38 research outputs found

    Interaction of ultrarelativistic electron and proton bunches with dense plasmas

    Full text link
    Here we discuss the possibility of employment of ultrarelativistic electron and proton bunches for generation of high plasma wakefields in dense plasmas due to the Cherenkov resonance plasma-bunch interaction. We estimate the maximum amplitude of such a wake and minimum system length at which the maximum amplitude can be generated at the given bunch parameters.Comment: 8 page

    Individual, ecological, and anthropogenic influences on activity budgets of long-finned pilot whales

    Get PDF
    The authors would like to thank sponsors, NL Ministry of Defence, NOR Ministry of Defence, U.S. Office of Naval Research (N00014-08-1-0984, N00014-10-1-0355, N00014-14-1-0390), FR Ministry of Defence (DGA; public market no. 15860052), World Wildlife Fund Norway (9E0682), and French Total Foundation and Bleustein-Blanchet Foundation. The statistical development work was supported by a separate grant from the U.S. Office of Naval Research (N00014-12-1-0204), under the project entitled Multi-study OCean acoustics Human effects Analysis (MOCHA).Time allocation to different activities and habitats enables individuals to modulate their perceived risks and access to resources, and can reveal important trade-offs between fitness-enhancing activities (e.g., feeding vs. social behavior). Species with long reproductive cycles and high parental investment, such as marine mammals, rely on such behavioral plasticity to cope with rapid environmental change, including anthropogenic stressors. We quantified activity budgets of free-ranging long-finned pilot whales in order to assess individual time trade-offs between foraging and other behaviors in different individual and ecological contexts, and during experimental sound exposures. The experiments included 1-2 and 6-7 kHz naval sonar exposures (a potential anthropogenic stressor), playback of killer whale (a potential predator/competitor) vocalizations, and negative controls. We combined multiple time series data from digital acoustic recording tags (DTAG) as well as group-level social behavior data from visual observations of tagged whales at the surface. The data were classified into near-surface behaviors and dive types (using a hidden Markov model for dive transitions) and aggregated into time budgets. On average, individuals (N=19) spent most of their time (69%) resting and transiting near surface, 21% in shallow dives (depth <40m), and only 10% of their time in deep foraging dives, of which 65% reached a depth 10m from the sea bottom. Individuals in the largest of three body size classes or accompanied by calves tended to spend more time foraging than others. Simultaneous tagging of pairs of individuals showed that up to 50% of the activity budget was synchronized between conspecifics with decreased synchrony during foraging periods. Individuals spent less time foraging when forming larger non-vocal aggregations of individuals in late afternoons, and more time foraging when in the mid-range of water depths (300-400m) available in the study area (50-700m). Individuals reduced foraging time by 83% (29-96%) during their first exposure to sonar, but not during killer whale sound playbacks. A relative increase in foraging during repeat sonar exposures indicated habituation or change in response tactic. We discuss the possible adaptive value of these trade-offs in time allocation to reduce individual conflict while maintaining benefits of group living.Publisher PDFPeer reviewe

    Influence of balneotherapy factors on microbial status of oral cavity in patients with remowable dentures

