학술논문

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학술논문
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'학술논문' 에서의 검색결과 5건 | 목록 1~10

  • 7 .
    Epidemiological, phenotypic and molecular characteristics of a group of patients with Epidermolysis bullosa in Colombia from 2009 to 2018
    저자
    by Buitrago-Medina, Daniel-Alejandro; Rivera-Nieto, Carolina; Rivera-Nieto, Carolina; Buitrago-Medina, Daniel-Alejandro
    소스
    Intong LRA, Murrell DF. Inherited epidermolysis bullosa: New diagnostic criteria and classification. Clin Dermatol [Internet]. 2012;30(1):70–7. Available from: http://dx.doi.org/10.1016/j.clindermatol.2011.03.012
    Fine J. Inherited epidermolysis bullosa. 2010;1–17.
    Qué es EB – Debra Colombia [Internet]. [cited 2021 Mar 16]. Available from: https://debracolombia.org/que-es-eb/
    Torres-Iberico R, Palomo-Luck P, Torres-Ramos G, Lipa-Chancolla R. Epidermolysis bullosa in Peru: Clinical and epidemiological study of patients treated in a national reference pediatric hospital, 1993-2015. Rev Peru Med Exp Salud Publica. 2017;34(2):201–8.
    Fine JD. Epidemiology of inherited epidermolysis bullosa based on incidence and prevalence estimates from the national epidermolysis Bullosa registry. JAMA Dermatology. 2016;152(11):1231–8.
    Mellerio JE, Robertson SJ, Bernardis C, Diem A, Fine JD, George R, et al. Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa : best clinical practice guidelines. 2015;1–12.
    Pareja Arcila ML. Situación actual de las enfermedades huérfanas en Colombia 2017. CES Derecho. 2017;8(2):231–41.
    Pages-Catálogo de información [Internet]. [cited 2021 Mar 16]. Available from: https://www.sispro.gov.co/catalogos/Pages/catalogo-de-informacion.aspx
    Zillmann G, Ga P, Kra SM, Carrasco-labra A, Oliva P, Araya I. Oral Health Care for Patients with Epidermolysis Bullosa-Best Clinical Practice Guidelines. 2012;1–35.
    Goldschneider KR, Good J, Harrop E, Liossi C, Lynch-jordan A, Martinez AE, et al. Pain care for patients with epidermolysis bullosa : best care practice guidelines. 2014;1–23
    Fine JD, Eady RAJ, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, et al. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol. 2008;58(6):931–50.
    Uitto J, Bruckner-Tuderman L, Christiano A, McGrath JA, Has C, South A, et al. Progress Towards Treatment and cure of Epidermolysis Bullosa: Summary of theDEBRA International Research Symposium EB2015. J Invest Dermatology. 2016;136(1):352–8.
    Sawamura D, Nakano H, Matsuzaki Y. Overview of epidermolysis bullosa. J Dermatol. 2010;37(3):214–9.
    Vergara P, Vergara Amador E, Solaque H. De Casos Presentación. 14:274–80. Available from: http://www.scielo.org.co/pdf/rfmun/v57n3/v57n3a08.pdf
    Barbosa NM, Visioli F, Martins MD, Martins MAT, Munerato MC. Oral manifestations in Kindler syndrome: case report and discussion of literature findings. Spec Care Dent. 2016;36(4):223–30
    Yenamandra VK, Moss C, Sreenivas V, Khan M, Sivasubbu S, Sharma VK, et al. Development of a clinical diagnostic matrix for characterizing inherited epidermolysis bullosa *. 2017;1624–32
    V AD, Has C, Küsel J, Reimer A, Hoffmann J, Schauer F, et al. The Position of Targeted Next-generation Sequencing in Epidermo ­ lysis Bullosa Diagnosis. 2018;437–40.
