Search Results - "ГЕНЕТИЧЕСКИЕ АСПЕКТЫ"

Source: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 66, № 4 (2021); 118-128 ; Российский вестник перинатологии и педиатрии; Том 66, № 4 (2021); 118-128 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2021-66-4

Subject Terms: генетические аспекты, familial homozygous hypercholesterolemia, lipid-lowering therapy, diagnostic criteria, genetic aspects, семейная гомозиготная гиперхолестеринемия, гиполипидемическая терапия, критерии диагностики

File Description: application/pdf

Relation: https://www.ped-perinatology.ru/jour/article/view/1453/1124; Gidding S.S., Champagne M.A., de Ferranti S.D., Defesche J., Ito M.K., Knowles JW. et al. The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association. Circulation 2015; 132(22): 2167-2192. DOI:10.1161/CIR.0000000000000297; Cuchel M., Bruckert E., GinsbergH. N., Raal F.J., Santos R. D., Hegele R.A. et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J 2014; 35(32): 2146–2157. DOI:10.1093/eurheartj/ehu274; Nordestgaard B.J., Chapman M.J., Humphries S.E., Gins-berg H.N., Masana L. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. Consensus Statement of the European Atherosclerosis Society. Eur Heart J 2013; 34(45): 3478–3490. DOI:10.1093/eurheartj/eht273; Sjouke B., Kusters D.M., Kindt I., BesselingJ., Defesche J.et al. Homozygous autosomal dominant hypercholesterolemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome. Eur Heart J 2015; 36(9): 560– 565. DOI:10.1093/eurheartj/ehu058; Usifo E., Leigh S.E., Whittall R.A., Lench N., Taylor A., Yeats C. Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment. Ann Hum Genet 2012; 76: 387–401. DOI:10.1111/j.1469–1809.2012.00724.x; Soutar A.K., Naoumova R.P. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardiovasc Med 2007; 4: 214–225. DOI:10.1038/ncpcardio0836; Raal F.J., Santos R.D. Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment. Atherosclerosis 2012; 223: 262–268. DOI:10.1016/j.atherosclerosis.2012.02.019; Horton J.D., Cohen J.C., Hobbs H.H. PCSK9: a convertase that coordinates LDL catabolism. Lipid Res 2009; 50(Suppl): S172–177. DOI:10.1194/jlr.R800091-JLR200; Akram O.N., Bernier A., Petrides F., Wong G., Lambert G. Beyond LDL cholesterol, a new role for PCSK9. Arterioscler Thromb Vasc Biol 2010; 30: 1279–1281. DOI:10.1161/ATVBAHA.110.209007; Lambert G., Sjouke B., Choque B., Kastelein J.J., HovinghG.K. The PCSK9 decade. J Lipid Res 2012; 53: 2515–2524. DOI:10.1194/jlr.R026658; WiegmanA.,GiddingS.,WattsG.,ChapmanM.,GinsbergH., CuchelM.etal. Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing. Eur Heart J 2015; 36: 2425–2437. DOI:10.1093/eurheartj/ehv157; France M. Homozygous familial hypercholesterolaemia: update on management. Paediatr Int Child Health 2016; 36(4): 243–247. DOI:10.1080/20469047.2016.1246640; Kolansky D.M., Cuchel M., Clark B.J., Paridon S., McCrindle B.W., Wiegers S. et al. Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia. Am J Cardiol 2008; 102: 1438–1444. DOI:10.1016/j.amjcard.2008.07.035; Macchiaiolo M., GagliardiM.G., Toscano A., Guccione P., Bartuli A. Homozygous familial hypercholesterolaemia. Lancet 2012; 379: 1330. DOI:10.1016/S0140-6736(11)61476-1; Gautschi M., Pavlovic M., Nuoffer J.M. Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemia. JIMD Rep 2012; 2: 45–50. DOI:10.1007/8904_2011_45; Леонтьева И.В., Довгань М.И., Мешков А.Н. Семейная гиперхолестеринемия как причина раннего атеросклероза у детей. В книге “Сложные диагностические случаи в практике детского врача” под ред. А.Д. Царегородцева, В.В. Длина. Москва: Орефлей 2010; 222–240.; RajendranR., Srinivasa K.H., RanganK., Hegde M., Ahmed N. Supra-valvular aortic stenosis in a patient with homozygous familial hypercholesterolaemia. Eur Heart J Cardiovasc Imag 2013;14: 1023. DOI:10.1093/ehjci/jet072; Koh T.W. Aortic root involvement in homozygous familial hypercholesterolemia transesophageal echocardiographic appearances of supravalvular aortic stenosis. Echocardiography 2005; 22: 859–860. DOI:10.1111/j.1540-8175.2005.00123.x; Santos R.D., Miname M.H., MartinezL.R., Rochitte C.E., Chacra A.P., Nakandakare E.R. et al. Non-invasive detection of aortic and coronary atherosclerosis in homozygous familial hypercholesterolemia by 64 slice multi-detector row computed tomography angiography. Atheroslerosis 2008; 197: 910– 915. DOI:10.1016/j.atherosclerosis.2007.08.017; Watts G.F., Gidding S., Wierzbicki A.S., Toth P.P., AlonsoR., Brown W. et al. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. Int J Cardiol 2014; 171(3): 309–25. DOI:10.1016/j.ijcard.2013.11.025; Raal F.J., Pilcher G.J., Panz V.R., van Deventer H.E., Brice B.C., Blom D.J. et al. Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy. Circulation 2011; 124: 2202–2207. DOI:10.1161/CIRCULATIONAHA.111.042523; Radaelli G., Sausen G., CiceriCesa C., Santo F., Porta V.,Neyeloff J.et al.Statin Treatments And Dosages In Children With Familial Hypercholesterolemia: Meta-Analysis. Arq Bras Cardiol 2018; 111(6): 810–821. DOI:10.5935/abc.20180180; Pisciotta L., Priore Oliva C., Pes G.M., Di Scala L., Bellocchio A., Fresa R. et al. Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison. Atherosclerosis 2006; 188: 398–405. DOI:10.1016/j.atherosclerosis.2005.11.016; De Jongh S., Ose L., Szamosi T., Gagne C., Lambert M., Scott R. et al. Simvastatin in Children Study Group: Efficacy and safety of statin therapy in children with familial hypercholesterolemia: a randomized, double-blind, placebo-controlled trial with simvastatin. Circulation 2002; 106: 2231–2237; Baigent C., Blackwell L. Cholesterol Treatment Trialists’ (CTT) Collaboration. Efficacy and safety of more intensive lowering of LDL cholesterol:a meta-analysis of data from 170,000 participants in 26 randomised trials. Lancet 2010; 376: 1670–1681. DOI:10.1016/S0140-6736(10)61350-5; Harada-Shiba M., Arai H., Oicava S., Ohta T.J. Guidelines for the management of familial hypercholesterolemia AtherosclerTromb 2012; 19: 1043–1060. DOI:10.5551/jat.14621; Gagné C., Gaudet D., Bruckert E. Ezetimibe Study Group. Efficacy and Safety of ezetimibe coadministered with atorvastatin or simvastatin in patients with homozygous familial hypercholesterolemia. Circulation 2002; 105(21): 2469–2475. DOI:10.1161/01.CIR.0000018744.58460.62; Stein E.A., Honarpour N., Wasserman S.M., Xu F., Scott R., Raal F.J. Effect of the Proprotein Convertase Subtilisin/ Kexin 9 Monoclonal Antibody, AMG 145, in Homozygous Familial Hypercholesterolemia. Circulation 2013; 128(19): 2113–2120. DOI:10.1161/CIRCULATIONA-HA.113.004678; Raal F.J., Honarpour N., Blom D.J., Hovingh G.K., Xu F., Scott R. et al. TESLA Investigators. Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial. Lancet 2015; 385(9965): 341–350. DOI:10.1016/S0140-6736(14)61374-X; Леонтьева И.В. Современные подходы к лечению семейной гомозиготной гиперхолестеринемии. Российский вестник перинатологии и педиатрии 2017; 62(4): 71–80.; Schuff-Werner P., Fenger S., Kohlschein P. Role of lipid apheresis in changing times. Clin Res Cardiol Suppl 2012; 7: 7–14. DOI:10.1007/s11789-012-0049-3; Stefanutti C., Julius U. Lipoprotein apheresis: state of the art and novelties. Atheroscler Suppl 2013; 14: 19–27. DOI:10.1111/j.1744-9987.2012.01142; Beliard S., Gallo A., Duchêne E., Carrié A., Bittar R., Chap-man J. et al. Lipoprotein-apheresis in familial hypercholesterolemia: Long-term patient compliance in a French cohort atherosclerosis. 2018. Atherosclerosis 2018; 277: 66–71. DOI: org/10.1016/j; Ibrahim M., El-Hamamsy I., Barbir M., Yacoub M.H. Translational lessons from a case of combined heart and liver transplantation for familial hypercholesterolemia 20 years post-operatively. J Cardiovasc Transl Res 2012; 5: 351–358. DOI:10.1007/s12265-011-9311-1; KucukkartallarT., Yankol.Y., KanmazT., Topaloglu S., AcarliK., KalayogluM. Liver transplantation as a treatment option for three siblings with homozygous familial hypercholesterolemia. Pediatr Transplant 2011; 15: 281–284. DOI:10.1111/j.1399-3046.2010.01469.x; Malatack J.J. Liver transplantation as treatment for familial homozygous hypercholesterolemia: too early or too late. Pediatr Transplant 2011; 15: 123–112. DOI:10.1111/j.1399-3046.2010.01458.x; MlinaricM., Bratanic N., Dragos V., Skarlovnik A., Cevc M., Battelino T. et al. Case Report: Liver Transplantation in Homozygous Familial Hypercholesterolemia (HoFH) – Long-Term Follow-Up of a Patient and Literature Review. Front Pediatr 2020; 8: article567895. DOI:10.3389/fped.2020.567895; Raper A., Kolansky D.M., Sachais B.S., Meagher E.A., Baer A.L., Cuchel M. Long-term clinical results of microsomal triglyceride transfer protein inhibitor use in a patient with homozygous familial hypercholesterolemia. J Clin Lipidol. 2015; 9(1): 107–112. DOI:10.1016/j.jacl.2014.08.005; Kolovou G., Diakoumakou O., Kolovou V., Fountas E., Stratakis S., Zacharis E. et al. Microsomal triglyceride transfer protein inhibitor (lomitapide) efficacy in the treatment of patients with homozygous familial hypercholesterolaemia. Eur J Prev Cardiol 2020; 27(2): 157–165. DOI:10.1177/2047487319870007; Chacra A.P.M., Ferrari M.C., Rocha V.Z., Santos R.D. Case report: The efficacy and safety of lomitapide in a homozygous familial hypercholesterolemic child. J Clin Lipidol 2019; 13: 397–401. DOI:10.1016/j.jacl.2019.03.001

