ves esta página sin formato por que esta hecha cumpliendo el estándar web CSS 2.
tú navegador no soporta este estándar, o tienes dicho soporte desactivado.
si estas en el primer caso, actualízate. merece mucho la pena.

MI PRIMERA BITACORA

Temas
  • Salud
  • <Febrero 2019
    Lu Ma Mi Ju Vi Sa Do
            1 2 3
    4 5 6 7 8 9 10
    11 12 13 14 15 16 17
    18 19 20 21 22 23 24
    25 26 27 28      


    WWW http://prueba.blogalia.com

    Blogs informática médica
    Medical Informatics
    Julio Bonis MD

    Blogs mantenidos por médicos
    Adolescentes
    Consulta joven virtual
    Copensalud
    Diario de un residente de cardiologia de Valencia
    Diario de un médico del SAS
    El bisturí
    Endocitosis de red
    La Dama de las Artemias
    Lluisalcanyis.org
    Nuevos modelos de gestión
    Primablog
    Una de médicos
    Vigilando la gripe
    Bitácora de Webcalidad
    Vila-real, t´estime

    Blogs de Diario Medico
    Panorama desde el puente
    La Semeca en Guatemala
    Política de salud de la UE
    Salud pública en acción
    En los pasillos de la bioética
    La Oncología Médica al día
    Congreso AHA 2005
    La Oncología Médica al día
    Ahí viene la plaga
    La Jungla de Cristal
    Ahí viene la plaga
    Síndrome de abstinencia

    Blogs mantenidos por enfermeros
    Blog Maite Martínez Lao
    Jetlageando

    Blogs mantenidos por pacientes y usuarios
    Fibromialiadori
    Hepatitis C Iberica
    HOSPITAL DE LA RIBERA DE ALZIRA, LA VERGÜENZA

    Otros Blogs de Salud
    Avenir de la Santé

    Blogs "super"
    atalaya
    eCuaderno
    cosa humeda

    Blogs femeninos
    A contraluz
    Allyenna
    Benko
    Biblioteca de Babel
    Evasivas
    Chicaconfaldaroja
    Lapetiteclaudine
    Maria milonas
    Mi libro de arena
    Yolandax

    Blogs de políticos
    Ramón Basas PSC-PSOE
    Rosa Maria Bonàs i Pahissa ERC
    Miquel Bofill ERC
    Gustavo de Arístegui PP
    Rafael Estrella PSOE
    Francesc Ferrer i Gironés ERC
    Carlos González PSOE
    Esteban González Pons PP
    J J Ibarretxe PNV
    Miquel Iceta PSOE-PSC
    L Martinez Oblanca PP
    Manel Mas PSOE-PSC
    J L Moreno PP
    L Muñoz Santamaría PSOE-PSC
    Enric Nomdedéu BNV
    J Puig Cordón ERC
    Alicia Sánchez PP
    Maria San Gil PP
    Francisco Toledo
    J A Torres Mora PSOE
    Francisco Valverde PSOE

    TRANSLATE

    Blogalia

    Blogalia


    ©2003 jrnegre

    AVISO
    Inicio > Historias > Paneles de miocardiopatía hipertrófica 2019-02-03

    Paneles de miocardiopatía hipertrófica

    Allá por el mes de marzo de 2018 puse una entrada sobre Health in Code. Hablaba de sus paneles diagnósticos para enfermedades cardiovasculares:

    También hablaba de los paneles para enfermedades neurológicas (Neurohic ) y en octubre añadí información sobre paneles para diversos tipos de cánceres (Cancerhic).

    En la estupenda Revista genética médica presentan el artículo de Kate L. Thomson y otros: Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.

    Dicen:

    The genetics of HCM is complicated by genetic heterogeneity, incomplete penetrance, variable expressivity, and phenocopies, and current testing achieves a firm/confident genetic diagnosis in only around 40% of patients.

    y por ello se busca otros genes que mejoren la capacidad diagnóstica de los paneles.

    En el panel de HIC los genes incorporados en la versión Panel Básico son 17 y en el Panel completo son 104 genes. Los 17 del básico son: ACTC1, DES, FLNC, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, TNNC1, TNNI3, TNNT2, TPM1, TTR.

    y en el artículo de Thomson  los genes son:

    Prior to recruitment, genetic testing of a minimum of 13 HCM genes was undertaken by the Oxford Medical Genetics Laboratory (OMGL), a United Kingdom Accreditation Service (UKAS)-accredited clinical diagnostic laboratory, or the Royal Brompton & Harefield NHS Foundation Trust. This included testing of the eight well-established sarcomeric HCM genes (MYBPC3, MYH7, TNNI3, TNNT2, MYL2, MYL3, ACTC1, TPM1), genes for common differential diagnoses (PRKAG2, GLA, FHL1), and other more rarely associated, but validated, HCM genes (CSRP3, PLN)

    --

    At the time of review (December 2016), 67 genes were listed for HCM, of which 16 were in OMGL’s HCM gene panel (ACTC1, ACTN2, ANKRD1, CSRP3, FHL1, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, TNNI3, TNNT2, TPM1).

    Los coincidentes en las tres relaciones son: ACTC1 GLA MYBPC3 MYH7 MYL2 MYL3 PLN PRKAG2 TNNI3 TNNT2 TPM1

    La conclusión del trabajo es que la inclusión de otros 51 genes, que la literatura da como posiblemente relacionados con la HCM,  no mejoran la capacidad diagnóstica del panel.


    Creo merece destacar que uno de los genes coincidentes (MYBPC3) es sobre el que Mitulipov et al dijeron en agosto de 2017 haber llevado a cabo edición génica en embriones:

    Correction of a pathogenic gene mutation in human embryos . Aunque dicho artículo se encuentra sometido a revisión:

    02 October 2017Editorial Note: Readers are alerted that some of the conclusions of this paper are subject to critiques that are being considered by editors. Some of these critiques have been publicly deposited in preprint form. A further editorial response will follow the resolution of these issues.



