last weeks Flashcards
stop codons?
what binds them?
UGA
UAG
UAA
NOT any tRNAs. They are bound by Releasing Factors, RF1, RF2, RF3.
Sturge Weber inheritance and mnemnonic
S - Sporadic, stain, and seizures
T - Tram track calcifications of the white matter
U - Unilateral
R - Retardation
G - GNAQ gene activating mutation.
E - Epilepsy,
SPORADIC, non-inherited developmental disroder
Von Geirke disease defect
What sugars should be avoided in von gierkes disease
Fructose and galactose - they increase the Glucose 6 phosphate concentration, VG disease is a Glucose 6 phosphatase deficiency.
Pompe Disease defect
Lysosomal acid 1,4 glucosidase with 1,6 glucosidase activity, aka acid maltase
Cori disease
Debranching enzyme 1,6 glucosidase
What is the use and mechanism of
Fomepizole
Fomepizole inhibits alcohol dehydrogenase.
Used to treat Methanol, Isopropyl alcohol, or Ethylene Glycol poisoning
Treatment for Salicylate overdose
NaHCO3, sodium bicarb, to alaklinize the urine,
also helps alkalinize the blood to counter the met acidosis from salicylate
Treatment for TCA overdose
NaHCO3, sodium bicarb, alkalinize urine, and the increased Na+ helps prevent TCA binding to Na channels.
Posterior Inferior Cerebellar Artery Infarct
Lateral medullary syndrome, Wallenberg syndrome
Loss of pain and temp sensation on ipsilateral face
Loss of pain and temp sensation from contralateral body
Speech and swallowing difficulty,
Dysarthria and Dysphagia
Loss of ipsilateral gag reflex
Hiccups
Ipsilateral horner syndrome
Vertigo
Nystagmus
Ipsilateral clumsiness, ataxia, and intention tremor.
Medial medullary syndrome
Infarct of penetrating branches of the Anterior spinal artery or basilar artery in the medulla.
Lesions to:
- Corticospinal tract in the pyramids - hemiparesis and UMN lesion to contralateral body. (decussates just below the pyramids)
- Medial lemniscus - Loss of vibration, fine touch, and proprioception from contralateral arm and leg
- Hypoglossal nucleus and nerve - Tongue weakness and atrophy, deviates toward the lesion, a LMN lesion of hypoglossal
Lesion at the Genu of the internal capsule
Paralysis of the contralateral lower half of face.
Lesion to the posterior limb of internal capsule
Combined motor and sensory loss of contralateral body.
Lesion to the Ventral Posterior Thalamus
Loss of sensation from the contralateral face and body.
VPL - body sensation
VPM - face sensation from CNV.
Paraneoplastic cerebellar degeneration
Antibodies against purkinje cell antigens
Small cell lung cancer - anti-Hu
Breast and uterine cancers anti-Yo
Hodgkin lymphoma anti-Tr
Paraneoplastic encephalomyelitis
Small cell lung cancer
Anti-Hu in neurons
Opsoclonus-myoclonus ataxia syndrome
Dancing eyes, dancing feet.
Neuroblastoma in children
SCLC in adults
Anti-NMDA receptor encephalitis
Pyschiatric change
Memory loss
seizures
dyskinesia
Ovarian teratoma
Sterile platelet thrombi on the heart valves
Non-bacterial thrombotic endocarditis
SLE
Adenocarcinomas, especially pancreas, as paraneoplastic
Non-bacterial thrombotic endocarditis
Maternal virilization during pregnancy
Placental aromatase deficiency
XX female fetus
presents with ambiduous genetalia
inability to synthesize estrogen from androgens
Gabapentin and Pregabalin mechanisms and use
Inhibit voltage gated Calcium channels
and
Increase presynaptic GABA release.
Rx:
Fibromyalgia
Post-herpetic neuralgia
sometimes as antiepileptics
Vigabatrin and Tiagabine mechanisms and use
Vigabatrin inhibits GABA transaminase, increasing CNS GABA levels
Tiagabine inhibits synaptic GABA reuptake.
Used as adjunct treatments for partial seizure disorders.
Cyclobenzaprine
Unclear mechanism inhibiting muscle stretch refelx in spinal cord.
Used to treat acute spasms due to injury or inflammation
Strong antimuscarinic effects.
Dandy Walker malformation
Agenesis of the cerebellar vermis
Cystic enlargement of 4th ventricle
associated with noncommunicating hydrocephus and psina bifida.
Idiopathic or Rubella or Fetal Alcohol associated.
Primary sclerosing cholangitis is associated with
Middle aged men with IBD
Cholangiocarcinoma Gallbladder cancer Ulcerative colitis and is p-ANCA positive increased IgM
Primary billiary cirrhosis is associated with
Middle aged women with autoimmune diseases
autoimmune conditions
sjogrens, RA
anti-mitochondrial antibodies
increased IgM
refeeding syndrome
when previously malnourished patients are fed with high carbohydrate loads, a rapid fall in serum phosphate, magnesium, and potassium ensues along with an increase in extracellular fluid volume.
Lateral cerebellar lesions
Ipsilateral difficulty with moving the arms and legs
Propensity to fall towards the ipsilateral side
Medial cerebellar lesions
Affect trunk. Truncal ataxia.
Wide based ataxic gait
Nystagmus
Bilateral defects of proximal limb muscles.
