Avances en la Genética Humana
FibrosisQuística
Paulina Valverde
Start
01
Historia de la fibrosis quística
Historia de la Fibrosis Quística
1946
1938
1905
Siglo XV
1752
1595
1936
1839
1945
02
base genética
Base Genética
Canal de cloruro
Regula osmosis
7q3127 exones 1480 aa
- Vías respiratorias
- Tubo digeSTivo
- Páncreas
- Glandulas sudorípas
Alteración de viscosidad
Base Genética
Transmembrana
Unión a nucleótidos
Dominio R
Base Genética
Transmembrana
88%
22%
03
Síntomas y Epidemiología
Síntomas
Afectación pancreática
Afectación pulmonar
Sudor alterado
Epidemiología
80% Subdiagnosticados Alta heterogeneidad
1 de 25Heterocigotos
1:1252 RN
1:2,000 RN
04
Pruebas diagnósticas
Pruebas diagnósticas
- Detectar variaciones del gen CFTR
- Niveles altos de trigsigeno inmunorreactivo (IRT)
- Prueba de cloruro en el sudor
05
Tratamientos
Tratamientos
Antibióticos
Potenciadores CFTR
Solución Salina
Broncodilatadores
rEFERENCIAS
- Navarro, S. (2015). Recopilación Histórica de la Fibrosis Quística. Elsevier.39(1). 36-41. https://www.elsevier.es/es-revista-gastroenterologia-hepatologia-14-articulo-recopilacion-historica-fibrosis-quistica-S0210570515001156
- Collazo Mesa, Teresa. (2008). Fibrosis Quística: mutaciones más frecuentes en la población mundial. Revista Cubana de Investigaciones Biomédicas, 27(2) Recuperado en 23 de marzo de 2024, de http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0864-03002008000200004&lng=es&tlng=es.
- Núñez, J. (2004). Fibrósis Quística: aspectos genéticos. MedWave. 10.5867/medwave.2005.01.3372
NIH. (s/f). Fibrosis Quística. MedlinePlus. https://medlineplus.gov/spanish/ency/article/000107.htm
- Ávila, M.P. y Cevallos, A. (2021). Epidemiología de Fibrosis Quística en Ecuador entre los años 2011 a 2017 con datos oficiales del INEC. Tesis de grado. Universidad de las Americas. https://dspace.udla.edu.ec/bitstream/33000/13382/1/UDLA-EC-TMC-2021-01.pdf
- Lopardo, Horacio Ángel. (2021). Enfoques terapéuticos de la fibrosis quística basados en la clasificación genética de las mutaciones. Acta bioquímica clínica latinoamericana, 55(4), 419-420. Recuperado en 23 de marzo de 2024, de http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0325-29572021000500419&lng=es&tlng=es.
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Disciplines like Visual Thinking make it easier to visually capture rich notes using images, charts, infographics, and simple drawings. Go for it!
Disciplines like Visual Thinking make it easier to visually capture rich notes using images, charts, infographics, and simple drawings. Go for it!
Disciplines like Visual Thinking make it easier to visually capture rich notes using images, charts, infographics, and simple drawings. Go for it!
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Fibrosis Quística
paulina valverde
Created on March 23, 2024
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Transcript
Avances en la Genética Humana
FibrosisQuística
Paulina Valverde
Start
01
Historia de la fibrosis quística
Historia de la Fibrosis Quística
1946
1938
1905
Siglo XV
1752
1595
1936
1839
1945
02
base genética
Base Genética
Canal de cloruro
Regula osmosis
7q3127 exones 1480 aa
Alteración de viscosidad
Base Genética
Transmembrana
Unión a nucleótidos
Dominio R
Base Genética
Transmembrana
88%
22%
03
Síntomas y Epidemiología
Síntomas
Afectación pancreática
Afectación pulmonar
Sudor alterado
Epidemiología
80% Subdiagnosticados Alta heterogeneidad
1 de 25Heterocigotos
1:1252 RN
1:2,000 RN
04
Pruebas diagnósticas
Pruebas diagnósticas
05
Tratamientos
Tratamientos
Antibióticos
Potenciadores CFTR
Solución Salina
Broncodilatadores
rEFERENCIAS
Disciplines like Visual Thinking make it easier to visually capture rich notes using images, charts, infographics, and simple drawings. Go for it!
Write an awesome headline
We better grasp visual content. Visual content is associated with cognitive and psychological mechanisms. Things enter through the eyes, the first image is what counts. We associate visual content with emotions.
Visual content is a universal, cross-cutting language, like music. We are able to understand images from millions of years ago, even from other cultures.
Disciplines like Visual Thinking make it easier to visually capture rich notes using images, charts, infographics, and simple drawings. Go for it!
Disciplines like Visual Thinking make it easier to visually capture rich notes using images, charts, infographics, and simple drawings. Go for it!
Disciplines like Visual Thinking make it easier to visually capture rich notes using images, charts, infographics, and simple drawings. Go for it!
With this function...
You can add additional content that excites your audience's brain: videos, images, links, interactivity... Whatever you want!
Disciplines like Visual Thinking make it easier to visually capture rich notes using images, charts, infographics, and simple drawings. Go for it!
Disciplines like Visual Thinking make it easier to visually capture rich notes using images, charts, infographics, and simple drawings. Go for it!
Disciplines like Visual Thinking make it easier to visually capture rich notes using images, charts, infographics, and simple drawings. Go for it!
Disciplines like Visual Thinking make it easier to visually capture rich notes using images, charts, infographics, and simple drawings. Go for it!
Write an awesome headline
With Genially templates, you can include visual resources to leave your audience amazed. You can also highlight specific phrases or data that will be ingrained in the memory of your audience, and even embed external content that surprises: videos, photos, audios... whatever you want!