    Get PDF
    The article devoted to the study of oral cavity microbial flora changing after low balneotherapy with “Fateevskaya” mineral water in patients with removable dentures. Removable dentures are additional basis for microbial proliferation, which can initiate a number of local and general diseases. The importance of preventive control in after-adaptation period in orthopedic rehabilitation by removable dentures. Object: Assess the impact of balneotherapy factors on microbial status in patients with removable dentures. Methodology. 158 elderly and senile age patients witch use removable dentures was examined. All examined patients was divide into two groups. The group received the treatment with the “Fateevskaya” mineral water (78 patients), and the clinical control group (80 patients). Microbiological structure and biological attributes of detected microbes were measure before and after low balneotherapy. Microbiocenosis of oral cavity was study under influence of proposed procedure in both groups. Results: Effect was confirm by acquired digital data. Findings. The results of the study indicate a positive qualitative change of oral cavity microflora under the influence of low balneotherapy. The results allow us to recommend use the “Fateevskaya” mineral water to normalize microbiocenosis in dental practice.Статья посвящается изучению изменения качественного состава микробной флоры полости рта после проведения процедур малой бальнеотерапии с минеральной водой «Фатеевская» у пациентов со съемными протезами, которые являются дополнительным базисом для развития микроорганизмов и могут спровоцировать возникновение ряда местных и общих заболеваний. Отмечена важность проведения профилактических мероприятий в период после адаптации при ортопедической реабилитации съёмными протезами. Цель: оценить влияние бальнеологических факторов на микробный статус полости рта пациентов, использующих съемные протезы. Методология. Обследовано 158 пациентов пожилого и старческого возраста, пользующихся съемными протезами. Из числа обследуемых выделена опытная группа (78 человек), которым проведен двухнедельный курс малой бальнеотерапии минеральной водой «Фатеевская» и группа сравнения (80 человек). До и после проведения курса малой бальнеотерапии оценивали микробиологический состав и биологические свойства выявленных микробов ротовой полости, изучен микробиоценоз ротовой полости под воздействием предложенной процедуры в группах. Результаты. Эффект нашел свое отражение в полученных цифровых данных. Выводы. Результаты проведенного исследования свидетельствуют о положительном качественном изменении микрофлоры полости рта при воздействии процедур малой бальнеотерапии и позволяют рекомендовать минеральную воду «Фатеевская» для нормализации микробиоценоза в стоматологии

    Static and dynamic structure factors with account of the ion structure for high-temperature alkali and alkaline earth plasmas

