Shared Flashcard Set

Details

BP Exam 3 (Week 1) - CC
Clinical Correlates, Pathology, Pharmacology, and Pathophysiology
17
Medical
Professional
08/19/2008

Additional Medical Flashcards

 


 

Cards

Term
Muscular Dystrophy
Definition

X-linked genetic disorder of the membrane-associated protein DYSTROPHIN

 

A disease of muscle structure

 

(Duchenne Muscular Dystrophy is the most common form)

Term
Botulinum Toxin
Definition
A toxin that prevents the fusion of synaptic vesicles with the presynaptic membrane, preventing ACh release
Term
Myasthenia Gravis
Definition

Autoimmune attack mediated by autoantibodies against ACh receptors

 

A disease of neuromuscular junctions

 

Results in progressive lost of neuromuscular control

 

Attributes: Widened synaptic cleft, decreased number of ACh receptors, postsynaptic membrane surface area decreasesd

Term
Phospholamban (PLB)
Definition
Inhibits SR Ca2+ ATPase (SERCA) activity
Term
Long-chain Acyl-CoA Dehydrogenase (LCAD) Deficiency
Definition
  • Infancy
  • Failure to Thrive
  • Hepatomegaly
  • Nonketotic Hypoglycemia
Term
Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
Definition
  • Most common
  • Mild myopathy in childhood
Term
Short-chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
Definition
  • Very rare
  • Some infants: failure to thrive, nonketotic hypoglycemia
  • Mild myopathy in a few patients
Term
Carnitine Pamitoyl Transferase Deficiency (CPT)
Definition
  • Two forms: CPT-I, CPT-II
  • Autosomal recessive
  • Typically no family history
  • Rare
Term

Molecular Pathology of

Hemophilia

Definition

Deletion of Entire Structural Gene

(Factor VIII)

Term

Molecular Pathology of

β-Thalassemia

Definition

Deletion of Entire Structural Gene

 

Major - Lethal, affects both β globin genes

 

Minor - Mild, microcytic anemia, affects only one β globin gene

Term

 Molecular Pathology of

Duchenne Muscular Dystrophy

& Becker Muscular Dystrophy

Definition

Partial Gene Deletion

 

Dystrophin gene (X-linked)

 

DMD: Out-of-frame deletion (more severe)

 

Becker: In-frame deletion (less severe)

 

Exon duplication in 5% of cases

Term

Molecular Pathology of

Fragile X,

Myotonic Dystrophy,

and Huntington's

Definition

Insertion or Amplification of DNA Sequences

 

Specifically, polymorphic triplet repeats

 

Fragile X: CGG

 

Myotonic Dystrophy: CTG

 

Huntington's: CAG

Term

Molecular Pathology of

Certain Cancers

(Colerectal, Gastric,

and Endometrial Carcinomas)

Definition

Microsatellite Instability

 

Defective mismatch repair (MMR) gene

Term

Molecular Pathology of

Alu Elements

Definition

Insertion of Sequences within a Gene

 

Alu elements may "jump" into a coding sequence (lethal)

Term

Molecular Pathology of

Cystic Fibrosis (CF)

Definition

Codon Deletion

 

Loss of residue Phe-508 in the cystic fibrosis transmembrane regulator (CFTR)

 

Detected by PCR

Term

Molecular Pathology of

Ehlers-Danlos Syndrome

Definition

Point Mutation

Prevention of Posttranscriptional Processing

 

Results in hyper-mobility of joints

 

Loss of exon 6 (COL1A2 gene: α2 chain of procollagen)

 

Autosomal dominant

Term

Molecular Pathology of

Factor V Leiden Mutation

Definition

Point Mutation

Loss of proteolytic cleavage site (prevents inactivation of Factor Va)

 

Associated with 90% of DVT

Supporting users have an ad free experience!