Conditions/Drugs Q3 Flashcards
Condition that can be detected using single gene sequencing on the NF1 gene
Neurofibromatosis type I
X-linked recessive disorder that is the most common type of muscular dystrophy occurring in childhood
Duchenne muscular dystrophy (DMD)
Inheritance pattern of Duchenne muscular dystrophy
X-linked recessive
Expression of Duchenne muscular dystrophy in different sexes
Only males express the disease
Females are carriers
(X-linked recessive)
Taking folic acid prior to conception lowers risk and teratogens elevate risk of this
Neural tube defects
Cholera toxin binds to this
Ganglioside Gm1 in cell membrane, causes phosphorylation/activation of CFTR
Cystic fibrosis has what effect on Cl- secretion?
Decreased Cl- secretion; increasing H2O absorption
Cholera has what effect on Cl- secretion?
Increased Cl- secretion; decreased H2O absorption
Molecule that is produced in excess during a small intestine bacterial overgrowth (SIBO)
Free ammonia NH3
Small intestine bacterial overgrowth (SIBO) has what effect on pH?
pH Increased
(NH3 produced acts as base, reducing [H+])
COPD has what effect on pH?
Decreased blood pH
(Poor exchange of CO2 for oxygen in the lungs, so blood [CO2] is high, producing more H+)
Kidney stones may be formed by reduced transport of this molecule
Cystine
Condition caused by mutations in a1 or a2 chains of type I collagen
Osteogenesis imperfecta
Osteogenesis imperfecta is due to mutations in this
Type I collagen
Condition caused by Vitamin C deficiency, altering collagen formation
Scurvy
Condition involving hyperextensible skin, hypermobile joints, bruising/bleeding tendencies
Ehlers-Danlos syndrome
Autosomal recessive disease caused by a point mutation of Glu to Val
Sickle cell anemia
Heterozygotes with the allele for this condition are protected from malaria
Sickle cell anemia
2 Conditions caused by accumulation of intra- and extracellular bundles and filaments that form plaques
Amyloid disease, Alzheimer’s disease
Major component of plaques
Beta amyloid
Condition due to the cytochrome b5 reductase/methemoglobin reductase system not being at adult levels until age 4
Blue baby syndrome
Blue baby syndrome is due to this system not being at adult levels
Cytochrome b5 reductase/methemoglobin reductase system
Rare X-linked recessive metabolic disorder caused by a defective ATP7A, resulting in impaired copper absorption/transport
Menkes disease
Treatment for Menkes disease
Copper histidine
Compound that is elevated soon after an MI, but disappears rapidly
Creatine phospokinase
Compound that appears slower after an MI but persists for several days
LDH
Compound that arises soon after an MI and persists for several days
Troponin
Autosomal recessive disorder involving a mutated transporter of large, neutral amino acids like tryptophan
Leads to niacin deficiency
Hartnup disease
Autosomal dominant disorder that is the most common form of short limbed dwarfing
Homozygous recessive is perinatally lethal condition
Achondroplasia
Sacrococcygeal tumors can be from remnants of this
Contain tissues derived from all 3 germ layers
Can contain muscles, bones, any type
Primitive streak
Condition where insufficient mesoderm is formed in the caudal most region of the embryo
Defective formation of lower limbs, genitourinary structures, lumbosacral vertebrae
Loss of mesoderm in the lumbosacral region can result in fusion of the limb buds
Associated with maternal diabetes
Caudal dysgenesis (sirenomelia)
Transition-state analog that blocks bacterial cell wall synthesis
Penicillin
Organophosphates (Malathion, Diisofluorophosphate, Sarin, and nerve gasses) covalently inhibits this type of enzyme
Serine hydrolases
(Trypsin, chymotrypsin, acetylcholinesterase, blood clotting enzymes)
The cardiac glycosides (Ouabain, Digoxin, Digitoxin) inhibits this
P-class Na+ K+ ATPase pump
Aspirin covalently inhibits this
Cyclo-oxygenase 1 and 2