Availability: https://www.ped-perinatology.ru/jour/article/view/1453
https://doi.org/10.21508/1027-4065-2021-66-4-118-128

View record from BASE

6

Academic Journal

Modern strategy of diagnosis and treatment of children with heterozygous familial hypercholesterolemia ; Современная стратегия диагностики и лечения семейной гетерозиготной гиперхолестеринемии у детей

Authors: I. V. Leontyeva, И. В. Леонтьева

Source: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 65, № 4 (2020); 27-40 ; Российский вестник перинатологии и педиатрии; Том 65, № 4 (2020); 27-40 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2020-65-4

Subject Terms: дифференциальная диагностика, adolescents, familial heterozygous hypercholesterolemia, cholesterol, low-density lipoprotein cholesterol, screening, lipid-lowering therapy, statins, diagnostic criteria, genetic aspects, differential diagnosis, подростки, семейная гетерозиготная гиперхолестеринемия, холестерин липопротеинов низкой плотности, скрининг, гиполипидемическая терапия, статины, критерии диагностики, генетические аспекты

File Description: application/pdf

Relation: https://www.ped-perinatology.ru/jour/article/view/1198/953; Gidding S.S., Champagne M.A., de Ferranti S.D., Defesche J., Ito M.K. et al. The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association. Circulation 2015; 132(22): 2167-2192. DOI:10.1161/CIR.0000000000000297; Nordestgaard B.J., Chapman M.J., Humphries S.E., Ginsberg H.N., Masana L. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. Consensus Statement of the European Atherosclerosis Society. Eur Heart J 2013; 34(45): 3478-3490. DOI:10.1093/eurheartj/eht273; Wiegman A., Gidding S., Watts G., Chapman M., Ginsberg H., Cuchel M. et al. Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing. Eur Heart J 2015; 36: 2425-2437. DOI:10.1093/eurheartj/ehv157; Ramaswamia U., Humphriesb S. E., Priestley-Barnhamc L., Greend P., Walde D.S., Cappsf N. Current management of children and young people with heterozygous familial hypercholesterolaemia — HEART UK statement of care. Atherosclerosis 2019; 290: 1—8. DOI:10.1016/j.atherosclero-sis.2019.09.005; Coakley J.C. Lipids in Children and Links to Adult Vascular Disease. Clin Biochem Rev 2018; 39(3): 65—76.; Ежов М.В., Бажан С.С., Ершова А.И., Мешков А.Н., Соколов А.А., Кухарчук В.В. и др. Клинические рекомендации по семейной гиперхолестеринемиии. Атеросклероз и дислипидемии 2019; 34(1): 5—43.; Daniels S.R., Gidding S.S., de Ferranti S.D. National Lipid Association Expert Panel on Familial Hypercholesterolemia. Pediatric aspects of familial hypercholesterolemias: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011; 5: S30—37. DOI:10.1016/j.jacl. 2011.03.453; Daniels S.R. Pediatric guidelines for dyslipidemia. J Clin Lipidol 2015; 9: S5—S10. DOI:10.1016/j.jacl.2015.03.105; Elkins C., Fruh S., Jones L., Bydalek К. Clinical Practice Recommendations for Pediatric Dyslipidemia J Pediatr Health Care 2019; 33: 494—504. DOI:10.1016/j.pedhc.2019.02.009; Cuchel M., Bruckert E., Ginsberg H.N., RaalF.J., Santos R.D., Hegel R.A. et al. Homozygous familial hypercholesterolae-mia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J 2014; 35(32): 2146—2157. DOI:10.1093/eurheartj/ehu274; Collins R., Reith C., Emberson J., Armitage J., Baigent C., Blackwell L. et al. Interpretation of the evidence for the efficacy and safety of statin therapy. Lancet 2016; 388: 2532—2561. DOI:10.1016/S0140-6736(16)31357-5; Ference B., GinsbergH., Graham I., Ray K., Packard C., Bruck-ert E. et al. Low-density lipoproteins cause atherosclerotic cardiovascular disease. 1. Evidence from genetic, epidemiologic, and clinical studies. A consensus statement from the European Atherosclerosis Society Consensus Panel. Eur Heart J 2017; 38(32): 2459—2472. DOI:10.1093/eurheartj/ehx144; Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: Summary Report. Pediatrics 2011; 128(S5):213—256. DOI:10.1542/peds.2009-2107C; Usifo E., Leigh S.E., Whittall R.A., Lench N., Taylor A., Yeats C. Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment. Ann Hum Genet 2012; 76: 387—401 DOI:10.1111/j.1469-1809.2012.00724.x; Raal F.J., Santos R.D. Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment. Atherosclerosis 2012; 223: 262—268. DOI:10.1016/j.atheroscle-rosis.2012.02.019; Lambert G., Sjouke B., Choque B., Kastelein J., Hovingh G.K. The PCSK9 decade. J Lipid Res 2012; 53: 2515—2524. DOI:10.1194/jlr.R026658; Watts G.F., Gidding S., Wierzbicki A.S., Toth P.P., Alonso R., Brown W. et al. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation Int J Cardiol 2014; 171(3): 309—325. DOI:10.1016/j.ijcard.2013.11.025; France M. Homozygous familial hypercholesterolaemia: update on management. Paediatr Int Child Health 2016; 36(4): 243—247/ DOI:10.1080/20469047.2016.1246640; Kolansky D.M., Cuchel M., Clark B.J., Paridon S., McCrin-dle B.W., Wiegers S. et al. Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia. Am J Cardiol 2008; 102: 1438—1444. DOI:10.1016/j.amjcard.2008.07.035; Rajendran R., Srinivasa K.H., Rangan K., Hegde M., Ahmed N. Supra-valvular aortic stenosis in a patient with homozygous familial hypercholesterolaemia. Eur Heart J Cardiovasc Imaging 2013; 14: 1023. DOI:10.1093/ehjci/jet072; Ference B., YooW., Ales I., Mahajan N.,Mirowska K.K., Me-wada A. et al. Effect of long-term exposure to lower low-density lipoprotein cholesterol beginning early in life on the risk of coronary heart disease: a Mendelian randomization analysis. J Am Coll Cardiol 2012; 60(25): 2631—2639.; Risk of fatal coronary heart disease in familial hypercholes-terolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ 1991; 303(6807): 893— 896. DOI:10.1136/bmj.303.6807.893; Kusters D.M, Wiegman A., Kastelein J.J, Hutten B.A. Carotid intima-media thickness in children with familial hypercholesterolemia. Circ Res 2014; 114: 307—310. DOI:10.1161/CIR-CRESAHA.114.301430; Kusters D.M., Avis H.J., Wijburg F.A., Kastelein J.J., Wiegman A., Hutten B.A. Ten-year follow-up after initiation of statin therapy in children with familial hypercholesterolemia. JAMA 2014; 312: 1055—1057. DOI:10.1001/jama.2014.8892; Youngblom E., Pariani M., Knowles J.W. Familial Hypercholesterolemia. 2014 [updated 2016]. In: Adam M.P., Arding-er H.H., Pagon R.A., Wallace S.E., Bean L.J.H., Stephens K., Amemiya A. (eds). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993—2020. http://www.ncbi.nlm.nih.gov/books/NBK174884/; Sjouke B., Kusters D.M., Kindt I., Besseling J., Defesche J.C, Sijbrands E. et al. Homozygous autosomal dominant hy-percholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome Eur Heart J 2015; 36(9): 560-565. DOI:10.1093/eurheartj/ehu058; Datta B.N., McDowell IF., Rees A. Integrating provision of specialist lipid services with cascade testing for familial hy-percholesterolaemia. Curr Opin Lipidol 2010; 21: 366-371. DOI:10.1097/MOL.0b013e32833c14e2; Wald D.S., Bestwick J.P., Wald N.J. Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis. BMJ 2007; 335: 599. DOI:10.1136/bmj.39300.616076.55; Kusters D.M., de Beaufort C., Widhalm K., Guardamagna O., Bratina N, Ose L., Wiegman A. Paediatric screening for hy-percholesterolaemia in Europe. Arch Dis Child 2012; 97: 272-276. DOI:10.1136/archdischild-2011-300081; Ritchie S.K., Murphy E.C., Ice C., Cottrell L.A., Minor V., Elliott E., Neal W. Universal versus targeted blood cholesterol screening among youth: the cardiac project. Pediatrics 2010; 126: 260-265. DOI:10.1542/peds.2009-2546; La Bresh K.A., Lazorick S, Ariza A.J., Furberg R.D., Whetstone L, Hobbs C. et al. Implementation of the NHLBI Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents: Rationale and Study Design for Young Hearts, Strong Starts, a Cluster-Randomized Trial Targeting Body Mass Index, Blood Pressure, and Tobacco. Contemp Clin Trials 2014; 37(1): 98-105. DOI:10.1016/j.cct.2013.11.011; Park J.H. Sitosterolemia Presenting With Severe Hypercholesterolemia and Intertriginous Xanthomas in a Breastfed Infant: Case Report and Brief Review. Clin Endocrinol Metab 2014; 99(5): 1512-1518. DOI:10.1210/jc.2013-3274; Reiner Z., Guardamagna C., Nair D, Soran H., Hovingh K, Bertolini S., Jones S. Acid Lipase Deficiency-An Under-Recognized Cause of Dyslipidaemia and Liver Dysfunction. Atherosclerosis. 