100% de satisfacción garantizada Inmediatamente disponible después del pago Tanto en línea como en PDF No estas atado a nada
logo-home
Buscado previamente por ti
Buscado previamente por ti
logo
High Yield COMLEX Level 1 Genetic Diseases Questions And Answers Latest Update!! $15.49
Añadir al carrito
Navegar rápidamente a
Vista previa
  2.  
  3. COMLEX
  4.  
  5. COMLEX

Examen

High Yield COMLEX Level 1 Genetic Diseases Questions And Answers Latest Update!!
 0 veces vendidas
  • Grado
  • COMLEX
  • Institución
  • COMLEX

The COMLEX-USA (Comprehensive Osteopathic Medical Licensing Examination of the United States) is a series of standardized medical board exams designed for osteopathic medical students and physicians. Administered by the National Board of Osteopathic Medical Examiners (NBOME), it evaluates candidate...

[Mostrar más]

Vista previa 3 fuera de 28  páginas

Información del documento

  • 23 de enero de 2025
  • 28
  • 2024/2025
  • Examen
  • Preguntas y respuestas

Temas

  • high yield comlex level 1 genetic diseases questio

Escuela, estudio y materia

  • COMLEX
  • COMLEX

Vendedor

avatar-seller
Schoolflix

Comentarios recibidos

Vista previa del contenido

Q&A


HIGH YIELD COMLEX LEVEL 1 GENETIC
DISEASES QUESTIONS AND ANSWERS LATEST
UPDATE!!



Lactose intolerance - Answers lactase deficiency



sx: flatulence, abdominal cramping, diarrhea



caused by deficiency in lactase, usually not congenital



LCT active in children, downregulated by MCM6 in adults



mutation in MCM6= can process lactose as an adult



tx: avoid dairy, lactaid



IRDS (infant respiratory distress syndrome) - Answers labs: low
lecithin/sphingomyelin ratio (<1.5)



problem: inability to inflate lungs, alveolar collapse, infant mortality

, Q&A



infants= deficienct in lung surfactant= premies, 1% of babies, but 20% of
deaths



tx: surfactant replacement, ventilation



Creutzfeldt-Jakob disease (CJD) - Answers degenerative disease in
the CNS, brain becomes riddled with holes



sx: psychiatric problems, behavior changes, pain



life expectancy after sx develop= 13+ months



PrP-C protein involved in the myelination and stem cell renewal, terminal
C-region of 40% alpha-helices, no beta-pleated sheets



PrP-Sc= misfolded, C-region becomes one long beta-pleated sheet



PrP-Sc corrupts PrP-C when touching it, leads to protein aggregation and
neuronal cell death



Lesch-Nyhan syndrome - Answers X-linked recessive (1380,000)



neuro+ behavioral changes (biting/head banging)

, Q&A



overproduce uric acid= gout/kidney stones



Caused by a defect in the HPRT1 gene encoding hypoxanthine-guanine
phopshoribosyltransferase1, an enzyme responsible for recycling purines
as well as making DNA and RNA.



Prader-Willi Syndrome (PWS) - Answers epigenetics



hypotonin, short stature, hypogonadism, intellectual disability, chronic
hunger



1/15,000



Caused by the deletion or silencing of up to 7 genes on the paternal
chromosome 15, combined imprinting defects on the maternal
chromosome. Some of these genes which are not expressed include
SNORD 116 and SNRPN which regulate alternative mRNA splicing. Their
deletion leads to an increase in production of ghrelin mRNA, causing
chronic hunger.



Bloom Syndrome - Answers AR inheritance of Ch15 causing DNA
fragility

Feats:

- short stature

- telangiectatic erythema of the face (improves with age)

Los beneficios de comprar resúmenes en Stuvia estan en línea:

Garantiza la calidad de los comentarios

Garantiza la calidad de los comentarios

Compradores de Stuvia evaluaron más de 700.000 resúmenes. Así estas seguro que compras los mejores documentos!

Compra fácil y rápido

Compra fácil y rápido

Puedes pagar rápidamente y en una vez con iDeal, tarjeta de crédito o con tu crédito de Stuvia. Sin tener que hacerte miembro.

Enfócate en lo más importante

Enfócate en lo más importante

Tus compañeros escriben los resúmenes. Por eso tienes la seguridad que tienes un resumen actual y confiable. Así llegas a la conclusión rapidamente!

Preguntas frecuentes

What do I get when I buy this document?

You get a PDF, available immediately after your purchase. The purchased document is accessible anytime, anywhere and indefinitely through your profile.

100% de satisfacción garantizada: ¿Cómo funciona?

Nuestra garantía de satisfacción le asegura que siempre encontrará un documento de estudio a tu medida. Tu rellenas un formulario y nuestro equipo de atención al cliente se encarga del resto.

Who am I buying this summary from?

Stuvia is a marketplace, so you are not buying this document from us, but from seller Schoolflix. Stuvia facilitates payment to the seller.

Will I be stuck with a subscription?

No, you only buy this summary for $15.49. You're not tied to anything after your purchase.

Can Stuvia be trusted?

4.6 stars on Google & Trustpilot (+1000 reviews)

45,681 summaries were sold in the last 30 days

Founded in 2010, the go-to place to buy summaries for 15 years now

Empieza a vender
$15.49
  • (0)
Añadir al carrito
Añadido