    Cohn HI, Teng JMC. Advancement in management of epidermolysis bullosa. Curr Opin Pediatr. 2016;28(4):507–16
    Epidermolysis bullosa-Treatment-NHS [Internet]. [cited 2021 Mar 16]. Available from: https://www.nhs.uk/conditions/epidermolysis-bullosa/treatment/
    Lloyd C, Yu QC, Cheng J, Turksen K, Degenstein L, Hutton E, et al. The basal keratin network of stratified squamous epithelia: Defining K15 function in the absence of K14. J Cell Biol. 1995;129(5):1329–44
    Pathogenesis BL, Bruckner-tuderman L. Pathogenesis of mechanobuUous disorders. 1992;115–20.
    Nacional SP. Informe Rápido de Contexto ( IRC ) Características y Prevalencia de la Epidermolisis Bullosa o Ampollar. 2011;1–5.
    Vázquez Estévez JJ. Eficacia del tratamiento con piel quimérica cultivada de las lesiones cutáneas en pacientes con epidermolisis bullosa distrófica recesiva . 2012;1–233
    Alvarez O, Ortiz Robayo D. Caracteristicas demograficas, clinicas y farmacologicas de pacientes con epidermolisis Bullosa: Estudio de corte transversal. 2016
    Sierra M. Tema : “ Evolución Clínica De La Epidermiolisis Bullosa Neonatal En El Servicio De Neonatología Hospital Para El Niño Imiem .” 2014
    Revuelta LA, Ruíz DR, Guerra D, Bravo E. Epidermólisis bullosa. Presentación de un caso. Epydermolisis Bullosa. Case presentation. 2016;22–34. Available from: http://scielo.sld.cu/pdf/ms/v14n6/ms17614.pdf
    D’Amato-Gutierrez M, García M, Giraldo G, Bayona CT, Garrido A, Orozco JC, et al. Reporte de Caso. Epidermolisis Bullosa distrófica hereditaria en gemelas. Medellín, Colombia. Rev argentina dermatología. 2019;100(2):51–60
    García-Romero MT, Becerril-Rico J, Dabdoub-Hernández AA. Epidermolysis bullosas: An analysis of the cost of medical care in Mexico. Med Interna Mex. 2019;35(1):30–8
    García Cruz EX, de la Teja Ángeles E, Durán Gutiérrez LA. Rehabilitación bucal bajo anestesia general en un paciente pediátrico con diagnóstico de epidermólisis bullosa. Reporte de un caso. Rev Odontológica Mex [Internet]. 2013;17(2):111–6. Available from: http://dx.doi.org/10.1016/S1870-199X(13)72025-1
    Vidal G, Carrau F, Lizarraga M, Álvarez M. Epidermólisis ampollar: a propósito de un caso clínico Epydermolisis bullosa, one clinical case Epidermólise bolhosa, um caso clínico. 2018;89(6):382–8
    Fine JD, Johnson LB, Weiner M, Li KP, Suchindran C. Epidermolysis bullosa and the risk of life-threatening cancers: The National EB Registry experience, 1986-2006. J Am Acad Dermatol [Internet]. 2009;60(2):203–11. Available from: http://dx.doi.org/10.1016/j.jaad.2008.09.035
    Repositorio EdocUR-U. Rosario
    Universidad del Rosario
    instacron:Universidad del Rosario
  • 6 .