2014; 235(1): 21-30. DOI:10.1016/j.atheroscle-rosis.2014.04.003; Bernstein D.L., Halkova H., Bialer M.G., Desnick R.J. Cho-lesteryl Ester Storage Disease: Review of the Findings in 135 Reported Patients With an Underdiagnosed Disease. J Hepatol 2013; 58(6): 1230-1243. DOI:10.1016/j.jhep.2013.02.014; Besseling J., Kindt I., Hof M., Kastelein J.J., Hutten B.A., Hovingh G.K. Severe heterozygous familial hypercholesterolemia and risk for cardiovascular disease: a study of a cohort of 14,000 mutation carriers. Atherosclerosis 2014; 233: 219— 223. DOI:10.1016/j.atherosclerosis.2013.12.020; 2015 Dietary Guidelines Advisory Committee. Scientific Report of the 2015 Dietary Guidelines Advisory Committee. 2015. http://www.health.gov/dietaryguidelines/2015-scien-tific-report/.; Gylling H., Plat J., Turley S., GinsbergH.N., EllegardL., Jessup W. et al. Atherosclerosis Society Consensus Panel on Phytosterols. Plant sterols and plant stanols in the management of dyslipidaem and prevention of cardiovascular disease. Atherosclerosis 2014; 232: 346-360. DOI:10.1016/j.atherosclerosis.2013.11.04; Davidson M.H., Dugan L.D., Burns J.H., Sugimoto D., Story K., Drennan K. A Psyllium-enriched cereal for the treatment of hypercholesterolemia in children: a controlled, double-blind, crossover study. Am J Clin Nutr 1996; 63: 96-102. DOI:10.1093/ajcn/63.1.96; McCrindle B.W., Helden E., Conner W.T.Garlic extract therapy in children with hypercholesterolemia. Arch Pediatr Adolesc Med 1998; 152: 1089-1094. DOI:10.1001/archpe-di.152.11.1089; Engler M.M., Engler M.B., Arterburn L.M., Bailey E., Chiu E.Y., Malloy M.J., Mietus-SnyderM.L. Docosahexaeno-ic acid supplementation alters plasma phospholipid fatty acid composition in hyperlipidemic children: results from the Endothelial Assessment of Risk from Lipids in Youth (EARLY) study. Nutr Res 2004; 24: 721-729.; Robinson J.G., Goldberg A.C., National Lipid Association Expert Panel on Familial Hypercholesterolemia. Treatment of adults with familial hypercholesterolemia and evidence for treatment: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011; 5(3 Suppl.): S18-S29. DOI:10.1016/j.jacl.2011.03.451; Sever P.S., ChangC.L, Gupta A.K., WhitehouseA., PoulterN.R. ASCOT Investigators. The Anglo-Scandinavian Cardiac Outcomes Trial: 11-year mortality follow-up of the lipid-lowering arm in the U.K. Eur Heart J 2011; 32: 2525-2532. DOI:10.1093/eurheartj/ehr333; Radaelli G., Sausen G, CiceriCesa C., Santo F., Porta V., Neye-loff J., Pellanda L. Statin Treatments And Dosages In Children With Familial Hypercholesterolemia: Meta-Analysis. Arq Bras Cardiol 2018; 111(6): 810-821. DOI:10.5935/abc.20180180/; VuorioA. ,Kuoppala J., Kovanen P.T., HumphriesS.E., Tonstad S., Wiegman A. et al. Statins for children with familial hypercholesterolemia (Review). Cochrane Database Syst Rev 2017; 7: CD006401. DOI:10.1002/14651858.CD006401.pub4; McCrindle B.W., Ose L., Marias D.A. Efficacy and safety of atorvastatin in children and adolescents with familial hypercholesterolemia or severe hyperlipidemia: a multicenter, randomized, placebo-controlled trial. J Pediatr 2003; 143(1): 74-80. DOI:10.1016/S0022-3476(03)00186-0; van der Graaf A., Nierman M., Firth J.C., Wolmarans K., Marais A.D., de Groot E. Efficacy and Safety of Fluvastatin in Children and Adolescents With Heterozygous Familial Hypercholesterolaemia l. Acta Paediatr 2006; 95(11): 14611466. DOI:10.1080/08035250600702602; Lambert M., Lupien P.J., Gagne C., Levy E., Blaichman S., Langlois S. et al. Treatment of Familial Hypercholesterolemia in Children and Adolescents: Effect of Lovastatin. Canadian Lovastatin in Children Study Group. Pediatrics 1996; 97(5): 619-628.; Rodenburg J., Vissers M.N., Wiegman A., Miller E.R., Ridker