     

    2019-02-03 17:33 | 6 Comentarios


    Referencias (TrackBacks)

    URL de trackback de esta historia http://prueba.blogalia.com//trackbacks/77771

    Comentarios

    1
    De: annuaire Fecha: 2019-02-06 00:07

    good job



    2
    De: Jaipur Escorts Fecha: 2019-02-16 09:57

    Call girls in Faridabad
    escorts in Faridabad
    Faridabad escorts

    Faridabad escorts service
    escort service in Faridabad
    call girl Faridabad

    Faridabad call girls
    Faridabad escort service
    independent escorts in Faridabad

    ===============================================================


    independent call girls in Faridabad
    high profile call girls in Faridabad
    Russian escorts in Faridabad

    college call girls in Faridabad
    college escorts in Faridabad
    air hostess escorts in Faridabad

    escort agency in Faridabad
    vip russian escorts in faridabad
    vip escorts services in faridabad



    3
    De: JaipurEscorts Fecha: 2019-02-16 10:26

    Call girls in Faridabad
    escorts in Faridabad
    Faridabad escorts

    Faridabad escorts service
    escort service in Faridabad
    call girl Faridabad

    Faridabad call girls
    Faridabad escort service
    independent escorts in Faridabad

    ===============================================================


    independent call girls in Faridabad
    high profile call girls in Faridabad
    Russian escorts in Faridabad

    college call girls in Faridabad
    college escorts in Faridabad
    air hostess escorts in Faridabad

    escort agency in Faridabad
    vip russian escorts in faridabad
    vip escorts services in faridabad



    4
    De: JaipurEscorts Fecha: 2019-02-16 10:28

    ===========
    sehzadi
    ===========
    ||Jaipur Escorts||
    ||Jaipur Call girls||
    ||Escort service in Jaipur||

    ===========
    sweeti sinha
    ===========
    ||Jaipur Escorts||
    ||Escorts in Jaipur||
    ||Escort Services in Jaipur||

    ===========
    saumyaa
    ===========

    ||Call girls in Jaipur||
    ||Jaipur Call girls||
    ||Jaipur escorts||

    ===========================================================================================================================

    ===========
    sehzadi
    ===========
    ||Independent escorts in Jaipur
    ||Escort services in Jaipur
    ||Escorts in Jaipur

    ===========
    sweeti sinha
    ===========
    ||Jaipur Escort||
    ||Escort in Jaipur||
    ||Escort service in Jaipur||

    ===========
    saumyaa
    ===========
    ||Jaipur escort||
    ||Escorts in Jaipur||
    ||College escorts in Jaipur||

    ===========================================================================================================================
    ===========
    sehzadi
    ===========
    ||College call girls in Jaipur||
    ||Call girls in Jaipur||
    ||Jaipur Escorts||
    ===========
    sweeti sinha
    ===========
    ||Jaipur Call girls||
    ||Call Girls in Jaipur||
    ||Jaipur escorts||
    ===========
    saumyaa
    ===========
    ||Bollywood escorts in Jaipur||
    ||Celebrity Escorts in Jaipur||
    ||Air hostess escorts in Jaipur||

    ===========================================================================================================================

    ==============
    Jaipur escorts
    ==============

    ||College escorts in Jaipur||
    ||Escort services in jaipur||
    ||Escorts in jaipur||

    ||Escort service in Jaipur||
    ||Escorts in Jaipur||
    ||Jaipur Escort service||


    ||Call girls in Jaipur||
    ||Jaipur escorts||
    ||Call girl in Jaipur||

    ===========================================================================================================================

    ===========
    shreya-singh
    ===========
    ||Jaipur escorts||
    ||Escort service in Jaipur||
    ||Russian escorts in Jaipur||

    ||Jaipur call girl||
    ||Jaipur escorts||
    ||Model escorts in Jaipur||

    ||Air hostess escorts in Jaipur||
    ||Housewife escorts in Jaipur||
    ||College call girls in Jaipur||



    ===========
    shreya-singh
    ===========
    ||Escorts in Jaipur||
    ||Jaipur call girls||
    ||Escort service in Jaipur||

    ||Call girls in Jaipur||
    ||Celebrity escorts in Jaipur||
    ||Call girl in Jaipur||



    5
    De: web development company in patna Fecha: 2019-02-18 18:06

    Web Ocean Design is the best IT services provider for complete mobile and web application development. The young development company based in Bihar, India, owned and managed by Vicky who have a good amount of experience in Information Technology, Management and other related fields. We provide technical and creative services ranging from Internet Marketing to Communication maneuver. We are also skilled in website development which includes brand promotion, web designing and software development.

    ||website design company in patna||
    ||website development company in patna||
    ||website development in patna||

    ||web design company in patna||
    ||web development company in patna||
    ||website design in patna||

    ||website design patna||
    ||seo company in patna||
    ||seo company in bihar||

    ||best seo company in patna||
    ||digital marketing company in patna||
    ||best website design company in patna l,||

    ||affordable seo service in patna||
    ||website optimization in patna||
    ||educational internet marketing company patna||

    ||social media marketing company patna||
    ||real estate seo company in patna||
    ||ecommerce seo company patna||



    6
    De: armor games Fecha: 2019-02-20 07:42

    A great day and a very explicit information.



    Nombre
    Correo-e
    URL
    Dirección IP: 34.229.175.129 (4e726e61ae)
    Comentario
    ¿Cuánto es: diez mil + uno?

    portada | subir

    Listed on BlogShares