    Calidad de vida en pacientes con distrofia muscular de duchenne y sus cuidadores pertenecientes a la Fundación Colombiana de Distrofia Muscular en el año 2019
    저자
    by Villabona, Silvia; Barros Valderrama, Istria Beatriz; OSPINA LADINO, MARIA CRISTINA; Rivera-Nieto, Carolina
    소스
    Muntoni F, Torelli S, y Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. The Lancet Neurology. 2003; 2: 731-740
    Uttley L, Carlton J, Buckley H & Brazier J. A review of quality of life themes in Duchenne muscular dystrophy for patients and carers. Health and Quality of Life Outcomes. 2018; 16 (237): 1-16
    Birnkrant D, Bushby K, Bann C, Apkon S, Blackwell A, Brumbaugh D, et al. Diagnosis and Management of Duchenne Muscular Dystrophy, Part 1: Diagnosis, and Neuromuscular, Rehabilitation, Endocrine, and Gastrointestinal and Nutritional Management. Lancet Neurol. 2018; 17 (3): 251-267. doi: 10.1016 / S1474-4422 (18) 30024-3
    Eckardt, L. and Harzer, W. Facial structure and functional findings in patients with progressive muscular dystrophy (Duchenne). American Journal of Orthodontics and Dentofacial Orthopedics, 1996; 110: 185–190
    Wei Y, Nixon K, Zou G & Campbell C. The relationship between quality of life and health-related quality of life in young males with Duchenne muscular dystrophy. Developmental Medicine & Child Neurology, 2017; 59: 1152–1157. DOI: 10.1111/dmcn.13574
    MINSALUD. Metodología para la identificación, selección y ordenamiento para evaluación de ayudas diagnósticas para enfermedades de baja prevalencia (huérfanas, raras), y resultados de su aplicación. Ministerio de Salud de Colombia. 2015
    Martínes JC y Misnaza SP. Mortalidad por enfermedades huérfanas en Colombia, 2008-2013. Revista Biomédica. 2018; 38 (2): 198-208. DOI: 10.7705/biomedica.v38i0.3876
    FEDER: Federación Española de Enfermedades Raras [Internet]. Madrid: Feder c2015 [citado 12 jun 2020]. Disponible en: https://enfermedades-raras.org/index.php/component/content/article?id=3100&idpat=10002007
    UPA: UPA! Cura Duchenne [Internet] Unión Europea: TREAT-NMD [citado 12 jun 2020]. Diagnóstico y Manejo de la Distrofia Muscular Duchenne, una guía para familias. [36 páginas]. Disponible en: http://www.treat-nmd.eu/downloads/file/standardsofcare/dmd/spanish/dmdmdffg_master_spanish_upa.pdf
    Garcia S. Identificación mediante MLPA (Multiplex Ligation-Dependent Probe Amplification) de las deleciones y duplicaciones de la Distrofia Muscular de Duchenne en varones afectados y mujeres portadoras pertenecientes a la población andaluza. Tesis doctoral. Universidad de Granada. 2015; España
    Crisafulli S, Sultana J, Fontana A, Salvo F, Messina S & Trifiro G. Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis. Orphanet Journal of Rare Diseases. 2020; 15 (141). DOI: https://doi.org/10.1186/s13023-020-01430-8
    Ryder S, Leadley RM, Armstrong N, Westwood M, De Kock S, Butt T, et al. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Orphanet Journal of Rare Diseases. 2017; 12 (79). DOI 10.1186/s13023-017-0631-3
    Hellebrekers D, Lionarons J, Faber C, Klinkenberg S, Vles J & Hendriksen J. Instruments for the Assessment of Behavioral and Psychosocial Functioning in Duchenne and Becker Muscular Dystrophy; a Systematic Review of the Literature. Journal of Pediatric Psychology. 2019; 44 (10): 1205-1223. Doi: 10.1093/jpepsy/jsz062
    Daoud et al. Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. Hum Mol Genet. 2009; 18(20):3779-94
    Thayer S, Bell C & McDonald C. The Direct Cost of Managing a Rare Disease: Assessing Medical and Pharmacy Costs Associated with Duchenne Muscular Dystrophy in the United States. Journal of Managed Care & Specialty Pharmacy. 2017; 23 (6): 633-641
    Monaco et al. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics. 1988; 2: 90-95