    Full text link
    The electron-electron, electron-ion, ion-ion and charge-charge static structure factors are calculated for alkali (at T = 30 000 K, 60 000 K, n (e) = 0.7 x 10(21) A center dot 1.1 x 10(22) cm(-3)) and Be2+ (at T = 20 eV, n (e) = 2.5 x 10(23) cm(-3)) plasmas using the method described by Gregori et al. The dynamic structure factors for alkali plasmas are calculated at T = 30 000 K, n (e) = 1.74 x 10(20), 1.11 x 10(22) cm(-3) using the method of moments developed by Adamjan et al. In both methods the screened Hellmann-Gurskii-Krasko potential, obtained on the basis of Bogolyubov's method, has been used taking into account not only the quantum-mechanical effects but also the repulsion due to the Pauli exclusion principle. The repulsive part of the Hellmann-Gurskii-Krasko (HGK) potential reflects important features of the ion structure. Our results on the static structure factors for Be2+ plasma deviate from the data obtained by Gregori et al., while our dynamic structure factors are in a reasonable agreement with those of Adamyan et al.: at higher values of k and with increasing k the curves damp down while at lower values of k, and especially at higher electron coupling, we observe sharp peaks also reported in the mentioned work. For lower electron coupling the dynamic structure factors of Li+, Na+, K+, Rb+ and Cs+ do not differ while at higher electron coupling these curves split. As the number of shell electrons increases from Li+ to Cs+ the curves shift in the direction of low absolute value of omega and their heights diminish. We conclude that the short range forces, which we take into account by means of the HGK model potential, which deviates from the Coulomb and Deutsch ones, influence the static and dynamic structure factors significantly.The work has been realised at the Humboldt University at Berlin (Germany). One of the authors (S. P. Sadykova) would like to express sincere thanks to the Erasmus Mundus Program of the EU for the financial support and especially to Mr. M. Parske for his aid, to the Institute of Physics, Humboldt University at Berlin, for the support which made her participation at some scientific Conferences possible; I. M. T. acknowledges the financial support of the Spanish Ministerio de Educacion y Ciencia Project No. ENE2007-67406-C02-02/FTN and valuable discussions with Dr. D. Gericke.Sadykova, SP.; Ebeling, W.; Tkachenko Gorski, IM. (2011). Static and dynamic structure factors with account of the ion structure for high-temperature alkali and alkaline earth plasmas. European Physical Journal D. 61(1):117-130. https://doi.org/10.1140/epjd/e2010-10118-yS117130611G. Gregori, O.L. Landen, S.H. Glenzer, Phys. Rev. E 74, 026402 (2006)G. Gregori, A. Ravasio, A. Höll, S.H. Glenzer, S.J. Rose, High Energy Density Physics 3, 99 (2007)V.M. Adamyan, I.M. Tkachenko, Teplofiz. Vys. Temp. 21, 417 (1983) [High Temp. (USA) 21, 307 (1983)]V.M. Adamyan, T. Meyer, I.M. Tkachenko, Fiz. Plazmy 11, 826 (1985) [Sov. J. Plasma Phys. 11, 481 (1985)]S.V. Adamjan, I.M. Tkachenko, J.L. Muñoz-Cobo, G. Verdú Martín, Phys. Rev. E 48, 2067 (1993)V.M. Adamyan, I.M. Tkachenko, Contrib. Plasma Phys. 43, 252 (2003)S. Sadykova, W. Ebeling, I. Valuev, I. Sokolov, Contrib. Plasma Phys. 49, 76 (2009)M.J. Rosseinsky, K. Prassides, Nature 464, 39 (2010)Physics and Chemistry of Alkali Metal Adsorption, edited by H.P. Bonzel, A.M. Bradshaw, G. Ertl (Elsevier, Amsterdam, 1989), Materials Science Monographs, Vol. 57A.N. Klyucharev, N.N. Bezuglov, A.A. Matveev, A.A. Mihajlov, Lj.M. Ignjatović, M.S. Dimitrijević, New Astron. Rev. 51, 547 (2007)F. Hensel, Liquid Metals, edited by R. Evans, D.A. Greenwood, IOP Conf. Ser. No. 30 (IPPS, London, 1977)F. Hensel, S. Juengst, F. Noll, R. Winter, In Localisation and Metal Insulator Transitions, edited by D. Adler, H. Fritsche (Plenum Press, New York, 1985)N.F. Mott, Metal-Insulator Transitions (Taylor and Francis, London, 1974)H. Hess, Physics of nonideal plasmas, edited by W. Ebeling, A. Foerster, R. Radtke, B.G. Teubner (Leipzig, 1992)V. Sizyuk, A. Hassanein, T. Sizyuk, J. Appl. Phys. 100, 103106 (2006)S. Sadykova, W. Ebeling, I. Valuev, I. Sokolov, Contrib. Plasma Phys. 49, 388 (2009)H. Ebert, Physikalisches Taschenbuch (F. Vieweg & Sohn, Braunschweig, 1967)S.H. Glenzer, G. Gregori, R.W. Lee, F.J. Rogers, S.W. Pollaine, O.L. Landen, Phys. Rev. Lett. 90, 175002 (2003)G. Gregori, S.H. Glenzer, H.