G., Vered Z., Fuhrmann A. V., Shotan A., Goland S., Festa P., Ali L. A., Sinagra G., Puggia I., Mottolese B. D., Carmina M. G., Romeo C., Crepaz R., Fesslova V., Azzarelli A., Baldi D., Bovenzi F., Donvito V., Vasario E., Todros T., Niwa K., Mussagaliyeva A., Mekebekova D., Sharipova S., Zaliunas R., Jonkaitiene R., Petrauskaite J., Gumbiene L., Jovanova S., Cassar A., Caruana M., Karamermer Y., Cornette J. M. J., van Dijk A., Bellersen L., Duijnhouwer T., De Groot C., Pieper E. P. G., van Oppen C., Polak P., Wajon E., Wagenaar L., Estensen M., Lesniak-Sobelga A., Podolec P., Wisniowska-Smialek S., Trybuch A., Hoffman P., Cichocka-Radwan A., Sobczak S., Faflik U., Tomaszuk-Kazberuk A., Przepiesc J., Gil M., Plaskota K., Trojnarska O., Guerra N., de Sousa L., Petrescu V., Ginghina C., Jurcut R., Coman I. M., Gaisin I. R., Shilina L. V., Sharashkina N., Tkacheva O., Ivanov D., Irtyuga O., Jovovic L., Prokselj K., Kozelj M., Elliott C., Galian-Gay L., Pijuan-Domenech A., Subirana-Domenech M. T., Tornos P., Murga N., Oliver J. M., Escribano-Subias P., Ruiz-Cano M. J., Delgado-Jimenez J., Furenas E., Dellborg M., Schwerzmann M., Bouchardy J., Rutz T., Tobler D., Sarac L., Esen O. B., Enar S. C., Al Mulla A., Bazargani N., Al Hatou E., Farook F., Almahmeed W., Salih B., Clifford P., Bowers N., Veldtman G., Kerr J., Tellett L., Hudsmith L., Thompson P., Thorne S., Bowater S., Nihoyannopoulos P., Curry R., Freeman L., Schroeder F., Wendler R., Hammond S., Talluto C., Murphy D., Perlroth M. G., Chintala K., Gupta P., Pare E., Khatri N., Scott N., De Faria-Yeh D., Bhatt A. B., Tsiaras S., Gurvitz M., Otto C., Botti J., Ting J., Davidson W. R., Cardiology, Van Hagen, I. M., Baart, S., Fong Soe Khioe, R., Sliwa-Hahnle, K., Taha, N., Lelonek, M., Tavazzi, L., Maggioni, A. P., Johnson, M. R., Maniadakis, N., Fordham, R., Hall, R., Roos-Hesselink, J. W., Ferrari, R., Marelli, A., Webb, G., Kaemmerer, H., Popelova, J., Sliwa, K., Parsonage, W. A., Stein, J., Elkayam, U., Thilen, U., Budts, W., Ruys, T., Vardas, P., Komajda, M., Pinto, F., Alonso, A., Wood, D., Ferreira, T., Gracia, G., Laroche, C., Missiamenou, V., Taylor, C., Konte, M., Andarala, M., Fiorucci, E., Lefrancq, E. F., Glemot, M., Mcneill, P-A., Pommier, C., Lafay, M., Aquieri, A., Vega, H. R., Blanco, M. V., Lust, K., Fagermo, N., Gabriel, H., Donhauser, E., Gasimov, Z., Jahangirov, T., Hasanova, I., De Backer, J., Demulier, L., de Hosson, M., Beckx, M., Moissens, M., Kovacevic-Preradovic, T., Kozic, M., Lovric, M., Freire, C. V., Chilingirova, N., Kratunkov, P., Montesclaros, A. R., Beaubien, E., Gordon, E., Walter, L., Lindsay, C., Wahab, N., Vavera, Z., El Nagar, A., Ebaid, H. H., El Sayed Makled, W. A., Dardier, A., Shabaan, M., Elrakshy, Y., Eltamawey, K., Abd-El Aziz, M. G., Saad, A., Aboleineen, W., Ashour, Z., Sorour, K., Mahdy, M. A. M., Iserin, L., Ladouceur, M., Cohen, S., Iung, B., Maisuradze, D., Mebus, S., Gembruch, U., Hammerstingl, C., Merz, W. M., Wald, C., Baumgartner, H., Orwat, S., Schmidt, R., Motz, R., Olsson, A., Berger, F., Nagdyman, N., Frogoudaki, A., Anastasiou-Nana, M., Temesvari, A., Kohalmi, D., Balint, H., Merkely, B., Liptai, C., Bowen, M., Cullen, M., Thornton, P., Husarova, V., Blatt, A., Elbaz-Greener, G., Moravsky, G., Vered, Z., Fuhrmann, A. V., Shotan, A., Goland, S., Festa, P., Ali, L. A., Sinagra, G., Puggia, I., Mottolese, B. D., Carmina, M. G., Romeo, C., Crepaz, R., Fesslova, V., Azzarelli, A., Baldi, D., Bovenzi, F., Donvito, V., Vasario, E., Todros, T., Niwa, K., Mussagaliyeva, A., Mekebekova, D., Sharipova, S., Zaliunas, R., Jonkaitiene, R., Petrauskaite, J., Gumbiene, L., Jovanova, S., Cassar, A., Caruana, M., Karamermer, Y., Cornette, J. M. J., van Dijk, A., Bellersen, L., Duijnhouwer, T., De Groot, C., Pieper, E. P. G., van Oppen, C., Polak, P., Wajon, E., Wagenaar, L., Estensen, M., Lesniak-Sobelga, A., Podolec, P., Wisniowska-Smialek, S., Trybuch, A., Hoffman, P., Cichocka-Radwan, A., Sobczak, S., Faflik, U., Tomaszuk-Kazberuk, A., Przepiesc, J., Gil, M., Plaskota, K., Trojnarska, O., Guerra, N., de Sousa, L., Petrescu, V., Ginghina, C., Jurcut, R., Coman, I. M., Gaisin, I. R., Shilina, L. V., Sharashkina, N., Tkacheva, O., Ivanov, D., Irtyuga, O., Jovovic, L., Prokselj, K., Kozelj, M., Elliott, C., Galian-Gay, L., Pijuan-Domenech, A., Subirana-Domenech, M. T., Tornos, P., Murga, N., Oliver, J. M., Escribano-Subias, P., Ruiz-Cano, M. J., Delgado-Jimenez, J., Furenas, E., Dellborg, M., Schwerzmann, M., Bouchardy, J., Rutz, T., Tobler, D., Sarac, L., Esen, O. B., Enar, S. C., Al Mulla, A., Bazargani, N., Al Hatou, E., Farook, F., Almahmeed, W., Salih, B., Clifford, P., Bowers, N., Veldtman, G., Kerr, J., Tellett, L., Hudsmith, L., Thompson, P., Thorne, S., Bowater, S., Nihoyannopoulos, P., Curry, R., Freeman, L., Schroeder, F., Wendler, R., Hammond, S., Talluto, C., Murphy, D., Perlroth, M. G., Chintala, K., Gupta, P., Pare, E., Khatri, N., Scott, N., De Faria-Yeh, D., Bhatt, A. B., Tsiaras, S., Gurvitz, M., Otto, C., Botti, J., Ting, J., and Davidson, W. R.