    Sánchez R. Caracterización Molecular de CNVs. Mutaciones Sin Sentido y de Splicing en Enfermedades Metabólicas Hereditarias. Investigación en terapias personalizadas. Universidad Autónoma de Madrid, Tesis Doctoral [Internet]. 2012 [citado 12 jun 2020]: 1-179. Disponible en: https://repositorio.uam.es/bitstream/handle/10486/11257/56169_sanchez_alcudia_rocio.pdf?sequence=1&isAllowed=y
    Mokri et al. Duchenne dystrophy: electron microscopic findings pointing to basic or early abnormality in the plasma membrane of the muscle fiber. Neurology. 1975; 25: 1111-20
    Cullen et al. Stages in fibre breakdown in Duchenne muscular dystrophy: An electron-microscopic study. J Neurol Sci. 1975; 24: 179-200
    Yiu E & Kornberg A. Duchenne muscular dystrophy. Journal of Paediatrics and Child Health. 2015; 51 (8): 759-764. Doi:10.1111/jpc.12868
    Nascimiento A, Medina J, Camacho A, Madruga M y Vílchez J. Consenso para el diagnóstico, tratamiento y seguimiento del paciente con distrofia muscular de Duchenne. Revista Neurología. 2019; 34 (7): 469-481
    Guapi H. y García J. Distrofia muscular de Duchenne: reportes de caso. Univ Med. 2017; 58(4):1-6. doi: Recuperado de: http://dx.doi.org/1 0.11144/Javeriana.umed58-4.duch
    Chaustre D. y Chona W. Distrofia muscular de Duchenne. Perspectivas desde la rehabilitación. Revista Med. 2014; 19 (1): 45-55. Disponible en: http://www.scielo.org.co/pdf/med/v19n1/v19n1a05.pdf
    Gualandril A. y Jiménez M. Distrofia muscular de Duchenne y defecto de oxidación de ácidos grasos en un paciente pediátrico. Acta méd. Costarric, 2014; vol.56 n.3 San José. Disponible en: www.scielo.sa.cr/scielo.php?script=sci_arttext&pid=S0001-60022014000300009
    Bendixen R, Morgenroth L & Clinard K. Engaging Participants in Rare Disease Research: A Qualitative Study of Duchenne Muscular Dystrophy. Clinical Therapeutics. 2016; 38 (6): 1474-1484. DOI:https://doi.org/10.1016/j.clinthera.2016.04.001
    Aartsma-Rus A, Hegde M, Ben-Omran T, Witcomb L, Yau S, Nelson S. et al. Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy. The Journal of Pediatrics. 2019; (204): 305-313. DOI:https://doi.org/10.1016/j.jpeds.2018.10.043
    Soltanzadeh et al. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord. 2010; 20:499–504
    Coral et al. Distrofias musculares en México: un enfoque clínico, bioquímico y molecular. Rev de Esp MedQuirur (México). 2014; 15(3):152-60
    Biggar D. Duchenne muscular dystrophy. Peds in Review. 2015; 27(3):83-88
    Carafoli et al. Calpain: a protease in search of a function? Biochem Biophys Res Commun. 1998; 247: 193-203
    Brooke et al. CIDD Group. Duchenne muscular dystrophy: patterns of clinical progression and effects of supportive therapy. Neurology. 1989; 39: 475-81
    Koehler J. Blood vessel structure in Duchenne muscular dystrophy: Light and electron microscopic observations in resting muscle. Neurology. 1977; 27: 861-8
    De Bari et al. Skeletal muscle repairs by adult human mesenchymal stem cells from sinovial membrane. J Cell Biol. 2003; 160: 909-18
    Spencer M. y Mellgren R. Overexpression of a clpastatin transgene in mdx muscle reduces dystrophic pathology. Hum Mol Genet. 2002; 112645-55
    Van Ruiten HJ, Straub V, Bushby K, Guglieri M. Improving recognition of Duchenne muscular dystrophy: A retrospective case note review. Arch Dis Child., 2014; 99: pp. 1074-107
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    Lalic T, Vossen R.H, Coffa J, Schouten J.P, Guc-Scekic M, Radivojevic D, et al. Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet. 2005; 13: pp. 1231-1234
    Flanigan KM, Von Niederhausern A, Dunn DM, Alder J, Mendell JR, Weiss RB. Rapid direct sequence analysis of the dystrophin gene. Am J Hum Genet. 2003; 72: pp. 931-939
    Repositorio EdocUR-U. Rosario
    Universidad del Rosario
    instacron:Universidad del Rosario
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