P.M., Witztum J.L. et al. Oxidized low-density lipoprotein in children with familial hypercholesterolemia and unaffected siblings: effect of pravastatin. J Am Coll Cardiol 2006; 47(9): 1803-1810. DOI:10.1016/j.jacc.2005.12.047; Avis L.M., Hutten.BA, Gagne C., Langslet G. McCrindle B.W., Wiegman A. et al. Efficacy and safety of rosuvastatin therapy for children with familial hypercholesterolemia. J Am Coll Cardiol 2010; 55(11): 1121-1126. DOI:10.1016/j.jacc.2009.10.042; De Jongh S., Ose L., Szamosi T., Gagne C., Lambert M., Scott R., Perron P. Simvastatin in Children Study Group: Efficacy and safety of statin therapy in children with familial hypercholesterolemia: a randomized, double-blind, placebo-controlled trial with simvastatin. Circulation 2002; 106: 2231-2237.; Reiner Z., Catapano A.L., De Backer G., Graham I., Taskin-en M.R., Wiklund O. et al. Guidelines for the management of dyslipidaemias: the Task Force for the management of dys-lipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS). Eur Heart J 2011; 32: 1769-1818. DOI:10.1093/eurheartj/ehr158; Braamskamp M., Langslet G, McCrindle B.W., Cassiman D., Francis G.A., Gagne C. et al. Effect of rosuvastatin therapy on carotid intima media thickness in children with familial hypercholesterolemia; findings from the CHARON study. Circulation 2017; 136(4): 359-366. DOI:10.1161/circulationa-ha.116.025158; Baigent C., Blackwell L. Cholesterol Treatment Trialists’ (CTT) Collaboration. Efficacy and safety of more intensive lowering of LDL cholesterol: a meta-analysis of data from 170,000 participants in 26 randomised trials. Lancet 2010; 376: 1670-1681. DOI:10.1016/S0140-6736(10)61350-5; Braamskamp M.J., Kusters D.M., Wiegman A., Avis H.J., Wijburg F.A., Kastelein J.J. et al. Gonadal steroids, gonadotropins and DHEAS in young adults with familial hypercholesterolemia who had initiated statin therapy in childhood. Atherosclerosis 2015; 241(2): 427-432. DOI:10.1016/j.ath-erosclerosis.2015.05.034; Kusters D.M., Avis H.J., Braamskamp M.J., Huijgen R., Wijburg F.A., Kastelein J.J. et al. Inheritance pattern of familial hypercholesterolemia and markers of cardiovascular risk. Lipid Res 2013; 54(9): 2543-2549. DOI:10.1194/jlr.M034538; Harada-Shiba M., Arai H., Oicava S, Ohta T.J. Guidelines for the management of familial hypercholesterolemia Athero-scler Tromb 2012; 19: 1043-1060.; Van der Graaf A., Cuffie-Jackson C., Vissers M.N., Trip M.D., Gagne C., Shi G. et al. Efficacy and safety of coadministration of ezetimibe and simvastatin in adolescents with heterozygous familial hypercholesterolemia. J Am Coll Cardiol 2008; 52(17): 1421-1429. DOI:10.1016/j.jacc.2008.09.002; Raal F.J., Stein E.A., Dufour R., Turner T., Civeira F., Burgess L. et al. PCSK9 inhibition with evolocumab (AMG 145) in heterozygous familial hypercholesterolaemia (RUTHERFORD-2): a randomised, double-blind, placebo-controlled trial. Lancet 2015; 385(9965): 331-340. DOI:10.1016/S0140-6736(14)61399-4.; Braamskamp M.J., Kusters D.M., Avis H.J., Smets E.M., Wijburg F.A., Kastelein J.J. et al. Long-term statin treatment in children with familial hypercholesterolemia: more insight into tolerability and adherence, Pediatr Drugs 2015; 17: 159— 166. DOI:10.1007/s40272-014-0116-y

Availability: https://www.ped-perinatology.ru/jour/article/view/1198
https://doi.org/10.21508/1027-4065-2020-65-4-27-40

View record from BASE

7

Academic Journal

Molecular genetic aspects of intrahepatic cholangiocarcinoma: literature review ; Молекулярно-генетические аспекты внутрипеченочного холангиоцеллюлярного рака: обзор литературы

Authors: Gurmikov B.N., Kovalenko Y.A., Vishnevsky V.A., Chzhao A.V.

Source: Advances in Molecular Oncology; Vol 6, No 1 (2019); 37-43 ; Успехи молекулярной онкологии; Vol 6, No 1 (2019); 37-43 ; 2413-3787 ; 2313-805X

Subject Terms: intrahepatic cholangiocarcinoma, molecular genetic aspects, targeted therapy, staging, внутрипеченочный холангиоцеллюлярный рак, молекулярно-генетические аспекты, таргетная терапия, стадирование