-K. Chung, D.H. Froula, R.W. Lee, N.B. Meezan, J.D. Moody, C. Niemann, O.L. Landen, B. Holst, R. Redmer, S.P. Regan, H. Sawada, J. Quant. Spectrosc. Radiat. Transfer 99, 225237 (2006)D. Riley, N.C. Woolsey, D. McSherry, I. Weaver, A. Djaoui, E. Nardi, Phys. Rev. Lett. 84, 1704 (2000)S.H. Glenzer, Phys. Rev. Lett. 98, 065002 (2007)J. Sheffield, Plasma Scattering of Electromagnetic Radiation (Academic Press, New York, 1975)A. Höll, Th. Bornath, L. Cao, T. Döppner, S. Düsterer, E. Föster, C. Fortmann, S.H. Glenzer, G. Gregori, T. Laarmann, K.-H. Meiwes-Broer, A. Przystawik, P. Radcliffe, R. Redmer, H. Reinholz, G. Röpke, R. Thiele, J. Tiggesbäumker, S. Toleikis, N.X. Truong, T. Tschentscher, I. Ushmann, U. Zastrau, High Energy Density Phys. 3, 120 (2007)Yu.V. Arkhipov, A. Askaruly, D. Ballester, A.E. Davletov, G.M. Meirkhanova, I.M. Tkachenko, Phys. Rev. E 76, 026403 (2007)Yu.V. Arkhipov, A. Askaruly, D. Ballester, A.E. Davletov, I.M. Tkachenko, G. Zwicknagel, Phys. Rev. E 81, 026402 (2010)J.P. Hansen, I.R. Mc. Donald, Phys. Rev. A 23, 2041 (1981)J.P. Hansen, E.L. Polock, I.R. McDonald, Phys. Rev. Lett. 32, 277 (1974)V. Schwarz, B. Holst, T. Bornath, C. Fortmann, W-D. Kraeft, R. Thiele, R. Redmer, G. Gregori, H. Ja Leed, T. Döppner, S.H. Glenzer, High Energy Density Phys. 5, 1 (2009)D.O. Gericke, K. Wünsch, J. Vorberger, Nucl. Instrum. Methods Phys. Res. A 606, 142 (2009)B. Bernu, D. Ceperley, Quantum Monte Carlo Methods in Physics and Chemistry, edited by M.P. Nightingale, C. Umrigar (Kluwer Academic Publishers, Boston, 1999), NATO ASI Series, Series C, Mathematical and Physical Sciences, Vol. C-525G. Kelbg, Ann. Physik 13 354 (1964)C. Deutsch, Phys. Lett. A 60, 317 (1977)H. Minoo, M.M. Gombert, C. Deutsch, Phys. Rev. A 23, 924 (1981)W. Ebeling, G.E. Norman, A.A. Valuev, I. Valuev, Contrib. Plasma Phys. 39, 61 (1999)A.V. Filinov, M. Bonitz, W. Ebeling, J. Phys. A. 36, 5957 (2003)H. Hellmann, J. Chem. Phys. 3, 61 (1935)H. Hellmann, Acta Fizicochem. USSR 1, 913 (1935)H. Hellmann, Acta Fizicochem. USSR 4, 225 (1936)H. Hellmann, W. Kassatotschkin, Acta Fizicochem. USSR 5, 23 (1936)W.A. Harrison, Pseudopotentials in the Theory of Metals (Benjamin, New York, 1966)V. Heine, M.L. Cohen, D. Weaire, Psevdopotenzcial'naya Teoriya (Mir, Moskva, 1973)V. Heine, The pseudopotential concept, edited by H. Ehrenreich, F. Seitz, D. Turnbull, Solid State Physics 24, 1 (Academic, New York 1970)G.L. Krasko, Z.A. Gurskii, JETP Lett. 9, 363 (1969)W. Ebeling, W.-D. Kraeft, D. Kremp, Theory of Bound State and Ionization Equilibrium in Plasmas and Solids (Akademie-Verlag, Berlin, 1976)W. Zimdahl, W. Ebeling, Ann. Phys. (Leipzig) 34, 9 (1977)W. Ebeling, C.-V. Meister, R. Saendig, 13 ICPIG (Berlin, 1977) 725W. Ebeling, C.V. Meister, R. Saendig, W.-D. Kraeft, Ann. Phys. 491, 321 (1979)N.N. Bogolyubov, Dynamical Theory Problems in Statistical Physics (in Russian) (GITTL, Moscow, 1946)N.N. Bogolyubov, Studies in Statistical Mechanics, Engl. Transl., edited by J. De Boer, G.E. Uhlenbeck (North-Holland, Amsterdam, 1962)H. Falkenhagen, Theorie der Elektrolyte (S. Hirzel Verlag, Leipzig, 1971), p. 369Yu.V. Arkhipov, F.B. Baimbetov, A.E. Davletov, Eur. Phys. J. D 8, 299 (2000)P. Seuferling, J. Vogel, C. Toepffer, Phys. Rev. A 40, 323 (1989)L. Szasz, Pseudopotential Theory of Atoms and Molecules (Wiley-Intersc., New York, 1985)W.H.E. Schwarz, Acta Phys. Hung. 27, 391 (1969)W.H.E. Schwarz, Theor. Chim. Acta 11, 307 (1968)N.P. Kovalenko, Yu.P. Krasnyj, U. Krey, Physics of Amorphous Metalls (Wiley-VCH, Weinheim, 2001)Z.A. Gurski, G.L. Krasko, Doklady Akademii Nauk SSSR (in Russian) 197, 810 (1971)C. Fiolhais, J.P. Perdew, S.Q. Armster, J.M. MacLaren, Phys. Rev. B 51, 14001 (1995)S.S. Dalgic, S. Dalgic, G. Tezgor, Phys. Chem. Liq. 40, 539, (2002)E.M. Apfelbaum, Phys. Chem. Liq., 48, 534 (2010)Yu.V. Arkhipov, A.E. Davletov, Phys. Lett. A 247, 339 (1998)W. Ebeling, J. Ortner, Physica Scripta T 75, 93 (1998)J. Ortner, F. Schautz, W. Ebeling, Phys. Rev. E 56, 4665 (1997)N.I. Akhieser, The classical Moment Problem (Oliver and Boyd, London, 1965)M.G. Krein, A.A. Nudel'man, The Markov Moment Problem and External Problems (American Mathematical Society, Translations, New York, 1977)M.J. Corbatón, I.M. Tkachenko, Int. Conference on Strongly Coupled Coulomb Systems (SCCS2008), Camerino, Italy, July-August, 2008, Book of Abstracts, p. 90V.M. Adamyan, A.A. Mihajlov, N.M. Sakan, V.A. Srećković, I.M. Tkachenko, J. Phys. A: Math. Theor. 42, 214005 (2009)S. Ichimaru, Statistical Plasma Physics, Vol. I: Basic Principles (Addison-Wesley, Redwood City, 1992)W. Ebeling, A. Foerster, W. Richert, H. Hess, Physics A 150, 159 (1988)H. Wagenknecht, W. Ebeling, A. Förster, Contrib. Plasma Phys. 41, 15 (2001