Subjects
Registrie, Pediatrics, Cardiac & Cardiovascular Systems, Heart disease, global health, heart failure, Disease, 030204 cardiovascular system & hematology, Cardiovascular, 0302 clinical medicine, Pregnancy, Residence Characteristics, Prospective Studies, Registries, PREDICTORS, 1102 Cardiorespiratory Medicine and Haematology, CARDIOLOGY, 030219 obstetrics & reproductive medicine, valvular heart disease, Pregnancy Outcome, SOUTH-AFRICA, congenital heart disease, pregnancy, Adult, Analysis of Variance, Female, Global Health, Heart Diseases, Humans, Maternal Age, Pregnancy Complications, Cardiovascular, Socioeconomic Factors, EUROPEAN-SOCIETY, Heart Disease, CARDIOVASCULAR-DISEASE, RISK-ASSESSMENT, Cardiology and Cardiovascular Medicine, Life Sciences & Biomedicine, Human, Acute coronary syndrome, medicine.medical_specialty, ROPAC investigators, Birth rate, 03 medical and health sciences, medicine, CARDIAC-DISEASE, MATERNAL OUTCOMES, Socioeconomic status, Science & Technology, business.industry, INCOME INEQUALITY, medicine.disease, Pregnancy Complications, Prospective Studie, Cardiovascular System & Hematology, Residence Characteristic, Heart failure, REGISTRY, Cardiovascular System & Cardiology, business
Abstract

ObjectiveCardiac disease is the leading cause of indirect maternal mortality. The aim of this study was to analyse to what extent socioeconomic factors influence the outcome of pregnancy in women with heart disease.MethodsThe Registry of Pregnancy and Cardiac disease is a global prospective registry. For this analysis, countries that enrolled ≥10 patients were included. A combined cardiac endpoint included maternal cardiac death, arrhythmia requiring treatment, heart failure, thromboembolic event, aortic dissection, endocarditis, acute coronary syndrome, hospitalisation for cardiac reason or intervention. Associations between patient characteristics, country characteristics (income inequality expressed as Gini coefficient, health expenditure, schooling, gross domestic product, birth rate and hospital beds) and cardiac endpoints were checked in a three-level model (patient–centre–country).ResultsA total of 30 countries enrolled 2924 patients from 89 centres. At least one endpoint occurred in 645 women (22.1%). Maternal age, New York Heart Association classification and modified WHO risk classification were associated with the combined endpoint and explained 37% of variance in outcome. Gini coefficient and country-specific birth rate explained an additional 4%. There were large differences between the individual countries, but the need for multilevel modelling to account for these differences disappeared after adjustment for patient characteristics, Gini and country-specific birth rate.ConclusionWhile there are definite interregional differences in pregnancy outcome in women with cardiac disease, these differences seem to be mainly driven by individual patient characteristics. Adjustment for country characteristics refined the results to a limited extent, but maternal condition seems to be the main determinant of outcome.

Published
2018

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