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Biomol > Enfermedades Ligadas Al Sexo > Flashcards

Enfermedades Ligadas Al Sexo Flashcards

(20 cards)

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1
Q

Hemofilia A

A

Deficiencia en factor 8 de coagulación

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2
Q

Gen dañado en hemofilia A

A

Locus Xq28 gen F8

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3
Q

Tratamiento para hemofilia A

A

Coagulantes

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4
Q

Tipos de hemofilia A

A

Severa: hemorragias espontáneas
Moderada: sangrado en articulaciones
Leve: sangrado prolongado en cirugía

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5
Q

Distrofia muscular DUCHENNE

A

Desorden primario y progresivo del músculo estriado

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6
Q

DUCHENNE

A

Trastorno neuromuscular hereditario más frecuente del ser humano

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7
Q

Incidencia de DUCHENNE

A

1 en 3,500

En becker es 7.2 en 100,000

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8
Q

Gen responsable de DUCHENNE

A

Xp21.2

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9
Q

Diferencia entre DUCHENNE y becker

A

La pérdida de caminar en DMD es antes de los 12 años y en becker es después de los 16 años

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10
Q

Tratamiento para DUCHENNE

A

Deflasacort

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11
Q

Síndrome de RETT

A

Forma más frecuente de retraso mental en mujeres (niñas)

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12
Q

Incidencia rett

A

1-10 en cada 15,000 mujeres recién nacidas

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13
Q

¿Qué causa rett en varones?

A

Es letal porque causa encefalopatia infantil
Retraso mental
Psicosis

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14
Q

Gen responsable de RETT

A

MeCP2

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15
Q

Tipo de mutación en RETT

A

Amorfa

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16
Q

¿Cuándo se presenta el sx de RETT ?

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A

Después de nacer, nacen normales y van perdiendo capacidades se comienzan a tomar las manos de una forma muy característica

17
Q

Raquitismo

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A

Hipofosfatemico resistente a vitamina d, incapacidad del tubulo renal para la reabsorción de fosfatos = disminuye absorción intestinal de fosfato y calcio

18
Q

Raquitismo en muj y hom

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A

No letal en varones y mujeres con cuadro clínico severo

19
Q

Gen involucrado en raquitismo

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A

Gen PHEX (Xp 22.1) codifica a una endopeptidasa

20
Q

Cuadro clínico en raquitismo

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A

Talla baja
Alteraciones dentarías
Osteoporosis

Biomol (3 decks)

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