    Identification of sixteen novel candidate genes for late onset Parkinson’s disease

    Get PDF
    Background Parkinson’s disease (PD) is a neurodegenerative movement disorder affecting 1–5% of the general population for which neither effective cure nor early diagnostic tools are available that could tackle the pathology in the early phase. Here we report a multi-stage procedure to identify candidate genes likely involved in the etiopathogenesis of PD. Methods The study includes a discovery stage based on the analysis of whole exome data from 26 dominant late onset PD families, a validation analysis performed on 1542 independent PD patients and 706 controls from different cohorts and the assessment of polygenic variants load in the Italian cohort (394 unrelated patients and 203 controls). Results Family-based approach identified 28 disrupting variants in 26 candidate genes for PD including PARK2, PINK1, DJ-1(PARK7), LRRK2, HTRA2, FBXO7, EIF4G1, DNAJC6, DNAJC13, SNCAIP, AIMP2, CHMP1A, GIPC1, HMOX2, HSPA8, IMMT, KIF21B, KIF24, MAN2C1, RHOT2, SLC25A39, SPTBN1, TMEM175, TOMM22, TVP23A and ZSCAN21. Sixteen of them have not been associated to PD before, were expressed in mesencephalon and were involved in pathways potentially deregulated in PD. Mutation analysis in independent cohorts disclosed a significant excess of highly deleterious variants in cases (p = 0.0001), supporting their role in PD. Moreover, we demonstrated that the co-inheritance of multiple rare variants (≥ 2) in the 26 genes may predict PD occurrence in about 20% of patients, both familial and sporadic cases, with high specificity (> 93%; p = 4.4 × 10− 5). Moreover, our data highlight the fact that the genetic landmarks of late onset PD does not systematically differ between sporadic and familial forms, especially in the case of small nuclear families and underline the importance of rare variants in the genetics of sporadic PD. Furthermore, patients carrying multiple rare variants showed higher risk of manifesting dyskinesia induced by levodopa treatment. Conclusions Besides confirming the extreme genetic heterogeneity of PD, these data provide novel insights into the genetic of the disease and may be relevant for its prediction, diagnosis and treatment

    Use of anticoagulants and antiplatelet agents in stable outpatients with coronary artery disease and atrial fibrillation. International CLARIFY registry

