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Genetica > Enfermedsdes Multifacotriales Adultos > Flashcards

Enfermedsdes Multifacotriales Adultos Flashcards

1
Q

Diabetes tipo 1 causa y tx

A

Destruccion autoinmune de islote de Langerhans por HLA 2
Tx insulina

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2
Q

Diabetes Tipo 2 causa y tx

A

Resistencia insulina, obesidad
GEN CAPN 10
Tx Metformina y sulfonilureas

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3
Q

GEN HNF1A herenciA Autosomica dominante

A

Diabetes ModY causa disfunción de la célula B

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4
Q

Gen KCNJ11
Herencia AD

A

Diabetes Neonatal antes de los 6 meses
Disfunción. Celula B

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5
Q

Obesidad gen

A

LEPR
LEP MC4R

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6
Q

Obesidad cc

A

IMC CORPORAL >30
Hiperfaiga
Hiperinsulinemia
Hipogonadismo

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7
Q

Alzheimer factores de riesgo

A

Edad ser mujer
Historia familiar
TCE
ECV
HIPERCOLESTEROLEMIA
TABAQUISMO
HTA
SD DOWN

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8
Q

Gen APOE
HERENCIA AD y dx

A

Alzheimer
Dx postmortem TAC EEG

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9
Q

Gen LLRK2 o PARK8
Herencia AD

A

Párkinson

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10
Q

Gen PRKN
HERENCIA AR

A

Párkinson

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11
Q

PÁRKINSON FACTORES DE RIESGO
Y CC

A

Degeneración de neuronas sustancia negra y locus ceruleo
Lácteos melanoma Pesticidas TCE
Temblor en reposo, rigidez muscular

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12
Q

DX TAC METSBOLISMO DE LA DOPAMINA MLPA
TX INHIBIDOFES DE LA COMR Y MAO

A

Parkinson

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13
Q

Gen LDLR
CAUSA ATEROESCLEROSIS HIPERCOLESTEROLEMIA

A

Enf coronaria

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14
Q

Retinoblastoma
Tumor embrionario de la retina
Mutación

A

Mutación 13q14.2

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15
Q

Leucocoria
Estrabismo
Reducción de la agudeza visual

A

Retina blastoma

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16
Q

Restinoblastoma Dx y Tx

A

Dx Secuenciacion de RB1
Tx evitar radioterapia

17
Q

Sd Li-Fraumeni
Gen

A

Gen TP53

18
Q

Carcinomas adrenocorticales
Carcinoma de mama
Dx y TX

A

Criterios de Chompret, secuenciación de TP53
Tx evitar radioterapia

19
Q

GEN BRCA1 y BRCA2

A

CA DE MAMA Y OVSRIO HEREDITARIO

20
Q

17q21 y 13q12 mutación de genes

A

BRCA1 BRCA2

21
Q

Mutación 5q21

A

Gen APC
CA COLON POLIQUISTICO

22
Q

Pólipos en tracto gastrointestinal
Osteomas
Dx pólipos de colonoscopia, secuenciación APC

A

CA COLON POLIPOSICO

23
Q

Sindrome de Lynch

A

Mutación 2p21 y 3p21
Genes MMR (MSH2, MLH1)

Genetica (16 decks)

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