General cerebellar lesion signs
ataxia
dysmetria - ‘past pointing’
dysdiadochokinesia
Intention tremor
Instability on standing with feet together whether eyes are opened or closed
Romberg sign
Patient can stand with feet together and eyes are open,
but once eyes close and they remove visual input they fall,
because the proprioceptive sense is defective.
ie sensory ataxia.
Naked DNA viruses
PapPPA
Papillomavirus
Polyomavirus
Parvovirus
Adenovirus
Naked RNA viruses
Reovirus - You get naked to jump in the double stranded reo grand
Picornaviruses - Ornas always naked
Caliciviruses - Khalisi naked
Hepevirus - HEV is the only naked hep virus
DNA Mismatch repair
MSH1 MSH2, seen in HNPCC, lynch syndrome
Nucleotide excision repair
Repair of thymidine dimers.
Xeroderma pigmentosum
Endonuclease cuts out several nucleotides around the dimer
Polymerase fills it
Ligase seals it
Base excision repair
Repairs deaminated cytosines (uracils)
Glycosylase excises just the base –> Apurinic/Apyrimidinic site
AP-Endonuclease cleaves th 5’ end of the sugar phosphate backbone
Lyase cleaves the 3’ end
Polymerase replases the nucleotide
Ligase seals it
Nonhomologous end joining
Double stranded break repair.
Ataxia telangiectasia
Cerebellar degeneration (Ataxia), Spider Angiomas (telangiectasia), IgA, IgG, and IgE deficiency
Increased AFP
Increased risk for lymphomas and leukemias.
Alport Syndrome
Mutation in type 4 collagen.
Retinopathy, Lens dislocation, and/or Cataracts
Glomerulonephritis
Sensorineural deafness
“Can’t see, can’t pee, can’t hear high C”
DNApol 3
Elongates leading strand, growing f
Adds nucleotides onto the 3’ end, growing the strat from the 5’ towards 3’ like all of them.
5’ –> 3’ polymerase activity
3’ –> 5’ exonuclease proofreading activity
DNA pol 1
The one that has 5’ –> 3’ exonuclease activity, so it can remove the RNA primers as it synthesizes.
Also has 5’ to 3’ polymerase activity and 3’ to 5’ exonuclease activity for proofreading.
HIV gene Pol gene
All the genese needed to transcribe new viral RNA, Rting it, integrating it, and cleaving the prepeptide.
Reverse Transcriptase \+ Integrase \+ Protease
HIV Gag gene
Core proteins and Nucleocapsid proteins
p24 and p7.
HIV Env gene
Glycoproteins (envelope proteins)
Produces gp160, which is cleaved by viral protease in the Golgi to
gp120
gp41
Times when gyndecomastia can be normal in males
Physiologic gynecomastia:
Newborns present in 70% of cases
Puberty peaks at ages 13-14 years
Elderly persons occurs between 50 an 80 years of age
Wrinkles caused by
Decreased synthesis of elastin and collagen
decreased ECM turnover
Idiopathic thrombocytopenic purpura
Autoantibodies against the gp2b3a receptor
TTP
Autoantibodies against ADAMTS protein and accumulation of very large vWBF
The 3 types of homocystinuria
Cystathione synthase deficiency:
- presents: increased homocysteine and methionine, and decreased cysteine, which needs to be supplemented, as well as B6
Decreased affinity of cystathionine synthase for B6 pyridoxal phosphate.
- presents same as cystathione synthase deficiency.
Supplement with lots of B6 and cysteine
Methionine synthase deficiency.
- Low methionine, high homocysteine,
- treatment methionine supplementation.
All of them present with excess homocysteine.
- homocysteineuria
- osteoporosis
- marfanoid
- lens subluxation
- AMIs and Strokes
- Kyphosis
- Intellectual disability
Cystinuria
Cystine is two cysteines connected by a disulfide bond.
Hereditary defect of the intestinal and renal BASIC amino acid transporter. the COLA transporter: Cystine Ornithine Lysine Arginine.
Hexagonal cystine stones in the urine.
Treat with urinary alkalinization, with Acetazolamide or potassium citrate. And hydration.
If the urine is more basic, then these basic proteins are less likely to pick up protons and become charged being trapped in the lumen. Alkalinization lowers their concentration in the urine.
Duchenne dystrophy
XLR
Caused by a FRAMESHIFT or nonsense mutations
The calf has pseudohypertrophy, but the weakness begins in the Pelvic Girdle muscles and the Ascends superiorly.
Death by DILATED CARDIOMYOPATHY
Becker dystrophy
XLR
Caused by DELETIONS (non-frameshift deletions)
Myotonic dystrophy type 1
C
T
G
repeat expansions in the DMPK gene. Dominant myotonic dystrophy.
Muscle atrophy plus CTG
- Cataracts
- Toupees
- Gonadal atrophy
Paclitaxel
a TAXANE type drug (tarzan)
Stabilizes microtubles preventing depolymerization
M phase specific cell killing.
Has a SERIOUS hypersensitivity reaction as a possible side effect.
ALL patients are required to be pre-treated with:
Dexamethasone - corticosteroid
Diphenhydramine - antihistamine
H2 blocker - cimetidine
Vinca alkaloid drugs
Vincristine and Vinblastine
Bind to tubulin and inhibit its polymerization.
Also M phase specific killing.
Centrilobular necrosis
liver congestion
Acetominophen poisoning
CCl4 poisoning.
-acetominophen and ccl4 are due to the highest concentrations of CYP being cental.
Periportal necrosis
GVHD
Hepatitis