    Get PDF

    Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

    Get PDF
    Background Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies. Methods For this cross-sectional study, we assessed children and adolescents younger than 18 years with a clinical or genetic diagnosis of HeFH at the time of entry into the Familial Hypercholesterolaemia Studies Collaboration (FHSC) registry between Oct 1, 2015, and Jan 31, 2021. Data in the registry were collected from 55 regional or national registries in 48 countries. Diagnoses relying on self-reported history of familial hypercholesterolaemia and suspected secondary hypercholesterolaemia were excluded from the registry; people with untreated LDL cholesterol (LDL-C) of at least 13·0 mmol/L were excluded from this study. Data were assessed overall and by WHO region, World Bank country income status, age, diagnostic criteria, and index-case status. The main outcome of this study was to assess current identification and management of children and adolescents with familial hypercholesterolaemia. Findings Of 63 093 individuals in the FHSC registry, 11 848 (18·8%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (50·2%) of 11 476 included individuals were female and 5720 (49·8%) were male. Sex data were missing for 372 (3·1%) of 11 848 individuals. Median age at registry entry was 9·6 years (IQR 5·8–13·2). 10 099 (89·9%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (10·1%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data were missing for 613 (5·2%) of 11 848 individuals. Genetic diagnosis was more common in children and adolescents from high-income countries (9427 [92·4%] of 10 202) than in children and adolescents from non-high-income countries (199 [48·0%] of 415). 3414 (31·6%) of 10 804 children or adolescents were index cases. Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (72·4%) of 10 428 included children or adolescents were not taking lipid-lowering medication (LLM) and had a median LDL-C of 5·00 mmol/L (IQR 4·05–6·08). Compared with genetic diagnosis, the use of unadapted clinical criteria intended for use in adults and reliant on more extreme phenotypes could result in 50–75% of children and adolescents with familial hypercholesterolaemia not being identified. Interpretation Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation. Where genetic testing is unavailable, increased availability and use of LDL-C measurements in the first few years of life could help reduce the current gap between prevalence and detection, enabling increased use of combination LLM to reach recommended LDL-C targets early in life. Funding Pfizer, Amgen, Merck Sharp & Dohme, Sanofi–Aventis, Daiichi Sankyo, and Regeneron

    Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

    Get PDF
    Background: Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies. Methods: For this cross-sectional study, we assessed children and adolescents younger than 18 years with a clinical or genetic diagnosis of HeFH at the time of entry into the Familial Hypercholesterolaemia Studies Collaboration (FHSC) registry between Oct 1, 2015, and Jan 31, 2021. Data in the registry were collected from 55 regional or national registries in 48 countries. Diagnoses relying on self-reported history of familial hypercholesterolaemia and suspected secondary hypercholesterolaemia were excluded from the registry; people with untreated LDL cholesterol (LDL-C) of at least 13·0 mmol/L were excluded from this study. Data were assessed overall and by WHO region, World Bank country income status, age, diagnostic criteria, and index-case status. The main outcome of this study was to assess current identification and management of children and adolescents with familial hypercholesterolaemia. Findings: Of 63 093 individuals in the FHSC registry, 11 848 (18·8%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (50·2%) of 11 476 included individuals were female and 5720 (49·8%) were male. Sex data were missing for 372 (3·1%) of 11 848 individuals. Median age at registry entry was 9·6 years (IQR 5·8-13·2). 10 099 (89·9%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (10·1%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data were missing for 613 (5·2%) of 11 848 individuals. Genetic diagnosis was more common in children and adolescents from high-income countries (9427 [92·4%] of 10 202) than in children and adolescents from non-high-income countries (199 [48·0%] of 415). 3414 (31·6%) of 10 804 children or adolescents were index cases. Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (72·4%) of 10 428 included children or adolescents were not taking lipid-lowering medication (LLM) and had a median LDL-C of 5·00 mmol/L (IQR 4·05-6·08). Compared with genetic diagnosis, the use of unadapted clinical criteria intended for use in adults and reliant on more extreme phenotypes could result in 50-75% of children and adolescents with familial hypercholesterolaemia not being identified. Interpretation: Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation. Where genetic testing is unavailable, increased availability and use of LDL-C measurements in the first few years of life could help reduce the current gap between prevalence and detection, enabling increased use of combination LLM to reach recommended LDL-C targets early in life
    corecore